### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = ACTG1)
# 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}}"
"ACTG1"	"actin, gamma 1"	"17"	"q25"	"unknown"	"NG_011433.1"	"UD_132119118405"	""	"https://www.LOVD.nl/ACTG1"	""	"1"	"144"	"71"	"102560"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No. 200754 - the GEN2PHEN project."	""	"g"	"http://databases.lovd.nl/shared/refseq/ACTG1_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00000"	"2010-04-29 00:00:00"	"00006"	"2020-02-11 08:28:14"	"00006"	"2025-11-13 13:04:16"


## 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}}"
"00000706"	"ACTG1"	"transcript variant 2"	"002"	"NM_001614.3"	""	"NP_001605.1"	""	""	""	"-139"	"1847"	"1128"	"79476997"	"79479892"	"00000"	"2012-09-13 12:48:36"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 12
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00139"	"ID"	"intellectual disability (ID)"	""	""	""	""	""	"00084"	"2013-06-04 18:18:07"	"00006"	"2015-02-09 10:02:49"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"00350"	"DFNA1"	"deafness, autosomal dominant, type 1"	"AD"	"124900"	""	""	""	"00081"	"2014-03-13 13:45:31"	"00006"	"2021-12-10 21:51:32"
"00531"	"DFNB;ARNSHL"	"deafness, autosomal recessive, nonsyndromic (DFNB, autosomal recessive non syndromic hearing loss (ARNSHL))"	""	""	""	""	""	"00006"	"2014-09-21 11:25:16"	"00006"	"2015-12-08 23:59:30"
"01011"	"DFNA20;DFNA26"	"deafness, autosomal dominant, type 20/26 (DFNA-20;DFNA-26)"	"AD"	"604717"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"01012"	"BRWS2"	"Baraitser-Winter syndrome, type 2 (BRWS2)"	"AD"	"614583"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"01157"	"CHTE"	"Hypothyroidism, central, testicular enlargement (CHTE)"	"XLR"	"300888"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"
"04327"	"CRS"	"craniosynostosis (CRS)"	""	""	""	""	""	"00006"	"2015-09-12 20:59:03"	""	""
"05086"	"HL"	"hearing loss (HL)"	""	""	""	""	""	"00006"	"2015-10-23 11:41:05"	"00006"	"2015-10-23 11:43:00"
"05103"	"deafness"	"deafness"	""	""	""	""	""	"00006"	"2015-12-02 12:30:46"	"00006"	"2017-08-25 19:47:08"
"05692"	"BRWS"	"Baraitser-Winter syndrome (BRWS)"	""	""	""	""	""	"00006"	"2020-02-08 14:35:40"	"00006"	"2021-12-10 21:51:32"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 4
"{{geneid}}"	"{{diseaseid}}"
"ACTG1"	"00139"
"ACTG1"	"01011"
"ACTG1"	"01012"
"ACTG1"	"05692"


## Individuals ## Do not remove or alter this header ##
## Count = 67
"{{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"	""	""	""	""
"00000209"	""	""	""	"1"	""	"00037"	"{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}"	""	"M"	"no"	"Netherlands"	""	"0"	""	""	""	""
"00059130"	""	""	""	"1"	""	"01551"	"{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}"	""	""	""	""	""	"0"	""	""	""	""
"00080050"	""	""	""	"1"	""	"01740"	"{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}"	""	""	""	""	""	""	""	""	""	""
"00117275"	""	""	""	"1"	""	"00110"	"{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}"	"Proband"	"F"	"no"	"France"	""	"0"	""	""	""	"S1572"
"00204325"	""	""	""	"1"	""	"00233"	""	""	""	""	""	""	"0"	""	""	""	""
"00204326"	""	""	""	"1"	""	"00233"	""	""	""	""	""	""	"0"	""	""	""	""
"00204327"	""	""	""	"1"	""	"00233"	""	""	""	""	""	""	"0"	""	""	""	""
"00204328"	""	""	""	"1"	""	"00233"	"{PMID:Rivière 2012:22366783}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	""	""	""	"0"	""	""	""	"61458"
"00204329"	""	""	""	"1"	""	"00233"	""	""	""	""	""	""	"0"	""	""	""	""
"00204330"	""	""	""	"1"	""	"00233"	"{PMID:Rivière 2012:22366783}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	""	""	""	"0"	""	""	""	"LR06-241"
"00204331"	""	""	""	"1"	""	"00233"	"{PMID:Rivière 2012:22366783}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	""	""	""	"0"	""	""	""	"LR04-298"
"00204332"	""	""	""	"1"	""	"00233"	"{PMID:Rivière 2012:22366783}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	""	""	""	"0"	""	""	""	"58431"
"00204333"	""	""	""	"1"	""	"00233"	""	""	""	""	""	""	"0"	""	""	""	""
"00204334"	""	""	""	"1"	""	"00233"	"{PMID:Rivière 2012:22366783}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	""	""	""	"0"	""	""	""	"LR03-033"
"00204335"	""	""	""	"1"	""	"00233"	"{PMID:Rivière 2012:22366783}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	""	""	""	"0"	""	""	""	"LP92-083"
"00204336"	""	""	""	"1"	""	"00233"	""	""	""	""	""	""	"0"	""	""	""	""
"00204337"	""	""	""	"1"	""	"00233"	""	""	""	""	""	""	"0"	""	""	""	""
"00204338"	""	""	""	"1"	""	"00233"	""	""	""	""	""	""	"0"	""	""	""	""
"00204339"	""	""	""	"1"	""	"00233"	""	""	""	""	""	""	"0"	""	""	""	""
"00267235"	""	""	""	"1"	""	"03468"	"{PMID:Chacon-Camacho 2020:32028042}, {DOI:Chacon-Camacho 2020:10.1016/j.ejmg.2020.103877}"	""	"M"	"no"	"Mexico"	""	"0"	""	""	""	"Pat1"
"00267236"	""	""	""	"1"	""	"03468"	"{PMID:Chacon-Camacho 2020:32028042}, {DOI:Chacon-Camacho 2020:10.1016/j.ejmg.2020.103877}"	""	"M"	"no"	"Mexico"	"06y"	"0"	""	""	"Mexican"	"Pat2"
"00285150"	""	""	""	"1"	""	"00004"	"{PMID:Duzkale 2013:24033266}"	""	""	""	""	""	"0"	""	""	""	""
"00285152"	""	""	""	"1"	""	"00004"	"{PMID:Duzkale 2013:24033266}"	""	""	""	""	""	"0"	""	""	""	""
"00285154"	""	""	""	"1"	""	"00004"	"{PMID:Duzkale 2013:24033266}"	""	""	""	""	""	"0"	""	""	""	""
"00285155"	""	""	""	"1"	""	"00004"	"{PMID:Park 2013:23506231}"	""	""	""	""	""	"0"	""	""	""	""
"00285156"	""	""	""	"1"	""	"00004"	"{PMID:Duzkale 2013:24033266}"	""	""	""	""	""	"0"	""	""	""	""
"00285157"	""	""	""	"1"	""	"00004"	"{PMID:Miyagawa 2013:24130743}"	""	""	""	""	""	"0"	""	""	""	""
"00285158"	""	""	""	"1"	""	"00004"	"{PMID:Duzkale 2013:24033266}"	""	""	""	""	""	"0"	""	""	""	""
"00285160"	""	""	""	"1"	""	"00004"	"{PMID:Duzkale 2013:24033266}"	""	""	""	""	""	"0"	""	""	""	""
"00285161"	""	""	""	"1"	""	"00004"	"{PMID:Mutai 2013:24164807}"	""	""	""	""	""	"0"	""	""	""	""
"00285166"	""	""	""	"1"	""	"00004"	"{PMID:Duzkale 2013:24033266}"	""	""	""	""	""	"0"	""	""	""	""
"00285168"	""	""	""	"1"	""	"00004"	"{PMID:Richards 2008:18414213}"	""	""	""	""	""	"0"	""	""	""	""
"00285169"	""	""	""	"1"	""	"00004"	"{PMID:Duzkale 2013:24033266}"	""	""	""	""	""	"0"	""	""	""	""
"00285170"	""	""	""	"1"	""	"00004"	"{PMID:Baek 2012:22938506}"	""	""	""	""	""	"0"	""	""	""	""
"00285171"	""	""	""	"1"	""	"00004"	"{PMID:Duzkale 2013:24033266}, {PMID:Richards 2015:25741868}"	""	""	""	""	""	"0"	""	""	""	""
"00285172"	""	""	""	"1"	""	"00004"	"{PMID:Duzkale 2013:24033266}"	""	""	""	""	""	"0"	""	""	""	""
"00285173"	""	""	""	"1"	""	"00004"	"{PMID:Richards 2008:18414213}"	""	""	""	""	""	"0"	""	""	""	""
"00285174"	""	""	""	"1"	""	"00004"	"{PMID:Richards 2015:25741868}"	""	""	""	""	""	"0"	""	""	""	""
"00285175"	""	""	""	"1"	""	"00004"	"{PMID:Duzkale 2013:24033266}"	""	""	""	""	""	"0"	""	""	""	""
"00285176"	""	""	""	"1"	""	"00004"	"{PMID:Miyagawa 2013:23967202}"	""	""	""	""	""	"0"	""	""	""	""
"00285178"	""	""	""	"1"	""	"00004"	"{PMID:Duzkale 2013:24033266}"	""	""	""	""	""	"0"	""	""	""	""
"00285179"	""	""	""	"1"	""	"00004"	"{PMID:Duzkale 2013:24033266}, {PMID:Richards 2015:25741868}"	""	""	""	""	""	"0"	""	""	""	""
"00285181"	""	""	""	"1"	""	"00004"	"{PMID:Liu 2008:18804074}"	""	""	""	""	""	"0"	""	""	""	""
"00285182"	""	""	""	"1"	""	"00004"	"{PMID:Duzkale 2013:24033266}"	""	""	""	""	""	"0"	""	""	""	""
"00285186"	""	""	""	"1"	""	"00004"	"{PMID:Duzkale 2013:24033266}"	""	""	""	""	""	"0"	""	""	""	""
"00285188"	""	""	""	"1"	""	"00004"	"{PMID:Duzkale 2013:24033266}"	""	""	""	""	""	"0"	""	""	""	""
"00285189"	""	""	""	"1"	""	"00004"	""	""	""	""	""	""	"0"	""	""	""	""
"00285190"	""	""	""	"1"	""	"00004"	"{PMID:Duzkale 2013:24033266}"	""	""	""	""	""	"0"	""	""	""	""
"00285191"	""	""	""	"1"	""	"00004"	"{PMID:de Heer 2009:19548389}"	""	""	""	""	""	"0"	""	""	""	""
"00285192"	""	""	""	"1"	""	"00004"	"{PMID:Richards 2015:25741868}"	""	""	""	""	""	"0"	""	""	""	""
"00285854"	""	""	""	"2"	""	"00006"	"{PMID:Vandervore 2019:30391508}"	"2-generation family, affected brother/sister, unaffected heterozygous carrier parents"	"M"	"no"	"Netherlands"	""	"0"	""	""	""	"FamPat1"
"00285856"	""	""	""	"1"	""	"00006"	"{PMID:Rivière 2012:22366783}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	""	"England"	""	"0"	""	""	""	"LP98-096"
"00285857"	""	""	""	"1"	""	"00006"	"{PMID:Rivière 2012:22366783}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	""	""	""	"0"	""	""	""	"11-10857"
"00285886"	""	""	""	"1"	""	"00006"	"{PMID:Verloes 2015:25052316}"	""	""	""	""	""	"0"	""	""	""	"PatA4"
"00287104"	""	""	""	"1"	""	"03590"	"{PMID:di Donato, 2016:27240540}"	""	"M"	""	""	""	"0"	""	""	""	"LP98-111a2"
"00287170"	""	""	""	"2"	""	"03590"	"{PMID:Lee, 2018:29620237}"	""	"M"	"no"	"Korea"	""	"0"	""	""	""	""
"00287173"	""	""	""	"10"	""	"03590"	"{PMID:Wang, 2018:30599039}"	"4 generation family with 10 affected individuals"	"F"	"no"	"China"	""	"0"	""	""	""	"IV1"
"00288259"	""	""	""	"2"	""	"03590"	"{PMID:Morín et al, 2009:19477959}"	""	"F"	"no"	""	""	"0"	""	""	""	"S840:II.1"
"00288260"	""	""	""	"4"	""	"03590"	"{PMID:Morín, 2009:19477959}"	""	"F"	"no"	""	""	"0"	""	""	""	"S582:II.3"
"00289370"	""	""	""	"19"	""	"03590"	"{PMID:van Wijk 2003:14684684}"	""	"M"	"no"	"Germany"	""	"0"	""	""	""	"W99-060; IV:7"
"00327082"	""	""	""	"1"	""	"03611"	"{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}"	""	""	""	"Korea, South (Republic)"	""	"0"	""	""	""	""
"00395564"	""	""	""	"1"	""	"00000"	"{PMID:Perea-Romero 2021:34448047}"	""	""	""	"Spain"	""	"0"	""	""	""	"RP-0270"
"00419683"	""	""	""	"1"	""	"01164"	""	""	"M"	"no"	"Germany"	""	"0"	""	""	""	"194981"
"00449771"	""	""	""	"1"	""	"03544"	""	""	"F"	"-"	"- (not applicable)"	""	""	""	""	"white"	""
"00458115"	""	""	""	"1"	""	"04663"	"{PMID:Graziani  2022:36810952}"	""	"F"	"no"	""	""	"0"	""	""	""	"patient"
"00468582"	""	""	""	"1"	""	"00006"	"{PMID:Retterer 2016:26633542}"	"analysis proband (1/3040); possible combination of variants not reported"	""	""	"United States"	""	"0"	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 47
"{{individualid}}"	"{{diseaseid}}"
"00000208"	"01157"
"00000209"	"01157"
"00059130"	"00531"
"00080050"	"05103"
"00117275"	"05103"
"00204325"	"01011"
"00204326"	"01011"
"00204327"	"01011"
"00204328"	"01012"
"00204329"	"01011"
"00204330"	"05692"
"00204331"	"05692"
"00204332"	"05692"
"00204333"	"01011"
"00204334"	"05692"
"00204335"	"05692"
"00204336"	"01011"
"00204337"	"01011"
"00204338"	"01011"
"00204339"	"01011"
"00267235"	"05692"
"00267236"	"05692"
"00285155"	"05086"
"00285157"	"05103"
"00285161"	"05086"
"00285168"	"00198"
"00285170"	"05086"
"00285176"	"05103"
"00285181"	"05103"
"00285189"	"05103"
"00285191"	"05103"
"00285854"	"04327"
"00285856"	"05692"
"00285857"	"05692"
"00285886"	"05692"
"00287104"	"01012"
"00287170"	"01011"
"00287173"	"01011"
"00288259"	"01011"
"00288260"	"01011"
"00289370"	"01011"
"00327082"	"00350"
"00395564"	"04214"
"00419683"	"01012"
"00449771"	"00139"
"00458115"	"01012"
"00468582"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00350, 00531, 01011, 01012, 01157, 04214, 04327, 05086, 05103, 05692
## Count = 36
"{{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}}"
"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"	""	""	""	""	""	""	""	""	""
"0000038984"	"01157"	"00000209"	"00006"	"Familial, X-linked recessive"	""	"central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)"	""	"07y04m"	""	""	""	""	""	""	""	""	""
"0000046734"	"00531"	"00059130"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000092522"	"05103"	"00117275"	"00110"	"Isolated (sporadic)"	"03y"	""	""	""	""	""	""	""	""	""	""	""	""
"0000217200"	"00198"	"00285168"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"type 2"	"Baraitser-Winter Syndrome"	""
"0000218273"	"05086"	"00285155"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Hearing loss,  non-syndromic"	""
"0000218274"	"05086"	"00285161"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Hearing loss,  early-childhood"	""
"0000218275"	"05086"	"00285170"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Hearing loss"	""
"0000218613"	"05103"	"00285157"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"deafness"	""
"0000218617"	"05103"	"00285176"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"deafness"	""
