### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = EVC)
# 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}}"
"EVC"	"Ellis van Creveld syndrome"	"4"	"p16"	"unknown"	"NG_008843.1"	"UD_132084457680"	""	"https://www.LOVD.nl/EVC"	""	"1"	"3497"	"2121"	"604831"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland."	""	"g"	"https://databases.lovd.nl/shared/refseq/EVC_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2020-07-31 09:58:17"	"00000"	"2025-07-08 13:22:38"


## 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}}"
"00007280"	"EVC"	"Ellis van Creveld syndrome"	"001"	"NM_153717.2"	""	"NP_714928.1"	""	""	""	"-184"	"6246"	"2979"	"5712924"	"5816031"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 7
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00000"	"Healthy/Control"	"Healthy individual / control"	""	""	""	""	""	"00000"	"2012-07-26 17:29:43"	""	""
"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"
"00201"	"INFM"	"infertility, male (INFM)"	""	""	""	""	""	"00006"	"2013-09-14 21:03:39"	"00006"	"2015-12-07 07:11:25"
"00603"	"EVC"	"Ellis-van Creveld syndrome (EVC)"	"AR"	"225500"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"00604"	"WAD"	"dysostosis, acrodental, Weyers (WAD)"	"AD"	"193530"	""	"autosomal dominant"	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"05517"	"skeletal dysplasia"	"dysplasia, skeletal"	""	""	""	""	""	"00006"	"2018-11-16 16:43:21"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{geneid}}"	"{{diseaseid}}"
"EVC"	"00139"
"EVC"	"00603"
"EVC"	"00604"


## Individuals ## Do not remove or alter this header ##
## Count = 96
"{{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}}"
"00058525"	""	""	""	"1"	""	"01396"	"{PMID:Silveira 2021:34529350}, {DOI:Silveira 2021:10.1002/ajmg.c.31937}"	""	""	"?"	"Brazil"	""	"0"	""	""	""	"Pat28"
"00293637"	""	""	""	"126"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00299448"	""	""	""	"3"	""	"00006"	"{PMID:Ayhan 2014:24431330}"	"4-generation family, 3 affected brothers"	"M"	"yes"	"Turkey"	""	"0"	""	""	""	"Fam1"
"00304999"	""	""	""	"4"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00307008"	""	""	""	"1"	""	"03745"	""	""	"M"	"no"	"Italy"	""	"0"	""	""	""	""
"00307010"	""	""	""	"1"	""	"03745"	""	""	"F"	"no"	"Italy"	""	""	""	""	""	""
"00307090"	""	""	""	"1"	""	"00006"	"{PMID:Ruiz-Perez 2000:10700184}, {DOI:Ruiz-Perez 2000:10.1038/73508}"	"parents not available"	""	""	""	""	"0"	""	""	""	"Pat16086"
"00307091"	""	""	""	"1"	""	"00006"	"{PMID:Ruiz-Perez 2000:10700184}, {DOI:Ruiz-Perez 2000:10.1038/73508}"	"2-generation family, 1 affected, unaffected heterozygous parents (father Weyers acrodental dysostosis)"	""	""	""	""	"0"	""	""	""	"Pat15219"
"00307092"	""	""	""	"1"	""	"00006"	"{PMID:Ruiz-Perez 2000:10700184}, {DOI:Ruiz-Perez 2000:10.1038/73508}"	"large multigeneration family"	"F;M"	""	"United States"	""	"0"	""	""	"Amish"	"FamAmish"
"00307093"	""	""	""	"1"	""	"00006"	"{PMID:Ruiz-Perez 2000:10700184}, {DOI:Ruiz-Perez 2000:10.1038/73508}"	""	""	""	""	""	"0"	""	""	""	"PatNCL16"
"00307094"	""	""	""	"1"	""	"00006"	"{PMID:Ruiz-Perez 2000:10700184}, {DOI:Ruiz-Perez 2000:10.1038/73508}"	""	""	""	""	""	"0"	""	""	""	"PatNCL14"
"00307095"	""	""	""	"1"	""	"00006"	"{PMID:Ruiz-Perez 2000:10700184}, {DOI:Ruiz-Perez 2000:10.1038/73508}"	""	""	""	""	""	"0"	""	""	""	"PatNCL12"
"00307096"	""	""	""	"1"	""	"00006"	"{PMID:Ruiz-Perez 2000:10700184}, {DOI:Ruiz-Perez 2000:10.1038/73508}"	"2-generation family, 1 affected, unaffected heterozygous parents/sister"	"F"	""	""	""	"0"	""	""	""	"FanEVC015Pat16218"
"00307097"	""	""	""	"2"	""	"00006"	"affected father and daughter"	""	"F;M"	""	""	""	"0"	""	""	""	"PatI1"
"00307098"	""	""	""	"1"	""	"00006"	"{PMID:Ruiz-Perez 2000:10700184}, {DOI:Ruiz-Perez 2000:10.1038/73508}"	""	""	""	""	""	"0"	""	""	""	""
"00307099"	""	""	""	"1"	""	"00006"	"{PMID:Ruiz-Perez 2000:10700184}, {DOI:Ruiz-Perez 2000:10.1038/73508}"	""	""	""	""	""	"0"	""	""	""	""
"00307100"	""	""	""	"1"	""	"00006"	"{PMID:Ruiz-Perez 2000:10700184}, {DOI:Ruiz-Perez 2000:10.1038/73508}"	""	""	""	""	""	"0"	""	""	""	""
"00307101"	""	""	""	"1"	""	"00006"	"{PMID:Ruiz-Perez 2000:10700184}, {DOI:Ruiz-Perez 2000:10.1038/73508}"	""	""	""	""	""	"0"	""	""	""	""
"00307102"	""	""	""	"1"	""	"00006"	"{PMID:Ruiz-Perez 2000:10700184}, {DOI:Ruiz-Perez 2000:10.1038/73508}"	""	""	""	""	""	"0"	""	""	""	""
"00307103"	""	""	""	"1"	""	"00006"	"{PMID:Ruiz-Perez 2000:10700184}, {DOI:Ruiz-Perez 2000:10.1038/73508}"	""	""	""	""	""	"0"	""	""	""	""
"00307104"	""	""	""	"1"	""	"00006"	"{PMID:Ruiz-Perez 2000:10700184}, {DOI:Ruiz-Perez 2000:10.1038/73508}"	""	""	""	""	""	"0"	""	""	""	""
"00307127"	""	""	""	"1"	""	"00006"	"{PMID:Rudnik-Schöneborn 2011:22190900}, {DOI:Rudnik-Schöneborn 2011:10.1159/000331338}"	"2-generation family, 1 affected, unaffacted parents"	"M"	""	"Sri Lanka"	""	"0"	""	""	""	"Pat2"
"00325881"	""	""	""	"1"	""	"00006"	"{PMID:Sund 2009:19251731}"	""	"M"	""	"United States"	""	"0"	""	""	"white, Hispanic"	"Pat10-3"
"00325882"	""	""	""	"1"	""	"00006"	"{PMID:Sund 2009:19251731}"	""	"F"	""	"United States"	""	"0"	""	""	"African American"	"Pat4-12"
"00325886"	""	""	""	"3"	""	"00006"	"{PMID:Temtamy 2008:18454448}"	"4-generation family, 3 affected sibs (F, 2M)"	"F;M"	"yes"	"Egypt"	""	"0"	""	""	""	"Fam1"
"00325887"	""	""	""	"1"	""	"00006"	"{PMID:Temtamy 2008:18454448}"	""	""	"no"	"Italy"	""	"0"	""	""	""	""
"00325888"	""	""	""	"1"	""	"00006"	"{PMID:Tompson 2007:17024374}"	""	""	""	""	""	"0"	""	""	""	"52453"
"00325889"	""	""	""	"1"	""	"00006"	"{PMID:Tompson 2007:17024374}"	""	""	""	""	""	"0"	""	""	""	"44736"
"00325890"	""	""	""	"1"	""	"00006"	"{PMID:Tompson 2007:17024374}"	""	""	""	""	""	"0"	""	""	""	"39596"
"00325891"	""	""	""	"1"	""	"00006"	"{PMID:Tompson 2007:17024374}"	""	""	""	""	""	"0"	""	""	""	"33411"
"00325892"	""	""	""	"1"	""	"00006"	"{PMID:Tompson 2007:17024374}"	""	""	""	""	""	"0"	""	""	""	"31682"
"00325893"	""	""	""	"1"	""	"00006"	"{PMID:Tompson 2007:17024374}"	""	""	""	""	""	"0"	""	""	""	"GC24941"
"00325894"	""	""	""	"1"	""	"00006"	"{PMID:Tompson 2007:17024374}"	""	""	""	""	""	"0"	""	""	""	"19242"
"00325895"	""	""	""	"1"	""	"00006"	"{PMID:Tompson 2007:17024374}"	""	""	""	""	""	"0"	""	""	""	"51185"
"00325896"	""	""	""	"1"	""	"00006"	"{PMID:Tompson 2007:17024374}"	""	""	""	""	""	"0"	""	""	""	"GC30714"
"00325897"	""	""	""	"1"	""	"00006"	"{PMID:Tompson 2007:17024374}"	""	""	""	""	""	"0"	""	""	""	"36148"
"00325898"	""	""	""	"1"	""	"00006"	"{PMID:Tompson 2007:17024374}"	""	""	""	""	""	"0"	""	""	""	"34829"
"00325899"	""	""	""	"1"	""	"00006"	"{PMID:Tompson 2007:17024374}"	""	""	""	""	""	"0"	""	""	""	"42597"
"00325900"	""	""	""	"1"	""	"00006"	"{PMID:Tompson 2007:17024374}"	""	""	""	"Portugal"	""	"0"	""	""	""	"31765"
"00325901"	""	""	""	"1"	""	"00006"	"{PMID:Tompson 2007:17024374}"	""	""	""	"Portugal"	""	"0"	""	""	""	"31773"
"00325902"	""	""	""	"1"	""	"00006"	"{PMID:Tompson 2007:17024374}"	""	""	""	""	""	"0"	""	""	""	"13524"
"00325903"	""	""	""	"1"	""	"00006"	"{PMID:Tompson 2007:17024374}"	""	""	""	""	""	"0"	""	""	""	"33566"
"00325904"	""	""	""	"1"	""	"00006"	"{PMID:Tompson 2007:17024374}"	""	""	""	""	""	"0"	""	""	""	"29726"
"00325905"	""	""	""	"1"	""	"00006"	"{PMID:Tompson 2007:17024374}"	""	""	""	""	""	"0"	""	""	""	"12705"
"00325906"	""	""	""	"1"	""	"00006"	"{PMID:Tompson 2007:17024374}"	""	""	""	""	""	"0"	""	""	""	"11089"
"00325907"	""	""	""	"1"	""	"00006"	"{PMID:Tompson 2007:17024374}"	""	""	""	""	""	"0"	""	""	""	"12539"
"00325908"	""	""	""	"1"	""	"00006"	"{PMID:Tompson 2007:17024374}"	""	""	""	"United States"	""	"0"	""	""	"Amish"	"GM13310"
"00325909"	""	""	""	"13"	""	"00006"	"{PMID:Ulucan 2008:18947413}"	"5-generation family, 13 affected (3F, 11M)"	"F;M"	"yes"	"Turkey"	""	"0"	""	""	""	"family"
"00326006"	""	""	""	"1"	""	"00006"	"{PMID:D\'Asdia 2013:23220543}"	"fetus"	""	"no"	"Italy"	""	"0"	""	""	""	"Pat1"
"00326007"	""	""	""	"1"	""	"00006"	"{PMID:D\'Asdia 2013:23220543}"	""	"M"	"yes"	"Portugal"	""	"0"	""	""	""	"Pat2"
"00326008"	""	""	""	"1"	""	"00006"	"{PMID:D\'Asdia 2013:23220543}"	""	"M"	"no"	"Italy"	""	"0"	""	""	""	"Pat3"
"00326009"	""	""	""	"1"	""	"00006"	"{PMID:D\'Asdia 2013:23220543}"	"fetus"	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	"Pat4"
"00326010"	""	""	""	"1"	""	"00006"	"{PMID:D\'Asdia 2013:23220543}"	""	"F"	"yes"	"Iraq"	""	"0"	""	""	""	"Pat5"
"00326011"	""	""	""	"1"	""	"00006"	"{PMID:D\'Asdia 2013:23220543}"	""	"M"	"no"	"Romania"	""	"0"	""	""	""	"Pat6"
"00326012"	""	""	""	"1"	""	"00006"	"{PMID:D\'Asdia 2013:23220543}"	"fetus"	""	"no"	"Australia"	""	"0"	""	""	""	"Pat7"
"00326013"	""	""	""	"1"	""	"00006"	"{PMID:D\'Asdia 2013:23220543}"	"fetus"	"M"	"no"	"Australia"	""	"0"	""	""	""	"Pat8"
"00326014"	""	""	""	"1"	""	"00006"	"{PMID:D\'Asdia 2013:23220543}"	""	"F"	"no"	"Italy"	""	"0"	""	""	""	"Pat9"
"00326015"	""	""	""	"1"	""	"00006"	"{PMID:D\'Asdia 2013:23220543}"	"fetus"	"F"	"yes"	"Italy"	""	"0"	""	""	""	"Pat10"
"00326016"	""	""	""	"1"	""	"00006"	"{PMID:D\'Asdia 2013:23220543}"	""	"M"	"no"	"Italy"	""	"0"	""	""	""	"Pat11"
"00326017"	""	""	""	"1"	""	"00006"	"{PMID:D\'Asdia 2013:23220543}"	"fetus"	""	"yes"	"Italy"	""	"0"	""	""	""	"Pat12"
"00326018"	""	""	""	"1"	""	"00006"	"{PMID:D\'Asdia 2013:23220543}"	""	"M"	"no"	"Italy"	""	"0"	""	""	""	"Pat13"
"00326019"	""	""	""	"1"	""	"00006"	"{PMID:D\'Asdia 2013:23220543}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	"no"	"Slovakia (Slovak Republic)"	""	"0"	""	""	""	"Pat14"
"00326020"	""	""	""	"1"	""	"00006"	"{PMID:D\'Asdia 2013:23220543}"	""	"M"	"yes"	"Turkey"	""	"0"	""	""	""	"Pat15"
"00326021"	""	""	""	"1"	""	"00006"	"{PMID:D\'Asdia 2013:23220543}"	""	"F"	"no"	"Yugoslavia"	""	"0"	""	""	""	"Pat16"
"00326022"	""	""	""	"1"	""	"00006"	"{PMID:D\'Asdia 2013:23220543}"	""	"F"	"no"	"Italy"	""	"0"	""	""	""	"Pat17"
"00326023"	""	""	""	"1"	""	"00006"	"{PMID:D\'Asdia 2013:23220543}"	"fetus"	"M"	"no"	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat18"
"00326024"	""	""	""	"1"	""	"00006"	"{PMID:D\'Asdia 2013:23220543}"	""	"M"	"yes"	"Algeria"	""	"0"	""	""	""	"Pat19"
"00326025"	""	""	""	"1"	""	"00006"	"{PMID:D\'Asdia 2013:23220543}"	""	""	"no"	"Ireland"	""	"0"	""	""	""	"Pat20"
"00326041"	""	""	""	"1"	""	"00006"	"{PMID:Umm-e-Kalsoom 2009:19744229}"	"4-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents"	"F;M"	"yes"	"Pakistan"	""	"0"	""	""	""	"family"
"00326043"	""	""	""	"2"	""	"00006"	"{PMID:Ali 2010:20184732}"	"4-generation family, 2 affected sisters, unaffected heterozygous carrier parents"	"F"	"yes"	"Sudan"	""	"0"	""	""	""	"Fam2PatV1"
"00326047"	""	""	""	"1"	""	"00006"	"{PMID:Valencia 2009:19810119}"	""	""	"yes"	"Turkey"	""	"0"	""	""	""	"Pat29"
"00326048"	""	""	""	"1"	""	"00006"	"{PMID:Valencia 2009:19810119}"	""	""	"yes"	"Turkey"	""	"0"	""	""	""	"Pat30"
"00326049"	""	""	""	"1"	""	"00006"	"{PMID:Valencia 2009:19810119}"	""	""	"no"	"Spain"	""	"0"	""	""	""	"Pat8"
"00326050"	""	""	""	"1"	""	"00006"	"{PMID:Valencia 2009:19810119}"	""	""	"no"	"Mexico"	""	"0"	""	""	""	"Pat21"
"00326051"	""	""	""	"1"	""	"00006"	"{PMID:Valencia 2009:19810119}"	""	""	"yes"	"Egypt"	""	"0"	""	""	""	"Pat12"
"00326052"	""	""	""	"1"	""	"00006"	"{PMID:Valencia 2009:19810119}"	""	""	"no"	"Spain"	""	"0"	""	""	""	"Pat18"
"00326053"	""	""	""	"1"	""	"00006"	"{PMID:Valencia 2009:19810119}"	""	""	"yes"	"Spain"	""	"0"	""	""	""	"Pat5"
"00326054"	""	""	""	"1"	""	"00006"	"{PMID:Valencia 2009:19810119}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	"no"	"Spain"	""	"0"	""	""	""	"Pat7"
"00326055"	""	""	""	"1"	""	"00006"	"{PMID:Valencia 2009:19810119}"	""	""	"yes"	"Jordan"	""	"0"	""	""	""	"Pat38"
"00326056"	""	""	""	"1"	""	"00006"	"{PMID:Valencia 2009:19810119}"	""	""	"yes"	"Jordan"	""	"0"	""	""	""	"Pat39"
"00326057"	""	""	""	"1"	""	"00006"	"{PMID:Valencia 2009:19810119}"	""	""	"no"	"Spain"	""	"0"	""	""	""	"Pat3"
"00326058"	""	""	""	"1"	""	"00006"	"{PMID:Valencia 2009:19810119}"	""	""	"yes"	"Qatar"	""	"0"	""	""	""	"Pat22"
"00326059"	""	""	""	"1"	""	"00006"	"{PMID:Valencia 2009:19810119}"	""	""	"yes"	"Egypt"	""	"0"	""	""	""	"Pat13"
"00326060"	""	""	""	"1"	""	"00006"	"{PMID:Valencia 2009:19810119}"	""	""	"yes"	"Jordan"	""	"0"	""	""	""	"Pat37"
"00326061"	""	""	""	"1"	""	"00006"	"{PMID:Valencia 2009:19810119}"	""	""	"yes"	"Israel"	""	"0"	""	""	""	"Pat31"
"00326062"	""	""	""	"1"	""	"00006"	"{PMID:Valencia 2009:19810119}"	""	""	"no"	"Netherlands"	""	"0"	""	""	""	"Pat36"
"00326063"	""	""	""	"1"	""	"00006"	"{PMID:Valencia 2009:19810119}"	""	""	"yes"	"Turkey"	""	"0"	""	""	""	"Pat34"
"00326064"	""	""	""	"1"	""	"00006"	"{PMID:Valencia 2009:19810119}"	""	""	"yes"	"Egypt"	""	"0"	""	""	""	"Pat20"
"00331428"	""	""	""	"1"	""	"00000"	"{PMID:Maddirevula 2018:29620724}"	"family"	"M"	"yes"	""	""	"0"	""	""	"Arab"	"16DG0331"
"00388421"	""	""	""	"1"	""	"00000"	"{PMID:Zhang-2019:29068549}"	""	""	""	""	""	"0"	""	""	"white"	"R04-476A"
"00388422"	""	""	""	"1"	""	"00000"	"{PMID:Zhang-2019:29068549}"	""	""	""	""	""	"0"	""	""	"white"	"R06-546"
"00388423"	""	""	""	"1"	""	"00000"	"{PMID:Zhang-2019:29068549}"	""	""	""	""	""	"0"	""	""	"white"	"R95-337"
"00388424"	""	""	""	"1"	""	"00000"	"{PMID:Zhang-2019:29068549}"	""	""	""	""	""	"0"	""	""	"white"	"R11-131A"
"00414339"	""	""	""	"1"	""	"00000"	"{PMID:Sun 2018:30076350}"	""	"F"	""	"China"	""	"0"	""	""	""	"WHP6"
"00416254"	""	""	""	"1"	""	"00006"	"{PMID:Monroe 2016:26845106}"	""	"M"	""	"Netherlands"	""	"0"	""	""	""	"Pat12"
"00436790"	""	""	""	"2"	""	"04573"	"{DOI:Da Silva 2023:10.1016/j.gimo.2023.100781}"	""	"M"	"no"	"Portugal"	">06y"	"0"	"yes"	"surgery for polydactyly"	"white"	"Pat1"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 96
"{{individualid}}"	"{{diseaseid}}"
"00058525"	"00603"
"00293637"	"00198"
"00299448"	"00201"
"00304999"	"00198"
"00307008"	"00603"
"00307010"	"00603"
"00307090"	"00603"
"00307091"	"00603"
"00307092"	"00603"
"00307093"	"00603"
"00307094"	"00603"
"00307095"	"00603"
"00307096"	"00603"
"00307097"	"00603"
"00307098"	"00000"
"00307099"	"00000"
"00307100"	"00000"
"00307101"	"00000"
"00307102"	"00000"
"00307103"	"00000"
"00307104"	"00000"
"00307127"	"00603"
"00325881"	"00603"
"00325882"	"00603"
"00325886"	"00603"
"00325887"	"00603"
"00325888"	"00603"
"00325889"	"00603"
"00325890"	"00603"
"00325891"	"00603"
"00325892"	"00603"
"00325893"	"00603"
"00325894"	"00603"
"00325895"	"00603"
"00325896"	"00603"
"00325897"	"00603"
"00325898"	"00603"
"00325899"	"00603"
"00325900"	"00603"
"00325901"	"00603"
"00325902"	"00603"
"00325903"	"00603"
"00325904"	"00603"
"00325905"	"00603"
"00325906"	"00603"
"00325907"	"00603"
"00325908"	"00603"
"00325909"	"00603"
"00326006"	"00603"
"00326007"	"00603"
"00326008"	"00603"
"00326009"	"00603"
"00326010"	"00603"
"00326011"	"00603"
"00326012"	"00603"
"00326013"	"00603"
"00326014"	"00603"
"00326015"	"00603"
"00326016"	"00603"
"00326017"	"00603"
"00326018"	"00603"
"00326019"	"00603"
"00326020"	"00603"
"00326021"	"00603"
"00326022"	"00603"
"00326023"	"00603"
"00326024"	"00603"
"00326025"	"00603"
"00326041"	"00603"
"00326043"	"00603"
"00326047"	"00603"
"00326048"	"00603"
"00326049"	"00603"
"00326050"	"00603"
"00326051"	"00603"
"00326052"	"00603"
"00326053"	"00603"
"00326054"	"00603"
"00326055"	"00603"
"00326056"	"00603"
"00326057"	"00603"
"00326058"	"00603"
"00326059"	"00603"
"00326060"	"00603"
"00326061"	"00603"
"00326062"	"00603"
"00326063"	"00603"
"00326064"	"00603"
"00331428"	"05517"
"00388421"	"00198"
"00388422"	"00198"
"00388423"	"00198"
"00388424"	"00198"
"00414339"	"00198"
"00416254"	"00198"
"00436790"	"00603"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 00201, 00603, 00604, 05517
## Count = 80
"{{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}}"
"0000045144"	"00603"	"00058525"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000226758"	"00201"	"00299448"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., azoospermia (3/4), oligozoospermia (1/4)"	""	""	""	""	""	""	""	""	"SPGF14"	"reduced sperm levels"	""
"0000232834"	"00603"	"00307008"	"03745"	"Unknown"	""	"Partial AVCD with common atrium, postaxial polydactyly of the left hand and both feet, and agenesis of the upper lateral incisors bilaterally"	""	""	""	""	""	""	""	""	"Ellis van Creveld Syndrome"	"Ellis van Creveld Syndrome"	""
"0000232835"	"00603"	"00307010"	"03745"	"Familial, autosomal recessive"	""	"Single atrium with partial AVCD, and persistent left superior vena cava draining into the left atrium. Bilateral postaxial polydactyly of hands (operated at 4 years) and feet. X-ray showed clinodactyly of the 5th finger, postaxial polydactyly of toes, proximal fusion between 3rd and 4th, and 5th and 6th toes and metatarsal bones at left. Nails showed no abnormalities. Oral anomalies included agenesis of both upper lateral incisors and lower central incisor bilaterally, and multiple frenula between the upper lip and gingiva."	""	""	""	""	""	""	""	""	"Ellis van Creveld Syndrome"	"Ellis van Creveld Syndrome"	""
"0000232909"	"00603"	"00307097"	"00006"	"Unknown"	""	"father/daughter postaxial polydactyly hands and feet, partial atrioventricular canal with common atrium and agenesis upper lateral incisors bilaterally with enamel abnormalities"	""	""	""	""	""	""	""	""	""	"Ellis-van Creveld syndrome"	""
