### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = POLR3A)
# 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}}"
"POLR3A"	"polymerase (RNA) III (DNA directed) polypeptide A, 155kDa"	"10"	"q22-q23"	"unknown"	"NG_029648.1"	"UD_130746967237"	""	"https://www.LOVD.nl/POLR3A"	""	"1"	"30074"	"11128"	"614258"	"1"	"1"	"1"	"1"	"Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project."	""	"g"	"https://databases.lovd.nl/shared/refseq/POLR3A_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2011-05-31 00:00:00"	"00006"	"2020-11-13 10:27:05"	"00000"	"2025-11-01 13:22:20"


## 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}}"
"00016516"	"POLR3A"	"polymerase (RNA) III (DNA directed) polypeptide A, 155kDa"	"001"	"NM_007055.3"	""	"NP_008986.2"	""	""	""	"-133"	"6502"	"4173"	"79789298"	"79734907"	""	"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"
"02696"	"HLD7"	"leukodystrophy, hypomyelinating, type 7 (HLD7)"	"AR"	"607694"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-01-15 19:28:31"
"04183"	"WDRTS"	"Wiedemann-Rautenstrauch syndrome"	"AR"	"264090"	""	""	""	"00006"	"2015-02-08 17:44:31"	"00006"	"2023-10-24 16:45:18"
"05104"	"-"	"neuropathy, peripheral"	""	""	""	""	""	"00006"	"2015-12-05 03:05:09"	""	""
"05523"	"HLD"	"leukodystrophy, hypomyelinating (HLD)"	""	""	""	""	""	"00006"	"2018-11-23 23:15:35"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 4
"{{geneid}}"	"{{diseaseid}}"
"POLR3A"	"00139"
"POLR3A"	"02696"
"POLR3A"	"04183"
"POLR3A"	"05523"


## Individuals ## Do not remove or alter this header ##
## Count = 181
"{{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}}"
"00107928"	""	""	""	"1"	""	"00006"	"{PMID:Saitsu 2011:22036171}"	""	"M"	""	""	""	"0"	""	""	""	""
"00144619"	""	""	""	"1"	""	"01807"	""	""	"M"	""	"(Germany)"	""	"0"	""	""	""	""
"00151388"	""	""	""	"1"	""	"01807"	""	""	"M"	""	"(Germany)"	""	"0"	""	""	""	""
"00207537"	""	""	""	"1"	""	"00006"	"{PMID:Paolacci 2017:28447407}, {PMID:Paolacci 2018:30323018}"	""	"F"	""	"Italy"	""	"0"	""	""	"white"	"WRS001"
"00207538"	""	""	""	"1"	""	"00006"	"{PMID:Rautenstrauch 1977:319005}, {PMID:Paolacci 2018:30323018}"	"consanguineous parents (fourth degree cousins)"	"F"	"yes"	"Brazil"	""	"0"	""	""	""	"WRS002"
"00207539"	""	""	""	"1"	""	"00006"	"{PMID:Paolacci 2018:30323018}"	""	""	""	"Germany"	""	"0"	""	""	""	"FamWRS003"
"00207540"	""	""	""	"3"	""	"00006"	"{PMID:Akawi 2013:23696134}, {PMID:Paolacci 2018:30323018}"	"family, 3 affected sibs"	""	""	"United Arab Emirates"	""	"0"	""	""	""	"Pat2;WRS004"
"00207541"	""	""	""	"2"	""	"00006"	"{PMID:Paolacci 2017:28447407}, {PMID:Paolacci 2018:30323018}"	""	""	""	"Italy"	""	"0"	""	""	""	"FamWRS005"
"00207542"	""	""	""	"2"	""	"00006"	"{PMID:Arboleda 1997:9152846}, {PMID:Paolacci 2018:30323018}"	"family, 2 affected sibs"	""	""	"Colombia"	""	"0"	""	""	""	"Pat1/2;FamWRS006"
"00207543"	""	""	""	"1"	""	"00006"	"{PMID:Morales 2009:19938095}, {PMID:Paolacci 2018:30323018}"	""	""	""	"Colombia"	""	"0"	""	""	""	"Pat1;WRS007"
"00207544"	""	""	""	"1"	""	"00006"	"{PMID:Morales 2009:19938095}, {PMID:Paolacci 2018:30323018}"	""	""	""	"Colombia"	""	"0"	""	""	""	"Pat2;WRS008"
"00207545"	""	""	""	"1"	""	"00006"	"{PMID:Morales 2009:19938095}, {PMID:Paolacci 2018:30323018}"	""	""	""	"Colombia"	""	"0"	""	""	""	"Pat3;WRS009"
"00207546"	""	""	""	"3"	""	"00006"	"{PMID:Arboleda 2011: 21671373}, {PMID:Paolacci 2018:30323018}"	"family, 3 affected sibs"	""	""	"Colombia"	""	"0"	""	""	""	"FamWRS010"
"00207547"	""	""	""	"1"	""	"00006"	"{PMID:Paolacci 2018:30323018}"	""	""	""	"Colombia"	""	"0"	""	""	""	"FamWRS011"
"00207548"	""	""	""	"1"	""	"00006"	"{PMID:Paolacci 2017:28447407}, {PMID:Paolacci 2018:30323018}"	""	""	""	"Italy"	""	"0"	""	""	""	"FamWRS012"
"00207552"	""	""	"00207540"	"1"	""	"00006"	"{PMID:Paolacci 2018:30323018}"	"father of WRS004"	"M"	""	"United Arab Emirates"	""	"0"	""	""	""	"FamWRS004f"
"00207553"	""	""	""	"1"	""	"00006"	"{PMID:Bernard 2011:21855841}"	""	"M"	""	"Canada"	""	"0"	""	""	"French Canadian"	"21855841-FamIPat1"
"00207554"	""	""	""	"3"	""	"00006"	"{PMID:Bernard 2011:21855841}"	"family, 3 affcted (F, 2M)"	"M"	"yes"	"Canada"	""	"0"	""	""	"French Canadian"	"21855842-FamIIPat2"
"00207555"	""	""	"00207554"	"1"	""	"00006"	"{PMID:Bernard 2011:21855841}"	""	"M"	"yes"	"Canada"	""	"0"	""	""	"French Canadian"	"21855842-FamIIPat3"
"00207556"	""	""	"00207554"	"1"	""	"00006"	"{PMID:Bernard 2011:21855841}"	""	"F"	"yes"	"Canada"	"21y"	"0"	""	""	"French Canadian"	"21855842-FamIIPat4"
"00207557"	""	""	""	"1"	""	"00006"	"{PMID:Bernard 2011:21855841}"	""	"M"	""	"Canada"	""	"0"	""	""	"French Canadian"	"21855842-FamIIIPat5"
"00207558"	""	""	""	"1"	""	"00006"	"{PMID:Bernard 2011:21855841}"	""	"F"	""	"Canada"	""	"0"	""	""	"French Canadian"	"21855843-FamIVPat6"
"00207559"	""	""	""	"1"	""	"00006"	"{PMID:Bernard 2011:21855841}"	""	"F"	""	"United States"	""	"0"	""	""	"white"	"21855844-FamVPat7"
"00207560"	""	""	""	"1"	""	"00006"	"{PMID:Bernard 2011:21855841}"	""	"F"	""	"United States"	""	"0"	""	""	"African American"	"21855844-FamVIPat8"
"00207561"	""	""	""	"1"	""	"00006"	"{PMID:Bernard 2011:21855841}"	""	"M"	""	"United States"	"36y"	"0"	""	""	"white"	"21855844-FamVIIPat9"
"00207562"	""	""	""	"1"	""	"00006"	"{PMID:Bernard 2011:21855841}"	""	"F"	""	"United States"	""	"0"	""	""	"white"	"21855844-FamVIIIPat10"
"00207563"	""	""	""	"1"	""	"00006"	"{PMID:Bernard 2011:21855841}"	""	"F"	""	"France"	""	"0"	""	""	""	"21855844-FamIXPat11"
"00207564"	""	""	""	"6"	""	"00006"	"{PMID:Chouery 2011:20721593}, {PMID:Bernard 2011:21855841}"	"6-generation family, 6 affected (3F, 3M)"	"M"	"yes"	"Syria"	"28y"	"0"	""	""	""	"21855844-FamXPat12"
"00207565"	""	""	"00207564"	"1"	""	"00006"	"{PMID:Chouery 2011:20721593}, {PMID:Bernard 2011:21855841}"	""	"F"	"yes"	"Syria"	""	"0"	""	""	""	"21855845-FamXPat13"
"00207566"	""	""	"00207564"	"1"	""	"00006"	"{PMID:Chouery 2011:20721593}, {PMID:Bernard 2011:21855841}"	""	"F"	"yes"	"Syria"	""	"0"	""	""	""	"21855846-FamXPat14"
"00207567"	""	""	"00207564"	"1"	""	"00006"	"{PMID:Chouery 2011:20721593}, {PMID:Bernard 2011:21855841}"	""	"F"	"yes"	"Syria"	""	"0"	""	""	""	"21855847-FamXPat15"
"00207568"	""	""	"00207564"	"1"	""	"00006"	"{PMID:Chouery 2011:20721593}, {PMID:Bernard 2011:21855841}"	""	"M"	"yes"	"Syria"	""	"0"	""	""	""	"21855848-FamXPat16"
"00207569"	""	""	"00207564"	"1"	""	"00006"	"{PMID:Chouery 2011:20721593}, {PMID:Bernard 2011:21855841}"	""	"M"	"yes"	"Syria"	""	"0"	""	""	""	"21855849-FamXPat17"
"00207570"	""	""	""	"1"	""	"00006"	"{PMID:Bernard 2011:21855841}"	""	"F"	""	""	""	"0"	""	""	"white, Europe"	"21855850-FamXIPat18"
"00207571"	""	""	""	"1"	""	"00006"	"{PMID:Bernard 2011:21855841}"	""	"M"	""	"Guatemala"	""	"0"	""	""	""	"21855850-FamXIIPat19"
"00290148"	""	""	""	"13"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00290149"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00302810"	""	""	""	"1"	""	"00006"	"{PMID:Khalifa 2015:26096995}, comment {PMID:Thiffault 2016:27535217}"	""	"F"	""	"Egypt"	""	"0"	""	""	""	"patient"
"00307122"	""	""	""	"1"	""	"01807"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00319994"	""	""	""	"1"	""	"03841"	""	""	""	"no"	"Japan"	""	""	""	""	""	""
"00326825"	""	""	""	"2"	""	"00006"	"{PMID:Daoud 2013:23355746}"	"family, 2 affected"	""	""	""	""	"0"	""	""	""	"4H-15"
"00326829"	""	""	""	"1"	""	"00006"	"{PMID:Daoud 2013:23355746}"	""	""	"no"	""	""	"0"	""	""	"white"	"4H-19"
"00326830"	""	""	"00326825"	"1"	""	"00006"	"{PMID:Daoud 2013:23355746}"	""	""	""	""	""	"0"	""	""	""	"4H-16"
"00326831"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"no"	""	""	"0"	""	""	""	"4H-42"
"00326832"	""	""	""	"2"	""	"00006"	"{PMID:Daoud 2013:23355746}"	"family, 2 affected"	""	"yes"	""	""	"0"	""	""	"Mediterranean"	"4H-18"
"00326833"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"no"	""	""	"0"	""	""	"Mediterranean"	"4H-41"
"00326834"	""	""	""	"1"	""	"00006"	"{PMID:Daoud 2013:23355746}"	""	""	"no"	""	""	"0"	""	""	"white"	"4H-20"
"00326836"	""	""	"00326832"	"1"	""	"00006"	"{PMID:Daoud 2013:23355746}"	""	""	"yes"	""	""	"0"	""	""	"Mediterranean"	"4H-17"
"00326837"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"no"	""	""	"0"	""	""	"Hispanic"	"4H-32"
"00326840"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2005:15851747}"	""	""	"no"	""	""	"0"	""	""	"Europe-Central"	"4H-48"
"00326843"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"no"	""	""	"0"	""	""	"white"	"4H-30"
"00326845"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"no"	""	""	"0"	""	""	"white"	"4H-31"
"00326846"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"no"	""	""	"0"	""	""	"white"	"4H-33"
"00326849"	""	""	""	"1"	""	"00006"	"{PMID:Daoud 2013:23355746}"	""	""	"no"	"Malaysia"	""	"0"	""	""	"white"	"4H-21"
"00326855"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"no"	""	""	"0"	""	""	"Mediterranean"	"4H-66"
"00326856"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"no"	""	""	"0"	""	""	""	"4H-43"
"00326857"	""	""	""	"1"	""	"00006"	"{PMID:Daoud 2013:23355746}"	""	""	"no"	""	""	"0"	""	""	"Hispanic"	"4H-22"
"00326872"	""	""	""	"1"	""	"00006"	"{PMID:Timmons 2006:17159124}"	""	""	"no"	""	""	"0"	""	""	"Europe-West"	"4H-46"
"00326880"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"no"	""	""	"0"	""	""	"Mediterranean"	"4H-67"
"00326885"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"no"	""	""	"0"	""	""	"Europe-Central"	"4H-90"
"00326888"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2007:17712733}"	""	""	"no"	""	""	"0"	""	""	"Mediterranean"	"4H-75"
"00326889"	""	""	""	"1"	""	"00006"	"{PMID:Vazquez-Lopez 2008:18671210}"	""	""	"yes"	""	""	"0"	""	""	"Mediterranean"	"4H-77"
"00326890"	""	""	""	"2"	""	"00006"	"{PMID:Wolf 2014:25339210}"	"family, 2 affected"	""	"no"	""	""	"0"	""	""	"white"	"4H-79"
"00326892"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"no"	""	""	"0"	""	""	""	"4H-36"
"00326893"	""	""	"00326890"	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"no"	""	""	"0"	""	""	"white"	"4H-80"
"00326898"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"no"	""	""	"0"	""	""	"Europe-West"	"4H-85"
"00326899"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"no"	""	""	"0"	""	""	"Europe-West"	"4H-86"
"00326902"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"no"	""	""	"0"	""	""	"Mediterranean"	"4H-89"
"00326903"	""	""	""	"2"	""	"00006"	"{PMID:Bekiesinska-Figatowska 2010:19700253}"	"family, 2 affected"	""	"yes"	""	""	"0"	""	""	"Mediterranean"	"4H-91"
"00326905"	""	""	"00326903"	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"yes"	""	""	"0"	""	""	"Mediterranean"	"4H-92"
"00326906"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"no"	""	""	"0"	""	""	"Mediterranean"	"4H-97"
"00326910"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"no"	""	""	"0"	""	""	"Mediterranean"	"4H-100"
"00326912"	""	""	""	"1"	""	"00006"	"{PMID:Potic 2012:22451160}"	""	""	"no"	""	""	"0"	""	""	"Europe-SouthEast"	"4H-11"
"00374309"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"R-1349"
"00438804"	""	""	""	"1"	""	"00006"	"{PMID:Mirchi 2023:37197783}"	""	"M"	""	"Canada"	""	"0"	""	""	""	"Pat1"
"00438805"	""	""	""	"1"	""	"00006"	"{PMID:Mirchi 2023:37197783}"	""	"M"	""	"Canada"	""	"0"	""	""	""	"Pat2"
"00438806"	""	""	""	"1"	""	"00006"	"{PMID:Mirchi 2023:37197783}"	""	"M"	""	"Canada"	""	"0"	""	""	""	"Pat3"
"00438807"	""	""	""	"1"	""	"00006"	"{PMID:Mirchi 2023:37197783}"	""	"F"	""	"Canada"	""	"0"	""	""	""	"Pat4"
"00438808"	""	""	""	"1"	""	"00006"	"{PMID:Mirchi 2023:37197783}"	""	"M"	""	"Canada"	""	"0"	""	""	""	"Pat5"
"00438809"	""	""	""	"1"	""	"00006"	"{PMID:Mirchi 2023:37197783}"	""	"M"	""	"Canada"	""	"0"	""	""	""	"Pat6"
"00438810"	""	""	""	"1"	""	"00006"	"{PMID:Mirchi 2023:37197783}"	""	"M"	""	"Canada"	""	"0"	""	""	""	"Pat7"
"00438811"	""	""	""	"1"	""	"00006"	"{PMID:Mirchi 2023:37197783}"	""	"M"	""	"Canada"	""	"0"	""	""	""	"Pat8"
"00438812"	""	""	""	"1"	""	"00006"	"{PMID:Mirchi 2023:37197783}"	""	"F"	""	"Canada"	""	"0"	""	""	""	"Pat9"
"00438813"	""	""	""	"1"	""	"00006"	"{PMID:Mirchi 2023:37197783}"	""	"M"	""	"Canada"	""	"0"	""	""	""	"Pat10"
"00438814"	""	""	""	"1"	""	"00006"	"{PMID:Mirchi 2023:37197783}"	""	"M"	""	"Canada"	""	"0"	""	""	""	"Pat11"
"00438815"	""	""	""	"1"	""	"00006"	"{PMID:Mirchi 2023:37197783}"	""	"F"	""	"Canada"	""	"0"	""	""	""	"Pat12"
"00438816"	""	""	""	"1"	""	"00006"	"{PMID:Mirchi 2023:37197783}"	""	"F"	""	"Canada"	""	"0"	""	""	""	"Pat13"
"00438817"	""	""	""	"1"	""	"00006"	"{PMID:Mirchi 2023:37197783}"	""	"M"	""	"Canada"	""	"0"	""	""	""	"Pat14"
"00438818"	""	""	""	"1"	""	"00006"	"{PMID:Mirchi 2023:37197783}"	""	"M"	""	"Canada"	""	"0"	""	""	""	"Pat15"
"00438819"	""	""	""	"1"	""	"00006"	"{PMID:Mirchi 2023:37197783}"	""	"M"	""	"Canada"	""	"0"	""	""	""	"Pat16"
"00438834"	""	""	""	"1"	""	"00006"	"{PMID:Mirchi 2023:37197783}"	""	"M"	""	"Canada"	""	"0"	""	""	""	"Pat31"
"00438837"	""	""	""	"1"	""	"00006"	"{PMID:Yazidi 2019:30838315}"	""	"F"	""	"Canada"	""	"0"	""	""	""	"Pat3"
"00438838"	""	""	""	"1"	""	"00006"	"{PMID:Yazidi 2019:30838315}"	""	"F"	""	"Canada"	""	"0"	""	""	""	"Pat4"
"00438840"	""	""	""	"1"	""	"00006"	"{PMID:Yazidi 2019:30838315}"	""	"M"	""	"Canada"	""	"0"	""	""	""	"Pat6"
"00438842"	""	""	""	"1"	""	"00006"	"{PMID:Yazidi 2019:30838315}"	""	"M"	""	"Canada"	""	"0"	""	""	""	"Pat8"
"00438843"	""	""	""	"1"	""	"00006"	"{PMID:Yazidi 2019:30838315}"	""	"M"	""	"Canada"	""	"0"	""	""	""	"Pat9"
"00438845"	""	""	""	"1"	""	"00006"	"{PMID:Yazidi 2019:30838315}"	""	"F"	""	"Canada"	""	"0"	""	""	""	"Pat11"
"00438848"	""	""	""	"1"	""	"00006"	"{PMID:Yazidi 2019:30838315}"	""	"F"	""	"Canada"	""	"0"	""	""	""	"Pat14"
"00438849"	""	""	""	"1"	""	"00006"	"{PMID:Yazidi 2019:30838315}"	""	"M"	""	"Canada"	""	"0"	""	""	""	"Pat15"
"00438850"	""	""	""	"1"	""	"00006"	"{PMID:Yazidi 2019:30838315}"	""	"F"	""	"Canada"	""	"0"	""	""	""	"Pat16"
"00438851"	""	""	""	"1"	""	"00006"	"{PMID:Yazidi 2019:30838315}"	""	"M"	""	"Canada"	""	"0"	""	""	""	"Pat17"
"00438852"	""	""	""	"1"	""	"00006"	"{PMID:Yazidi 2019:30838315}"	""	"M"	""	"Canada"	""	"0"	""	""	""	"Pat18"
"00438853"	""	""	""	"1"	""	"00006"	"{PMID:Yazidi 2019:30838315}"	""	"M"	""	"Canada"	""	"0"	""	""	""	"Pat19"
"00438855"	""	""	""	"1"	""	"00006"	"{PMID:Perrier 2020:32582862}"	""	""	""	"Canada"	""	"0"	""	""	""	"Pat1"
"00438856"	""	""	""	"1"	""	"00006"	"{PMID:Perrier 2020:32582862}"	""	""	""	"Canada"	""	"0"	""	""	""	"Pat2"
"00438857"	""	""	""	"1"	""	"00006"	"{PMID:Perrier 2020:32582862}"	""	""	""	"Canada"	""	"0"	""	""	""	"Pat3"
"00438858"	""	""	""	"1"	""	"00006"	"{PMID:Perrier 2020:32582862}"	""	""	""	"Canada"	""	"0"	""	""	""	"Pat4"
"00438859"	""	""	""	"1"	""	"00006"	"{PMID:Perrier 2020:32582862}"	""	""	""	"Canada"	""	"0"	""	""	""	"Pat5"
"00438860"	""	""	""	"1"	""	"00006"	"{PMID:Perrier 2020:32582862}"	""	""	""	"Canada"	""	"0"	""	""	""	"Pat6"
"00438861"	""	""	""	"1"	""	"00006"	"{PMID:La Piana 2016:27029625}"	"2-generation family, 1 affected, unaffected non-carrier parents"	""	""	""	""	"0"	""	""	""	"FamIPat1"
"00438862"	""	""	""	"1"	""	"00006"	"{PMID:La Piana 2016:27029625}"	"2-generation family, 1 affected, unaffected non-carrier parents"	""	""	""	""	"0"	""	""	""	"FamIIPat2"
"00438863"	""	""	""	"1"	""	"00006"	"{PMID:La Piana 2016:27029625}"	"2-generation family, 1 affected, unaffected non-carrier parents"	""	""	""	""	"0"	""	""	""	"FamIIIPat3"
"00438865"	""	""	""	"2"	""	"00006"	"{PMID:La Piana 2016:27029625}"	"2-generation family, 2 affected, unaffected non-carrier parents"	""	""	""	""	"0"	""	""	""	"FamVPat5"
"00438866"	""	""	"00438865"	"1"	""	"00006"	"{PMID:La Piana 2016:27029625}"	"relative"	""	""	""	""	"0"	""	""	""	"FamVPat6"
"00438868"	""	""	""	"1"	""	"00006"	"{PMID:La Piana 2016:27029625}"	"2-generation family, 1 affected, unaffected non-carrier parents"	""	""	""	""	"0"	""	""	""	"FamVIIPat8"
"00438869"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"no"	"Canada"	""	"0"	""	""	"France"	"4H-Fam1Pat1"
"00438870"	""	""	""	"3"	""	"00006"	"{PMID:Wolf 2014:25339210}"	"family, 3 affected"	""	"yes"	"Canada"	""	"0"	""	""	"France"	"4H-Fam2Pat2"
"00438871"	""	""	"00438870"	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	"relative"	""	"yes"	"Canada"	""	"0"	""	""	"France"	"4H-Fam2Pat3"
"00438872"	""	""	"00438870"	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	"relative"	""	"yes"	"Canada"	""	"0"	""	""	"France"	"4H-Fam2Pat4"
"00438873"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	""	"Canada"	""	"0"	""	""	"France"	"4H-Fam3Pat5"
"00438874"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"yes"	"Canada"	""	"0"	""	""	"France"	"4H-Fam4Pat6"
"00438875"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"no"	""	""	"0"	""	""	"white"	"4H-Fam5Pat7"
"00438876"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"no"	""	""	"0"	""	""	"African-American"	"4H-Fam6Pat8"
"00438877"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"no"	""	""	"0"	""	""	"white"	"4H-Fam7Pat9"
"00438878"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"no"	""	""	"0"	""	""	"white"	"4H-Fam8Pat10"
"00438879"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"no"	""	""	"0"	""	""	"Europe-SE"	"4H-Fam9Pat11"
"00438883"	""	""	""	"2"	""	"00006"	"{PMID:Wolf 2014:25339210}"	"family, 2 affected"	""	""	"Canada"	""	"0"	""	""	"France"	"4H-Fam13Pat15"
"00438884"	""	""	""	"115"	""	"00006"	"{PMID:Wolf 2014:25339210}"	"relative"	""	""	"Canada"	""	"0"	""	""	"France"	"4H-Fam13Pat16"
"00438885"	""	""	""	"2"	""	"00006"	"{PMID:Wolf 2014:25339210}"	"family, 2 affected"	""	"yes"	""	""	"0"	""	""	"Mediterranean"	"4H-Fam14Pat17"
"00438886"	""	""	""	"117"	""	"00006"	"{PMID:Wolf 2014:25339210}"	"relative"	""	"yes"	""	""	"0"	""	""	"Mediterranean"	"4H-Fam14Pat18"
"00438887"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"no"	""	""	"0"	""	""	"white"	"4H-Fam15Pat19"
"00438888"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"no"	""	""	"0"	""	""	"white"	"4H-Fam16Pat20"
"00438889"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"no"	""	""	"0"	""	""	"Malaysia;white"	"4H-Fam17Pat21"
"00438890"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"no"	""	""	"0"	""	""	"Hispanic"	"4H-Fam18Pat22"
"00438898"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"no"	""	""	"0"	""	""	"white"	"4H-Fam26Pat30"
"00438899"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"no"	""	""	"0"	""	""	"white"	"4H-Fam27Pat31"
"00438900"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"no"	""	""	"0"	""	""	"Hispanic"	"4H-Fam28Pat32"
"00438901"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"no"	""	""	"0"	""	""	"white"	"4H-Fam29Pat33"
"00438904"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"no"	""	""	"0"	""	""	""	"4H-Fam32Pat36"
"00438909"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"no"	""	""	"0"	""	""	"Mediterranean"	"4H-Fam36Pat41"
"00438910"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"no"	"Canada"	""	"0"	""	""	"France"	"4H-Fam37Pat42"
"00438911"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"no"	"Canada"	""	"0"	""	""	"France"	"4H-Fam38Pat43"
"00438914"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"no"	""	""	"0"	""	""	"Europe-W"	"4H-Fam40Pat46"
"00438916"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"no"	""	""	"0"	""	""	"Europe-C"	"4H-Fam42Pat48"
"00438934"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"no"	""	""	"0"	""	""	"Mediterranean"	"4H-Fam58Pat66"
"00438935"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"no"	""	""	"0"	""	""	"Mediterranean"	"4H-Fam59Pat67"
"00438943"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"no"	""	""	"0"	""	""	"Mediterranean"	"4H-Fam66Pat75"
"00438945"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"yes"	""	""	"0"	""	""	"Mediterranean"	"4H-Fam68Pat77"
"00438947"	""	""	""	"2"	""	"00006"	"{PMID:Wolf 2014:25339210}"	"family, 2 affected"	""	"no"	""	""	"0"	""	""	"white"	"4H-Fam70Pat79"
"00438948"	""	""	"00438947"	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	"relative"	""	"no"	""	""	"0"	""	""	"white"	"4H-Fam70Pat80"
"00438953"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"no"	""	""	"0"	""	""	"Europe-W"	"4H-Fam75Pat85"
"00438954"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"no"	""	""	"0"	""	""	"Europe-W"	"4H-Fam76Pat86"
"00438957"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"no"	""	""	"0"	""	""	"Mediterranean"	"4H-Fam78Pat89"
"00438958"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"no"	""	""	"0"	""	""	"Europe-C"	"4H-Fam79Pat90"
"00438959"	""	""	""	"2"	""	"00006"	"{PMID:Wolf 2014:25339210}"	"family, 2 affected"	""	"yes"	""	""	"0"	""	""	"Mediterranean"	"4H-Fam80Pat91"
"00438960"	""	""	"00438959"	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	"relative"	""	"yes"	""	""	"0"	""	""	"Mediterranean"	"4H-Fam80Pat92"
"00438965"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"no"	""	""	"0"	""	""	"Mediterranean"	"4H-Fam85Pat97"
"00438968"	""	""	""	"1"	""	"00006"	"{PMID:Wolf 2014:25339210}"	""	""	"no"	""	""	"0"	""	""	"Mediterranean"	"4H-Fam88Pat100"
"00438974"	""	""	""	"1"	""	"00006"	"{PMID:Harting 2020:31940116}"	""	"F"	"no"	"Netherlands"	""	"0"	""	""	""	"Pat1"
"00438975"	""	""	""	"1"	""	"00006"	"{PMID:Harting 2020:31940116}"	""	"F"	"no"	"Netherlands"	""	"0"	""	""	""	"Pat2"
"00438976"	""	""	""	"1"	""	"00006"	"{PMID:Harting 2020:31940116}"	""	"F"	"no"	"Netherlands"	""	"0"	""	""	""	"Pat3"
"00438977"	""	""	""	"1"	""	"00006"	"{PMID:Harting 2020:31940116}"	""	"M"	"no"	"Netherlands"	""	"0"	""	""	""	"Pat4"
"00438978"	""	""	""	"1"	""	"00006"	"{PMID:Harting 2020:31940116}"	""	"F"	"no"	"Netherlands"	""	"0"	""	""	""	"Pat5"
"00438979"	""	""	""	"1"	""	"00006"	"{PMID:Harting 2020:31940116}"	""	"M"	"no"	"Netherlands"	""	"0"	""	""	""	"Pat6"
"00438980"	""	""	""	"2"	""	"00006"	"{PMID:Harting 2020:31940116}"	"family, 2 affected brothers"	"M"	"yes"	"Netherlands"	""	"0"	""	""	"Turkey"	"Pat7"
"00438981"	""	""	"00438980"	"1"	""	"00006"	"{PMID:Harting 2020:31940116}"	"older brother"	"M"	"yes"	"Netherlands"	""	"0"	""	""	"Turkey"	"Pat8"
"00438982"	""	""	""	"1"	""	"00006"	"{PMID:Harting 2020:31940116}"	""	"F"	"no"	"Netherlands"	""	"0"	""	""	""	"Pat9"
"00455778"	""	""	""	"1"	""	"00006"	"{PMID:Salinas 2020:33084218}"	"patient"	"F"	""	""	""	"0"	""	""	""	"Pat18"
"00464296"	""	""	""	"2"	""	"04409"	""	""	"F"	"no"	"China"	""	""	""	""	"Chinese"	"R095"
"00464300"	""	""	""	"1"	""	"04409"	""	""	"M"	"no"	"China"	""	""	""	""	"Chinese"	"R146"
"00466591"	""	""	""	"3"	""	"00006"	"{DOI:Ramos 2025:10.1101/2025.07.16.25331559}"	"2-generation family, affected parent /2 children"	""	""	"Belgium"	""	"0"	""	""	""	"FamAPatI1"
"00466592"	""	""	"00466591"	"1"	""	"00006"	"{DOI:Ramos 2025:10.1101/2025.07.16.25331559}"	"child"	""	""	"Belgium"	""	"0"	""	""	""	"FamAPatII1"
"00466593"	""	""	"00466591"	"1"	""	"00006"	"{DOI:Ramos 2025:10.1101/2025.07.16.25331559}"	"child"	""	""	"Belgium"	""	"0"	""	""	""	"FamAPatII2"
"00466594"	""	""	""	"1"	""	"00006"	"{DOI:Ramos 2025:10.1101/2025.07.16.25331559}"	"2-generation family, 1 affected, unaffected non-carrier parents"	""	""	""	""	"0"	""	""	""	"FamB"
"00466595"	""	""	""	"1"	""	"00006"	"{DOI:Ramos 2025:10.1101/2025.07.16.25331559}"	"2-generation family, 1 affected, unaffected non-carrier parents"	""	""	""	""	"0"	""	""	""	"FamC"
"00466596"	""	""	""	"1"	""	"00006"	"{DOI:Ramos 2025:10.1101/2025.07.16.25331559}"	"2-generation family, 1 affected, unaffected non-carrier parents"	""	""	""	""	"0"	""	""	""	"FamD"
"00466597"	""	""	""	"1"	""	"00006"	"{DOI:Ramos 2025:10.1101/2025.07.16.25331559}"	"2-generation family, 1 affected, unaffected non-carrier parents"	""	""	""	""	"0"	""	""	""	"FamE"
"00466598"	""	""	""	"2"	""	"00006"	"{DOI:Ramos 2025:10.1101/2025.07.16.25331559}"	"2-generation family, affected parent/child"	""	""	"United States"	""	"0"	""	""	""	"FamFPatI1"
"00466599"	""	""	"00466598"	"1"	""	"00006"	"{DOI:Ramos 2025:10.1101/2025.07.16.25331559}"	"child"	""	""	"United States"	""	"0"	""	""	""	"FamFPatII1"
"00466600"	""	""	""	"1"	""	"00006"	"{DOI:Ramos 2025:10.1101/2025.07.16.25331559}"	"2-generation family, 1 affected, unaffected non-carrier parents"	""	""	"Australia"	""	"0"	""	""	""	"FamG"
"00466601"	""	""	""	"1"	""	"00006"	"{DOI:Ramos 2025:10.1101/2025.07.16.25331559}"	"2-generation family, 1 affected, unaffected non-carrier parents"	""	""	""	""	"0"	""	""	""	"FamH"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 181
"{{individualid}}"	"{{diseaseid}}"
"00107928"	"02696"
"00144619"	"00198"
"00151388"	"00198"
"00207537"	"04183"
"00207538"	"04183"
"00207539"	"04183"
"00207540"	"04183"
"00207541"	"04183"
"00207542"	"04183"
"00207543"	"04183"
"00207544"	"04183"
"00207545"	"04183"
"00207546"	"04183"
"00207547"	"04183"
"00207548"	"04183"
"00207552"	"00000"
"00207553"	"05523"
"00207554"	"05523"
"00207555"	"05523"
"00207556"	"05523"
"00207557"	"05523"
"00207558"	"05523"
"00207559"	"05523"
"00207560"	"05523"
"00207561"	"05523"
"00207562"	"05523"
"00207563"	"05523"
"00207564"	"05523"
"00207565"	"05523"
"00207566"	"05523"
"00207567"	"05523"
"00207568"	"05523"
"00207569"	"05523"
"00207570"	"05523"
"00207571"	"05523"
"00290148"	"00198"
"00290149"	"00198"
"00302810"	"00198"
"00307122"	"00198"
"00319994"	"02696"
"00326825"	"05523"
"00326829"	"05523"
"00326830"	"05523"
"00326831"	"05523"
"00326832"	"05523"
"00326833"	"05523"
"00326834"	"05523"
"00326836"	"05523"
"00326837"	"05523"
"00326840"	"05523"
"00326843"	"05523"
"00326845"	"05523"
"00326846"	"05523"
"00326849"	"05523"
"00326855"	"05523"
"00326856"	"05523"
"00326857"	"05523"
"00326872"	"05523"
"00326880"	"05523"
"00326885"	"05523"
"00326888"	"05523"
"00326889"	"05523"
"00326890"	"05523"
"00326892"	"05523"
"00326893"	"05523"
"00326898"	"05523"
"00326899"	"05523"
"00326902"	"05523"
"00326903"	"05523"
"00326905"	"05523"
"00326906"	"05523"
"00326910"	"05523"
"00326912"	"05523"
"00374309"	"00198"
"00438804"	"05523"
"00438805"	"05523"
"00438806"	"05523"
"00438807"	"05523"
"00438808"	"05523"
"00438809"	"05523"
"00438810"	"05523"
"00438811"	"05523"
"00438812"	"05523"
"00438813"	"05523"
"00438814"	"05523"
"00438815"	"05523"
"00438816"	"05523"
"00438817"	"05523"
"00438818"	"05523"
"00438819"	"05523"
"00438834"	"05523"
"00438837"	"05523"
"00438838"	"05523"
"00438840"	"05523"
"00438842"	"05523"
"00438843"	"05523"
"00438845"	"05523"
"00438848"	"05523"
"00438849"	"05523"
"00438850"	"05523"
"00438851"	"05523"
"00438852"	"05523"
"00438853"	"05523"
"00438855"	"05523"
"00438856"	"05523"