"0000218618"	"05103"	"00285181"	"00008"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"deafness, dominant progressive"	""
"0000218622"	"05103"	"00285189"	"00008"	"Familial, autosomal dominant"	""	"hearing loss (HL), non-syndromic"	""	""	""	""	""	""	""	""	"type 20; type 26"	"deafness, autosomal dominant"	""
"0000218623"	"05103"	"00285191"	"00008"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"deafness, dominant progressive"	""
"0000219686"	"04327"	"00285854"	"00006"	"Familial, autosomal dominant"	""	"see paper; ..., neonatal microcephaly, agenesis corpus callosum, brachycephaly with reduced volume posterior fossa, cerebellar and pons hypoplasia, scoliosis, tethered cord (closed neural tube defect)"	""	""	""	""	""	""	""	""	"BAIDCS"	"craniosynostosis"	""
"0000219688"	"01012"	"00204328"	"00006"	"Isolated (sporadic)"	""	"no short stature, no microcephaly postnatal; intellectual disability, hearing loss, seizures; trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; no coloboma; pachygyria only anterior greater than posterior lissencephaly"	""	""	""	""	""	""	""	""	"BRWS2"	"Baraitser-Winter syndrome"	""
"0000219689"	"05692"	"00204330"	"00006"	"Isolated (sporadic)"	""	"short stature, microcephaly postnatal; intellectual disability, hearing loss, seizures; trigonocephaly, no hypertelorism, high-arched eyebrows, congenital ptosis; coloboma; pachygyria-band anterior greater than posterior lissencephaly"	""	""	""	""	""	""	""	""	"BRWS2"	"Baraitser-Winter syndrome"	""
"0000219690"	"05692"	"00204331"	"00006"	"Isolated (sporadic)"	""	"no short stature, no microcephaly postnatal; seizures; trigonocephaly, hypertelorism, congenital ptosis; pachygyria only anterior greater than posterior lissencephaly"	""	""	""	""	""	""	""	""	"BRWS2"	"Baraitser-Winter syndrome"	""
"0000219691"	"05692"	"00204332"	"00006"	"Isolated (sporadic)"	""	"see paper;..., no short stature, no microcephaly postnatal; hearing loss, seizures; trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; no coloboma; pachygyria only anterior greater than posterior lissencephaly"	""	""	""	""	""	""	""	""	"BRWS2"	"Baraitser-Winter syndrome"	""
"0000219692"	"05692"	"00204334"	"00006"	"Isolated (sporadic)"	""	"no short stature, microcephaly postnatal; intellectual disability, hearing loss, no seizures; trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; coloboma; pachygyria only anterior greater than posterior lissencephaly"	""	""	""	""	""	""	""	""	"BRWS2"	"Baraitser-Winter syndrome"	""
"0000219693"	"05692"	"00204335"	"00006"	"Isolated (sporadic)"	"18y"	"see paper; ..., short stature, microcephaly postnatal; intellectual disability, hearing loss, seizures; trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; coloboma; pachygyria-band anterior greater than posterior lissencephaly"	""	""	""	""	""	""	""	""	"BRWS2"	"Baraitser-Winter syndrome"	""
"0000219694"	"05692"	"00285856"	"00006"	"Isolated (sporadic)"	""	"short stature, microcephaly postnatal; intellectual disability, o hearing loss, seizures; trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; coloboma; pachygyria-band anterior greater than posterior lissencephaly"	""	""	""	""	""	""	""	""	"BRWS2"	"Baraitser-Winter syndrome"	""
"0000219695"	"05692"	"00285857"	"00006"	"Isolated (sporadic)"	""	"seizures; hypertelorism, high-arched eyebrows, congenital ptosis; coloboma"	""	""	""	""	""	""	""	""	"BRWS2"	"Baraitser-Winter syndrome"	""
"0000219728"	"05692"	"00285886"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"BRWS2"	"Baraitser-Winter syndrome"	""
"0000220841"	"01012"	"00287104"	"03590"	"Isolated (sporadic)"	"02y06m"	""	""	""	""	""	""	""	""	""	""	""	""
"0000220905"	"01011"	"00287170"	"03590"	"Familial, autosomal dominant"	"04y06m"	"severe to profound bilateral deafness and cleft lip and palate"	"00y"	""	""	""	""	""	""	""	"Hearing loss"	"Hearing loss"	""
"0000221097"	"01011"	"00287173"	"03590"	"Familial, autosomal dominant"	"29y"	"moderate hearing loss\r\ndownward slope into higher frequencies with a gradual worsening over time affecting all frequencies"	"15y"	"15y"	""	""	""	""	""	""	"NSHL"	"NSHL"	""
"0000221996"	"01011"	"00288259"	"03590"	"Familial, autosomal dominant"	""	"bilateral, symmetrical and progressive sensorineural hearing loss at mid- and high frequencies (a down-sloping audiometric profile) of post-lingual onset (third decade)"	""	""	"HP:0000407"	""	""	""	""	""	"Deafness"	"Deafness"	""
"0000221997"	"01011"	"00288260"	"03590"	"Familial, autosomal dominant"	""	"post-lingual, bilateral, symmetrical and progressive sensorineural hearing impairment that affect the mid- and high frequencies. hearing problems at school age."	""	""	"HP:0000407"	""	""	""	""	""	"Deafness"	"Deafness"	""
"0000222983"	"01011"	"00289370"	"03590"	"Familial, autosomal dominant"	""	"Before they were 15 years old, the patients had already shown gently downsloping audiograms. By ages 15 to 20 and 25 to 40 years, hearing loss had become severe to profound at 8 kHz and 1 to 4 kHz, respectively.\r\nThe thresholds at 0.25 to 0.5 kHz showed more gradual progression at an average increase of about 1.5 to 2 dB/y."	""	""	""	""	""	""	""	""	"Deafness"	"Deafness"	""
"0000288762"	"04214"	"00395564"	"00000"	"Familial, autosomal dominant"	""	"posterior polar cataract, rod-cone dystrophy, strabismus, congenital sensorineural hearing impairment, delayed speech and language development, global developmental delay, mild intellectual disability"	""	""	""	""	""	""	""	""	"retinitis pigmentosa, hearing impairment, intellectual disability"	""	""
"0000300782"	"05692"	"00267235"	"00006"	"Isolated (sporadic)"	"00y10m"	"see paper; ..."	""	""	""	""	""	""	""	""	"BRWS2"	"Baraitser-Winter cerebrofrontofacial syndrome"	""
"0000300783"	"05692"	"00267236"	"00006"	"Isolated (sporadic)"	"06y"	"see paper; ..."	""	""	""	""	""	""	""	""	"BRWS2"	"Baraitser-Winter cerebrofrontofacial syndrome"	""
"0000310963"	"01012"	"00419683"	"01164"	"Isolated (sporadic)"	"02y"	"Global developmental delay"	""	""	""	""	""	""	""	""	""	""	""
"0000338916"	"00139"	"00449771"	"03544"	"Isolated (sporadic)"	""	"HP:0002342, HP:0000085, HP:0002280, HP:0000540, HP:0000718"	""	""	""	""	""	""	""	""	"614583"	"moderate intellectual disability"	""
"0000346560"	"01012"	"00458115"	"04663"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"BRWS2"	"Baraitser-Winter syndrome"	""
"0000353735"	"00198"	"00468582"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"multiple congenital anomalies"	""


## Screenings ## Do not remove or alter this header ##
## Count = 67
"{{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"	""	""
"0000000210"	"00000209"	"1"	"00037"	"00001"	"2012-09-13 12:09:36"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000059099"	"00059130"	"1"	"01551"	"01551"	"2016-02-26 16:21:02"	""	""	"SEQ;SEQ-NG-I"	"DNA;RNA;protein"	""	""
"0000080129"	"00080050"	"1"	"01740"	"01740"	"2016-09-01 13:59:02"	""	""	"SEQ-NG"	"DNA"	""	""
"0000117743"	"00117275"	"1"	"00110"	"00110"	"2017-08-17 10:34:35"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	"gene panel"
"0000205355"	"00204325"	"1"	"00233"	"00233"	"2012-05-11 15:24:36"	""	""	"SEQ"	"DNA"	""	""
"0000205356"	"00204326"	"1"	"00233"	"00233"	"2012-05-11 15:24:36"	""	""	"SEQ"	"DNA"	""	""
"0000205357"	"00204327"	"1"	"00233"	"00233"	"2012-05-11 15:24:36"	""	""	"SEQ"	"DNA"	""	""
"0000205358"	"00204328"	"1"	"00233"	"00233"	"2012-05-11 15:24:36"	""	""	"SEQ"	"DNA"	""	""
"0000205359"	"00204329"	"1"	"00233"	"00233"	"2012-05-11 15:24:36"	""	""	"SEQ"	"DNA"	""	""
"0000205360"	"00204330"	"1"	"00233"	"00233"	"2012-05-11 15:24:36"	""	""	"SEQ"	"DNA"	""	""
"0000205361"	"00204331"	"1"	"00233"	"00233"	"2012-05-11 15:24:36"	""	""	"SEQ"	"DNA"	""	""
"0000205362"	"00204332"	"1"	"00233"	"00233"	"2012-05-11 15:24:36"	""	""	"SEQ"	"DNA"	""	""
"0000205363"	"00204333"	"1"	"00233"	"00233"	"2012-05-11 15:24:36"	""	""	"SEQ"	"DNA"	""	""
"0000205364"	"00204334"	"1"	"00233"	"00233"	"2012-05-11 15:24:36"	""	""	"SEQ"	"DNA"	""	""
"0000205365"	"00204335"	"1"	"00233"	"00233"	"2012-05-11 15:24:36"	""	""	"SEQ"	"DNA"	""	""
"0000205366"	"00204336"	"1"	"00233"	"00233"	"2012-05-11 15:24:36"	""	""	"SEQ"	"DNA"	""	""
"0000205367"	"00204337"	"1"	"00233"	"00233"	"2012-05-11 15:24:36"	""	""	"SEQ"	"DNA"	""	""
"0000205368"	"00204338"	"1"	"00233"	"00233"	"2012-05-11 15:24:36"	""	""	"SEQ"	"DNA"	""	""
"0000205369"	"00204339"	"1"	"00233"	"00233"	"2012-05-11 15:24:36"	""	""	"SEQ"	"DNA"	""	""
"0000268364"	"00267235"	"1"	"03468"	"03468"	"2019-11-02 23:45:48"	""	""	"SEQ"	"DNA"	"BLOOD"	""
"0000268365"	"00267236"	"1"	"03468"	"03468"	"2019-11-03 00:32:15"	""	""	"SEQ"	"DNA"	"BLOOD"	""
"0000286300"	"00285150"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286302"	"00285152"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286304"	"00285154"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286305"	"00285155"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286306"	"00285156"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286307"	"00285157"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286308"	"00285158"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286310"	"00285160"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286311"	"00285161"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286316"	"00285166"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286318"	"00285168"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286319"	"00285169"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286320"	"00285170"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286321"	"00285171"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286322"	"00285172"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286323"	"00285173"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286324"	"00285174"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286325"	"00285175"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286326"	"00285176"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286328"	"00285178"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286329"	"00285179"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286331"	"00285181"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286332"	"00285182"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286336"	"00285186"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286338"	"00285188"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286339"	"00285189"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286340"	"00285190"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286341"	"00285191"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286342"	"00285192"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000287012"	"00285854"	"1"	"00006"	"00006"	"2020-02-08 14:06:04"	""	""	"RT-PCR;SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000287014"	"00285856"	"1"	"00006"	"00006"	"2020-02-08 15:15:48"	""	""	"SEQ"	"DNA"	""	""
"0000287015"	"00285857"	"1"	"00006"	"00006"	"2020-02-08 15:15:48"	""	""	"SEQ"	"DNA"	""	""
"0000287044"	"00285886"	"1"	"00006"	"00006"	"2020-02-08 17:03:12"	""	""	"SEQ"	"DNA"	""	""
"0000288269"	"00287104"	"1"	"03590"	"03590"	"2020-02-12 16:19:14"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000288337"	"00287170"	"1"	"03590"	"03590"	"2020-02-13 17:50:12"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000288529"	"00287173"	"1"	"03590"	"03590"	"2020-02-14 11:25:52"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"WES"
"0000289428"	"00288259"	"1"	"03590"	"03590"	"2020-02-18 15:51:53"	""	""	"PCR"	"DNA"	"blood"	""
"0000289429"	"00288260"	"1"	"03590"	"03590"	"2020-02-18 16:05:39"	""	""	"PCR"	"DNA"	"blood"	""
"0000290541"	"00289370"	"1"	"03590"	"03590"	"2020-03-05 17:42:11"	""	""	"PCR"	"DNA"	"blood"	""
"0000328296"	"00327082"	"1"	"03611"	"03611"	"2021-01-20 04:13:53"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000396802"	"00395564"	"1"	"00000"	"03840"	"2021-12-08 14:12:08"	""	""	"?"	"DNA"	""	"whole exome sequencing"
"0000420988"	"00419683"	"1"	"01164"	"01164"	"2022-10-21 11:51:29"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000451366"	"00449771"	"1"	"03544"	"03544"	"2024-05-15 06:32:11"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	"WES"
"0000459734"	"00458115"	"1"	"04663"	"04663"	"2024-12-02 15:18:52"	""	""	"SEQ-NG"	"DNA"	"Peripheral blood"	"WES"