"0000232932"	"00603"	"00307127"	"00006"	"Familial, autosomal recessive"	"30y"	"see paper; ..., height 151 cm; short limbs, polydactyly hands/right foot, no syndactyly, brachydactyly; nail dysplasia; genu valgum; atrial septal defect; hypodontia/dysplastic teeth"	""	""	""	""	""	""	""	""	"EVC"	"Ellis-van Creveld syndrome"	""
"0000244368"	"00603"	"00325881"	"00006"	"Familial, autosomal recessive"	""	"common atrium/partial AV canal, short stature, polydactyly"	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244369"	"00603"	"00325882"	"00006"	"Familial, autosomal recessive"	""	"ccommon atrium/partial AV canal, short stature, polydactyly"	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244373"	"00603"	"00325886"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244374"	"00603"	"00325887"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244375"	"00603"	"00325888"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244376"	"00603"	"00325889"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244377"	"00603"	"00325890"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244378"	"00603"	"00325891"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244379"	"00603"	"00325892"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244380"	"00603"	"00325893"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244381"	"00603"	"00325894"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244382"	"00603"	"00325895"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244383"	"00603"	"00325896"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244384"	"00603"	"00325897"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244385"	"00603"	"00325898"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244386"	"00603"	"00325899"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244387"	"00603"	"00325900"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244388"	"00603"	"00325901"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244389"	"00603"	"00325902"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244390"	"00603"	"00325903"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244391"	"00603"	"00325904"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244392"	"00603"	"00325905"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244393"	"00603"	"00325906"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244394"	"00603"	"00325907"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244395"	"00603"	"00325908"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244396"	"00603"	"00325909"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244491"	"00603"	"00326006"	"00006"	"Familial, autosomal recessive"	"<0d"	"short stature, postaxial polydactyly, short ribs, common atrium, tricuspid valve anomaly"	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244492"	"00603"	"00326007"	"00006"	"Familial, autosomal recessive"	"32y"	"short stature, postaxial polydactyly, hypoplasia of the third phalanges in hands and feet, nail hypoplasia, hypodontia, ichthyosis"	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244493"	"00603"	"00326008"	"00006"	"Familial, autosomal recessive"	"<2d"	"short stature, postaxial polydactyly, short limbs, short ribs, hypoplastic nails, multiple oral frenula"	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244494"	"00603"	"00326009"	"00006"	"Familial, autosomal recessive"	"<0d"	"postaxial polydactyly, short limbs, short ribs, pulmonary hypoplasia, atrial septal defect"	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244495"	"00603"	"00326010"	"00006"	"Familial, autosomal recessive"	"1y"	"short stature, postaxial polydactyly, neonatal teeth"	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244496"	"00603"	"00326011"	"00006"	"Familial, autosomal recessive"	"8y"	"short stature, postaxial polydactyly, short ribs, hypodontia, abnormally shaped teeth, multiple oral frenula, narrow palate, atrial septal defect, club foot, frequent respiratory infections, facial anomalies"	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244497"	"00603"	"00326012"	"00006"	"Familial, autosomal recessive"	"<0d"	"postaxial polydactyly, short limbs, short ribs, no oral frenulae, hypoplastic left ventricle, left ventricle outflow tract obstruction, ventricular septal defect, postaxial polydactyly, anteriorly placed anus, club feet, facial anomalies, syndactyly, coronal cleft in lumbar vertebrae, gallbladder hypoplasia, pyelectasia"	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244498"	"00603"	"00326013"	"00006"	"Familial, autosomal recessive"	"<0d"	"postaxial polydactyly, short limbs, hypoplastic left heart with mitral stenosis, aortic valve atresia, left ventricular and aortic hypoplasia, micrognathia, facial anomalies, syndactyly"	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244499"	"00603"	"00326014"	"00006"	"Familial, autosomal recessive"	"25y"	"short stature, postaxial polydactyly, short ribs, atrial septal defect, hypodontia, carpal bone fusion, bowed humeri, onychodystrophy, brachydactyly"	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244500"	"00603"	"00326015"	"00006"	"Familial, autosomal recessive"	"<0d"	"short stature, postaxial polydactyly, short limbs, short ribs"	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244501"	"00603"	"00326016"	"00006"	"Familial, autosomal recessive"	"6y"	"postaxial polydactyly, hypoplastic nails, multiple oral frenula, teeth anomalies, atrioventricular block"	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244502"	"00603"	"00326017"	"00006"	"Familial, autosomal recessive"	"<0d"	"short stature, postaxial polydactyly, short ribs, partial atrioventricular canal"	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244503"	"00603"	"00326018"	"00006"	"Familial, autosomal recessive"	"4y"	"short stature, postaxial polydactyly, hypoplastic nails, multiple oral frenula, hypodontia and enamel hypoplasia, patent foramen ovale, hypospadias"	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244504"	"00603"	"00326019"	"00006"	"Familial, autosomal recessive"	"6m"	"postaxial polydactyly, short limbs, dysplastic nails, gingival anomalies, complete atrioventricular canal"	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244505"	"00603"	"00326020"	"00006"	"Familial, autosomal recessive"	"1y"	"postaxial polydactyly, uncle with polydactyly hypoplastic nails, multiple oral frenula, neonatal teeth, hypoplastic left heart syndrome, aortic coarctation"	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244506"	"00603"	"00326021"	"00006"	"Familial, autosomal recessive"	"3m"	"short stature, postaxial polydactyly, short ribs, hypoplastic nails, multiple oral frenula, irregular alveolar ridge, premature eruption of teeth, partial atrioventicular canal, aortic coarctation,"	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244507"	"00603"	"00326022"	"00006"	"Familial, autosomal recessive"	"19y"	"short stature, postaxial polydactyly, hypoplastic nails, enamel hypoplasia, hypodontia, abnormally shaped teeth, delayed eruption of teeth, common atrium, tricuspid and mitral valve anomalies, patent ductus arteriosus, genu valgum"	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244508"	"00603"	"00326023"	"00006"	"Familial, autosomal recessive"	"<0d"	"short stature, postaxial polydactyly, short limbs, hypoplastic nails, partial atrioventricular canal"	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244509"	"00603"	"00326024"	"00006"	"Familial, autosomal recessive"	"4m"	"short stature, postaxial polydactyly, short ribs, nail hypoplasia, complete atrioventricular canal, small ventricular septal defect component left superior vena cava drains into left atrium by unroofed coronary sinus, Dandy-Walker malformation, epispadias, hypotonia"	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244510"	"00603"	"00326025"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244526"	"00603"	"00326041"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"EVC"	"Ellis-van Creveld syndrome"	""
"0000244528"	"00603"	"00326043"	"00006"	"Familial, autosomal recessive"	""	"common atrium with dilated coronary sinus; short/thin upper lip, short/multiple frenula, irregular alveolar ridge, natal teeth, short broad nose, long philtrum; postaxial polydactyly hands, limb shortening mesomelic, narrow chest, nail hypoplasia; short long bones, short ribs with narrow chest, small iliac bones with downward spike"	""	""	""	""	""	""	""	""	"EVC"	"Ellis-van Creveld syndrome"	""
"0000244532"	"00603"	"00326047"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244533"	"00603"	"00326048"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244534"	"00603"	"00326049"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244535"	"00603"	"00326050"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244536"	"00603"	"00326051"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244537"	"00603"	"00326052"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244538"	"00603"	"00326053"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244539"	"00603"	"00326054"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244540"	"00603"	"00326055"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244541"	"00603"	"00326056"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244542"	"00603"	"00326057"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244543"	"00603"	"00326058"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244544"	"00603"	"00326059"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244545"	"00603"	"00326060"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244546"	"00603"	"00326061"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244547"	"00603"	"00326062"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244548"	"00603"	"00326063"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000244549"	"00603"	"00326064"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EVC"	"Ellis van Creveld syndrome"	""
"0000249620"	"05517"	"00331428"	"00000"	"Familial, autosomal recessive"	""	"Micromelia, Narrow chest"	""	""	""	""	""	""	""	""	"Ciliopathies with major skeletal involvement"	"skeletal dysplasia"	""
"0000281973"	"00198"	"00388421"	"00000"	"Familial, autosomal recessive"	""	"polydactyly"	""	""	""	""	""	""	""	""	""	"Ellis van Creveld (EVC)"	""
"0000281974"	"00198"	"00388422"	"00000"	"Familial, autosomal recessive"	""	"polydactyly"	""	""	""	""	""	""	""	""	""	"perinatal lethal short-rib polydactyly syndromes (SRPS II)"	""
"0000281975"	"00198"	"00388423"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"perinatal lethal short-rib polydactyly syndromes (SRPS II)"	""
"0000281976"	"00198"	"00388424"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"perinatal lethal short-rib polydactyly syndromes (SRPS II)"	""
"0000306174"	"00198"	"00414339"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"Weyers Acrofacial Dysostosis"	""	""
"0000308021"	"00198"	"00416254"	"00006"	"Unknown"	"00y03m"	"diminished length growth (−5.5 SD) from birth, stationary stiff joints; general severe delayed development; facial dysmorphic features, blepharophimosis, small mouth, poor mimicry; brachydactyly, generalized stiffness, contractures"	""	""	""	""	""	""	""	""	""	""	""
"0000326895"	"00603"	"00436790"	"04573"	"Familial, autosomal recessive"	"02y"	"Neonatal short-limb short stature (HP:0008921), microcephaly (HP:0000252), genu valgum (HP:0002857), bilateral postaxial polydactyly (HP:0006136), no postaxial foot polydactyly (-HP:0001830), nail dysplasia (HP:0002164), nail dystrophy (HP:0008404), 2-3 toe syndactyly (HP:0004691), intellectual disability, mild (HP:0001256)."	"00y"	"02y"	""	""	""	""	""	""	"Ellis van-Creveld Syndrome"	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 96
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000058488"	"00058525"	"1"	"01396"	"01396"	"2016-01-27 18:11:56"	""	""	"SEQ-NG"	"DNA"	""	""
"0000294805"	"00293637"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000300558"	"00299448"	"1"	"00006"	"00006"	"2020-04-16 12:11:25"	""	""	"arraySNP;SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000306128"	"00304999"	"1"	"03575"	"00006"	"2020-06-24 11:55:42"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000308146"	"00307008"	"1"	"03745"	"03745"	"2020-07-27 10:39:06"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"gene panel"
"0000308149"	"00307010"	"1"	"03745"	"03745"	"2020-07-27 11:25:56"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"gene panel"
"0000308232"	"00307090"	"1"	"00006"	"00006"	"2020-07-31 09:45:45"	""	""	"SEQ"	"DNA"	""	""
"0000308233"	"00307091"	"1"	"00006"	"00006"	"2020-07-31 09:50:58"	""	""	"SEQ"	"DNA"	""	""
"0000308234"	"00307092"	"1"	"00006"	"00006"	"2020-07-31 09:57:25"	""	""	"SEQ"	"DNA"	""	""
"0000308235"	"00307093"	"1"	"00006"	"00006"	"2020-07-31 10:07:03"	""	""	"SEQ"	"DNA"	""	""
"0000308236"	"00307094"	"1"	"00006"	"00006"	"2020-07-31 10:09:01"	""	""	"SEQ"	"DNA"	""	""
"0000308237"	"00307095"	"1"	"00006"	"00006"	"2020-07-31 10:11:20"	""	""	"SEQ"	"DNA"	""	""
"0000308238"	"00307096"	"1"	"00006"	"00006"	"2020-07-31 10:14:27"	""	""	"SEQ"	"DNA"	""	""
"0000308239"	"00307097"	"1"	"00006"	"00006"	"2020-07-31 10:23:44"	""	""	"SEQ"	"DNA"	""	""
"0000308240"	"00307098"	"1"	"00006"	"00006"	"2020-07-31 10:33:21"	""	""	"SEQ"	"DNA"	""	""
"0000308241"	"00307099"	"1"	"00006"	"00006"	"2020-07-31 10:33:21"	""	""	"SEQ"	"DNA"	""	""
"0000308242"	"00307100"	"1"	"00006"	"00006"	"2020-07-31 10:33:21"	""	""	"SEQ"	"DNA"	""	""
"0000308243"	"00307101"	"1"	"00006"	"00006"	"2020-07-31 10:33:21"	""	""	"SEQ"	"DNA"	""	""
"0000308244"	"00307102"	"1"	"00006"	"00006"	"2020-07-31 10:33:21"	""	""	"SEQ"	"DNA"	""	""
"0000308245"	"00307103"	"1"	"00006"	"00006"	"2020-07-31 10:33:21"	""	""	"SEQ"	"DNA"	""	""
"0000308246"	"00307104"	"1"	"00006"	"00006"	"2020-07-31 10:33:21"	""	""	"SEQ"	"DNA"	""	""
"0000308269"	"00307127"	"1"	"00006"	"00006"	"2020-08-03 12:56:11"	""	""	"SEQ"	"DNA"	""	""
"0000327091"	"00325881"	"1"	"00006"	"00006"	"2021-01-05 09:10:52"	""	""	"SEQ"	"DNA"	""	""
"0000327092"	"00325882"	"1"	"00006"	"00006"	"2021-01-05 09:10:52"	""	""	"SEQ"	"DNA"	""	""
"0000327096"	"00325886"	"1"	"00006"	"00006"	"2021-01-05 09:10:52"	""	""	"SEQ"	"DNA"	""	""
"0000327097"	"00325887"	"1"	"00006"	"00006"	"2021-01-05 09:10:52"	""	""	"SEQ"	"DNA"	""	""
"0000327098"	"00325888"	"1"	"00006"	"00006"	"2021-01-05 09:10:52"	""	""	"SEQ"	"DNA"	""	""
"0000327099"	"00325889"	"1"	"00006"	"00006"	"2021-01-05 09:10:52"	""	""	"SEQ"	"DNA"	""	""
"0000327100"	"00325890"	"1"	"00006"	"00006"	"2021-01-05 09:10:52"	""	""	"SEQ"	"DNA"	""	""
"0000327101"	"00325891"	"1"	"00006"	"00006"	"2021-01-05 09:10:52"	""	""	"SEQ"	"DNA"	""	""
"0000327102"	"00325892"	"1"	"00006"	"00006"	"2021-01-05 09:10:52"	""	""	"SEQ"	"DNA"	""	""
"0000327103"	"00325893"	"1"	"00006"	"00006"	"2021-01-05 09:10:52"	""	""	"SEQ"	"DNA"	""	""
"0000327104"	"00325894"	"1"	"00006"	"00006"	"2021-01-05 09:10:52"	""	""	"SEQ"	"DNA"	""	""
"0000327105"	"00325895"	"1"	"00006"	"00006"	"2021-01-05 09:10:52"	""	""	"SEQ"	"DNA"	""	""
"0000327106"	"00325896"	"1"	"00006"	"00006"	"2021-01-05 09:10:52"	""	""	"SEQ"	"DNA"	""	""
"0000327107"	"00325897"	"1"	"00006"	"00006"	"2021-01-05 09:10:52"	""	""	"SEQ"	"DNA"	""	""
"0000327108"	"00325898"	"1"	"00006"	"00006"	"2021-01-05 09:10:52"	""	""	"SEQ"	"DNA"	""	""
"0000327109"	"00325899"	"1"	"00006"	"00006"	"2021-01-05 09:10:52"	""	""	"SEQ"	"DNA"	""	""
"0000327110"	"00325900"	"1"	"00006"	"00006"	"2021-01-05 09:10:52"	""	""	"SEQ"	"DNA"	""	""
"0000327111"	"00325901"	"1"	"00006"	"00006"	"2021-01-05 09:10:52"	""	""	"SEQ"	"DNA"	""	""
"0000327112"	"00325902"	"1"	"00006"	"00006"	"2021-01-05 09:10:52"	""	""	"SEQ"	"DNA"	""	""
"0000327113"	"00325903"	"1"	"00006"	"00006"	"2021-01-05 09:10:52"	""	""	"SEQ"	"DNA"	""	""
"0000327114"	"00325904"	"1"	"00006"	"00006"	"2021-01-05 09:10:52"	""	""	"SEQ"	"DNA"	""	""
"0000327115"	"00325905"	"1"	"00006"	"00006"	"2021-01-05 09:10:52"	""	""	"SEQ"	"DNA"	""	""
"0000327116"	"00325906"	"1"	"00006"	"00006"	"2021-01-05 09:10:52"	""	""	"SEQ"	"DNA"	""	""
"0000327117"	"00325907"	"1"	"00006"	"00006"	"2021-01-05 09:10:52"	""	""	"SEQ"	"DNA"	""	""
"0000327118"	"00325908"	"1"	"00006"	"00006"	"2021-01-05 09:10:52"	""	""	"SEQ"	"DNA"	""	""
"0000327119"	"00325909"	"1"	"00006"	"00006"	"2021-01-05 09:10:52"	""	""	"SEQ"	"DNA"	""	""
"0000327216"	"00326006"	"1"	"00006"	"00006"	"2021-01-06 18:59:52"	""	""	"SEQ"	"DNA"	""	""
"0000327217"	"00326007"	"1"	"00006"	"00006"	"2021-01-06 18:59:52"	""	""	"SEQ"	"DNA"	""	""
"0000327218"	"00326008"	"1"	"00006"	"00006"	"2021-01-06 18:59:52"	""	""	"SEQ"	"DNA"	""	""
"0000327219"	"00326009"	"1"	"00006"	"00006"	"2021-01-06 18:59:52"	""	""	"SEQ"	"DNA"	""	""
"0000327220"	"00326010"	"1"	"00006"	"00006"	"2021-01-06 18:59:52"	""	""	"SEQ"	"DNA"	""	""
"0000327221"	"00326011"	"1"	"00006"	"00006"	"2021-01-06 18:59:52"	""	""	"SEQ"	"DNA"	""	""
"0000327222"	"00326012"	"1"	"00006"	"00006"	"2021-01-06 18:59:52"	""	""	"SEQ"	"DNA"	""	""
"0000327223"	"00326013"	"1"	"00006"	"00006"	"2021-01-06 18:59:52"	""	""	"SEQ"	"DNA"	""	""
"0000327224"	"00326014"	"1"	"00006"	"00006"	"2021-01-06 18:59:52"	""	""	"SEQ"	"DNA"	""	""
"0000327225"	"00326015"	"1"	"00006"	"00006"	"2021-01-06 18:59:52"	""	""	"SEQ"	"DNA"	""	""
"0000327226"	"00326016"	"1"	"00006"	"00006"	"2021-01-06 18:59:52"	""	""	"SEQ"	"DNA"	""	""
"0000327227"	"00326017"	"1"	"00006"	"00006"	"2021-01-06 18:59:52"	""	""	"SEQ"	"DNA"	""	""