"00438857"	"05523"
"00438858"	"05523"
"00438859"	"05523"
"00438860"	"05523"
"00438861"	"05523"
"00438862"	"05523"
"00438863"	"05523"
"00438865"	"05523"
"00438866"	"05523"
"00438868"	"05523"
"00438869"	"05523"
"00438870"	"05523"
"00438871"	"05523"
"00438872"	"05523"
"00438873"	"05523"
"00438874"	"05523"
"00438875"	"05523"
"00438876"	"05523"
"00438877"	"05523"
"00438878"	"05523"
"00438879"	"05523"
"00438883"	"05523"
"00438884"	"05523"
"00438885"	"05523"
"00438886"	"05523"
"00438887"	"05523"
"00438888"	"05523"
"00438889"	"05523"
"00438890"	"05523"
"00438898"	"05523"
"00438899"	"05523"
"00438900"	"05523"
"00438901"	"05523"
"00438904"	"05523"
"00438909"	"05523"
"00438910"	"05523"
"00438911"	"05523"
"00438914"	"05523"
"00438916"	"05523"
"00438934"	"05523"
"00438935"	"05523"
"00438943"	"05523"
"00438945"	"05523"
"00438947"	"05523"
"00438948"	"05523"
"00438953"	"05523"
"00438954"	"05523"
"00438957"	"05523"
"00438958"	"05523"
"00438959"	"05523"
"00438960"	"05523"
"00438965"	"05523"
"00438968"	"05523"
"00438974"	"00198"
"00438975"	"00198"
"00438976"	"00198"
"00438977"	"00198"
"00438978"	"00198"
"00438979"	"00198"
"00438980"	"00198"
"00438981"	"00198"
"00438982"	"00198"
"00455778"	"00198"
"00464296"	"00139"
"00464300"	"00139"
"00466591"	"05104"
"00466592"	"05104"
"00466593"	"05104"
"00466594"	"05104"
"00466595"	"05104"
"00466596"	"05104"
"00466597"	"05104"
"00466598"	"05104"
"00466599"	"05104"
"00466600"	"05104"
"00466601"	"05104"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 02696, 04183, 05104, 05523
## Count = 178
"{{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}}"
"0000085674"	"02696"	"00107928"	"00006"	"Familial, autosomal recessive"	""	"Diffuse cerebral hypomyelination with cerebellar atrophy, hypoplasia of corpus callosum; HCAHC"	""	""	""	""	""	""	""	""	""	""	""
"0000117360"	"00198"	"00144619"	"01807"	"Unknown"	""	"Intellectual disability (HP:0001249); Dystonia (HP:0001332); Dysarthria (HP:0001260); Parkinsonism (HP:0001300)"	""	""	""	""	""	""	""	""	""	""	""
"0000123782"	"00198"	"00151388"	"01807"	"Unknown"	""	"Dystonia (HP:0001332); Dysarthria (HP:0001260); Gait ataxia (HP:0002066); Mild global developmental delay (HP:0011342)"	""	""	""	""	""	""	""	""	""	""	""
"0000155315"	"04183"	"00207537"	"00006"	"Familial, autosomal recessive"	""	"see paper; …"	""	""	""	""	""	""	""	""	""	"Wiedemann-Rautenstrauch syndrome"	""
"0000155316"	"04183"	"00207538"	"00006"	"Familial, autosomal recessive"	""	"see paper; …"	""	""	""	""	""	""	""	""	""	"Wiedemann-Rautenstrauch syndrome"	""
"0000155317"	"04183"	"00207539"	"00006"	"Familial, autosomal recessive"	""	"see paper; …"	""	""	""	""	""	""	""	""	""	"Wiedemann-Rautenstrauch syndrome"	""
"0000155318"	"04183"	"00207540"	"00006"	"Familial, autosomal recessive"	""	"see paper; …"	""	""	""	""	""	""	""	""	""	"Wiedemann-Rautenstrauch syndrome"	""
"0000155319"	"04183"	"00207541"	"00006"	"Familial, autosomal recessive"	""	"see paper; …"	""	""	""	""	""	""	""	""	""	"Wiedemann-Rautenstrauch syndrome"	""
"0000155320"	"04183"	"00207542"	"00006"	"Unknown"	""	"see paper; …"	""	""	""	""	""	""	""	""	""	"Wiedemann-Rautenstrauch syndrome"	""
"0000155321"	"04183"	"00207543"	"00006"	"Unknown"	""	"see paper; …"	""	""	""	""	""	""	""	""	""	"Wiedemann-Rautenstrauch syndrome"	""
"0000155322"	"04183"	"00207544"	"00006"	"Familial, autosomal recessive"	""	"see paper; …"	""	""	""	""	""	""	""	""	""	"Wiedemann-Rautenstrauch syndrome"	""
"0000155323"	"04183"	"00207545"	"00006"	"Familial, autosomal recessive"	""	"see paper; …"	""	""	""	""	""	""	""	""	""	"Wiedemann-Rautenstrauch syndrome"	""
"0000155324"	"04183"	"00207546"	"00006"	"Unknown"	""	"see paper; …"	""	""	""	""	""	""	""	""	""	"Wiedemann-Rautenstrauch syndrome"	""
"0000155325"	"04183"	"00207547"	"00006"	"Unknown"	""	"see paper; …"	""	""	""	""	""	""	""	""	""	"Wiedemann-Rautenstrauch syndrome"	""
"0000155326"	"04183"	"00207548"	"00006"	"Familial, autosomal recessive"	""	"see paper; …"	""	""	""	""	""	""	""	""	""	"Wiedemann-Rautenstrauch syndrome"	""
"0000155328"	"05523"	"00207553"	"00006"	"Familial, autosomal recessive"	""	"developmental delay; cognitive regression; no seizures; no optic atrophy; gaze-evoked nystagmus; abnormal smooth pursuits; no vertical gaze limitation; no dysphagia; no hypersalivation; upper motor neuron signs; tremor; cerebellar signs; 5y wheelchair bound; no hypodontia; no hypogonadotropic hypogonadism;"	"2y"	""	""	""	""	""	""	""	"HLD-7"	"tremor-ataxia with central hypomyelination (TACH)"	""
"0000155329"	"05523"	"00207554"	"00006"	"Familial, autosomal recessive"	""	"developmental delay; cognitive regression; seizures; optic atrophy; gaze-evoked nystagmus; abnormal smooth pursuits; vertical gaze limitation; dysphagia; hypersalivation; upper motor neuron signs; tremor; cerebellar signs; 8y wheelchair bound; hypodontia; no hypogonadotropic hypogonadism;"	"1y"	""	""	""	""	""	""	""	"HLD-7"	"tremor-ataxia with central hypomyelination (TACH)"	""
"0000155330"	"05523"	"00207555"	"00006"	"Familial, autosomal recessive"	""	"developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; abnormal smooth pursuits; no vertical gaze limitation; no dysphagia; no hypersalivation; upper motor neuron signs; tremor; cerebellar signs; not wheelchair bound; hypodontia; no hypogonadotropic hypogonadism;"	"5y"	""	""	""	""	""	""	""	"HLD-7"	"tremor-ataxia with central hypomyelination (TACH)"	""
"0000155331"	"05523"	"00207556"	"00006"	"Familial, autosomal recessive"	""	"no developmental delay; cognitive regression; no seizures; optic atrophy; no gaze-evoked nystagmus; abnormal smooth pursuits; no vertical gaze limitation; dysphagia; hypersalivation; upper motor neuron signs; tremor; cerebellar signs; 8y wheelchair bound; no hypodontia; no hypogonadotropic hypogonadism; no nerve biopsy"	"3y"	""	""	""	""	""	""	""	"HLD-7"	"tremor-ataxia with central hypomyelination (TACH)"	""
"0000155332"	"05523"	"00207557"	"00006"	"Familial, autosomal recessive"	""	"no developmental delay; cognitive regression; no seizures; optic atrophy; gaze-evoked nystagmus; abnormal smooth pursuits; vertical gaze limitation; dysphagia; hypersalivation; upper motor neuron signs; tremor; cerebellar signs; 12y wheelchair bound; no hypodontia; hypogonadotropic hypogonadism; no nerve biopsy"	"3y"	""	""	""	""	""	""	""	"HLD-7"	"tremor-ataxia with central hypomyelination (TACH)"	""
"0000155333"	"05523"	"00207558"	"00006"	"Familial, autosomal recessive"	""	"no developmental delay; cognitive regression; no seizures; optic atrophy; no gaze-evoked nystagmus; abnormal smooth pursuits; no vertical gaze limitation; no dysphagia; hypersalivation; upper motor neuron signs; tremor; cerebellar signs; not wheelchair bound; no hypodontia; hypogonadotropic hypogonadism;"	"5y"	""	""	""	""	""	""	""	"HLD-7"	"tremor-ataxia with central hypomyelination (TACH)"	""
"0000155334"	"05523"	"00207559"	"00006"	"Familial, autosomal recessive"	""	"no developmental delay; cognitive regression; ?seizures; no optic atrophy; no gaze-evoked nystagmus; abnormal smooth pursuits; vertical gaze limitation; dysphagia; hypersalivation; upper motor neuron signs; no tremor; cerebellar signs; 24y wheelchair bound; hypodontia; hypogonadotropic hypogonadism; nerve biopsy"	"13y"	""	""	""	""	""	""	""	"HLD-7"	"hypomyelination with hypodontia and hypogonadotropic hypogonadism (4H) syndrome"	""
"0000155335"	"05523"	"00207560"	"00006"	"Familial, autosomal recessive"	""	"developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; abnormal smooth pursuits; vertical gaze limitation; dysphagia; hypersalivation; upper motor neuron signs; no tremor; cerebellar signs; 10y wheelchair bound; hypodontia; hypogonadotropic hypogonadism;"	"0y"	""	""	""	""	""	""	""	"HLD-7"	"hypomyelination with hypodontia and hypogonadotropic hypogonadism (4H) syndrome"	""
"0000155336"	"05523"	"00207561"	"00006"	"Familial, autosomal recessive"	""	"no developmental delay; cognitive regression; ?seizures; no optic atrophy; no gaze-evoked nystagmus; abnormal smooth pursuits; vertical gaze limitation; dysphagia; no hypersalivation; upper motor neuron signs; no tremor; cerebellar signs; 30y wheelchair bound; hypodontia; hypogonadotropic hypogonadism; nerve biopsy"	"13y"	""	""	""	""	""	""	""	"HLD-7"	"hypomyelination with hypodontia and hypogonadotropic hypogonadism (4H) syndrome"	""
"0000155337"	"05523"	"00207562"	"00006"	"Familial, autosomal recessive"	""	"no developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; abnormal smooth pursuits; vertical gaze limitation; dysphagia; no hypersalivation; upper motor neuron signs; no tremor; cerebellar signs; 24y wheelchair bound; hypodontia; hypogonadotropic hypogonadism; nerve biopsy"	"12y"	""	""	""	""	""	""	""	"HLD-7"	"hypomyelination with hypodontia and hypogonadotropic hypogonadism (4H) syndrome"	""
"0000155338"	"05523"	"00207563"	"00006"	"Familial, autosomal recessive"	""	"developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; abnormal smooth pursuits; no vertical gaze limitation; no dysphagia; no hypersalivation; upper motor neuron signs; tremor; cerebellar signs; not wheelchair bound; hypodontia; hypogonadotropic hypogonadism;"	"1y"	""	""	""	""	""	""	""	"HLD-7"	"hypomyelination with hypodontia and hypogonadotropic hypogonadism (4H) syndrome"	""
"0000155339"	"05523"	"00207564"	"00006"	"Familial, autosomal recessive"	""	"no developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; no abnormal smooth pursuits; no vertical gaze limitation; no dysphagia; no hypersalivation; upper motor neuron signs; no tremor; cerebellar signs; 23y wheelchair bound; hypodontia; no hypogonadotropic hypogonadism;"	"13y"	""	""	""	""	""	""	""	"HLD-7"	"leukodystrophy with oligodontia (LO)"	""
"0000155340"	"05523"	"00207565"	"00006"	"Familial, autosomal recessive"	""	"no developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; no abnormal smooth pursuits; no vertical gaze limitation; no dysphagia; no hypersalivation; upper motor neuron signs; tremor; cerebellar signs; 20y wheelchair bound; hypodontia; no hypogonadotropic hypogonadism;"	"12y"	""	""	""	""	""	""	""	"HLD-7"	"leukodystrophy with oligodontia (LO)"	""
"0000155341"	"05523"	"00207566"	"00006"	"Familial, autosomal recessive"	""	"no developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; no abnormal smooth pursuits; no vertical gaze limitation; no dysphagia; no hypersalivation; upper motor neuron signs; tremor; cerebellar signs; 20y wheelchair bound; hypodontia; no hypogonadotropic hypogonadism;"	"11y"	""	""	""	""	""	""	""	"HLD-7"	"leukodystrophy with oligodontia (LO)"	""
"0000155342"	"05523"	"00207567"	"00006"	"Familial, autosomal recessive"	""	"no developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; no abnormal smooth pursuits; no vertical gaze limitation; no dysphagia; no hypersalivation; upper motor neuron signs; no tremor; cerebellar signs; not wheelchair bound; hypodontia; no hypogonadotropic hypogonadism;"	"11y"	""	""	""	""	""	""	""	"HLD-7"	"leukodystrophy with oligodontia (LO)"	""
"0000155343"	"05523"	"00207568"	"00006"	"Familial, autosomal recessive"	""	"no developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; no abnormal smooth pursuits; no vertical gaze limitation; no dysphagia; no hypersalivation; upper motor neuron signs; no tremor; cerebellar signs; not wheelchair bound; hypodontia; no hypogonadotropic hypogonadism;"	"12y"	""	""	""	""	""	""	""	"HLD-7"	"leukodystrophy with oligodontia (LO)"	""
"0000155344"	"05523"	"00207569"	"00006"	"Familial, autosomal recessive"	""	"no developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; no abnormal smooth pursuits; no vertical gaze limitation; no dysphagia; no hypersalivation; upper motor neuron signs; no tremor; cerebellar signs; not wheelchair bound; hypodontia; no hypogonadotropic hypogonadism;"	"12y"	""	""	""	""	""	""	""	"HLD-7"	"leukodystrophy with oligodontia (LO)"	""
"0000155345"	"05523"	"00207570"	"00006"	"Familial, autosomal recessive"	""	"developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; abnormal smooth pursuits; no vertical gaze limitation; no dysphagia; no hypersalivation; upper motor neuron signs; tremor; cerebellar signs; not wheelchair bound; hypodontia; no hypogonadotropic hypogonadism; no nerve biopsy"	"3y"	""	""	""	""	""	""	""	"HLD-7"	"leukodystrophy with oligodontia (LO)"	""
"0000155346"	"05523"	"00207571"	"00006"	"Familial, autosomal recessive"	""	"developmental delay; cognitive regression; no seizures; no optic atrophy; no gaze-evoked nystagmus; abnormal smooth pursuits; vertical gaze limitation; no dysphagia; hypersalivation; upper motor neuron signs; tremor; cerebellar signs; 9y wheelchair bound; hypodontia"	"2y"	""	""	""	""	""	""	""	"HLD-7"	"leukodystrophy with oligodontia (LO)"	""
"0000229892"	"00198"	"00302810"	"00006"	"Unknown"	"11y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"developmental delay"	""
"0000232927"	"00198"	"00307122"	"01807"	"Unknown"	""	"Ataxia (HP:0001251); Dysarthria (HP:0001260); Gait ataxia (HP:0002066); Hand tremor (HP:0002378)"	""	""	""	""	""	""	""	""	""	""	""
"0000242039"	"02696"	"00319994"	"03841"	"Familial, autosomal recessive"	"39y"	""	""	""	""	""	""	""	""	""	""	""	""
"0000245288"	"05523"	"00326825"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"4H leukodystrophy"	""
"0000245292"	"05523"	"00326829"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"4H leukodystrophy"	""
"0000245293"	"05523"	"00326830"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"4H leukodystrophy"	""
"0000245294"	"05523"	"00326831"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"4H leukodystrophy"	""
"0000245295"	"05523"	"00326832"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"4H leukodystrophy"	""
"0000245296"	"05523"	"00326833"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"4H leukodystrophy"	""
"0000245297"	"05523"	"00326834"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"4H leukodystrophy"	""
"0000245299"	"05523"	"00326836"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"4H leukodystrophy"	""
"0000245300"	"05523"	"00326837"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"4H leukodystrophy"	""
"0000245303"	"05523"	"00326840"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"4H leukodystrophy"	""
"0000245306"	"05523"	"00326843"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"4H leukodystrophy"	""
"0000245308"	"05523"	"00326845"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"4H leukodystrophy"	""
"0000245309"	"05523"	"00326846"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"4H leukodystrophy"	""
"0000245312"	"05523"	"00326849"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"4H leukodystrophy"	""
"0000245318"	"05523"	"00326855"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"4H leukodystrophy"	""
"0000245319"	"05523"	"00326856"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"4H leukodystrophy"	""
"0000245320"	"05523"	"00326857"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"4H leukodystrophy"	""
"0000245335"	"05523"	"00326872"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"4H leukodystrophy"	""
"0000245343"	"05523"	"00326880"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"4H leukodystrophy"	""
"0000245348"	"05523"	"00326885"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"4H leukodystrophy"	""
"0000245351"	"05523"	"00326888"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"4H leukodystrophy"	""
"0000245352"	"05523"	"00326889"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"4H leukodystrophy"	""
"0000245353"	"05523"	"00326890"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"4H leukodystrophy"	""
"0000245355"	"05523"	"00326892"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"4H leukodystrophy"	""
"0000245356"	"05523"	"00326893"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"4H leukodystrophy"	""
"0000245361"	"05523"	"00326898"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"4H leukodystrophy"	""
"0000245362"	"05523"	"00326899"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"4H leukodystrophy"	""
"0000245365"	"05523"	"00326902"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"4H leukodystrophy"	""
"0000245366"	"05523"	"00326903"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"4H leukodystrophy"	""
"0000245368"	"05523"	"00326905"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"4H leukodystrophy"	""
"0000245369"	"05523"	"00326906"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"4H leukodystrophy"	""
"0000245373"	"05523"	"00326910"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"4H leukodystrophy"	""
"0000245375"	"05523"	"00326912"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"4H leukodystrophy"	""
"0000269519"	"00198"	"00374309"	"00006"	"Familial, autosomal recessive"	""	"Neuroregression, frequent falls, slurred speech, cognitive decline, drooling and mild cerebral atrophy"	""	""	""	""	""	""	""	""	""	"developmental delay"	""
"0000328702"	"05523"	"00438804"	"00006"	"Familial, autosomal recessive"	""	"hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; high anterior hairline; hypertelorism; telecanthus; long palpebral fissures; short philtrum; smooth philtrum; pointed chin; large mouth, bilateral syndactyly 2-3 toes"	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328703"	"05523"	"00438805"	"00006"	"Familial, autosomal recessive"	""	"hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; bitemporal narrowing; hypertelorism; long palpebral fissures; flat midface; pinched nose; thin upper lip"	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328704"	"05523"	"00438806"	"00006"	"Familial, autosomal recessive"	""	"hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; flat midface; pinched nose; short philtrum; pointed chin"	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328705"	"05523"	"00438807"	"00006"	"Familial, autosomal recessive"	""	"hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; hypertelorism; low-set ears; pointed chin; chin dimple"	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328706"	"05523"	"00438808"	"00006"	"Familial, autosomal recessive"	""	"hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; long palpebral fissures; low-set ears; flat midface; bulbous tip of the nose; short philtrum; pointed chin"	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328707"	"05523"	"00438809"	"00006"	"Familial, autosomal recessive"	""	"hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; high anterior hairline; high forehead; flat midface; pinched nose; bulbous tip of the nose; short chin; sparing of lateral eyebrows"	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328708"	"05523"	"00438810"	"00006"	"Familial, autosomal recessive"	""	"hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; high anterior hairline; high forehead; hypertelorism; flat midface; short philtrum; short chin; upturned nose"	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328709"	"05523"	"00438811"	"00006"	"Familial, autosomal recessive"	""	"hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; flat midface; smooth philtrum; pointed chin"	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328710"	"05523"	"00438812"	"00006"	"Familial, autosomal recessive"	""	"hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; high anterior hairline; high forehead; flat midface; smooth philtrum; full lower lip; deviating nasal root, retrognathia"	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328711"	"05523"	"00438813"	"00006"	"Familial, autosomal recessive"	""	"hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; bitemporal narrowing; hypertelorism; short philtrum; short chin; short neck"	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328712"	"05523"	"00438814"	"00006"	"Familial, autosomal recessive"	""	"hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; high anterior hairline; high forehead; pinched nose; short philtrum; pointed chin; triangular face"	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328713"	"05523"	"00438815"	"00006"	"Familial, autosomal recessive"	""	"hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; flat midface; bulbous tip of the nose; smooth philtrum; pointed chin"	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328714"	"05523"	"00438816"	"00006"	"Familial, autosomal recessive"	""	"hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; high anterior hairline; pinched nose; smooth philtrum; pointed chin; ptosis, bifid tip of the nose"	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328715"	"05523"	"00438817"	"00006"	"Familial, autosomal recessive"	""	"hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; high anterior hairline; high forehead; bitemporal narrowing; flat midface; smooth philtrum; ptosis, downslanting palpebral fissure, mildly overfoled helixes, prognatism"	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328716"	"05523"	"00438818"	"00006"	"Familial, autosomal recessive"	""	"hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; flat midface; pinched nose; short philtrum; thin upper lip; full lower lip; hypotelorism, broad nasal tip, low-hanging columella"	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328717"	"05523"	"00438819"	"00006"	"Familial, autosomal recessive"	""	"hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; high anterior hairline; high forehead; hypertelorism; smooth philtrum; full lower lip; pointed chin; sparce medial eyebrows, broad nasal bridge"	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328732"	"05523"	"00438834"	"00006"	"Familial, autosomal recessive"	""	"hypomyelinating leukodystrophy, neurological dysfunction, hypodontia, hypogonadotropic hypogonadism; high anterior hairline; high forehead; low-set ears; flat midface; bulbous tip of the nose; smooth philtrum; pointed chin; epicanthal fold"	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328735"	"05523"	"00438837"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328736"	"05523"	"00438838"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328738"	"05523"	"00438840"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328740"	"05523"	"00438842"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328741"	"05523"	"00438843"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328743"	"05523"	"00438845"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328746"	"05523"	"00438848"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328747"	"05523"	"00438849"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328748"	"05523"	"00438850"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328749"	"05523"	"00438851"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328750"	"05523"	"00438852"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328751"	"05523"	"00438853"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328753"	"05523"	"00438855"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328754"	"05523"	"00438856"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328755"	"05523"	"00438857"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328756"	"05523"	"00438858"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328757"	"05523"	"00438859"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328758"	"05523"	"00438860"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328759"	"05523"	"00438861"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., ataxia or other cerebellar signs, hypodontia or dental anomalies, short stature; MRI brain abnormal signal posterior limb internal capsule"	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328760"	"05523"	"00438862"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., ataxia or other cerebellar signs, hypodontia or dental anomalies, developmental delay, spasticity; MRI brain abnormal signal posterior limb internal capsule"	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328761"	"05523"	"00438863"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., ataxia or other cerebellar signs, hypodontia or dental anomalies, developmental delay, spasticity; MRI brain abnormal signal posterior limb internal capsule"	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328763"	"05523"	"00438865"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., ataxia or other cerebellar signs, myopia, developmental delay, spasticity; MRI brain cerebellar atrophy"	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328764"	"05523"	"00438866"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., ataxia or other cerebellar signs, myopia, developmental delay, spasticity; MRI brain cerebellar atrophy"	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328766"	"05523"	"00438868"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., ataxia or other cerebellar signs, hypodontia or dental anomalies; MRI brain abnormal signal posterior limb internal capsule"	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328767"	"05523"	"00438869"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328768"	"05523"	"00438870"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328769"	"05523"	"00438871"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328770"	"05523"	"00438872"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328771"	"05523"	"00438873"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328772"	"05523"	"00438874"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328773"	"05523"	"00438875"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328774"	"05523"	"00438876"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328775"	"05523"	"00438877"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328776"	"05523"	"00438878"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328777"	"05523"	"00438879"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328781"	"05523"	"00438883"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328782"	"05523"	"00438884"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328783"	"05523"	"00438885"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328784"	"05523"	"00438886"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328785"	"05523"	"00438887"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328786"	"05523"	"00438888"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328787"	"05523"	"00438889"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328788"	"05523"	"00438890"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328796"	"05523"	"00438898"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328797"	"05523"	"00438899"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328798"	"05523"	"00438900"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328799"	"05523"	"00438901"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328802"	"05523"	"00438904"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328807"	"05523"	"00438909"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328808"	"05523"	"00438910"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328809"	"05523"	"00438911"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328812"	"05523"	"00438914"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328814"	"05523"	"00438916"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328832"	"05523"	"00438934"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328833"	"05523"	"00438935"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328841"	"05523"	"00438943"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328843"	"05523"	"00438945"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328845"	"05523"	"00438947"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328846"	"05523"	"00438948"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328851"	"05523"	"00438953"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328852"	"05523"	"00438954"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328855"	"05523"	"00438957"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328856"	"05523"	"00438958"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328857"	"05523"	"00438959"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328858"	"05523"	"00438960"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328863"	"05523"	"00438965"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328866"	"05523"	"00438968"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"HLD7"	"hypomyelinating leukodystrophy"	""