"0000470250"	"00468582"	"1"	"00006"	"00006"	"2025-11-13 13:02:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 59
"{{screeningid}}"	"{{geneid}}"
"0000059099"	"ACTG1"
"0000117743"	"ACTG1"
"0000205355"	"ACTG1"
"0000205356"	"ACTG1"
"0000205357"	"ACTG1"
"0000205358"	"ACTG1"
"0000205359"	"ACTG1"
"0000205360"	"ACTG1"
"0000205361"	"ACTG1"
"0000205362"	"ACTG1"
"0000205363"	"ACTG1"
"0000205364"	"ACTG1"
"0000205365"	"ACTG1"
"0000205366"	"ACTG1"
"0000205367"	"ACTG1"
"0000205368"	"ACTG1"
"0000205369"	"ACTG1"
"0000268364"	"ACTG1"
"0000268365"	"ACTG1"
"0000286300"	"ACTG1"
"0000286302"	"ACTG1"
"0000286304"	"ACTG1"
"0000286305"	"ACTG1"
"0000286306"	"ACTG1"
"0000286307"	"ACTG1"
"0000286308"	"ACTG1"
"0000286310"	"ACTG1"
"0000286311"	"ACTG1"
"0000286316"	"ACTG1"
"0000286318"	"ACTG1"
"0000286319"	"ACTG1"
"0000286320"	"ACTG1"
"0000286321"	"ACTG1"
"0000286322"	"ACTG1"
"0000286323"	"ACTG1"
"0000286324"	"ACTG1"
"0000286325"	"ACTG1"
"0000286326"	"ACTG1"
"0000286328"	"ACTG1"
"0000286329"	"ACTG1"
"0000286331"	"ACTG1"
"0000286332"	"ACTG1"
"0000286336"	"ACTG1"
"0000286338"	"ACTG1"
"0000286339"	"ACTG1"
"0000286340"	"ACTG1"
"0000286341"	"ACTG1"
"0000286342"	"ACTG1"
"0000287012"	"ZIC1"
"0000287014"	"ACTG1"
"0000287015"	"ACTG1"
"0000287044"	"ACTG1"
"0000288337"	"ACTG1"
"0000288529"	"ACTG1"
"0000289428"	"ACTG1"
"0000289429"	"ACTG1"
"0000290541"	"ACTG1"
"0000396802"	"ACTG1"
"0000420988"	"ACTG1"


## 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 = 219
"{{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}}"
"0000002673"	"0"	"30"	"17"	"79477898"	"79477898"	"del"	"9.59813E-6"	"00037"	"ACTG1_000020"	"g.79477898del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.81510872del"	""	"likely benign"	""
"0000005745"	"0"	"30"	"17"	"79478007"	"79478007"	"subst"	"0.288175"	"00037"	"ACTG1_000019"	"g.79478007G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.81510981G>A"	""	"likely benign"	""
"0000005746"	"3"	"30"	"17"	"79478019"	"79478019"	"subst"	"0.788278"	"00037"	"ACTG1_000018"	"g.79478019G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.81510993G>A"	""	"likely benign"	""
"0000005747"	"0"	"30"	"17"	"79478870"	"79478870"	"subst"	"0.328249"	"00037"	"ACTG1_000017"	"g.79478870C>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.81511844C>A"	""	"likely benign"	""
"0000005748"	"0"	"30"	"17"	"79478871"	"79478871"	"subst"	"0.34823"	"00037"	"ACTG1_000016"	"g.79478871C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.81511845C>T"	""	"likely benign"	""
"0000013707"	"0"	"30"	"17"	"79478007"	"79478007"	"subst"	"0.288175"	"00037"	"ACTG1_000019"	"g.79478007G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.81510981G>A"	""	"likely benign"	""
"0000013708"	"0"	"30"	"17"	"79478019"	"79478019"	"subst"	"0.788278"	"00037"	"ACTG1_000018"	"g.79478019G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.81510993G>A"	""	"likely benign"	""
"0000089897"	"0"	"70"	"17"	"79478384"	"79478390"	"del"	"0"	"01551"	"ACTG1_000021"	"g.79478384_79478390del"	""	"{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}"	""	"626_632delTGCGCGA"	""	"Germline"	""	""	"0"	""	""	"g.81511358_81511364del"	""	"likely pathogenic"	""
"0000129028"	"1"	"70"	"17"	"79478243"	"79478243"	"subst"	"0"	"01740"	"ACTG1_000022"	"g.79478243G>A"	""	"{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.81511217G>A"	""	"likely pathogenic"	""
"0000188742"	"0"	"70"	"17"	"79478582"	"79478582"	"subst"	"0"	"00110"	"ACTG1_000023"	"g.79478582G>A"	""	"{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.81511556G>A"	""	"likely pathogenic"	""
"0000254431"	"0"	"30"	"17"	"79477818"	"79477818"	"subst"	"0.0221604"	"01943"	"ACTG1_000031"	"g.79477818A>G"	""	""	""	"ACTG1(NM_001199954.2):c.1026T>C (p.G342=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81510792A>G"	""	"likely benign"	""
"0000254942"	"0"	"30"	"17"	"79478485"	"79478485"	"subst"	"0.000834874"	"01943"	"ACTG1_000046"	"g.79478485A>G"	""	""	""	"ACTG1(NM_001199954.2):c.531T>C (p.R177=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81511459A>G"	""	"likely benign"	""
"0000258916"	"0"	"10"	"17"	"79478916"	"79478916"	"subst"	"0.496552"	"02325"	"ACTG1_000052"	"g.79478916G>T"	""	""	""	"ACTG1(NM_001199954.2):c.363+13C>A, ACTG1(NM_001199954.3):c.363+13C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81511890G>T"	""	"benign"	""
"0000258917"	"0"	"10"	"17"	"79478019"	"79478019"	"subst"	"0.788278"	"02325"	"ACTG1_000018"	"g.79478019G>A"	""	""	""	"ACTG1(NM_001199954.2):c.918C>T (p.Y306=), ACTG1(NM_001199954.3):c.918C>T (p.Y306=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81510993G>A"	""	"benign"	""
"0000259929"	"0"	"50"	"17"	"79478295"	"79478295"	"subst"	"0"	"02329"	"ACTG1_000038"	"g.79478295C>G"	""	""	""	"ACTG1(NM_001199954.2):c.721G>C (p.E241Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81511269C>G"	""	"VUS"	""
"0000261850"	"0"	"10"	"17"	"79479389"	"79479389"	"subst"	"0.00399301"	"01943"	"ACTG1_000065"	"g.79479389G>A"	""	""	""	"ACTG1(NM_001199954.1):c.-6-3C>T (p.(=)), ACTG1(NM_001199954.2):c.-6-3C>T, ACTG1(NM_001199954.3):c.-6-3C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81512363G>A"	""	"benign"	""
"0000261851"	"0"	"30"	"17"	"79477830"	"79477830"	"subst"	"0.0221554"	"01943"	"ACTG1_000032"	"g.79477830C>T"	""	""	""	"ACTG1(NM_001199954.2):c.1014G>A (p.S338=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81510804C>T"	""	"likely benign"	""
"0000261852"	"0"	"30"	"17"	"79477815"	"79477815"	"subst"	"0.00120665"	"01943"	"ACTG1_000030"	"g.79477815G>A"	""	""	""	"ACTG1(NM_001199954.2):c.1029C>T (p.G343=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81510789G>A"	""	"likely benign"	""
"0000261853"	"0"	"30"	"17"	"79477812"	"79477812"	"subst"	"0"	"01943"	"ACTG1_000029"	"g.79477812G>A"	""	""	""	"ACTG1(NM_001199954.2):c.1032C>T (p.S344=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81510786G>A"	""	"likely benign"	""
"0000261854"	"0"	"30"	"17"	"79477809"	"79477809"	"subst"	"8.12427E-6"	"01943"	"ACTG1_000028"	"g.79477809G>A"	""	""	""	"ACTG1(NM_001199954.2):c.1035C>T (p.I345=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81510783G>A"	""	"likely benign"	""
"0000261855"	"0"	"30"	"17"	"79477737"	"79477737"	"subst"	"0"	"01943"	"ACTG1_000026"	"g.79477737G>T"	""	""	""	"ACTG1(NM_001199954.2):c.1107C>A (p.I369=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81510711G>T"	""	"likely benign"	""
"0000261856"	"0"	"30"	"17"	"79477737"	"79477737"	"subst"	"0.000134021"	"01943"	"ACTG1_000027"	"g.79477737G>A"	""	""	""	"ACTG1(NM_001199954.2):c.1107C>T (p.I369=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81510711G>A"	""	"likely benign"	""
"0000261857"	"0"	"30"	"17"	"79477731"	"79477731"	"subst"	"0.000670111"	"01943"	"ACTG1_000025"	"g.79477731G>A"	""	""	""	"ACTG1(NM_001199954.2):c.1113C>T (p.H371=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81510705G>A"	""	"likely benign"	""
"0000261858"	"0"	"10"	"17"	"79477716"	"79477716"	"subst"	"0.0221788"	"01943"	"ACTG1_000024"	"g.79477716T>C"	""	""	""	"ACTG1(NM_001199954.2):c.1128A>G (p.*376=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81510690T>C"	""	"benign"	""
"0000261859"	"0"	"30"	"17"	"79479176"	"79479176"	"subst"	"0.00080974"	"01943"	"ACTG1_000061"	"g.79479176G>A"	""	""	""	"ACTG1(NM_001199954.2):c.124-8C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81512150G>A"	""	"likely benign"	""
"0000261860"	"0"	"30"	"17"	"79479166"	"79479166"	"subst"	"0.000256348"	"01943"	"ACTG1_000060"	"g.79479166G>A"	""	""	""	"ACTG1(NM_001199954.2):c.126C>T (p.G42=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81512140G>A"	""	"likely benign"	""
"0000261861"	"0"	"10"	"17"	"79479366"	"79479366"	"subst"	"0.00146211"	"01943"	"ACTG1_000064"	"g.79479366G>A"	""	""	""	"ACTG1(NM_001199954.2):c.15C>T (p.I5=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81512340G>A"	""	"benign"	""
"0000261862"	"0"	"30"	"17"	"79479115"	"79479115"	"subst"	"0.0236459"	"01943"	"ACTG1_000059"	"g.79479115C>T"	""	""	""	"ACTG1(NM_001199954.2):c.177G>A (p.Q59=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81512089C>T"	""	"likely benign"	""
"0000261863"	"0"	"50"	"17"	"79479112"	"79479112"	"subst"	"0.000227703"	"01943"	"ACTG1_000058"	"g.79479112G>A"	""	""	""	"ACTG1(NM_001199954.2):c.180C>T (p.S60=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81512086G>A"	""	"VUS"	""
"0000261864"	"0"	"30"	"17"	"79479363"	"79479363"	"subst"	"0.00111281"	"01943"	"ACTG1_000063"	"g.79479363G>A"	""	""	""	"ACTG1(NM_001199954.2):c.18C>T (p.A6=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81512337G>A"	""	"likely benign"	""
"0000261865"	"0"	"30"	"17"	"79479064"	"79479064"	"subst"	"0.000142199"	"01943"	"ACTG1_000057"	"g.79479064G>A"	""	""	""	"ACTG1(NM_001199954.2):c.228C>T (p.V76=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81512038G>A"	""	"likely benign"	""
"0000261866"	"0"	"30"	"17"	"79479061"	"79479061"	"subst"	"0.000227528"	"01943"	"ACTG1_000056"	"g.79479061G>A"	""	""	""	"ACTG1(NM_001199954.2):c.231C>T (p.T77=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81512035G>A"	""	"likely benign"	""
"0000261867"	"0"	"30"	"17"	"79479037"	"79479037"	"subst"	"3.24981E-5"	"01943"	"ACTG1_000054"	"g.79479037G>A"	""	""	""	"ACTG1(NM_001199954.2):c.255C>T (p.I85=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81512011G>A"	""	"likely benign"	""
"0000261868"	"0"	"30"	"17"	"79478983"	"79478983"	"subst"	"1.21929E-5"	"01943"	"ACTG1_000053"	"g.79478983C>T"	""	""	""	"ACTG1(NM_001199954.2):c.309G>A (p.V103=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81511957C>T"	""	"likely benign"	""
"0000261869"	"0"	"10"	"17"	"79478916"	"79478916"	"subst"	"0.496552"	"01943"	"ACTG1_000052"	"g.79478916G>T"	""	""	""	"ACTG1(NM_001199954.2):c.363+13C>A, ACTG1(NM_001199954.3):c.363+13C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81511890G>T"	""	"benign"	""
"0000261870"	"0"	"30"	"17"	"79478915"	"79478915"	"subst"	"0"	"01943"	"ACTG1_000051"	"g.79478915C>T"	""	""	""	"ACTG1(NM_001199954.2):c.363+14G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81511889C>T"	""	"likely benign"	""
"0000261871"	"0"	"30"	"17"	"79478617"	"79478617"	"subst"	"0.0161175"	"01943"	"ACTG1_000050"	"g.79478617G>A"	""	""	""	"ACTG1(NM_001199954.2):c.399C>T (p.Y133=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81511591G>A"	""	"likely benign"	""
"0000261872"	"0"	"30"	"17"	"79479342"	"79479342"	"subst"	"0.000926054"	"01943"	"ACTG1_000062"	"g.79479342G>A"	""	""	""	"ACTG1(NM_001199954.2):c.39C>T (p.G13=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81512316G>A"	""	"likely benign"	""
"0000261873"	"0"	"30"	"17"	"79478602"	"79478602"	"subst"	"0.000562233"	"01943"	"ACTG1_000049"	"g.79478602G>A"	""	""	""	"ACTG1(NM_001199954.2):c.414C>T (p.A138=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81511576G>A"	""	"likely benign"	""
"0000261874"	"0"	"30"	"17"	"79478545"	"79478545"	"subst"	"0.00285551"	"01943"	"ACTG1_000048"	"g.79478545G>A"	""	""	""	"ACTG1(NM_001199954.2):c.471C>T (p.D157=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81511519G>A"	""	"likely benign"	""
"0000261875"	"0"	"30"	"17"	"79478509"	"79478509"	"subst"	"0"	"01943"	"ACTG1_000047"	"g.79478509G>A"	""	""	""	"ACTG1(NM_001199954.2):c.507C>T (p.Y169=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81511483G>A"	""	"likely benign"	""
"0000261876"	"0"	"30"	"17"	"79478470"	"79478470"	"subst"	"0.000240253"	"01943"	"ACTG1_000045"	"g.79478470G>A"	""	""	""	"ACTG1(NM_001199954.2):c.546C>T (p.G182=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81511444G>A"	""	"likely benign"	""
"0000261877"	"0"	"30"	"17"	"79478452"	"79478452"	"subst"	"0.000174942"	"01943"	"ACTG1_000044"	"g.79478452G>A"	""	""	""	"ACTG1(NM_001199954.2):c.564C>T (p.Y188=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81511426G>A"	""	"likely benign"	""
"0000261878"	"0"	"30"	"17"	"79478422"	"79478422"	"subst"	"4.06597E-6"	"01943"	"ACTG1_000043"	"g.79478422G>A"	""	""	""	"ACTG1(NM_001199954.2):c.594C>T (p.Y198=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81511396G>A"	""	"likely benign"	""
"0000261880"	"0"	"30"	"17"	"79478332"	"79478332"	"subst"	"0.00225053"	"01943"	"ACTG1_000041"	"g.79478332G>A"	""	""	""	"ACTG1(NM_001199954.2):c.684C>T (p.A228=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81511306G>A"	""	"likely benign"	""