"0000327228"	"00326018"	"1"	"00006"	"00006"	"2021-01-06 18:59:52"	""	""	"SEQ"	"DNA"	""	""
"0000327229"	"00326019"	"1"	"00006"	"00006"	"2021-01-06 18:59:52"	""	""	"SEQ"	"DNA"	""	""
"0000327230"	"00326020"	"1"	"00006"	"00006"	"2021-01-06 18:59:52"	""	""	"SEQ"	"DNA"	""	""
"0000327231"	"00326021"	"1"	"00006"	"00006"	"2021-01-06 18:59:52"	""	""	"SEQ"	"DNA"	""	""
"0000327232"	"00326022"	"1"	"00006"	"00006"	"2021-01-06 18:59:52"	""	""	"SEQ"	"DNA"	""	""
"0000327233"	"00326023"	"1"	"00006"	"00006"	"2021-01-06 18:59:52"	""	""	"SEQ"	"DNA"	""	""
"0000327234"	"00326024"	"1"	"00006"	"00006"	"2021-01-06 18:59:52"	""	""	"SEQ"	"DNA"	""	""
"0000327235"	"00326025"	"1"	"00006"	"00006"	"2021-01-06 18:59:52"	""	""	"SEQ"	"DNA"	""	""
"0000327251"	"00326041"	"1"	"00006"	"00006"	"2021-01-06 19:42:37"	""	""	"SEQ"	"DNA"	""	""
"0000327253"	"00326043"	"1"	"00006"	"00006"	"2021-01-06 19:54:46"	""	""	"SEQ"	"DNA"	""	""
"0000327257"	"00326047"	"1"	"00006"	"00006"	"2021-01-06 21:50:31"	""	""	"SEQ"	"DNA"	""	""
"0000327258"	"00326048"	"1"	"00006"	"00006"	"2021-01-06 21:50:31"	""	""	"SEQ"	"DNA"	""	""
"0000327259"	"00326049"	"1"	"00006"	"00006"	"2021-01-06 21:50:31"	""	""	"SEQ"	"DNA"	""	""
"0000327260"	"00326050"	"1"	"00006"	"00006"	"2021-01-06 21:50:31"	""	""	"SEQ"	"DNA"	""	""
"0000327261"	"00326051"	"1"	"00006"	"00006"	"2021-01-06 21:50:31"	""	""	"SEQ"	"DNA"	""	""
"0000327262"	"00326052"	"1"	"00006"	"00006"	"2021-01-06 21:50:31"	""	""	"SEQ"	"DNA"	""	""
"0000327263"	"00326053"	"1"	"00006"	"00006"	"2021-01-06 21:50:31"	""	""	"SEQ"	"DNA"	""	""
"0000327264"	"00326054"	"1"	"00006"	"00006"	"2021-01-06 21:50:31"	"00006"	"2021-01-06 22:21:40"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000327265"	"00326055"	"1"	"00006"	"00006"	"2021-01-06 21:50:31"	""	""	"SEQ"	"DNA"	""	""
"0000327266"	"00326056"	"1"	"00006"	"00006"	"2021-01-06 21:50:31"	""	""	"SEQ"	"DNA"	""	""
"0000327267"	"00326057"	"1"	"00006"	"00006"	"2021-01-06 21:50:31"	""	""	"SEQ"	"DNA"	""	""
"0000327268"	"00326058"	"1"	"00006"	"00006"	"2021-01-06 21:50:31"	""	""	"SEQ"	"DNA"	""	""
"0000327269"	"00326059"	"1"	"00006"	"00006"	"2021-01-06 21:50:31"	""	""	"SEQ"	"DNA"	""	""
"0000327270"	"00326060"	"1"	"00006"	"00006"	"2021-01-06 21:50:31"	""	""	"SEQ"	"DNA"	""	""
"0000327271"	"00326061"	"1"	"00006"	"00006"	"2021-01-06 21:50:31"	""	""	"SEQ"	"DNA"	""	""
"0000327272"	"00326062"	"1"	"00006"	"00006"	"2021-01-06 21:50:31"	""	""	"SEQ"	"DNA"	""	""
"0000327273"	"00326063"	"1"	"00006"	"00006"	"2021-01-06 21:50:31"	""	""	"SEQ"	"DNA"	""	""
"0000327274"	"00326064"	"1"	"00006"	"00006"	"2021-01-06 21:50:31"	""	""	"SEQ"	"DNA"	""	""
"0000332647"	"00331428"	"1"	"00000"	"00006"	"2021-02-11 15:29:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000389662"	"00388421"	"1"	"00000"	"00008"	"2021-11-04 08:27:28"	""	""	"SEQ-NG"	"DNA"	""	"Exome sequencing"
"0000389663"	"00388422"	"1"	"00000"	"00008"	"2021-11-04 08:27:28"	""	""	"SEQ-NG"	"DNA"	""	"Exome sequencing"
"0000389664"	"00388423"	"1"	"00000"	"00008"	"2021-11-04 08:27:28"	""	""	"SEQ-NG"	"DNA"	""	"Exome sequencing"
"0000389665"	"00388424"	"1"	"00000"	"00008"	"2021-11-04 08:27:28"	""	""	"SEQ-NG"	"DNA"	""	"Exome sequencing"
"0000415619"	"00414339"	"1"	"00000"	"03840"	"2022-07-28 13:16:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000417534"	"00416254"	"1"	"00006"	"00006"	"2022-08-25 22:12:27"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000438271"	"00436790"	"1"	"04573"	"04573"	"2023-10-07 14:47:49"	""	""	"SEQ;SEQ-NG-I"	"DNA"	"Peripheral blood"	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 140
"{{screeningid}}"	"{{geneid}}"
"0000058488"	"EVC"
"0000058488"	"EVC2"
"0000300558"	"TAF4B"
"0000308146"	"DYNC2H1"
"0000308146"	"DYNC2LI1"
"0000308146"	"EVC"
"0000308146"	"EVC2"
"0000308146"	"WDR35"
"0000308149"	"DYNC2H1"
"0000308149"	"DYNC2LI1"
"0000308149"	"EVC"
"0000308149"	"EVC2"
"0000308149"	"WDR35"
"0000308232"	"EVC"
"0000308233"	"EVC"
"0000308234"	"EVC"
"0000308235"	"EVC"
"0000308236"	"EVC"
"0000308237"	"EVC"
"0000308238"	"EVC"
"0000308239"	"EVC"
"0000308240"	"EVC"
"0000308241"	"EVC"
"0000308242"	"EVC"
"0000308243"	"EVC"
"0000308244"	"EVC"
"0000308245"	"EVC"
"0000308246"	"EVC"
"0000308269"	"EVC"
"0000327091"	"EVC"
"0000327092"	"EVC"
"0000327096"	"EVC"
"0000327097"	"EVC"
"0000327098"	"EVC"
"0000327099"	"EVC"
"0000327100"	"EVC"
"0000327101"	"EVC"
"0000327102"	"EVC"
"0000327103"	"EVC"
"0000327104"	"EVC"
"0000327105"	"EVC"
"0000327106"	"EVC"
"0000327107"	"EVC"
"0000327108"	"EVC"
"0000327109"	"EVC"
"0000327110"	"EVC"
"0000327111"	"EVC"
"0000327112"	"EVC"
"0000327113"	"EVC"
"0000327114"	"EVC"
"0000327115"	"EVC"
"0000327116"	"EVC"
"0000327117"	"EVC"
"0000327118"	"EVC"
"0000327119"	"EVC"
"0000327216"	"EVC"
"0000327216"	"EVC2"
"0000327217"	"EVC"
"0000327217"	"EVC2"
"0000327218"	"EVC"
"0000327218"	"EVC2"
"0000327219"	"EVC"
"0000327219"	"EVC2"
"0000327220"	"EVC"
"0000327220"	"EVC2"
"0000327221"	"EVC"
"0000327221"	"EVC2"
"0000327222"	"EVC"
"0000327222"	"EVC2"
"0000327223"	"EVC"
"0000327223"	"EVC2"
"0000327224"	"EVC"
"0000327224"	"EVC2"
"0000327225"	"EVC"
"0000327225"	"EVC2"
"0000327226"	"EVC"
"0000327226"	"EVC2"
"0000327227"	"EVC"
"0000327227"	"EVC2"
"0000327228"	"EVC"
"0000327228"	"EVC2"
"0000327229"	"EVC"
"0000327229"	"EVC2"
"0000327230"	"EVC"
"0000327230"	"EVC2"
"0000327231"	"EVC"
"0000327231"	"EVC2"
"0000327232"	"EVC"
"0000327232"	"EVC2"
"0000327233"	"EVC"
"0000327233"	"EVC2"
"0000327234"	"EVC"
"0000327234"	"EVC2"
"0000327235"	"EVC"
"0000327235"	"EVC2"
"0000327251"	"EVC"
"0000327251"	"EVC2"
"0000327253"	"EVC"
"0000327257"	"EVC"
"0000327257"	"EVC2"
"0000327258"	"EVC"
"0000327258"	"EVC2"
"0000327259"	"EVC"
"0000327259"	"EVC2"
"0000327260"	"EVC"
"0000327260"	"EVC2"
"0000327261"	"EVC"
"0000327261"	"EVC2"
"0000327262"	"EVC"
"0000327262"	"EVC2"
"0000327263"	"EVC"
"0000327263"	"EVC2"
"0000327264"	"EVC"
"0000327264"	"EVC2"
"0000327265"	"EVC"
"0000327265"	"EVC2"
"0000327266"	"EVC"
"0000327266"	"EVC2"
"0000327267"	"EVC"
"0000327267"	"EVC2"
"0000327268"	"EVC"
"0000327268"	"EVC2"
"0000327269"	"EVC"
"0000327269"	"EVC2"
"0000327270"	"EVC"
"0000327270"	"EVC2"
"0000327271"	"EVC"
"0000327271"	"EVC2"
"0000327272"	"EVC"
"0000327272"	"EVC2"
"0000327273"	"EVC"
"0000327273"	"EVC2"
"0000327274"	"EVC"
"0000327274"	"EVC2"
"0000332647"	"EVC"
"0000389662"	"EVC"
"0000389663"	"EVC"
"0000389664"	"EVC"
"0000389665"	"EVC"
"0000415619"	"EVC"


## 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 = 290
"{{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}}"
"0000089069"	"3"	"90"	"4"	"5731097"	"5731097"	"subst"	"4.06081E-6"	"01396"	"EVC_000001"	"g.5731097C>T"	""	"{PMID:Silveira 2021:34529350}, {DOI:Silveira 2021:10.1002/ajmg.c.31937}"	""	"g.18174C>T"	"ACMG PP4, PM2, PP3, PP5, PS1"	"Germline"	""	""	"0"	""	""	"g.5729370C>T"	""	"pathogenic (recessive)"	""
"0000249053"	"0"	"10"	"4"	"5812195"	"5812195"	"subst"	"0.721523"	"02325"	"EVC_000025"	"g.5812195A>G"	""	""	""	"EVC(NM_153717.3):c.2894+18A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.5810468A>G"	""	"benign"	""
"0000251064"	"0"	"10"	"4"	"5721084"	"5721084"	"subst"	"0.00608314"	"02326"	"EVC_000003"	"g.5721084A>G"	""	""	""	"EVC(NM_001306090.1):c.284A>G (p.(Asp95Gly)), EVC(NM_153717.2):c.284A>G (p.D95G), EVC(NM_153717.3):c.284A>G (p.D95G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.5719357A>G"	""	"benign"	""
"0000251106"	"0"	"10"	"4"	"5755529"	"5755529"	"subst"	"0.00286682"	"02326"	"EVC_000013"	"g.5755529A>C"	""	""	""	"EVC(NM_153717.2):c.1333A>C (p.(Lys445Gln)), EVC(NM_153717.3):c.1333A>C (p.K445Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.5753802A>C"	""	"benign"	""
"0000267904"	"0"	"10"	"4"	"5812778"	"5812778"	"subst"	"0.580967"	"02325"	"EVC_000026"	"g.5812778G>A"	""	""	""	"EVC(NM_153717.3):c.*14G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.5811051G>A"	""	"benign"	""
"0000267905"	"0"	"10"	"4"	"5749961"	"5749961"	"subst"	"0.482441"	"02325"	"EVC_000011"	"g.5749961G>C"	""	""	""	"EVC(NM_153717.3):c.1026G>C (p.L342=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.5748234G>C"	""	"benign"	""
"0000267906"	"0"	"10"	"4"	"5755542"	"5755542"	"subst"	"0.790113"	"02325"	"EVC_000014"	"g.5755542C>A"	""	""	""	"EVC(NM_153717.3):c.1346C>A (p.T449K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.5753815C>A"	""	"benign"	""
"0000267907"	"0"	"10"	"4"	"5785442"	"5785442"	"subst"	"0.348647"	"02325"	"EVC_000017"	"g.5785442G>A"	""	""	""	"EVC(NM_153717.3):c.1727G>A (p.R576Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.5783715G>A"	""	"benign"	""
"0000267908"	"0"	"10"	"4"	"5795412"	"5795412"	"subst"	"0.356287"	"02325"	"EVC_000019"	"g.5795412C>T"	""	""	""	"EVC(NM_153717.3):c.1854C>T (p.G618=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.5793685C>T"	""	"benign"	""
"0000267909"	"0"	"10"	"4"	"5803836"	"5803836"	"del"	"0"	"02325"	"EVC_000024"	"g.5803836del"	""	""	""	"EVC(NM_153717.3):c.2449+15delC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.5802109del"	""	"benign"	""
"0000267910"	"0"	"10"	"4"	"5743509"	"5743509"	"subst"	"0.947659"	"02325"	"EVC_000006"	"g.5743509C>T"	""	""	""	"EVC(NM_153717.3):c.769C>T (p.L257=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.5741782C>T"	""	"benign"	""
"0000267911"	"0"	"10"	"4"	"5743512"	"5743512"	"subst"	"0.796736"	"02325"	"EVC_000007"	"g.5743512T>C"	""	""	""	"EVC(NM_153717.3):c.772T>C (p.Y258H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.5741785T>C"	""	"benign"	""
"0000267912"	"0"	"10"	"4"	"5747072"	"5747072"	"subst"	"0.381626"	"02325"	"EVC_000008"	"g.5747072C>T"	""	""	""	"EVC(NM_153717.3):c.939+4C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.5745345C>T"	""	"benign"	""
"0000267913"	"0"	"10"	"4"	"5749904"	"5749904"	"subst"	"0.413156"	"02325"	"EVC_000010"	"g.5749904T>C"	""	""	""	"EVC(NM_153717.3):c.969T>C (p.N323=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.5748177T>C"	""	"benign"	""
"0000268929"	"0"	"90"	"4"	"5735077"	"5735077"	"subst"	"0"	"02329"	"EVC_000005"	"g.5735077G>A"	""	""	""	"EVC(NM_153717.3):c.618-1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.5733350G>A"	""	"pathogenic"	""
"0000271253"	"0"	"10"	"4"	"5755516"	"5755516"	"subst"	"0.0144197"	"02326"	"EVC_000012"	"g.5755516T>A"	""	""	""	"EVC(NM_001306090.1):c.1320T>A (p.(Phe440Leu)), EVC(NM_153717.3):c.1320T>A (p.F440L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.5753789T>A"	""	"benign"	""
"0000271254"	"0"	"30"	"4"	"5755601"	"5755601"	"subst"	"4.06091E-6"	"02326"	"EVC_000015"	"g.5755601G>A"	""	""	""	"EVC(NM_153717.3):c.1405G>A (p.E469K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.5753874G>A"	""	"likely benign"	""
"0000271255"	"0"	"10"	"4"	"5758054"	"5758054"	"subst"	"0.00164877"	"02326"	"EVC_000016"	"g.5758054G>A"	""	""	""	"EVC(NM_153717.2):c.1528G>A (p.V510I, p.(Val510Ile)), EVC(NM_153717.3):c.1528G>A (p.V510I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.5756327G>A"	""	"benign"	""
"0000271256"	"0"	"10"	"4"	"5800494"	"5800494"	"subst"	"0.0250226"	"02326"	"EVC_000022"	"g.5800494G>A"	""	""	""	"EVC(NM_153717.2):c.2279G>A (p.(Arg760Gln)), EVC(NM_153717.3):c.2279G>A (p.R760Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.5798767G>A"	""	"benign"	""
"0000271257"	"0"	"10"	"4"	"5803735"	"5803735"	"subst"	"0.00272995"	"02326"	"EVC_000023"	"g.5803735G>A"	""	""	""	"EVC(NM_001306090.1):c.2363G>A (p.(Arg788His)), EVC(NM_153717.3):c.2363G>A (p.R788H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.5802008G>A"	""	"benign"	""
"0000271258"	"0"	"30"	"4"	"5713196"	"5713196"	"subst"	"0"	"02326"	"EVC_000002"	"g.5713196C>T"	""	""	""	"EVC(NM_153717.2):c.89C>T (p.(Pro30Leu)), EVC(NM_153717.3):c.89C>T (p.P30L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.5711469C>T"	""	"likely benign"	""
"0000271259"	"0"	"10"	"4"	"5747079"	"5747079"	"subst"	"0.00610549"	"02326"	"EVC_000009"	"g.5747079G>T"	""	""	""	"EVC(NM_153717.3):c.939+11G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.5745352G>T"	""	"benign"	""
"0000271260"	"0"	"10"	"4"	"5710255"	"5710255"	"subst"	"0.132807"	"02326"	"EVC2_000039"	"g.5710255C>T"	""	""	""	"EVC2(NM_147127.5):c.-15G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.5708528C>T"	""	"benign"	""
"0000271268"	"0"	"10"	"4"	"5710189"	"5710189"	"subst"	"0.152165"	"02326"	"EVC2_000038"	"g.5710189G>A"	""	""	""	"EVC2(NM_147127.5):c.52C>T (p.L18F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.5708462G>A"	""	"benign"	""
"0000276423"	"0"	"30"	"4"	"5710119"	"5710119"	"subst"	"0.00361849"	"01943"	"EVC2_000037"	"g.5710119G>T"	""	""	""	"EVC2(NM_147127.4):c.122C>A (p.P41H, p.(Pro41His)), EVC2(NM_147127.5):c.122C>A (p.P41H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.5708392G>T"	""	"likely benign"	""
"0000329881"	"0"	"50"	"4"	"5713196"	"5713196"	"subst"	"0"	"01804"	"EVC_000002"	"g.5713196C>T"	""	""	""	"EVC(NM_153717.2):c.89C>T (p.(Pro30Leu)), EVC(NM_153717.3):c.89C>T (p.P30L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.5711469C>T"	""	"VUS"	""
"0000329882"	"0"	"50"	"4"	"5733206"	"5733206"	"subst"	"0"	"01804"	"EVC_000004"	"g.5733206G>C"	""	""	""	"EVC(NM_153717.2):c.439G>C (p.(Val147Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.5731479G>C"	""	"VUS"	""
"0000329883"	"0"	"30"	"4"	"5755516"	"5755516"	"subst"	"0.0144197"	"01804"	"EVC_000012"	"g.5755516T>A"	""	""	""	"EVC(NM_001306090.1):c.1320T>A (p.(Phe440Leu)), EVC(NM_153717.3):c.1320T>A (p.F440L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.5753789T>A"	""	"likely benign"	""
"0000329884"	"0"	"30"	"4"	"5755529"	"5755529"	"subst"	"0.00286682"	"01804"	"EVC_000013"	"g.5755529A>C"	""	""	""	"EVC(NM_153717.2):c.1333A>C (p.(Lys445Gln)), EVC(NM_153717.3):c.1333A>C (p.K445Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.5753802A>C"	""	"likely benign"	""
"0000329885"	"0"	"30"	"4"	"5795384"	"5795384"	"subst"	"0.00169878"	"01804"	"EVC_000018"	"g.5795384G>A"	""	""	""	"EVC(NM_153717.2):c.1826G>A (p.R609Q, p.(Arg609Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.5793657G>A"	""	"likely benign"	""
"0000338433"	"0"	"10"	"4"	"5746916"	"5746916"	"subst"	"0.597029"	"02327"	"EVC_000029"	"g.5746916C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.5745189C>T"	""	"benign"	""
"0000338434"	"0"	"10"	"4"	"5747078"	"5747078"	"subst"	"0.621786"	"02327"	"EVC_000030"	"g.5747078A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.5745351A>G"	""	"benign"	""
"0000338435"	"0"	"10"	"4"	"5754544"	"5754544"	"subst"	"0.408483"	"02327"	"EVC_000032"	"g.5754544T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.5752817T>C"	""	"benign"	""
"0000338444"	"0"	"10"	"4"	"5803669"	"5803669"	"subst"	"0.720361"	"02327"	"EVC_000033"	"g.5803669T>C"	""	""	""	"EVC(NM_153717.3):c.2305-8T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.5801942T>C"	""	"benign"	""
"0000338445"	"0"	"10"	"4"	"5812195"	"5812195"	"subst"	"0.721523"	"02327"	"EVC_000025"	"g.5812195A>G"	""	""	""	"EVC(NM_153717.3):c.2894+18A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.5810468A>G"	""	"benign"	""
"0000338446"	"0"	"10"	"4"	"5812778"	"5812778"	"subst"	"0.580967"	"02327"	"EVC_000026"	"g.5812778G>A"	""	""	""	"EVC(NM_153717.3):c.*14G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.5811051G>A"	""	"benign"	""
"0000340247"	"0"	"10"	"4"	"5743509"	"5743509"	"subst"	"0.947659"	"02327"	"EVC_000006"	"g.5743509C>T"	""	""	""	"EVC(NM_153717.3):c.769C>T (p.L257=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.5741782C>T"	""	"benign"	""
"0000340248"	"0"	"10"	"4"	"5749904"	"5749904"	"subst"	"0.413156"	"02327"	"EVC_000010"	"g.5749904T>C"	""	""	""	"EVC(NM_153717.3):c.969T>C (p.N323=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.5748177T>C"	""	"benign"	""
"0000340249"	"0"	"10"	"4"	"5749961"	"5749961"	"subst"	"0.482441"	"02327"	"EVC_000011"	"g.5749961G>C"	""	""	""	"EVC(NM_153717.3):c.1026G>C (p.L342=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.5748234G>C"	""	"benign"	""
"0000340250"	"0"	"10"	"4"	"5750003"	"5750003"	"subst"	"0.297388"	"02327"	"EVC_000031"	"g.5750003A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.5748276A>G"	""	"benign"	""
"0000343122"	"0"	"10"	"4"	"5785442"	"5785442"	"subst"	"0.348647"	"02327"	"EVC_000017"	"g.5785442G>A"	""	""	""	"EVC(NM_153717.3):c.1727G>A (p.R576Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.5783715G>A"	""	"benign"	""
"0000349522"	"0"	"10"	"4"	"5755542"	"5755542"	"subst"	"0.790113"	"02327"	"EVC_000014"	"g.5755542C>A"	""	""	""	"EVC(NM_153717.3):c.1346C>A (p.T449K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.5753815C>A"	""	"benign"	""
"0000350007"	"0"	"10"	"4"	"5743512"	"5743512"	"subst"	"0.796736"	"02327"	"EVC_000007"	"g.5743512T>C"	""	""	""	"EVC(NM_153717.3):c.772T>C (p.Y258H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.5741785T>C"	""	"benign"	""
"0000522725"	"0"	"30"	"4"	"5710119"	"5710119"	"subst"	"0.00361849"	"01804"	"EVC2_000037"	"g.5710119G>T"	""	""	""	"EVC2(NM_147127.4):c.122C>A (p.P41H, p.(Pro41His)), EVC2(NM_147127.5):c.122C>A (p.P41H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.5708392G>T"	""	"likely benign"	""
"0000522726"	"0"	"30"	"4"	"5710179"	"5710179"	"subst"	"0"	"01943"	"EVC_000036"	"g.5710179A>G"	""	""	""	"EVC2(NM_147127.4):c.62T>C (p.V21A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.5708452A>G"	""	"likely benign"	""