"0000328872"	"00198"	"00438974"	"00006"	"Familial, autosomal recessive"	"2y"	"see paper; ..., no smiling, failure to thrive; axial hypotonia; suboptimal head balance; no intentional movements; no pyramidal signs; extrapyramidal signs, choreic movements and opisthotonus; saccadic pursuit; some head balance; mild swallowing problems; no speech; severe global delay; epilepsy, 15m-myoclonic jerks; lack of maxillary incisors; failure to thrive; OFC normal"	"2m"	""	""	""	""	""	""	""	""	"movement disorder"	""
"0000328873"	"00198"	"00438975"	"00006"	"Familial, autosomal recessive"	"2y"	"see paper; ..., no crying, absent visual contact; axial hypotonia (if relaxed), severe opisthotonus in agitated episodes; 2m-suboptimal head balance,4m-no head balance; no intentional movements; pyramidal signs; extrapyramidal signs, choreic movements; no fixation; some head balance; severe swallowing problems; no speech; severe global delay assumed; no epilepsy; delayed dentition, deciduous molars first teeth to erupt; failure to thrive; OFC normal; laboured breathing"	"2d"	""	""	""	""	""	""	""	""	"movement disorder"	""
"0000328874"	"00198"	"00438976"	"00006"	"Familial, autosomal recessive"	"1y9m"	"see paper; ..., abnormal movements, restlessness; severe axial hypotonia; suboptimal head balance; no ataxia; no pyramidal signs; extrapyramidal signs, choreic movements and opisthotonus; short periods of fixation; some head balance, tries to reach for objects; severe swallowing problems (nasogastric tube); no speech; severe global delay; no epilepsy; lack of maxillary incisors; failure to thrive; OFC normal; hearing abnormal brainstem evoked acoustic responses; prone to respiratory tract infections; bacterial meningitis"	"2d"	""	""	""	""	""	""	""	""	"movement disorder"	""
"0000328875"	"00198"	"00438977"	"00006"	"Familial, autosomal recessive"	"7y"	"see paper; ..., global developmental delay, poor facial expression; no axial hypotonia; 3m-suboptimal head balance; ataxia; pyramidal signs; extrapyramidal signs, dystonia, bradykinesia; normal eye movements; walks with posterior walker, manages to walk 20 steps without support; swallowing problems, especially with liquids (prone to aspiration); delayed speech (uses about 20 words, difficult to understand); cognition seems normal; no epilepsy; delayed eruption of maxillary incisors; failure to thrive; OFC normal; no myopia; hearing normal brainstem evoked acoustic responses"	"<1y"	""	""	""	""	""	""	""	""	"movement disorder"	""
"0000328876"	"00198"	"00438978"	"00006"	"Familial, autosomal recessive"	"7y"	"see paper; ..., mild motor delay; no axial hypotonia; normal head balance; mild gait ataxia; no pyramidal signs; no extrapyramidal signs; normal eye movements; walking without support; no swallowing problems; 4y-mild delay in language development, stutter; mild learning difficulties; no epilepsy; normal dentition; normal growth; OFC normal; mild myopia; no hearing loss"	"2y"	""	""	""	""	""	""	""	""	"movement disorder"	""
"0000328877"	"00198"	"00438979"	"00006"	"Familial, autosomal recessive"	"6y"	"see paper; ..., abnormal gait; mild axial hypotonia; normal head balance; ataxia; pyramidal signs; extrapyramidal signs, dystonia; saccadic pursuits, hypometric saccades; walking without support; no swallowing problems; speech delay, dysarthria; cognition seems normal; no epilepsy; normal dentition; OFC normal; no myopia; no hearing loss"	"13m"	""	""	""	""	""	""	""	""	"movement disorder"	""
"0000328878"	"00198"	"00438980"	"00006"	"Familial, autosomal recessive"	"22y"	"see paper; ..., psychomotor retardation; no axial hypotonia; normal head balance; no ataxia; no pyramidal signs; severe extrapyramidal signs, compatible with parkinsonism, no tremor; saccadic pursuit; walking without support; no swallowing problems; severe dysarthria; learning disability; no epilepsy; normal dentition; normal puberty; very low weight due to inadequate intake; OFC normal; no myopia; no hearing loss"	"4y"	""	""	""	""	""	""	""	""	"movement disorder"	""
"0000328879"	"00198"	"00438981"	"00006"	"Familial, autosomal recessive"	"26y"	"see paper; ..., mild delay language acquisition; no axial hypotonia; normal head balance; no ataxia; no pyramidal signs; severe extrapyramidal signs, compatible with parkinsonism, (rubral) tremor (3/s), increasing with action; saccadic pursuit, hypometric saccades; walking without support; severe dysphagia; 5y-language deterioration, now anarthric; learning disability; no epilepsy; first teeth to erupt maxillary incisors, 2 persisting decidual teeth; normal puberty; very low weight due to inadequate intake; OFC normal; no myopia; no hearing loss"	"2y"	""	""	""	""	""	""	""	""	"movement disorder"	""
"0000328880"	"00198"	"00438982"	"00006"	"Familial, autosomal recessive"	"29y"	"see paper; ..., abnormal gait, prone to falling; no axial hypotonia; normal head balance; head titubation; mild pyramidal signs (legs); extrapyramidal signs, (rubral) tremor (3/s), increasing with action, mild posturing; saccadic pursuit; 14m-walking without support, 12y-wheelchair dependent; swallowing problems; severe dysarthria; cognition normal; no epilepsy; molars first to erupt, 4y-incisors erupted; normal puberty; normal growth; OFC normal; mild myopia; no hearing loss"	"14m"	""	""	""	""	""	""	""	""	"movement disorder"	""
"0000344311"	"00198"	"00455778"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"HLD7"	"neurogenetic diseases"	""
"0000350372"	"00139"	"00464296"	"04409"	"Familial, autosomal recessive"	"00y11m"	"Developmental regression, mental retardation. She has a sister with developmental regression, cerebral hypoplasia, basal ganglia lesions, mental retardation, aspiration pneumonia, laryngeal oedema, atrial septal defect, and died from respiratory failure."	""	""	""	"luoxiaomei"	""	""	""	""	"mental retardation"	"mental retardation"	""
"0000350376"	"00139"	"00464300"	"04409"	"Familial, autosomal recessive"	"09y03m"	"Mental retardation, motor developmental delay, prone to fall when walking and running."	""	""	""	"Xinhua Hospital"	""	""	""	""	"mental retardation"	"mental retardation"	""
"0000351955"	"05104"	"00466591"	"00006"	"Unknown"	"70y-80y"	"see paper; ..., extra-peripheral nervous system manifestations; distal muscle weakness; areflexia/hyporeflexia; sensory loss; pess planus; walks (unstable); no central nervus system involvement"	"00y-05y"	""	"gait difficulty"	""	""	""	""	""	""	"peripheral neuropathy"	""
"0000351956"	"05104"	"00466592"	"00006"	"Familial, autosomal dominant"	"40y-50y"	"see paper; ..., extra-peripheral nervous system manifestations; distal muscle weakness; areflexia/hyporeflexia; sensory loss; pess planus; walks (unstable); no central nervus system involvement"	"00y-05y"	""	"gait difficulty"	""	""	""	""	""	""	"peripheral neuropathy"	""
"0000351957"	"05104"	"00466593"	"00006"	"Familial, autosomal dominant"	"40y-50y"	"see paper; ..., extra-peripheral nervous system manifestations; distal muscle weakness; areflexia/hyporeflexia; sensory loss; pess planus; walks (unstable); no central nervus system involvement"	"11y-15y"	""	"gait difficulty"	""	""	""	""	""	""	"peripheral neuropathy"	""
"0000351958"	"05104"	"00466594"	"00006"	"Isolated (sporadic)"	"30y-40y"	"see paper; ..., extra-peripheral nervous system manifestations; distal muscle weakness; areflexia/hyporeflexia; sensory loss; claw toes, claw hands; independent wheelchair transfers; no central nervus system involvement; abnormal teeth; demyelinating sensorimotor pattern"	"00y-05y"	""	"delayed walking"	""	""	""	""	""	""	"peripheral neuropathy"	""
"0000351959"	"05104"	"00466595"	"00006"	"Isolated (sporadic)"	"01y-10y"	"see paper; ..., extra-peripheral nervous system manifestations; distal muscle weakness; areflexia/hyporeflexia; pess planus; walks (unstable); ataxia; MRI brain normal; growth hormone deficiency; demyelinating sensorimotor pattern, secondary axonal degeneration"	"00y-05y"	""	"delayed unsupported sitting"	""	""	""	""	""	""	"peripheral neuropathy"	""
"0000351960"	"05104"	"00466596"	"00006"	"Isolated (sporadic)"	"11y-20y"	"see paper; ..., extra-peripheral nervous system manifestations; distal muscle weakness; areflexia/hyporeflexia; sensory loss; hammer toes, limitations on elbow,, knee flexion, ankle flexion; independent wheelchair transfers; intellectual disability; abnormal teeth"	"00y-05y"	""	"delayed walking"	""	""	""	""	""	""	"peripheral neuropathy"	""
"0000351961"	"05104"	"00466597"	"00006"	"Isolated (sporadic)"	"01y-10y"	"see paper; ..., extra-peripheral nervous system manifestations; distal muscle weakness; kyphosis; walks (unstable); intellectual disability, epilepsy (myoclonic and myoclonis-astatic); MRI brain normal; abnormal teeth"	"00y-05y"	""	"epilepsy"	""	""	""	""	""	""	"peripheral neuropathy"	""
"0000351962"	"05104"	"00466598"	"00006"	"Unknown"	"51y-16y"	"see paper; ..., extra-peripheral nervous system manifestations; distal muscle weakness; areflexia/hyporeflexia; sensory loss; pes planus, hammer toes; independent wheelchair transfers; no central nervus system involvement; MRI brain suggestive of chronic small vessel ischemic gliosis; short stature; absent lateral antebrachial cutaneous sensory nerve action potential, blink reflexes 19.2 msec"	"00y-05y"	""	"gait difficulty"	""	""	""	""	""	""	"peripheral neuropathy"	""
"0000351963"	"05104"	"00466599"	"00006"	"Familial, autosomal dominant"	"11y-20y"	"see paper; ..., extra-peripheral nervous system manifestations; distal muscle weakness; areflexia/hyporeflexia; sensory loss; pess planus; assisted walking; no central nervus system involvement; short stature"	"00y-05y"	""	"delayed walking"	""	""	""	""	""	""	"peripheral neuropathy"	""
"0000351964"	"05104"	"00466600"	"00006"	"Isolated (sporadic)"	"11y-20y"	"see paper; ..., extra-peripheral nervous system manifestations; distal muscle weakness; areflexia/hyporeflexia; sensory loss; bilateral cavo-varus feet requiring surgery; walks (unstable); no central nervus system involvement"	"00y-05y"	""	"delayed walking"	""	""	""	""	""	""	"peripheral neuropathy"	""
"0000351965"	"05104"	"00466601"	"00006"	"Isolated (sporadic)"	"21y-30y"	"see paper; ..., extra-peripheral nervous system manifestations; distal muscle weakness; areflexia/hyporeflexia; sensory loss; kyphoscolios, pectus carinatum; wheelchair bound; cerebellar atrophy; atxia"	"00y-05y"	""	"delayed walking"	""	""	""	""	""	""	"peripheral neuropathy"	""


## Screenings ## Do not remove or alter this header ##
## Count = 181
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000108397"	"00107928"	"1"	"00006"	"00002"	"2011-12-01 14:09:31"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000145476"	"00144619"	"0"	"01807"	"01807"	"2017-12-18 12:53:50"	""	""	"SEQ"	"DNA"	""	""
"0000152243"	"00151388"	"0"	"01807"	"01807"	"2018-01-15 20:24:32"	""	""	"SEQ"	"DNA"	""	""
"0000208576"	"00207537"	"1"	"00006"	"00006"	"2018-11-23 20:19:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000208577"	"00207538"	"1"	"00006"	"00006"	"2018-11-23 20:19:25"	"00006"	"2018-11-23 20:43:38"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000208578"	"00207539"	"1"	"00006"	"00006"	"2018-11-23 20:19:25"	""	""	"SEQ"	"DNA"	""	""
"0000208579"	"00207540"	"1"	"00006"	"00006"	"2018-11-23 20:19:25"	"00006"	"2018-11-23 20:48:22"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000208580"	"00207541"	"1"	"00006"	"00006"	"2018-11-23 20:19:25"	""	""	"SEQ"	"DNA"	""	""
"0000208581"	"00207542"	"1"	"00006"	"00006"	"2018-11-23 20:19:25"	""	""	"SEQ"	"DNA"	""	""
"0000208582"	"00207543"	"1"	"00006"	"00006"	"2018-11-23 20:19:25"	""	""	"SEQ"	"DNA"	""	""
"0000208583"	"00207544"	"1"	"00006"	"00006"	"2018-11-23 20:19:25"	""	""	"SEQ"	"DNA"	""	""
"0000208584"	"00207545"	"1"	"00006"	"00006"	"2018-11-23 20:19:25"	""	""	"SEQ"	"DNA"	""	""
"0000208585"	"00207546"	"1"	"00006"	"00006"	"2018-11-23 20:19:25"	""	""	"SEQ"	"DNA"	""	""
"0000208586"	"00207547"	"1"	"00006"	"00006"	"2018-11-23 20:19:25"	""	""	"SEQ"	"DNA"	""	""
"0000208587"	"00207548"	"1"	"00006"	"00006"	"2018-11-23 20:19:25"	""	""	"SEQ"	"DNA"	""	""
"0000208591"	"00207552"	"1"	"00006"	"00006"	"2018-11-23 21:08:18"	""	""	"SEQ"	"DNA"	""	""
"0000208592"	"00207553"	"1"	"00006"	"00006"	"2018-11-24 00:59:31"	""	""	"SEQ"	"DNA"	""	""
"0000208593"	"00207554"	"1"	"00006"	"00006"	"2018-11-24 00:59:31"	""	""	"SEQ"	"DNA"	""	""
"0000208594"	"00207555"	"1"	"00006"	"00006"	"2018-11-24 00:59:31"	""	""	"SEQ"	"DNA"	""	""
"0000208595"	"00207556"	"1"	"00006"	"00006"	"2018-11-24 00:59:31"	""	""	"SEQ"	"DNA"	""	""
"0000208596"	"00207557"	"1"	"00006"	"00006"	"2018-11-24 00:59:31"	""	""	"SEQ"	"DNA"	""	""
"0000208597"	"00207558"	"1"	"00006"	"00006"	"2018-11-24 00:59:31"	""	""	"SEQ"	"DNA"	""	""
"0000208598"	"00207559"	"1"	"00006"	"00006"	"2018-11-24 00:59:31"	""	""	"SEQ"	"DNA"	""	""
"0000208599"	"00207560"	"1"	"00006"	"00006"	"2018-11-24 00:59:31"	""	""	"SEQ"	"DNA"	""	""
"0000208600"	"00207561"	"1"	"00006"	"00006"	"2018-11-24 00:59:31"	""	""	"SEQ"	"DNA"	""	""
"0000208601"	"00207562"	"1"	"00006"	"00006"	"2018-11-24 00:59:31"	""	""	"SEQ"	"DNA"	""	""
"0000208602"	"00207563"	"1"	"00006"	"00006"	"2018-11-24 00:59:31"	""	""	"SEQ"	"DNA"	""	""
"0000208603"	"00207564"	"1"	"00006"	"00006"	"2018-11-24 00:59:31"	""	""	"SEQ"	"DNA"	""	""
"0000208604"	"00207565"	"1"	"00006"	"00006"	"2018-11-24 00:59:31"	""	""	"SEQ"	"DNA"	""	""
"0000208605"	"00207566"	"1"	"00006"	"00006"	"2018-11-24 00:59:31"	""	""	"SEQ"	"DNA"	""	""
"0000208606"	"00207567"	"1"	"00006"	"00006"	"2018-11-24 00:59:31"	""	""	"SEQ"	"DNA"	""	""
"0000208607"	"00207568"	"1"	"00006"	"00006"	"2018-11-24 00:59:31"	""	""	"SEQ"	"DNA"	""	""
"0000208608"	"00207569"	"1"	"00006"	"00006"	"2018-11-24 00:59:31"	""	""	"SEQ"	"DNA"	""	""
"0000208609"	"00207570"	"1"	"00006"	"00006"	"2018-11-24 00:59:31"	""	""	"SEQ"	"DNA"	""	""
"0000208610"	"00207571"	"1"	"00006"	"00006"	"2018-11-24 00:59:31"	""	""	"SEQ"	"DNA"	""	""
"0000291316"	"00290148"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000291317"	"00290149"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000303936"	"00302810"	"1"	"00006"	"00006"	"2020-06-01 13:05:28"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000308264"	"00307122"	"1"	"01807"	"01807"	"2020-08-03 09:33:02"	""	""	"SEQ"	"DNA"	""	""
"0000321174"	"00319994"	"1"	"03841"	"03841"	"2020-11-13 09:35:07"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000328038"	"00326825"	"1"	"00006"	"00006"	"2021-01-16 13:36:51"	""	""	"SEQ"	"DNA"	""	""
"0000328042"	"00326829"	"1"	"00006"	"00006"	"2021-01-16 13:36:51"	""	""	"SEQ"	"DNA"	""	""
"0000328043"	"00326830"	"1"	"00006"	"00006"	"2021-01-16 13:36:51"	""	""	"SEQ"	"DNA"	""	""
"0000328044"	"00326831"	"1"	"00006"	"00006"	"2021-01-16 13:36:51"	""	""	"SEQ"	"DNA"	""	""
"0000328045"	"00326832"	"1"	"00006"	"00006"	"2021-01-16 13:36:51"	""	""	"SEQ"	"DNA"	""	""
"0000328046"	"00326833"	"1"	"00006"	"00006"	"2021-01-16 13:36:51"	""	""	"SEQ"	"DNA"	""	""
"0000328047"	"00326834"	"1"	"00006"	"00006"	"2021-01-16 13:36:51"	""	""	"SEQ"	"DNA"	""	""
"0000328049"	"00326836"	"1"	"00006"	"00006"	"2021-01-16 13:36:51"	""	""	"SEQ"	"DNA"	""	""
"0000328050"	"00326837"	"1"	"00006"	"00006"	"2021-01-16 13:36:51"	""	""	"SEQ"	"DNA"	""	""
"0000328053"	"00326840"	"1"	"00006"	"00006"	"2021-01-16 13:36:51"	""	""	"SEQ"	"DNA"	""	""
"0000328056"	"00326843"	"1"	"00006"	"00006"	"2021-01-16 13:36:51"	""	""	"SEQ"	"DNA"	""	""
"0000328058"	"00326845"	"1"	"00006"	"00006"	"2021-01-16 13:36:51"	""	""	"SEQ"	"DNA"	""	""
"0000328059"	"00326846"	"1"	"00006"	"00006"	"2021-01-16 13:36:51"	""	""	"SEQ"	"DNA"	""	""
"0000328062"	"00326849"	"1"	"00006"	"00006"	"2021-01-16 13:36:51"	""	""	"SEQ"	"DNA"	""	""
"0000328068"	"00326855"	"1"	"00006"	"00006"	"2021-01-16 13:36:51"	""	""	"SEQ"	"DNA"	""	""
"0000328069"	"00326856"	"1"	"00006"	"00006"	"2021-01-16 13:36:51"	""	""	"SEQ"	"DNA"	""	""
"0000328070"	"00326857"	"1"	"00006"	"00006"	"2021-01-16 13:36:51"	""	""	"SEQ"	"DNA"	""	""
"0000328085"	"00326872"	"1"	"00006"	"00006"	"2021-01-16 13:36:51"	""	""	"SEQ"	"DNA"	""	""
"0000328093"	"00326880"	"1"	"00006"	"00006"	"2021-01-16 13:36:51"	""	""	"SEQ"	"DNA"	""	""
"0000328098"	"00326885"	"1"	"00006"	"00006"	"2021-01-16 13:36:51"	""	""	"SEQ"	"DNA"	""	""
"0000328101"	"00326888"	"1"	"00006"	"00006"	"2021-01-16 13:36:51"	""	""	"SEQ"	"DNA"	""	""
"0000328102"	"00326889"	"1"	"00006"	"00006"	"2021-01-16 13:36:51"	""	""	"SEQ"	"DNA"	""	""
"0000328103"	"00326890"	"1"	"00006"	"00006"	"2021-01-16 13:36:51"	""	""	"SEQ"	"DNA"	""	""
"0000328105"	"00326892"	"1"	"00006"	"00006"	"2021-01-16 13:36:51"	""	""	"SEQ"	"DNA"	""	""
"0000328106"	"00326893"	"1"	"00006"	"00006"	"2021-01-16 13:36:51"	""	""	"SEQ"	"DNA"	""	""
"0000328111"	"00326898"	"1"	"00006"	"00006"	"2021-01-16 13:36:51"	""	""	"SEQ"	"DNA"	""	""
"0000328112"	"00326899"	"1"	"00006"	"00006"	"2021-01-16 13:36:51"	""	""	"SEQ"	"DNA"	""	""
"0000328115"	"00326902"	"1"	"00006"	"00006"	"2021-01-16 13:36:51"	""	""	"SEQ"	"DNA"	""	""
"0000328116"	"00326903"	"1"	"00006"	"00006"	"2021-01-16 13:36:51"	""	""	"SEQ"	"DNA"	""	""
"0000328118"	"00326905"	"1"	"00006"	"00006"	"2021-01-16 13:36:51"	""	""	"SEQ"	"DNA"	""	""
"0000328119"	"00326906"	"1"	"00006"	"00006"	"2021-01-16 13:36:51"	""	""	"SEQ"	"DNA"	""	""
"0000328123"	"00326910"	"1"	"00006"	"00006"	"2021-01-16 13:36:51"	""	""	"SEQ"	"DNA"	""	""
"0000328125"	"00326912"	"1"	"00006"	"00006"	"2021-01-16 13:36:51"	""	""	"SEQ"	"DNA"	""	""
"0000375503"	"00374309"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000440286"	"00438804"	"1"	"00006"	"00006"	"2023-10-24 17:26:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000440287"	"00438805"	"1"	"00006"	"00006"	"2023-10-24 17:26:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000440288"	"00438806"	"1"	"00006"	"00006"	"2023-10-24 17:26:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000440289"	"00438807"	"1"	"00006"	"00006"	"2023-10-24 17:26:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000440290"	"00438808"	"1"	"00006"	"00006"	"2023-10-24 17:26:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000440291"	"00438809"	"1"	"00006"	"00006"	"2023-10-24 17:26:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000440292"	"00438810"	"1"	"00006"	"00006"	"2023-10-24 17:26:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000440293"	"00438811"	"1"	"00006"	"00006"	"2023-10-24 17:26:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000440294"	"00438812"	"1"	"00006"	"00006"	"2023-10-24 17:26:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000440295"	"00438813"	"1"	"00006"	"00006"	"2023-10-24 17:26:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000440296"	"00438814"	"1"	"00006"	"00006"	"2023-10-24 17:26:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000440297"	"00438815"	"1"	"00006"	"00006"	"2023-10-24 17:26:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000440298"	"00438816"	"1"	"00006"	"00006"	"2023-10-24 17:26:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000440299"	"00438817"	"1"	"00006"	"00006"	"2023-10-24 17:26:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000440300"	"00438818"	"1"	"00006"	"00006"	"2023-10-24 17:26:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000440301"	"00438819"	"1"	"00006"	"00006"	"2023-10-24 17:26:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000440316"	"00438834"	"1"	"00006"	"00006"	"2023-10-24 17:26:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000440319"	"00438837"	"1"	"00006"	"00006"	"2023-10-24 20:59:58"	""	""	"SEQ"	"DNA"	""	""
"0000440320"	"00438838"	"1"	"00006"	"00006"	"2023-10-24 20:59:58"	""	""	"SEQ"	"DNA"	""	""
"0000440322"	"00438840"	"1"	"00006"	"00006"	"2023-10-24 20:59:58"	""	""	"SEQ"	"DNA"	""	""
"0000440324"	"00438842"	"1"	"00006"	"00006"	"2023-10-24 20:59:58"	""	""	"SEQ"	"DNA"	""	""
"0000440325"	"00438843"	"1"	"00006"	"00006"	"2023-10-24 20:59:58"	""	""	"SEQ"	"DNA"	""	""
"0000440327"	"00438845"	"1"	"00006"	"00006"	"2023-10-24 20:59:58"	""	""	"SEQ"	"DNA"	""	""
"0000440330"	"00438848"	"1"	"00006"	"00006"	"2023-10-24 20:59:58"	""	""	"SEQ"	"DNA"	""	""
"0000440331"	"00438849"	"1"	"00006"	"00006"	"2023-10-24 20:59:58"	""	""	"SEQ"	"DNA"	""	""
"0000440332"	"00438850"	"1"	"00006"	"00006"	"2023-10-24 20:59:58"	""	""	"SEQ"	"DNA"	""	""
"0000440333"	"00438851"	"1"	"00006"	"00006"	"2023-10-24 20:59:58"	""	""	"SEQ"	"DNA"	""	""
"0000440334"	"00438852"	"1"	"00006"	"00006"	"2023-10-24 20:59:58"	""	""	"SEQ"	"DNA"	""	""
"0000440335"	"00438853"	"1"	"00006"	"00006"	"2023-10-24 20:59:58"	""	""	"SEQ"	"DNA"	""	""
"0000440337"	"00438855"	"1"	"00006"	"00006"	"2023-10-24 21:20:51"	""	""	"SEQ"	"DNA"	""	""
"0000440338"	"00438856"	"1"	"00006"	"00006"	"2023-10-24 21:20:51"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000440339"	"00438857"	"1"	"00006"	"00006"	"2023-10-24 21:20:51"	""	""	"SEQ"	"DNA"	""	""
"0000440340"	"00438858"	"1"	"00006"	"00006"	"2023-10-24 21:20:51"	""	""	"SEQ"	"DNA"	""	""
"0000440341"	"00438859"	"1"	"00006"	"00006"	"2023-10-24 21:20:51"	""	""	"SEQ"	"DNA"	""	""
"0000440342"	"00438860"	"1"	"00006"	"00006"	"2023-10-24 21:20:51"	""	""	"SEQ"	"DNA"	""	""
"0000440343"	"00438861"	"1"	"00006"	"00006"	"2023-10-25 10:31:41"	""	""	"SEQ"	"DNA"	""	""
"0000440344"	"00438862"	"1"	"00006"	"00006"	"2023-10-25 10:31:41"	""	""	"SEQ"	"DNA"	""	""
"0000440345"	"00438863"	"1"	"00006"	"00006"	"2023-10-25 10:31:41"	""	""	"SEQ"	"DNA"	""	""
"0000440347"	"00438865"	"1"	"00006"	"00006"	"2023-10-25 10:31:41"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000440348"	"00438866"	"1"	"00006"	"00006"	"2023-10-25 10:31:41"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000440350"	"00438868"	"1"	"00006"	"00006"	"2023-10-25 10:31:41"	""	""	"SEQ"	"DNA"	""	""
"0000440351"	"00438869"	"1"	"00006"	"00006"	"2023-10-26 19:35:42"	""	""	"SEQ"	"DNA"	""	""
"0000440352"	"00438870"	"1"	"00006"	"00006"	"2023-10-26 19:35:42"	""	""	"SEQ"	"DNA"	""	""
"0000440353"	"00438871"	"1"	"00006"	"00006"	"2023-10-26 19:35:42"	""	""	"SEQ"	"DNA"	""	""
"0000440354"	"00438872"	"1"	"00006"	"00006"	"2023-10-26 19:35:42"	""	""	"SEQ"	"DNA"	""	""
"0000440355"	"00438873"	"1"	"00006"	"00006"	"2023-10-26 19:35:42"	""	""	"SEQ"	"DNA"	""	""
"0000440356"	"00438874"	"1"	"00006"	"00006"	"2023-10-26 19:35:42"	""	""	"SEQ"	"DNA"	""	""
"0000440357"	"00438875"	"1"	"00006"	"00006"	"2023-10-26 19:35:42"	""	""	"SEQ"	"DNA"	""	""
"0000440358"	"00438876"	"1"	"00006"	"00006"	"2023-10-26 19:35:42"	""	""	"SEQ"	"DNA"	""	""
"0000440359"	"00438877"	"1"	"00006"	"00006"	"2023-10-26 19:35:42"	""	""	"SEQ"	"DNA"	""	""
"0000440360"	"00438878"	"1"	"00006"	"00006"	"2023-10-26 19:35:42"	""	""	"SEQ"	"DNA"	""	""
"0000440361"	"00438879"	"1"	"00006"	"00006"	"2023-10-26 19:35:42"	""	""	"SEQ"	"DNA"	""	""
"0000440365"	"00438883"	"1"	"00006"	"00006"	"2023-10-26 19:35:42"	""	""	"SEQ"	"DNA"	""	""
"0000440366"	"00438884"	"1"	"00006"	"00006"	"2023-10-26 19:35:42"	""	""	"SEQ"	"DNA"	""	""
"0000440367"	"00438885"	"1"	"00006"	"00006"	"2023-10-26 19:35:42"	""	""	"SEQ"	"DNA"	""	""
"0000440368"	"00438886"	"1"	"00006"	"00006"	"2023-10-26 19:35:42"	""	""	"SEQ"	"DNA"	""	""
"0000440369"	"00438887"	"1"	"00006"	"00006"	"2023-10-26 19:35:42"	""	""	"SEQ"	"DNA"	""	""
"0000440370"	"00438888"	"1"	"00006"	"00006"	"2023-10-26 19:35:42"	""	""	"SEQ"	"DNA"	""	""
"0000440371"	"00438889"	"1"	"00006"	"00006"	"2023-10-26 19:35:42"	""	""	"SEQ"	"DNA"	""	""
"0000440372"	"00438890"	"1"	"00006"	"00006"	"2023-10-26 19:35:42"	""	""	"SEQ"	"DNA"	""	""
"0000440380"	"00438898"	"1"	"00006"	"00006"	"2023-10-26 19:35:42"	""	""	"SEQ"	"DNA"	""	""
"0000440381"	"00438899"	"1"	"00006"	"00006"	"2023-10-26 19:35:42"	""	""	"SEQ"	"DNA"	""	""
"0000440382"	"00438900"	"1"	"00006"	"00006"	"2023-10-26 19:35:42"	""	""	"SEQ"	"DNA"	""	""
"0000440383"	"00438901"	"1"	"00006"	"00006"	"2023-10-26 19:35:42"	""	""	"SEQ"	"DNA"	""	""
"0000440386"	"00438904"	"1"	"00006"	"00006"	"2023-10-26 19:35:42"	""	""	"SEQ"	"DNA"	""	""
"0000440391"	"00438909"	"1"	"00006"	"00006"	"2023-10-26 19:35:42"	""	""	"SEQ"	"DNA"	""	""
"0000440392"	"00438910"	"1"	"00006"	"00006"	"2023-10-26 19:35:42"	""	""	"SEQ"	"DNA"	""	""
"0000440393"	"00438911"	"1"	"00006"	"00006"	"2023-10-26 19:35:42"	""	""	"SEQ"	"DNA"	""	""