"0000261881"	"0"	"10"	"17"	"79478323"	"79478323"	"subst"	"0.00126846"	"01943"	"ACTG1_000040"	"g.79478323T>C"	""	""	""	"ACTG1(NM_001199954.2):c.693A>G (p.A231=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81511297T>C"	""	"benign"	""
"0000261882"	"0"	"50"	"17"	"79478320"	"79478322"	"del"	"0"	"01943"	"ACTG1_000039"	"g.79478320_79478322del"	""	""	""	"ACTG1(NM_001199954.2):c.699_701delCTC (p.S235del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81511294_81511296del"	""	"VUS"	""
"0000261883"	"0"	"30"	"17"	"79478287"	"79478287"	"subst"	"0.0168985"	"01943"	"ACTG1_000037"	"g.79478287G>A"	""	""	""	"ACTG1(NM_001199954.2):c.729C>T (p.P243=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81511261G>A"	""	"likely benign"	""
"0000261884"	"0"	"30"	"17"	"79478199"	"79478199"	"subst"	"4.87936E-5"	"01943"	"ACTG1_000036"	"g.79478199G>A"	""	""	""	"ACTG1(NM_001199954.2):c.802+15C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81511173G>A"	""	"likely benign"	""
"0000261885"	"0"	"50"	"17"	"79478070"	"79478070"	"subst"	"0"	"01943"	"ACTG1_000035"	"g.79478070G>C"	""	""	""	"ACTG1(NM_001199954.2):c.867C>G (p.I289M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81511044G>C"	""	"VUS"	""
"0000261886"	"0"	"10"	"17"	"79478019"	"79478019"	"subst"	"0.788278"	"01943"	"ACTG1_000018"	"g.79478019G>A"	""	""	""	"ACTG1(NM_001199954.2):c.918C>T (p.Y306=), ACTG1(NM_001199954.3):c.918C>T (p.Y306=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81510993G>A"	""	"benign"	""
"0000261887"	"0"	"50"	"17"	"79478017"	"79478017"	"subst"	"4.06194E-6"	"01943"	"ACTG1_000034"	"g.79478017G>A"	""	""	""	"ACTG1(NM_001199954.2):c.920C>T (p.P307L), ACTG1(NM_001614.5):c.920C>T (p.(Pro307Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81510991G>A"	""	"VUS"	""
"0000261888"	"0"	"10"	"17"	"79478007"	"79478007"	"subst"	"0.288175"	"01943"	"ACTG1_000019"	"g.79478007G>A"	""	""	""	"ACTG1(NM_001199954.2):c.930C>T (p.A310=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81510981G>A"	""	"benign"	""
"0000325765"	"0"	"50"	"17"	"79479055"	"79479055"	"subst"	"0"	"01804"	"ACTG1_000055"	"g.79479055C>A"	""	""	""	"ACTG1(NM_001199954.1):c.237G>T (p.(Trp79Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81512029C>A"	""	"VUS"	""
"0000338774"	"0"	"10"	"17"	"79478916"	"79478916"	"subst"	"0.496552"	"02327"	"ACTG1_000052"	"g.79478916G>T"	""	""	""	"ACTG1(NM_001199954.2):c.363+13C>A, ACTG1(NM_001199954.3):c.363+13C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81511890G>T"	""	"benign"	""
"0000338775"	"0"	"30"	"17"	"79479792"	"79479792"	"subst"	"0.0257798"	"02327"	"ACTG1_000079"	"g.79479792G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81512766G>A"	""	"likely benign"	""
"0000338776"	"0"	"10"	"17"	"79479808"	"79479808"	"subst"	"0.777404"	"02327"	"ACTG1_000080"	"g.79479808C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81512782C>T"	""	"benign"	""
"0000339149"	"0"	"50"	"17"	"79479283"	"79479283"	"subst"	"0"	"02327"	"ACTG1_000078"	"g.79479283G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81512257G>C"	""	"VUS"	""
"0000340468"	"0"	"10"	"17"	"79477818"	"79477818"	"subst"	"0.0221604"	"02327"	"ACTG1_000031"	"g.79477818A>G"	""	""	""	"ACTG1(NM_001199954.2):c.1026T>C (p.G342=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81510792A>G"	""	"benign"	""
"0000340469"	"0"	"10"	"17"	"79477830"	"79477830"	"subst"	"0.0221554"	"02327"	"ACTG1_000032"	"g.79477830C>T"	""	""	""	"ACTG1(NM_001199954.2):c.1014G>A (p.S338=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81510804C>T"	""	"benign"	""
"0000340470"	"0"	"10"	"17"	"79478007"	"79478007"	"subst"	"0.288175"	"02327"	"ACTG1_000019"	"g.79478007G>A"	""	""	""	"ACTG1(NM_001199954.2):c.930C>T (p.A310=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81510981G>A"	""	"benign"	""
"0000340471"	"0"	"10"	"17"	"79478019"	"79478019"	"subst"	"0.788278"	"02327"	"ACTG1_000018"	"g.79478019G>A"	""	""	""	"ACTG1(NM_001199954.2):c.918C>T (p.Y306=), ACTG1(NM_001199954.3):c.918C>T (p.Y306=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81510993G>A"	""	"benign"	""
"0000340472"	"0"	"10"	"17"	"79478287"	"79478287"	"subst"	"0.0168985"	"02327"	"ACTG1_000037"	"g.79478287G>A"	""	""	""	"ACTG1(NM_001199954.2):c.729C>T (p.P243=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81511261G>A"	""	"benign"	""
"0000340473"	"0"	"10"	"17"	"79478617"	"79478617"	"subst"	"0.0161175"	"02327"	"ACTG1_000050"	"g.79478617G>A"	""	""	""	"ACTG1(NM_001199954.2):c.399C>T (p.Y133=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81511591G>A"	""	"benign"	""
"0000340474"	"0"	"10"	"17"	"79479115"	"79479115"	"subst"	"0.0236459"	"02327"	"ACTG1_000059"	"g.79479115C>T"	""	""	""	"ACTG1(NM_001199954.2):c.177G>A (p.Q59=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81512089C>T"	""	"benign"	""
"0000341173"	"0"	"70"	"17"	"79478586"	"79478586"	"subst"	"0"	"02327"	"ACTG1_000072"	"g.79478586C>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81511560C>G"	""	"likely pathogenic"	""
"0000342760"	"0"	"50"	"17"	"79477730"	"79477730"	"subst"	"0"	"02327"	"ACTG1_000066"	"g.79477730G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81510704G>A"	""	"VUS"	""
"0000344042"	"0"	"50"	"17"	"79478063"	"79478063"	"subst"	"0"	"02327"	"ACTG1_000067"	"g.79478063C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81511037C>T"	""	"VUS"	""
"0000344128"	"0"	"90"	"17"	"79479141"	"79479141"	"subst"	"0"	"02327"	"ACTG1_000077"	"g.79479141C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81512115C>T"	""	"pathogenic"	""
"0000344343"	"0"	"70"	"17"	"79478084"	"79478084"	"subst"	"0"	"02327"	"ACTG1_000068"	"g.79478084A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81511058A>G"	""	"likely pathogenic"	""
"0000346072"	"0"	"30"	"17"	"79479166"	"79479166"	"subst"	"0.000256348"	"02327"	"ACTG1_000060"	"g.79479166G>A"	""	""	""	"ACTG1(NM_001199954.2):c.126C>T (p.G42=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81512140G>A"	""	"likely benign"	""
"0000346532"	"0"	"50"	"17"	"79479030"	"79479030"	"subst"	"0"	"02327"	"ACTG1_000076"	"g.79479030G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81512004G>A"	""	"VUS"	""
"0000347379"	"0"	"90"	"17"	"79478939"	"79478939"	"subst"	"0"	"02327"	"ACTG1_000008"	"g.79478939T>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81511913T>A"	""	"pathogenic"	""
"0000348009"	"0"	"50"	"17"	"79478230"	"79478230"	"subst"	"0"	"02327"	"ACTG1_000071"	"g.79478230G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81511204G>C"	""	"VUS"	""
"0000348142"	"0"	"90"	"17"	"79478957"	"79478957"	"subst"	"0"	"02327"	"ACTG1_000074"	"g.79478957G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81511931G>A"	""	"pathogenic"	""
"0000348324"	"0"	"90"	"17"	"79478243"	"79478243"	"subst"	"0"	"02327"	"ACTG1_000022"	"g.79478243G>A"	""	""	""	"ACTG1(NM_001199954.3):c.773C>T (p.P258L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81511217G>A"	""	"pathogenic"	""
"0000349408"	"0"	"90"	"17"	"79478104"	"79478104"	"subst"	"0"	"02327"	"ACTG1_000011"	"g.79478104G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81511078G>A"	""	"pathogenic"	""
"0000349652"	"0"	"70"	"17"	"79479026"	"79479026"	"subst"	"0"	"02327"	"ACTG1_000007"	"g.79479026G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81512000G>A"	""	"likely pathogenic"	""
"0000434722"	"0"	"90"	"17"	"79479026"	"79479026"	"subst"	"0"	"00233"	"ACTG1_000007"	"g.79479026G>A"	""	"{PMID:Zhu 2003:13680526}, {EXP:032434}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.81512000G>A"	"rs28999111"	"pathogenic"	""
"0000434723"	"0"	"95"	"17"	"79478939"	"79478939"	"subst"	"0"	"00233"	"ACTG1_000008"	"g.79478939T>A"	""	"{PMID:Zhu et al (2003):13680526}, {dbSNP:104894544}"	""	""	"submitted through SIB; {EXP:032435}"	"Unknown"	""	""	"0"	""	""	"g.81511913T>A"	""	"pathogenic"	""
"0000434724"	"0"	"95"	"17"	"79478938"	"79478938"	"subst"	"0"	"00233"	"ACTG1_000013"	"g.79478938C>G"	""	"{PMID:Morín et al (2009):19477959}"	""	""	"submitted through SIB; {EXP:067824}"	"Unknown"	""	""	"0"	""	""	"g.81511912C>G"	""	"pathogenic"	""
"0000434725"	"0"	"90"	"17"	"79478933"	"79478933"	"subst"	"0"	"00233"	"ACTG1_000001"	"g.79478933G>A"	""	"{PMID:Rivière 2012:22366783}"	""	""	"submitted through SIB; {EXP:067814}"	"De novo"	""	""	"0"	""	""	"g.81511907G>A"	""	"pathogenic (dominant)"	""
"0000434726"	"0"	"95"	"17"	"79478652"	"79478652"	"subst"	"0"	"00233"	"ACTG1_000015"	"g.79478652T>C"	""	"{PMID:Liu et al (2008):18804074}"	""	""	"submitted through SIB; {EXP:067825}"	"Unknown"	""	""	"0"	""	""	"g.81511626T>C"	""	"pathogenic"	""
"0000434727"	"0"	"90"	"17"	"79478612"	"79478612"	"subst"	"0"	"00233"	"ACTG1_000002"	"g.79478612G>A"	""	"{PMID:Rivière 2012:22366783}"	""	""	"submitted through SIB; {EXP:067815}"	"De novo"	""	""	"0"	""	""	"g.81511586G>A"	""	"pathogenic (dominant)"	""
"0000434728"	"0"	"90"	"17"	"79478552"	"79478552"	"subst"	"0"	"00233"	"ACTG1_000003"	"g.79478552G>A"	""	"{PMID:Rivière 2012:22366783}"	""	""	"submitted through SIB; {EXP:067816}"	"De novo"	""	""	"0"	""	""	"g.81511526G>A"	""	"pathogenic (dominant)"	""
"0000434729"	"0"	"90"	"17"	"79478408"	"79478408"	"subst"	"0"	"00233"	"ACTG1_000004"	"g.79478408G>T"	""	"{PMID:Rivière 2012:22366783}"	""	""	"submitted through SIB; {EXP:067817}"	"De novo"	""	""	"0"	""	""	"g.81511382G>T"	""	"pathogenic (dominant)"	""
"0000434730"	"0"	"95"	"17"	"79478295"	"79478295"	"subst"	"0"	"00233"	"ACTG1_000014"	"g.79478295C>T"	""	"{PMID:Morín et al (2009):19477959}"	""	""	"submitted through SIB; {EXP:067826}"	"Unknown"	""	""	"0"	""	""	"g.81511269C>T"	""	"pathogenic"	""
"0000434731"	"0"	"90"	"17"	"79478256"	"79478256"	"subst"	"0"	"00233"	"ACTG1_000005"	"g.79478256G>A"	""	"{PMID:Rivière 2012:22366783}"	""	""	"submitted through SIB; {EXP:067818}"	"De novo"	""	""	"0"	""	""	"g.81511230G>A"	""	"pathogenic (dominant)"	""
"0000434732"	"0"	"90"	"17"	"79478250"	"79478250"	"subst"	"0"	"00233"	"ACTG1_000006"	"g.79478250G>A"	""	"{PMID:Rivière 2012:22366783}"	""	""	"submitted through SIB; {EXP:067819}"	"De novo"	""	""	"0"	""	""	"g.81511224G>A"	""	"pathogenic (dominant)"	""
"0000434733"	"0"	"95"	"17"	"79478225"	"79478225"	"subst"	"0"	"00233"	"ACTG1_000009"	"g.79478225G>A"	""	"{PMID:Zhu et al (2003):13680526}, {dbSNP:104894546}"	""	""	"submitted through SIB; {EXP:032436}"	"Unknown"	""	""	"0"	""	""	"g.81511199G>A"	""	"pathogenic"	""
"0000434734"	"0"	"95"	"17"	"79478104"	"79478104"	"subst"	"0"	"00233"	"ACTG1_000011"	"g.79478104G>A"	""	"{PMID:van Wijk et al (2003):14684684}, {dbSNP:28999112}"	""	""	"submitted through SIB; {EXP:032437}"	"Unknown"	""	""	"0"	""	""	"g.81511078G>A"	""	"pathogenic"	""
"0000434735"	"0"	"95"	"17"	"79477850"	"79477850"	"subst"	"0"	"00233"	"ACTG1_000010"	"g.79477850G>C"	""	"{PMID:Zhu et al (2003):13680526}, {dbSNP:104894545}"	""	""	"submitted through SIB; {EXP:032438}"	"Unknown"	""	""	"0"	""	""	"g.81510824G>C"	""	"pathogenic"	""
"0000434736"	"0"	"95"	"17"	"79477735"	"79477735"	"subst"	"0"	"00233"	"ACTG1_000012"	"g.79477735A>G"	""	"{PMID:Rendtorff et al (2006):16773128}, {dbSNP:104894547}"	""	""	"submitted through SIB; {EXP:032439}"	"Unknown"	""	""	"0"	""	""	"g.81510709A>G"	""	"pathogenic"	""
"0000563661"	"0"	"30"	"17"	"79477827"	"79477827"	"subst"	"0.000544357"	"01943"	"ACTG1_000081"	"g.79477827C>G"	""	""	""	"ACTG1(NM_001199954.2):c.1017G>C (p.V339=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.81510801C>G"	""	"likely benign"	""
"0000563662"	"0"	"70"	"17"	"79477841"	"79477841"	"subst"	"0"	"01943"	"ACTG1_000082"	"g.79477841G>A"	""	""	""	"ACTG1(NM_001199954.2):c.1003C>T (p.R335C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.81510815G>A"	""	"likely pathogenic"	""
"0000563663"	"0"	"90"	"17"	"79477841"	"79477841"	"subst"	"0"	"02327"	"ACTG1_000082"	"g.79477841G>A"	""	""	""	"ACTG1(NM_001199954.2):c.1003C>T (p.R335C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.81510815G>A"	""	"pathogenic"	""
"0000563664"	"0"	"30"	"17"	"79477866"	"79477866"	"dup"	"0"	"01943"	"ACTG1_000083"	"g.79477866dup"	""	""	""	"ACTG1(NM_001199954.2):c.985-5dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.81510840dup"	""	"likely benign"	""
"0000563665"	"0"	"30"	"17"	"79477946"	"79477946"	"subst"	"5.68865E-5"	"01804"	"ACTG1_000084"	"g.79477946G>A"	""	""	""	"ACTG1(NM_001199954.1):c.984+7C>T (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.81510920G>A"	""	"likely benign"	""