"0000522727"	"0"	"30"	"4"	"5721030"	"5721030"	"subst"	"1.2182E-5"	"01804"	"EVC_000037"	"g.5721030C>T"	""	""	""	"EVC(NM_001306090.1):c.230C>T (p.(Ser77Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.5719303C>T"	""	"likely benign"	""
"0000522728"	"0"	"10"	"4"	"5721084"	"5721084"	"subst"	"0.00608314"	"01804"	"EVC_000003"	"g.5721084A>G"	""	""	""	"EVC(NM_001306090.1):c.284A>G (p.(Asp95Gly)), EVC(NM_153717.2):c.284A>G (p.D95G), EVC(NM_153717.3):c.284A>G (p.D95G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.5719357A>G"	""	"benign"	""
"0000522730"	"0"	"30"	"4"	"5731074"	"5731074"	"subst"	"0.0193454"	"01804"	"EVC_000038"	"g.5731074C>T"	""	""	""	"EVC(NM_153717.2):c.341C>T (p.(Ala114Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.5729347C>T"	""	"likely benign"	""
"0000522731"	"0"	"30"	"4"	"5733236"	"5733236"	"subst"	"0.00494872"	"01804"	"EVC_000039"	"g.5733236C>G"	""	""	""	"EVC(NM_001306090.1):c.469C>G (p.(Pro157Ala)), EVC(NM_153717.2):c.469C>G (p.P157A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.5731509C>G"	""	"likely benign"	""
"0000522732"	"0"	"30"	"4"	"5733240"	"5733240"	"subst"	"0.00434701"	"01804"	"EVC_000040"	"g.5733240C>G"	""	""	""	"EVC(NM_153717.2):c.473C>G (p.(Ser158Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.5731513C>G"	""	"likely benign"	""
"0000522733"	"0"	"30"	"4"	"5733317"	"5733317"	"subst"	"0.00220694"	"01804"	"EVC_000041"	"g.5733317G>A"	""	""	""	"EVC(NM_001306090.1):c.550G>A (p.(Asp184Asn)), EVC(NM_153717.2):c.550G>A (p.D184N), EVC(NM_153717.3):c.550G>A (p.D184N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.5731590G>A"	""	"likely benign"	""
"0000522734"	"0"	"30"	"4"	"5733317"	"5733317"	"subst"	"0.00220694"	"02325"	"EVC_000041"	"g.5733317G>A"	""	""	""	"EVC(NM_001306090.1):c.550G>A (p.(Asp184Asn)), EVC(NM_153717.2):c.550G>A (p.D184N), EVC(NM_153717.3):c.550G>A (p.D184N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.5731590G>A"	""	"likely benign"	""
"0000522735"	"0"	"10"	"4"	"5746919"	"5746920"	"del"	"0.00957766"	"02326"	"EVC_000042"	"g.5746919_5746920del"	""	""	""	"EVC(NM_153717.3):c.802-12_802-11delCT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.5745192_5745193del"	""	"benign"	""
"0000522737"	"0"	"30"	"4"	"5747063"	"5747063"	"subst"	"0.00204289"	"01804"	"EVC_000044"	"g.5747063G>A"	""	""	""	"EVC(NM_153717.2):c.934G>A (p.D312N, p.(Asp312Asn)), EVC(NM_153717.3):c.934G>A (p.D312N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.5745336G>A"	""	"likely benign"	""
"0000522738"	"0"	"10"	"4"	"5747072"	"5747072"	"subst"	"0.381626"	"02327"	"EVC_000008"	"g.5747072C>T"	""	""	""	"EVC(NM_153717.3):c.939+4C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.5745345C>T"	""	"benign"	""
"0000522739"	"0"	"30"	"4"	"5749975"	"5749975"	"subst"	"0.000471043"	"01943"	"EVC_000045"	"g.5749975C>T"	""	""	""	"EVC(NM_153717.2):c.1040C>T (p.T347M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.5748248C>T"	""	"likely benign"	""
"0000522740"	"0"	"30"	"4"	"5750031"	"5750031"	"subst"	"0.00757262"	"01804"	"EVC_000046"	"g.5750031C>T"	""	""	""	"EVC(NM_001306090.1):c.1096C>T (p.(Leu366=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.5748304C>T"	""	"likely benign"	""
"0000522741"	"0"	"30"	"4"	"5754565"	"5754565"	"subst"	"2.03264E-5"	"01804"	"EVC_000047"	"g.5754565C>T"	""	""	""	"EVC(NM_153717.2):c.1101C>T (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.5752838C>T"	""	"likely benign"	""
"0000522742"	"0"	"10"	"4"	"5754579"	"5754579"	"subst"	"0.0678233"	"02327"	"EVC_000048"	"g.5754579C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.5752852C>T"	""	"benign"	""
"0000522745"	"0"	"30"	"4"	"5755524"	"5755524"	"subst"	"0.0171529"	"01804"	"EVC_000051"	"g.5755524G>A"	""	""	""	"EVC(NM_153717.2):c.1328G>A (p.(Arg443Gln)), EVC(NM_153717.3):c.1328G>A (p.R443Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.5753797G>A"	""	"likely benign"	""
"0000522746"	"0"	"10"	"4"	"5755524"	"5755524"	"subst"	"0.0171529"	"02325"	"EVC_000051"	"g.5755524G>A"	""	""	""	"EVC(NM_153717.2):c.1328G>A (p.(Arg443Gln)), EVC(NM_153717.3):c.1328G>A (p.R443Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.5753797G>A"	""	"benign"	""
"0000522747"	"0"	"10"	"4"	"5755524"	"5755524"	"subst"	"0.0171529"	"02326"	"EVC_000051"	"g.5755524G>A"	""	""	""	"EVC(NM_153717.2):c.1328G>A (p.(Arg443Gln)), EVC(NM_153717.3):c.1328G>A (p.R443Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.5753797G>A"	""	"benign"	""
"0000522748"	"0"	"30"	"4"	"5755565"	"5755565"	"subst"	"0.00208717"	"01804"	"EVC_000052"	"g.5755565G>A"	""	""	""	"EVC(NM_001306090.1):c.1369G>A (p.(Glu457Lys)), EVC(NM_153717.2):c.1369G>A (p.E457K), EVC(NM_153717.3):c.1369G>A (p.E457K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.5753838G>A"	""	"likely benign"	""
"0000522751"	"0"	"50"	"4"	"5757998"	"5757998"	"subst"	"0"	"01804"	"EVC_000055"	"g.5757998A>T"	""	""	""	"EVC(NM_153717.2):c.1472A>T (p.(His491Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.5756271A>T"	""	"VUS"	""
"0000522752"	"0"	"30"	"4"	"5758029"	"5758029"	"subst"	"0"	"01804"	"EVC_000056"	"g.5758029G>T"	""	""	""	"EVC(NM_153717.2):c.1503G>T (p.(Gln501His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.5756302G>T"	""	"likely benign"	""
"0000522753"	"0"	"30"	"4"	"5758054"	"5758054"	"subst"	"0.00164877"	"01943"	"EVC_000016"	"g.5758054G>A"	""	""	""	"EVC(NM_153717.2):c.1528G>A (p.V510I, p.(Val510Ile)), EVC(NM_153717.3):c.1528G>A (p.V510I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.5756327G>A"	""	"likely benign"	""
"0000522754"	"0"	"30"	"4"	"5758054"	"5758054"	"subst"	"0.00164877"	"01804"	"EVC_000016"	"g.5758054G>A"	""	""	""	"EVC(NM_153717.2):c.1528G>A (p.V510I, p.(Val510Ile)), EVC(NM_153717.3):c.1528G>A (p.V510I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.5756327G>A"	""	"likely benign"	""
"0000522763"	"0"	"90"	"4"	"5785416"	"5785416"	"subst"	"0"	"02327"	"EVC_000057"	"g.5785416G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.5783689G>A"	""	"pathogenic"	""
"0000522764"	"0"	"30"	"4"	"5785498"	"5785498"	"del"	"0"	"01804"	"EVC_000058"	"g.5785498del"	""	""	""	"EVC(NM_153717.2):c.1776+7del (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.5783771del"	""	"likely benign"	""
"0000522767"	"0"	"10"	"4"	"5795412"	"5795412"	"subst"	"0.356287"	"02327"	"EVC_000019"	"g.5795412C>T"	""	""	""	"EVC(NM_153717.3):c.1854C>T (p.G618=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.5793685C>T"	""	"benign"	""
"0000522768"	"0"	"30"	"4"	"5798769"	"5798769"	"subst"	"3.70422E-5"	"01804"	"EVC_000059"	"g.5798769A>G"	""	""	""	"EVC(NM_153717.2):c.1907A>G (p.(Gln636Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.5797042A>G"	""	"likely benign"	""
"0000522770"	"0"	"30"	"4"	"5800494"	"5800494"	"subst"	"0.0250226"	"01804"	"EVC_000022"	"g.5800494G>A"	""	""	""	"EVC(NM_153717.2):c.2279G>A (p.(Arg760Gln)), EVC(NM_153717.3):c.2279G>A (p.R760Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.5798767G>A"	""	"likely benign"	""
"0000522771"	"0"	"10"	"4"	"5803669"	"5803669"	"subst"	"0.720361"	"02325"	"EVC_000033"	"g.5803669T>C"	""	""	""	"EVC(NM_153717.3):c.2305-8T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.5801942T>C"	""	"benign"	""
"0000522772"	"0"	"30"	"4"	"5803693"	"5803693"	"subst"	"2.84548E-5"	"01804"	"EVC_000061"	"g.5803693C>T"	""	""	""	"EVC(NM_153717.2):c.2321C>T (p.(Ala774Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.5801966C>T"	""	"likely benign"	""
"0000522773"	"0"	"30"	"4"	"5803722"	"5803722"	"subst"	"0.000195019"	"01804"	"EVC_000062"	"g.5803722G>A"	""	""	""	"EVC(NM_153717.2):c.2350G>A (p.(Ala784Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.5801995G>A"	""	"likely benign"	""
"0000522774"	"0"	"10"	"4"	"5803735"	"5803735"	"subst"	"0.00272995"	"01804"	"EVC_000023"	"g.5803735G>A"	""	""	""	"EVC(NM_001306090.1):c.2363G>A (p.(Arg788His)), EVC(NM_153717.3):c.2363G>A (p.R788H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.5802008G>A"	""	"benign"	""
"0000522775"	"0"	"30"	"4"	"5806511"	"5806511"	"subst"	"0"	"01804"	"EVC_000063"	"g.5806511C>T"	""	""	""	"EVC(NM_001306090.1):c.2504C>T (p.(Ser835Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.5804784C>T"	""	"likely benign"	""
"0000522776"	"0"	"30"	"4"	"5809924"	"5809924"	"subst"	"0.00607333"	"01804"	"EVC_000064"	"g.5809924C>G"	""	""	""	"EVC(NM_001306090.1):c.2562-4C>G (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.5808197C>G"	""	"likely benign"	""
"0000522777"	"0"	"50"	"4"	"5812112"	"5812113"	"del"	"0"	"01804"	"EVC_000065"	"g.5812112_5812113del"	""	""	""	"EVC(NM_153717.3):c.2829_2830del (p.(Asp945Profs*7))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.5810385_5810386del"	""	"VUS"	""
"0000609248"	"0"	"30"	"4"	"5733236"	"5733236"	"subst"	"0.00494872"	"01943"	"EVC_000039"	"g.5733236C>G"	""	""	""	"EVC(NM_001306090.1):c.469C>G (p.(Pro157Ala)), EVC(NM_153717.2):c.469C>G (p.P157A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.5731509C>G"	""	"likely benign"	""
"0000609249"	"0"	"50"	"4"	"5733283"	"5733283"	"subst"	"4.06312E-6"	"01943"	"EVC_000066"	"g.5733283C>G"	""	""	""	"EVC(NM_153717.2):c.516C>G (p.C172W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.5731556C>G"	""	"VUS"	""
"0000609252"	"0"	"90"	"4"	"5747002"	"5747002"	"dup"	"0"	"02327"	"EVC_000067"	"g.5747002dup"	""	""	""	"EVC(NM_153717.2):c.873dupT (p.(Glu292fs)), EVC(NM_153717.2):c.873dupT (p.E292*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.5745275dup"	""	"pathogenic"	""
"0000609253"	"0"	"30"	"4"	"5785351"	"5785351"	"subst"	"0.00054418"	"01804"	"EVC_000069"	"g.5785351A>G"	""	""	""	"EVC(NM_001306090.1):c.1636A>G (p.(Met546Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.5783624A>G"	""	"likely benign"	""
"0000609254"	"0"	"30"	"4"	"5795384"	"5795384"	"subst"	"0.00169878"	"01943"	"EVC_000018"	"g.5795384G>A"	""	""	""	"EVC(NM_153717.2):c.1826G>A (p.R609Q, p.(Arg609Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.5793657G>A"	""	"likely benign"	""
"0000621402"	"0"	"30"	"4"	"5733317"	"5733317"	"subst"	"0.00220694"	"01943"	"EVC_000041"	"g.5733317G>A"	""	""	""	"EVC(NM_001306090.1):c.550G>A (p.(Asp184Asn)), EVC(NM_153717.2):c.550G>A (p.D184N), EVC(NM_153717.3):c.550G>A (p.D184N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.5731590G>A"	""	"likely benign"	""
"0000621403"	"0"	"30"	"4"	"5747077"	"5747077"	"subst"	"0.00166535"	"01943"	"EVC_000068"	"g.5747077C>T"	""	""	""	"EVC(NM_153717.2):c.939+9C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.5745350C>T"	""	"likely benign"	""
"0000621404"	"0"	"30"	"4"	"5755565"	"5755565"	"subst"	"0.00208717"	"01943"	"EVC_000052"	"g.5755565G>A"	""	""	""	"EVC(NM_001306090.1):c.1369G>A (p.(Glu457Lys)), EVC(NM_153717.2):c.1369G>A (p.E457K), EVC(NM_153717.3):c.1369G>A (p.E457K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.5753838G>A"	""	"likely benign"	""
"0000621406"	"0"	"30"	"4"	"5812748"	"5812748"	"subst"	"0"	"01943"	"EVC_000070"	"g.5812748G>A"	""	""	""	"EVC(NM_153717.2):c.2963G>A (p.R988K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.5811021G>A"	""	"likely benign"	""
"0000651494"	"1"	"10"	"4"	"5731074"	"5731074"	"subst"	"0.0193454"	"03575"	"EVC_000038"	"g.5731074C>T"	"126/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"126 heterozygous; {DB:CLININrs16837598}"	"Germline"	""	"rs16837598"	"0"	""	""	"g.5729347C>T"	""	"benign"	""
"0000663275"	"3"	"30"	"4"	"5755565"	"5755565"	"subst"	"0.00208717"	"00006"	"EVC_000052"	"g.5755565G>A"	""	"{PMID:Ayhan 2014:24431330}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.5753838G>A"	""	"likely benign"	""
"0000669816"	"3"	"10"	"4"	"5731074"	"5731074"	"subst"	"0.0193454"	"03575"	"EVC_000038"	"g.5731074C>T"	"4/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"4 homozygous; {DB:CLININrs16837598}"	"Germline"	""	"rs16837598"	"0"	""	""	"g.5729347C>T"	""	"benign"	""
"0000674988"	"0"	"70"	"4"	"5798850"	"5798850"	"subst"	"1.63187E-5"	"03745"	"EVC_000084"	"g.5798850G>C"	""	""	""	""	""	"Germline"	"yes"	"rs372089496"	"0"	""	""	""	""	"VUS"	"ACMG"
"0000675112"	"0"	"90"	"4"	"5795422"	"5795422"	"subst"	"0"	"03745"	"EVC_000085"	"g.5795422C>T"	""	""	""	""	""	"Germline"	"yes"	"rs1329006994"	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000675113"	"0"	"10"	"4"	"5795383"	"5795383"	"subst"	"0"	"03745"	"EVC_000083"	"g.5795383C>T"	""	""	""	""	""	"Germline"	"yes"	"rs748220728"	"0"	""	""	""	""	"likely benign"	"ACMG"
"0000675115"	"0"	"10"	"4"	"5755524"	"5755524"	"subst"	"0.0171529"	"03745"	"EVC_000051"	"g.5755524G>A"	""	""	""	""	""	"Germline"	"yes"	"rs35953626"	"0"	""	""	""	"{CV:5342}"	"benign"	"ACMG"
"0000675120"	"1"	"90"	"4"	"5749953"	"5749953"	"subst"	"1.2182E-5"	"00006"	"EVC_000071"	"g.5749953C>T"	""	"{PMID:Ruiz-Perez 2000:10700184}, {DOI:Ruiz-Perez 2000:10.1038/73508}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000675121"	"2"	"90"	"4"	"5743474"	"5743474"	"del"	"0"	"00006"	"EVC_000072"	"g.5743474del"	""	"{PMID:Ruiz-Perez 2000:10700184}, {DOI:Ruiz-Perez 2000:10.1038/73508}"	""	"734delT"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000675122"	"21"	"90"	"4"	"5747048"	"5747048"	"subst"	"4.87322E-5"	"00006"	"EVC_000073"	"g.5747048T>C"	""	"{PMID:Ruiz-Perez 2000:10700184}, {DOI:Ruiz-Perez 2000:10.1038/73508}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000675123"	"11"	"90"	"4"	"5806463"	"5806463"	"del"	"0"	"00006"	"EVC_000074"	"g.5806463del"	""	"{PMID:Ruiz-Perez 2000:10700184}, {DOI:Ruiz-Perez 2000:10.1038/73508}"	""	"2456delG"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000675124"	"3"	"90"	"4"	"5795449"	"5795449"	"subst"	"6.78316E-6"	"00006"	"EVC_000075"	"g.5795449G>T"	""	"{PMID:Ruiz-Perez 2000:10700184}, {DOI:Ruiz-Perez 2000:10.1038/73508}"	""	"IVS13+5G>T"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000675125"	"3"	"10"	"4"	"5800494"	"5800494"	"subst"	"0.0250226"	"00006"	"EVC_000022"	"g.5800494G>A"	"2/194 control chromosomes"	"{PMID:Ruiz-Perez 2000:10700184}, {DOI:Ruiz-Perez 2000:10.1038/73508}"	""	"R760Q"	"found in 2/194 control chromosomes"	"Germline"	"yes"	""	"0"	""	""	""	""	"benign"	""
"0000675126"	"3"	"90"	"4"	"5747033"	"5747035"	"del"	"0"	"00006"	"EVC_000076"	"g.5747033_5747035del"	""	"{PMID:Ruiz-Perez 2000:10700184}, {DOI:Ruiz-Perez 2000:10.1038/73508}"	""	"904_906delAAG"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000675127"	"3"	"90"	"4"	"5747039"	"5747040"	"ins"	"0"	"00006"	"EVC_000077"	"g.5747039_5747040insA"	""	"{PMID:Ruiz-Perez 2000:10700184}, {DOI:Ruiz-Perez 2000:10.1038/73508}"	""	"910-911insA"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000675128"	"3"	"90"	"4"	"5810001"	"5810001"	"subst"	"1.21916E-5"	"00006"	"EVC_000078"	"g.5810001C>T"	""	"{PMID:Ruiz-Perez 2000:10700184}, {DOI:Ruiz-Perez 2000:10.1038/73508}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000675129"	"3"	"90"	"4"	"5785278"	"5816031"	"del"	"0"	"00006"	"EVC_000079"	"g.(5758090_5785278)_(5816031_?)del"	""	"{PMID:Ruiz-Perez 2000:10700184}, {DOI:Ruiz-Perez 2000:10.1038/73508}"	""	"del ex12-21"	""	"Germline"	""	""	"0"	""	""	"g.(5756363_5783551)_(5814304_?)del"	""	"pathogenic (recessive)"	""
"0000675130"	"11"	"70"	"4"	"5755524"	"5755524"	"subst"	"0.0171529"	"00006"	"EVC_000051"	"g.5755524G>A"	""	"{PMID:Ruiz-Perez 2009:19876929}, {PMID:Ruiz-Perez 2000:10700184}, {DOI:Ruiz-Perez 2000:10.1038/73508}"	""	""	"variant re-classified in 2009; no variant 2nd allele identified"	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000675131"	"0"	"10"	"4"	"5721021"	"5721021"	"subst"	"0.110035"	"00006"	"EVC_000080"	"g.5721021A>C"	""	"{PMID:Ruiz-Perez 2000:10700184}, {DOI:Ruiz-Perez 2000:10.1038/73508}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000675132"	"0"	"10"	"4"	"5743512"	"5743512"	"subst"	"0.796736"	"00006"	"EVC_000007"	"g.5743512T>C"	""	"{PMID:Ruiz-Perez 2000:10700184}, {DOI:Ruiz-Perez 2000:10.1038/73508}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000675133"	"0"	"10"	"4"	"5754671"	"5754671"	"subst"	"4.8819E-5"	"00006"	"EVC_000081"	"g.5754671G>A"	""	"{PMID:Ruiz-Perez 2000:10700184}, {DOI:Ruiz-Perez 2000:10.1038/73508}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000675134"	"0"	"10"	"4"	"5755542"	"5755542"	"subst"	"0.790113"	"00006"	"EVC_000014"	"g.5755542C>A"	""	"{PMID:Ruiz-Perez 2000:10700184}, {DOI:Ruiz-Perez 2000:10.1038/73508}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000675135"	"0"	"10"	"4"	"5785442"	"5785442"	"subst"	"0.348647"	"00006"	"EVC_000017"	"g.5785442G>A"	""	"{PMID:Ruiz-Perez 2000:10700184}, {DOI:Ruiz-Perez 2000:10.1038/73508}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000675136"	"0"	"10"	"4"	"5800494"	"5800494"	"subst"	"0.0250226"	"00006"	"EVC_000022"	"g.5800494G>A"	""	"{PMID:Ruiz-Perez 2000:10700184}, {DOI:Ruiz-Perez 2000:10.1038/73508}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000675137"	"0"	"10"	"4"	"5812141"	"5812141"	"subst"	"0"	"00006"	"EVC_000082"	"g.5812141A>G"	""	"{PMID:Ruiz-Perez 2000:10700184}, {DOI:Ruiz-Perez 2000:10.1038/73508}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000675138"	"21"	"70"	"4"	"5755505"	"5755505"	"subst"	"4.06088E-6"	"03745"	"EVC_000086"	"g.5755505A>G"	""	""	""	""	""	"Germline"	"yes"	"rs896913430"	"0"	""	""	""	""	"VUS"	"ACMG"
"0000675141"	"11"	"90"	"4"	"5795422"	"5795422"	"subst"	"0"	"03745"	"EVC_000085"	"g.5795422C>T"	""	""	""	""	""	"Germline"	"yes"	"rs1329006994"	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000675142"	"11"	"10"	"4"	"5795383"	"5795383"	"subst"	"0"	"03745"	"EVC_000083"	"g.5795383C>T"	""	""	""	""	""	"Germline"	"yes"	"rs748220728"	"0"	""	""	""	""	"likely benign"	"ACMG"