"0000440396"	"00438914"	"1"	"00006"	"00006"	"2023-10-26 19:35:42"	""	""	"SEQ"	"DNA"	""	""
"0000440398"	"00438916"	"1"	"00006"	"00006"	"2023-10-26 19:35:42"	""	""	"SEQ"	"DNA"	""	""
"0000440416"	"00438934"	"1"	"00006"	"00006"	"2023-10-26 19:35:42"	""	""	"SEQ"	"DNA"	""	""
"0000440417"	"00438935"	"1"	"00006"	"00006"	"2023-10-26 19:35:42"	""	""	"SEQ"	"DNA"	""	""
"0000440425"	"00438943"	"1"	"00006"	"00006"	"2023-10-26 19:35:42"	""	""	"SEQ"	"DNA"	""	""
"0000440427"	"00438945"	"1"	"00006"	"00006"	"2023-10-26 19:35:42"	""	""	"SEQ"	"DNA"	""	""
"0000440429"	"00438947"	"1"	"00006"	"00006"	"2023-10-26 19:35:42"	""	""	"SEQ"	"DNA"	""	""
"0000440430"	"00438948"	"1"	"00006"	"00006"	"2023-10-26 19:35:42"	""	""	"SEQ"	"DNA"	""	""
"0000440435"	"00438953"	"1"	"00006"	"00006"	"2023-10-26 19:35:42"	""	""	"SEQ"	"DNA"	""	""
"0000440436"	"00438954"	"1"	"00006"	"00006"	"2023-10-26 19:35:42"	""	""	"SEQ"	"DNA"	""	""
"0000440439"	"00438957"	"1"	"00006"	"00006"	"2023-10-26 19:35:42"	""	""	"SEQ"	"DNA"	""	""
"0000440440"	"00438958"	"1"	"00006"	"00006"	"2023-10-26 19:35:42"	""	""	"SEQ"	"DNA"	""	""
"0000440441"	"00438959"	"1"	"00006"	"00006"	"2023-10-26 19:35:42"	""	""	"SEQ"	"DNA"	""	""
"0000440442"	"00438960"	"1"	"00006"	"00006"	"2023-10-26 19:35:42"	""	""	"SEQ"	"DNA"	""	""
"0000440447"	"00438965"	"1"	"00006"	"00006"	"2023-10-26 19:35:42"	""	""	"SEQ"	"DNA"	""	""
"0000440450"	"00438968"	"1"	"00006"	"00006"	"2023-10-26 19:35:42"	""	""	"SEQ"	"DNA"	""	""
"0000440456"	"00438974"	"1"	"00006"	"00006"	"2023-10-26 21:30:32"	""	""	"SEQ"	"DNA"	""	""
"0000440457"	"00438975"	"1"	"00006"	"00006"	"2023-10-26 21:30:32"	""	""	"SEQ"	"DNA"	""	""
"0000440458"	"00438976"	"1"	"00006"	"00006"	"2023-10-26 21:30:32"	""	""	"SEQ"	"DNA"	""	""
"0000440459"	"00438977"	"1"	"00006"	"00006"	"2023-10-26 21:30:32"	""	""	"SEQ"	"DNA"	""	""
"0000440460"	"00438978"	"1"	"00006"	"00006"	"2023-10-26 21:30:32"	""	""	"SEQ"	"DNA"	""	""
"0000440461"	"00438979"	"1"	"00006"	"00006"	"2023-10-26 21:30:32"	""	""	"SEQ"	"DNA"	""	""
"0000440462"	"00438980"	"1"	"00006"	"00006"	"2023-10-26 21:30:32"	""	""	"SEQ"	"DNA"	""	""
"0000440463"	"00438981"	"1"	"00006"	"00006"	"2023-10-26 21:30:32"	""	""	"SEQ"	"DNA"	""	""
"0000440464"	"00438982"	"1"	"00006"	"00006"	"2023-10-26 21:30:32"	""	""	"SEQ"	"DNA"	""	""
"0000457394"	"00455778"	"1"	"00006"	"00006"	"2024-10-20 15:03:37"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000465940"	"00464296"	"1"	"04409"	"04409"	"2025-03-03 02:32:31"	""	""	"SEQ-NG-RNA"	"RNA"	"whole blood"	""
"0000465944"	"00464300"	"1"	"04409"	"04409"	"2025-03-03 03:16:11"	""	""	"SEQ-NG-RNA"	"RNA"	"whole blood"	""
"0000468255"	"00466591"	"1"	"00006"	"00006"	"2025-09-17 18:34:31"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000468256"	"00466592"	"1"	"00006"	"00006"	"2025-09-17 18:34:31"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000468257"	"00466593"	"1"	"00006"	"00006"	"2025-09-17 18:34:31"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000468258"	"00466594"	"1"	"00006"	"00006"	"2025-09-17 18:34:31"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000468259"	"00466595"	"1"	"00006"	"00006"	"2025-09-17 18:34:31"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000468260"	"00466596"	"1"	"00006"	"00006"	"2025-09-17 18:34:31"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000468261"	"00466597"	"1"	"00006"	"00006"	"2025-09-17 18:34:31"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000468262"	"00466598"	"1"	"00006"	"00006"	"2025-09-17 18:34:31"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000468263"	"00466599"	"1"	"00006"	"00006"	"2025-09-17 18:34:31"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000468264"	"00466600"	"1"	"00006"	"00006"	"2025-09-17 18:34:31"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000468265"	"00466601"	"1"	"00006"	"00006"	"2025-09-17 18:34:31"	""	""	"SEQ-NG"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 96
"{{screeningid}}"	"{{geneid}}"
"0000108397"	"POLR3A"
"0000208576"	"POLR3A"
"0000208577"	"POLR3A"
"0000208578"	"POLR3A"
"0000208579"	"POLR3A"
"0000208580"	"POLR3A"
"0000208581"	"POLR3A"
"0000208582"	"POLR3A"
"0000208583"	"POLR3A"
"0000208584"	"POLR3A"
"0000208585"	"POLR3A"
"0000208586"	"POLR3A"
"0000208587"	"POLR3A"
"0000208591"	"POLR3A"
"0000208592"	"POLR3A"
"0000208593"	"POLR3A"
"0000208594"	"POLR3A"
"0000208595"	"POLR3A"
"0000208596"	"POLR3A"
"0000208597"	"POLR3A"
"0000208598"	"POLR3A"
"0000208599"	"POLR3A"
"0000208600"	"POLR3A"
"0000208601"	"POLR3A"
"0000208602"	"POLR3A"
"0000208603"	"POLR3A"
"0000208604"	"POLR3A"
"0000208605"	"POLR3A"
"0000208606"	"POLR3A"
"0000208607"	"POLR3A"
"0000208608"	"POLR3A"
"0000208609"	"POLR3A"
"0000208610"	"POLR3A"
"0000328038"	"POLR3A"
"0000328042"	"POLR3A"
"0000328043"	"POLR3A"
"0000328044"	"POLR3A"
"0000328045"	"POLR3A"
"0000328046"	"POLR3A"
"0000328047"	"POLR3A"
"0000328049"	"POLR3A"
"0000328050"	"POLR3A"
"0000328053"	"POLR3A"
"0000328056"	"POLR3A"
"0000328058"	"POLR3A"
"0000328059"	"POLR3A"
"0000328062"	"POLR3A"
"0000328068"	"POLR3A"
"0000328069"	"POLR3A"
"0000328070"	"POLR3A"
"0000328085"	"POLR3A"
"0000328093"	"POLR3A"
"0000328098"	"POLR3A"
"0000328101"	"POLR3A"
"0000328102"	"POLR3A"
"0000328103"	"POLR3A"
"0000328105"	"POLR3A"
"0000328106"	"POLR3A"
"0000328111"	"POLR3A"
"0000328112"	"POLR3A"
"0000328115"	"POLR3A"
"0000328116"	"POLR3A"
"0000328118"	"POLR3A"
"0000328119"	"POLR3A"
"0000328123"	"POLR3A"
"0000328125"	"POLR3A"
"0000375503"	"ENAM"
"0000440319"	"POLR3A"
"0000440320"	"POLR3A"
"0000440322"	"POLR3A"
"0000440324"	"POLR3A"
"0000440325"	"POLR3A"
"0000440327"	"POLR3A"
"0000440330"	"POLR3A"
"0000440331"	"POLR3A"
"0000440332"	"POLR3A"
"0000440333"	"POLR3A"
"0000440334"	"POLR3A"
"0000440335"	"POLR3A"
"0000440337"	"POLR3A"
"0000440338"	"POLR3A"
"0000440339"	"POLR3A"
"0000440340"	"POLR3A"
"0000440341"	"POLR3A"
"0000440342"	"POLR3A"
"0000440456"	"POLR3A"
"0000440457"	"POLR3A"
"0000440458"	"POLR3A"
"0000440459"	"POLR3A"
"0000440460"	"POLR3A"
"0000440461"	"POLR3A"
"0000440462"	"POLR3A"
"0000440463"	"POLR3A"
"0000440464"	"POLR3A"
"0000465940"	"POLR3A"
"0000465944"	"POLR3A"


## 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 = 405
"{{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}}"
"0000174326"	"11"	"70"	"10"	"79753052"	"79753052"	"subst"	"0"	"00006"	"POLR3A_000001"	"g.79753052A>T"	""	"{PMID:Saitsu 2011:22036171}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77993294A>T"	""	"likely pathogenic"	""
"0000174327"	"21"	"70"	"10"	"79745719"	"79745719"	"subst"	"2.03082E-5"	"00006"	"POLR3A_000002"	"g.79745719G>A"	""	"{PMID:Saitsu 2011:22036171}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77985961G>A"	""	"likely pathogenic"	""
"0000237848"	"3"	"70"	"10"	"79769439"	"79769439"	"subst"	"4.88492E-5"	"01807"	"POLR3A_000003"	"g.79769439G>C"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.78009681G>C"	""	"likely pathogenic"	""
"0000245377"	"3"	"70"	"10"	"79769440"	"79769440"	"subst"	"0.000113732"	"01807"	"POLR3A_000010"	"g.79769440G>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009682G>C"	""	"likely pathogenic"	""
"0000301126"	"0"	"90"	"10"	"79753126"	"79753126"	"subst"	"2.03363E-5"	"02326"	"POLR3A_000007"	"g.79753126C>T"	""	""	""	"POLR3A(NM_007055.4):c.2617-1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.77993368C>T"	""	"pathogenic"	""
"0000306135"	"0"	"10"	"10"	"79769647"	"79769647"	"subst"	"0.00171772"	"01943"	"POLR3A_000011"	"g.79769647C>T"	""	""	""	"POLR3A(NM_007055.3):c.1745G>A (p.R582H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78009889C>T"	""	"benign"	""
"0000306136"	"0"	"30"	"10"	"79760740"	"79760740"	"subst"	"0.00186113"	"01943"	"POLR3A_000009"	"g.79760740G>A"	""	""	""	"POLR3A(NM_007055.3):c.2472C>T (p.H824=), POLR3A(NM_007055.4):c.2472C>T (p.(His824=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78000982G>A"	""	"likely benign"	""
"0000306137"	"0"	"30"	"10"	"79781739"	"79781739"	"subst"	"0.00253824"	"01943"	"POLR3A_000012"	"g.79781739G>A"	""	""	""	"POLR3A(NM_007055.3):c.927C>T (p.D309=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78021981G>A"	""	"likely benign"	""
"0000321637"	"0"	"50"	"10"	"79741290"	"79741290"	"subst"	"1.21905E-5"	"01804"	"POLR3A_000004"	"g.79741290C>A"	""	""	""	"POLR3A(NM_007055.3):c.3787G>T (p.(Ala1263Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.77981532C>A"	""	"VUS"	""
"0000321638"	"0"	"50"	"10"	"79742518"	"79742518"	"subst"	"0.000121856"	"01804"	"POLR3A_000005"	"g.79742518C>T"	""	""	""	"POLR3A(NM_007055.3):c.3487G>A (p.(Gly1163Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.77982760C>T"	""	"VUS"	""
"0000321639"	"0"	"50"	"10"	"79750915"	"79750915"	"subst"	"2.44065E-5"	"01804"	"POLR3A_000006"	"g.79750915G>A"	""	""	""	"POLR3A(NM_007055.3):c.2798C>T (p.(Pro933Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.77991157G>A"	""	"VUS"	""
"0000321640"	"0"	"50"	"10"	"79759845"	"79759845"	"subst"	"0"	"01804"	"POLR3A_000008"	"g.79759845C>T"	""	""	""	"POLR3A(NM_007055.3):c.2510G>A (p.(Ser837Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78000087C>T"	""	"VUS"	""
"0000321641"	"0"	"50"	"10"	"79782048"	"79782048"	"subst"	"8.12381E-6"	"01804"	"POLR3A_000013"	"g.79782048G>A"	""	""	""	"POLR3A(NM_007055.3):c.740C>T (p.(Pro247Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78022290G>A"	""	"VUS"	""
"0000340475"	"0"	"30"	"10"	"79759751"	"79759751"	"subst"	"0.0015594"	"02327"	"POLR3A_000015"	"g.79759751C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.77999993C>T"	""	"likely benign"	""
"0000342434"	"0"	"90"	"10"	"79782028"	"79782028"	"subst"	"2.84322E-5"	"02327"	"POLR3A_000016"	"g.79782028G>A"	""	""	""	"POLR3A(NM_007055.3):c.760C>T (p.R254*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78022270G>A"	""	"pathogenic"	""
"0000348106"	"0"	"90"	"10"	"79745912"	"79745912"	"dup"	"0"	"02327"	"POLR3A_000014"	"g.79745912dup"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.77986154dup"	""	"pathogenic"	""
"0000438460"	"11"	"90"	"10"	"79744964"	"79744964"	"subst"	"2.03264E-5"	"00006"	"POLR3A_000017"	"g.79744964C>T"	""	"{PMID:Paolacci 2018:30323018}"	""	""	""	"Germline"	""	"rs778985686"	"0"	""	""	"g.77985206C>T"	""	"pathogenic (recessive)"	""
"0000438461"	"21"	"90"	"10"	"79769277"	"79769277"	"subst"	"0"	"00006"	"POLR3A_000018"	"g.79769277C>T"	""	"{PMID:Paolacci 2018:30323018}"	""	""	""	"Germline"	""	"rs267608677"	"0"	""	""	"g.78009519C>T"	""	"pathogenic (recessive)"	""
"0000438463"	"20"	"90"	"10"	"79781613"	"79781613"	"subst"	"4.06227E-6"	"00006"	"POLR3A_000019"	"g.79781613C>A"	""	"{PMID:Paolacci 2018:30323018}"	""	""	""	"Germline"	""	"rs890755853"	"0"	""	""	"g.78021855C>A"	""	"pathogenic"	""
"0000438465"	"11"	"90"	"10"	"79743781"	"79743781"	"subst"	"0"	"00006"	"POLR3A_000020"	"g.79743781A>G"	""	"{PMID:Paolacci 2018:30323018}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77984023A>G"	""	"pathogenic (recessive)"	""
"0000438466"	"11"	"50"	"10"	"79769273"	"79769273"	"subst"	"0.00136485"	"00006"	"POLR3A_000021"	"g.79769273C>T"	""	"{PMID:Paolacci 2018:30323018}"	""	""	""	"Germline"	""	"rs191875469"	"0"	""	""	"g.78009515C>T"	""	"VUS"	""
"0000438468"	"11"	"50"	"10"	"79769273"	"79769273"	"subst"	"0.00136485"	"00006"	"POLR3A_000021"	"g.79769273C>T"	""	"{PMID:Paolacci 2018:30323018}"	""	""	""	"Germline"	""	"rs191875469"	"0"	""	""	"g.78009515C>T"	""	"VUS"	""
"0000438469"	"11"	"90"	"10"	"79743781"	"79743781"	"subst"	"0"	"00006"	"POLR3A_000020"	"g.79743781A>G"	""	"{PMID:Paolacci 2018:30323018}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77984023A>G"	""	"pathogenic (recessive)"	""
"0000438471"	"21"	"90"	"10"	"79760738"	"79760738"	"subst"	"0"	"00006"	"POLR3A_000022"	"g.79760738G>C"	""	"{PMID:Paolacci 2018:30323018}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78000980G>C"	""	"pathogenic (recessive)"	""
"0000438472"	"21"	"90"	"10"	"79769404"	"79769404"	"subst"	"0"	"00006"	"POLR3A_000023"	"g.79769404G>A"	""	"{PMID:Paolacci 2018:30323018}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009646G>A"	""	"pathogenic (recessive)"	""
"0000438473"	"11"	"50"	"10"	"79769273"	"79769273"	"subst"	"0.00136485"	"00006"	"POLR3A_000021"	"g.79769273C>T"	""	"{PMID:Paolacci 2018:30323018}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009515C>T"	""	"VUS"	""
"0000438474"	"11"	"90"	"10"	"79743781"	"79743781"	"subst"	"0"	"00006"	"POLR3A_000020"	"g.79743781A>G"	""	"{PMID:Paolacci 2018:30323018}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77984023A>G"	""	"pathogenic (recessive)"	""
"0000438475"	"11"	"90"	"10"	"79753126"	"79753126"	"subst"	"2.03363E-5"	"00006"	"POLR3A_000007"	"g.79753126C>T"	""	"{PMID:Paolacci 2018:30323018}"	""	""	""	"Germline"	""	"rs181087667"	"0"	""	""	"g.77993368C>T"	""	"pathogenic (recessive)"	""
"0000438476"	"3"	"50"	"10"	"79769273"	"79769273"	"subst"	"0.00136485"	"00006"	"POLR3A_000021"	"g.79769273C>T"	""	"{PMID:Paolacci 2018:30323018}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009515C>T"	""	"VUS"	""
"0000438477"	"3"	"90"	"10"	"79743781"	"79743781"	"subst"	"0"	"00006"	"POLR3A_000020"	"g.79743781A>G"	""	"{PMID:Paolacci 2018:30323018}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77984023A>G"	""	"pathogenic (recessive)"	""
"0000438478"	"11"	"90"	"10"	"79741306"	"79741307"	"del"	"0"	"00006"	"POLR3A_000024"	"g.79741306_79741307del"	""	"{PMID:Paolacci 2018:30323018}"	""	"3772_3773delCT"	"no variant found on maternal allele"	"Germline"	""	""	"0"	""	""	"g.77981548_77981549del"	""	"pathogenic (recessive)"	""
"0000438479"	"3"	"50"	"10"	"79769273"	"79769273"	"subst"	"0.00136485"	"00006"	"POLR3A_000021"	"g.79769273C>T"	""	"{PMID:Paolacci 2018:30323018}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009515C>T"	""	"VUS"	""
"0000438480"	"3"	"50"	"10"	"79743781"	"79743781"	"subst"	"0"	"00006"	"POLR3A_000020"	"g.79743781A>G"	""	"{PMID:Paolacci 2018:30323018}"	""	""	"NOTE: variant in homozygous state does not seem to be deleterious (or is late onset)"	"Germline"	""	""	"0"	""	""	"g.77984023A>G"	""	"likely pathogenic (!)"	""
"0000438481"	"21"	"90"	"10"	"79741306"	"79741307"	"del"	"0"	"00006"	"POLR3A_000024"	"g.79741306_79741307del"	""	"{PMID:Paolacci 2018:30323018}"	""	"3772_3773delCT"	"no variant identified on paternal allele"	"Germline"	""	""	"0"	""	""	"g.77981548_77981549del"	""	"pathogenic (recessive)"	""
"0000438483"	"11"	"90"	"10"	"79739920"	"79739920"	"subst"	"4.06359E-6"	"00006"	"POLR3A_000025"	"g.79739920C>T"	""	"{PMID:Paolacci 2018:30323018}"	""	""	""	"Germline"	""	"rs768222183"	"0"	""	""	"g.77980162C>T"	""	"pathogenic (recessive)"	""
"0000438484"	"21"	"50"	"10"	"79737218"	"79737218"	"subst"	"4.06336E-6"	"00006"	"POLR3A_000026"	"g.79737218G>A"	""	"{PMID:Paolacci 2018:30323018}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77977460G>A"	""	"VUS"	""
"0000438485"	"21"	"50"	"10"	"79737218"	"79737218"	"subst"	"4.06336E-6"	"00006"	"POLR3A_000026"	"g.79737218G>A"	""	"{PMID:Paolacci 2018:30323018}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77977460G>A"	""	"VUS"	""
"0000438486"	"11"	"90"	"10"	"79789163"	"79789163"	"subst"	"4.06124E-6"	"00006"	"POLR3A_000027"	"g.79789163C>A"	""	"{PMID:Paolacci 2018:30323018}"	""	"Met1?"	""	"Germline"	""	""	"0"	""	""	"g.78029405C>A"	""	"pathogenic"	""
"0000438487"	"11"	"70"	"10"	"79741203"	"79741203"	"subst"	"1.21902E-5"	"00006"	"POLR3A_000028"	"g.79741203C>T"	""	"{PMID:Paolacci 2018:30323018}"	""	""	"no variant identified on maternal allele"	"Germline"	""	""	"0"	""	""	"g.77981445C>T"	""	"likely pathogenic"	""
"0000438488"	"21"	"70"	"10"	"79753035"	"79753035"	"subst"	"4.06468E-6"	"00006"	"POLR3A_000029"	"g.79753035C>T"	""	"{PMID:Paolacci 2018:30323018}"	""	""	"no variant identified on paternal allele"	"Germline"	""	""	"0"	""	""	"g.77993277C>T"	""	"likely pathogenic"	""
"0000438489"	"11"	"70"	"10"	"79743715"	"79743715"	"subst"	"1.22033E-5"	"00006"	"POLR3A_000030"	"g.79743715T>C"	""	"{PMID:Paolacci 2018:30323018}"	""	""	""	"Germline"	""	"rs138305578"	"0"	""	""	"g.77983957T>C"	""	"likely pathogenic"	""
"0000438490"	"21"	"90"	"10"	"79767459"	"79770299"	"del"	"0"	"00006"	"POLR3A_000031"	"g.(79764647_79767459)_(79770299_79773407)del"	""	"{PMID:Paolacci 2018:30323018}"	""	"del ex12-15"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000438496"	"1"	"90"	"10"	"79769718"	"79769718"	"subst"	"0"	"00006"	"POLR3A_000041"	"g.79769718G>C"	""	"{PMID:Bernard 2011:21855841}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009960G>C"	""	"pathogenic (recessive)"	""
"0000438497"	"3"	"90"	"10"	"79767519"	"79767519"	"subst"	"2.03044E-5"	"00006"	"POLR3A_000039"	"g.79767519C>T"	""	"{PMID:Bernard 2011:21855841}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.78007761C>T"	""	"pathogenic (recessive)"	""
"0000438498"	"3"	"90"	"10"	"79767519"	"79767519"	"subst"	"2.03044E-5"	"00006"	"POLR3A_000039"	"g.79767519C>T"	""	"{PMID:Bernard 2011:21855841}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.78007761C>T"	""	"pathogenic (recessive)"	""
"0000438499"	"3"	"90"	"10"	"79767519"	"79767519"	"subst"	"2.03044E-5"	"00006"	"POLR3A_000039"	"g.79767519C>T"	""	"{PMID:Bernard 2011:21855841}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.78007761C>T"	""	"pathogenic (recessive)"	""
"0000438500"	"3"	"90"	"10"	"79767519"	"79767519"	"subst"	"2.03044E-5"	"00006"	"POLR3A_000039"	"g.79767519C>T"	""	"{PMID:Bernard 2011:21855841}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007761C>T"	""	"pathogenic (recessive)"	""
"0000438501"	"3"	"90"	"10"	"79767519"	"79767519"	"subst"	"2.03044E-5"	"00006"	"POLR3A_000039"	"g.79767519C>T"	""	"{PMID:Bernard 2011:21855841}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007761C>T"	""	"pathogenic (recessive)"	""
"0000438502"	"1"	"90"	"10"	"79759801"	"79759801"	"subst"	"8.12176E-6"	"00006"	"POLR3A_000036"	"g.79759801T>C"	""	"{PMID:Bernard 2011:21855841}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78000043T>C"	""	"pathogenic (recessive)"	""
"0000438503"	"1"	"90"	"10"	"79761990"	"79761990"	"subst"	"0"	"00006"	"POLR3A_000037"	"g.79761990T>A"	""	"{PMID:Bernard 2011:21855841}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78002232T>A"	""	"pathogenic (recessive)"	""
"0000438504"	"1"	"90"	"10"	"79750883"	"79750883"	"subst"	"4.06636E-6"	"00006"	"POLR3A_000034"	"g.79750883C>A"	""	"{PMID:Bernard 2011:21855841}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77991125C>A"	""	"pathogenic (recessive)"	""
"0000438505"	"1"	"90"	"10"	"79759801"	"79759801"	"subst"	"8.12176E-6"	"00006"	"POLR3A_000036"	"g.79759801T>C"	""	"{PMID:Bernard 2011:21855841}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78000043T>C"	""	"pathogenic (recessive)"	""
"0000438506"	"1"	"90"	"10"	"79739917"	"79739917"	"subst"	"0"	"00006"	"POLR3A_000032"	"g.79739917G>A"	""	"{PMID:Bernard 2011:21855841}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77980159G>A"	""	"pathogenic (recessive)"	""
"0000438507"	"3"	"90"	"10"	"79769277"	"79769277"	"subst"	"0"	"00006"	"POLR3A_000018"	"g.79769277C>T"	""	"{PMID:Bernard 2011:21855841}"	""	"2003+18G>A"	""	"Germline"	"yes"	""	"0"	""	""	"g.78009519C>T"	""	"pathogenic (recessive)"	""
"0000438508"	"3"	"90"	"10"	"79769277"	"79769277"	"subst"	"0"	"00006"	"POLR3A_000018"	"g.79769277C>T"	""	"{PMID:Bernard 2011:21855841}"	""	"2003+18G>A"	""	"Germline"	"yes"	""	"0"	""	""	"g.78009519C>T"	""	"pathogenic (recessive)"	""
"0000438509"	"3"	"90"	"10"	"79769277"	"79769277"	"subst"	"0"	"00006"	"POLR3A_000018"	"g.79769277C>T"	""	"{PMID:Bernard 2011:21855841}"	""	"2003+18G>A"	""	"Germline"	"yes"	""	"0"	""	""	"g.78009519C>T"	""	"pathogenic (recessive)"	""
"0000438510"	"3"	"90"	"10"	"79769277"	"79769277"	"subst"	"0"	"00006"	"POLR3A_000018"	"g.79769277C>T"	""	"{PMID:Bernard 2011:21855841}"	""	"2003+18G>A"	""	"Germline"	"yes"	""	"0"	""	""	"g.78009519C>T"	""	"pathogenic (recessive)"	""
"0000438511"	"3"	"90"	"10"	"79769277"	"79769277"	"subst"	"0"	"00006"	"POLR3A_000018"	"g.79769277C>T"	""	"{PMID:Bernard 2011:21855841}"	""	"2003+18G>A"	""	"Germline"	"yes"	""	"0"	""	""	"g.78009519C>T"	""	"pathogenic (recessive)"	""
"0000438512"	"3"	"90"	"10"	"79769277"	"79769277"	"subst"	"0"	"00006"	"POLR3A_000018"	"g.79769277C>T"	""	"{PMID:Bernard 2011:21855841}"	""	"2003+18G>A"	""	"Germline"	"yes"	""	"0"	""	""	"g.78009519C>T"	""	"pathogenic (recessive)"	""
"0000438513"	"1"	"90"	"10"	"79784801"	"79784801"	"subst"	"0"	"00006"	"POLR3A_000043"	"g.79784801G>A"	""	"{PMID:Bernard 2011:21855841}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78025043G>A"	""	"pathogenic (recessive)"	""
"0000438514"	"3"	"90"	"10"	"79764550"	"79764550"	"subst"	"0"	"00006"	"POLR3A_000038"	"g.79764550C>T"	""	"{PMID:Bernard 2011:21855841}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78004792C>T"	""	"pathogenic (recessive)"	""
"0000438515"	"2"	"90"	"10"	"79741933"	"79741935"	"dup"	"0"	"00006"	"POLR3A_000033"	"g.79741933_79741935dup"	""	"{PMID:Bernard 2011:21855841}"	""	"3742insACC (p.1248insThr)"	""	"Germline"	""	""	"0"	""	""	"g.77982175_77982177dup"	""	"pathogenic (recessive)"	""
"0000438516"	"2"	"90"	"10"	"79753126"	"79753126"	"subst"	"2.03363E-5"	"00006"	"POLR3A_000007"	"g.79753126C>T"	""	"{PMID:Bernard 2011:21855841}"	""	"2711-1G>A"	""	"Germline"	""	""	"0"	""	""	"g.77993368C>T"	""	"pathogenic (recessive)"	""
"0000438517"	"2"	"90"	"10"	"79781375"	"79781375"	"subst"	"4.06507E-6"	"00006"	"POLR3A_000042"	"g.79781375C>T"	""	"{PMID:Bernard 2011:21855841}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78021617C>T"	""	"pathogenic (recessive)"	""
"0000438518"	"2"	"90"	"10"	"79745719"	"79745719"	"subst"	"2.03082E-5"	"00006"	"POLR3A_000002"	"g.79745719G>A"	""	"{PMID:Bernard 2011:21855841}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77985961G>A"	""	"pathogenic (recessive)"	""
"0000438519"	"2"	"90"	"10"	"79753126"	"79753126"	"subst"	"2.03363E-5"	"00006"	"POLR3A_000035"	"g.79753126C>T"	""	"{PMID:Bernard 2011:21855841}"	""	"2711-1G>A"	""	"Germline"	""	""	"0"	""	""	"g.77993368C>T"	""	"pathogenic (recessive)"	""
"0000438520"	"2"	"90"	"10"	"79769297"	"79769297"	"subst"	"0"	"00006"	"POLR3A_000040"	"g.79769297G>T"	""	"{PMID:Bernard 2011:21855841}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009539G>T"	""	"pathogenic (recessive)"	""
"0000438521"	"2"	"90"	"10"	"79759801"	"79759801"	"subst"	"8.12176E-6"	"00006"	"POLR3A_000036"	"g.79759801T>C"	""	"{PMID:Bernard 2011:21855841}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78000043T>C"	""	"pathogenic (recessive)"	""
"0000541040"	"0"	"50"	"10"	"79737337"	"79737337"	"subst"	"4.06174E-6"	"01943"	"POLR3A_000044"	"g.79737337C>T"	""	""	""	"POLR3A(NM_007055.3):c.4072G>A (p.G1358R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.77977579C>T"	""	"VUS"	""
"0000541041"	"0"	"10"	"10"	"79739936"	"79739936"	"subst"	"0.00112143"	"01943"	"POLR3A_000045"	"g.79739936A>G"	""	""	""	"POLR3A(NM_007055.3):c.3987T>C (p.F1329=), POLR3A(NM_007055.4):c.3987T>C (p.(Phe1329=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.77980178A>G"	""	"benign"	""
"0000541042"	"0"	"50"	"10"	"79741296"	"79741296"	"subst"	"1.62549E-5"	"01943"	"POLR3A_000046"	"g.79741296C>T"	""	""	""	"POLR3A(NM_007055.3):c.3781G>A (p.E1261K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.77981538C>T"	""	"VUS"	""
"0000541043"	"0"	"30"	"10"	"79741937"	"79741937"	"subst"	"0.00151554"	"01943"	"POLR3A_000047"	"g.79741937C>T"	""	""	""	"POLR3A(NM_007055.3):c.3734G>A (p.R1245Q), POLR3A(NM_007055.4):c.3734G>A (p.(Arg1245Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.77982179C>T"	""	"likely benign"	""
"0000541044"	"0"	"30"	"10"	"79741937"	"79741937"	"subst"	"0.00151554"	"01804"	"POLR3A_000047"	"g.79741937C>T"	""	""	""	"POLR3A(NM_007055.3):c.3734G>A (p.R1245Q), POLR3A(NM_007055.4):c.3734G>A (p.(Arg1245Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.77982179C>T"	""	"likely benign"	""
"0000541045"	"0"	"50"	"10"	"79742025"	"79742025"	"subst"	"3.25124E-5"	"01943"	"POLR3A_000048"	"g.79742025C>T"	""	""	""	"POLR3A(NM_007055.3):c.3646G>A (p.E1216K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.77982267C>T"	""	"VUS"	""
"0000541046"	"0"	"10"	"10"	"79744020"	"79744020"	"subst"	"0.00163383"	"01943"	"POLR3A_000049"	"g.79744020G>A"	""	""	""	"POLR3A(NM_007055.3):c.3279C>T (p.D1093=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.77984262G>A"	""	"benign"	""
"0000541047"	"0"	"30"	"10"	"79745739"	"79745739"	"subst"	"0.000138115"	"01943"	"POLR3A_000050"	"g.79745739C>T"	""	""	""	"POLR3A(NM_007055.3):c.2993G>A (p.R998H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.77985981C>T"	""	"likely benign"	""
"0000541049"	"0"	"30"	"10"	"79759775"	"79759775"	"subst"	"0.000637543"	"01943"	"POLR3A_000052"	"g.79759775G>A"	""	""	""	"POLR3A(NM_007055.3):c.2580C>T (p.D860=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78000017G>A"	""	"likely benign"	""
"0000541050"	"0"	"30"	"10"	"79760779"	"79760779"	"subst"	"2.43934E-5"	"01943"	"POLR3A_000053"	"g.79760779G>A"	""	""	""	"POLR3A(NM_007055.3):c.2433C>T (p.D811=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78001021G>A"	""	"likely benign"	""
"0000541051"	"0"	"30"	"10"	"79761970"	"79761970"	"subst"	"8.16938E-5"	"01943"	"POLR3A_000054"	"g.79761970G>A"	""	""	""	"POLR3A(NM_007055.3):c.2344C>T (p.L782=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78002212G>A"	""	"likely benign"	""
"0000541052"	"0"	"90"	"10"	"79764602"	"79764602"	"subst"	"8.12196E-6"	"02327"	"POLR3A_000055"	"g.79764602G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78004844G>A"	""	"pathogenic"	""
"0000541054"	"0"	"70"	"10"	"79767524"	"79767524"	"subst"	"0"	"02326"	"POLR3A_000057"	"g.79767524G>C"	""	""	""	"POLR3A(NM_007055.4):c.2010C>G (p.D670E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78007766G>C"	""	"likely pathogenic"	""
"0000541055"	"0"	"70"	"10"	"79769273"	"79769273"	"subst"	"0.00136485"	"01943"	"POLR3A_000021"	"g.79769273C>T"	""	""	""	"POLR3A(NM_007055.3):c.1909+22G>A, POLR3A(NM_007055.4):c.1909+22G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78009515C>T"	""	"likely pathogenic"	""
"0000541058"	"0"	"50"	"10"	"79769439"	"79769439"	"subst"	"0.000667606"	"01943"	"POLR3A_000058"	"g.79769439G>T"	""	""	""	"POLR3A(NM_007055.3):c.1771-6C>A, POLR3A(NM_007055.4):c.1771-6C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78009681G>T"	""	"VUS"	""
"0000541059"	"0"	"50"	"10"	"79770247"	"79770247"	"subst"	"0"	"01943"	"POLR3A_000059"	"g.79770247T>C"	""	""	""	"POLR3A(NM_007055.3):c.1624A>G (p.I542V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78010489T>C"	""	"VUS"	""