"0000563666"	"0"	"30"	"17"	"79477957"	"79477957"	"subst"	"0"	"02327"	"ACTG1_000085"	"g.79477957A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.81510931A>G"	""	"likely benign"	""
"0000563667"	"0"	"30"	"17"	"79478060"	"79478060"	"subst"	"0.000235579"	"01943"	"ACTG1_000086"	"g.79478060G>A"	""	""	""	"ACTG1(NM_001199954.2):c.877C>T (p.L293=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.81511034G>A"	""	"likely benign"	""
"0000563668"	"0"	"50"	"17"	"79478078"	"79478078"	"subst"	"0"	"02327"	"ACTG1_000087"	"g.79478078C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.81511052C>T"	""	"VUS"	""
"0000563669"	"0"	"90"	"17"	"79478095"	"79478095"	"subst"	"0"	"02327"	"ACTG1_000088"	"g.79478095G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.81511069G>C"	""	"pathogenic"	""
"0000563670"	"0"	"30"	"17"	"79478141"	"79478141"	"subst"	"6.49905E-5"	"01943"	"ACTG1_000089"	"g.79478141G>A"	""	""	""	"ACTG1(NM_001199954.2):c.803-7C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.81511115G>A"	""	"likely benign"	""
"0000563671"	"0"	"10"	"17"	"79478236"	"79478236"	"subst"	"0.00304958"	"01943"	"ACTG1_000090"	"g.79478236C>T"	""	""	""	"ACTG1(NM_001199954.2):c.780G>A (p.A260=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.81511210C>T"	""	"benign"	""
"0000563672"	"0"	"90"	"17"	"79478250"	"79478250"	"subst"	"0"	"02327"	"ACTG1_000006"	"g.79478250G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.81511224G>A"	""	"pathogenic"	""
"0000563673"	"0"	"90"	"17"	"79478309"	"79478309"	"subst"	"0"	"02327"	"ACTG1_000091"	"g.79478309A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.81511283A>G"	""	"pathogenic"	""
"0000563674"	"0"	"50"	"17"	"79478315"	"79478315"	"subst"	"4.07654E-6"	"02325"	"ACTG1_000092"	"g.79478315G>A"	""	""	""	"ACTG1(NM_001199954.3):c.701C>T (p.S234F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.81511289G>A"	""	"VUS"	""
"0000563675"	"0"	"70"	"17"	"79478358"	"79478358"	"dup"	"0"	"01943"	"ACTG1_000093"	"g.79478358dup"	""	""	""	"ACTG1(NM_001199954.2):c.658dupG (p.A220Gfs*34)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.81511332dup"	""	"likely pathogenic"	""
"0000563676"	"0"	"30"	"17"	"79478404"	"79478404"	"subst"	"0.000146482"	"01943"	"ACTG1_000094"	"g.79478404G>A"	""	""	""	"ACTG1(NM_001199954.2):c.612C>T (p.A204=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.81511378G>A"	""	"likely benign"	""
"0000563677"	"0"	"70"	"17"	"79478468"	"79478468"	"subst"	"4.07186E-6"	"02327"	"ACTG1_000095"	"g.79478468C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.81511442C>T"	""	"likely pathogenic"	""
"0000563678"	"0"	"50"	"17"	"79478501"	"79478501"	"subst"	"0"	"02327"	"ACTG1_000096"	"g.79478501G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.81511475G>C"	""	"VUS"	""
"0000563679"	"0"	"50"	"17"	"79478505"	"79478505"	"subst"	"0"	"02327"	"ACTG1_000097"	"g.79478505G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.81511479G>A"	""	"VUS"	""
"0000563680"	"0"	"50"	"17"	"79478540"	"79478540"	"subst"	"0"	"02327"	"ACTG1_000098"	"g.79478540A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.81511514A>G"	""	"VUS"	""
"0000563681"	"0"	"50"	"17"	"79478617"	"79478617"	"subst"	"0"	"01943"	"ACTG1_000099"	"g.79478617G>T"	""	""	""	"ACTG1(NM_001199954.2):c.399C>A (p.Y133*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.81511591G>T"	""	"VUS"	""
"0000563682"	"0"	"30"	"17"	"79479067"	"79479067"	"subst"	"2.43787E-5"	"01943"	"ACTG1_000100"	"g.79479067G>A"	""	""	""	"ACTG1(NM_001199954.2):c.225C>T (p.I75=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.81512041G>A"	""	"likely benign"	""
"0000563683"	"0"	"70"	"17"	"79479080"	"79479080"	"subst"	"0"	"01804"	"ACTG1_000101"	"g.79479080A>G"	""	""	""	"ACTG1(NM_001614.3):c.212T>C (p.(Ile71Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.81512054A>G"	""	"likely pathogenic"	""
"0000563684"	"0"	"70"	"17"	"79479095"	"79479095"	"subst"	"0"	"02327"	"ACTG1_000102"	"g.79479095G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.81512069G>A"	""	"likely pathogenic"	""
"0000563685"	"0"	"30"	"17"	"79479359"	"79479359"	"subst"	"1.21843E-5"	"01943"	"ACTG1_000103"	"g.79479359G>A"	""	""	""	"ACTG1(NM_001199954.2):c.22C>T (p.L8=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.81512333G>A"	""	"likely benign"	""
"0000563686"	"0"	"30"	"17"	"79479389"	"79479389"	"subst"	"0.00399301"	"01804"	"ACTG1_000065"	"g.79479389G>A"	""	""	""	"ACTG1(NM_001199954.1):c.-6-3C>T (p.(=)), ACTG1(NM_001199954.2):c.-6-3C>T, ACTG1(NM_001199954.3):c.-6-3C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.81512363G>A"	""	"likely benign"	""
"0000563687"	"0"	"30"	"17"	"79479634"	"79479634"	"subst"	"0"	"01804"	"ACTG1_000104"	"g.79479634G>A"	""	""	""	"ACTG1(NM_001199954.1):c.-7+7C>T (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.81512608G>A"	""	"likely benign"	""
"0000601054"	"0"	"70"	"17"	"79479116"	"79479116"	"subst"	"0"	"03468"	"ACTG1_000106"	"g.79479116T>C"	""	"{PMID:Chacon-Camacho 2020:32028042}, {DOI:Chacon-Camacho 2020:10.1016/j.ejmg.2020.103877}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.81512090T>C"	""	"likely pathogenic (dominant)"	""
"0000601055"	"0"	"70"	"17"	"79478408"	"79478408"	"subst"	"0"	"03468"	"ACTG1_000105"	"g.79478408G>A"	""	"{PMID:Chacon-Camacho 2020:32028042}, {DOI:Chacon-Camacho 2020:10.1016/j.ejmg.2020.103877}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.81511382G>A"	""	"pathogenic (dominant)"	""
"0000616913"	"0"	"30"	"17"	"79477848"	"79477848"	"subst"	"8.12414E-6"	"01943"	"ACTG1_000107"	"g.79477848G>C"	""	""	""	"ACTG1(NM_001199954.2):c.996C>G (p.P332=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.81510822G>C"	""	"likely benign"	""
"0000616914"	"0"	"30"	"17"	"79478380"	"79478380"	"subst"	"1.21996E-5"	"01943"	"ACTG1_000108"	"g.79478380G>T"	""	""	""	"ACTG1(NM_001199954.2):c.636C>A (p.I212=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.81511354G>T"	""	"likely benign"	""
"0000616915"	"0"	"70"	"17"	"79478418"	"79478418"	"subst"	"0"	"02327"	"ACTG1_000109"	"g.79478418A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.81511392A>G"	""	"likely pathogenic"	""
"0000616916"	"0"	"30"	"17"	"79478425"	"79478425"	"subst"	"0"	"01943"	"ACTG1_000110"	"g.79478425G>C"	""	""	""	"ACTG1(NM_001199954.2):c.591C>G (p.G197=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.81511399G>C"	""	"likely benign"	""
"0000616917"	"0"	"50"	"17"	"79478969"	"79478969"	"dup"	"0"	"01943"	"ACTG1_000111"	"g.79478969dup"	""	""	""	"ACTG1(NM_001199954.2):c.328dupC (p.L110Pfs*16)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.81511943dup"	""	"VUS"	""
"0000616918"	"0"	"30"	"17"	"79479139"	"79479139"	"subst"	"4.0665E-6"	"01943"	"ACTG1_000112"	"g.79479139G>A"	""	""	""	"ACTG1(NM_001199954.2):c.153C>T (p.D51=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.81512113G>A"	""	"likely benign"	""
"0000616919"	"0"	"30"	"17"	"79479299"	"79479299"	"subst"	"0"	"02327"	"ACTG1_000113"	"g.79479299G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.81512273G>C"	""	"likely benign"	""
"0000616920"	"0"	"30"	"17"	"79479342"	"79479342"	"subst"	"0.000926054"	"02327"	"ACTG1_000062"	"g.79479342G>A"	""	""	""	"ACTG1(NM_001199954.2):c.39C>T (p.G13=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.81512316G>A"	""	"likely benign"	""
"0000616921"	"0"	"30"	"17"	"79479393"	"79479393"	"subst"	"0.000146238"	"01943"	"ACTG1_000114"	"g.79479393G>A"	""	""	""	"ACTG1(NM_001199954.2):c.-6-7C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.81512367G>A"	""	"likely benign"	""
"0000642042"	"1"	"33"	"17"	"79477734"	"79477734"	"subst"	"4.06138E-6"	"00004"	"ACTG1_000115"	"g.79477734G>T"	""	"{DB:DVD}, {PMID:Duzkale 2013:24033266}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.81510708G>T"	""	"likely benign"	""
"0000642043"	"1"	"99"	"17"	"79477735"	"79477735"	"subst"	"0"	"00004"	"ACTG1_000012"	"g.79477735A>G"	""	"{DB:DVD}, {PMID:Rendtorff 2006:16773128}, {PMID:Teig 1968:5654493}, {PMID:Shearer 1993:20301607}, {PMID:Bryan 2009:19419963}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.81510709A>G"	""	"pathogenic"	""
"0000642044"	"1"	"33"	"17"	"79477848"	"79477848"	"subst"	"0.0001178"	"00004"	"ACTG1_000116"	"g.79477848G>T"	""	"{DB:DVD}, {PMID:Duzkale 2013:24033266}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.81510822G>T"	""	"likely benign"	""
"0000642045"	"1"	"99"	"17"	"79477850"	"79477850"	"subst"	"0"	"00004"	"ACTG1_000010"	"g.79477850G>C"	""	"{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Zhu 2003:13680526}, {PMID:Bryan 2009:19419963}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.81510824G>C"	""	"pathogenic"	""
"0000642046"	"1"	"33"	"17"	"79477992"	"79477992"	"subst"	"2.03087E-5"	"00004"	"ACTG1_000117"	"g.79477992C>T"	""	"{DB:DVD}, {PMID:Duzkale 2013:24033266}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.81510966C>T"	""	"likely benign"	""
"0000642047"	"1"	"99"	"17"	"79478023"	"79478023"	"subst"	"0"	"00004"	"ACTG1_000118"	"g.79478023A>G"	""	"{DB:DVD}, {PMID:Park 2013:23506231}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.81510997A>G"	""	"pathogenic"	""
"0000642048"	"1"	"33"	"17"	"79478028"	"79478028"	"subst"	"0.000276209"	"00004"	"ACTG1_000119"	"g.79478028G>A"	""	"{DB:DVD}, {PMID:Duzkale 2013:24033266}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.81511002G>A"	""	"likely benign"	""
"0000642049"	"1"	"99"	"17"	"79478042"	"79478042"	"subst"	"0"	"00004"	"ACTG1_000120"	"g.79478042G>C"	""	"{DB:DVD}, {PMID:Miyagawa 2013:24130743}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.81511016G>C"	""	"pathogenic"	""
"0000642050"	"1"	"55"	"17"	"79478084"	"79478084"	"subst"	"0"	"00004"	"ACTG1_000068"	"g.79478084A>G"	""	"{DB:DVD}, {PMID:Duzkale 2013:24033266}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.81511058A>G"	""	"VUS"	""
"0000642051"	"1"	"99"	"17"	"79478104"	"79478104"	"subst"	"0"	"00004"	"ACTG1_000011"	"g.79478104G>A"	""	"{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:van Wijk 2003:14684684}, {PMID:Bryan 2009:19419963}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.81511078G>A"	""	"pathogenic"	""
"0000642052"	"1"	"33"	"17"	"79478109"	"79478109"	"subst"	"8.12334E-6"	"00004"	"ACTG1_000121"	"g.79478109C>T"	""	"{DB:DVD}, {PMID:Duzkale 2013:24033266}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.81511083C>T"	""	"likely benign"	""
"0000642053"	"1"	"77"	"17"	"79478214"	"79478214"	"subst"	"0"	"00004"	"ACTG1_000122"	"g.79478214C>T"	""	"{DB:DVD}, {PMID:Mutai 2013:24164807}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.81511188C>T"	""	"likely pathogenic"	""
"0000642054"	"1"	"99"	"17"	"79478225"	"79478225"	"subst"	"0"	"00004"	"ACTG1_000009"	"g.79478225G>A"	""	"{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:DeWan 2003:12519370}, {PMID:Zhu 2003:13680526}, {PMID:Bryan 2009:19419963}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.81511199G>A"	""	"pathogenic"	""
"0000642055"	"1"	"99"	"17"	"79478250"	"79478250"	"subst"	"0"	"00004"	"ACTG1_000006"	"g.79478250G>A"	""	"{DB:DVD}, {PMID:Rivière 2012:22366783}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.81511224G>A"	""	"pathogenic"	""
"0000642056"	"1"	"99"	"17"	"79478256"	"79478256"	"subst"	"0"	"00004"	"ACTG1_000005"	"g.79478256G>A"	""	"{DB:DVD}, {PMID:Rivière 2012:22366783}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.81511230G>A"	""	"pathogenic"	""
"0000642057"	"1"	"99"	"17"	"79478295"	"79478295"	"subst"	"0"	"00004"	"ACTG1_000014"	"g.79478295C>T"	""	"{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Duzkale 2013:24033266}, {PMID:Morín 2009:19477959}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.81511269C>T"	""	"pathogenic"	""
"0000642058"	"1"	"33"	"17"	"79478380"	"79478380"	"subst"	"1.21996E-5"	"00004"	"ACTG1_000108"	"g.79478380G>T"	""	"{DB:DVD}, {PMID:Duzkale 2013:24033266}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.81511354G>T"	""	"likely benign"	""
"0000642059"	"1"	"99"	"17"	"79478408"	"79478408"	"subst"	"0"	"00004"	"ACTG1_000004"	"g.79478408G>T"	""	"{DB:DVD}, {PMID:Rivière 2012:22366783}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.81511382G>T"	""	"pathogenic"	""