"0000675143"	"11"	"10"	"4"	"5755524"	"5755524"	"subst"	"0.0171529"	"03745"	"EVC_000051"	"g.5755524G>A"	""	""	""	""	""	"Germline"	"yes"	"rs35953626"	"0"	""	""	""	"{CV:5342}"	"benign"	"ACMG"
"0000675165"	"1"	"90"	"4"	"5795422"	"5795422"	"subst"	"0"	"00006"	"EVC_000085"	"g.5795422C>T"	""	"{PMID:Rudnik-Schöneborn 2011:22190900}, {DOI:Rudnik-Schöneborn 2011:10.1159/000331338}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000675166"	"2"	"90"	"4"	"5713122"	"5713123"	"ins"	"0"	"00006"	"EVC_000087"	"g.5713122_5713123insN[46]"	""	"{PMID:Rudnik-Schöneborn 2011:22190900}, {DOI:Rudnik-Schöneborn 2011:10.1159/000331338}"	""	"15_16ins46bp"	"ins46 not specified"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000677294"	"0"	"30"	"4"	"5710149"	"5710149"	"subst"	"0.00125443"	"01804"	"EVC_000088"	"g.5710149A>G"	""	""	""	"EVC2(NM_001166136.1):c.-13+407T>C (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000677295"	"0"	"30"	"4"	"5721084"	"5721084"	"subst"	"0.00608314"	"01943"	"EVC_000003"	"g.5721084A>G"	""	""	""	"EVC(NM_001306090.1):c.284A>G (p.(Asp95Gly)), EVC(NM_153717.2):c.284A>G (p.D95G), EVC(NM_153717.3):c.284A>G (p.D95G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000677296"	"0"	"30"	"4"	"5785303"	"5785303"	"subst"	"8.12671E-6"	"01804"	"EVC_000089"	"g.5785303A>G"	""	""	""	"EVC(NM_153717.2):c.1588A>G (p.(Thr530Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000677297"	"0"	"30"	"4"	"5800513"	"5800513"	"subst"	"0.000201713"	"01943"	"EVC_000090"	"g.5800513C>T"	""	""	""	"EVC(NM_153717.2):c.2298C>T (p.D766=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000689316"	"0"	"90"	"4"	"5747002"	"5747002"	"dup"	"0"	"01943"	"EVC_000067"	"g.5747002dup"	""	""	""	"EVC(NM_153717.2):c.873dupT (p.(Glu292fs)), EVC(NM_153717.2):c.873dupT (p.E292*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000689319"	"0"	"30"	"4"	"5798824"	"5798824"	"subst"	"3.26784E-5"	"01943"	"EVC_000091"	"g.5798824C>T"	""	""	""	"EVC(NM_153717.2):c.1962C>T (p.N654=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000710724"	"3"	"90"	"4"	"5743510"	"5743510"	"subst"	"0"	"00006"	"EVC_000092"	"g.5743510T>A"	""	"{PMID:Sund 2009:19251731}"	""	"770T>A (L257X)"	"variant reported DNA/protein conflicting"	"Germline"	""	""	"0"	""	""	"g.5741783T>A"	""	"pathogenic (!)"	""
"0000710725"	"3"	"90"	"4"	"5798744"	"5798766"	"del"	"0"	"00006"	"EVC_000137"	"g.5798744_5798766del"	""	"{PMID:Sund 2009:19251731}"	""	"Del_IVS13 (−9 to +14)"	""	"Germline"	""	""	"0"	""	""	"g.5797017_5797039del"	""	"pathogenic (recessive)"	""
"0000710729"	"3"	"90"	"4"	"5173174"	"5780706"	"del"	"0"	"00006"	"EVC_000093"	"g.5173174_5780706del"	""	"{PMID:Temtamy 2008:18454448}"	""	""	"STK32B-EVC fusion gene and deletion C4orf6 and EVC2"	"Germline"	""	""	"0"	""	""	"g.5171447_5778979del"	""	"pathogenic (recessive)"	""
"0000710730"	"11"	"90"	"4"	"5750034"	"5750034"	"subst"	"0"	"00006"	"EVC_000095"	"g.5750034G>A"	""	"{PMID:Temtamy 2008:18454448}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.5748307G>A"	""	"pathogenic (recessive)"	""
"0000710731"	"3"	"90"	"4"	"5749953"	"5749953"	"subst"	"1.2182E-5"	"00006"	"EVC_000071"	"g.5749953C>T"	""	"{PMID:Tompson 2007:17024374}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.5748226C>T"	""	"pathogenic (recessive)"	""
"0000710732"	"3"	"90"	"4"	"5785409"	"5785409"	"del"	"5.27953E-5"	"00006"	"EVC_000098"	"g.5785409del"	""	"{PMID:Tompson 2007:17024374}"	""	"1694delC"	""	"Germline"	""	""	"0"	""	""	"g.5783682del"	""	"pathogenic (recessive)"	""
"0000710733"	"3"	"90"	"4"	"5713282"	"5713282"	"subst"	"0"	"00006"	"EVC_000105"	"g.5713282G>A"	""	"{PMID:Tompson 2007:17024374}"	""	"IVSI + 1G > A"	""	"Germline"	""	""	"0"	""	""	"g.5711555G>A"	""	"pathogenic (recessive)"	""
"0000710734"	"3"	"90"	"4"	"5795333"	"5795333"	"subst"	"0"	"00006"	"EVC_000131"	"g.5795333A>G"	""	"{PMID:Tompson 2007:17024374}"	""	"IVS12-2A > G"	""	"Germline"	""	""	"0"	""	""	"g.5793606A>G"	""	"pathogenic (recessive)"	""
"0000710735"	"3"	"90"	"4"	"5795371"	"5795371"	"subst"	"0"	"00006"	"EVC_000100"	"g.5795371C>T"	""	"{PMID:Tompson 2007:17024374}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.5793644C>T"	""	"pathogenic (recessive)"	""
"0000710736"	"1"	"90"	"4"	"5798950"	"5798951"	"dup"	"0"	"00006"	"EVC_000138"	"g.5798950_5798951dup"	""	"{PMID:Tompson 2007:17024374}"	""	"2089insCA"	""	"Germline"	""	""	"0"	""	""	"g.5797223_5797224dup"	""	"pathogenic (recessive)"	""
"0000710737"	"3"	"90"	"4"	"5747033"	"5747035"	"del"	"0"	"00006"	"EVC_000076"	"g.5747033_5747035del"	""	"{PMID:Tompson 2007:17024374}"	""	"904_906delAAG"	""	"Germline"	""	""	"0"	""	""	"g.5745306_5745308del"	""	"pathogenic (recessive)"	""
"0000710738"	"3"	"90"	"4"	"5800492"	"5800495"	"dup"	"0"	"00006"	"EVC_000140"	"g.5800492_5800495dup"	""	"{PMID:Tompson 2007:17024374}"	""	"2277insCCGG"	""	"Germline"	""	""	"0"	""	""	"g.5798765_5798768dup"	""	"pathogenic (recessive)"	""
"0000710739"	"3"	"90"	"4"	"5800521"	"5800521"	"subst"	"0"	"00006"	"EVC_000141"	"g.5800521T>G"	""	"{PMID:Tompson 2007:17024374}"	""	"IVS15 + 2T > G"	""	"Germline"	""	""	"0"	""	""	"g.5798794T>G"	""	"pathogenic (recessive)"	""
"0000710740"	"3"	"90"	"4"	"5810054"	"5810054"	"subst"	"0"	"00006"	"EVC_000142"	"g.5810054G>C"	""	"{PMID:Tompson 2007:17024374}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.5808327G>C"	""	"pathogenic (recessive)"	""
"0000710741"	"3"	"90"	"4"	"5731122"	"5731123"	"delins"	"0"	"00006"	"EVC_000110"	"g.5731122_5731123delinsAC"	""	"{PMID:Tompson 2007:17024374}"	""	"384 + 5_6GA>AC"	""	"Germline"	""	""	"0"	""	""	"g.5729395_5729396delinsAC"	""	"pathogenic (recessive)"	""
"0000710742"	"3"	"90"	"4"	"5743442"	"5743442"	"subst"	"0"	"00006"	"EVC_000114"	"g.5743442G>C"	""	"{PMID:Tompson 2007:17024374}"	""	"IVS5-1G > C"	""	"Germline"	""	""	"0"	""	""	"g.5741715G>C"	""	"pathogenic (recessive)"	""
"0000710743"	"3"	"90"	"4"	"5747002"	"5747002"	"dup"	"0"	"00006"	"EVC_000067"	"g.5747002dup"	""	"{PMID:Tompson 2007:17024374}"	""	"873insT"	""	"Germline"	""	""	"0"	""	""	"g.5745275dup"	""	"pathogenic (recessive)"	""
"0000710744"	"3"	"90"	"4"	"5747002"	"5747002"	"dup"	"0"	"00006"	"EVC_000067"	"g.5747002dup"	""	"{PMID:Tompson 2007:17024374}"	""	"873insT"	""	"Germline"	""	""	"0"	""	""	"g.5745275dup"	""	"pathogenic (recessive)"	""
"0000710745"	"3"	"90"	"4"	"5747039"	"5747039"	"dup"	"0"	"00006"	"EVC_000077"	"g.5747039dup"	""	"{PMID:Tompson 2007:17024374}"	""	"910insA"	""	"Germline"	""	""	"0"	""	""	"g.5745312dup"	""	"pathogenic (recessive)"	""
"0000710746"	"1"	"90"	"4"	"5747048"	"5747048"	"subst"	"4.87322E-5"	"00006"	"EVC_000073"	"g.5747048T>C"	""	"{PMID:Tompson 2007:17024374}"	""	"919C>T (Ser307Pro)"	""	"Germline"	""	""	"0"	""	""	"g.5745321T>C"	""	"pathogenic (recessive)"	""
"0000710747"	"3"	"90"	"4"	"5747048"	"5747048"	"subst"	"4.87322E-5"	"00006"	"EVC_000073"	"g.5747048T>C"	""	"{PMID:Tompson 2007:17024374}"	""	"919C>T (Ser307Pro)"	""	"Germline"	""	""	"0"	""	""	"g.5745321T>C"	""	"pathogenic (recessive)"	""
"0000710748"	"1"	"90"	"4"	"5755511"	"5816031"	"del"	"0"	"00006"	"EVC_000096"	"g.(5754780_5755511)_(5816031_?)del"	""	"{PMID:Tompson 2007:17024374}"	""	"ex10_21del"	""	"Germline"	""	""	"0"	""	""	"g.(5753053_5753784)_(5814304_?)del"	""	"pathogenic (recessive)"	""
"0000710749"	"3"	"90"	"4"	"5795449"	"5795449"	"subst"	"6.78316E-6"	"00006"	"EVC_000075"	"g.5795449G>T"	""	"{PMID:Tompson 2007:17024374}"	""	"IVS13 + 5G > T"	""	"Germline"	""	""	"0"	""	""	"g.5793722G>T"	""	"pathogenic (recessive)"	""
"0000710750"	"3"	"90"	"4"	"5810001"	"5810001"	"subst"	"1.21916E-5"	"00006"	"EVC_000078"	"g.5810001C>T"	""	"{PMID:Tompson 2007:17024374}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.5808274C>T"	""	"pathogenic (recessive)"	""
"0000710751"	"3"	"90"	"4"	"5795449"	"5795449"	"subst"	"6.78316E-6"	"00006"	"EVC_000075"	"g.5795449G>T"	""	"{PMID:Tompson 2007:17024374}"	""	"IVS13 + 5G > T"	""	"Germline"	""	""	"0"	""	""	"g.5793722G>T"	""	"pathogenic (recessive)"	""
"0000710752"	"3"	"90"	"4"	"5795426"	"5795426"	"subst"	"6.71105E-6"	"00006"	"EVC_000135"	"g.5795426T>C"	""	"{PMID:Ulucan 2008:18947413}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.5793699T>C"	""	"pathogenic (recessive)"	""
"0000710789"	"21"	"90"	"4"	"5174225"	"5765817"	"del"	"0"	"00006"	"EVC_000094"	"g.5174225_5765817del"	""	"{PMID:Temtamy 2008:18454448}"	""	""	"STK32B-EVC fusion gene and deletion C4orf6 and EVC2"	"Germline"	""	""	"0"	""	""	"g.5172498_5764090del"	""	"pathogenic (recessive)"	""
"0000710790"	"2"	"90"	"4"	"5785409"	"5785409"	"del"	"5.27953E-5"	"00006"	"EVC_000098"	"g.5785409del"	""	"{PMID:Tompson 2007:17024374}"	""	"1694delC"	""	"Germline"	""	""	"0"	""	""	"g.5783682del"	""	"pathogenic (recessive)"	""
"0000710791"	"2"	"90"	"4"	"5785409"	"5785409"	"del"	"5.27953E-5"	"00006"	"EVC_000098"	"g.5785409del"	""	"{PMID:Tompson 2007:17024374}"	""	"1694delC"	""	"Germline"	""	""	"0"	""	""	"g.5783682del"	""	"pathogenic (recessive)"	""
"0000710792"	"2"	"90"	"4"	"5800415"	"5800415"	"subst"	"0"	"00006"	"EVC_000139"	"g.5800415C>T"	""	"{PMID:Tompson 2007:17024374}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.5798688C>T"	""	"pathogenic (recessive)"	""
"0000710904"	"1"	"90"	"4"	"5785409"	"5785409"	"del"	"5.27953E-5"	"00006"	"EVC_000098"	"g.5785409del"	""	"{PMID:D\'Asdia 2013:23220543}"	""	"1694delC"	"undefined intragenic duplication 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.5783682del"	""	"pathogenic (recessive)"	""
"0000710905"	"3"	"90"	"4"	"5735076"	"5735076"	"subst"	"0"	"00006"	"EVC_000111"	"g.5735076A>G"	""	"{PMID:D\'Asdia 2013:23220543}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.5733349A>G"	""	"pathogenic (recessive)"	""
"0000710906"	"1"	"90"	"4"	"5755569"	"5755569"	"del"	"0"	"00006"	"EVC_000127"	"g.5755569del"	""	"{PMID:D\'Asdia 2013:23220543}"	""	"1373delG"	""	"Germline"	""	""	"0"	""	""	"g.5753842del"	""	"pathogenic (recessive)"	""
"0000710907"	"3"	"90"	"4"	"5795449"	"5795449"	"subst"	"6.78316E-6"	"00006"	"EVC_000136"	"g.5795449G>A"	""	"{PMID:D\'Asdia 2013:23220543}"	""	""	"effect on RNA splicing predicted based on mini-gene expression splicing assay"	"Germline"	""	""	"0"	""	""	"g.5793722G>A"	""	"pathogenic (recessive)"	""
"0000710908"	"3"	"90"	"4"	"5735077"	"5735077"	"subst"	"0"	"00006"	"EVC_000112"	"g.5735077G>T"	""	"{PMID:D\'Asdia 2013:23220543}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.5733350G>T"	""	"pathogenic (recessive)"	""
"0000710909"	"1"	"90"	"4"	"5743542"	"5743542"	"subst"	"4.09453E-6"	"00006"	"EVC_000117"	"g.5743542G>T"	""	"{PMID:D\'Asdia 2013:23220543}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.5741815G>T"	""	"pathogenic (recessive)"	""
"0000710910"	"1"	"90"	"4"	"5743492"	"5743492"	"dup"	"0"	"00006"	"EVC_000116"	"g.5743492dup"	""	"{PMID:D\'Asdia 2013:23220543}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.5741765dup"	""	"pathogenic (recessive)"	""
"0000710911"	"1"	"90"	"4"	"5795334"	"5795334"	"subst"	"6.7151E-6"	"00006"	"EVC_000132"	"g.5795334G>A"	""	"{PMID:D\'Asdia 2013:23220543}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.5793607G>A"	""	"pathogenic (recessive)"	""
"0000710912"	"1"	"90"	"4"	"5749991"	"5749994"	"dup"	"0"	"00006"	"EVC_000121"	"g.5749991_5749994dup"	""	"{PMID:D\'Asdia 2013:23220543}"	""	"1056_1059dupAGCC"	""	"Germline"	""	""	"0"	""	""	"g.5748264_5748267dup"	""	"pathogenic (recessive)"	""
"0000710913"	"3"	"90"	"4"	"5749991"	"5749994"	"dup"	"0"	"00006"	"EVC_000121"	"g.5749991_5749994dup"	""	"{PMID:D\'Asdia 2013:23220543}"	""	"1056_1059dupAGCC"	""	"Germline"	""	""	"0"	""	""	"g.5748264_5748267dup"	""	"pathogenic (recessive)"	""
"0000710914"	"1"	"90"	"4"	"5720986"	"5720987"	"del"	"0"	"00006"	"EVC_000107"	"g.5720986_5720987del"	""	"{PMID:D\'Asdia 2013:23220543}"	""	"185_186delCT"	""	"Germline"	""	""	"0"	""	""	"g.5719259_5719260del"	""	"pathogenic (recessive)"	""
"0000710915"	"3"	"90"	"4"	"5749971"	"5749972"	"del"	"0"	"00006"	"EVC_000120"	"g.5749971_5749972del"	""	"{PMID:D\'Asdia 2013:23220543}"	""	"1036_1037delCT"	""	"Germline"	""	""	"0"	""	""	"g.5748244_5748245del"	""	"pathogenic (recessive)"	""
"0000710916"	"1"	"90"	"4"	"5746958"	"5746958"	"subst"	"4.06147E-6"	"00006"	"EVC_000118"	"g.5746958C>T"	""	"{PMID:D\'Asdia 2013:23220543}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.5745231C>T"	""	"pathogenic (recessive)"	""
"0000710917"	"3"	"90"	"4"	"5731097"	"5731097"	"subst"	"4.06081E-6"	"00006"	"EVC_000001"	"g.5731097C>T"	""	"{PMID:D\'Asdia 2013:23220543}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.5729370C>T"	""	"pathogenic (recessive)"	""
"0000710918"	"3"	"90"	"4"	"5795449"	"5795449"	"subst"	"6.78316E-6"	"00006"	"EVC_000136"	"g.5795449G>A"	""	"{PMID:D\'Asdia 2013:23220543}"	""	""	"effect on RNA splicing predicted based on mini-gene expression splicing assay"	"Germline"	""	""	"0"	""	""	"g.5793722G>A"	""	"pathogenic (recessive)"	""
"0000710919"	"1"	"90"	"4"	"5785409"	"5785409"	"del"	"5.27953E-5"	"00006"	"EVC_000098"	"g.5785409del"	""	"{PMID:D\'Asdia 2013:23220543}"	""	"1694delC"	""	"Germline"	""	""	"0"	""	""	"g.5783682del"	""	"pathogenic (recessive)"	""
"0000710920"	"1"	"90"	"4"	"5785409"	"5785409"	"del"	"5.27953E-5"	"00006"	"EVC_000098"	"g.5785409del"	""	"{PMID:D\'Asdia 2013:23220543}"	""	"1694delC"	""	"Germline"	""	""	"0"	""	""	"g.5783682del"	""	"pathogenic (recessive)"	""
"0000710921"	"1"	"90"	"4"	"5731033"	"5758090"	"del"	"0"	"00006"	"EVC_000097"	"g.(5721101_5731033)_(5758090_5785278)del"	""	"{PMID:D\'Asdia 2013:23220543}"	""	"301-?_1563+?del, hg18 5782048_5804013del"	""	"Germline"	""	""	"0"	""	""	"g.(5719374_5729306)_(5756363_5783551)del"	""	"pathogenic (recessive)"	""
"0000710922"	"3"	"90"	"4"	"5747033"	"5747035"	"del"	"0"	"00006"	"EVC_000076"	"g.5747033_5747035del"	""	"{PMID:D\'Asdia 2013:23220543}"	""	"904_906delAAG"	""	"Germline"	""	""	"0"	""	""	"g.5745306_5745308del"	""	"pathogenic (recessive)"	""
"0000710923"	"1"	"90"	"4"	"5735095"	"5735095"	"del"	"0"	"00006"	"EVC_000113"	"g.5735095del"	""	"{PMID:D\'Asdia 2013:23220543}"	""	"635delG"	""	"Germline"	""	""	"0"	""	""	"g.5733368del"	""	"pathogenic (recessive)"	""
"0000710934"	"2"	"90"	"4"	"5785409"	"5785409"	"del"	"5.27953E-5"	"00006"	"EVC_000098"	"g.5785409del"	""	"{PMID:D\'Asdia 2013:23220543}"	""	"1694delC"	""	"Germline"	""	""	"0"	""	""	"g.5783682del"	""	"pathogenic (recessive)"	""
"0000710935"	"2"	"90"	"4"	"5747048"	"5747048"	"subst"	"4.87322E-5"	"00006"	"EVC_000073"	"g.5747048T>C"	""	"{PMID:D\'Asdia 2013:23220543}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.5745321T>C"	""	"pathogenic (recessive)"	""
"0000710936"	"2"	"90"	"4"	"5795449"	"5795449"	"subst"	"6.78316E-6"	"00006"	"EVC_000075"	"g.5795449G>T"	""	"{PMID:D\'Asdia 2013:23220543}"	""	""	"effect on RNA splicing predicted based on mini-gene expression splicing assay"	"Germline"	""	""	"0"	""	""	"g.5793722G>T"	""	"pathogenic (recessive)"	""
"0000710937"	"2"	"90"	"4"	"5733384"	"5733384"	"subst"	"0"	"00006"	"EVC_000099"	"g.5733384G>A"	""	"{PMID:D\'Asdia 2013:23220543}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.5731657G>A"	""	"pathogenic (recessive)"	""
"0000710938"	"2"	"90"	"4"	"5795341"	"5795484"	"del"	"0"	"00006"	"EVC_000133"	"g.5795341_5795484del"	""	"{PMID:D\'Asdia 2013:23220543}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.5793614_5793757del"	""	"pathogenic (recessive)"	""
"0000710939"	"2"	"90"	"4"	"5747048"	"5747048"	"subst"	"4.87322E-5"	"00006"	"EVC_000073"	"g.5747048T>C"	""	"{PMID:D\'Asdia 2013:23220543}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.5745321T>C"	""	"pathogenic (recessive)"	""
"0000710940"	"2"	"90"	"4"	"5812180"	"5812180"	"subst"	"8.68448E-6"	"00006"	"EVC_000143"	"g.5812180A>G"	""	"{PMID:D\'Asdia 2013:23220543}"	""	""	"effect on RNA splicing predicted based on mini-gene expression splicing assay"	"Germline"	""	""	"0"	""	""	"g.5810453A>G"	""	"pathogenic (recessive)"	""
"0000710941"	"2"	"90"	"4"	"5812180"	"5812180"	"subst"	"8.68448E-6"	"00006"	"EVC_000143"	"g.5812180A>G"	""	"{PMID:D\'Asdia 2013:23220543}"	""	""	"effect on RNA splicing predicted based on mini-gene expression splicing assay"	"Germline"	""	""	"0"	""	""	"g.5810453A>G"	""	"pathogenic (recessive)"	""
"0000710942"	"2"	"90"	"4"	"5758027"	"5758027"	"subst"	"0"	"00006"	"EVC_000128"	"g.5758027C>T"	""	"{PMID:D\'Asdia 2013:23220543}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.5756300C>T"	""	"pathogenic (recessive)"	""
"0000710943"	"2"	"90"	"4"	"5747057"	"5747057"	"subst"	"1.62443E-5"	"00006"	"EVC_000119"	"g.5747057C>G"	""	"{PMID:D\'Asdia 2013:23220543}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.5745330C>G"	""	"pathogenic (recessive)"	""
"0000710944"	"2"	"90"	"4"	"5795341"	"5795484"	"del"	"0"	"00006"	"EVC_000133"	"g.5795341_5795484del"	""	"{PMID:D\'Asdia 2013:23220543}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.5793614_5793757del"	""	"pathogenic (recessive)"	""
"0000710949"	"3"	"90"	"4"	"5733384"	"5733384"	"subst"	"0"	"00006"	"EVC_000099"	"g.5733384G>A"	""	"{PMID:Umm-e-Kalsoom 2009:19744229}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000710951"	"3"	"90"	"4"	"5795371"	"5795371"	"subst"	"0"	"00006"	"EVC_000100"	"g.5795371C>T"	""	"{PMID:Ali 2010:20184732}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000710955"	"3"	"90"	"4"	"5713109"	"5713109"	"subst"	"0"	"00006"	"EVC_000104"	"g.5713109T>A"	""	"{PMID:Valencia 2009:19810119}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.5711382T>A"	""	"pathogenic (recessive)"	""