"0000541060"	"0"	"30"	"10"	"79777384"	"79777384"	"subst"	"4.06184E-6"	"01943"	"POLR3A_000060"	"g.79777384C>T"	""	""	""	"POLR3A(NM_007055.3):c.1380G>A (p.V460=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78017626C>T"	""	"likely benign"	""
"0000541061"	"0"	"30"	"10"	"79777419"	"79777419"	"subst"	"1.62477E-5"	"01943"	"POLR3A_000061"	"g.79777419T>C"	""	""	""	"POLR3A(NM_007055.3):c.1345A>G (p.I449V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78017661T>C"	""	"likely benign"	""
"0000541062"	"0"	"30"	"10"	"79777435"	"79777435"	"subst"	"4.06253E-6"	"01943"	"POLR3A_000062"	"g.79777435C>G"	""	""	""	"POLR3A(NM_007055.3):c.1329G>C (p.E443D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78017677C>G"	""	"likely benign"	""
"0000541063"	"0"	"30"	"10"	"79777462"	"79777462"	"subst"	"8.13015E-6"	"01943"	"POLR3A_000063"	"g.79777462G>A"	""	""	""	"POLR3A(NM_007055.3):c.1302C>T (p.Y434=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78017704G>A"	""	"likely benign"	""
"0000541064"	"0"	"70"	"10"	"79782028"	"79782028"	"subst"	"2.84322E-5"	"01943"	"POLR3A_000016"	"g.79782028G>A"	""	""	""	"POLR3A(NM_007055.3):c.760C>T (p.R254*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78022270G>A"	""	"likely pathogenic"	""
"0000541065"	"0"	"50"	"10"	"79782048"	"79782048"	"subst"	"8.12381E-6"	"02327"	"POLR3A_000013"	"g.79782048G>A"	""	""	""	"POLR3A(NM_007055.3):c.740C>T (p.(Pro247Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78022290G>A"	""	"VUS"	""
"0000541066"	"0"	"30"	"10"	"79784781"	"79784781"	"subst"	"0.000588885"	"01943"	"POLR3A_000064"	"g.79784781G>A"	""	""	""	"POLR3A(NM_007055.3):c.438C>T (p.I146=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78025023G>A"	""	"likely benign"	""
"0000541067"	"0"	"30"	"10"	"79785469"	"79785469"	"subst"	"1.21817E-5"	"01943"	"POLR3A_000065"	"g.79785469C>A"	""	""	""	"POLR3A(NM_007055.3):c.229G>T (p.A77S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78025711C>A"	""	"likely benign"	""
"0000541068"	"0"	"50"	"10"	"79785486"	"79785486"	"subst"	"1.21817E-5"	"01943"	"POLR3A_000066"	"g.79785486G>C"	""	""	""	"POLR3A(NM_007055.3):c.212C>G (p.T71S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78025728G>C"	""	"VUS"	""
"0000541069"	"0"	"50"	"10"	"79785863"	"79785863"	"subst"	"4.06154E-6"	"01943"	"POLR3A_000067"	"g.79785863C>T"	""	""	""	"POLR3A(NM_007055.3):c.169G>A (p.D57N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78026105C>T"	""	"VUS"	""
"0000541070"	"0"	"30"	"10"	"79785876"	"79785876"	"subst"	"0.0001462"	"01943"	"POLR3A_000068"	"g.79785876T>C"	""	""	""	"POLR3A(NM_007055.3):c.156A>G (p.L52=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78026118T>C"	""	"likely benign"	""
"0000541071"	"0"	"90"	"10"	"79785929"	"79785929"	"subst"	"0"	"02329"	"POLR3A_000069"	"g.79785929G>A"	""	""	""	"POLR3A(NM_007055.4):c.103C>T (p.Q35*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78026171G>A"	""	"pathogenic"	""
"0000612684"	"0"	"50"	"10"	"79742529"	"79742529"	"subst"	"0.000215283"	"01943"	"POLR3A_000070"	"g.79742529C>T"	""	""	""	"POLR3A(NM_007055.3):c.3476G>A (p.R1159H), POLR3A(NM_007055.4):c.3476G>A (p.(Arg1159His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.77982771C>T"	""	"VUS"	""
"0000612685"	"0"	"90"	"10"	"79744956"	"79744956"	"subst"	"0"	"02327"	"POLR3A_000071"	"g.79744956C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.77985198C>A"	""	"pathogenic"	""
"0000612686"	"0"	"70"	"10"	"79769273"	"79769273"	"subst"	"0.00136485"	"02326"	"POLR3A_000021"	"g.79769273C>T"	""	""	""	"POLR3A(NM_007055.3):c.1909+22G>A, POLR3A(NM_007055.4):c.1909+22G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78009515C>T"	""	"likely pathogenic"	""
"0000612687"	"0"	"90"	"10"	"79769273"	"79769273"	"subst"	"0.00136485"	"02327"	"POLR3A_000021"	"g.79769273C>T"	""	""	""	"POLR3A(NM_007055.3):c.1909+22G>A, POLR3A(NM_007055.4):c.1909+22G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78009515C>T"	""	"pathogenic"	""
"0000612688"	"0"	"10"	"10"	"79769444"	"79769444"	"del"	"0"	"01943"	"POLR3A_000072"	"g.79769444del"	""	""	""	"POLR3A(NM_007055.3):c.1771-5delC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78009686del"	""	"benign"	""
"0000612689"	"0"	"30"	"10"	"79781376"	"79781376"	"subst"	"9.75689E-5"	"01943"	"POLR3A_000073"	"g.79781376G>A"	""	""	""	"POLR3A(NM_007055.3):c.1113C>T (p.P371=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78021618G>A"	""	"likely benign"	""
"0000648005"	"1"	"50"	"10"	"79735312"	"79735312"	"subst"	"0"	"03575"	"POLR3A_000074"	"g.79735312C>T"	"13/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"13 heterozygous, no homozygous; {DB:CLININrs146925988}"	"Germline"	""	"rs146925988"	"0"	""	""	"g.77975554C>T"	""	"VUS"	""
"0000648006"	"1"	"70"	"10"	"79759801"	"79759801"	"subst"	"8.12176E-6"	"03575"	"POLR3A_000036"	"g.79759801T>C"	"1/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs267608671}"	"Germline"	""	"rs267608671"	"0"	""	""	"g.78000043T>C"	""	"likely pathogenic"	""
"0000656569"	"0"	"90"	"10"	"79741938"	"79741938"	"subst"	"4.0945E-6"	"02327"	"POLR3A_000075"	"g.79741938G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.77982180G>A"	""	"pathogenic"	""
"0000667323"	"21"	"30"	"10"	"79784873"	"79784873"	"subst"	"0"	"00006"	"POLR3A_000076"	"g.79784873T>C"	""	"{PMID:Khalifa 2015:26096995}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78025115T>C"	""	"likely benign"	""
"0000667324"	"21"	"70"	"10"	"79769668"	"79769668"	"subst"	"0.00392281"	"00006"	"POLR3A_000077"	"g.79769668T>A"	""	"{PMID:Khalifa 2015:26096995}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009910T>A"	""	"likely pathogenic (recessive)"	""
"0000667325"	"11"	"70"	"10"	"79769647"	"79769647"	"subst"	"0.00171772"	"00006"	"POLR3A_000011"	"g.79769647C>T"	""	"{PMID:Khalifa 2015:26096995}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009889C>T"	""	"likely pathogenic (recessive)"	""
"0000675160"	"0"	"90"	"10"	"79769273"	"79769273"	"subst"	"0.00136485"	"01807"	"POLR3A_000021"	"g.79769273C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000675161"	"0"	"90"	"10"	"79769307"	"79769308"	"del"	"0"	"01807"	"POLR3A_000078"	"g.79769307_79769308del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000678923"	"0"	"90"	"10"	"79745038"	"79745098"	"del"	"0"	"01943"	"POLR3A_000079"	"g.79745038_79745098del"	""	""	""	"POLR3A(NM_007055.3):c.3077_3137del (p.Q1026Pfs*3)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000678924"	"0"	"30"	"10"	"79761980"	"79761980"	"subst"	"0.000350897"	"01943"	"POLR3A_000080"	"g.79761980G>A"	""	""	""	"POLR3A(NM_007055.3):c.2334C>T (p.L778=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000678926"	"0"	"30"	"10"	"79773505"	"79773505"	"subst"	"1.62524E-5"	"01943"	"POLR3A_000081"	"g.79773505A>G"	""	""	""	"POLR3A(NM_007055.3):c.1475T>C (p.V492A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000690795"	"0"	"30"	"10"	"79741283"	"79741283"	"subst"	"0"	"01943"	"POLR3A_000082"	"g.79741283G>T"	""	""	""	"POLR3A(NM_007055.3):c.3794C>A (p.T1265K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000703975"	"11"	"90"	"10"	"79759801"	"79759801"	"subst"	"8.12176E-6"	"03841"	"POLR3A_000036"	"g.79759801T>C"	""	""	""	"g.29503A>G"	""	"Germline"	"yes"	""	"0"	""	""	"g.78000043T>C"	""	"pathogenic (recessive)"	"ACMG"
"0000703976"	"21"	"90"	"10"	"79753074"	"79753074"	"subst"	"0"	"03841"	"POLR3A_000083"	"g.79753074C>A"	""	""	""	"g.36230G>T"	""	"Germline"	"yes"	""	"0"	""	""	"g.77993316C>A"	""	"likely pathogenic (recessive)"	"ACMG"
"0000711885"	"3"	"90"	"12"	"79784456"	"79784456"	"subst"	"0"	"00006"	"POLR3A_000074"	"g.79784456C>T"	""	"{PMID:Daoud 2013:23355746}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78024698C>T"	""	"pathogenic (recessive)"	""
"0000711889"	"1"	"90"	"12"	"79769654"	"79769654"	"dup"	"0"	"00006"	"POLR3A_000067"	"g.79769654dup"	""	"{PMID:Daoud 2013:23355746}"	""	"1741insA"	""	"Germline"	""	""	"0"	""	""	"g.78009896dup"	""	"pathogenic (recessive)"	""
"0000711890"	"3"	"90"	"12"	"79784456"	"79784456"	"subst"	"0"	"00006"	"POLR3A_000074"	"g.79784456C>T"	""	"{PMID:Daoud 2013:23355746}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78024698C>T"	""	"pathogenic (recessive)"	""
"0000711891"	"1"	"90"	"12"	"79767519"	"79767519"	"subst"	"0"	"00006"	"POLR3A_000039"	"g.79767519C>T"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007761C>T"	""	"pathogenic (recessive)"	""
"0000711892"	"3"	"90"	"12"	"79767523"	"79767523"	"subst"	"0"	"00006"	"POLR3A_000060"	"g.79767523A>G"	""	"{PMID:Daoud 2013:23355746}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007765A>G"	""	"pathogenic (recessive)"	""
"0000711893"	"1"	"90"	"12"	"79745718"	"79745718"	"subst"	"0"	"00006"	"POLR3A_000049"	"g.79745718C>T"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77985960C>T"	""	"pathogenic (recessive)"	""
"0000711894"	"1"	"90"	"12"	"79781329"	"79781329"	"subst"	"0"	"00006"	"POLR3A_000072"	"g.79781329G>C"	""	"{PMID:Daoud 2013:23355746}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78021571G>C"	""	"pathogenic (recessive)"	""
"0000711896"	"3"	"90"	"12"	"79767523"	"79767523"	"subst"	"0"	"00006"	"POLR3A_000060"	"g.79767523A>G"	""	"{PMID:Daoud 2013:23355746}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007765A>G"	""	"pathogenic (recessive)"	""
"0000711897"	"1"	"90"	"12"	"79784855"	"79784857"	"del"	"0"	"00006"	"POLR3A_000076"	"g.79784855_79784857del"	""	"{PMID:Wolf 2014:25339210}"	""	"364_366delAAG"	""	"Germline"	""	""	"0"	""	""	"g.78025097_78025099del"	""	"pathogenic (recessive)"	""
"0000711900"	"1"	"90"	"12"	"79773547"	"79773547"	"subst"	"0"	"00006"	"POLR3A_000069"	"g.79773547G>C"	""	"{PMID:Wolf 2005:15851747}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78013789G>C"	""	"pathogenic (recessive)"	""
"0000711903"	"1"	"90"	"12"	"79750892"	"79750892"	"subst"	"0"	"00006"	"POLR3A_000051"	"g.79750892T>G"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77991134T>G"	""	"pathogenic (recessive)"	""
"0000711905"	"1"	"90"	"12"	"79779023"	"79779023"	"subst"	"0"	"00006"	"POLR3A_000071"	"g.79779023C>A"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78019265C>A"	""	"pathogenic (recessive)"	""
"0000711906"	"1"	"90"	"12"	"79767604"	"79767604"	"subst"	"0"	"00006"	"POLR3A_000063"	"g.79767604C>T"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007846C>T"	""	"pathogenic (recessive)"	""
"0000711909"	"1"	"90"	"12"	"79777463"	"79777463"	"dup"	"0"	"00006"	"POLR3A_000070"	"g.79777463dup"	""	"{PMID:Daoud 2013:23355746}"	""	"1302insA"	""	"Germline"	""	""	"0"	""	""	"g.78017705dup"	""	"pathogenic (recessive)"	""
"0000711915"	"1"	"90"	"12"	"79784778"	"79784778"	"dup"	"0"	"00006"	"POLR3A_000075"	"g.79784778dup"	""	"{PMID:Wolf 2014:25339210}"	""	"441dupT"	""	"Germline"	""	""	"0"	""	""	"g.78025020dup"	""	"pathogenic (recessive)"	""
"0000711916"	"1"	"90"	"12"	"79769718"	"79769718"	"subst"	"0"	"00006"	"POLR3A_000041"	"g.79769718G>C"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009960G>C"	""	"pathogenic (recessive)"	""
"0000711917"	"1"	"90"	"12"	"79785426"	"79785426"	"subst"	"0"	"00006"	"POLR3A_000077"	"g.79785426G>A"	""	"{PMID:Daoud 2013:23355746}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78025668G>A"	""	"pathogenic (recessive)"	""
"0000711932"	"1"	"90"	"12"	"79785863"	"79785863"	"subst"	"0"	"00006"	"POLR3A_000067"	"g.79785863C>T"	""	"{PMID:Timmons 2006:17159124}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78026105C>T"	""	"pathogenic (recessive)"	""
"0000711940"	"1"	"90"	"12"	"79769409"	"79769409"	"subst"	"0"	"00006"	"POLR3A_000066"	"g.79769409G>T"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009651G>T"	""	"pathogenic (recessive)"	""
"0000711945"	"1"	"90"	"12"	"79769734"	"79769734"	"subst"	"0"	"00006"	"POLR3A_000068"	"g.79769734G>A"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009976G>A"	""	"pathogenic (recessive)"	""
"0000711948"	"1"	"90"	"12"	"79767529"	"79767529"	"subst"	"0"	"00006"	"POLR3A_000061"	"g.79767529G>C"	""	"{PMID:Wolf 2007:17712733}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007771G>C"	""	"pathogenic (recessive)"	""
"0000711949"	"3"	"90"	"12"	"79759808"	"79759808"	"subst"	"0"	"00006"	"POLR3A_000055"	"g.79759808G>C"	""	"{PMID:Vazquez-Lopez 2008:18671210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78000050G>C"	""	"pathogenic (recessive)"	""
"0000711950"	"1"	"90"	"12"	"79767495"	"79767495"	"subst"	"0"	"00006"	"POLR3A_000059"	"g.79767495A>G"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007737A>G"	""	"pathogenic (recessive)"	""
"0000711952"	"1"	"90"	"12"	"79784399"	"79784400"	"delins"	"0"	"00006"	"POLR3A_000073"	"g.79784399_79784400delinsA"	""	"{PMID:Wolf 2014:25339210}"	""	"550_553delinsAAT"	""	"Germline"	""	""	"0"	""	""	"g.78024641_78024642delinsA"	""	"pathogenic (recessive)"	""
"0000711953"	"1"	"90"	"12"	"79767495"	"79767495"	"subst"	"0"	"00006"	"POLR3A_000059"	"g.79767495A>G"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007737A>G"	""	"pathogenic (recessive)"	""
"0000711958"	"1"	"90"	"12"	"79745830"	"79745830"	"subst"	"0"	"00006"	"POLR3A_000050"	"g.79745830C>A"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77986072C>A"	""	"pathogenic (recessive)"	""
"0000711959"	"1"	"90"	"12"	"79767604"	"79767604"	"subst"	"0"	"00006"	"POLR3A_000063"	"g.79767604C>T"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007846C>T"	""	"pathogenic (recessive)"	""
"0000711962"	"1"	"90"	"12"	"79767523"	"79767523"	"subst"	"0"	"00006"	"POLR3A_000060"	"g.79767523A>G"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007765A>G"	""	"pathogenic (recessive)"	""
"0000711963"	"3"	"90"	"12"	"79769407"	"79769407"	"subst"	"0"	"00006"	"POLR3A_000065"	"g.79769407C>G"	""	"{PMID:Bekiesinska-Figatowska 2010:19700253}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009649C>G"	""	"pathogenic (recessive)"	""
"0000711965"	"3"	"90"	"12"	"79769407"	"79769407"	"subst"	"0"	"00006"	"POLR3A_000065"	"g.79769407C>G"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009649C>G"	""	"pathogenic (recessive)"	""
"0000711966"	"3"	"90"	"12"	"79759813"	"79759813"	"subst"	"0"	"00006"	"POLR3A_000056"	"g.79759813A>G"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78000055A>G"	""	"pathogenic (recessive)"	""
"0000711970"	"1"	"90"	"12"	"79767519"	"79767519"	"subst"	"0"	"00006"	"POLR3A_000039"	"g.79767519C>T"	""	"{PMID:Wolf 2014:25339210}"	""	""	"no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.78007761C>T"	""	"pathogenic"	""
"0000711972"	"1"	"90"	"12"	"79745718"	"79745718"	"subst"	"0"	"00006"	"POLR3A_000049"	"g.79745718C>T"	""	"{PMID:Potic 2012:22451160}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77985960C>T"	""	"pathogenic (recessive)"	""
"0000711978"	"2"	"90"	"12"	"79769400"	"79769400"	"subst"	"0"	"00006"	"POLR3A_000064"	"g.79769400T>G"	""	"{PMID:Daoud 2013:23355746}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009642T>G"	""	"pathogenic (recessive)"	""
"0000711979"	"2"	"90"	"12"	"79741296"	"79741296"	"subst"	"0"	"00006"	"POLR3A_000046"	"g.79741296C>T"	""	"{PMID:Daoud 2013:23355746}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77981538C>T"	""	"pathogenic (recessive)"	""
"0000711983"	"2"	"90"	"12"	"79743700"	"79743700"	"subst"	"0"	"00006"	"POLR3A_000048"	"g.79743700C>T"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77983942C>T"	""	"pathogenic (recessive)"	""
"0000711984"	"2"	"90"	"12"	"79767519"	"79767519"	"subst"	"0"	"00006"	"POLR3A_000039"	"g.79767519C>T"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007761C>T"	""	"pathogenic (recessive)"	""
"0000711985"	"2"	"90"	"12"	"79767599"	"79767599"	"subst"	"0"	"00006"	"POLR3A_000062"	"g.79767599C>G"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007841C>G"	""	"pathogenic (recessive)"	""
"0000711992"	"2"	"90"	"12"	"79753082"	"79753082"	"subst"	"0"	"00006"	"POLR3A_000053"	"g.79753082T>A"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77993324T>A"	""	"pathogenic (recessive)"	""
"0000711993"	"2"	"90"	"12"	"79753082"	"79753082"	"subst"	"0"	"00006"	"POLR3A_000053"	"g.79753082T>A"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77993324T>A"	""	"pathogenic (recessive)"	""
"0000712001"	"2"	"90"	"12"	"79741953"	"79741953"	"subst"	"0"	"00006"	"POLR3A_000047"	"g.79741953C>T"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77982195C>T"	""	"pathogenic (recessive)"	""
"0000712002"	"2"	"90"	"12"	"79767519"	"79767519"	"subst"	"0"	"00006"	"POLR3A_000039"	"g.79767519C>T"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007761C>T"	""	"pathogenic (recessive)"	""
"0000712003"	"2"	"90"	"12"	"79745719"	"79745719"	"subst"	"0"	"00006"	"POLR3A_000002"	"g.79745719G>A"	""	"{PMID:Daoud 2013:23355746}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77985961G>A"	""	"pathogenic (recessive)"	""
"0000712004"	"2"	"90"	"12"	"79767604"	"79767604"	"subst"	"0"	"00006"	"POLR3A_000063"	"g.79767604C>T"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007846C>T"	""	"pathogenic (recessive)"	""
"0000712006"	"2"	"90"	"12"	"79759801"	"79759801"	"subst"	"0"	"00006"	"POLR3A_000036"	"g.79759801T>C"	""	"{PMID:Daoud 2013:23355746}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78000043T>C"	""	"pathogenic (recessive)"	""
"0000712007"	"2"	"90"	"12"	"79741296"	"79741296"	"subst"	"0"	"00006"	"POLR3A_000046"	"g.79741296C>T"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77981538C>T"	""	"pathogenic (recessive)"	""
"0000712008"	"2"	"90"	"12"	"79759801"	"79759801"	"subst"	"0"	"00006"	"POLR3A_000036"	"g.79759801T>C"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78000043T>C"	""	"pathogenic (recessive)"	""
"0000712009"	"2"	"90"	"12"	"79741953"	"79741953"	"subst"	"0"	"00006"	"POLR3A_000047"	"g.79741953C>T"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77982195C>T"	""	"pathogenic (recessive)"	""
"0000712012"	"2"	"90"	"12"	"79753124"	"79753124"	"subst"	"0"	"00006"	"POLR3A_000054"	"g.79753124C>T"	""	"{PMID:Wolf 2007:17712733}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77993366C>T"	""	"pathogenic (recessive)"	""
"0000712013"	"2"	"90"	"12"	"79750903"	"79750903"	"subst"	"0"	"00006"	"POLR3A_000052"	"g.79750903T>A"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77991145T>A"	""	"pathogenic (recessive)"	""
"0000712015"	"2"	"90"	"12"	"79767489"	"79767489"	"subst"	"0"	"00006"	"POLR3A_000056"	"g.79767489C>T"	""	"{PMID:Wolf 2005:15851747}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007731C>T"	""	"pathogenic (recessive)"	""
"0000712025"	"2"	"90"	"12"	"79759801"	"79759801"	"subst"	"0"	"00006"	"POLR3A_000036"	"g.79759801T>C"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78000043T>C"	""	"pathogenic (recessive)"	""
"0000712029"	"2"	"90"	"12"	"79745718"	"79745718"	"subst"	"0"	"00006"	"POLR3A_000049"	"g.79745718C>T"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77985960C>T"	""	"pathogenic (recessive)"	""
"0000712036"	"2"	"90"	"12"	"79739932"	"79739932"	"subst"	"0"	"00006"	"POLR3A_000001"	"g.79739932C>T"	""	"{PMID:Potic 2012:22451160}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77980174C>T"	""	"pathogenic (recessive)"	""
"0000712037"	"2"	"90"	"12"	"79764623"	"79764623"	"subst"	"0"	"00006"	"POLR3A_000058"	"g.79764623T>A"	""	"{PMID:Timmons 2006:17159124}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78004865T>A"	""	"pathogenic (recessive)"	""
"0000712045"	"2"	"90"	"12"	"79745719"	"79745719"	"subst"	"0"	"00006"	"POLR3A_000002"	"g.79745719G>A"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77985961G>A"	""	"pathogenic (recessive)"	""
"0000712046"	"2"	"90"	"12"	"79761964"	"79761964"	"subst"	"0"	"00006"	"POLR3A_000057"	"g.79761964C>T"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78002206C>T"	""	"pathogenic (recessive)"	""
"0000722944"	"0"	"30"	"10"	"79741243"	"79741243"	"subst"	"1.21881E-5"	"01943"	"POLR3A_000084"	"g.79741243G>A"	""	""	""	"POLR3A(NM_007055.3):c.3834C>T (p.H1278=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000722945"	"0"	"90"	"10"	"79745718"	"79745718"	"subst"	"3.24971E-5"	"02325"	"POLR3A_000049"	"g.79745718C>T"	""	""	""	"POLR3A(NM_007055.4):c.3014G>A (p.R1005H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000722946"	"0"	"50"	"10"	"79759834"	"79759834"	"subst"	"0"	"02327"	"POLR3A_000085"	"g.79759834C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000722947"	"0"	"50"	"10"	"79764556"	"79764556"	"subst"	"1.21845E-5"	"02325"	"POLR3A_000086"	"g.79764556T>C"	""	""	""	"POLR3A(NM_007055.4):c.2165A>G (p.K722R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000722948"	"0"	"50"	"10"	"79769417"	"79769417"	"subst"	"1.62446E-5"	"02329"	"POLR3A_000087"	"g.79769417G>A"	""	""	""	"POLR3A(NM_007055.4):c.1787C>T (p.T596M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000722949"	"0"	"70"	"10"	"79769439"	"79769439"	"subst"	"0.000667606"	"02329"	"POLR3A_000058"	"g.79769439G>T"	""	""	""	"POLR3A(NM_007055.3):c.1771-6C>A, POLR3A(NM_007055.4):c.1771-6C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000722950"	"0"	"50"	"10"	"79779023"	"79779023"	"subst"	"4.06577E-6"	"02325"	"POLR3A_000071"	"g.79779023C>A"	""	""	""	"POLR3A(NM_007055.4):c.1186G>T (p.V396L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000722951"	"0"	"30"	"10"	"79784470"	"79784470"	"subst"	"0"	"01943"	"POLR3A_000088"	"g.79784470G>A"	""	""	""	"POLR3A(NM_007055.3):c.491-9C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000787469"	"3"	"50"	"10"	"79745739"	"79745739"	"subst"	"0.000138115"	"00000"	"POLR3A_000050"	"g.79745739C>T"	""	"0"	""	""	""	"Germline"	""	"rs139665002"	"0"	""	""	"g.77985981C>T"	""	"VUS"	""
"0000804575"	"0"	"30"	"10"	"79741937"	"79741937"	"subst"	"0.00151554"	"02327"	"POLR3A_000047"	"g.79741937C>T"	""	""	""	"POLR3A(NM_007055.3):c.3734G>A (p.R1245Q), POLR3A(NM_007055.4):c.3734G>A (p.(Arg1245Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000804576"	"0"	"50"	"10"	"79742486"	"79742486"	"subst"	"4.06171E-6"	"01943"	"POLR3A_000089"	"g.79742486C>T"	""	""	""	"POLR3A(NM_007055.3):c.3519G>A (p.V1173=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000804577"	"0"	"50"	"10"	"79745827"	"79745827"	"subst"	"0"	"01943"	"POLR3A_000090"	"g.79745827T>C"	""	""	""	"POLR3A(NM_007055.3):c.2988+4A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000804578"	"0"	"50"	"10"	"79781693"	"79781693"	"subst"	"0"	"02325"	"POLR3A_000091"	"g.79781693G>A"	""	""	""	"POLR3A(NM_007055.4):c.973C>T (p.L325F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000804579"	"0"	"50"	"10"	"79781696"	"79781696"	"subst"	"0"	"01943"	"POLR3A_000092"	"g.79781696C>T"	""	""	""	"POLR3A(NM_007055.3):c.970G>A (p.E324K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000852598"	"0"	"30"	"10"	"79741207"	"79741207"	"subst"	"1.21904E-5"	"01943"	"POLR3A_000094"	"g.79741207G>A"	""	""	""	"POLR3A(NM_007055.3):c.3870C>T (p.L1290=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000852599"	"0"	"50"	"10"	"79742569"	"79742569"	"subst"	"0.000768393"	"01943"	"POLR3A_000095"	"g.79742569C>T"	""	""	""	"POLR3A(NM_007055.3):c.3436G>A (p.A1146T), POLR3A(NM_007055.4):c.3436G>A (p.(Ala1146Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000852600"	"0"	"30"	"10"	"79769647"	"79769647"	"subst"	"0.00857644"	"02326"	"POLR3A_000096"	"g.79769647C>A"	""	""	""	"POLR3A(NM_007055.3):c.1745G>T (p.(Arg582Leu)), POLR3A(NM_007055.4):c.1745G>T (p.R582L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000861998"	"0"	"30"	"10"	"79737352"	"79737352"	"subst"	"7.31054E-5"	"01943"	"POLR3A_000093"	"g.79737352T>C"	""	""	""	"POLR3A(NM_007055.3):c.4057A>G (p.M1353V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000861999"	"0"	"50"	"10"	"79773530"	"79773530"	"subst"	"1.21947E-5"	"01943"	"POLR3A_000097"	"g.79773530G>A"	""	""	""	"POLR3A(NM_007055.3):c.1450C>T (p.R484W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000862000"	"0"	"50"	"10"	"79784897"	"79784897"	"subst"	"0"	"01943"	"POLR3A_000098"	"g.79784897T>C"	""	""	""	"POLR3A(NM_007055.3):c.322A>G (p.I108V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000889260"	"0"	"50"	"10"	"79793647"	"79793647"	"subst"	"0"	"02325"	"POLR3A_000099"	"g.79793647A>C"	""	""	""	"RPS24(NM_033022.4):c.-13A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000920111"	"0"	"90"	"10"	"79769273"	"79769273"	"subst"	"0.00136485"	"03779"	"POLR3A_000021"	"g.79769273C>T"	""	""	""	""	""	"Unknown"	""	"rs191875469"	"0"	""	""	""	""	"pathogenic"	""
"0000925195"	"0"	"30"	"10"	"79760818"	"79760818"	"subst"	"0.0616495"	"02326"	"POLR3A_000100"	"g.79760818A>G"	""	""	""	"POLR3A(NM_007055.4):c.2394T>C (p.C798=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000929704"	"0"	"50"	"10"	"79753029"	"79753029"	"subst"	"0"	"02327"	"POLR3A_000101"	"g.79753029C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000936616"	"1"	"70"	"10"	"79769718"	"79769718"	"subst"	"0"	"00006"	"POLR3A_000041"	"g.79769718G>C"	""	"{PMID:Mirchi 2023:37197783}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009960G>C"	""	"likely pathogenic (recessive)"	""
"0000936617"	"3"	"70"	"10"	"79767519"	"79767519"	"subst"	"2.03044E-5"	"00006"	"POLR3A_000039"	"g.79767519C>T"	""	"{PMID:Mirchi 2023:37197783}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007761C>T"	""	"likely pathogenic (recessive)"	""
"0000936618"	"3"	"70"	"10"	"79767519"	"79767519"	"subst"	"2.03044E-5"	"00006"	"POLR3A_000039"	"g.79767519C>T"	""	"{PMID:Mirchi 2023:37197783}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007761C>T"	""	"likely pathogenic (recessive)"	""
"0000936619"	"3"	"70"	"10"	"79767519"	"79767519"	"subst"	"2.03044E-5"	"00006"	"POLR3A_000039"	"g.79767519C>T"	""	"{PMID:Mirchi 2023:37197783}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007761C>T"	""	"likely pathogenic (recessive)"	""
"0000936620"	"1"	"70"	"10"	"79767519"	"79767519"	"subst"	"2.03044E-5"	"00006"	"POLR3A_000039"	"g.79767519C>T"	""	"{PMID:Mirchi 2023:37197783}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007761C>T"	""	"likely pathogenic (recessive)"	""
"0000936621"	"1"	"70"	"10"	"79769718"	"79769718"	"subst"	"0"	"00006"	"POLR3A_000041"	"g.79769718G>C"	""	"{PMID:Mirchi 2023:37197783}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009960G>C"	""	"likely pathogenic (recessive)"	""
"0000936622"	"1"	"70"	"10"	"79742423"	"79742423"	"del"	"0"	"00006"	"POLR3A_000105"	"g.79742423del"	""	"{PMID:Mirchi 2023:37197783}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77982665del"	""	"likely pathogenic (recessive)"	""