"0000642060"	"1"	"77"	"17"	"79478418"	"79478418"	"subst"	"0"	"00004"	"ACTG1_000123"	"g.79478418A>T"	""	"{DB:DVD}, {PMID:Richards 2008:18414213}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.81511392A>T"	""	"likely pathogenic"	""
"0000642061"	"1"	"33"	"17"	"79478440"	"79478440"	"subst"	"5.69346E-5"	"00004"	"ACTG1_000124"	"g.79478440G>A"	""	"{DB:DVD}, {PMID:Duzkale 2013:24033266}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.81511414G>A"	""	"likely benign"	""
"0000642062"	"1"	"99"	"17"	"79478457"	"79478457"	"subst"	"0"	"00004"	"ACTG1_000125"	"g.79478457C>G"	""	"{DB:DVD}, {PMID:Baek 2012:22938506}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.81511431C>G"	""	"pathogenic"	""
"0000642063"	"1"	"33"	"17"	"79478485"	"79478485"	"subst"	"0.000834874"	"00004"	"ACTG1_000046"	"g.79478485A>G"	""	"{DB:DVD}, {PMID:Duzkale 2013:24033266}, {PMID:Richards 2015:25741868}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.81511459A>G"	""	"likely benign"	""
"0000642064"	"1"	"55"	"17"	"79478495"	"79478495"	"subst"	"0"	"00004"	"ACTG1_000126"	"g.79478495G>C"	""	"{DB:DVD}, {PMID:Duzkale 2013:24033266}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.81511469G>C"	""	"VUS"	""
"0000642065"	"1"	"55"	"17"	"79478496"	"79478496"	"subst"	"0"	"00004"	"ACTG1_000127"	"g.79478496C>A"	""	"{DB:DVD}, {PMID:Richards 2008:18414213}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.81511470C>A"	""	"VUS"	""
"0000642066"	"1"	"55"	"17"	"79478497"	"79478497"	"subst"	"2.44246E-5"	"00004"	"ACTG1_000128"	"g.79478497G>A"	""	"{DB:DVD}, {PMID:Richards 2015:25741868}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.81511471G>A"	""	"VUS"	""
"0000642067"	"1"	"33"	"17"	"79478518"	"79478518"	"subst"	"4.47591E-5"	"00004"	"ACTG1_000129"	"g.79478518G>A"	""	"{DB:DVD}, {PMID:Duzkale 2013:24033266}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.81511492G>A"	""	"likely benign"	""
"0000642068"	"1"	"99"	"17"	"79478531"	"79478531"	"subst"	"0"	"00004"	"ACTG1_000130"	"g.79478531G>A"	""	"{DB:DVD}, {PMID:Miyagawa 2013:23967202}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.81511505G>A"	""	"pathogenic"	""
"0000642069"	"1"	"99"	"17"	"79478552"	"79478552"	"subst"	"0"	"00004"	"ACTG1_000003"	"g.79478552G>A"	""	"{DB:DVD}, {PMID:Richards 2008:18414213}, {PMID:Rivière 2012:22366783}, {PMID:Baraitser 1988:3351890}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.81511526G>A"	""	"pathogenic"	""
"0000642070"	"1"	"33"	"17"	"79478584"	"79478584"	"subst"	"7.73855E-5"	"00004"	"ACTG1_000131"	"g.79478584G>A"	""	"{DB:DVD}, {PMID:Duzkale 2013:24033266}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.81511558G>A"	""	"likely benign"	""
"0000642071"	"1"	"33"	"17"	"79478602"	"79478602"	"subst"	"0.000562233"	"00004"	"ACTG1_000049"	"g.79478602G>A"	""	"{DB:DVD}, {PMID:Duzkale 2013:24033266}, {PMID:Richards 2015:25741868}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.81511576G>A"	""	"likely benign"	""
"0000642072"	"1"	"99"	"17"	"79478612"	"79478612"	"subst"	"0"	"00004"	"ACTG1_000002"	"g.79478612G>A"	""	"{DB:DVD}, {PMID:Rivière 2012:22366783}, {PMID:Verloes 2015:25052316}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.81511586G>A"	""	"pathogenic"	""
"0000642073"	"1"	"99"	"17"	"79478652"	"79478652"	"subst"	"0"	"00004"	"ACTG1_000015"	"g.79478652T>C"	""	"{DB:DVD}, {PMID:Liu 2008:18804074}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.81511626T>C"	""	"pathogenic"	""
"0000642074"	"1"	"33"	"17"	"79478660"	"79478660"	"subst"	"7.8246E-5"	"00004"	"ACTG1_000132"	"g.79478660G>A"	""	"{DB:DVD}, {PMID:Duzkale 2013:24033266}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.81511634G>A"	""	"likely benign"	""
"0000642075"	"1"	"99"	"17"	"79478933"	"79478933"	"subst"	"0"	"00004"	"ACTG1_000001"	"g.79478933G>A"	""	"{DB:DVD}, {PMID:Rivière 2012:22366783}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.81511907G>A"	""	"pathogenic"	""
"0000642076"	"1"	"99"	"17"	"79478938"	"79478938"	"subst"	"0"	"00004"	"ACTG1_000013"	"g.79478938C>G"	""	"{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Morín 2009:19477959}, {PMID:Kruth 2012:22718764}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.81511912C>G"	""	"pathogenic"	""
"0000642077"	"1"	"99"	"17"	"79478939"	"79478939"	"subst"	"0"	"00004"	"ACTG1_000008"	"g.79478939T>A"	""	"{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Zhu 2003:13680526}, {PMID:Bryan 2009:19419963}, {PMID:Kruth 2012:22718764}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.81511913T>A"	""	"pathogenic"	""
"0000642078"	"1"	"33"	"17"	"79478959"	"79478959"	"subst"	"4.06352E-6"	"00004"	"ACTG1_000133"	"g.79478959G>A"	""	"{DB:DVD}, {PMID:Duzkale 2013:24033266}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.81511933G>A"	""	"likely benign"	""
"0000642079"	"1"	"99"	"17"	"79479026"	"79479026"	"subst"	"0"	"00004"	"ACTG1_000007"	"g.79479026G>A"	""	"{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Zhu 2003:13680526}, {PMID:Bryan 2009:19419963}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.81512000G>A"	""	"pathogenic"	""
"0000642080"	"1"	"33"	"17"	"79479037"	"79479037"	"subst"	"3.24981E-5"	"00004"	"ACTG1_000054"	"g.79479037G>A"	""	"{DB:DVD}, {PMID:Duzkale 2013:24033266}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.81512011G>A"	""	"likely benign"	""
"0000642081"	"1"	"77"	"17"	"79479095"	"79479095"	"subst"	"0"	"00004"	"ACTG1_000102"	"g.79479095G>A"	""	"{DB:DVD}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.81512069G>A"	""	"likely pathogenic"	""
"0000642082"	"1"	"33"	"17"	"79479133"	"79479133"	"subst"	"0.000130162"	"00004"	"ACTG1_000134"	"g.79479133G>A"	""	"{DB:DVD}, {PMID:Duzkale 2013:24033266}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.81512107G>A"	""	"likely benign"	""
"0000642083"	"1"	"99"	"17"	"79479141"	"79479141"	"subst"	"0"	"00004"	"ACTG1_000077"	"g.79479141C>T"	""	"{DB:DVD}, {PMID:de Heer 2009:19548389}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.81512115C>T"	""	"pathogenic"	""
"0000642084"	"1"	"55"	"17"	"79479300"	"79479300"	"subst"	"0.000312817"	"00004"	"ACTG1_000135"	"g.79479300G>A"	""	"{DB:DVD}, {PMID:Richards 2015:25741868}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.81512274G>A"	""	"VUS"	""
"0000642749"	"0"	"90"	"17"	"79478358"	"79478358"	"dup"	"0"	"00006"	"ACTG1_000093"	"g.79478358dup"	""	"{PMID:Vandervore 2019:30391508}"	""	""	"NMD of mRNA"	"De novo"	""	""	"0"	""	""	"g.81511332dup"	""	"likely benign"	""
"0000642752"	"0"	"90"	"17"	"79478552"	"79478552"	"subst"	"0"	"00006"	"ACTG1_000003"	"g.79478552G>A"	""	"{PMID:Rivière 2012:22366783}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.81511526G>A"	""	"pathogenic (dominant)"	""
"0000642753"	"0"	"90"	"17"	"79478552"	"79478552"	"subst"	"0"	"00006"	"ACTG1_000003"	"g.79478552G>A"	""	"{PMID:Rivière 2012:22366783}"	""	""	"parents not available"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.81511526G>A"	""	"pathogenic (dominant)"	""
"0000642783"	"0"	"90"	"17"	"79478612"	"79478612"	"subst"	"0"	"00006"	"ACTG1_000002"	"g.79478612G>A"	""	"{PMID:Verloes 2015:25052316}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.81511586G>A"	"{CV-SCV:000148640}"	"pathogenic (dominant)"	""
"0000644182"	"0"	"99"	"17"	"79478256"	"79478256"	"subst"	"0"	"03590"	"ACTG1_000005"	"g.79478256G>A"	""	"{PMID:di Donato, 2016:27240540}"	""	""	""	"De novo"	"yes"	"rs151344528"	"0"	""	""	"g.81511230G>A"	"{CV:547802}"	"pathogenic"	"ACMG"
"0000644250"	"11"	"99"	"17"	"79479287"	"79479287"	"subst"	"0"	"03590"	"ACTG1_000136"	"g.79479287G>A"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.81512261G>A"	""	"pathogenic"	"ACMG"
"0000644445"	"11"	"99"	"17"	"79478939"	"79478939"	"subst"	"0"	"03590"	"ACTG1_000008"	"g.79478939T>A"	""	""	""	""	""	"Germline"	"yes"	"rs104894544"	"0"	""	""	"g.81511913T>A"	"{CV:18316}"	"likely pathogenic"	"ACMG"
"0000645397"	"11"	"99"	"17"	"79478938"	"79478938"	"subst"	"0"	"03590"	"ACTG1_000013"	"g.79478938C>G"	"0.000007986"	"{PMID:Morín, 2009:19477959}"	""	""	""	"Germline"	"yes"	"rs267606630"	"0"	""	""	"g.81511912C>G"	"{CV:18321}"	"pathogenic"	"ACMG"
"0000645398"	"10"	"99"	"17"	"79478295"	"79478295"	"subst"	"0"	"03590"	"ACTG1_000014"	"g.79478295C>T"	""	"{PMID:Morín 2009:19477959}"	""	""	""	"Germline"	"yes"	"rs267606631"	"0"	""	""	"g.81511269C>T"	"{CV:18322}"	"likely pathogenic"	"ACMG"
"0000647224"	"20"	"99"	"17"	"79478104"	"79478104"	"subst"	"0"	"03590"	"ACTG1_000011"	"g.79478104G>A"	"NA"	"{PMID:van Wijk 2003:14684684}{PMID:Kemperman 2004: 15023833}"	""	""	"{CVvar:18319}"	"Germline"	"yes"	"rs28999112"	"0"	""	""	"g.81511078G>A"	"{CV:18319}"	"pathogenic"	"ACMG"
"0000681073"	"0"	"30"	"17"	"79477992"	"79477992"	"subst"	"0"	"02327"	"ACTG1_000137"	"g.79477992C>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000681074"	"0"	"50"	"17"	"79478017"	"79478017"	"subst"	"4.06194E-6"	"02327"	"ACTG1_000034"	"g.79478017G>A"	""	""	""	"ACTG1(NM_001199954.2):c.920C>T (p.P307L), ACTG1(NM_001614.5):c.920C>T (p.(Pro307Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000692518"	"0"	"30"	"17"	"79477848"	"79477848"	"subst"	"0.0001178"	"01943"	"ACTG1_000116"	"g.79477848G>T"	""	""	""	"ACTG1(NM_001199954.2):c.996C>A (p.P332=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000692519"	"0"	"50"	"17"	"79478120"	"79478120"	"subst"	"4.06177E-6"	"01943"	"ACTG1_000138"	"g.79478120C>T"	""	""	""	"ACTG1(NM_001199954.2):c.817G>A (p.G273S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000711019"	"0"	"70"	"17"	"79478225"	"79478225"	"subst"	"0"	"03779"	"ACTG1_000009"	"g.79478225G>A"	""	""	""	""	""	"CLASSIFICATION record"	""	"rs104894546"	"0"	""	""	""	""	"likely pathogenic"	""
"0000712242"	"0"	"50"	"17"	"79477831"	"79477831"	"subst"	"0"	"03611"	"ACTG1_000139"	"g.79477831C>T"	""	"{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"VUS"	"ACMG"
"0000726766"	"0"	"50"	"17"	"79478469"	"79478469"	"subst"	"0"	"01943"	"ACTG1_000140"	"g.79478469G>A"	""	""	""	"ACTG1(NM_001199954.2):c.547C>T (p.R183W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000726767"	"0"	"50"	"17"	"79478531"	"79478531"	"subst"	"0"	"02327"	"ACTG1_000130"	"g.79478531G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000726768"	"0"	"70"	"17"	"79479298"	"79479298"	"subst"	"0"	"02327"	"ACTG1_000141"	"g.79479298C>A"	""	""	""	"ACTG1(NM_001199954.2):c.83G>T (p.R28L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000808334"	"0"	"50"	"17"	"79477831"	"79477831"	"subst"	"0"	"02327"	"ACTG1_000139"	"g.79477831G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000808335"	"0"	"50"	"17"	"79478315"	"79478315"	"subst"	"4.07654E-6"	"02327"	"ACTG1_000092"	"g.79478315G>A"	""	""	""	"ACTG1(NM_001199954.3):c.701C>T (p.S234F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000828480"	"0"	"70"	"17"	"79478243"	"79478243"	"subst"	"0"	"00000"	"ACTG1_000022"	"g.79478243G>A"	""	"{PMID:Perea-Romero 2021:34448047}"	""	"ACTG1,  c.773C>T,  p.Pro258Leu, heterozygous"	""	"De novo"	"yes"	""	"0"	""	""	"g.81511217G>A"	""	"likely pathogenic"	"ACMG"
"0000855161"	"0"	"70"	"17"	"79477813"	"79477813"	"subst"	"0"	"02327"	"ACTG1_000142"	"g.79477813G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000855162"	"0"	"30"	"17"	"79478626"	"79478626"	"subst"	"6.93832E-5"	"01943"	"ACTG1_000144"	"g.79478626C>T"	""	""	""	"ACTG1(NM_001199954.2):c.390G>A (p.P130=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000865559"	"0"	"30"	"17"	"79478362"	"79478362"	"subst"	"0.000207493"	"01943"	"ACTG1_000143"	"g.79478362G>A"	""	""	""	"ACTG1(NM_001199954.2):c.654C>T (p.Y218=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000865560"	"0"	"30"	"17"	"79479389"	"79479389"	"subst"	"0.00399301"	"02329"	"ACTG1_000065"	"g.79479389G>A"	""	""	""	"ACTG1(NM_001199954.1):c.-6-3C>T (p.(=)), ACTG1(NM_001199954.2):c.-6-3C>T, ACTG1(NM_001199954.3):c.-6-3C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000881405"	"0"	"70"	"17"	"79478243"	"79478243"	"subst"	"0"	"01164"	"ACTG1_000022"	"g.79478243G>A"	""	""	""	""	"ACMG: PS2_MOD, PS4_MOD, PM2_SUP, PP2, PP3"	"Germline"	"?"	""	""	""	""	"g.81511217G>A"	"VCV000639093.18"	"likely pathogenic (dominant)"	"ACMG"