"0000710956"	"3"	"90"	"4"	"5720973"	"5720973"	"subst"	"2.03052E-5"	"00006"	"EVC_000106"	"g.5720973A>G"	""	"{PMID:Valencia 2009:19810119}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.5719246A>G"	""	"pathogenic (recessive)"	""
"0000710957"	"1"	"90"	"4"	"5721003"	"5721003"	"del"	"0"	"00006"	"EVC_000108"	"g.5721003del"	""	"{PMID:Valencia 2009:19810119}"	""	"203delA"	""	"Germline"	""	""	"0"	""	""	"g.5719276del"	""	"pathogenic (recessive)"	""
"0000710958"	"1"	"90"	"4"	"5731096"	"5731096"	"subst"	"4.06081E-6"	"00006"	"EVC_000109"	"g.5731096C>A"	""	"{PMID:Valencia 2009:19810119}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.5729369C>A"	""	"pathogenic (recessive)"	""
"0000710959"	"3"	"90"	"4"	"5743448"	"5743448"	"dup"	"0"	"00006"	"EVC_000115"	"g.5743448dup"	""	"{PMID:Valencia 2009:19810119}"	""	"708dupT"	""	"Germline"	""	""	"0"	""	""	"g.5741721dup"	""	"pathogenic (recessive)"	""
"0000710960"	"1"	"90"	"4"	"5747002"	"5747002"	"dup"	"0"	"00006"	"EVC_000067"	"g.5747002dup"	""	"{PMID:Valencia 2009:19810119}"	""	"873dupT"	""	"Germline"	""	""	"0"	""	""	"g.5745275dup"	""	"pathogenic (recessive)"	""
"0000710961"	"3"	"90"	"4"	"5747033"	"5747035"	"del"	"0"	"00006"	"EVC_000076"	"g.5747033_5747035del"	""	"{PMID:Valencia 2009:19810119}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.5745306_5745308del"	""	"pathogenic (recessive)"	""
"0000710962"	"11"	"90"	"4"	"5749725"	"5749725"	"subst"	"0"	"00006"	"EVC_000103"	"g.5749725T>G"	""	"{PMID:Valencia 2009:19810119}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.5747998T>G"	""	"pathogenic (recessive)"	""
"0000710963"	"3"	"90"	"4"	"5749953"	"5749953"	"subst"	"1.2182E-5"	"00006"	"EVC_000071"	"g.5749953C>T"	""	"{PMID:Valencia 2009:19810119}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.5748226C>T"	""	"pathogenic (recessive)"	""
"0000710964"	"3"	"90"	"4"	"5749953"	"5749953"	"subst"	"1.2182E-5"	"00006"	"EVC_000071"	"g.5749953C>T"	""	"{PMID:Valencia 2009:19810119}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.5748226C>T"	""	"pathogenic (recessive)"	""
"0000710965"	"3"	"90"	"4"	"5754681"	"5754681"	"del"	"0"	"00006"	"EVC_000124"	"g.5754681del"	""	"{PMID:Valencia 2009:19810119}"	""	"1217delT"	""	"Germline"	""	""	"0"	""	""	"g.5752954del"	""	"pathogenic (recessive)"	""
"0000710966"	"3"	"90"	"4"	"5754719"	"5754719"	"subst"	"0"	"00006"	"EVC_000125"	"g.5754719G>T"	""	"{PMID:Valencia 2009:19810119}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.5752992G>T"	""	"pathogenic (recessive)"	""
"0000710967"	"3"	"90"	"4"	"5754733"	"5754742"	"del"	"0"	"00006"	"EVC_000126"	"g.5754733_5754742del"	""	"{PMID:Valencia 2009:19810119}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.5753006_5753015del"	""	"pathogenic (recessive)"	""
"0000710968"	"3"	"90"	"4"	"5758090"	"5758090"	"subst"	"0"	"00006"	"EVC_000129"	"g.5758090G>C"	""	"{PMID:Valencia 2009:19810119}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.5756363G>C"	""	"pathogenic (recessive)"	""
"0000710969"	"3"	"90"	"4"	"5795416"	"5795436"	"del"	"0"	"00006"	"EVC_000134"	"g.5795416_5795436del"	""	"{PMID:Valencia 2009:19810119}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.5793689_5793709del"	""	"pathogenic (recessive)"	""
"0000710970"	"3"	"90"	"4"	"5795416"	"5795436"	"del"	"0"	"00006"	"EVC_000134"	"g.5795416_5795436del"	""	"{PMID:Valencia 2009:19810119}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.5793689_5793709del"	""	"pathogenic (recessive)"	""
"0000710971"	"3"	"90"	"4"	"5795426"	"5795426"	"subst"	"6.71105E-6"	"00006"	"EVC_000135"	"g.5795426T>C"	""	"{PMID:Valencia 2009:19810119}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.5793699T>C"	""	"pathogenic (recessive)"	""
"0000710972"	"3"	"90"	"4"	"5803716"	"5803717"	"del"	"0"	"00006"	"EVC_000101"	"g.5803716_5803717del"	""	"{PMID:Valencia 2009:19810119}"	""	"[2344_2345del;2357_2370del]"	""	"Germline"	""	""	"0"	""	""	"g.5801989_5801990del"	""	"pathogenic (recessive)"	""
"0000710998"	"2"	"90"	"4"	"5754578"	"5754586"	"del"	"0"	"00006"	"EVC_000123"	"g.5754578_5754586del"	""	"{PMID:Valencia 2009:19810119}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.5752851_5752859del"	""	"pathogenic (recessive)"	""
"0000710999"	"2"	"90"	"4"	"5785393"	"5785393"	"subst"	"4.06108E-6"	"00006"	"EVC_000130"	"g.5785393G>T"	""	"{PMID:Valencia 2009:19810119}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.5783666G>T"	""	"pathogenic (recessive)"	""
"0000711000"	"2"	"90"	"4"	"5749995"	"5749995"	"subst"	"4.06101E-6"	"00006"	"EVC_000122"	"g.5749995G>T"	""	"{PMID:Valencia 2009:19810119}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.5748268G>T"	""	"pathogenic (recessive)"	""
"0000711001"	"21"	"90"	"4"	"5750034"	"5750034"	"subst"	"0"	"00006"	"EVC_000095"	"g.5750034G>A"	""	"{PMID:Valencia 2009:19810119}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.5748307G>A"	""	"pathogenic (recessive)"	""
"0000711002"	"3"	"90"	"4"	"5803729"	"5803742"	"del"	"0"	"00006"	"EVC_000102"	"g.5803729_5803742del"	""	"{PMID:Valencia 2009:19810119}"	""	"[2344_2345del;2357_2370del]"	""	"Germline"	""	""	"0"	""	""	"g.5802002_5802015del"	""	"pathogenic (recessive)"	""
"0000711003"	"11"	"10"	"4"	"5750003"	"5750003"	"subst"	"0.297388"	"00006"	"EVC_000031"	"g.5750003A>G"	""	"{PMID:Valencia 2009:19810119}"	""	""	""	"Germline"	""	"rs33929747"	"0"	""	""	""	""	"benign"	""
"0000719932"	"0"	"90"	"4"	"5710046"	"5710050"	"dup"	"0"	"01943"	"EVC2_000133"	"g.5710046_5710050dup"	""	""	""	"EVC2(NM_147127.4):c.194_198dupGGCGG (p.S67Gfs*17)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000719933"	"0"	"30"	"4"	"5710065"	"5710065"	"subst"	"0"	"01804"	"EVC_000144"	"g.5710065C>G"	""	""	""	"EVC2(NM_147127.4):c.176G>C (p.(Gly59Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000719934"	"0"	"30"	"4"	"5713212"	"5713212"	"subst"	"0"	"01943"	"EVC_000145"	"g.5713212C>A"	""	""	""	"EVC(NM_153717.2):c.105C>A (p.G35=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000719935"	"0"	"30"	"4"	"5733202"	"5733202"	"subst"	"0"	"01943"	"EVC_000146"	"g.5733202G>A"	""	""	""	"EVC(NM_153717.2):c.435G>A (p.Q145=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000719936"	"0"	"50"	"4"	"5733336"	"5733336"	"subst"	"0.00021561"	"01943"	"EVC_000147"	"g.5733336G>T"	""	""	""	"EVC(NM_153717.2):c.569G>T (p.R190L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000719938"	"0"	"30"	"4"	"5747063"	"5747063"	"subst"	"0.00204289"	"01943"	"EVC_000044"	"g.5747063G>A"	""	""	""	"EVC(NM_153717.2):c.934G>A (p.D312N, p.(Asp312Asn)), EVC(NM_153717.3):c.934G>A (p.D312N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000719939"	"0"	"30"	"4"	"5755624"	"5755624"	"subst"	"0.00147432"	"01804"	"EVC_000148"	"g.5755624G>C"	""	""	""	"EVC(NM_001306090.1):c.1428G>C (p.(Glu476Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000719940"	"0"	"30"	"4"	"5758031"	"5758031"	"subst"	"0"	"01943"	"EVC_000149"	"g.5758031G>A"	""	""	""	"EVC(NM_153717.2):c.1505G>A (p.C502Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000719943"	"0"	"90"	"4"	"5785409"	"5785409"	"del"	"5.27953E-5"	"02327"	"EVC_000098"	"g.5785409del"	""	""	""	"EVC(NM_153717.3):c.1694delC (p.A565Vfs*23)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000719945"	"0"	"90"	"4"	"5809982"	"5809982"	"dup"	"0"	"02327"	"EVC_000150"	"g.5809982dup"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000729929"	"3"	"90"	"4"	"5713208"	"5713208"	"dup"	"0"	"00000"	"EVC_000027"	"g.5713208dup"	""	"{PMID:Maddirevula 2018:29620724}"	""	"NM_153717.2:c.101dup:p.(Ala36Argfs*37)"	""	"Germline"	""	""	"0"	""	""	"g.5711481dup"	""	"likely pathogenic (recessive)"	""
"0000801665"	"0"	"30"	"4"	"5710119"	"5710119"	"subst"	"0.00361849"	"02326"	"EVC2_000037"	"g.5710119G>T"	""	""	""	"EVC2(NM_147127.4):c.122C>A (p.P41H, p.(Pro41His)), EVC2(NM_147127.5):c.122C>A (p.P41H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000801668"	"0"	"30"	"4"	"5755619"	"5755619"	"subst"	"0"	"01804"	"EVC_000152"	"g.5755619G>A"	""	""	""	"EVC(NM_153717.2):c.1423G>A (p.(Ala475Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000801669"	"0"	"30"	"4"	"5795413"	"5795413"	"subst"	"0.00115825"	"01804"	"EVC_000153"	"g.5795413G>A"	""	""	""	"EVC(NM_153717.2):c.1855G>A (p.(Val619Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000801670"	"0"	"30"	"4"	"5803694"	"5803694"	"subst"	"0.000772182"	"02326"	"EVC_000154"	"g.5803694G>C"	""	""	""	"EVC(NM_153717.3):c.2322G>C (p.A774=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000801671"	"0"	"30"	"4"	"5803833"	"5803833"	"subst"	"0.00080024"	"02326"	"EVC_000155"	"g.5803833C>G"	""	""	""	"EVC(NM_153717.3):c.2449+12C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000818852"	"0"	"90"	"4"	"5758026"	"5758026"	"subst"	"0.000365632"	"00000"	"EVC_000156"	"g.5758026G>A"	""	"{PMID:Zhang-2019:29068549}"	""	"NM_153717.2:c.1500G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000818853"	"0"	"90"	"4"	"5785383"	"5785383"	"subst"	"4.06101E-6"	"00000"	"EVC_000157"	"g.5785383C>G"	""	"{PMID:Zhang-2019:29068549}"	""	"NM_153717.2:c.1668C>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000818854"	"0"	"90"	"4"	"5749953"	"5749953"	"subst"	"1.2182E-5"	"00000"	"EVC_000071"	"g.5749953C>T"	""	"{PMID:Zhang-2019:29068549}"	""	"NM_153717.2:c.1018C>T"	"Variant published before in Valencia 2009; Tompson 2007;  Ruiz-Perez, Ide 2000 as Hom or with c.735delT"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000818855"	"0"	"90"	"4"	"5747033"	"5747035"	"del"	"0"	"00000"	"EVC_000076"	"g.5747033_5747035del"	""	"{PMID:Zhang-2019:29068549}"	""	"NM_153717.2:c.904_906del"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000818856"	"0"	"90"	"4"	"5747033"	"5747035"	"del"	"0"	"00000"	"EVC_000076"	"g.5747033_5747035del"	""	"{PMID:Zhang-2019:29068549}"	""	"NM_153717.2:c.904_906del"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000818857"	"0"	"90"	"4"	"5795449"	"5795449"	"subst"	"6.78316E-6"	"00000"	"EVC_000075"	"g.5795449G>T"	""	"{PMID:Zhang-2019:29068549}"	""	"NM_153717.2:c.1886+5G>T"	"Variant published before in D\'Asdia 2013; Tompson 2007;  Galdzicka, Graham 2003;  Ruiz-Perez 2000 as c.1886+5G>A or Hom or with c.752dup"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000818858"	"0"	"90"	"4"	"5731096"	"5731096"	"subst"	"4.06081E-6"	"00000"	"EVC_000109"	"g.5731096C>A"	""	"{PMID:Zhang-2019:29068549}"	""	"NM_153717.2:c.363C>A"	"variant 2nd chromosome not mentioned; Variant published before in Valencia 2009 with p.E560X"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000850637"	"0"	"30"	"4"	"5733317"	"5733317"	"subst"	"0.00220694"	"02326"	"EVC_000041"	"g.5733317G>A"	""	""	""	"EVC(NM_001306090.1):c.550G>A (p.(Asp184Asn)), EVC(NM_153717.2):c.550G>A (p.D184N), EVC(NM_153717.3):c.550G>A (p.D184N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000850639"	"0"	"50"	"4"	"5747033"	"5747035"	"del"	"0"	"01943"	"EVC_000076"	"g.5747033_5747035del"	""	""	""	"EVC(NM_153717.2):c.904_906delAAG (p.(Lys302del)), EVC(NM_153717.2):c.904_906delAAG (p.K302del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000850640"	"0"	"30"	"4"	"5754733"	"5754733"	"subst"	"0.00059471"	"01943"	"EVC_000158"	"g.5754733G>A"	""	""	""	"EVC(NM_153717.2):c.1269G>A (p.T423=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000859462"	"0"	"10"	"4"	"5747063"	"5747063"	"subst"	"0.00204289"	"02326"	"EVC_000044"	"g.5747063G>A"	""	""	""	"EVC(NM_153717.2):c.934G>A (p.D312N, p.(Asp312Asn)), EVC(NM_153717.3):c.934G>A (p.D312N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000873445"	"0"	"70"	"4"	"5755632"	"5755632"	"subst"	"3.65589E-5"	"00000"	"EVC_000159"	"g.5755632C>T"	"106"	"{PMID:Sun 2018:30076350}"	""	"EVC(NM_153717.2):c.1436C>T(p.P479L)"	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.5753905C>T"	""	"likely pathogenic"	""
"0000877241"	"0"	"50"	"4"	"5721055"	"5721055"	"subst"	"0"	"00006"	"EVC_000160"	"g.5721055G>A"	""	"{PMID:Monroe 2016:26845106}"	""	""	""	"De novo"	""	""	"0"	""	""	""	""	"VUS"	""
"0000886304"	"0"	"90"	"4"	"5710125"	"5710125"	"subst"	"0"	"02327"	"EVC_000161"	"g.5710125C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000886312"	"0"	"30"	"4"	"5754777"	"5754777"	"subst"	"0.000999417"	"01804"	"EVC_000162"	"g.5754777G>A"	""	""	""	"EVC(NM_001306090.1):c.1313G>A (p.(Arg438Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000886313"	"0"	"30"	"4"	"5755565"	"5755565"	"subst"	"0.00208717"	"02326"	"EVC_000052"	"g.5755565G>A"	""	""	""	"EVC(NM_001306090.1):c.1369G>A (p.(Glu457Lys)), EVC(NM_153717.2):c.1369G>A (p.E457K), EVC(NM_153717.3):c.1369G>A (p.E457K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000886316"	"0"	"30"	"4"	"5785366"	"5785366"	"subst"	"0"	"01804"	"EVC_000163"	"g.5785366C>G"	""	""	""	"EVC(NM_153717.2):c.1651C>G (p.(Pro551Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000886317"	"0"	"30"	"4"	"5798857"	"5798857"	"subst"	"0.000546573"	"02326"	"EVC_000164"	"g.5798857G>A"	""	""	""	"EVC(NM_153717.3):c.1995G>A (p.S665=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000886318"	"0"	"50"	"4"	"5812066"	"5812066"	"subst"	"0"	"01804"	"EVC_000165"	"g.5812066A>G"	""	""	""	"EVC(NM_153717.2):c.2783A>G (p.(Glu928Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000912119"	"0"	"50"	"4"	"5733278"	"5733278"	"subst"	"9.34481E-5"	"01804"	"EVC_000166"	"g.5733278G>A"	""	""	""	"EVC(NM_153717.2):c.511G>A (p.(Asp171Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000912120"	"0"	"50"	"4"	"5746964"	"5746966"	"del"	"8.12275E-6"	"01804"	"EVC_000167"	"g.5746964_5746966del"	""	""	""	"EVC(NM_153717.2):c.835_837del (p.(Lys279del))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000912121"	"0"	"50"	"4"	"5747028"	"5747028"	"subst"	"0.00013807"	"01804"	"EVC_000168"	"g.5747028A>C"	""	""	""	"EVC(NM_153717.2):c.899A>C (p.(Glu300Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000912123"	"0"	"50"	"4"	"5800397"	"5800397"	"subst"	"4.3122E-5"	"01804"	"EVC_000169"	"g.5800397G>A"	""	""	""	"EVC(NM_001306090.1):c.2182G>A (p.(Glu728Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000928917"	"0"	"30"	"4"	"5713115"	"5713115"	"subst"	"0"	"02326"	"EVC_000170"	"g.5713115G>C"	""	""	""	"EVC(NM_153717.3):c.8G>C (p.(Arg3Pro), p.R3P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000928920"	"0"	"30"	"4"	"5812155"	"5812155"	"subst"	"0.0022655"	"01804"	"EVC_000171"	"g.5812155G>A"	""	""	""	"EVC(NM_001306090.1):c.2872G>A (p.(Asp958Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000933879"	"21"	"90"	"4"	"5747002"	"5747002"	"dup"	"0"	"04573"	"EVC_000067"	"g.5747002dup"	""	"{DOI:Da Silva 2023:10.1016/j.gimo.2023.100781}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.5745275dup"	""	"pathogenic (recessive)"	"ACMG"
"0000933880"	"11"	"90"	"4"	"5743541"	"5743541"	"del"	"0"	"04573"	"EVC_000028"	"g.5743541del"	""	"{DOI:Da Silva 2023:10.1016/j.gimo.2023.100781}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.5741814del"	""	"pathogenic (recessive)"	"ACMG"