"0000936623"	"1"	"70"	"10"	"79769439"	"79769439"	"subst"	"4.88492E-5"	"00006"	"POLR3A_000003"	"g.79769439G>C"	""	"{PMID:Mirchi 2023:37197783}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009681G>C"	""	"likely pathogenic (recessive)"	""
"0000936624"	"1"	"70"	"10"	"79745718"	"79745718"	"subst"	"3.24971E-5"	"00006"	"POLR3A_000049"	"g.79745718C>T"	""	"{PMID:Mirchi 2023:37197783}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77985960C>T"	""	"likely pathogenic (recessive)"	""
"0000936625"	"1"	"70"	"10"	"79769439"	"79769439"	"subst"	"4.88492E-5"	"00006"	"POLR3A_000003"	"g.79769439G>C"	""	"{PMID:Mirchi 2023:37197783}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009681G>C"	""	"likely pathogenic (recessive)"	""
"0000936626"	"1"	"70"	"10"	"79769440"	"79769440"	"subst"	"0.000113732"	"00006"	"POLR3A_000010"	"g.79769440G>C"	""	"{PMID:Mirchi 2023:37197783}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009682G>C"	""	"likely pathogenic (recessive)"	""
"0000936627"	"1"	"70"	"10"	"79777395"	"79777395"	"subst"	"4.06184E-6"	"00006"	"POLR3A_000116"	"g.79777395C>T"	""	"{PMID:Mirchi 2023:37197783}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78017637C>T"	""	"likely pathogenic (recessive)"	""
"0000936628"	"1"	"70"	"10"	"79759801"	"79759801"	"subst"	"8.12176E-6"	"00006"	"POLR3A_000036"	"g.79759801T>C"	""	"{PMID:Mirchi 2023:37197783}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78000043T>C"	""	"likely pathogenic (recessive)"	""
"0000936629"	"1"	"70"	"10"	"79779023"	"79779023"	"subst"	"4.06577E-6"	"00006"	"POLR3A_000071"	"g.79779023C>A"	""	"{PMID:Mirchi 2023:37197783}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78019265C>A"	""	"likely pathogenic (recessive)"	""
"0000936630"	"3"	"70"	"10"	"79769277"	"79769277"	"subst"	"0"	"00006"	"POLR3A_000018"	"g.79769277C>T"	""	"{PMID:Mirchi 2023:37197783}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009519C>T"	""	"likely pathogenic (recessive)"	""
"0000936631"	"1"	"70"	"10"	"79781438"	"79781438"	"subst"	"4.07169E-6"	"00006"	"POLR3A_000118"	"g.79781438G>A"	""	"{PMID:Mirchi 2023:37197783}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78021680G>A"	""	"likely pathogenic (recessive)"	""
"0000936646"	"1"	"70"	"10"	"79760778"	"79760778"	"subst"	"9.35058E-5"	"00006"	"POLR3A_000113"	"g.79760778C>T"	""	"{PMID:Mirchi 2023:37197783}"	""	""	"variants in POLR3A are disease causing, either solely or in combination with the POLR3B variants"	"Germline"	""	""	"0"	""	""	"g.78001020C>T"	""	"likely pathogenic (recessive)"	""
"0000936647"	"2"	"70"	"10"	"79741928"	"79741929"	"ins"	"0"	"00006"	"POLR3A_000104"	"g.79741928_79741929insGGT"	""	"{PMID:Mirchi 2023:37197783}"	""	"p.1248insT"	""	"Germline"	""	""	"0"	""	""	"g.77982170_77982171insGGT"	""	"likely pathogenic (recessive)"	""
"0000936648"	"2"	"70"	"10"	"79741953"	"79741953"	"subst"	"2.85679E-5"	"00006"	"POLR3A_000047"	"g.79741953C>T"	""	"{PMID:Mirchi 2023:37197783}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77982195C>T"	""	"likely pathogenic (recessive)"	""
"0000936649"	"2"	"70"	"10"	"79767519"	"79767519"	"subst"	"2.03044E-5"	"00006"	"POLR3A_000039"	"g.79767519C>T"	""	"{PMID:Mirchi 2023:37197783}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007761C>T"	""	"likely pathogenic (recessive)"	""
"0000936650"	"2"	"70"	"10"	"79769440"	"79769440"	"subst"	"0.000113732"	"00006"	"POLR3A_000010"	"g.79769440G>C"	""	"{PMID:Mirchi 2023:37197783}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009682G>C"	""	"likely pathogenic (recessive)"	""
"0000936651"	"2"	"70"	"10"	"79744965"	"79744965"	"subst"	"0"	"00006"	"POLR3A_000108"	"g.79744965G>A"	""	"{PMID:Mirchi 2023:37197783}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77985207G>A"	""	"likely pathogenic (recessive)"	""
"0000936652"	"2"	"70"	"10"	"79741296"	"79741296"	"subst"	"1.62549E-5"	"00006"	"POLR3A_000046"	"g.79741296C>T"	""	"{PMID:Mirchi 2023:37197783}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77981538C>T"	""	"likely pathogenic (recessive)"	""
"0000936653"	"2"	"70"	"10"	"79750896"	"79750897"	"del"	"0"	"00006"	"POLR3A_000109"	"g.79750896_79750897del"	""	"{PMID:Mirchi 2023:37197783}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77991138_77991139del"	""	"likely pathogenic (recessive)"	""
"0000936654"	"2"	"70"	"10"	"79744926"	"79744926"	"subst"	"0"	"00006"	"POLR3A_000106"	"g.79744926A>C"	""	"{PMID:Mirchi 2023:37197783}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77985168A>C"	""	"likely pathogenic (recessive)"	""
"0000936655"	"2"	"70"	"10"	"79744058"	"79744058"	"subst"	"0"	"00006"	"POLR3A_000107"	"g.79744058T>C"	""	"{PMID:Mirchi 2023:37197783}"	""	"3242+2A>G"	""	"Germline"	""	""	"0"	""	""	"g.77984300T>C"	""	"likely pathogenic (recessive)"	""
"0000936656"	"2"	"70"	"10"	"79753126"	"79753126"	"subst"	"2.03363E-5"	"00006"	"POLR3A_000007"	"g.79753126C>T"	""	"{PMID:Mirchi 2023:37197783}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77993368C>T"	""	"likely pathogenic (recessive)"	""
"0000936657"	"2"	"70"	"10"	"79767519"	"79767519"	"subst"	"2.03044E-5"	"00006"	"POLR3A_000039"	"g.79767519C>T"	""	"{PMID:Mirchi 2023:37197783}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007761C>T"	""	"likely pathogenic (recessive)"	""
"0000936658"	"2"	"70"	"10"	"79769440"	"79769440"	"subst"	"0.000113732"	"00006"	"POLR3A_000010"	"g.79769440G>C"	""	"{PMID:Mirchi 2023:37197783}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009682G>C"	""	"likely pathogenic (recessive)"	""
"0000936669"	"2"	"70"	"10"	"79781303"	"79782143"	"del"	"0"	"00006"	"POLR3A_000102"	"g.(79779024_79781303)_(79782143_79784306)del"	""	"{PMID:Mirchi 2023:37197783}"	""	"del ex6-8"	"variants in POLR3A are disease causing, either solely or in combination with the POLR3B variants"	"Germline"	""	""	"0"	""	""	"g.(78019266_78021545)_(78022385_78024548)del"	""	"likely pathogenic (recessive)"	""
"0000936676"	"1"	"90"	"10"	"79781375"	"79781375"	"subst"	"4.06507E-6"	"00006"	"POLR3A_000042"	"g.79781375C>T"	""	"{PMID:Yazidi 2019:30838315}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78021617C>T"	""	"pathogenic (recessive)"	""
"0000936677"	"1"	"90"	"10"	"79759801"	"79759801"	"subst"	"8.12176E-6"	"00006"	"POLR3A_000036"	"g.79759801T>C"	""	"{PMID:Yazidi 2019:30838315}"	""	"2554A>A/G"	""	"Germline"	""	""	"0"	""	""	"g.78000043T>C"	""	"pathogenic (recessive)"	""
"0000936679"	"1"	"90"	"10"	"79779023"	"79779023"	"subst"	"4.06577E-6"	"00006"	"POLR3A_000071"	"g.79779023C>A"	""	"{PMID:Yazidi 2019:30838315}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78019265C>A"	""	"pathogenic (recessive)"	""
"0000936681"	"1"	"90"	"10"	"79767604"	"79767604"	"subst"	"8.12189E-6"	"00006"	"POLR3A_000063"	"g.79767604C>T"	""	"{PMID:Yazidi 2019:30838315}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007846C>T"	""	"pathogenic (recessive)"	""
"0000936682"	"3"	"90"	"10"	"79769277"	"79769277"	"subst"	"0"	"00006"	"POLR3A_000018"	"g.79769277C>T"	""	"{PMID:Yazidi 2019:30838315}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009519C>T"	""	"pathogenic (recessive)"	""
"0000936684"	"1"	"90"	"10"	"79777395"	"79777395"	"subst"	"4.06184E-6"	"00006"	"POLR3A_000116"	"g.79777395C>T"	""	"{PMID:Yazidi 2019:30838315}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78017637C>T"	""	"pathogenic (recessive)"	""
"0000936687"	"1"	"90"	"10"	"79741296"	"79741296"	"subst"	"1.62549E-5"	"00006"	"POLR3A_000046"	"g.79741296C>T"	""	"{PMID:Yazidi 2019:30838315}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77981538C>T"	""	"pathogenic (recessive)"	""
"0000936688"	"1"	"90"	"10"	"79767519"	"79767519"	"subst"	"2.03044E-5"	"00006"	"POLR3A_000039"	"g.79767519C>T"	""	"{PMID:Yazidi 2019:30838315}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007761C>T"	""	"pathogenic (recessive)"	""
"0000936689"	"1"	"90"	"10"	"79769718"	"79769718"	"subst"	"0"	"00006"	"POLR3A_000041"	"g.79769718G>C"	""	"{PMID:Yazidi 2019:30838315}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009960G>C"	""	"pathogenic (recessive)"	""
"0000936690"	"3"	"90"	"10"	"79767519"	"79767519"	"subst"	"2.03044E-5"	"00006"	"POLR3A_000039"	"g.79767519C>T"	""	"{PMID:Yazidi 2019:30838315}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007761C>T"	""	"pathogenic (recessive)"	""
"0000936691"	"3"	"90"	"10"	"79767519"	"79767519"	"subst"	"2.03044E-5"	"00006"	"POLR3A_000039"	"g.79767519C>T"	""	"{PMID:Yazidi 2019:30838315}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007761C>T"	""	"pathogenic (recessive)"	""
"0000936692"	"1"	"90"	"10"	"79769718"	"79769718"	"subst"	"0"	"00006"	"POLR3A_000041"	"g.79769718G>C"	""	"{PMID:Yazidi 2019:30838315}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009960G>C"	""	"pathogenic (recessive)"	""
"0000936696"	"2"	"90"	"10"	"79761990"	"79761990"	"subst"	"0"	"00006"	"POLR3A_000037"	"g.79761990T>A"	""	"{PMID:Yazidi 2019:30838315}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78002232T>A"	""	"pathogenic (recessive)"	""
"0000936697"	"2"	"90"	"10"	"79753126"	"79753126"	"subst"	"2.03363E-5"	"00006"	"POLR3A_000007"	"g.79753126C>T"	""	"{PMID:Yazidi 2019:30838315}"	""	"IVS19-1G>A"	""	"Germline"	""	""	"0"	""	""	"g.77993368C>T"	""	"pathogenic (recessive)"	""
"0000936699"	"2"	"90"	"10"	"79767519"	"79767519"	"subst"	"2.03044E-5"	"00006"	"POLR3A_000039"	"g.79767519C>T"	""	"{PMID:Yazidi 2019:30838315}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007761C>T"	""	"pathogenic (recessive)"	""
"0000936701"	"2"	"90"	"10"	"79767599"	"79767599"	"subst"	"4.06085E-6"	"00006"	"POLR3A_000062"	"g.79767599C>G"	""	"{PMID:Yazidi 2019:30838315}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007841C>G"	""	"pathogenic (recessive)"	""
"0000936703"	"2"	"90"	"10"	"79744058"	"79744058"	"subst"	"0"	"00006"	"POLR3A_000107"	"g.79744058T>C"	""	"{PMID:Yazidi 2019:30838315}"	""	"3242-2A>G"	""	"Germline"	""	""	"0"	""	""	"g.77984300T>C"	""	"pathogenic (recessive)"	""
"0000936706"	"2"	"90"	"10"	"79745718"	"79745718"	"subst"	"3.24971E-5"	"00006"	"POLR3A_000049"	"g.79745718C>T"	""	"{PMID:Yazidi 2019:30838315}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77985960C>T"	""	"pathogenic (recessive)"	""
"0000936707"	"2"	"90"	"10"	"79741953"	"79741953"	"subst"	"2.85679E-5"	"00006"	"POLR3A_000047"	"g.79741953C>T"	""	"{PMID:Yazidi 2019:30838315}"	""	"3178G>A"	""	"Germline"	""	""	"0"	""	""	"g.77982195C>T"	""	"pathogenic (recessive)"	""
"0000936708"	"2"	"90"	"10"	"79767519"	"79767519"	"subst"	"2.03044E-5"	"00006"	"POLR3A_000039"	"g.79767519C>T"	""	"{PMID:Yazidi 2019:30838315}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007761C>T"	""	"pathogenic (recessive)"	""
"0000936709"	"2"	"90"	"10"	"79741933"	"79741935"	"dup"	"0"	"00006"	"POLR3A_000033"	"g.79741933_79741935dup"	""	"{PMID:Yazidi 2019:30838315}"	""	"3742insACC"	""	"Germline"	""	""	"0"	""	""	"g.77982175_77982177dup"	""	"pathogenic (recessive)"	""
"0000936710"	"1"	"90"	"10"	"79764602"	"79764602"	"subst"	"8.12196E-6"	"00006"	"POLR3A_000055"	"g.79764602G>A"	""	"{PMID:Perrier 2020:32582862}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78004844G>A"	""	"pathogenic (recessive)"	""
"0000936711"	"1"	"90"	"10"	"79769711"	"79769711"	"subst"	"0"	"00006"	"POLR3A_000115"	"g.79769711G>A"	""	"{PMID:Perrier 2020:32582862}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009953G>A"	""	"pathogenic (recessive)"	""
"0000936712"	"1"	"90"	"10"	"79781438"	"79781438"	"subst"	"4.07169E-6"	"00006"	"POLR3A_000118"	"g.79781438G>A"	""	"{PMID:Perrier 2020:32582862}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78021680G>A"	""	"pathogenic (recessive)"	""
"0000936713"	"1"	"90"	"10"	"79781438"	"79781438"	"subst"	"4.07169E-6"	"00006"	"POLR3A_000118"	"g.79781438G>A"	""	"{PMID:Perrier 2020:32582862}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78021680G>A"	""	"pathogenic (recessive)"	""
"0000936714"	"1"	"90"	"10"	"79784351"	"79784351"	"del"	"1.62433E-5"	"00006"	"POLR3A_000120"	"g.79784351del"	""	"{PMID:Perrier 2020:32582862}"	""	"601delA"	""	"Germline"	""	""	"0"	""	""	"g.78024593del"	""	"pathogenic (recessive)"	""
"0000936715"	"1"	"90"	"10"	"79742423"	"79742423"	"del"	"0"	"00006"	"POLR3A_000105"	"g.79742423del"	""	"{PMID:Perrier 2020:32582862}"	""	"3583delG"	""	"Germline"	""	""	"0"	""	""	"g.77982665del"	""	"pathogenic (recessive)"	""
"0000936716"	"2"	"90"	"10"	"79769440"	"79769440"	"subst"	"0.000113732"	"00006"	"POLR3A_000010"	"g.79769440G>C"	""	"{PMID:Perrier 2020:32582862}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009682G>C"	""	"pathogenic (recessive)"	""
"0000936717"	"2"	"90"	"10"	"79769440"	"79769440"	"subst"	"0.000113732"	"00006"	"POLR3A_000010"	"g.79769440G>C"	""	"{PMID:Perrier 2020:32582862}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009682G>C"	""	"pathogenic (recessive)"	""
"0000936718"	"2"	"90"	"10"	"79769440"	"79769440"	"subst"	"0.000113732"	"00006"	"POLR3A_000010"	"g.79769440G>C"	""	"{PMID:Perrier 2020:32582862}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009682G>C"	""	"pathogenic (recessive)"	""
"0000936719"	"2"	"90"	"10"	"79769440"	"79769440"	"subst"	"0.000113732"	"00006"	"POLR3A_000010"	"g.79769440G>C"	""	"{PMID:Perrier 2020:32582862}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009682G>C"	""	"pathogenic (recessive)"	""
"0000936720"	"2"	"90"	"10"	"79769440"	"79769440"	"subst"	"0.000113732"	"00006"	"POLR3A_000010"	"g.79769440G>C"	""	"{PMID:Perrier 2020:32582862}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009682G>C"	""	"pathogenic (recessive)"	""
"0000936721"	"2"	"90"	"10"	"79769440"	"79769440"	"subst"	"0.000113732"	"00006"	"POLR3A_000010"	"g.79769440G>C"	""	"{PMID:Perrier 2020:32582862}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009682G>C"	""	"pathogenic (recessive)"	""
"0000936722"	"1"	"90"	"10"	"79781617"	"79781617"	"subst"	"0"	"00006"	"POLR3A_000119"	"g.79781617C>T"	""	"{PMID:La Piana 2016:27029625}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78021859C>T"	""	"pathogenic (recessive)"	""
"0000936723"	"3"	"90"	"10"	"79753032"	"79753032"	"subst"	"4.06448E-6"	"00006"	"POLR3A_000111"	"g.79753032C>T"	""	"{PMID:La Piana 2016:27029625}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77993274C>T"	""	"pathogenic (recessive)"	""
"0000936724"	"1"	"90"	"10"	"79769439"	"79769439"	"subst"	"4.88492E-5"	"00006"	"POLR3A_000003"	"g.79769439G>C"	""	"{PMID:La Piana 2016:27029625}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009681G>C"	""	"pathogenic (recessive)"	""
"0000936726"	"1"	"90"	"10"	"79760831"	"79760831"	"subst"	"0.000268059"	"00006"	"POLR3A_000114"	"g.79760831T>G"	""	"{PMID:La Piana 2016:27029625}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78001073T>G"	""	"pathogenic (recessive)"	""
"0000936727"	"1"	"90"	"10"	"79760831"	"79760831"	"subst"	"0.000268059"	"00006"	"POLR3A_000114"	"g.79760831T>G"	""	"{PMID:La Piana 2016:27029625}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78001073T>G"	""	"pathogenic (recessive)"	""
"0000936729"	"1"	"90"	"10"	"79769273"	"79769273"	"subst"	"0.00136485"	"00006"	"POLR3A_000021"	"g.79769273C>T"	""	"{PMID:La Piana 2016:27029625}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009515C>T"	""	"pathogenic (recessive)"	""
"0000936730"	"2"	"90"	"10"	"79778917"	"79778917"	"subst"	"0"	"00006"	"POLR3A_000117"	"g.79778917T>G"	""	"{PMID:La Piana 2016:27029625}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78019159T>G"	""	"pathogenic (recessive)"	""
"0000936731"	"2"	"90"	"10"	"79744965"	"79744965"	"subst"	"0"	"00006"	"POLR3A_000108"	"g.79744965G>A"	""	"{PMID:La Piana 2016:27029625}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77985207G>A"	""	"pathogenic (recessive)"	""
"0000936733"	"2"	"70"	"10"	"79789200"	"79789200"	"subst"	"0.00137051"	"00006"	"POLR3A_000121"	"g.79789200G>C"	""	"{PMID:La Piana 2016:27029625}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78029442G>C"	""	"likely pathogenic (recessive)"	""
"0000936734"	"2"	"70"	"10"	"79789200"	"79789200"	"subst"	"0.00137051"	"00006"	"POLR3A_000121"	"g.79789200G>C"	""	"{PMID:La Piana 2016:27029625}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78029442G>C"	""	"likely pathogenic (recessive)"	""
"0000936736"	"2"	"90"	"10"	"79759806"	"79759806"	"subst"	"0"	"00006"	"POLR3A_000112"	"g.79759806T>C"	""	"{PMID:La Piana 2016:27029625}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78000048T>C"	""	"pathogenic (recessive)"	""
"0000936746"	"1"	"90"	"10"	"79769718"	"79769718"	"subst"	"0"	"00006"	"POLR3A_000041"	"g.79769718G>C"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009960G>C"	""	"pathogenic (recessive)"	""
"0000936747"	"3"	"90"	"10"	"79767519"	"79767519"	"subst"	"2.03044E-5"	"00006"	"POLR3A_000039"	"g.79767519C>T"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007761C>T"	""	"pathogenic (recessive)"	""
"0000936748"	"3"	"90"	"10"	"79767519"	"79767519"	"subst"	"2.03044E-5"	"00006"	"POLR3A_000039"	"g.79767519C>T"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007761C>T"	""	"pathogenic (recessive)"	""
"0000936749"	"3"	"90"	"10"	"79767519"	"79767519"	"subst"	"2.03044E-5"	"00006"	"POLR3A_000039"	"g.79767519C>T"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007761C>T"	""	"pathogenic (recessive)"	""
"0000936750"	"3"	"90"	"10"	"79767519"	"79767519"	"subst"	"2.03044E-5"	"00006"	"POLR3A_000039"	"g.79767519C>T"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007761C>T"	""	"pathogenic (recessive)"	""
"0000936751"	"3"	"90"	"10"	"79767519"	"79767519"	"subst"	"2.03044E-5"	"00006"	"POLR3A_000039"	"g.79767519C>T"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007761C>T"	""	"pathogenic (recessive)"	""
"0000936752"	"1"	"90"	"10"	"79759801"	"79759801"	"subst"	"8.12176E-6"	"00006"	"POLR3A_000036"	"g.79759801T>C"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78000043T>C"	""	"pathogenic (recessive)"	""
"0000936753"	"1"	"90"	"10"	"79781375"	"79781375"	"subst"	"4.06507E-6"	"00006"	"POLR3A_000042"	"g.79781375C>T"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78021617C>T"	""	"pathogenic (recessive)"	""
"0000936754"	"1"	"90"	"10"	"79750883"	"79750883"	"subst"	"4.06636E-6"	"00006"	"POLR3A_000034"	"g.79750883C>A"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77991125C>A"	""	"pathogenic (recessive)"	""
"0000936755"	"1"	"90"	"10"	"79759801"	"79759801"	"subst"	"8.12176E-6"	"00006"	"POLR3A_000036"	"g.79759801T>C"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78000043T>C"	""	"pathogenic (recessive)"	""
"0000936756"	"1"	"90"	"10"	"79745718"	"79745718"	"subst"	"3.24971E-5"	"00006"	"POLR3A_000049"	"g.79745718C>T"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77985960C>T"	""	"pathogenic (recessive)"	""
"0000936760"	"3"	"90"	"10"	"79784456"	"79784456"	"subst"	"5.28159E-5"	"00006"	"POLR3A_000074"	"g.79784456C>T"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78024698C>T"	""	"pathogenic (recessive)"	""
"0000936761"	"3"	"90"	"10"	"79784456"	"79784456"	"subst"	"5.28159E-5"	"00006"	"POLR3A_000074"	"g.79784456C>T"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78024698C>T"	""	"pathogenic (recessive)"	""
"0000936762"	"3"	"90"	"10"	"79767523"	"79767523"	"subst"	"0"	"00006"	"POLR3A_000060"	"g.79767523A>G"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007765A>G"	""	"pathogenic (recessive)"	""
"0000936763"	"3"	"90"	"10"	"79767523"	"79767523"	"subst"	"0"	"00006"	"POLR3A_000060"	"g.79767523A>G"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007765A>G"	""	"pathogenic (recessive)"	""
"0000936764"	"1"	"90"	"10"	"79769654"	"79769654"	"dup"	"0"	"00006"	"POLR3A_000067"	"g.79769654dup"	""	"{PMID:Wolf 2014:25339210}"	""	"1741insA"	""	"Germline"	""	""	"0"	""	""	"g.78009896dup"	""	"pathogenic (recessive)"	""
"0000936765"	"1"	"90"	"10"	"79781329"	"79781329"	"subst"	"4.06237E-6"	"00006"	"POLR3A_000072"	"g.79781329G>C"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78021571G>C"	""	"pathogenic (recessive)"	""
"0000936766"	"1"	"90"	"10"	"79777463"	"79777463"	"dup"	"0"	"00006"	"POLR3A_000070"	"g.79777463dup"	""	"{PMID:Wolf 2014:25339210}"	""	"1302insA"	""	"Germline"	""	""	"0"	""	""	"g.78017705dup"	""	"pathogenic (recessive)"	""
"0000936767"	"1"	"90"	"10"	"79785426"	"79785426"	"subst"	"0"	"00006"	"POLR3A_000077"	"g.79785426G>A"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78025668G>A"	""	"pathogenic (recessive)"	""
"0000936775"	"1"	"90"	"10"	"79750892"	"79750892"	"subst"	"0"	"00006"	"POLR3A_000051"	"g.79750892T>G"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77991134T>G"	""	"pathogenic (recessive)"	""
"0000936776"	"1"	"90"	"10"	"79779023"	"79779023"	"subst"	"4.06577E-6"	"00006"	"POLR3A_000071"	"g.79779023C>A"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78019265C>A"	""	"pathogenic (recessive)"	""
"0000936777"	"1"	"90"	"10"	"79784855"	"79784857"	"del"	"0"	"00006"	"POLR3A_000076"	"g.79784855_79784857del"	""	"{PMID:Wolf 2014:25339210}"	""	"364_366delAAG"	""	"Germline"	""	""	"0"	""	""	"g.78025097_78025099del"	""	"pathogenic (recessive)"	""
"0000936778"	"1"	"90"	"10"	"79767604"	"79767604"	"subst"	"8.12189E-6"	"00006"	"POLR3A_000063"	"g.79767604C>T"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007846C>T"	""	"pathogenic (recessive)"	""
"0000936781"	"1"	"90"	"10"	"79784399"	"79784400"	"delins"	"0"	"00006"	"POLR3A_000073"	"g.79784399_79784400delinsA"	""	"{PMID:Wolf 2014:25339210}"	""	"c.550_553delinsAAT"	""	"Germline"	""	""	"0"	""	""	"g.78024641_78024642delinsA"	""	"pathogenic (recessive)"	""
"0000936786"	"1"	"90"	"10"	"79745718"	"79745718"	"subst"	"3.24971E-5"	"00006"	"POLR3A_000049"	"g.79745718C>T"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77985960C>T"	""	"pathogenic (recessive)"	""
"0000936787"	"1"	"90"	"10"	"79767519"	"79767519"	"subst"	"2.03044E-5"	"00006"	"POLR3A_000039"	"g.79767519C>T"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007761C>T"	""	"pathogenic (recessive)"	""
"0000936788"	"1"	"90"	"10"	"79769718"	"79769718"	"subst"	"0"	"00006"	"POLR3A_000041"	"g.79769718G>C"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009960G>C"	""	"pathogenic (recessive)"	""
"0000936791"	"1"	"90"	"10"	"79785863"	"79785863"	"subst"	"4.06154E-6"	"00006"	"POLR3A_000067"	"g.79785863C>T"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78026105C>T"	""	"pathogenic (recessive)"	""
"0000936793"	"1"	"90"	"10"	"79773547"	"79773547"	"subst"	"0"	"00006"	"POLR3A_000069"	"g.79773547G>C"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78013789G>C"	""	"pathogenic (recessive)"	""
"0000936811"	"1"	"90"	"10"	"79784778"	"79784778"	"dup"	"0"	"00006"	"POLR3A_000075"	"g.79784778dup"	""	"{PMID:Wolf 2014:25339210}"	""	"441dupT"	""	"Germline"	""	""	"0"	""	""	"g.78025020dup"	""	"pathogenic (recessive)"	""
"0000936812"	"1"	"90"	"10"	"79769409"	"79769409"	"subst"	"0"	"00006"	"POLR3A_000066"	"g.79769409G>T"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009651G>T"	""	"pathogenic (recessive)"	""
"0000936820"	"1"	"90"	"10"	"79767529"	"79767529"	"subst"	"0"	"00006"	"POLR3A_000061"	"g.79767529G>C"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007771G>C"	""	"pathogenic (recessive)"	""
"0000936822"	"3"	"90"	"10"	"79759808"	"79759808"	"subst"	"0"	"00006"	"POLR3A_000055"	"g.79759808G>C"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78000050G>C"	""	"pathogenic (recessive)"	""
"0000936824"	"1"	"90"	"10"	"79767495"	"79767495"	"subst"	"0"	"00006"	"POLR3A_000059"	"g.79767495A>G"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007737A>G"	""	"pathogenic (recessive)"	""
"0000936825"	"1"	"90"	"10"	"79767495"	"79767495"	"subst"	"0"	"00006"	"POLR3A_000059"	"g.79767495A>G"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007737A>G"	""	"pathogenic (recessive)"	""
"0000936830"	"1"	"90"	"10"	"79745830"	"79745830"	"subst"	"2.03051E-5"	"00006"	"POLR3A_000050"	"g.79745830C>A"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77986072C>A"	""	"pathogenic (recessive)"	""
"0000936831"	"1"	"90"	"10"	"79767604"	"79767604"	"subst"	"8.12189E-6"	"00006"	"POLR3A_000063"	"g.79767604C>T"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007846C>T"	""	"pathogenic (recessive)"	""
"0000936834"	"1"	"90"	"10"	"79767523"	"79767523"	"subst"	"0"	"00006"	"POLR3A_000060"	"g.79767523A>G"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007765A>G"	""	"pathogenic (recessive)"	""
"0000936835"	"1"	"90"	"10"	"79769734"	"79769734"	"subst"	"0"	"00006"	"POLR3A_000068"	"g.79769734G>A"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009976G>A"	""	"pathogenic (recessive)"	""
"0000936836"	"3"	"90"	"10"	"79769407"	"79769407"	"subst"	"0"	"00006"	"POLR3A_000065"	"g.79769407C>G"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009649C>G"	""	"pathogenic (recessive)"	""
"0000936837"	"3"	"90"	"10"	"79769407"	"79769407"	"subst"	"0"	"00006"	"POLR3A_000065"	"g.79769407C>G"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009649C>G"	""	"pathogenic (recessive)"	""
"0000936842"	"3"	"90"	"10"	"79759813"	"79759813"	"subst"	"4.06101E-6"	"00006"	"POLR3A_000056"	"g.79759813A>G"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78000055A>G"	""	"pathogenic (recessive)"	""
"0000936845"	"1"	"90"	"10"	"79767519"	"79767519"	"subst"	"2.03044E-5"	"00006"	"POLR3A_000039"	"g.79767519C>T"	""	"{PMID:Wolf 2014:25339210}"	""	""	"no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.78007761C>T"	""	"pathogenic"	""
"0000936851"	"2"	"90"	"10"	"79741933"	"79741935"	"dup"	"0"	"00006"	"POLR3A_000033"	"g.79741933_79741935dup"	""	"{PMID:Wolf 2014:25339210}"	""	"3742insACC"	""	"Germline"	""	""	"0"	""	""	"g.77982175_77982177dup"	""	"pathogenic (recessive)"	""
"0000936852"	"2"	"90"	"10"	"79753126"	"79753126"	"subst"	"2.03363E-5"	"00006"	"POLR3A_000007"	"g.79753126C>T"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77993368C>T"	""	"pathogenic (recessive)"	""
"0000936853"	"2"	"90"	"10"	"79761990"	"79761990"	"subst"	"0"	"00006"	"POLR3A_000037"	"g.79761990T>A"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78002232T>A"	""	"pathogenic (recessive)"	""
"0000936854"	"2"	"90"	"10"	"79745719"	"79745719"	"subst"	"2.03082E-5"	"00006"	"POLR3A_000002"	"g.79745719G>A"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77985961G>A"	""	"pathogenic (recessive)"	""
"0000936855"	"2"	"90"	"10"	"79753126"	"79753126"	"subst"	"2.03363E-5"	"00006"	"POLR3A_000007"	"g.79753126C>T"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77993368C>T"	""	"pathogenic (recessive)"	""