"0000894351"	"0"	"70"	"17"	"79477824"	"79477824"	"subst"	"0"	"02327"	"ACTG1_000145"	"g.79477824C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000926677"	"0"	"30"	"17"	"79478295"	"79478295"	"subst"	"0"	"02327"	"ACTG1_000038"	"g.79478295C>G"	""	""	""	"ACTG1(NM_001199954.2):c.721G>C (p.E241Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000930907"	"0"	"50"	"17"	"79478586"	"79478593"	"del"	"0"	"02325"	"ACTG1_000146"	"g.79478586_79478593del"	""	""	""	"ACTG1(NM_001614.5):c.428_435delACGCCTCT (p.Y143Wfs*50)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000969279"	"0"	"50"	"17"	"79478107"	"79478107"	"subst"	"0"	"02327"	"ACTG1_000147"	"g.79478107G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000982897"	"0"	"30"	"17"	"79479336"	"79479336"	"subst"	"0.000199024"	"01804"	"ACTG1_000148"	"g.79479336G>A"	""	""	""	"ACTG1(NM_001614.5):c.45C>T (p.(Gly15=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000982898"	"0"	"30"	"17"	"79479384"	"79479384"	"subst"	"4.06194E-6"	"01804"	"ACTG1_000149"	"g.79479384G>A"	""	""	""	"ACTG1(NM_001614.5):c.-4C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000985229"	"0"	"70"	"17"	"79479313"	"79479313"	"subst"	"0"	"03544"	"ACTG1_000150"	"g.79479313C>G"	""	""	""	""	"identified in unaffected mother and brother (after segregation analysis using Sanger sequencing)"	"Germline"	"no"	"rs1598551390"	"0"	""	""	"g.81512287C>G"	""	"VUS"	"ACMG"
"0001007028"	"0"	"70"	"17"	"79478243"	"79478243"	"subst"	"0"	"03779"	"ACTG1_000022"	"g.79478243G>A"	""	""	""	""	""	"CLASSIFICATION record"	""	"rs11549191"	"0"	""	""	""	""	"likely pathogenic"	""
"0001017848"	"0"	"70"	"17"	"79478399"	"79478399"	"subst"	"4.06769E-6"	"04663"	"ACTG1_000151"	"g.79478399C>T"	""	"{PMID:Graziani 2022:36810952}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.81511373C>T"	""	"likely pathogenic (dominant)"	"ACMG"
"0001027077"	"0"	"50"	"17"	"79477849"	"79477849"	"subst"	"0"	"02327"	"ACTG1_000152"	"g.79477849G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001027078"	"0"	"90"	"17"	"79478243"	"79478243"	"subst"	"0"	"02329"	"ACTG1_000022"	"g.79478243G>A"	""	""	""	"ACTG1(NM_001199954.3):c.773C>T (p.P258L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001027079"	"0"	"50"	"17"	"79479298"	"79479298"	"subst"	"0"	"01943"	"ACTG1_000141"	"g.79479298C>A"	""	""	""	"ACTG1(NM_001199954.2):c.83G>T (p.R28L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001042274"	"0"	"30"	"17"	"79477868"	"79477868"	"subst"	"4.0623E-6"	"01804"	"ACTG1_000153"	"g.79477868A>C"	""	""	""	"ACTG1(NM_001614.5):c.985-9T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001042275"	"0"	"30"	"17"	"79479175"	"79479175"	"subst"	"2.03454E-5"	"01804"	"ACTG1_000154"	"g.79479175G>A"	""	""	""	"ACTG1(NM_001614.5):c.124-7C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001044617"	"0"	"30"	"17"	"79479389"	"79479389"	"subst"	"0.00399301"	"03779"	"ACTG1_000065"	"g.79479389G>A"	""	""	""	""	""	"Unknown"	""	"rs140724578"	"0"	""	""	""	""	"likely benign"	""
"0001056235"	"0"	"50"	"17"	"79478017"	"79478017"	"subst"	"4.06194E-6"	"01804"	"ACTG1_000034"	"g.79478017G>A"	""	""	""	"ACTG1(NM_001199954.2):c.920C>T (p.P307L), ACTG1(NM_001614.5):c.920C>T (p.(Pro307Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001056236"	"0"	"30"	"17"	"79479252"	"79479252"	"subst"	"4.06947E-6"	"01804"	"ACTG1_000155"	"g.79479252A>C"	""	""	""	"ACTG1(NM_001614.5):c.123+6T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001058372"	"0"	"90"	"17"	"79478442"	"79478442"	"subst"	"0"	"00006"	"ACTG1_000156"	"g.79478442T>A"	""	"{PMID:Retterer 2016:26633542}"	""	""	"variants reported seperately, unknown if mono-allelic or bi-allelic"	"Unknown"	""	""	"0"	""	""	"g.81511416T>A"	""	"pathogenic"	""


## 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 ACTG1
## Count = 219
"{{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}}"
"0000002673"	"00000706"	"30"	"985"	"-39"	"985"	"-39"	"c.985-39del"	"r.(?)"	"p.(=)"	"5i"
"0000005745"	"00000706"	"30"	"930"	"0"	"930"	"0"	"c.930C>T"	"r.(?)"	"p.(Ala310=)"	"5"
"0000005746"	"00000706"	"30"	"918"	"0"	"918"	"0"	"c.918C>T"	"r.(?)"	"p.(Tyr306=)"	"5"
"0000005747"	"00000706"	"30"	"363"	"59"	"363"	"59"	"c.363+59G>T"	"r.(?)"	"p.(=)"	"3i"
"0000005748"	"00000706"	"30"	"363"	"58"	"363"	"58"	"c.363+58G>A"	"r.(?)"	"p.(=)"	"3i"
"0000013707"	"00000706"	"30"	"930"	"0"	"930"	"0"	"c.930C>T"	"r.(?)"	"p.(Ala310=)"	"5"
"0000013708"	"00000706"	"30"	"918"	"0"	"918"	"0"	"c.918C>T"	"r.(?)"	"p.(Tyr306=)"	"5"
"0000089897"	"00000706"	"70"	"626"	"0"	"632"	"0"	"c.626_632del"	"r.(?)"	"p.(Val209Alafs*73)"	"4"
"0000129028"	"00000706"	"70"	"773"	"0"	"773"	"0"	"c.773C>T"	"r.(?)"	"p.(Pro258Leu)"	""
"0000188742"	"00000706"	"70"	"434"	"0"	"434"	"0"	"c.434C>T"	"r.(?)"	"p.(Ser145Phe)"	"4"
"0000254431"	"00000706"	"30"	"1026"	"0"	"1026"	"0"	"c.1026T>C"	"r.(?)"	"p.(Gly342=)"	""
"0000254942"	"00000706"	"30"	"531"	"0"	"531"	"0"	"c.531T>C"	"r.(?)"	"p.(Arg177=)"	""
"0000258916"	"00000706"	"10"	"363"	"13"	"363"	"13"	"c.363+13C>A"	"r.(=)"	"p.(=)"	""
"0000258917"	"00000706"	"10"	"918"	"0"	"918"	"0"	"c.918C>T"	"r.(?)"	"p.(Tyr306=)"	""
"0000259929"	"00000706"	"50"	"721"	"0"	"721"	"0"	"c.721G>C"	"r.(?)"	"p.(Glu241Gln)"	""
"0000261850"	"00000706"	"10"	"-6"	"-3"	"-6"	"-3"	"c.-6-3C>T"	"r.spl?"	"p.?"	""
"0000261851"	"00000706"	"30"	"1014"	"0"	"1014"	"0"	"c.1014G>A"	"r.(?)"	"p.(Ser338=)"	""
"0000261852"	"00000706"	"30"	"1029"	"0"	"1029"	"0"	"c.1029C>T"	"r.(?)"	"p.(Gly343=)"	""
"0000261853"	"00000706"	"30"	"1032"	"0"	"1032"	"0"	"c.1032C>T"	"r.(?)"	"p.(Ser344=)"	""
"0000261854"	"00000706"	"30"	"1035"	"0"	"1035"	"0"	"c.1035C>T"	"r.(?)"	"p.(Ile345=)"	""
"0000261855"	"00000706"	"30"	"1107"	"0"	"1107"	"0"	"c.1107C>A"	"r.(?)"	"p.(Ile369=)"	""
"0000261856"	"00000706"	"30"	"1107"	"0"	"1107"	"0"	"c.1107C>T"	"r.(?)"	"p.(Ile369=)"	""
"0000261857"	"00000706"	"30"	"1113"	"0"	"1113"	"0"	"c.1113C>T"	"r.(?)"	"p.(His371=)"	""
"0000261858"	"00000706"	"10"	"1128"	"0"	"1128"	"0"	"c.1128A>G"	"r.(?)"	"p.(Ter376=)"	""
"0000261859"	"00000706"	"30"	"124"	"-8"	"124"	"-8"	"c.124-8C>T"	"r.(=)"	"p.(=)"	""
"0000261860"	"00000706"	"30"	"126"	"0"	"126"	"0"	"c.126C>T"	"r.(?)"	"p.(Gly42=)"	""
"0000261861"	"00000706"	"10"	"15"	"0"	"15"	"0"	"c.15C>T"	"r.(?)"	"p.(Ile5=)"	""
"0000261862"	"00000706"	"30"	"177"	"0"	"177"	"0"	"c.177G>A"	"r.(?)"	"p.(Gln59=)"	""
"0000261863"	"00000706"	"50"	"180"	"0"	"180"	"0"	"c.180C>T"	"r.(?)"	"p.(Ser60=)"	""
"0000261864"	"00000706"	"30"	"18"	"0"	"18"	"0"	"c.18C>T"	"r.(?)"	"p.(Ala6=)"	""
"0000261865"	"00000706"	"30"	"228"	"0"	"228"	"0"	"c.228C>T"	"r.(?)"	"p.(Val76=)"	""
"0000261866"	"00000706"	"30"	"231"	"0"	"231"	"0"	"c.231C>T"	"r.(?)"	"p.(Thr77=)"	""
"0000261867"	"00000706"	"30"	"255"	"0"	"255"	"0"	"c.255C>T"	"r.(?)"	"p.(Ile85=)"	""
"0000261868"	"00000706"	"30"	"309"	"0"	"309"	"0"	"c.309G>A"	"r.(?)"	"p.(Val103=)"	""
"0000261869"	"00000706"	"10"	"363"	"13"	"363"	"13"	"c.363+13C>A"	"r.(=)"	"p.(=)"	""
"0000261870"	"00000706"	"30"	"363"	"14"	"363"	"14"	"c.363+14G>A"	"r.(=)"	"p.(=)"	""
"0000261871"	"00000706"	"30"	"399"	"0"	"399"	"0"	"c.399C>T"	"r.(?)"	"p.(Tyr133=)"	""
"0000261872"	"00000706"	"30"	"39"	"0"	"39"	"0"	"c.39C>T"	"r.(?)"	"p.(Gly13=)"	""
"0000261873"	"00000706"	"30"	"414"	"0"	"414"	"0"	"c.414C>T"	"r.(?)"	"p.(Ala138=)"	""
"0000261874"	"00000706"	"30"	"471"	"0"	"471"	"0"	"c.471C>T"	"r.(?)"	"p.(Asp157=)"	""
"0000261875"	"00000706"	"30"	"507"	"0"	"507"	"0"	"c.507C>T"	"r.(?)"	"p.(Tyr169=)"	""
"0000261876"	"00000706"	"30"	"546"	"0"	"546"	"0"	"c.546C>T"	"r.(?)"	"p.(Gly182=)"	""
"0000261877"	"00000706"	"30"	"564"	"0"	"564"	"0"	"c.564C>T"	"r.(?)"	"p.(Tyr188=)"	""
"0000261878"	"00000706"	"30"	"594"	"0"	"594"	"0"	"c.594C>T"	"r.(?)"	"p.(Tyr198=)"	""
"0000261880"	"00000706"	"30"	"684"	"0"	"684"	"0"	"c.684C>T"	"r.(?)"	"p.(Ala228=)"	""
"0000261881"	"00000706"	"10"	"693"	"0"	"693"	"0"	"c.693A>G"	"r.(?)"	"p.(Ala231=)"	""
"0000261882"	"00000706"	"50"	"699"	"0"	"701"	"0"	"c.699_701del"	"r.(?)"	"p.(Ser235del)"	""
"0000261883"	"00000706"	"30"	"729"	"0"	"729"	"0"	"c.729C>T"	"r.(?)"	"p.(Pro243=)"	""
"0000261884"	"00000706"	"30"	"802"	"15"	"802"	"15"	"c.802+15C>T"	"r.(=)"	"p.(=)"	""
"0000261885"	"00000706"	"50"	"867"	"0"	"867"	"0"	"c.867C>G"	"r.(?)"	"p.(Ile289Met)"	""
"0000261886"	"00000706"	"10"	"918"	"0"	"918"	"0"	"c.918C>T"	"r.(?)"	"p.(Tyr306=)"	""
"0000261887"	"00000706"	"50"	"920"	"0"	"920"	"0"	"c.920C>T"	"r.(?)"	"p.(Pro307Leu)"	""
"0000261888"	"00000706"	"10"	"930"	"0"	"930"	"0"	"c.930C>T"	"r.(?)"	"p.(Ala310=)"	""
"0000325765"	"00000706"	"50"	"237"	"0"	"237"	"0"	"c.237G>T"	"r.(?)"	"p.(Trp79Cys)"	""
"0000338774"	"00000706"	"10"	"363"	"13"	"363"	"13"	"c.363+13C>A"	"r.(=)"	"p.(=)"	""
"0000338775"	"00000706"	"30"	"-39"	"0"	"-39"	"0"	"c.-39C>T"	"r.(?)"	"p.(=)"	""
"0000338776"	"00000706"	"10"	"-55"	"0"	"-55"	"0"	"c.-55G>A"	"r.(?)"	"p.(=)"	""
"0000339149"	"00000706"	"50"	"98"	"0"	"98"	"0"	"c.98C>G"	"r.(?)"	"p.(Ser33Cys)"	""
"0000340468"	"00000706"	"10"	"1026"	"0"	"1026"	"0"	"c.1026T>C"	"r.(?)"	"p.(Gly342=)"	""
"0000340469"	"00000706"	"10"	"1014"	"0"	"1014"	"0"	"c.1014G>A"	"r.(?)"	"p.(Ser338=)"	""
"0000340470"	"00000706"	"10"	"930"	"0"	"930"	"0"	"c.930C>T"	"r.(?)"	"p.(Ala310=)"	""
"0000340471"	"00000706"	"10"	"918"	"0"	"918"	"0"	"c.918C>T"	"r.(?)"	"p.(Tyr306=)"	""
"0000340472"	"00000706"	"10"	"729"	"0"	"729"	"0"	"c.729C>T"	"r.(?)"	"p.(Pro243=)"	""
"0000340473"	"00000706"	"10"	"399"	"0"	"399"	"0"	"c.399C>T"	"r.(?)"	"p.(Tyr133=)"	""
"0000340474"	"00000706"	"10"	"177"	"0"	"177"	"0"	"c.177G>A"	"r.(?)"	"p.(Gln59=)"	""
"0000341173"	"00000706"	"70"	"430"	"0"	"430"	"0"	"c.430G>C"	"r.(?)"	"p.(Ala144Pro)"	""
"0000342760"	"00000706"	"50"	"1114"	"0"	"1114"	"0"	"c.1114C>T"	"r.(?)"	"p.(Arg372Cys)"	""
"0000344042"	"00000706"	"50"	"874"	"0"	"874"	"0"	"c.874G>A"	"r.(?)"	"p.(Asp292Asn)"	""
"0000344128"	"00000706"	"90"	"151"	"0"	"151"	"0"	"c.151G>A"	"r.(?)"	"p.(Asp51Asn)"	""
"0000344343"	"00000706"	"70"	"853"	"0"	"853"	"0"	"c.853T>C"	"r.(?)"	"p.(Cys285Arg)"	""
"0000346072"	"00000706"	"30"	"126"	"0"	"126"	"0"	"c.126C>T"	"r.(?)"	"p.(Gly42=)"	""
"0000346532"	"00000706"	"50"	"262"	"0"	"262"	"0"	"c.262C>T"	"r.(?)"	"p.(His88Tyr)"	""
"0000347379"	"00000706"	"90"	"353"	"0"	"353"	"0"	"c.353A>T"	"r.(?)"	"p.(Lys118Met)"	""
"0000348009"	"00000706"	"50"	"786"	"0"	"786"	"0"	"c.786C>G"	"r.(?)"	"p.(Phe262Leu)"	""
"0000348142"	"00000706"	"90"	"335"	"0"	"335"	"0"	"c.335C>T"	"r.(?)"	"p.(Pro112Leu)"	""
"0000348324"	"00000706"	"90"	"773"	"0"	"773"	"0"	"c.773C>T"	"r.(?)"	"p.(Pro258Leu)"	""
"0000349408"	"00000706"	"90"	"833"	"0"	"833"	"0"	"c.833C>T"	"r.(?)"	"p.(Thr278Ile)"	""
"0000349652"	"00000706"	"70"	"266"	"0"	"266"	"0"	"c.266C>T"	"r.(?)"	"p.(Thr89Ile)"	""
"0000434722"	"00000706"	"90"	"266"	"0"	"266"	"0"	"c.266C>T"	"r.(?)"	"p.(Thr89Ile)"	"3"
"0000434723"	"00000706"	"95"	"353"	"0"	"353"	"0"	"c.353A>T"	"r.(?)"	"p.(Lys118Met)"	"3"
"0000434724"	"00000706"	"95"	"354"	"0"	"354"	"0"	"c.354G>C"	"r.(?)"	"p.(Lys118Asn)"	"3"
"0000434725"	"00000706"	"90"	"359"	"0"	"359"	"0"	"c.359C>T"	"r.(?)"	"p.(Thr120Ile)"	"3"
"0000434726"	"00000706"	"95"	"364"	"0"	"364"	"0"	"c.364A>G"	"r.(?)"	"p.(Ile122Val)"	"4"
"0000434727"	"00000706"	"90"	"404"	"0"	"404"	"0"	"c.404C>T"	"r.(?)"	"p.(Ala135Val)"	"4"
"0000434728"	"00000706"	"90"	"464"	"0"	"464"	"0"	"c.464C>T"	"r.(?)"	"p.(Ser155Phe)"	"4"
"0000434729"	"00000706"	"90"	"608"	"0"	"608"	"0"	"c.608C>A"	"r.(?)"	"p.(Thr203Lys)"	"4"
"0000434730"	"00000706"	"95"	"721"	"0"	"721"	"0"	"c.721G>A"	"r.(?)"	"p.(Glu241Lys)"	"4"
"0000434731"	"00000706"	"90"	"760"	"0"	"760"	"0"	"c.760C>T"	"r.(?)"	"p.(Arg254Trp)"	"4"
"0000434732"	"00000706"	"90"	"766"	"0"	"766"	"0"	"c.766C>T"	"r.(?)"	"p.(Arg256Trp)"	"4"
"0000434733"	"00000706"	"95"	"791"	"0"	"791"	"0"	"c.791C>T"	"r.(?)"	"p.(Pro264Leu)"	"4"
"0000434734"	"00000706"	"95"	"833"	"0"	"833"	"0"	"c.833C>T"	"r.(?)"	"p.(Thr278Ile)"	"5"
"0000434735"	"00000706"	"95"	"994"	"0"	"994"	"0"	"c.994C>G"	"r.(?)"	"p.(Pro332Ala)"	"6"
"0000434736"	"00000706"	"95"	"1109"	"0"	"1109"	"0"	"c.1109T>C"	"r.(?)"	"p.(Val370Ala)"	"6"
"0000563661"	"00000706"	"30"	"1017"	"0"	"1017"	"0"	"c.1017G>C"	"r.(?)"	"p.(Val339=)"	""
"0000563662"	"00000706"	"70"	"1003"	"0"	"1003"	"0"	"c.1003C>T"	"r.(?)"	"p.(Arg335Cys)"	""
"0000563663"	"00000706"	"90"	"1003"	"0"	"1003"	"0"	"c.1003C>T"	"r.(?)"	"p.(Arg335Cys)"	""
"0000563664"	"00000706"	"30"	"985"	"-5"	"985"	"-5"	"c.985-5dup"	"r.spl?"	"p.?"	""
"0000563665"	"00000706"	"30"	"984"	"7"	"984"	"7"	"c.984+7C>T"	"r.(=)"	"p.(=)"	""
"0000563666"	"00000706"	"30"	"980"	"0"	"980"	"0"	"c.980T>C"	"r.(?)"	"p.(Ile327Thr)"	""
"0000563667"	"00000706"	"30"	"877"	"0"	"877"	"0"	"c.877C>T"	"r.(?)"	"p.(Leu293=)"	""