"0000948336"	"0"	"70"	"4"	"5758089"	"5758089"	"subst"	"4.30923E-6"	"02325"	"EVC_000172"	"g.5758089G>C"	""	""	""	"EVC(NM_153717.3):c.1563G>C (p.Q521H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000948337"	"0"	"90"	"4"	"5785409"	"5785409"	"del"	"5.27953E-5"	"02325"	"EVC_000098"	"g.5785409del"	""	""	""	"EVC(NM_153717.3):c.1694delC (p.A565Vfs*23)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000963197"	"0"	"50"	"4"	"5750010"	"5750010"	"subst"	"4.06108E-5"	"02325"	"EVC_000173"	"g.5750010G>A"	""	""	""	"EVC(NM_153717.3):c.1075G>A (p.D359N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000963198"	"0"	"30"	"4"	"5754591"	"5754591"	"subst"	"0.000727601"	"01804"	"EVC_000174"	"g.5754591C>T"	""	""	""	"EVC(NM_153717.2):c.1127C>T (p.(Ala376Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000963202"	"0"	"50"	"4"	"5800442"	"5800442"	"subst"	"5.87229E-5"	"01804"	"EVC_000175"	"g.5800442G>A"	""	""	""	"EVC(NM_001306090.1):c.2227G>A (p.(Ala743Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000976322"	"0"	"30"	"4"	"5713115"	"5713115"	"subst"	"0"	"01804"	"EVC_000170"	"g.5713115G>C"	""	""	""	"EVC(NM_153717.3):c.8G>C (p.(Arg3Pro), p.R3P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000976323"	"0"	"50"	"4"	"5713196"	"5713196"	"subst"	"0"	"02325"	"EVC_000002"	"g.5713196C>T"	""	""	""	"EVC(NM_153717.2):c.89C>T (p.(Pro30Leu)), EVC(NM_153717.3):c.89C>T (p.P30L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000976327"	"0"	"30"	"4"	"5785411"	"5785411"	"subst"	"0.000341139"	"01804"	"EVC_000176"	"g.5785411G>A"	""	""	""	"EVC(NM_153717.2):c.1696G>A (p.(Ala566Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000994357"	"0"	"50"	"4"	"5733354"	"5733354"	"subst"	"0"	"01804"	"EVC_000177"	"g.5733354A>G"	""	""	""	"EVC(NM_153717.2):c.587A>G (p.(Asn196Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000994358"	"0"	"50"	"4"	"5733380"	"5733380"	"subst"	"2.88586E-5"	"01804"	"EVC_000178"	"g.5733380G>A"	""	""	""	"EVC(NM_153717.2):c.613G>A (p.(Glu205Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000994360"	"0"	"30"	"4"	"5735088"	"5735088"	"subst"	"4.06128E-6"	"01804"	"EVC_000179"	"g.5735088G>A"	""	""	""	"EVC(NM_153717.2):c.628G>A (p.(Asp210Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000994361"	"0"	"50"	"4"	"5735142"	"5735142"	"subst"	"4.06151E-6"	"01804"	"EVC_000180"	"g.5735142C>G"	""	""	""	"EVC(NM_153717.2):c.682C>G (p.(Leu228Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000994364"	"0"	"70"	"4"	"5747002"	"5747002"	"dup"	"0"	"01804"	"EVC_000067"	"g.5747002dup"	""	""	""	"EVC(NM_153717.2):c.873dupT (p.(Glu292fs)), EVC(NM_153717.2):c.873dupT (p.E292*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000994365"	"0"	"90"	"4"	"5747033"	"5747035"	"del"	"0"	"01804"	"EVC_000076"	"g.5747033_5747035del"	""	""	""	"EVC(NM_153717.2):c.904_906delAAG (p.(Lys302del)), EVC(NM_153717.2):c.904_906delAAG (p.K302del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000994366"	"0"	"30"	"4"	"5749917"	"5749917"	"subst"	"0.000223332"	"01804"	"EVC_000181"	"g.5749917C>T"	""	""	""	"EVC(NM_153717.2):c.982C>T (p.(Leu328Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000994367"	"0"	"30"	"4"	"5754583"	"5754583"	"subst"	"4.06312E-6"	"01804"	"EVC_000182"	"g.5754583G>A"	""	""	""	"EVC(NM_153717.2):c.1119G>A (p.(Met373Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000994368"	"0"	"30"	"4"	"5754710"	"5754710"	"subst"	"2.87307E-5"	"01804"	"EVC_000183"	"g.5754710C>T"	""	""	""	"EVC(NM_153717.2):c.1246C>T (p.(Arg416Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000994369"	"0"	"50"	"4"	"5758049"	"5758049"	"subst"	"7.01951E-5"	"01804"	"EVC_000184"	"g.5758049A>G"	""	""	""	"EVC(NM_153717.2):c.1523A>G (p.(Glu508Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000994370"	"0"	"50"	"4"	"5798802"	"5798802"	"subst"	"0.000409316"	"01804"	"EVC_000185"	"g.5798802G>A"	""	""	""	"EVC(NM_153717.2):c.1940G>A (p.(Arg647Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000994371"	"0"	"50"	"4"	"5798826"	"5798826"	"subst"	"0"	"01804"	"EVC_000186"	"g.5798826C>T"	""	""	""	"EVC(NM_153717.2):c.1964C>T (p.(Ala655Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001034608"	"0"	"70"	"4"	"5710195"	"5710195"	"dup"	"0"	"01804"	"EVC_000187"	"g.5710195dup"	""	""	""	"EVC2(NM_147127.5):c.50dup (p.(Leu18Serfs*38))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001034609"	"0"	"30"	"4"	"5710223"	"5710223"	"subst"	"0.000178117"	"01804"	"EVC_000188"	"g.5710223G>A"	""	""	""	"EVC2(NM_147127.5):c.18C>T (p.(Ser6=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001034613"	"0"	"10"	"4"	"5743520"	"5743520"	"subst"	"0.00776064"	"01804"	"EVC_000189"	"g.5743520G>A"	""	""	""	"EVC(NM_153717.3):c.780G>A (p.(Lys260=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0001034615"	"0"	"30"	"4"	"5758026"	"5758026"	"subst"	"0.000365632"	"01804"	"EVC_000156"	"g.5758026G>A"	""	""	""	"EVC(NM_153717.3):c.1500G>A (p.(Met500Ile), p.M500I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001034616"	"0"	"50"	"4"	"5759833"	"5759833"	"subst"	"0"	"01804"	"EVC_000190"	"g.5759833C>T"	""	""	""	"EVC(NM_001306092.2):c.1589C>T (p.(Thr530Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001034619"	"0"	"50"	"4"	"5785382"	"5785382"	"subst"	"0"	"01804"	"EVC_000191"	"g.5785382A>T"	""	""	""	"EVC(NM_153717.3):c.1667A>T (p.(Tyr556Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001034621"	"0"	"50"	"4"	"5800359"	"5800359"	"subst"	"0"	"01804"	"EVC_000192"	"g.5800359A>G"	""	""	""	"EVC(NM_153717.3):c.2144A>G (p.(Gln715Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001034622"	"0"	"10"	"4"	"5806512"	"5806512"	"subst"	"0.0151108"	"01804"	"EVC_000193"	"g.5806512G>A"	""	""	""	"EVC(NM_153717.3):c.2505G>A (p.(Ser835=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0001034623"	"0"	"50"	"4"	"5811242"	"5811242"	"subst"	"0"	"01804"	"EVC_000194"	"g.5811242C>T"	""	""	""	"EVC(NM_153717.3):c.2689-3C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001034624"	"0"	"30"	"4"	"5812152"	"5812152"	"subst"	"0.00067887"	"01804"	"EVC_000195"	"g.5812152G>A"	""	""	""	"EVC(NM_153717.3):c.2869G>A (p.(Gly957Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001034625"	"0"	"30"	"4"	"5812672"	"5812676"	"del"	"0"	"01804"	"EVC_000196"	"g.5812672_5812676del"	""	""	""	"EVC(NM_153717.3):c.2895-8_2895-4del"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001034626"	"0"	"50"	"4"	"5812752"	"5812754"	"del"	"0"	"01804"	"EVC_000197"	"g.5812752_5812754del"	""	""	""	"EVC(NM_153717.3):c.2967_2969del (p.(Arg989del))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001045959"	"0"	"50"	"4"	"5733222"	"5733222"	"subst"	"5.28395E-5"	"02325"	"EVC_000198"	"g.5733222C>T"	""	""	""	"EVC(NM_153717.3):c.455C>T (p.P152L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001045960"	"0"	"50"	"4"	"5746952"	"5746952"	"subst"	"0"	"02325"	"EVC_000199"	"g.5746952G>A"	""	""	""	"EVC(NM_153717.3):c.823G>A (p.G275R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001045961"	"0"	"30"	"4"	"5758026"	"5758026"	"subst"	"0.000365632"	"02325"	"EVC_000156"	"g.5758026G>A"	""	""	""	"EVC(NM_153717.3):c.1500G>A (p.(Met500Ile), p.M500I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""


## 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 EVC
## Count = 290
"{{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}}"
"0000089069"	"00007280"	"90"	"364"	"0"	"364"	"0"	"c.364C>T"	"r.(?)"	"p.(Pro122Ser)"	"3"
"0000249053"	"00007280"	"10"	"2894"	"18"	"2894"	"18"	"c.2894+18A>G"	"r.(=)"	"p.(=)"	""
"0000251064"	"00007280"	"10"	"284"	"0"	"284"	"0"	"c.284A>G"	"r.(?)"	"p.(Asp95Gly)"	""
"0000251106"	"00007280"	"10"	"1333"	"0"	"1333"	"0"	"c.1333A>C"	"r.(?)"	"p.(Lys445Gln)"	""
"0000267904"	"00007280"	"10"	"2993"	"0"	"2993"	"0"	"c.*14G>A"	"r.(=)"	"p.(=)"	""
"0000267905"	"00007280"	"10"	"1026"	"0"	"1026"	"0"	"c.1026G>C"	"r.(?)"	"p.(Leu342=)"	""
"0000267906"	"00007280"	"10"	"1346"	"0"	"1346"	"0"	"c.1346C>A"	"r.(?)"	"p.(Thr449Lys)"	""
"0000267907"	"00007280"	"10"	"1727"	"0"	"1727"	"0"	"c.1727G>A"	"r.(?)"	"p.(Arg576Gln)"	""
"0000267908"	"00007280"	"10"	"1854"	"0"	"1854"	"0"	"c.1854C>T"	"r.(?)"	"p.(Gly618=)"	""
"0000267909"	"00007280"	"10"	"2449"	"15"	"2449"	"15"	"c.2449+15del"	"r.(=)"	"p.(=)"	""
"0000267910"	"00007280"	"10"	"769"	"0"	"769"	"0"	"c.769C>T"	"r.(?)"	"p.(Leu257=)"	""
"0000267911"	"00007280"	"10"	"772"	"0"	"772"	"0"	"c.772T>C"	"r.(?)"	"p.(Tyr258His)"	""
"0000267912"	"00007280"	"10"	"939"	"4"	"939"	"4"	"c.939+4C>T"	"r.spl?"	"p.?"	""
"0000267913"	"00007280"	"10"	"969"	"0"	"969"	"0"	"c.969T>C"	"r.(?)"	"p.(Asn323=)"	""
"0000268929"	"00007280"	"90"	"618"	"-1"	"618"	"-1"	"c.618-1G>A"	"r.spl?"	"p.?"	""
"0000271253"	"00007280"	"10"	"1320"	"0"	"1320"	"0"	"c.1320T>A"	"r.(?)"	"p.(Phe440Leu)"	""
"0000271254"	"00007280"	"30"	"1405"	"0"	"1405"	"0"	"c.1405G>A"	"r.(?)"	"p.(Glu469Lys)"	""
"0000271255"	"00007280"	"10"	"1528"	"0"	"1528"	"0"	"c.1528G>A"	"r.(?)"	"p.(Val510Ile)"	""
"0000271256"	"00007280"	"10"	"2279"	"0"	"2279"	"0"	"c.2279G>A"	"r.(?)"	"p.(Arg760Gln)"	""
"0000271257"	"00007280"	"10"	"2363"	"0"	"2363"	"0"	"c.2363G>A"	"r.(?)"	"p.(Arg788His)"	""
"0000271258"	"00007280"	"30"	"89"	"0"	"89"	"0"	"c.89C>T"	"r.(?)"	"p.(Pro30Leu)"	""
"0000271259"	"00007280"	"10"	"939"	"11"	"939"	"11"	"c.939+11G>T"	"r.(=)"	"p.(=)"	""
"0000271260"	"00007280"	"10"	"-2853"	"0"	"-2853"	"0"	"c.-2853C>T"	"r.(?)"	"p.(=)"	""
"0000271268"	"00007280"	"10"	"-2919"	"0"	"-2919"	"0"	"c.-2919G>A"	"r.(?)"	"p.(=)"	""
"0000276423"	"00007280"	"30"	"-2989"	"0"	"-2989"	"0"	"c.-2989G>T"	"r.(?)"	"p.(=)"	""
"0000329881"	"00007280"	"50"	"89"	"0"	"89"	"0"	"c.89C>T"	"r.(?)"	"p.(Pro30Leu)"	""
"0000329882"	"00007280"	"50"	"439"	"0"	"439"	"0"	"c.439G>C"	"r.(?)"	"p.(Val147Leu)"	""
"0000329883"	"00007280"	"30"	"1320"	"0"	"1320"	"0"	"c.1320T>A"	"r.(?)"	"p.(Phe440Leu)"	""
"0000329884"	"00007280"	"30"	"1333"	"0"	"1333"	"0"	"c.1333A>C"	"r.(?)"	"p.(Lys445Gln)"	""
"0000329885"	"00007280"	"30"	"1826"	"0"	"1826"	"0"	"c.1826G>A"	"r.(?)"	"p.(Arg609Gln)"	""
"0000338433"	"00007280"	"10"	"802"	"-15"	"802"	"-15"	"c.802-15C>T"	"r.(=)"	"p.(=)"	""
"0000338434"	"00007280"	"10"	"939"	"10"	"939"	"10"	"c.939+10A>G"	"r.(=)"	"p.(=)"	""
"0000338435"	"00007280"	"10"	"1099"	"-19"	"1099"	"-19"	"c.1099-19T>C"	"r.(=)"	"p.(=)"	""
"0000338444"	"00007280"	"10"	"2305"	"-8"	"2305"	"-8"	"c.2305-8T>C"	"r.(=)"	"p.(=)"	""
"0000338445"	"00007280"	"10"	"2894"	"18"	"2894"	"18"	"c.2894+18A>G"	"r.(=)"	"p.(=)"	""
"0000338446"	"00007280"	"10"	"2993"	"0"	"2993"	"0"	"c.*14G>A"	"r.(=)"	"p.(=)"	""
"0000340247"	"00007280"	"10"	"769"	"0"	"769"	"0"	"c.769C>T"	"r.(?)"	"p.(Leu257=)"	""
"0000340248"	"00007280"	"10"	"969"	"0"	"969"	"0"	"c.969T>C"	"r.(?)"	"p.(Asn323=)"	""
"0000340249"	"00007280"	"10"	"1026"	"0"	"1026"	"0"	"c.1026G>C"	"r.(?)"	"p.(Leu342=)"	""
"0000340250"	"00007280"	"10"	"1068"	"0"	"1068"	"0"	"c.1068A>G"	"r.(?)"	"p.(Leu356=)"	""
"0000343122"	"00007280"	"10"	"1727"	"0"	"1727"	"0"	"c.1727G>A"	"r.(?)"	"p.(Arg576Gln)"	""
"0000349522"	"00007280"	"10"	"1346"	"0"	"1346"	"0"	"c.1346C>A"	"r.(?)"	"p.(Thr449Lys)"	""
"0000350007"	"00007280"	"10"	"772"	"0"	"772"	"0"	"c.772T>C"	"r.(?)"	"p.(Tyr258His)"	""
"0000522725"	"00007280"	"30"	"-2989"	"0"	"-2989"	"0"	"c.-2989G>T"	"r.(?)"	"p.(=)"	""
"0000522726"	"00007280"	"30"	"-2929"	"0"	"-2929"	"0"	"c.-2929A>G"	"r.(?)"	"p.(=)"	""
"0000522727"	"00007280"	"30"	"230"	"0"	"230"	"0"	"c.230C>T"	"r.(?)"	"p.(Ser77Leu)"	""
"0000522728"	"00007280"	"10"	"284"	"0"	"284"	"0"	"c.284A>G"	"r.(?)"	"p.(Asp95Gly)"	""
"0000522730"	"00007280"	"30"	"341"	"0"	"341"	"0"	"c.341C>T"	"r.(?)"	"p.(Ala114Val)"	""
"0000522731"	"00007280"	"30"	"469"	"0"	"469"	"0"	"c.469C>G"	"r.(?)"	"p.(Pro157Ala)"	""
"0000522732"	"00007280"	"30"	"473"	"0"	"473"	"0"	"c.473C>G"	"r.(?)"	"p.(Ser158Cys)"	""
"0000522733"	"00007280"	"30"	"550"	"0"	"550"	"0"	"c.550G>A"	"r.(?)"	"p.(Asp184Asn)"	""
"0000522734"	"00007280"	"30"	"550"	"0"	"550"	"0"	"c.550G>A"	"r.(?)"	"p.(Asp184Asn)"	""
"0000522735"	"00007280"	"10"	"802"	"-12"	"802"	"-11"	"c.802-12_802-11del"	"r.(=)"	"p.(=)"	""
"0000522737"	"00007280"	"30"	"934"	"0"	"934"	"0"	"c.934G>A"	"r.(?)"	"p.(Asp312Asn)"	""
"0000522738"	"00007280"	"10"	"939"	"4"	"939"	"4"	"c.939+4C>T"	"r.spl?"	"p.?"	""
"0000522739"	"00007280"	"30"	"1040"	"0"	"1040"	"0"	"c.1040C>T"	"r.(?)"	"p.(Thr347Met)"	""
"0000522740"	"00007280"	"30"	"1096"	"0"	"1096"	"0"	"c.1096C>T"	"r.(?)"	"p.(Leu366=)"	""
"0000522741"	"00007280"	"30"	"1101"	"0"	"1101"	"0"	"c.1101C>T"	"r.(?)"	"p.(Asp367=)"	""
"0000522742"	"00007280"	"10"	"1115"	"0"	"1115"	"0"	"c.1115C>T"	"r.(?)"	"p.(Thr372Met)"	""
"0000522745"	"00007280"	"30"	"1328"	"0"	"1328"	"0"	"c.1328G>A"	"r.(?)"	"p.(Arg443Gln)"	""
"0000522746"	"00007280"	"10"	"1328"	"0"	"1328"	"0"	"c.1328G>A"	"r.(?)"	"p.(Arg443Gln)"	""
"0000522747"	"00007280"	"10"	"1328"	"0"	"1328"	"0"	"c.1328G>A"	"r.(?)"	"p.(Arg443Gln)"	""
"0000522748"	"00007280"	"30"	"1369"	"0"	"1369"	"0"	"c.1369G>A"	"r.(?)"	"p.(Glu457Lys)"	""
"0000522751"	"00007280"	"50"	"1472"	"0"	"1472"	"0"	"c.1472A>T"	"r.(?)"	"p.(His491Leu)"	""
"0000522752"	"00007280"	"30"	"1503"	"0"	"1503"	"0"	"c.1503G>T"	"r.(?)"	"p.(Gln501His)"	""
"0000522753"	"00007280"	"30"	"1528"	"0"	"1528"	"0"	"c.1528G>A"	"r.(?)"	"p.(Val510Ile)"	""
"0000522754"	"00007280"	"30"	"1528"	"0"	"1528"	"0"	"c.1528G>A"	"r.(?)"	"p.(Val510Ile)"	""
"0000522763"	"00007280"	"90"	"1701"	"0"	"1701"	"0"	"c.1701G>A"	"r.(?)"	"p.(Trp567Ter)"	""
"0000522764"	"00007280"	"30"	"1776"	"7"	"1776"	"7"	"c.1776+7del"	"r.(=)"	"p.(=)"	""
"0000522767"	"00007280"	"10"	"1854"	"0"	"1854"	"0"	"c.1854C>T"	"r.(?)"	"p.(Gly618=)"	""
"0000522768"	"00007280"	"30"	"1907"	"0"	"1907"	"0"	"c.1907A>G"	"r.(?)"	"p.(Gln636Arg)"	""
"0000522770"	"00007280"	"30"	"2279"	"0"	"2279"	"0"	"c.2279G>A"	"r.(?)"	"p.(Arg760Gln)"	""
"0000522771"	"00007280"	"10"	"2305"	"-8"	"2305"	"-8"	"c.2305-8T>C"	"r.(=)"	"p.(=)"	""
"0000522772"	"00007280"	"30"	"2321"	"0"	"2321"	"0"	"c.2321C>T"	"r.(?)"	"p.(Ala774Val)"	""
"0000522773"	"00007280"	"30"	"2350"	"0"	"2350"	"0"	"c.2350G>A"	"r.(?)"	"p.(Ala784Thr)"	""
"0000522774"	"00007280"	"10"	"2363"	"0"	"2363"	"0"	"c.2363G>A"	"r.(?)"	"p.(Arg788His)"	""
"0000522775"	"00007280"	"30"	"2504"	"0"	"2504"	"0"	"c.2504C>T"	"r.(?)"	"p.(Ser835Leu)"	""
"0000522776"	"00007280"	"30"	"2562"	"-4"	"2562"	"-4"	"c.2562-4C>G"	"r.spl?"	"p.?"	""
"0000522777"	"00007280"	"50"	"2829"	"0"	"2830"	"0"	"c.2829_2830del"	"r.(?)"	"p.(Asp945ProfsTer7)"	""
"0000609248"	"00007280"	"30"	"469"	"0"	"469"	"0"	"c.469C>G"	"r.(?)"	"p.(Pro157Ala)"	""
"0000609249"	"00007280"	"50"	"516"	"0"	"516"	"0"	"c.516C>G"	"r.(?)"	"p.(Cys172Trp)"	""
"0000609252"	"00007280"	"90"	"873"	"0"	"873"	"0"	"c.873dup"	"r.(?)"	"p.(Glu292Ter)"	""
"0000609253"	"00007280"	"30"	"1636"	"0"	"1636"	"0"	"c.1636A>G"	"r.(?)"	"p.(Met546Val)"	""
"0000609254"	"00007280"	"30"	"1826"	"0"	"1826"	"0"	"c.1826G>A"	"r.(?)"	"p.(Arg609Gln)"	""
"0000621402"	"00007280"	"30"	"550"	"0"	"550"	"0"	"c.550G>A"	"r.(?)"	"p.(Asp184Asn)"	""
"0000621403"	"00007280"	"30"	"939"	"9"	"939"	"9"	"c.939+9C>T"	"r.(=)"	"p.(=)"	""
"0000621404"	"00007280"	"30"	"1369"	"0"	"1369"	"0"	"c.1369G>A"	"r.(?)"	"p.(Glu457Lys)"	""
"0000621406"	"00007280"	"30"	"2963"	"0"	"2963"	"0"	"c.2963G>A"	"r.(?)"	"p.(Arg988Lys)"	""
"0000651494"	"00007280"	"10"	"341"	"0"	"341"	"0"	"c.341C>T"	"r.(?)"	"p.(Ala114Val)"	""
"0000663275"	"00007280"	"30"	"1369"	"0"	"1369"	"0"	"c.1369G>A"	"r.(?)"	"p.(Glu457Lys)"	""
"0000669816"	"00007280"	"10"	"341"	"0"	"341"	"0"	"c.341C>T"	"r.(?)"	"p.(Ala114Val)"	""
"0000674988"	"00007280"	"70"	"1988"	"0"	"1988"	"0"	"c.1988G>C"	"r.(?)"	"p.(Arg663Pro)"	"14"
"0000675112"	"00007280"	"90"	"1864"	"0"	"1864"	"0"	"c.1864C>T"	"r.(?)"	"p.(Arg622*)"	"13"
"0000675113"	"00007280"	"10"	"1825"	"0"	"1825"	"0"	"c.1825C>T"	"r.(?)"	"p.(Arg609Trp)"	"13"
"0000675115"	"00007280"	"10"	"1328"	"0"	"1328"	"0"	"c.1328G>A"	"r.(?)"	"p.(Arg443Gln)"	"10"
"0000675120"	"00007280"	"90"	"1018"	"0"	"1018"	"0"	"c.1018C>T"	"r.(?)"	"p.(Arg340*)"	""
"0000675121"	"00007280"	"90"	"735"	"0"	"735"	"0"	"c.735del"	"r.(?)"	"p.(Asp246Thrfs*27)"	""
"0000675122"	"00007280"	"90"	"919"	"0"	"919"	"0"	"c.919T>C"	"r.(?)"	"p.(Ser307Pro)"	""
"0000675123"	"00007280"	"90"	"2457"	"0"	"2457"	"0"	"c.2457del"	"r.(?)"	"p.(Met820Trpfs*108)"	""
"0000675124"	"00007280"	"90"	"1886"	"5"	"1886"	"5"	"c.1886+5G>T"	"r.spl?"	"p.?"	"13i"
"0000675125"	"00007280"	"10"	"2279"	"0"	"2279"	"0"	"c.2279G>A"	"r.(?)"	"p.(Arg760Gln)"	""
"0000675126"	"00007280"	"90"	"904"	"0"	"906"	"0"	"c.904_906del"	"r.(?)"	"p.(Lys302del)"	""
"0000675127"	"00007280"	"90"	"910"	"0"	"910"	"0"	"c.910dup"	"r.(?)"	"p.(Arg304Lysfs*5)"	"7"
"0000675128"	"00007280"	"90"	"2635"	"0"	"2635"	"0"	"c.2635C>T"	"r.(?)"	"p.(Gln879*)"	"18"
"0000675129"	"00007280"	"90"	"0"	"0"	"0"	"0"	"c.(1563+1_1564-1)_*3267{0}"	"r.?"	"p.?"	"11i_21_"
"0000675130"	"00007280"	"70"	"1328"	"0"	"1328"	"0"	"c.1328G>A"	"r.(?)"	"p.(Arg443Gln)"	"10"
"0000675131"	"00007280"	"10"	"221"	"0"	"221"	"0"	"c.221A>C"	"r.(?)"	"p.(Gln74Pro)"	""
"0000675132"	"00007280"	"10"	"772"	"0"	"772"	"0"	"c.772T>C"	"r.(?)"	"p.(Tyr258His)"	""
"0000675133"	"00007280"	"10"	"1207"	"0"	"1207"	"0"	"c.1207G>A"	"r.(?)"	"p.(Gly403Ser)"	""
"0000675134"	"00007280"	"10"	"1346"	"0"	"1346"	"0"	"c.1346C>A"	"r.(?)"	"p.(Thr449Lys)"	""
"0000675135"	"00007280"	"10"	"1727"	"0"	"1727"	"0"	"c.1727G>A"	"r.(?)"	"p.(Arg576Gln)"	""
"0000675136"	"00007280"	"10"	"2279"	"0"	"2279"	"0"	"c.2279G>A"	"r.(?)"	"p.(Arg760Gln)"	""
"0000675137"	"00007280"	"10"	"2858"	"0"	"2858"	"0"	"c.2858A>G"	"r.(?)"	"p.(Asp953Gly)"	""
"0000675138"	"00007280"	"70"	"1316"	"-7"	"1316"	"-7"	"c.1316-7A>G"	"r.(1315_1316ins1316-6_1316-1)"	"p.(Arg438_Glu439insValPro)"	""
"0000675141"	"00007280"	"90"	"1864"	"0"	"1864"	"0"	"c.1864C>T"	"r.(?)"	"p.(Arg622*)"	"13"
"0000675142"	"00007280"	"10"	"1825"	"0"	"1825"	"0"	"c.1825C>T"	"r.(?)"	"p.(Arg609Trp)"	"13"
"0000675143"	"00007280"	"10"	"1328"	"0"	"1328"	"0"	"c.1328G>A"	"r.(?)"	"p.(Arg443Gln)"	"10"
"0000675165"	"00007280"	"90"	"1864"	"0"	"1864"	"0"	"c.1864C>T"	"r.(?)"	"p.(Arg622*)"	""
"0000675166"	"00007280"	"90"	"15"	"0"	"16"	"0"	"c.15_16ins(46)"	"r.?"	"p.?"	""
"0000677294"	"00007280"	"30"	"-2959"	"0"	"-2959"	"0"	"c.-2959A>G"	"r.(?)"	"p.(=)"	""
"0000677295"	"00007280"	"30"	"284"	"0"	"284"	"0"	"c.284A>G"	"r.(?)"	"p.(Asp95Gly)"	""
"0000677296"	"00007280"	"30"	"1588"	"0"	"1588"	"0"	"c.1588A>G"	"r.(?)"	"p.(Thr530Ala)"	""
"0000677297"	"00007280"	"30"	"2298"	"0"	"2298"	"0"	"c.2298C>T"	"r.(?)"	"p.(Asp766=)"	""
"0000689316"	"00007280"	"90"	"873"	"0"	"873"	"0"	"c.873dup"	"r.(?)"	"p.(Glu292Ter)"	""
"0000689319"	"00007280"	"30"	"1962"	"0"	"1962"	"0"	"c.1962C>T"	"r.(?)"	"p.(Asn654=)"	""
"0000710724"	"00007280"	"90"	"770"	"0"	"770"	"0"	"c.770T>A"	"r.(?)"	"p.(Leu257Gln)"	"6"
"0000710725"	"00007280"	"90"	"1887"	"-9"	"1900"	"0"	"c.1887-9_1900del"	"r.spl"	"p.?"	"13i_14"
"0000710729"	"00007280"	"90"	"0"	"0"	"0"	"0"	"c.-184_1564-4573{0}"	"r.([NM_018401.1:r.-64_260]::1564_*3267)"	"p.?"	"_1_11i"
"0000710730"	"00007280"	"90"	"1098"	"1"	"1098"	"1"	"c.1098+1G>A"	"r.spl"	"p.?"	"8i"
"0000710731"	"00007280"	"90"	"1018"	"0"	"1018"	"0"	"c.1018C>T"	"r.(?)"	"p.(Arg340*)"	"8"
"0000710732"	"00007280"	"90"	"1694"	"0"	"1694"	"0"	"c.1694del"	"r.(?)"	"p.(Ala565Valfs*23)"	"12"
"0000710733"	"00007280"	"90"	"174"	"1"	"174"	"1"	"c.174+1G>A"	"r.spl"	"p.?"	"1i"
"0000710734"	"00007280"	"90"	"1777"	"-2"	"1777"	"-2"	"c.1777-2A>G"	"r.spl"	"p.?"	"12i"
"0000710735"	"00007280"	"90"	"1813"	"0"	"1813"	"0"	"c.1813C>T"	"r.(?)"	"p.(Gln605*)"	"13"
"0000710736"	"00007280"	"90"	"2088"	"0"	"2089"	"0"	"c.2088_2089dup"	"r.(?)"	"p.(Arg697Thrfs*15)"	"14"
"0000710737"	"00007280"	"90"	"904"	"0"	"906"	"0"	"c.904_906del"	"r.(?)"	"p.(Lys302del)"	"7"
"0000710738"	"00007280"	"90"	"2277"	"0"	"2280"	"0"	"c.2277_2280dup"	"r.(?)"	"p.(Ala761Profs*7)"	"15"
"0000710739"	"00007280"	"90"	"2304"	"2"	"2304"	"2"	"c.2304+2T>G"	"r.spl"	"p.?"	"15i"