"0000936856"	"2"	"90"	"10"	"79739932"	"79739932"	"subst"	"8.12724E-6"	"00006"	"POLR3A_000001"	"g.79739932C>T"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77980174C>T"	""	"pathogenic (recessive)"	""
"0000936860"	"2"	"90"	"10"	"79769400"	"79769400"	"subst"	"8.12222E-6"	"00006"	"POLR3A_000064"	"g.79769400T>G"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009642T>G"	""	"pathogenic (recessive)"	""
"0000936861"	"2"	"90"	"10"	"79741296"	"79741296"	"subst"	"1.62549E-5"	"00006"	"POLR3A_000046"	"g.79741296C>T"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77981538C>T"	""	"pathogenic (recessive)"	""
"0000936862"	"2"	"90"	"10"	"79759801"	"79759801"	"subst"	"8.12176E-6"	"00006"	"POLR3A_000036"	"g.79759801T>C"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78000043T>C"	""	"pathogenic (recessive)"	""
"0000936863"	"2"	"90"	"10"	"79745719"	"79745719"	"subst"	"2.03082E-5"	"00006"	"POLR3A_000002"	"g.79745719G>A"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77985961G>A"	""	"pathogenic (recessive)"	""
"0000936871"	"2"	"90"	"10"	"79743700"	"79743700"	"subst"	"4.06832E-6"	"00006"	"POLR3A_000048"	"g.79743700C>T"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77983942C>T"	""	"pathogenic (recessive)"	""
"0000936872"	"2"	"90"	"10"	"79767519"	"79767519"	"subst"	"2.03044E-5"	"00006"	"POLR3A_000039"	"g.79767519C>T"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007761C>T"	""	"pathogenic (recessive)"	""
"0000936873"	"2"	"90"	"10"	"79767604"	"79767604"	"subst"	"8.12189E-6"	"00006"	"POLR3A_000063"	"g.79767604C>T"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007846C>T"	""	"pathogenic (recessive)"	""
"0000936874"	"2"	"90"	"10"	"79767599"	"79767599"	"subst"	"4.06085E-6"	"00006"	"POLR3A_000062"	"g.79767599C>G"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007841C>G"	""	"pathogenic (recessive)"	""
"0000936877"	"2"	"90"	"10"	"79745718"	"79745718"	"subst"	"3.24971E-5"	"00006"	"POLR3A_000049"	"g.79745718C>T"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77985960C>T"	""	"pathogenic (recessive)"	""
"0000936881"	"2"	"90"	"10"	"79741296"	"79741296"	"subst"	"1.62549E-5"	"00006"	"POLR3A_000046"	"g.79741296C>T"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77981538C>T"	""	"pathogenic (recessive)"	""
"0000936882"	"2"	"90"	"10"	"79741953"	"79741953"	"subst"	"2.85679E-5"	"00006"	"POLR3A_000047"	"g.79741953C>T"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77982195C>T"	""	"pathogenic (recessive)"	""
"0000936883"	"2"	"90"	"10"	"79767519"	"79767519"	"subst"	"2.03044E-5"	"00006"	"POLR3A_000039"	"g.79767519C>T"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007761C>T"	""	"pathogenic (recessive)"	""
"0000936884"	"2"	"90"	"10"	"79764623"	"79764623"	"subst"	"4.06081E-6"	"00006"	"POLR3A_000058"	"g.79764623T>A"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78004865T>A"	""	"pathogenic (recessive)"	""
"0000936886"	"2"	"90"	"10"	"79767489"	"79767489"	"subst"	"4.06124E-6"	"00006"	"POLR3A_000056"	"g.79767489C>T"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007731C>T"	""	"pathogenic (recessive)"	""
"0000936901"	"2"	"90"	"10"	"79759801"	"79759801"	"subst"	"8.12176E-6"	"00006"	"POLR3A_000036"	"g.79759801T>C"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78000043T>C"	""	"pathogenic (recessive)"	""
"0000936902"	"2"	"90"	"10"	"79741953"	"79741953"	"subst"	"2.85679E-5"	"00006"	"POLR3A_000047"	"g.79741953C>T"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77982195C>T"	""	"pathogenic (recessive)"	""
"0000936910"	"2"	"90"	"10"	"79753124"	"79753124"	"subst"	"0"	"00006"	"POLR3A_000054"	"g.79753124C>T"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77993366C>T"	""	"pathogenic (recessive)"	""
"0000936912"	"2"	"90"	"10"	"79753082"	"79753082"	"subst"	"0"	"00006"	"POLR3A_000053"	"g.79753082T>A"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77993324T>A"	""	"pathogenic (recessive)"	""
"0000936913"	"2"	"90"	"10"	"79753082"	"79753082"	"subst"	"0"	"00006"	"POLR3A_000053"	"g.79753082T>A"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77993324T>A"	""	"pathogenic (recessive)"	""
"0000936918"	"2"	"90"	"10"	"79745719"	"79745719"	"subst"	"2.03082E-5"	"00006"	"POLR3A_000002"	"g.79745719G>A"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77985961G>A"	""	"pathogenic (recessive)"	""
"0000936919"	"2"	"90"	"10"	"79761964"	"79761964"	"subst"	"0"	"00006"	"POLR3A_000057"	"g.79761964C>T"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78002206C>T"	""	"pathogenic (recessive)"	""
"0000936920"	"2"	"90"	"10"	"79750903"	"79750903"	"subst"	"0"	"00006"	"POLR3A_000052"	"g.79750903T>A"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77991145T>A"	""	"pathogenic (recessive)"	""
"0000936921"	"2"	"90"	"10"	"79759801"	"79759801"	"subst"	"8.12176E-6"	"00006"	"POLR3A_000036"	"g.79759801T>C"	""	"{PMID:Wolf 2014:25339210}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78000043T>C"	""	"pathogenic (recessive)"	""
"0000936931"	"1"	"90"	"10"	"79769440"	"79769440"	"subst"	"0.000113732"	"00006"	"POLR3A_000010"	"g.79769440G>C"	""	"{PMID:Harting 2020:31940116}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009682G>C"	""	"pathogenic (recessive)"	""
"0000936932"	"1"	"90"	"10"	"79769440"	"79769440"	"subst"	"0.000113732"	"00006"	"POLR3A_000010"	"g.79769440G>C"	""	"{PMID:Harting 2020:31940116}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009682G>C"	""	"pathogenic (recessive)"	""
"0000936933"	"1"	"90"	"10"	"79769440"	"79769440"	"subst"	"0.000113732"	"00006"	"POLR3A_000010"	"g.79769440G>C"	""	"{PMID:Harting 2020:31940116}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009682G>C"	""	"pathogenic (recessive)"	""
"0000936934"	"1"	"90"	"10"	"79769440"	"79769440"	"subst"	"0.000113732"	"00006"	"POLR3A_000010"	"g.79769440G>C"	""	"{PMID:Harting 2020:31940116}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009682G>C"	""	"pathogenic (recessive)"	""
"0000936935"	"1"	"90"	"10"	"79769440"	"79769440"	"subst"	"0.000113732"	"00006"	"POLR3A_000010"	"g.79769440G>C"	""	"{PMID:Harting 2020:31940116}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009682G>C"	""	"pathogenic (recessive)"	""
"0000936936"	"1"	"90"	"10"	"79769440"	"79769440"	"subst"	"0.000113732"	"00006"	"POLR3A_000010"	"g.79769440G>C"	""	"{PMID:Harting 2020:31940116}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009682G>C"	""	"pathogenic (recessive)"	""
"0000936937"	"3"	"90"	"10"	"79769439"	"79769439"	"subst"	"4.88492E-5"	"00006"	"POLR3A_000003"	"g.79769439G>C"	""	"{PMID:Harting 2020:31940116}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009681G>C"	""	"pathogenic (recessive)"	""
"0000936938"	"3"	"90"	"10"	"79769439"	"79769439"	"subst"	"4.88492E-5"	"00006"	"POLR3A_000003"	"g.79769439G>C"	""	"{PMID:Harting 2020:31940116}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009681G>C"	""	"pathogenic (recessive)"	""
"0000936939"	"1"	"90"	"10"	"79769439"	"79769439"	"subst"	"4.88492E-5"	"00006"	"POLR3A_000003"	"g.79769439G>C"	""	"{PMID:Harting 2020:31940116}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009681G>C"	""	"pathogenic (recessive)"	""
"0000936940"	"2"	"90"	"10"	"79781613"	"79781613"	"subst"	"4.06227E-6"	"00006"	"POLR3A_000019"	"g.79781613C>A"	""	"{PMID:Harting 2020:31940116}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78021855C>A"	""	"pathogenic (recessive)"	""
"0000936941"	"2"	"90"	"10"	"79737385"	"79737385"	"subst"	"4.06184E-6"	"00006"	"POLR3A_000103"	"g.79737385C>T"	""	"{PMID:Harting 2020:31940116}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77977627C>T"	""	"pathogenic (recessive)"	""
"0000936942"	"2"	"90"	"10"	"79753029"	"79753029"	"subst"	"0"	"00006"	"POLR3A_000101"	"g.79753029C>T"	""	"{PMID:Harting 2020:31940116}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77993271C>T"	""	"pathogenic (recessive)"	""
"0000936943"	"2"	"70"	"10"	"79743720"	"79743720"	"subst"	"0"	"00006"	"POLR3A_000106"	"g.79743720G>T"	""	"{PMID:Harting 2020:31940116}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77983962G>T"	""	"likely pathogenic (recessive)"	""
"0000936944"	"2"	"90"	"10"	"79750904"	"79750904"	"subst"	"0"	"00006"	"POLR3A_000110"	"g.79750904C>T"	""	"{PMID:Harting 2020:31940116}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77991146C>T"	""	"pathogenic (recessive)"	""
"0000936945"	"2"	"90"	"10"	"79769439"	"79769439"	"subst"	"4.88492E-5"	"00006"	"POLR3A_000003"	"g.79769439G>C"	""	"{PMID:Harting 2020:31940116}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009681G>C"	""	"pathogenic (recessive)"	""
"0000936946"	"2"	"90"	"10"	"79767489"	"79767489"	"subst"	"4.06124E-6"	"00006"	"POLR3A_000056"	"g.79767489C>T"	""	"{PMID:Harting 2020:31940116}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78007731C>T"	""	"pathogenic (recessive)"	""
"0000949451"	"0"	"30"	"10"	"79769647"	"79769647"	"subst"	"0.00857644"	"01804"	"POLR3A_000096"	"g.79769647C>A"	""	""	""	"POLR3A(NM_007055.3):c.1745G>T (p.(Arg582Leu)), POLR3A(NM_007055.4):c.1745G>T (p.R582L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000979167"	"0"	"50"	"10"	"79742569"	"79742569"	"subst"	"0.000768393"	"01804"	"POLR3A_000095"	"g.79742569C>T"	""	""	""	"POLR3A(NM_007055.3):c.3436G>A (p.A1146T), POLR3A(NM_007055.4):c.3436G>A (p.(Ala1146Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000979168"	"0"	"50"	"10"	"79745704"	"79745704"	"subst"	"0"	"01804"	"POLR3A_000122"	"g.79745704G>T"	""	""	""	"POLR3A(NM_007055.4):c.3028C>A (p.(Gln1010Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000979169"	"0"	"30"	"10"	"79760740"	"79760740"	"subst"	"0.00186113"	"01804"	"POLR3A_000009"	"g.79760740G>A"	""	""	""	"POLR3A(NM_007055.3):c.2472C>T (p.H824=), POLR3A(NM_007055.4):c.2472C>T (p.(His824=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000979170"	"0"	"90"	"10"	"79769273"	"79769273"	"subst"	"0.00136485"	"01804"	"POLR3A_000021"	"g.79769273C>T"	""	""	""	"POLR3A(NM_007055.3):c.1909+22G>A, POLR3A(NM_007055.4):c.1909+22G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000979171"	"0"	"90"	"10"	"79769277"	"79769277"	"subst"	"0"	"02327"	"POLR3A_000018"	"g.79769277C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000979172"	"0"	"30"	"10"	"79769444"	"79769444"	"dup"	"0"	"01804"	"POLR3A_000123"	"g.79769444dup"	""	""	""	"POLR3A(NM_007055.4):c.1771-5dup"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000979173"	"0"	"50"	"10"	"79781326"	"79781326"	"subst"	"1.62487E-5"	"01804"	"POLR3A_000124"	"g.79781326T>C"	""	""	""	"POLR3A(NM_007055.4):c.1163A>G (p.(Lys388Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000979174"	"0"	"30"	"10"	"79782047"	"79782047"	"subst"	"0.00453323"	"01804"	"POLR3A_000125"	"g.79782047C>T"	""	""	""	"POLR3A(NM_007055.4):c.741G>A (p.(Pro247=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000979175"	"0"	"30"	"10"	"79785373"	"79785373"	"subst"	"0"	"01804"	"POLR3A_000126"	"g.79785373T>G"	""	""	""	"POLR3A(NM_007055.4):c.318+7A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000998543"	"0"	"30"	"10"	"79745881"	"79745881"	"subst"	"0.006125"	"01804"	"POLR3A_000127"	"g.79745881T>C"	""	""	""	"POLR3A(NM_007055.3):c.2938A>G (p.(Ile980Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000998544"	"0"	"30"	"10"	"79769668"	"79769668"	"subst"	"0.00392281"	"01804"	"POLR3A_000077"	"g.79769668T>A"	""	""	""	"POLR3A(NM_007055.3):c.1724A>T (p.(Lys575Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001011897"	"3"	"90"	"10"	"79760741"	"79760741"	"subst"	"0"	"00006"	"POLR3A_000128"	"g.79760741T>G"	""	"{PMID:Salinas 2020:33084218}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78000983T>G"	"VCV000590969.1"	"pathogenic (recessive)"	""
"0001014661"	"0"	"50"	"10"	"79785403"	"79785403"	"subst"	"0"	"02325"	"POLR3A_000129"	"g.79785403T>C"	""	""	""	"POLR3A(NM_007055.4):c.295A>G (p.R99G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001029726"	"21"	"70"	"10"	"79743627"	"79743627"	"subst"	"0"	"04409"	"POLR3A_000130"	"g.79743627T>C"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.77983869T>C"	""	"pathogenic (recessive)"	"ACMG"
"0001029730"	"21"	"70"	"10"	"79789117"	"79789117"	"subst"	"0"	"04409"	"POLR3A_000132"	"g.79789117C>G"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.78029359C>G"	""	"VUS"	"ACMG"
"0001038029"	"0"	"50"	"10"	"79741239"	"79741239"	"subst"	"0"	"01804"	"POLR3A_000133"	"g.79741239T>C"	""	""	""	"POLR3A(NM_007055.4):c.3838A>G (p.(Met1280Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001038030"	"0"	"30"	"10"	"79741327"	"79741327"	"subst"	"2.43968E-5"	"01804"	"POLR3A_000134"	"g.79741327G>C"	""	""	""	"POLR3A(NM_007055.4):c.3760-10C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001038031"	"0"	"50"	"10"	"79742502"	"79742502"	"subst"	"1.21841E-5"	"01804"	"POLR3A_000135"	"g.79742502T>G"	""	""	""	"POLR3A(NM_007055.4):c.3503A>C (p.(His1168Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001038032"	"0"	"50"	"10"	"79745036"	"79745036"	"subst"	"8.14213E-6"	"01804"	"POLR3A_000136"	"g.79745036C>G"	""	""	""	"POLR3A(NM_007055.4):c.3134G>C (p.(Gly1045Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001038033"	"0"	"50"	"10"	"79745731"	"79745731"	"subst"	"0"	"01804"	"POLR3A_000137"	"g.79745731A>G"	""	""	""	"POLR3A(NM_007055.4):c.3001T>C (p.(Tyr1001His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001038034"	"0"	"10"	"10"	"79745735"	"79745735"	"subst"	"0.013554"	"01804"	"POLR3A_000138"	"g.79745735C>A"	""	""	""	"POLR3A(NM_007055.4):c.2997G>T (p.(Val999=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0001038035"	"0"	"50"	"10"	"79752963"	"79752963"	"subst"	"0"	"01804"	"POLR3A_000139"	"g.79752963T>C"	""	""	""	"POLR3A(NM_007055.4):c.2779A>G (p.(Asn927Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001038037"	"0"	"50"	"10"	"79760817"	"79760817"	"subst"	"8.12348E-6"	"01804"	"POLR3A_000141"	"g.79760817C>G"	""	""	""	"POLR3A(NM_007055.4):c.2395G>C (p.(Val799Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001038038"	"0"	"50"	"10"	"79777479"	"79777479"	"subst"	"0"	"01804"	"POLR3A_000142"	"g.79777479A>G"	""	""	""	"POLR3A(NM_007055.4):c.1290-5T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001038039"	"0"	"30"	"10"	"79785990"	"79785990"	"subst"	"0"	"01804"	"POLR3A_000143"	"g.79785990G>A"	""	""	""	"POLR3A(NM_007055.4):c.45-3C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001048038"	"0"	"70"	"10"	"79781411"	"79781411"	"subst"	"0"	"00006"	"POLR3A_000150"	"g.79781411T>C"	""	"{DOI:Ramos 2025:10.1101/2025.07.16.25331559}"	""	""	"ACMG PP2, PP3(moderate), PM2, PS3"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.78021653T>C"	""	"likely pathogenic (dominant)"	""
"0001048039"	"1"	"70"	"10"	"79781411"	"79781411"	"subst"	"0"	"00006"	"POLR3A_000150"	"g.79781411T>C"	""	"{DOI:Ramos 2025:10.1101/2025.07.16.25331559}"	""	""	"ACMG PP2, PP3(moderate), PM2, PS4"	"Germline"	""	""	"0"	""	""	"g.78021653T>C"	""	"likely pathogenic (dominant)"	""
"0001048040"	"1"	"70"	"10"	"79781411"	"79781411"	"subst"	"0"	"00006"	"POLR3A_000150"	"g.79781411T>C"	""	"{DOI:Ramos 2025:10.1101/2025.07.16.25331559}"	""	""	"ACMG PP2, PP3(moderate), PM2, PS5"	"Germline"	""	""	"0"	""	""	"g.78021653T>C"	""	"likely pathogenic (dominant)"	""
"0001048041"	"0"	"90"	"10"	"79762044"	"79762044"	"subst"	"0"	"00006"	"POLR3A_000149"	"g.79762044G>A"	""	"{DOI:Ramos 2025:10.1101/2025.07.16.25331559}"	""	""	"ACMG PP2, PP3(moderate), PM2, PS2, PS3"	"De novo"	""	""	"0"	""	""	"g.78002286G>A"	""	"pathogenic (dominant)"	""
"0001048042"	"0"	"70"	"10"	"79762036"	"79762036"	"subst"	"0"	"00006"	"POLR3A_000148"	"g.79762036G>A"	""	"{DOI:Ramos 2025:10.1101/2025.07.16.25331559}"	""	""	"ACMG PP2, PP3(moderate), PM2, PS3"	"De novo"	""	""	"0"	""	""	"g.78002278G>A"	""	"likely pathogenic (dominant)"	""
"0001048043"	"0"	"70"	"10"	"79762036"	"79762036"	"subst"	"0"	"00006"	"POLR3A_000148"	"g.79762036G>A"	""	"{DOI:Ramos 2025:10.1101/2025.07.16.25331559}"	""	""	"ACMG PP2, PP3(moderate), PM2, PS3"	"De novo"	""	""	"0"	""	""	"g.78002278G>A"	""	"likely pathogenic (dominant)"	""
"0001048044"	"0"	"90"	"10"	"79761957"	"79761957"	"subst"	"0"	"00006"	"POLR3A_000147"	"g.79761957T>C"	""	"{DOI:Ramos 2025:10.1101/2025.07.16.25331559}"	""	""	"ACMG PP2, PP3, PM2, PS2, PS3"	"De novo"	""	""	"0"	""	""	"g.78002199T>C"	""	"pathogenic (dominant)"	""
"0001048045"	"0"	"90"	"10"	"79759807"	"79759807"	"subst"	"0"	"00006"	"POLR3A_000146"	"g.79759807G>T"	""	"{DOI:Ramos 2025:10.1101/2025.07.16.25331559}"	""	""	"ACMG PP2, PP3(moderate), PM2, PS2, PS3"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.78000049G>T"	""	"pathogenic (dominant)"	""
"0001048046"	"1"	"90"	"10"	"79759807"	"79759807"	"subst"	"0"	"00006"	"POLR3A_000146"	"g.79759807G>T"	""	"{DOI:Ramos 2025:10.1101/2025.07.16.25331559}"	""	""	"ACMG PP2, PP3(moderate), PM2, PS2, PS3"	"Germline"	""	""	"0"	""	""	"g.78000049G>T"	""	"pathogenic (dominant)"	""
"0001048047"	"0"	"90"	"10"	"79759797"	"79759797"	"subst"	"0"	"00006"	"POLR3A_000145"	"g.79759797G>A"	""	"{DOI:Ramos 2025:10.1101/2025.07.16.25331559}"	""	""	"ACMG PP2, PM2, PS2, PS3"	"De novo"	""	""	"0"	""	""	"g.78000039G>A"	""	"pathogenic (dominant)"	""
"0001048048"	"0"	"90"	"10"	"79759795"	"79759795"	"subst"	"0"	"00006"	"POLR3A_000144"	"g.79759795C>T"	""	"{DOI:Ramos 2025:10.1101/2025.07.16.25331559}"	""	""	"ACMG PP2, PM2, PS2, PS3"	"De novo"	""	""	"0"	""	""	"g.78000037C>T"	""	"pathogenic (dominant)"	""
"0001053610"	"0"	"10"	"10"	"79739936"	"79739936"	"subst"	"0.00112143"	"01804"	"POLR3A_000045"	"g.79739936A>G"	""	""	""	"POLR3A(NM_007055.3):c.3987T>C (p.F1329=), POLR3A(NM_007055.4):c.3987T>C (p.(Phe1329=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0001053611"	"0"	"50"	"10"	"79741973"	"79741973"	"subst"	"8.14246E-5"	"01804"	"POLR3A_000151"	"g.79741973C>T"	""	""	""	"POLR3A(NM_007055.4):c.3698G>A (p.(Arg1233Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001053612"	"0"	"50"	"10"	"79741998"	"79741998"	"subst"	"0"	"01804"	"POLR3A_000152"	"g.79741998G>A"	""	""	""	"POLR3A(NM_007055.4):c.3673C>T (p.(Leu1225Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001053613"	"0"	"10"	"10"	"79742011"	"79742011"	"subst"	"0.00315429"	"01804"	"POLR3A_000153"	"g.79742011C>T"	""	""	""	"POLR3A(NM_007055.4):c.3660G>A (p.(Lys1220=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0001053614"	"0"	"50"	"10"	"79742529"	"79742529"	"subst"	"0.000215283"	"01804"	"POLR3A_000070"	"g.79742529C>T"	""	""	""	"POLR3A(NM_007055.3):c.3476G>A (p.R1159H), POLR3A(NM_007055.4):c.3476G>A (p.(Arg1159His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001053615"	"0"	"30"	"10"	"79764466"	"79764466"	"subst"	"0.000813757"	"01804"	"POLR3A_000154"	"g.79764466G>A"	""	""	""	"POLR3A(NM_007055.4):c.2247+8C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001053616"	"0"	"90"	"10"	"79769439"	"79769439"	"subst"	"4.88492E-5"	"01804"	"POLR3A_000003"	"g.79769439G>C"	""	""	""	"POLR3A(NM_007055.4):c.1771-6C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001053617"	"0"	"90"	"10"	"79769440"	"79769440"	"subst"	"0.000113732"	"01804"	"POLR3A_000010"	"g.79769440G>C"	""	""	""	"POLR3A(NM_007055.4):c.1771-7C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001053618"	"0"	"50"	"10"	"79785399"	"79785399"	"subst"	"0"	"01804"	"POLR3A_000155"	"g.79785399G>A"	""	""	""	"POLR3A(NM_007055.4):c.299C>T (p.(Ala100Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes POLR3A
## Count = 405
"{{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}}"
"0000174326"	"00016516"	"70"	"2690"	"0"	"2690"	"0"	"c.2690T>A"	"r.(?)"	"p.(Ile897Asn)"	"20"
"0000174327"	"00016516"	"70"	"3013"	"0"	"3013"	"0"	"c.3013C>T"	"r.(?)"	"p.(Arg1005Cys)"	"23"
"0000237848"	"00016516"	"70"	"1771"	"-6"	"1771"	"-6"	"c.1771-6C>G"	"r.(1771_1909del)"	"p.(Pro591Metfs*9)"	"13i"
"0000245377"	"00016516"	"70"	"1771"	"-7"	"1771"	"-7"	"c.1771-7C>G"	"r.(1771_1909del)"	"p.(Pro591Metfs*9)"	""
"0000301126"	"00016516"	"90"	"2617"	"-1"	"2617"	"-1"	"c.2617-1G>A"	"r.spl?"	"p.?"	""
"0000306135"	"00016516"	"10"	"1745"	"0"	"1745"	"0"	"c.1745G>A"	"r.(?)"	"p.(Arg582His)"	""
"0000306136"	"00016516"	"30"	"2472"	"0"	"2472"	"0"	"c.2472C>T"	"r.(?)"	"p.(His824=)"	""
"0000306137"	"00016516"	"30"	"927"	"0"	"927"	"0"	"c.927C>T"	"r.(?)"	"p.(Asp309=)"	""
"0000321637"	"00016516"	"50"	"3787"	"0"	"3787"	"0"	"c.3787G>T"	"r.(?)"	"p.(Ala1263Ser)"	""
"0000321638"	"00016516"	"50"	"3487"	"0"	"3487"	"0"	"c.3487G>A"	"r.(?)"	"p.(Gly1163Ser)"	""
"0000321639"	"00016516"	"50"	"2798"	"0"	"2798"	"0"	"c.2798C>T"	"r.(?)"	"p.(Pro933Leu)"	""
"0000321640"	"00016516"	"50"	"2510"	"0"	"2510"	"0"	"c.2510G>A"	"r.(?)"	"p.(Ser837Asn)"	""
"0000321641"	"00016516"	"50"	"740"	"0"	"740"	"0"	"c.740C>T"	"r.(?)"	"p.(Pro247Leu)"	""
"0000340475"	"00016516"	"30"	"2604"	"0"	"2604"	"0"	"c.2604G>A"	"r.(?)"	"p.(Thr868=)"	""
"0000342434"	"00016516"	"90"	"760"	"0"	"760"	"0"	"c.760C>T"	"r.(?)"	"p.(Arg254Ter)"	""
"0000348106"	"00016516"	"90"	"2913"	"0"	"2913"	"0"	"c.2913dup"	"r.(?)"	"p.(Phe972IlefsTer3)"	""
"0000438460"	"00016516"	"90"	"3206"	"0"	"3206"	"0"	"c.3206G>A"	"r.(?)"	"p.(Arg1069Gln)"	""
"0000438461"	"00016516"	"90"	"1909"	"18"	"1909"	"18"	"c.1909+18G>A"	"r.spl"	"p.(=)"	""
"0000438463"	"00016516"	"90"	"1048"	"5"	"1048"	"5"	"c.1048+5G>T"	"r.1048_1049ins[guagu;1048+6_1049-1]"	"p.Arg353Profs*24"	""
"0000438465"	"00016516"	"90"	"3337"	"-11"	"3337"	"-11"	"c.3337-11T>C"	"r.3337_3429del"	"p..Ile1113_Glu1143del"	""
"0000438466"	"00016516"	"50"	"1909"	"22"	"1909"	"22"	"c.1909+22G>A"	"r.[=,1771_1909del]"	"p.[=,Pro59fs]"	""
"0000438468"	"00016516"	"50"	"1909"	"22"	"1909"	"22"	"c.1909+22G>A"	"r.[(=,1771_1909del)]"	"p.[(=,Pro591Metfs*9)]"	""
"0000438469"	"00016516"	"90"	"3337"	"-11"	"3337"	"-11"	"c.3337-11T>C"	"r.(3337_3429del)"	"p.(Ile1113_Glu1143del)"	""
"0000438471"	"00016516"	"90"	"2474"	"0"	"2474"	"0"	"c.2474C>G"	"r.(?)"	"p.(Ser825*)"	""
"0000438472"	"00016516"	"90"	"1800"	"0"	"1800"	"0"	"c.1800C>T"	"r.[1771_1909del,=]"	"p.[Pro591Metfs*9,=]"	""
"0000438473"	"00016516"	"50"	"1909"	"22"	"1909"	"22"	"c.1909+22G>A"	"r.[=,1771_1909del]"	"p.[=,Pro59Metfs*9]"	""
"0000438474"	"00016516"	"90"	"3337"	"-11"	"3337"	"-11"	"c.3337-11T>C"	"r.3337_3429del"	"p.Ile1113_Glu1143del"	""
"0000438475"	"00016516"	"90"	"2617"	"-1"	"2617"	"-1"	"c.2617-1G>A"	"r.spl"	"p.?"	""
"0000438476"	"00016516"	"50"	"1909"	"22"	"1909"	"22"	"c.1909+22G>A"	"r.[(=,1771_1909del)]"	"p.[(=,Pro591Metfs*9)]"	""
"0000438477"	"00016516"	"90"	"3337"	"-11"	"3337"	"-11"	"c.3337-11T>C"	"r.(3337_3429del)"	"p.(Ile1113_Glu1143del)"	""
"0000438478"	"00016516"	"90"	"3772"	"0"	"3773"	"0"	"c.3772_3773del"	"r.(?)"	"p.(Leu1258Glyfs*12)"	""
"0000438479"	"00016516"	"50"	"1909"	"22"	"1909"	"22"	"c.1909+22G>A"	"r.[(=,1771_1909del)]"	"p.[(=,Pro591Metfs*9)]"	""
"0000438480"	"00016516"	"50"	"3337"	"-11"	"3337"	"-11"	"c.3337-11T>C"	"r.(3337_3429del)"	"p.(Ile1113_Glu1143del)"	""
"0000438481"	"00016516"	"90"	"3772"	"0"	"3773"	"0"	"c.3772_3773del"	"r.(?)"	"p.(Leu1258Glyfs*12)"	""
"0000438483"	"00016516"	"90"	"4003"	"0"	"4003"	"0"	"c.4003G>A"	"r.(?)"	"p.(Gly1335Arg)"	""
"0000438484"	"00016516"	"50"	"4191"	"0"	"4191"	"0"	"c.*18C>T"	"r.(=)"	"p.(=)"	""
"0000438485"	"00016516"	"50"	"4191"	"0"	"4191"	"0"	"c.*18C>T"	"r.(=)"	"p.(=)"	""
"0000438486"	"00016516"	"90"	"3"	"0"	"3"	"0"	"c.3G>T"	"r.(?)"	"p.0?"	""
"0000438487"	"00016516"	"70"	"3874"	"0"	"3874"	"0"	"c.3874G>A"	"r.(?)"	"p.(Asp1292Asn)"	""
"0000438488"	"00016516"	"70"	"2707"	"0"	"2707"	"0"	"c.2707G>A"	"r.(?)"	"p.(Gly903Arg)"	""
"0000438489"	"00016516"	"70"	"3392"	"0"	"3392"	"0"	"c.3392A>G"	"r.(?)"	"p.(Lys1131Arg)"	""
"0000438490"	"00016516"	"90"	"1573"	"-1"	"2074"	"1"	"c.(1572+1_1573-1)_(2074+1_2075-1)del"	"r.?"	"p.?"	"11i_15i"
"0000438496"	"00016516"	"90"	"1674"	"0"	"1674"	"0"	"c.1674C>G"	"r.(?)"	"p.(Phe558Leu)"	"13"
"0000438497"	"00016516"	"90"	"2015"	"0"	"2015"	"0"	"c.2015G>A"	"r.(?)"	"p.(Gly672Glu)"	"15"
"0000438498"	"00016516"	"90"	"2015"	"0"	"2015"	"0"	"c.2015G>A"	"r.(?)"	"p.(Gly672Glu)"	"15"
"0000438499"	"00016516"	"90"	"2015"	"0"	"2015"	"0"	"c.2015G>A"	"r.(?)"	"p.(Gly672Glu)"	"15"
"0000438500"	"00016516"	"90"	"2015"	"0"	"2015"	"0"	"c.2015G>A"	"r.(?)"	"p.(Gly672Glu)"	"15"
"0000438501"	"00016516"	"90"	"2015"	"0"	"2015"	"0"	"c.2015G>A"	"r.(?)"	"p.(Gly672Glu)"	"15"
"0000438502"	"00016516"	"90"	"2554"	"0"	"2554"	"0"	"c.2554A>G"	"r.(?)"	"p.(Met852Val)"	"19"
"0000438503"	"00016516"	"90"	"2324"	"0"	"2324"	"0"	"c.2324A>T"	"r.(?)"	"p.(Asn775Ile)"	"17"
"0000438504"	"00016516"	"90"	"2830"	"0"	"2830"	"0"	"c.2830G>T"	"r.(?)"	"p.(Glu944*)"	"21"
"0000438505"	"00016516"	"90"	"2554"	"0"	"2554"	"0"	"c.2554A>G"	"r.(?)"	"p.(Met852Val)"	"19"
"0000438506"	"00016516"	"90"	"4006"	"0"	"4006"	"0"	"c.4006C>T"	"r.(?)"	"p.(Gln1336*)"	"30"
"0000438507"	"00016516"	"90"	"1909"	"18"	"1909"	"18"	"c.1909+18G>A"	"r.[=,1909_1910ins[1909+1_1909+17;ag]]"	"p.[=,Tyr637Cysfs*14]"	"14i"
"0000438508"	"00016516"	"90"	"1909"	"18"	"1909"	"18"	"c.1909+18G>A"	"r.[=,1909_1910ins[1909+1_1909+17;ag]]"	"p.[=,Tyr637Cysfs*14]"	"14i"
"0000438509"	"00016516"	"90"	"1909"	"18"	"1909"	"18"	"c.1909+18G>A"	"r.[=,1909_1910ins[1909+1_1909+17;ag]]"	"p.[=,Tyr637Cysfs*14]"	"14i"
"0000438510"	"00016516"	"90"	"1909"	"18"	"1909"	"18"	"c.1909+18G>A"	"r.[=,1909_1910ins[1909+1_1909+17;ag]]"	"p.[=,Tyr637Cysfs*14]"	"14i"
"0000438511"	"00016516"	"90"	"1909"	"18"	"1909"	"18"	"c.1909+18G>A"	"r.[=,1909_1910ins[1909+1_1909+17;ag]]"	"p.[=,Tyr637Cysfs*14]"	"14i"
"0000438512"	"00016516"	"90"	"1909"	"18"	"1909"	"18"	"c.1909+18G>A"	"r.[=,1909_1910ins[1909+1_1909+17;ag]]"	"p.[=,Tyr637Cysfs*14]"	"14i"
"0000438513"	"00016516"	"90"	"418"	"0"	"418"	"0"	"c.418C>T"	"r.(?)"	"p.(Arg140*)"	"4"
"0000438514"	"00016516"	"90"	"2171"	"0"	"2171"	"0"	"c.2171G>A"	"r.(?)"	"p.(Cys724Tyr)"	"16"
"0000438515"	"00016516"	"90"	"3739"	"0"	"3741"	"0"	"c.3739_3741dup"	"r.(?)"	"p.(Thr1247dup)"	"28"
"0000438516"	"00016516"	"90"	"2617"	"-1"	"2617"	"-1"	"c.2617-1G>A"	"r.[(2617_2621del)]"	"p.(Arg873Alafs*6)"	"19i"
"0000438517"	"00016516"	"90"	"1114"	"0"	"1114"	"0"	"c.1114G>A"	"r.(?)"	"p.(Asp372Asn)"	"8"
"0000438518"	"00016516"	"90"	"3013"	"0"	"3013"	"0"	"c.3013C>T"	"r.(?)"	"p.(Arg1005Cys)"	"23"
"0000438519"	"00016516"	"90"	"2617"	"-1"	"2617"	"-1"	"c.2617-1G>A"	"r.[(2617_2621del)]"	"p.(Arg873Alafs*6)"	"19i"
"0000438520"	"00016516"	"90"	"1907"	"0"	"1907"	"0"	"c.1907C>A"	"r.(?)"	"p.(Ser636Tyr)"	"14"
"0000438521"	"00016516"	"90"	"2554"	"0"	"2554"	"0"	"c.2554A>G"	"r.(?)"	"p.(Met852Val)"	"19"
"0000541040"	"00016516"	"50"	"4072"	"0"	"4072"	"0"	"c.4072G>A"	"r.(?)"	"p.(Gly1358Arg)"	""
"0000541041"	"00016516"	"10"	"3987"	"0"	"3987"	"0"	"c.3987T>C"	"r.(?)"	"p.(Phe1329=)"	""