"0000563668"	"00000706"	"50"	"859"	"0"	"859"	"0"	"c.859G>A"	"r.(?)"	"p.(Val287Met)"	""
"0000563669"	"00000706"	"90"	"842"	"0"	"842"	"0"	"c.842C>G"	"r.(?)"	"p.(Ser281Cys)"	""
"0000563670"	"00000706"	"30"	"803"	"-7"	"803"	"-7"	"c.803-7C>T"	"r.(=)"	"p.(=)"	""
"0000563671"	"00000706"	"10"	"780"	"0"	"780"	"0"	"c.780G>A"	"r.(?)"	"p.(Ala260=)"	""
"0000563672"	"00000706"	"90"	"766"	"0"	"766"	"0"	"c.766C>T"	"r.(?)"	"p.(Arg256Trp)"	""
"0000563673"	"00000706"	"90"	"707"	"0"	"707"	"0"	"c.707T>C"	"r.(?)"	"p.(Leu236Pro)"	""
"0000563674"	"00000706"	"50"	"701"	"0"	"701"	"0"	"c.701C>T"	"r.(?)"	"p.(Ser234Phe)"	""
"0000563675"	"00000706"	"70"	"658"	"0"	"658"	"0"	"c.658dup"	"r.(?)"	"p.(Ala220GlyfsTer34)"	""
"0000563676"	"00000706"	"30"	"612"	"0"	"612"	"0"	"c.612C>T"	"r.(?)"	"p.(Ala204=)"	""
"0000563677"	"00000706"	"70"	"548"	"0"	"548"	"0"	"c.548G>A"	"r.(?)"	"p.(Arg183Gln)"	""
"0000563678"	"00000706"	"50"	"515"	"0"	"515"	"0"	"c.515C>G"	"r.(?)"	"p.(Pro172Arg)"	""
"0000563679"	"00000706"	"50"	"511"	"0"	"511"	"0"	"c.511C>T"	"r.(?)"	"p.(Leu171Phe)"	""
"0000563680"	"00000706"	"50"	"476"	"0"	"476"	"0"	"c.476T>C"	"r.(?)"	"p.(Val159Ala)"	""
"0000563681"	"00000706"	"50"	"399"	"0"	"399"	"0"	"c.399C>A"	"r.(?)"	"p.(Tyr133Ter)"	""
"0000563682"	"00000706"	"30"	"225"	"0"	"225"	"0"	"c.225C>T"	"r.(?)"	"p.(Ile75=)"	""
"0000563683"	"00000706"	"70"	"212"	"0"	"212"	"0"	"c.212T>C"	"r.(?)"	"p.(Ile71Thr)"	""
"0000563684"	"00000706"	"70"	"197"	"0"	"197"	"0"	"c.197C>T"	"r.(?)"	"p.(Thr66Ile)"	""
"0000563685"	"00000706"	"30"	"22"	"0"	"22"	"0"	"c.22C>T"	"r.(?)"	"p.(Leu8=)"	""
"0000563686"	"00000706"	"30"	"-6"	"-3"	"-6"	"-3"	"c.-6-3C>T"	"r.spl?"	"p.?"	""
"0000563687"	"00000706"	"30"	"-7"	"126"	"-7"	"126"	"c.-7+126C>T"	"r.(=)"	"p.(=)"	""
"0000601054"	"00000706"	"70"	"176"	"0"	"176"	"0"	"c.176A>G"	"r.(176a>g)"	"p.(Gln59Arg)"	"3"
"0000601055"	"00000706"	"70"	"608"	"0"	"608"	"0"	"c.608C>T"	"r.(608c>u)"	"p.(Thr203Met)"	"4"
"0000616913"	"00000706"	"30"	"996"	"0"	"996"	"0"	"c.996C>G"	"r.(?)"	"p.(Pro332=)"	""
"0000616914"	"00000706"	"30"	"636"	"0"	"636"	"0"	"c.636C>A"	"r.(?)"	"p.(Ile212=)"	""
"0000616915"	"00000706"	"70"	"598"	"0"	"598"	"0"	"c.598T>C"	"r.(?)"	"p.(Phe200Leu)"	""
"0000616916"	"00000706"	"30"	"591"	"0"	"591"	"0"	"c.591C>G"	"r.(?)"	"p.(Gly197=)"	""
"0000616917"	"00000706"	"50"	"328"	"0"	"328"	"0"	"c.328dup"	"r.(?)"	"p.(Leu110ProfsTer16)"	""
"0000616918"	"00000706"	"30"	"153"	"0"	"153"	"0"	"c.153C>T"	"r.(?)"	"p.(Asp51=)"	""
"0000616919"	"00000706"	"30"	"82"	"0"	"82"	"0"	"c.82C>G"	"r.(?)"	"p.(Arg28Gly)"	""
"0000616920"	"00000706"	"30"	"39"	"0"	"39"	"0"	"c.39C>T"	"r.(?)"	"p.(Gly13=)"	""
"0000616921"	"00000706"	"30"	"-6"	"-7"	"-6"	"-7"	"c.-6-7C>T"	"r.(=)"	"p.(=)"	""
"0000642042"	"00000706"	"33"	"1110"	"0"	"1110"	"0"	"c.1110C>A"	"r.(=)"	"p.(=)"	"6"
"0000642043"	"00000706"	"99"	"1109"	"0"	"1109"	"0"	"c.1109T>C"	"r.(?)"	"p.(Val370Ala)"	"6"
"0000642044"	"00000706"	"33"	"996"	"0"	"996"	"0"	"c.996C>A"	"r.(=)"	"p.(=)"	"6"
"0000642045"	"00000706"	"99"	"994"	"0"	"994"	"0"	"c.994C>G"	"r.(?)"	"p.(Pro332Ala)"	"6"
"0000642046"	"00000706"	"33"	"945"	"0"	"945"	"0"	"c.945G>A"	"r.(=)"	"p.(=)"	"5"
"0000642047"	"00000706"	"99"	"914"	"0"	"914"	"0"	"c.914T>C"	"r.(?)"	"p.(Met305Thr)"	"5"
"0000642048"	"00000706"	"33"	"909"	"0"	"909"	"0"	"c.909C>T"	"r.(=)"	"p.(=)"	"5"
"0000642049"	"00000706"	"99"	"895"	"0"	"895"	"0"	"c.895C>G"	"r.(?)"	"p.(Leu299Val)"	"5"
"0000642050"	"00000706"	"55"	"853"	"0"	"853"	"0"	"c.853T>C"	"r.(?)"	"p.(Cys285Arg)"	"5"
"0000642051"	"00000706"	"99"	"833"	"0"	"833"	"0"	"c.833C>T"	"r.(?)"	"p.(Thr278Ile)"	"5"
"0000642052"	"00000706"	"33"	"828"	"0"	"828"	"0"	"c.828G>A"	"r.(=)"	"p.(=)"	"5"
"0000642053"	"00000706"	"77"	"802"	"0"	"802"	"0"	"c.802G>A"	"r.(?)"	"p.(Gly268Ser)"	"4"
"0000642054"	"00000706"	"99"	"791"	"0"	"791"	"0"	"c.791C>T"	"r.(?)"	"p.(Pro264Leu)"	"4"
"0000642055"	"00000706"	"99"	"766"	"0"	"766"	"0"	"c.766C>T"	"r.(?)"	"p.(Arg256Trp)"	"4"
"0000642056"	"00000706"	"99"	"760"	"0"	"760"	"0"	"c.760C>T"	"r.(?)"	"p.(Arg254Trp)"	"4"
"0000642057"	"00000706"	"99"	"721"	"0"	"721"	"0"	"c.721G>A"	"r.(?)"	"p.(Glu241Lys)"	"4"
"0000642058"	"00000706"	"33"	"636"	"0"	"636"	"0"	"c.636C>A"	"r.(=)"	"p.(=)"	"4"
"0000642059"	"00000706"	"99"	"608"	"0"	"608"	"0"	"c.608C>A"	"r.(?)"	"p.(Thr203Lys)"	"4"
"0000642060"	"00000706"	"77"	"598"	"0"	"598"	"0"	"c.598T>A"	"r.(?)"	"p.(Phe200Ile)"	"4"
"0000642061"	"00000706"	"33"	"576"	"0"	"576"	"0"	"c.576C>T"	"r.(=)"	"p.(=)"	"4"
"0000642062"	"00000706"	"99"	"559"	"0"	"559"	"0"	"c.559G>C"	"r.(?)"	"p.(Asp187His)"	"4"
"0000642063"	"00000706"	"33"	"531"	"0"	"531"	"0"	"c.531T>C"	"r.(=)"	"p.(=)"	"4"
"0000642064"	"00000706"	"55"	"521"	"0"	"521"	"0"	"c.521C>G"	"r.(?)"	"p.(Ala174Gly)"	"4"
"0000642065"	"00000706"	"55"	"520"	"0"	"520"	"0"	"c.520G>T"	"r.(?)"	"p.(Ala174Ser)"	"4"
"0000642066"	"00000706"	"55"	"519"	"0"	"519"	"0"	"c.519C>T"	"r.(=)"	"p.(=)"	"4"
"0000642067"	"00000706"	"33"	"498"	"0"	"498"	"0"	"c.498C>T"	"r.(=)"	"p.(=)"	"4"
"0000642068"	"00000706"	"99"	"485"	"0"	"485"	"0"	"c.485C>T"	"r.(?)"	"p.(Thr162Met)"	"4"
"0000642069"	"00000706"	"99"	"464"	"0"	"464"	"0"	"c.464C>T"	"r.(?)"	"p.(Ser155Phe)"	"4"
"0000642070"	"00000706"	"33"	"432"	"0"	"432"	"0"	"c.432C>T"	"r.(=)"	"p.(=)"	"4"
"0000642071"	"00000706"	"33"	"414"	"0"	"414"	"0"	"c.414C>T"	"r.(=)"	"p.(=)"	"4"
"0000642072"	"00000706"	"99"	"404"	"0"	"404"	"0"	"c.404C>T"	"r.(?)"	"p.(Ala135Val)"	"4"
"0000642073"	"00000706"	"99"	"364"	"0"	"364"	"0"	"c.364A>G"	"r.(?)"	"p.(Ile122Val)"	"4"
"0000642074"	"00000706"	"33"	"364"	"-8"	"364"	"-8"	"c.364-8C>T"	"r.(=)"	"p.(=)"	"3i"
"0000642075"	"00000706"	"99"	"359"	"0"	"359"	"0"	"c.359C>T"	"r.(?)"	"p.(Thr120Ile)"	"3"
"0000642076"	"00000706"	"99"	"354"	"0"	"354"	"0"	"c.354G>C"	"r.(?)"	"p.(Lys118Asn)"	"3"
"0000642077"	"00000706"	"99"	"353"	"0"	"353"	"0"	"c.353A>T"	"r.(?)"	"p.(Lys118Met)"	"3"
"0000642078"	"00000706"	"33"	"333"	"0"	"333"	"0"	"c.333C>T"	"r.(=)"	"p.(=)"	"3"
"0000642079"	"00000706"	"99"	"266"	"0"	"266"	"0"	"c.266C>T"	"r.(?)"	"p.(Thr89Ile)"	"3"
"0000642080"	"00000706"	"33"	"255"	"0"	"255"	"0"	"c.255C>T"	"r.(=)"	"p.(=)"	"3"
"0000642081"	"00000706"	"77"	"197"	"0"	"197"	"0"	"c.197C>T"	"r.(?)"	"p.(Thr66Ile)"	"3"
"0000642082"	"00000706"	"33"	"159"	"0"	"159"	"0"	"c.159C>T"	"r.(=)"	"p.(=)"	"3"
"0000642083"	"00000706"	"99"	"151"	"0"	"151"	"0"	"c.151G>A"	"r.(?)"	"p.(Asp51Asn)"	"3"
"0000642084"	"00000706"	"55"	"81"	"0"	"81"	"0"	"c.81C>T"	"r.(=)"	"p.(=)"	"2"
"0000642749"	"00000706"	"90"	"658"	"0"	"658"	"0"	"c.658dup"	"r.0"	"p.0"	""
"0000642752"	"00000706"	"90"	"464"	"0"	"464"	"0"	"c.464C>T"	"r.(?)"	"p.(Ser155Phe)"	"4"
"0000642753"	"00000706"	"90"	"464"	"0"	"464"	"0"	"c.464C>T"	"r.(?)"	"p.(Ser155Phe)"	"4"
"0000642783"	"00000706"	"90"	"404"	"0"	"404"	"0"	"c.404C>T"	"r.(?)"	"p.(Ala135Val)"	""
"0000644182"	"00000706"	"99"	"760"	"0"	"760"	"0"	"c.760C>T"	"r.(?)"	"p.(Arg254Trp)"	"04"
"0000644250"	"00000706"	"99"	"94"	"0"	"94"	"0"	"c.94C>T"	"r.(?)"	"p.(Pro32Ser)"	"02"
"0000644445"	"00000706"	"99"	"353"	"0"	"353"	"0"	"c.353A>T"	"r.(?)"	"p.(Lys118Met)"	"03"
"0000645397"	"00000706"	"99"	"354"	"0"	"354"	"0"	"c.354G>C"	"r.(?)"	"p.(Lys118Asn)"	"03"
"0000645398"	"00000706"	"99"	"721"	"0"	"721"	"0"	"c.721G>A"	"r.(?)"	"p.(Glu241Lys)"	"4"
"0000647224"	"00000706"	"99"	"833"	"0"	"833"	"0"	"c.833C>T"	"r.(?)"	"p.(Thr278Ile)"	"05"
"0000681073"	"00000706"	"30"	"945"	"0"	"945"	"0"	"c.945G>C"	"r.(?)"	"p.(Lys315Asn)"	""
"0000681074"	"00000706"	"50"	"920"	"0"	"920"	"0"	"c.920C>T"	"r.(?)"	"p.(Pro307Leu)"	""
"0000692518"	"00000706"	"30"	"996"	"0"	"996"	"0"	"c.996C>A"	"r.(?)"	"p.(Pro332=)"	""
"0000692519"	"00000706"	"50"	"817"	"0"	"817"	"0"	"c.817G>A"	"r.(?)"	"p.(Gly273Ser)"	""
"0000711019"	"00000706"	"70"	"791"	"0"	"791"	"0"	"c.791C>T"	"r.(?)"	"p.(Pro264Leu)"	""
"0000712242"	"00000706"	"50"	"1013"	"0"	"1013"	"0"	"c.1013C>T"	"r.(?)"	"p.(Ser338Leu)"	""
"0000726766"	"00000706"	"50"	"547"	"0"	"547"	"0"	"c.547C>T"	"r.(?)"	"p.(Arg183Trp)"	""
"0000726767"	"00000706"	"50"	"485"	"0"	"485"	"0"	"c.485C>T"	"r.(?)"	"p.(Thr162Met)"	""
"0000726768"	"00000706"	"70"	"83"	"0"	"83"	"0"	"c.83G>T"	"r.(?)"	"p.(Arg28Leu)"	""
"0000808334"	"00000706"	"50"	"1013"	"0"	"1013"	"0"	"c.1013C>T"	"r.(?)"	"p.(Ser338Leu)"	""
"0000808335"	"00000706"	"50"	"701"	"0"	"701"	"0"	"c.701C>T"	"r.(?)"	"p.(Ser234Phe)"	""
"0000828480"	"00000706"	"70"	"773"	"0"	"773"	"0"	"c.773C>T"	"r.(?)"	"p.(Pro258Leu)"	""
"0000855161"	"00000706"	"70"	"1031"	"0"	"1031"	"0"	"c.1031C>G"	"r.(?)"	"p.(Ser344Cys)"	""
"0000855162"	"00000706"	"30"	"390"	"0"	"390"	"0"	"c.390G>A"	"r.(?)"	"p.(Pro130=)"	""
"0000865559"	"00000706"	"30"	"654"	"0"	"654"	"0"	"c.654C>T"	"r.(?)"	"p.(Tyr218=)"	""
"0000865560"	"00000706"	"30"	"-6"	"-3"	"-6"	"-3"	"c.-6-3C>T"	"r.spl?"	"p.?"	""
"0000881405"	"00000706"	"70"	"773"	"0"	"773"	"0"	"c.773C>T"	"r.(?)"	"p.(Pro258Leu)"	""
"0000894351"	"00000706"	"70"	"1020"	"0"	"1020"	"0"	"c.1020G>T"	"r.(?)"	"p.(Trp340Cys)"	""
"0000926677"	"00000706"	"30"	"721"	"0"	"721"	"0"	"c.721G>C"	"r.(?)"	"p.(Glu241Gln)"	""
"0000930907"	"00000706"	"50"	"428"	"0"	"435"	"0"	"c.428_435del"	"r.(?)"	"p.(Tyr143Trpfs*50)"	""
"0000969279"	"00000706"	"50"	"830"	"0"	"830"	"0"	"c.830C>T"	"r.(?)"	"p.(Thr277Ile)"	""
"0000982897"	"00000706"	"30"	"45"	"0"	"45"	"0"	"c.45C>T"	"r.(?)"	"p.(=)"	""
"0000982898"	"00000706"	"30"	"-4"	"0"	"-4"	"0"	"c.-4C>T"	"r.(?)"	"p.(=)"	""
"0000985229"	"00000706"	"70"	"68"	"0"	"68"	"0"	"c.68G>C"	"r.(?)"	"p.(Gly23Ala)"	"2"
"0001007028"	"00000706"	"70"	"773"	"0"	"773"	"0"	"c.773C>T"	"r.(?)"	"p.(Pro258Leu)"	""
"0001017848"	"00000706"	"70"	"617"	"0"	"617"	"0"	"c.617G>A"	"r.(?)"	"p.(Arg206Gln)"	""
"0001027077"	"00000706"	"50"	"995"	"0"	"995"	"0"	"c.995C>G"	"r.(?)"	"p.(Pro332Arg)"	""
"0001027078"	"00000706"	"90"	"773"	"0"	"773"	"0"	"c.773C>T"	"r.(?)"	"p.(Pro258Leu)"	""
"0001027079"	"00000706"	"50"	"83"	"0"	"83"	"0"	"c.83G>T"	"r.(?)"	"p.(Arg28Leu)"	""
"0001042274"	"00000706"	"30"	"985"	"-9"	"985"	"-9"	"c.985-9T>G"	"r.(=)"	"p.(=)"	""
"0001042275"	"00000706"	"30"	"124"	"-7"	"124"	"-7"	"c.124-7C>T"	"r.(=)"	"p.(=)"	""
"0001044617"	"00000706"	"30"	"-6"	"-3"	"-6"	"-3"	"c.-6-3C>T"	"r.(?)"	"p.(?)"	""
"0001056235"	"00000706"	"50"	"920"	"0"	"920"	"0"	"c.920C>T"	"r.(?)"	"p.(Pro307Leu)"	""
"0001056236"	"00000706"	"30"	"123"	"6"	"123"	"6"	"c.123+6T>G"	"r.(=)"	"p.(=)"	""
"0001058372"	"00000706"	"90"	"574"	"0"	"574"	"0"	"c.574A>T"	"r.(?)"	"p.(Ile192Phe)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 72
"{{screeningid}}"	"{{variantid}}"
"0000000209"	"0000002673"
"0000000209"	"0000005745"
"0000000209"	"0000005746"
"0000000209"	"0000005747"
"0000000209"	"0000005748"
"0000000210"	"0000013707"
"0000000210"	"0000013708"
"0000059099"	"0000089897"
"0000080129"	"0000129028"
"0000117743"	"0000188742"
"0000205355"	"0000434722"
"0000205356"	"0000434723"
"0000205357"	"0000434724"
"0000205358"	"0000434725"
"0000205359"	"0000434726"
"0000205360"	"0000434727"
"0000205361"	"0000434728"
"0000205362"	"0000434729"
"0000205363"	"0000434730"
"0000205364"	"0000434731"
"0000205365"	"0000434732"
"0000205366"	"0000434733"
"0000205367"	"0000434734"
"0000205368"	"0000434735"
"0000205369"	"0000434736"
"0000268364"	"0000601054"
"0000268365"	"0000601055"
"0000286300"	"0000642042"
"0000286302"	"0000642044"
"0000286304"	"0000642046"
"0000286305"	"0000642047"
"0000286306"	"0000642048"
"0000286307"	"0000642049"
"0000286308"	"0000642050"
"0000286310"	"0000642052"
"0000286311"	"0000642053"
"0000286316"	"0000642058"
"0000286318"	"0000642060"
"0000286319"	"0000642061"
"0000286320"	"0000642062"
"0000286321"	"0000642063"
"0000286322"	"0000642064"
"0000286323"	"0000642065"
"0000286324"	"0000642066"
"0000286325"	"0000642067"
"0000286326"	"0000642068"
"0000286328"	"0000642070"
"0000286329"	"0000642071"
"0000286331"	"0000642073"
"0000286332"	"0000642074"
"0000286336"	"0000642078"
"0000286338"	"0000642080"
"0000286339"	"0000642081"
"0000286340"	"0000642082"
"0000286341"	"0000642083"
"0000286342"	"0000642084"
"0000287012"	"0000642749"
"0000287014"	"0000642752"
"0000287015"	"0000642753"
"0000287044"	"0000642783"
"0000288269"	"0000644182"
"0000288337"	"0000644250"
"0000288529"	"0000644445"
"0000289428"	"0000645397"
"0000289429"	"0000645398"
"0000290541"	"0000647224"
"0000328296"	"0000712242"
"0000396802"	"0000828480"
"0000420988"	"0000881405"
"0000451366"	"0000985229"
"0000459734"	"0001017848"
"0000470250"	"0001058372"