"0000710740"	"00007280"	"90"	"2688"	"0"	"2688"	"0"	"c.2688G>C"	"r.(?)"	"p.(Gln896His)"	"18"
"0000710741"	"00007280"	"90"	"384"	"5"	"384"	"6"	"c.384+5_384+6delinsAC"	"r.spl"	"p.?"	"3i"
"0000710742"	"00007280"	"90"	"703"	"-1"	"703"	"-1"	"c.703-1G>C"	"r.spl"	"p.?"	"5i"
"0000710743"	"00007280"	"90"	"873"	"0"	"873"	"0"	"c.873dup"	"r.(?)"	"p.(Glu292*)"	"7"
"0000710744"	"00007280"	"90"	"873"	"0"	"873"	"0"	"c.873dup"	"r.(?)"	"p.(Glu292*)"	"7"
"0000710745"	"00007280"	"90"	"910"	"0"	"910"	"0"	"c.910dup"	"r.(?)"	"p.(Arg304Lysfs*5)"	"7"
"0000710746"	"00007280"	"90"	"919"	"0"	"919"	"0"	"c.919T>C"	"r.(?)"	"p.(Ser307Pro)"	"7"
"0000710747"	"00007280"	"90"	"919"	"0"	"919"	"0"	"c.919T>C"	"r.(?)"	"p.(Ser307Pro)"	"7"
"0000710748"	"00007280"	"90"	"0"	"0"	"0"	"0"	"c.(1315+1_1316-1)_*3267{0}"	"r.?"	"p.?"	"9i_21_"
"0000710749"	"00007280"	"90"	"1886"	"5"	"1886"	"5"	"c.1886+5G>T"	"r.spl"	"p.?"	"13i"
"0000710750"	"00007280"	"90"	"2635"	"0"	"2635"	"0"	"c.2635C>T"	"r.(?)"	"p.(Gln879*)"	"18"
"0000710751"	"00007280"	"90"	"1886"	"5"	"1886"	"5"	"c.1886+5G>T"	"r.[1777_1886del,1886_1887ins[gugau,1886+6_1886+115],1776_1776ins(114)]"	"p.?"	"13i"
"0000710752"	"00007280"	"90"	"1868"	"0"	"1868"	"0"	"c.1868T>C"	"r.(?)"	"p.(Leu623Pro)"	"13"
"0000710789"	"00007280"	"90"	"0"	"0"	"0"	"0"	"c.-184_1563+7728{0}"	"r.([NM_018401.1:r.-64_260]::1564_*3267)"	"p.?"	"_1_11i"
"0000710790"	"00007280"	"90"	"1694"	"0"	"1694"	"0"	"c.1694del"	"r.(?)"	"p.(Ala565Valfs*23)"	"12"
"0000710791"	"00007280"	"90"	"1694"	"0"	"1694"	"0"	"c.1694del"	"r.(?)"	"p.(Ala565Valfs*23)"	"12"
"0000710792"	"00007280"	"90"	"2200"	"0"	"2200"	"0"	"c.2200C>T"	"r.(?)"	"p.(Gln734*)"	"15"
"0000710904"	"00007280"	"90"	"1694"	"0"	"1694"	"0"	"c.1694del"	"r.(?)"	"p.(Ala565Valfs*23)"	""
"0000710905"	"00007280"	"90"	"618"	"-2"	"618"	"-2"	"c.618-2A>G"	"r.spl"	"p.?"	""
"0000710906"	"00007280"	"90"	"1373"	"0"	"1373"	"0"	"c.1373del"	"r.(?)"	"p.(Gly458Glufs*42)"	""
"0000710907"	"00007280"	"90"	"1886"	"5"	"1886"	"5"	"c.1886+5G>A"	"r.(1886_1887ins[gugaa;1886+6_1887-1])"	"p.?"	""
"0000710908"	"00007280"	"90"	"618"	"-1"	"618"	"-1"	"c.618-1G>T"	"r.spl"	"p.?"	""
"0000710909"	"00007280"	"90"	"801"	"1"	"801"	"1"	"c.801+1G>T"	"r.spl"	"p.?"	""
"0000710910"	"00007280"	"90"	"752"	"0"	"752"	"0"	"c.752dup"	"r.(?)"	"p.(Lys252Glufs*4)"	""
"0000710911"	"00007280"	"90"	"1777"	"-1"	"1777"	"-1"	"c.1777-1G>A"	"r.spl"	"p.?"	""
"0000710912"	"00007280"	"90"	"1056"	"0"	"1059"	"0"	"c.1056_1059dup"	"r.(?)"	"p.(Glu354Serfs*31)"	""
"0000710913"	"00007280"	"90"	"1056"	"0"	"1059"	"0"	"c.1056_1059dup"	"r.(?)"	"p.(Glu354Serfs*31)"	""
"0000710914"	"00007280"	"90"	"186"	"0"	"187"	"0"	"c.186_187del"	"r.(?)"	"p.(Gln63Lysfs*9)"	""
"0000710915"	"00007280"	"90"	"1036"	"0"	"1037"	"0"	"c.1036_1037del"	"r.(?)"	"p.(Leu346Aspfs*37)"	""
"0000710916"	"00007280"	"90"	"829"	"0"	"829"	"0"	"c.829C>T"	"r.(?)"	"p.(Gln277*)"	""
"0000710917"	"00007280"	"90"	"364"	"0"	"364"	"0"	"c.364C>T"	"r.(?)"	"p.(Pro122Ser)"	""
"0000710918"	"00007280"	"90"	"1886"	"5"	"1886"	"5"	"c.1886+5G>A"	"r.(1886_1887ins[gugaa;1886+6_1887-1])"	"p.?"	""
"0000710919"	"00007280"	"90"	"1694"	"0"	"1694"	"0"	"c.1694del"	"r.(?)"	"p.(Ala565Valfs*23)"	""
"0000710920"	"00007280"	"90"	"1694"	"0"	"1694"	"0"	"c.1694del"	"r.(?)"	"p.(Ala565Valfs*23)"	""
"0000710921"	"00007280"	"90"	"301"	"-1"	"1563"	"1"	"c.(300+1_301-1)_(1563+1_1564-1)del"	"r.?"	"p.?"	"2i_"
"0000710922"	"00007280"	"90"	"904"	"0"	"906"	"0"	"c.904_906del"	"r.(?)"	"p.(Lys302del)"	""
"0000710923"	"00007280"	"90"	"635"	"0"	"635"	"0"	"c.635del"	"r.(?)"	"p.(Cys212Leufs*7)"	""
"0000710934"	"00007280"	"90"	"1694"	"0"	"1694"	"0"	"c.1694del"	"r.(?)"	"p.(Ala565Valfs*23)"	""
"0000710935"	"00007280"	"90"	"919"	"0"	"919"	"0"	"c.919T>C"	"r.(?)"	"p.(Ser307Pro)"	""
"0000710936"	"00007280"	"90"	"1886"	"5"	"1886"	"5"	"c.1886+5G>T"	"r.(1886_1887ins[gugat;1886+6_1887-1])"	"p.?"	""
"0000710937"	"00007280"	"90"	"617"	"0"	"617"	"0"	"c.617G>A"	"r.(?)"	"p.(Ser206Asn)"	""
"0000710938"	"00007280"	"90"	"1783"	"0"	"1886"	"40"	"c.1783_1886+40del"	"r.spl"	"p.?"	""
"0000710939"	"00007280"	"90"	"919"	"0"	"919"	"0"	"c.919T>C"	"r.(?)"	"p.(Ser307Pro)"	""
"0000710940"	"00007280"	"90"	"2894"	"3"	"2894"	"3"	"c.2894+3A>G"	"r.(2783_2894del)"	"p.?"	""
"0000710941"	"00007280"	"90"	"2894"	"3"	"2894"	"3"	"c.2894+3A>G"	"r.(2783_2894del)"	"p.?"	""
"0000710942"	"00007280"	"90"	"1501"	"0"	"1501"	"0"	"c.1501C>T"	"r.(?)"	"p.(Gln501*)"	""
"0000710943"	"00007280"	"90"	"928"	"0"	"928"	"0"	"c.928C>G"	"r.(?)"	"p.(Leu310Val)"	""
"0000710944"	"00007280"	"90"	"1783"	"0"	"1886"	"40"	"c.1783_1886+40del"	"r.spl"	"p.?"	""
"0000710949"	"00007280"	"90"	"617"	"0"	"617"	"0"	"c.617G>A"	"r.(?)"	"p.(Ser206Asn)"	""
"0000710951"	"00007280"	"90"	"1813"	"0"	"1813"	"0"	"c.1813C>T"	"r.(?)"	"p.(Gln605*)"	""
"0000710955"	"00007280"	"90"	"2"	"0"	"2"	"0"	"c.2T>A"	"r.(?)"	"p.(Met1?)"	"1"
"0000710956"	"00007280"	"90"	"175"	"-2"	"175"	"-2"	"c.175-2A>G"	"r.spl"	"p.?"	"1i"
"0000710957"	"00007280"	"90"	"203"	"0"	"203"	"0"	"c.203del"	"r.(?)"	"p.(Asn68Ilefs*48)"	"2"
"0000710958"	"00007280"	"90"	"363"	"0"	"363"	"0"	"c.363C>A"	"r.(?)"	"p.(Tyr121*)"	"3"
"0000710959"	"00007280"	"90"	"708"	"0"	"708"	"0"	"c.708dup"	"r.(?)"	"p.(Ile237Tyrfs*5)"	"6"
"0000710960"	"00007280"	"90"	"873"	"0"	"873"	"0"	"c.873dup"	"r.(?)"	"p.(Glu292*)"	"7"
"0000710961"	"00007280"	"90"	"904"	"0"	"906"	"0"	"c.904_906del"	"r.(?)"	"p.(Lys302del)"	"7"
"0000710962"	"00007280"	"90"	"940"	"-150"	"940"	"-150"	"c.940-150T>G"	"r.[939_940ins940-378_940-155,939_940ins940-246_940-155,939_940ins940-243_940-155]"	"p.?"	"7i"
"0000710963"	"00007280"	"90"	"1018"	"0"	"1018"	"0"	"c.1018C>T"	"r.(?)"	"p.(Arg340*)"	"8"
"0000710964"	"00007280"	"90"	"1018"	"0"	"1018"	"0"	"c.1018C>T"	"r.(?)"	"p.(Arg340*)"	"8"
"0000710965"	"00007280"	"90"	"1217"	"0"	"1217"	"0"	"c.1217del"	"r.(?)"	"p.(Leu406Argfs*94)"	"9"
"0000710966"	"00007280"	"90"	"1255"	"0"	"1255"	"0"	"c.1255G>T"	"r.(?)"	"p.(Glu419*)"	"9"
"0000710967"	"00007280"	"90"	"1269"	"0"	"1278"	"0"	"c.1269_1278del"	"r.(?)"	"p.(Gln424Argfs*73)"	"9"
"0000710968"	"00007280"	"90"	"1563"	"1"	"1563"	"1"	"c.1563+1G>C"	"r.spl"	"p.?"	"11i"
"0000710969"	"00007280"	"90"	"1858"	"0"	"1878"	"0"	"c.1858_1878del"	"r.(?)"	"p.(Leu620_Leu626del)"	"13"
"0000710970"	"00007280"	"90"	"1858"	"0"	"1878"	"0"	"c.1858_1878del"	"r.(?)"	"p.(Leu620_Leu626del)"	"13"
"0000710971"	"00007280"	"90"	"1868"	"0"	"1868"	"0"	"c.1868T>C"	"r.(?)"	"p.(Leu623Pro)"	"13"
"0000710972"	"00007280"	"90"	"2344"	"0"	"2345"	"0"	"c.2344_2345del"	"r.(?)"	"p.(Thr782Glnfs*26)"	"16"
"0000710998"	"00007280"	"90"	"1114"	"0"	"1122"	"0"	"c.1114_1122del"	"r.(?)"	"p.(Thr372_Gly374del)"	"9"
"0000710999"	"00007280"	"90"	"1678"	"0"	"1678"	"0"	"c.1678G>T"	"r.(?)"	"p.(Glu560*)"	"12"
"0000711000"	"00007280"	"90"	"1060"	"0"	"1060"	"0"	"c.1060G>T"	"r.(?)"	"p.(Glu354*)"	"8"
"0000711001"	"00007280"	"90"	"1098"	"1"	"1098"	"1"	"c.1098+1G>A"	"r.[940_1098del,1071_1098del]"	"p.?"	"8i"
"0000711002"	"00007280"	"90"	"2357"	"0"	"2370"	"0"	"c.2357_2370del"	"r.(?)"	"-"	"16"
"0000711003"	"00007280"	"10"	"1068"	"0"	"1068"	"0"	"c.1068A>G"	"r.1068a>g"	"p.(=)"	""
"0000719932"	"00007280"	"90"	"-3062"	"0"	"-3058"	"0"	"c.-3062_-3058dup"	"r.(?)"	"p.(=)"	""
"0000719933"	"00007280"	"30"	"-3043"	"0"	"-3043"	"0"	"c.-3043C>G"	"r.(?)"	"p.(=)"	""
"0000719934"	"00007280"	"30"	"105"	"0"	"105"	"0"	"c.105C>A"	"r.(?)"	"p.(Gly35=)"	""
"0000719935"	"00007280"	"30"	"435"	"0"	"435"	"0"	"c.435G>A"	"r.(?)"	"p.(Gln145=)"	""
"0000719936"	"00007280"	"50"	"569"	"0"	"569"	"0"	"c.569G>T"	"r.(?)"	"p.(Arg190Leu)"	""
"0000719938"	"00007280"	"30"	"934"	"0"	"934"	"0"	"c.934G>A"	"r.(?)"	"p.(Asp312Asn)"	""
"0000719939"	"00007280"	"30"	"1428"	"0"	"1428"	"0"	"c.1428G>C"	"r.(?)"	"p.(Glu476Asp)"	""
"0000719940"	"00007280"	"30"	"1505"	"0"	"1505"	"0"	"c.1505G>A"	"r.(?)"	"p.(Cys502Tyr)"	""
"0000719943"	"00007280"	"90"	"1694"	"0"	"1694"	"0"	"c.1694del"	"r.(?)"	"p.(Ala565Valfs*23)"	""
"0000719945"	"00007280"	"90"	"2616"	"0"	"2616"	"0"	"c.2616dup"	"r.(?)"	"p.(Arg873Alafs*27)"	""
"0000729929"	"00007280"	"90"	"101"	"0"	"101"	"0"	"c.101dup"	"r.(?)"	"p.(Ala36Argfs*37)"	""
"0000801665"	"00007280"	"30"	"-2989"	"0"	"-2989"	"0"	"c.-2989G>T"	"r.(?)"	"p.(=)"	""
"0000801668"	"00007280"	"30"	"1423"	"0"	"1423"	"0"	"c.1423G>A"	"r.(?)"	"p.(Ala475Thr)"	""
"0000801669"	"00007280"	"30"	"1855"	"0"	"1855"	"0"	"c.1855G>A"	"r.(?)"	"p.(Val619Ile)"	""
"0000801670"	"00007280"	"30"	"2322"	"0"	"2322"	"0"	"c.2322G>C"	"r.(?)"	"p.(Ala774=)"	""
"0000801671"	"00007280"	"30"	"2449"	"12"	"2449"	"12"	"c.2449+12C>G"	"r.(=)"	"p.(=)"	""
"0000818852"	"00007280"	"90"	"1500"	"0"	"1500"	"0"	"c.1500G>A"	"r.(?)"	"p.(Met500Ile)"	"11"
"0000818853"	"00007280"	"90"	"1668"	"0"	"1668"	"0"	"c.1668C>G"	"r.(?)"	"p.(Tyr556*)"	"12"
"0000818854"	"00007280"	"90"	"1018"	"0"	"1018"	"0"	"c.1018C>T"	"r.(?)"	"p.(Arg340*)"	"8"
"0000818855"	"00007280"	"90"	"904"	"0"	"906"	"0"	"c.904_906del"	"r.(?)"	"p.(Lys302del)"	"7"
"0000818856"	"00007280"	"90"	"904"	"0"	"906"	"0"	"c.904_906del"	"r.(?)"	"p.(Lys302del)"	"7"
"0000818857"	"00007280"	"90"	"1886"	"5"	"1886"	"5"	"c.1886+5G>T"	"r.spl?"	"p.?"	"13i"
"0000818858"	"00007280"	"90"	"363"	"0"	"363"	"0"	"c.363C>A"	"r.(?)"	"p.(Tyr121*)"	"3"
"0000850637"	"00007280"	"30"	"550"	"0"	"550"	"0"	"c.550G>A"	"r.(?)"	"p.(Asp184Asn)"	""
"0000850639"	"00007280"	"50"	"904"	"0"	"906"	"0"	"c.904_906del"	"r.(?)"	"p.(Lys302del)"	""
"0000850640"	"00007280"	"30"	"1269"	"0"	"1269"	"0"	"c.1269G>A"	"r.(?)"	"p.(Thr423=)"	""
"0000859462"	"00007280"	"10"	"934"	"0"	"934"	"0"	"c.934G>A"	"r.(?)"	"p.(Asp312Asn)"	""
"0000873445"	"00007280"	"70"	"1436"	"0"	"1436"	"0"	"c.1436C>T"	"r.(?)"	"p.(Pro479Leu)"	""
"0000877241"	"00007280"	"50"	"255"	"0"	"255"	"0"	"c.255G>A"	"r.(?)"	"p.(=)"	""
"0000886304"	"00007280"	"90"	"-2983"	"0"	"-2983"	"0"	"c.-2983C>T"	"r.(?)"	"p.(=)"	""
"0000886312"	"00007280"	"30"	"1313"	"0"	"1313"	"0"	"c.1313G>A"	"r.(?)"	"p.(Arg438Gln)"	""
"0000886313"	"00007280"	"30"	"1369"	"0"	"1369"	"0"	"c.1369G>A"	"r.(?)"	"p.(Glu457Lys)"	""
"0000886316"	"00007280"	"30"	"1651"	"0"	"1651"	"0"	"c.1651C>G"	"r.(?)"	"p.(Pro551Ala)"	""
"0000886317"	"00007280"	"30"	"1995"	"0"	"1995"	"0"	"c.1995G>A"	"r.(?)"	"p.(Ser665=)"	""
"0000886318"	"00007280"	"50"	"2783"	"0"	"2783"	"0"	"c.2783A>G"	"r.(?)"	"p.(Glu928Gly)"	""
"0000912119"	"00007280"	"50"	"511"	"0"	"511"	"0"	"c.511G>A"	"r.(?)"	"p.(Asp171Asn)"	""
"0000912120"	"00007280"	"50"	"835"	"0"	"837"	"0"	"c.835_837del"	"r.(?)"	"p.(Lys279del)"	""
"0000912121"	"00007280"	"50"	"899"	"0"	"899"	"0"	"c.899A>C"	"r.(?)"	"p.(Glu300Ala)"	""
"0000912123"	"00007280"	"50"	"2182"	"0"	"2182"	"0"	"c.2182G>A"	"r.(?)"	"p.(Glu728Lys)"	""
"0000928917"	"00007280"	"30"	"8"	"0"	"8"	"0"	"c.8G>C"	"r.(?)"	"p.(Arg3Pro)"	""
"0000928920"	"00007280"	"30"	"2872"	"0"	"2872"	"0"	"c.2872G>A"	"r.(?)"	"p.(Asp958Asn)"	""
"0000933879"	"00007280"	"90"	"873"	"0"	"873"	"0"	"c.873dup"	"r.(?)"	"p.(Glu292*)"	"7"
"0000933880"	"00007280"	"90"	"801"	"0"	"801"	"0"	"c.801del"	"r.(?)"	"p.(Asp268Ilefs*5)"	"6"
"0000948336"	"00007280"	"70"	"1563"	"0"	"1563"	"0"	"c.1563G>C"	"r.(?)"	"p.(Gln521His)"	""
"0000948337"	"00007280"	"90"	"1694"	"0"	"1694"	"0"	"c.1694del"	"r.(?)"	"p.(Ala565Valfs*23)"	""
"0000963197"	"00007280"	"50"	"1075"	"0"	"1075"	"0"	"c.1075G>A"	"r.(?)"	"p.(Asp359Asn)"	""
"0000963198"	"00007280"	"30"	"1127"	"0"	"1127"	"0"	"c.1127C>T"	"r.(?)"	"p.(Ala376Val)"	""
"0000963202"	"00007280"	"50"	"2227"	"0"	"2227"	"0"	"c.2227G>A"	"r.(?)"	"p.(Ala743Thr)"	""
"0000976322"	"00007280"	"30"	"8"	"0"	"8"	"0"	"c.8G>C"	"r.(?)"	"p.(Arg3Pro)"	""
"0000976323"	"00007280"	"50"	"89"	"0"	"89"	"0"	"c.89C>T"	"r.(?)"	"p.(Pro30Leu)"	""
"0000976327"	"00007280"	"30"	"1696"	"0"	"1696"	"0"	"c.1696G>A"	"r.(?)"	"p.(Ala566Thr)"	""
"0000994357"	"00007280"	"50"	"587"	"0"	"587"	"0"	"c.587A>G"	"r.(?)"	"p.(Asn196Ser)"	""
"0000994358"	"00007280"	"50"	"613"	"0"	"613"	"0"	"c.613G>A"	"r.(?)"	"p.(Glu205Lys)"	""
"0000994360"	"00007280"	"30"	"628"	"0"	"628"	"0"	"c.628G>A"	"r.(?)"	"p.(Asp210Asn)"	""
"0000994361"	"00007280"	"50"	"682"	"0"	"682"	"0"	"c.682C>G"	"r.(?)"	"p.(Leu228Val)"	""
"0000994364"	"00007280"	"70"	"873"	"0"	"873"	"0"	"c.873dup"	"r.(?)"	"p.(Glu292Ter)"	""
"0000994365"	"00007280"	"90"	"904"	"0"	"906"	"0"	"c.904_906del"	"r.(?)"	"p.(Lys302del)"	""
"0000994366"	"00007280"	"30"	"982"	"0"	"982"	"0"	"c.982C>T"	"r.(?)"	"p.(Leu328Phe)"	""
"0000994367"	"00007280"	"30"	"1119"	"0"	"1119"	"0"	"c.1119G>A"	"r.(?)"	"p.(Met373Ile)"	""
"0000994368"	"00007280"	"30"	"1246"	"0"	"1246"	"0"	"c.1246C>T"	"r.(?)"	"p.(Arg416Trp)"	""
"0000994369"	"00007280"	"50"	"1523"	"0"	"1523"	"0"	"c.1523A>G"	"r.(?)"	"p.(Glu508Gly)"	""
"0000994370"	"00007280"	"50"	"1940"	"0"	"1940"	"0"	"c.1940G>A"	"r.(?)"	"p.(Arg647Gln)"	""
"0000994371"	"00007280"	"50"	"1964"	"0"	"1964"	"0"	"c.1964C>T"	"r.(?)"	"p.(Ala655Val)"	""
"0001034608"	"00007280"	"70"	"-2913"	"0"	"-2913"	"0"	"c.-2913dup"	"r.(?)"	"p.(=)"	""
"0001034609"	"00007280"	"30"	"-2885"	"0"	"-2885"	"0"	"c.-2885G>A"	"r.(?)"	"p.(=)"	""
"0001034613"	"00007280"	"10"	"780"	"0"	"780"	"0"	"c.780G>A"	"r.(?)"	"p.(=)"	""
"0001034615"	"00007280"	"30"	"1500"	"0"	"1500"	"0"	"c.1500G>A"	"r.(?)"	"p.(Met500Ile)"	""
"0001034616"	"00007280"	"50"	"1563"	"1744"	"1563"	"1744"	"c.1563+1744C>T"	"r.(=)"	"p.(=)"	""
"0001034619"	"00007280"	"50"	"1667"	"0"	"1667"	"0"	"c.1667A>T"	"r.(?)"	"p.(Tyr556Phe)"	""
"0001034621"	"00007280"	"50"	"2144"	"0"	"2144"	"0"	"c.2144A>G"	"r.(?)"	"p.(Gln715Arg)"	""
"0001034622"	"00007280"	"10"	"2505"	"0"	"2505"	"0"	"c.2505G>A"	"r.(?)"	"p.(=)"	""
"0001034623"	"00007280"	"50"	"2689"	"-3"	"2689"	"-3"	"c.2689-3C>T"	"r.spl?"	"p.?"	""
"0001034624"	"00007280"	"30"	"2869"	"0"	"2869"	"0"	"c.2869G>A"	"r.(?)"	"p.(Gly957Arg)"	""
"0001034625"	"00007280"	"30"	"2895"	"-8"	"2895"	"-4"	"c.2895-8_2895-4del"	"r.spl?"	"p.?"	""
"0001034626"	"00007280"	"50"	"2967"	"0"	"2969"	"0"	"c.2967_2969del"	"r.(?)"	"p.(Arg989del)"	""
"0001045959"	"00007280"	"50"	"455"	"0"	"455"	"0"	"c.455C>T"	"r.(?)"	"p.(Pro152Leu)"	""
"0001045960"	"00007280"	"50"	"823"	"0"	"823"	"0"	"c.823G>A"	"r.(?)"	"p.(Gly275Arg)"	""
"0001045961"	"00007280"	"30"	"1500"	"0"	"1500"	"0"	"c.1500G>A"	"r.(?)"	"p.(Met500Ile)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 131
"{{screeningid}}"	"{{variantid}}"
"0000058488"	"0000089069"
"0000294805"	"0000651494"
"0000300558"	"0000663275"
"0000306128"	"0000669816"
"0000308146"	"0000674988"
"0000308146"	"0000675112"
"0000308146"	"0000675113"
"0000308146"	"0000675115"
"0000308149"	"0000675138"
"0000308149"	"0000675141"
"0000308149"	"0000675142"
"0000308149"	"0000675143"
"0000308232"	"0000675120"
"0000308232"	"0000675121"
"0000308233"	"0000675122"
"0000308233"	"0000675123"
"0000308234"	"0000675124"
"0000308234"	"0000675125"
"0000308235"	"0000675126"
"0000308236"	"0000675127"
"0000308237"	"0000675128"
"0000308238"	"0000675129"
"0000308239"	"0000675130"
"0000308240"	"0000675131"
"0000308241"	"0000675132"
"0000308242"	"0000675133"
"0000308243"	"0000675134"
"0000308244"	"0000675135"
"0000308245"	"0000675136"
"0000308246"	"0000675137"
"0000308269"	"0000675165"
"0000308269"	"0000675166"
"0000327091"	"0000710724"
"0000327092"	"0000710725"
"0000327096"	"0000710729"
"0000327097"	"0000710730"
"0000327097"	"0000710789"
"0000327098"	"0000710731"
"0000327099"	"0000710732"
"0000327100"	"0000710733"
"0000327101"	"0000710734"
"0000327102"	"0000710735"
"0000327103"	"0000710736"
"0000327103"	"0000710790"
"0000327104"	"0000710737"
"0000327105"	"0000710738"
"0000327106"	"0000710739"
"0000327107"	"0000710740"
"0000327108"	"0000710741"
"0000327109"	"0000710742"
"0000327110"	"0000710743"
"0000327111"	"0000710744"
"0000327112"	"0000710745"
"0000327113"	"0000710746"
"0000327113"	"0000710791"
"0000327114"	"0000710747"
"0000327115"	"0000710748"
"0000327115"	"0000710792"
"0000327116"	"0000710749"
"0000327117"	"0000710750"
"0000327118"	"0000710751"
"0000327119"	"0000710752"
"0000327216"	"0000710904"
"0000327217"	"0000710905"
"0000327218"	"0000710906"
"0000327218"	"0000710934"
"0000327219"	"0000710907"
"0000327220"	"0000710908"
"0000327221"	"0000710909"
"0000327221"	"0000710935"
"0000327222"	"0000710910"
"0000327222"	"0000710936"
"0000327223"	"0000710911"
"0000327223"	"0000710937"
"0000327224"	"0000710912"
"0000327224"	"0000710938"
"0000327225"	"0000710913"
"0000327226"	"0000710914"
"0000327226"	"0000710939"
"0000327227"	"0000710915"
"0000327228"	"0000710916"
"0000327228"	"0000710940"
"0000327229"	"0000710917"
"0000327230"	"0000710918"
"0000327231"	"0000710919"
"0000327231"	"0000710941"
"0000327232"	"0000710920"
"0000327232"	"0000710942"
"0000327233"	"0000710921"
"0000327233"	"0000710943"
"0000327234"	"0000710922"
"0000327235"	"0000710923"
"0000327235"	"0000710944"
"0000327251"	"0000710949"
"0000327253"	"0000710951"
"0000327257"	"0000710955"
"0000327258"	"0000710956"
"0000327259"	"0000710957"
"0000327259"	"0000710998"
"0000327260"	"0000710958"
"0000327260"	"0000710999"
"0000327261"	"0000710959"
"0000327262"	"0000710960"
"0000327262"	"0000711000"
"0000327263"	"0000710961"
"0000327264"	"0000710962"
"0000327264"	"0000711001"
"0000327264"	"0000711003"
"0000327265"	"0000710963"
"0000327266"	"0000710964"
"0000327267"	"0000710965"
"0000327268"	"0000710966"
"0000327269"	"0000710967"
"0000327270"	"0000710968"
"0000327271"	"0000710969"
"0000327272"	"0000710970"
"0000327273"	"0000710971"
"0000327274"	"0000710972"
"0000327274"	"0000711002"
"0000332647"	"0000729929"
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