"0000541042"	"00016516"	"50"	"3781"	"0"	"3781"	"0"	"c.3781G>A"	"r.(?)"	"p.(Glu1261Lys)"	""
"0000541043"	"00016516"	"30"	"3734"	"0"	"3734"	"0"	"c.3734G>A"	"r.(?)"	"p.(Arg1245Gln)"	""
"0000541044"	"00016516"	"30"	"3734"	"0"	"3734"	"0"	"c.3734G>A"	"r.(?)"	"p.(Arg1245Gln)"	""
"0000541045"	"00016516"	"50"	"3646"	"0"	"3646"	"0"	"c.3646G>A"	"r.(?)"	"p.(Glu1216Lys)"	""
"0000541046"	"00016516"	"10"	"3279"	"0"	"3279"	"0"	"c.3279C>T"	"r.(?)"	"p.(Asp1093=)"	""
"0000541047"	"00016516"	"30"	"2993"	"0"	"2993"	"0"	"c.2993G>A"	"r.(?)"	"p.(Arg998His)"	""
"0000541049"	"00016516"	"30"	"2580"	"0"	"2580"	"0"	"c.2580C>T"	"r.(?)"	"p.(Asp860=)"	""
"0000541050"	"00016516"	"30"	"2433"	"0"	"2433"	"0"	"c.2433C>T"	"r.(?)"	"p.(Asp811=)"	""
"0000541051"	"00016516"	"30"	"2344"	"0"	"2344"	"0"	"c.2344C>T"	"r.(?)"	"p.(Leu782=)"	""
"0000541052"	"00016516"	"90"	"2119"	"0"	"2119"	"0"	"c.2119C>T"	"r.(?)"	"p.(Gln707Ter)"	""
"0000541054"	"00016516"	"70"	"2010"	"0"	"2010"	"0"	"c.2010C>G"	"r.(?)"	"p.(Asp670Glu)"	""
"0000541055"	"00016516"	"70"	"1909"	"22"	"1909"	"22"	"c.1909+22G>A"	"r.(=)"	"p.(=)"	""
"0000541058"	"00016516"	"50"	"1771"	"-6"	"1771"	"-6"	"c.1771-6C>A"	"r.(=)"	"p.(=)"	""
"0000541059"	"00016516"	"50"	"1624"	"0"	"1624"	"0"	"c.1624A>G"	"r.(?)"	"p.(Ile542Val)"	""
"0000541060"	"00016516"	"30"	"1380"	"0"	"1380"	"0"	"c.1380G>A"	"r.(?)"	"p.(Val460=)"	""
"0000541061"	"00016516"	"30"	"1345"	"0"	"1345"	"0"	"c.1345A>G"	"r.(?)"	"p.(Ile449Val)"	""
"0000541062"	"00016516"	"30"	"1329"	"0"	"1329"	"0"	"c.1329G>C"	"r.(?)"	"p.(Glu443Asp)"	""
"0000541063"	"00016516"	"30"	"1302"	"0"	"1302"	"0"	"c.1302C>T"	"r.(?)"	"p.(Tyr434=)"	""
"0000541064"	"00016516"	"70"	"760"	"0"	"760"	"0"	"c.760C>T"	"r.(?)"	"p.(Arg254Ter)"	""
"0000541065"	"00016516"	"50"	"740"	"0"	"740"	"0"	"c.740C>T"	"r.(?)"	"p.(Pro247Leu)"	""
"0000541066"	"00016516"	"30"	"438"	"0"	"438"	"0"	"c.438C>T"	"r.(?)"	"p.(Ile146=)"	""
"0000541067"	"00016516"	"30"	"229"	"0"	"229"	"0"	"c.229G>T"	"r.(?)"	"p.(Ala77Ser)"	""
"0000541068"	"00016516"	"50"	"212"	"0"	"212"	"0"	"c.212C>G"	"r.(?)"	"p.(Thr71Ser)"	""
"0000541069"	"00016516"	"50"	"169"	"0"	"169"	"0"	"c.169G>A"	"r.(?)"	"p.(Asp57Asn)"	""
"0000541070"	"00016516"	"30"	"156"	"0"	"156"	"0"	"c.156A>G"	"r.(?)"	"p.(Leu52=)"	""
"0000541071"	"00016516"	"90"	"103"	"0"	"103"	"0"	"c.103C>T"	"r.(?)"	"p.(Gln35Ter)"	""
"0000612684"	"00016516"	"50"	"3476"	"0"	"3476"	"0"	"c.3476G>A"	"r.(?)"	"p.(Arg1159His)"	""
"0000612685"	"00016516"	"90"	"3214"	"0"	"3214"	"0"	"c.3214G>T"	"r.(?)"	"p.(Glu1072Ter)"	""
"0000612686"	"00016516"	"70"	"1909"	"22"	"1909"	"22"	"c.1909+22G>A"	"r.(=)"	"p.(=)"	""
"0000612687"	"00016516"	"90"	"1909"	"22"	"1909"	"22"	"c.1909+22G>A"	"r.(=)"	"p.(=)"	""
"0000612688"	"00016516"	"10"	"1771"	"-5"	"1771"	"-5"	"c.1771-5del"	"r.spl?"	"p.?"	""
"0000612689"	"00016516"	"30"	"1113"	"0"	"1113"	"0"	"c.1113C>T"	"r.(?)"	"p.(Pro371=)"	""
"0000648005"	"00016516"	"50"	"6097"	"0"	"6097"	"0"	"c.*1924G>A"	"r.(=)"	"p.(=)"	""
"0000648006"	"00016516"	"70"	"2554"	"0"	"2554"	"0"	"c.2554A>G"	"r.(?)"	"p.(Met852Val)"	""
"0000656569"	"00016516"	"90"	"3733"	"0"	"3733"	"0"	"c.3733C>T"	"r.(?)"	"p.(Arg1245Ter)"	""
"0000667323"	"00016516"	"30"	"346"	"0"	"346"	"0"	"c.346A>G"	"r.(?)"	"p.(Met116Val)"	""
"0000667324"	"00016516"	"70"	"1724"	"0"	"1724"	"0"	"c.1724A>T"	"r.(?)"	"p.(Lys575Met)"	""
"0000667325"	"00016516"	"70"	"1745"	"0"	"1745"	"0"	"c.1745G>A"	"r.(?)"	"p.(Arg582His)"	""
"0000675160"	"00016516"	"90"	"1909"	"22"	"1909"	"22"	"c.1909+22G>A"	"r.spl"	"p.?"	""
"0000675161"	"00016516"	"90"	"1896"	"0"	"1897"	"0"	"c.1896_1897del"	"r.(?)"	"p.(Ala633GlnfsTer2)"	""
"0000678923"	"00016516"	"90"	"3077"	"0"	"3137"	"0"	"c.3077_3137del"	"r.(?)"	"p.(Gln1026ProfsTer3)"	""
"0000678924"	"00016516"	"30"	"2334"	"0"	"2334"	"0"	"c.2334C>T"	"r.(?)"	"p.(Leu778=)"	""
"0000678926"	"00016516"	"30"	"1475"	"0"	"1475"	"0"	"c.1475T>C"	"r.(?)"	"p.(Val492Ala)"	""
"0000690795"	"00016516"	"30"	"3794"	"0"	"3794"	"0"	"c.3794C>A"	"r.(?)"	"p.(Thr1265Lys)"	""
"0000703975"	"00016516"	"90"	"2554"	"0"	"2554"	"0"	"c.2554A>G"	"r.(?)"	"p.(Met852Val)"	""
"0000703976"	"00016516"	"90"	"2668"	"0"	"2668"	"0"	"c.2668G>T"	"r.(?)"	"p.(Val890Phe)"	""
"0000711885"	"00016516"	"90"	"496"	"0"	"496"	"0"	"c.496G>A"	"r.(?)"	"p.(Val166Ile)"	"5"
"0000711889"	"00016516"	"90"	"1740"	"0"	"1740"	"0"	"c.1740dup"	"r.(?)"	"p.(Val581Serfs*28)"	"13"
"0000711890"	"00016516"	"90"	"496"	"0"	"496"	"0"	"c.496G>A"	"r.(?)"	"p.(Val166Ile)"	"5"
"0000711891"	"00016516"	"90"	"2015"	"0"	"2015"	"0"	"c.2015G>A"	"r.(?)"	"p.(Gly672Glu)"	"15"
"0000711892"	"00016516"	"90"	"2011"	"0"	"2011"	"0"	"c.2011T>C"	"r.(?)"	"p.(Trp671Arg)"	"15"
"0000711893"	"00016516"	"90"	"3014"	"0"	"3014"	"0"	"c.3014G>A"	"r.(?)"	"p.(Arg1005His)"	"23"
"0000711894"	"00016516"	"90"	"1160"	"0"	"1160"	"0"	"c.1160C>G"	"r.(?)"	"p.(Ala387Gly)"	"8"
"0000711896"	"00016516"	"90"	"2011"	"0"	"2011"	"0"	"c.2011T>C"	"r.(?)"	"p.(Trp671Arg)"	"15"
"0000711897"	"00016516"	"90"	"367"	"0"	"369"	"0"	"c.367_369del"	"r.(?)"	"p.(Lys123del)"	"4"
"0000711900"	"00016516"	"90"	"1433"	"0"	"1433"	"0"	"c.1433C>G"	"r.(?)"	"p.(Ala478Gly)"	"11"
"0000711903"	"00016516"	"90"	"2821"	"0"	"2821"	"0"	"c.2821A>C"	"r.(?)"	"p.(Ser941Arg)"	"21"
"0000711905"	"00016516"	"90"	"1186"	"0"	"1186"	"0"	"c.1186G>T"	"r.(?)"	"p.(Val396Leu)"	"9"
"0000711906"	"00016516"	"90"	"1930"	"0"	"1930"	"0"	"c.1930G>A"	"r.(?)"	"p.(Glu644Lys)"	"15"
"0000711909"	"00016516"	"90"	"1301"	"0"	"1301"	"0"	"c.1301dup"	"r.(?)"	"p.(Tyr434*)"	"10"
"0000711915"	"00016516"	"90"	"441"	"0"	"441"	"0"	"c.441dup"	"r.(?)"	"p.(Asp148*)"	"4"
"0000711916"	"00016516"	"90"	"1674"	"0"	"1674"	"0"	"c.1674C>G"	"r.(?)"	"p.(Phe558Leu)"	"13"
"0000711917"	"00016516"	"90"	"272"	"0"	"272"	"0"	"c.272C>T"	"r.(?)"	"p.(Pro91Leu)"	"3"
"0000711932"	"00016516"	"90"	"169"	"0"	"169"	"0"	"c.169G>A"	"r.(?)"	"p.(Asp57Asn)"	"2"
"0000711940"	"00016516"	"90"	"1795"	"0"	"1795"	"0"	"c.1795C>A"	"r.(?)"	"p.(Gln599Lys)"	"14"
"0000711945"	"00016516"	"90"	"1658"	"0"	"1658"	"0"	"c.1658C>T"	"r.(?)"	"p.(Thr553Ile)"	"13"
"0000711948"	"00016516"	"90"	"2005"	"0"	"2005"	"0"	"c.2005C>G"	"r.(?)"	"p.(Arg669Gly)"	"15"
"0000711949"	"00016516"	"90"	"2547"	"0"	"2547"	"0"	"c.2547C>G"	"r.(?)"	"p.(Phe849Leu)"	"19"
"0000711950"	"00016516"	"90"	"2039"	"0"	"2039"	"0"	"c.2039T>C"	"r.(?)"	"p.(Met680Thr)"	"15"
"0000711952"	"00016516"	"90"	"552"	"0"	"553"	"0"	"c.552_553delinsT"	"r.(?)"	"p.(Lys184Asnfs*35)"	"5"
"0000711953"	"00016516"	"90"	"2039"	"0"	"2039"	"0"	"c.2039T>C"	"r.(?)"	"p.(Met680Thr)"	"15"
"0000711958"	"00016516"	"90"	"2988"	"1"	"2988"	"1"	"c.2988+1G>T"	"r.spl"	"p.?"	"21i"
"0000711959"	"00016516"	"90"	"1930"	"0"	"1930"	"0"	"c.1930G>A"	"r.(?)"	"p.(Glu644Lys)"	"15"
"0000711962"	"00016516"	"90"	"2011"	"0"	"2011"	"0"	"c.2011T>C"	"r.(?)"	"p.(Trp671Arg)"	"15"
"0000711963"	"00016516"	"90"	"1797"	"0"	"1797"	"0"	"c.1797G>C"	"r.(?)"	"p.(Gln599His)"	"14"
"0000711965"	"00016516"	"90"	"1797"	"0"	"1797"	"0"	"c.1797G>C"	"r.(?)"	"p.(Gln599His)"	"14"
"0000711966"	"00016516"	"90"	"2542"	"0"	"2542"	"0"	"c.2542T>C"	"r.(?)"	"p.(Phe848Leu)"	"19"
"0000711970"	"00016516"	"90"	"2015"	"0"	"2015"	"0"	"c.2015G>A"	"r.(?)"	"p.(Gly672Glu)"	"15"
"0000711972"	"00016516"	"90"	"3014"	"0"	"3014"	"0"	"c.3014G>A"	"r.(?)"	"p.(Arg1005His)"	"23"
"0000711978"	"00016516"	"90"	"1804"	"0"	"1804"	"0"	"c.1804A>C"	"r.(?)"	"p.(Ser602Arg)"	"14"
"0000711979"	"00016516"	"90"	"3781"	"0"	"3781"	"0"	"c.3781G>A"	"r.(?)"	"p.(Glu1261Lys)"	"29"
"0000711983"	"00016516"	"90"	"3407"	"0"	"3407"	"0"	"c.3407G>A"	"r.(?)"	"p.(Arg1136Gln)"	"26"
"0000711984"	"00016516"	"90"	"2015"	"0"	"2015"	"0"	"c.2015G>A"	"r.(?)"	"p.(Gly672Glu)"	"15"
"0000711985"	"00016516"	"90"	"1935"	"0"	"1935"	"0"	"c.1935G>C"	"r.(?)"	"p.(Leu645Phe)"	"15"
"0000711992"	"00016516"	"90"	"2660"	"0"	"2660"	"0"	"c.2660A>T"	"r.(?)"	"p.(Asp887Val)"	"20"
"0000711993"	"00016516"	"90"	"2660"	"0"	"2660"	"0"	"c.2660A>T"	"r.(?)"	"p.(Asp887Val)"	"20"
"0000712001"	"00016516"	"90"	"3718"	"0"	"3718"	"0"	"c.3718G>A"	"r.(?)"	"p.(Gly1240Ser)"	"28"
"0000712002"	"00016516"	"90"	"2015"	"0"	"2015"	"0"	"c.2015G>A"	"r.(?)"	"p.(Gly672Glu)"	"15"
"0000712003"	"00016516"	"90"	"3013"	"0"	"3013"	"0"	"c.3013C>T"	"r.(?)"	"p.(Arg1005Cys)"	"23"
"0000712004"	"00016516"	"90"	"1930"	"0"	"1930"	"0"	"c.1930G>A"	"r.(?)"	"p.(Glu644Lys)"	"15"
"0000712006"	"00016516"	"90"	"2554"	"0"	"2554"	"0"	"c.2554A>G"	"r.(?)"	"p.(Met852Val)"	"19"
"0000712007"	"00016516"	"90"	"3781"	"0"	"3781"	"0"	"c.3781G>A"	"r.(?)"	"p.(Glu1261Lys)"	"29"
"0000712008"	"00016516"	"90"	"2554"	"0"	"2554"	"0"	"c.2554A>G"	"r.(?)"	"p.(Met852Val)"	"19"
"0000712009"	"00016516"	"90"	"3718"	"0"	"3718"	"0"	"c.3718G>A"	"r.(?)"	"p.(Gly1240Ser)"	"28"
"0000712012"	"00016516"	"90"	"2618"	"0"	"2618"	"0"	"c.2618G>A"	"r.(?)"	"p.(Arg873Gln)"	"20"
"0000712013"	"00016516"	"90"	"2810"	"0"	"2810"	"0"	"c.2810A>T"	"r.(?)"	"p.(Glu937Val)"	"21"
"0000712015"	"00016516"	"90"	"2045"	"0"	"2045"	"0"	"c.2045G>A"	"r.(?)"	"p.(Arg682Gln)"	"15"
"0000712025"	"00016516"	"90"	"2554"	"0"	"2554"	"0"	"c.2554A>G"	"r.(?)"	"p.(Met852Val)"	"19"
"0000712029"	"00016516"	"90"	"3014"	"0"	"3014"	"0"	"c.3014G>A"	"r.(?)"	"p.(Arg1005His)"	"23"
"0000712036"	"00016516"	"90"	"3991"	"0"	"3991"	"0"	"c.3991G>A"	"r.(?)"	"p.(Ala1331Thr)"	"30"
"0000712037"	"00016516"	"90"	"2098"	"0"	"2098"	"0"	"c.2098A>T"	"r.(?)"	"p.(Ile700Phe)"	"16"
"0000712045"	"00016516"	"90"	"3013"	"0"	"3013"	"0"	"c.3013C>T"	"r.(?)"	"p.(Arg1005Cys)"	"23"
"0000712046"	"00016516"	"90"	"2350"	"0"	"2350"	"0"	"c.2350G>A"	"r.(?)"	"p.(Gly784Ser)"	"17"
"0000722944"	"00016516"	"30"	"3834"	"0"	"3834"	"0"	"c.3834C>T"	"r.(?)"	"p.(His1278=)"	""
"0000722945"	"00016516"	"90"	"3014"	"0"	"3014"	"0"	"c.3014G>A"	"r.(?)"	"p.(Arg1005His)"	""
"0000722946"	"00016516"	"50"	"2521"	"0"	"2521"	"0"	"c.2521G>T"	"r.(?)"	"p.(Gly841Cys)"	""
"0000722947"	"00016516"	"50"	"2165"	"0"	"2165"	"0"	"c.2165A>G"	"r.(?)"	"p.(Lys722Arg)"	""
"0000722948"	"00016516"	"50"	"1787"	"0"	"1787"	"0"	"c.1787C>T"	"r.(?)"	"p.(Thr596Met)"	""
"0000722949"	"00016516"	"70"	"1771"	"-6"	"1771"	"-6"	"c.1771-6C>A"	"r.(=)"	"p.(=)"	""
"0000722950"	"00016516"	"50"	"1186"	"0"	"1186"	"0"	"c.1186G>T"	"r.(?)"	"p.(Val396Leu)"	""
"0000722951"	"00016516"	"30"	"491"	"-9"	"491"	"-9"	"c.491-9C>T"	"r.(=)"	"p.(=)"	""
"0000787469"	"00016516"	"50"	"2993"	"0"	"2993"	"0"	"c.2993G>A"	"r.(?)"	"p.(Arg998His)"	"23"
"0000804575"	"00016516"	"30"	"3734"	"0"	"3734"	"0"	"c.3734G>A"	"r.(?)"	"p.(Arg1245Gln)"	""
"0000804576"	"00016516"	"50"	"3519"	"0"	"3519"	"0"	"c.3519G>A"	"r.(?)"	"p.(Val1173=)"	""
"0000804577"	"00016516"	"50"	"2988"	"4"	"2988"	"4"	"c.2988+4A>G"	"r.spl?"	"p.?"	""
"0000804578"	"00016516"	"50"	"973"	"0"	"973"	"0"	"c.973C>T"	"r.(?)"	"p.(Leu325Phe)"	""
"0000804579"	"00016516"	"50"	"970"	"0"	"970"	"0"	"c.970G>A"	"r.(?)"	"p.(Glu324Lys)"	""
"0000852598"	"00016516"	"30"	"3870"	"0"	"3870"	"0"	"c.3870C>T"	"r.(?)"	"p.(Leu1290=)"	""
"0000852599"	"00016516"	"50"	"3436"	"0"	"3436"	"0"	"c.3436G>A"	"r.(?)"	"p.(Ala1146Thr)"	""
"0000852600"	"00016516"	"30"	"1745"	"0"	"1745"	"0"	"c.1745G>T"	"r.(?)"	"p.(Arg582Leu)"	""
"0000861998"	"00016516"	"30"	"4057"	"0"	"4057"	"0"	"c.4057A>G"	"r.(?)"	"p.(Met1353Val)"	""
"0000861999"	"00016516"	"50"	"1450"	"0"	"1450"	"0"	"c.1450C>T"	"r.(?)"	"p.(Arg484Trp)"	""
"0000862000"	"00016516"	"50"	"322"	"0"	"322"	"0"	"c.322A>G"	"r.(?)"	"p.(Ile108Val)"	""
"0000889260"	"00016516"	"50"	"-4482"	"0"	"-4482"	"0"	"c.-4482T>G"	"r.(?)"	"p.(=)"	""
"0000920111"	"00016516"	"90"	"1909"	"22"	"1909"	"22"	"c.1909+22G>A"	"r.(?)"	"p.(?)"	""
"0000925195"	"00016516"	"30"	"2394"	"0"	"2394"	"0"	"c.2394T>C"	"r.(?)"	"p.(Cys798=)"	""
"0000929704"	"00016516"	"50"	"2713"	"0"	"2713"	"0"	"c.2713G>A"	"r.(?)"	"p.(Asp905Asn)"	""
"0000936616"	"00016516"	"70"	"1674"	"0"	"1674"	"0"	"c.1674C>G"	"r.(?)"	"p.(Phe558Leu)"	""
"0000936617"	"00016516"	"70"	"2015"	"0"	"2015"	"0"	"c.2015G>A"	"r.(?)"	"p.(Gly672Glu)"	""
"0000936618"	"00016516"	"70"	"2015"	"0"	"2015"	"0"	"c.2015G>A"	"r.(?)"	"p.(Gly672Glu)"	""
"0000936619"	"00016516"	"70"	"2015"	"0"	"2015"	"0"	"c.2015G>A"	"r.(?)"	"p.(Gly672Glu)"	""
"0000936620"	"00016516"	"70"	"2015"	"0"	"2015"	"0"	"c.2015G>A"	"r.(?)"	"p.(Gly672Glu)"	""
"0000936621"	"00016516"	"70"	"1674"	"0"	"1674"	"0"	"c.1674C>G"	"r.(?)"	"p.(Phe558Leu)"	""
"0000936622"	"00016516"	"70"	"3583"	"0"	"3583"	"0"	"c.3583del"	"r.(?)"	"p.(Asp1195IlefsTer47)"	""
"0000936623"	"00016516"	"70"	"1771"	"-6"	"1771"	"-6"	"c.1771-6C>G"	"r.spl"	"p.(Pro591Metfs*9)"	""
"0000936624"	"00016516"	"70"	"3014"	"0"	"3014"	"0"	"c.3014G>A"	"r.(?)"	"p.(Arg1005His)"	""
"0000936625"	"00016516"	"70"	"1771"	"-6"	"1771"	"-6"	"c.1771-6C>G"	"r.spl"	"p.(Pro591Metfs*9)"	""
"0000936626"	"00016516"	"70"	"1771"	"-7"	"1771"	"-7"	"c.1771-7C>G"	"r.spl"	"p.[(Glu548_Tyr637del,Pro591Metfs*9)]"	""
"0000936627"	"00016516"	"70"	"1369"	"0"	"1369"	"0"	"c.1369G>A"	"r.(?)"	"p.(Gly457Arg)"	""
"0000936628"	"00016516"	"70"	"2554"	"0"	"2554"	"0"	"c.2554A>G"	"r.(?)"	"p.(Met852Val)"	""
"0000936629"	"00016516"	"70"	"1186"	"0"	"1186"	"0"	"c.1186G>T"	"r.(?)"	"p.(Val396Leu)"	""
"0000936630"	"00016516"	"70"	"1909"	"18"	"1909"	"18"	"c.1909+18G>A"	"r.spl"	"p.(Tyr637Cysfs*14)"	""
"0000936631"	"00016516"	"70"	"1051"	"0"	"1051"	"0"	"c.1051C>T"	"r.(?)"	"p.(Arg351Ter)"	""
"0000936646"	"00016516"	"70"	"2434"	"0"	"2434"	"0"	"c.2434G>A"	"r.(?)"	"p.(Gly812Ser)"	""
"0000936647"	"00016516"	"70"	"3742"	"0"	"3743"	"0"	"c.3742_3743insACC"	"r.(?)"	"p.(Ser1248delinsTyrPro)"	""
"0000936648"	"00016516"	"70"	"3718"	"0"	"3718"	"0"	"c.3718G>A"	"r.(?)"	"p.(Gly1240Ser)"	""
"0000936649"	"00016516"	"70"	"2015"	"0"	"2015"	"0"	"c.2015G>A"	"r.(?)"	"p.(Gly672Glu)"	""
"0000936650"	"00016516"	"70"	"1771"	"-7"	"1771"	"-7"	"c.1771-7C>G"	"r.spl"	"p.[(Glu548_Tyr637del,Pro591Metfs*9)]"	""
"0000936651"	"00016516"	"70"	"3205"	"0"	"3205"	"0"	"c.3205C>T"	"r.(?)"	"p.(Arg1069Trp)"	""
"0000936652"	"00016516"	"70"	"3781"	"0"	"3781"	"0"	"c.3781G>A"	"r.(?)"	"p.(Glu1261Lys)"	""
"0000936653"	"00016516"	"70"	"2819"	"0"	"2820"	"0"	"c.2819_2820del"	"r.(?)"	"p.(Leu940GlnfsTer17)"	""
"0000936654"	"00016516"	"70"	"3387"	"0"	"3387"	"0"	"c.3387C>A"	"r.spl?"	"p.(Leu1129=)"	""
"0000936655"	"00016516"	"70"	"3243"	"-2"	"3243"	"-2"	"c.3243-2A>G"	"r.spl"	"p.?"	""
"0000936656"	"00016516"	"70"	"2617"	"-1"	"2617"	"-1"	"c.2617-1G>A"	"r.spl"	"p.(Arg873Alafs*878)"	""
"0000936657"	"00016516"	"70"	"2015"	"0"	"2015"	"0"	"c.2015G>A"	"r.(?)"	"p.(Gly672Glu)"	""
"0000936658"	"00016516"	"70"	"1771"	"-7"	"1771"	"-7"	"c.1771-7C>G"	"r.spl"	"p.[(Glu548_Tyr637del,Pro591Metfs*9)]"	""
"0000936669"	"00016516"	"70"	"646"	"-1"	"1185"	"1"	"c.(645+1_646-1)_(1185+1_1186-1)del"	"r.?"	"p.?"	"5i_8i"
"0000936676"	"00016516"	"90"	"1114"	"0"	"1114"	"0"	"c.1114G>A"	"r.(?)"	"p.(Asp372Asn)"	""
"0000936677"	"00016516"	"90"	"2554"	"0"	"2554"	"0"	"c.2554A>G"	"r.(?)"	"p.(Met852Val)"	""
"0000936679"	"00016516"	"90"	"1186"	"0"	"1186"	"0"	"c.1186G>T"	"r.(?)"	"p.(Val396Leu)"	""
"0000936681"	"00016516"	"90"	"1930"	"0"	"1930"	"0"	"c.1930G>A"	"r.(?)"	"p.(Glu644Lys)"	""
"0000936682"	"00016516"	"90"	"1909"	"18"	"1909"	"18"	"c.1909+18G>A"	"r.spl"	"p.(Tyr637Cysfs*14)"	""
"0000936684"	"00016516"	"90"	"1369"	"0"	"1369"	"0"	"c.1369G>A"	"r.(?)"	"p.(Gly457Arg)"	""
"0000936687"	"00016516"	"90"	"3781"	"0"	"3781"	"0"	"c.3781G>A"	"r.(?)"	"p.(Glu1261Lys)"	""
"0000936688"	"00016516"	"90"	"2015"	"0"	"2015"	"0"	"c.2015G>A"	"r.(?)"	"p.(Gly672Glu)"	""
"0000936689"	"00016516"	"90"	"1674"	"0"	"1674"	"0"	"c.1674C>G"	"r.(?)"	"p.(Phe558Leu)"	""
"0000936690"	"00016516"	"90"	"2015"	"0"	"2015"	"0"	"c.2015G>A"	"r.(?)"	"p.(Gly672Glu)"	""
"0000936691"	"00016516"	"90"	"2015"	"0"	"2015"	"0"	"c.2015G>A"	"r.(?)"	"p.(Gly672Glu)"	""
"0000936692"	"00016516"	"90"	"1674"	"0"	"1674"	"0"	"c.1674C>G"	"r.(?)"	"p.(Phe558Leu)"	""
"0000936696"	"00016516"	"90"	"2324"	"0"	"2324"	"0"	"c.2324A>T"	"r.(?)"	"p.(Asn775Ile)"	""
"0000936697"	"00016516"	"90"	"2617"	"-1"	"2617"	"-1"	"c.2617-1G>A"	"r.(?)"	"p.(Arg873Alafs*6)"	""
"0000936699"	"00016516"	"90"	"2015"	"0"	"2015"	"0"	"c.2015G>A"	"r.(?)"	"p.(Gly672Glu)"	""
"0000936701"	"00016516"	"90"	"1935"	"0"	"1935"	"0"	"c.1935G>C"	"r.(?)"	"p.(Leu645Phe)"	""
"0000936703"	"00016516"	"90"	"3243"	"-2"	"3243"	"-2"	"c.3243-2A>G"	"r.spl"	"p.?"	""
"0000936706"	"00016516"	"90"	"3014"	"0"	"3014"	"0"	"c.3014G>A"	"r.(?)"	"p.(Arg1005His)"	""
"0000936707"	"00016516"	"90"	"3718"	"0"	"3718"	"0"	"c.3718G>A"	"r.(?)"	"p.(Gly1240Ser)"	""
"0000936708"	"00016516"	"90"	"2015"	"0"	"2015"	"0"	"c.2015G>A"	"r.(?)"	"p.(Gly672Glu)"	""
"0000936709"	"00016516"	"90"	"3739"	"0"	"3741"	"0"	"c.3739_3741dup"	"r.(?)"	"p.(Thr1247dup)"	""
"0000936710"	"00016516"	"90"	"2119"	"0"	"2119"	"0"	"c.2119C>T"	"r.(?)"	"p.(Gln707Ter)"	""
"0000936711"	"00016516"	"90"	"1681"	"0"	"1681"	"0"	"c.1681C>T"	"r.1681c>u"	"p.Arg561Ter"	""
"0000936712"	"00016516"	"90"	"1051"	"0"	"1051"	"0"	"c.1051C>T"	"r.(?)"	"p.(Arg351Ter)"	""
"0000936713"	"00016516"	"90"	"1051"	"0"	"1051"	"0"	"c.1051C>T"	"r.(?)"	"p.(Arg351Ter)"	""
"0000936714"	"00016516"	"90"	"601"	"0"	"601"	"0"	"c.601del"	"r.(?)"	"p.(Ile201LeufsTer18)"	""
"0000936715"	"00016516"	"90"	"3583"	"0"	"3583"	"0"	"c.3583del"	"r.(?)"	"p.(Asp1195IlefsTer47)"	""
"0000936716"	"00016516"	"90"	"1771"	"-7"	"1771"	"-7"	"c.1771-7C>G"	"r.(1771_1909del,1643_1909del)"	"p.(Pro591Metfs*9,Gly548_Tyr637del)"	""
"0000936717"	"00016516"	"90"	"1771"	"-7"	"1771"	"-7"	"c.1771-7C>G"	"r.1771_1909del,1643_1909del"	"p.Pro591Metfs*9,Gly548_Tyr637del"	""
"0000936718"	"00016516"	"90"	"1771"	"-7"	"1771"	"-7"	"c.1771-7C>G"	"r.(1771_1909del,1643_1909del)"	"p.(Pro591Metfs*9,Gly548_Tyr637del)"	""
"0000936719"	"00016516"	"90"	"1771"	"-7"	"1771"	"-7"	"c.1771-7C>G"	"r.(1771_1909del,1643_1909del)"	"p.(Pro591Metfs*9,Gly548_Tyr637del)"	""
"0000936720"	"00016516"	"90"	"1771"	"-7"	"1771"	"-7"	"c.1771-7C>G"	"r.(1771_1909del,1643_1909del)"	"p.(Pro591Metfs*9,Gly548_Tyr637del)"	""
"0000936721"	"00016516"	"90"	"1771"	"-7"	"1771"	"-7"	"c.1771-7C>G"	"r.(1771_1909del,1643_1909del)"	"p.(Pro591Metfs*9,Gly548_Tyr637del)"	""
"0000936722"	"00016516"	"90"	"1048"	"1"	"1048"	"1"	"c.1048+1G>A"	"r.spl"	"p.?"	"7i"
"0000936723"	"00016516"	"90"	"2710"	"0"	"2710"	"0"	"c.2710G>A"	"r.(?)"	"p.(Gly904Arg)"	"20"
"0000936724"	"00016516"	"90"	"1771"	"-6"	"1771"	"-6"	"c.1771-6C>G"	"r.spl"	"p.?"	"13i"
"0000936726"	"00016516"	"90"	"2381"	"0"	"2381"	"0"	"c.2381A>C"	"r.(?)"	"p.(Gln794Pro)"	"18"
"0000936727"	"00016516"	"90"	"2381"	"0"	"2381"	"0"	"c.2381A>C"	"r.(?)"	"p.(Gln794Pro)"	"18"
"0000936729"	"00016516"	"90"	"1909"	"22"	"1909"	"22"	"c.1909+22G>A"	"r.spl"	"p.?"	"14i"
"0000936730"	"00016516"	"90"	"1289"	"3"	"1289"	"3"	"c.1289+3A>C"	"r.spl"	"p.?"	"9i"
"0000936731"	"00016516"	"90"	"3205"	"0"	"3205"	"0"	"c.3205C>T"	"r.(?)"	"p.(Arg1069Trp)"	"24"
"0000936733"	"00016516"	"70"	"-35"	"0"	"-35"	"0"	"c.-35C>G"	"r.?"	"p.?"	"1"
"0000936734"	"00016516"	"70"	"-35"	"0"	"-35"	"0"	"c.-35C>G"	"r.?"	"p.?"	"1"
"0000936736"	"00016516"	"90"	"2549"	"0"	"2549"	"0"	"c.2549A>G"	"r.(?)"	"p.(His850Arg)"	"19"
"0000936746"	"00016516"	"90"	"1674"	"0"	"1674"	"0"	"c.1674C>G"	"r.(?)"	"p.(Phe558Leu)"	"13"
"0000936747"	"00016516"	"90"	"2015"	"0"	"2015"	"0"	"c.2015G>A"	"r.(?)"	"p.(Gly672Glu)"	"15"
"0000936748"	"00016516"	"90"	"2015"	"0"	"2015"	"0"	"c.2015G>A"	"r.(?)"	"p.(Gly672Glu)"	"15"
"0000936749"	"00016516"	"90"	"2015"	"0"	"2015"	"0"	"c.2015G>A"	"r.(?)"	"p.(Gly672Glu)"	"15"
"0000936750"	"00016516"	"90"	"2015"	"0"	"2015"	"0"	"c.2015G>A"	"r.(?)"	"p.(Gly672Glu)"	"15"
"0000936751"	"00016516"	"90"	"2015"	"0"	"2015"	"0"	"c.2015G>A"	"r.(?)"	"p.(Gly672Glu)"	"15"
"0000936752"	"00016516"	"90"	"2554"	"0"	"2554"	"0"	"c.2554A>G"	"r.(?)"	"p.(Met852Val)"	"19"
"0000936753"	"00016516"	"90"	"1114"	"0"	"1114"	"0"	"c.1114G>A"	"r.(?)"	"p.(Asp372Asn)"	"8"
"0000936754"	"00016516"	"90"	"2830"	"0"	"2830"	"0"	"c.2830G>T"	"r.(?)"	"p.(Glu944Ter)"	"21"
"0000936755"	"00016516"	"90"	"2554"	"0"	"2554"	"0"	"c.2554A>G"	"r.(?)"	"p.(Met852Val)"	"19"
"0000936756"	"00016516"	"90"	"3014"	"0"	"3014"	"0"	"c.3014G>A"	"r.(?)"	"p.(Arg1005His)"	"23"
"0000936760"	"00016516"	"90"	"496"	"0"	"496"	"0"	"c.496G>A"	"r.(?)"	"p.(Val166Ile)"	"5"
"0000936761"	"00016516"	"90"	"496"	"0"	"496"	"0"	"c.496G>A"	"r.(?)"	"p.(Val166Ile)"	"5"
"0000936762"	"00016516"	"90"	"2011"	"0"	"2011"	"0"	"c.2011T>C"	"r.(?)"	"p.(Trp671Arg)"	"15"
"0000936763"	"00016516"	"90"	"2011"	"0"	"2011"	"0"	"c.2011T>C"	"r.(?)"	"p.(Trp671Arg)"	"15"
"0000936764"	"00016516"	"90"	"1740"	"0"	"1740"	"0"	"c.1740dup"	"r.(?)"	"p.(Val581SerfsTer28)"	"13"
"0000936765"	"00016516"	"90"	"1160"	"0"	"1160"	"0"	"c.1160C>G"	"r.(?)"	"p.(Ala387Gly)"	"8"
"0000936766"	"00016516"	"90"	"1301"	"0"	"1301"	"0"	"c.1301dup"	"r.(?)"	"p.(Tyr434Ter)"	"10"
"0000936767"	"00016516"	"90"	"272"	"0"	"272"	"0"	"c.272C>T"	"r.(?)"	"p.(Pro91Leu)"	"3"
"0000936775"	"00016516"	"90"	"2821"	"0"	"2821"	"0"	"c.2821A>C"	"r.(?)"	"p.(Ser941Arg)"	"21"
"0000936776"	"00016516"	"90"	"1186"	"0"	"1186"	"0"	"c.1186G>T"	"r.(?)"	"p.(Val396Leu)"	"9"
"0000936777"	"00016516"	"90"	"367"	"0"	"369"	"0"	"c.367_369del"	"r.(?)"	"p.(Lys123del)"	"4"
"0000936778"	"00016516"	"90"	"1930"	"0"	"1930"	"0"	"c.1930G>A"	"r.(?)"	"p.(Glu644Lys)"	"15"
"0000936781"	"00016516"	"90"	"552"	"0"	"553"	"0"	"c.552_553delinsT"	"r.(?)"	"p.(Lys184AsnfsTer35)"	"5"
"0000936786"	"00016516"	"90"	"3014"	"0"	"3014"	"0"	"c.3014G>A"	"r.(?)"	"p.(Arg1005His)"	"23"
"0000936787"	"00016516"	"90"	"2015"	"0"	"2015"	"0"	"c.2015G>A"	"r.(?)"	"p.(Gly672Glu)"	"15"
"0000936788"	"00016516"	"90"	"1674"	"0"	"1674"	"0"	"c.1674C>G"	"r.(?)"	"p.(Phe558Leu)"	"13"
"0000936791"	"00016516"	"90"	"169"	"0"	"169"	"0"	"c.169G>A"	"r.(?)"	"p.(Asp57Asn)"	"2"
"0000936793"	"00016516"	"90"	"1433"	"0"	"1433"	"0"	"c.1433C>G"	"r.(?)"	"p.(Ala478Gly)"	"11"
"0000936811"	"00016516"	"90"	"441"	"0"	"441"	"0"	"c.441dup"	"r.(?)"	"p.(Asp148Ter)"	"4"
"0000936812"	"00016516"	"90"	"1795"	"0"	"1795"	"0"	"c.1795C>A"	"r.(?)"	"p.(Gln599Lys)"	"14"
"0000936820"	"00016516"	"90"	"2005"	"0"	"2005"	"0"	"c.2005C>G"	"r.(?)"	"p.(Arg669Gly)"	"15"
"0000936822"	"00016516"	"90"	"2547"	"0"	"2547"	"0"	"c.2547C>G"	"r.(?)"	"p.(Phe849Leu)"	"19"
"0000936824"	"00016516"	"90"	"2039"	"0"	"2039"	"0"	"c.2039T>C"	"r.(?)"	"p.(Met680Thr)"	"15"
"0000936825"	"00016516"	"90"	"2039"	"0"	"2039"	"0"	"c.2039T>C"	"r.(?)"	"p.(Met680Thr)"	"15"
"0000936830"	"00016516"	"90"	"2988"	"1"	"2988"	"1"	"c.2988+1G>T"	"r.spl"	"p.?"	"21i"
"0000936831"	"00016516"	"90"	"1930"	"0"	"1930"	"0"	"c.1930G>A"	"r.(?)"	"p.(Glu644Lys)"	"15"
"0000936834"	"00016516"	"90"	"2011"	"0"	"2011"	"0"	"c.2011T>C"	"r.(?)"	"p.(Trp671Arg)"	"15"
"0000936835"	"00016516"	"90"	"1658"	"0"	"1658"	"0"	"c.1658C>T"	"r.(?)"	"p.(Thr553Ile)"	"13"
"0000936836"	"00016516"	"90"	"1797"	"0"	"1797"	"0"	"c.1797G>C"	"r.(?)"	"p.(Gln599His)"	"14"
"0000936837"	"00016516"	"90"	"1797"	"0"	"1797"	"0"	"c.1797G>C"	"r.(?)"	"p.(Gln599His)"	"14"
"0000936842"	"00016516"	"90"	"2542"	"0"	"2542"	"0"	"c.2542T>C"	"r.(?)"	"p.(Phe848Leu)"	"19"
"0000936845"	"00016516"	"90"	"2015"	"0"	"2015"	"0"	"c.2015G>A"	"r.(?)"	"p.(Gly672Glu)"	"15"
"0000936851"	"00016516"	"90"	"3739"	"0"	"3741"	"0"	"c.3739_3741dup"	"r.(?)"	"p.(Thr1247dup)"	"28"
"0000936852"	"00016516"	"90"	"2617"	"-1"	"2617"	"-1"	"c.2617-1G>A"	"r.spl"	"p.?"	"19i"
"0000936853"	"00016516"	"90"	"2324"	"0"	"2324"	"0"	"c.2324A>T"	"r.(?)"	"p.(Asn775Ile)"	"17"
"0000936854"	"00016516"	"90"	"3013"	"0"	"3013"	"0"	"c.3013C>T"	"r.(?)"	"p.(Arg1005Cys)"	"23"
"0000936855"	"00016516"	"90"	"2617"	"-1"	"2617"	"-1"	"c.2617-1G>A"	"r.spl"	"p.?"	"19i"
"0000936856"	"00016516"	"90"	"3991"	"0"	"3991"	"0"	"c.3991G>A"	"r.(?)"	"p.(Ala1331Thr)"	"30"
"0000936860"	"00016516"	"90"	"1804"	"0"	"1804"	"0"	"c.1804A>C"	"r.(?)"	"p.(Ser602Arg)"	"14"
"0000936861"	"00016516"	"90"	"3781"	"0"	"3781"	"0"	"c.3781G>A"	"r.(?)"	"p.(Glu1261Lys)"	"29"
"0000936862"	"00016516"	"90"	"2554"	"0"	"2554"	"0"	"c.2554A>G"	"r.(?)"	"p.(Met852Val)"	"19"
"0000936863"	"00016516"	"90"	"3013"	"0"	"3013"	"0"	"c.3013C>T"	"r.(?)"	"p.(Arg1005Cys)"	"23"
"0000936871"	"00016516"	"90"	"3407"	"0"	"3407"	"0"	"c.3407G>A"	"r.(?)"	"p.(Arg1136Gln)"	"26"
"0000936872"	"00016516"	"90"	"2015"	"0"	"2015"	"0"	"c.2015G>A"	"r.(?)"	"p.(Gly672Glu)"	"15"
"0000936873"	"00016516"	"90"	"1930"	"0"	"1930"	"0"	"c.1930G>A"	"r.(?)"	"p.(Glu644Lys)"	"15"
"0000936874"	"00016516"	"90"	"1935"	"0"	"1935"	"0"	"c.1935G>C"	"r.(?)"	"p.(Leu645Phe)"	"15"
"0000936877"	"00016516"	"90"	"3014"	"0"	"3014"	"0"	"c.3014G>A"	"r.(?)"	"p.(Arg1005His)"	"23"
"0000936881"	"00016516"	"90"	"3781"	"0"	"3781"	"0"	"c.3781G>A"	"r.(?)"	"p.(Glu1261Lys)"	"29"
"0000936882"	"00016516"	"90"	"3718"	"0"	"3718"	"0"	"c.3718G>A"	"r.(?)"	"p.(Gly1240Ser)"	"28"
"0000936883"	"00016516"	"90"	"2015"	"0"	"2015"	"0"	"c.2015G>A"	"r.(?)"	"p.(Gly672Glu)"	"15"
"0000936884"	"00016516"	"90"	"2098"	"0"	"2098"	"0"	"c.2098A>T"	"r.(?)"	"p.(Ile700Phe)"	"16"
"0000936886"	"00016516"	"90"	"2045"	"0"	"2045"	"0"	"c.2045G>A"	"r.(?)"	"p.(Arg682Gln)"	"15"
"0000936901"	"00016516"	"90"	"2554"	"0"	"2554"	"0"	"c.2554A>G"	"r.(?)"	"p.(Met852Val)"	"19"
"0000936902"	"00016516"	"90"	"3718"	"0"	"3718"	"0"	"c.3718G>A"	"r.(?)"	"p.(Gly1240Ser)"	"28"
"0000936910"	"00016516"	"90"	"2618"	"0"	"2618"	"0"	"c.2618G>A"	"r.(?)"	"p.(Arg873Gln)"	"20"
"0000936912"	"00016516"	"90"	"2660"	"0"	"2660"	"0"	"c.2660A>T"	"r.(?)"	"p.(Asp887Val)"	"20"
"0000936913"	"00016516"	"90"	"2660"	"0"	"2660"	"0"	"c.2660A>T"	"r.(?)"	"p.(Asp887Val)"	"20"
"0000936918"	"00016516"	"90"	"3013"	"0"	"3013"	"0"	"c.3013C>T"	"r.(?)"	"p.(Arg1005Cys)"	"23"
"0000936919"	"00016516"	"90"	"2350"	"0"	"2350"	"0"	"c.2350G>A"	"r.(?)"	"p.(Gly784Ser)"	"17"
"0000936920"	"00016516"	"90"	"2810"	"0"	"2810"	"0"	"c.2810A>T"	"r.(?)"	"p.(Glu937Val)"	"21"
"0000936921"	"00016516"	"90"	"2554"	"0"	"2554"	"0"	"c.2554A>G"	"r.(?)"	"p.(Met852Val)"	"19"
"0000936931"	"00016516"	"90"	"1771"	"-7"	"1771"	"-7"	"c.1771-7C>G"	"r.[(1643_1909del,1771_1909del)]"	"p.[(Glu548_Tyr637del,Pro591Metfs*9)]"	""
"0000936932"	"00016516"	"90"	"1771"	"-7"	"1771"	"-7"	"c.1771-7C>G"	"r.[(1643_1909del,1771_1909del)]"	"p.[(Glu548_Tyr637del,Pro591Metfs*9)]"	""
"0000936933"	"00016516"	"90"	"1771"	"-7"	"1771"	"-7"	"c.1771-7C>G"	"r.[(1643_1909del,1771_1909del)]"	"p.[(Glu548_Tyr637del,Pro591Metfs*9)]"	""
"0000936934"	"00016516"	"90"	"1771"	"-7"	"1771"	"-7"	"c.1771-7C>G"	"r.[(1643_1909del,1771_1909del)]"	"p.[(Glu548_Tyr637del,Pro591Metfs*9)]"	""
"0000936935"	"00016516"	"90"	"1771"	"-7"	"1771"	"-7"	"c.1771-7C>G"	"r.[(1643_1909del,1771_1909del)]"	"p.[(Glu548_Tyr637del,Pro591Metfs*9)]"	""
"0000936936"	"00016516"	"90"	"1771"	"-7"	"1771"	"-7"	"c.1771-7C>G"	"r.[(1643_1909del,1771_1909del)]"	"p.[(Glu548_Tyr637del,Pro591Metfs*9)]"	""
"0000936937"	"00016516"	"90"	"1771"	"-6"	"1771"	"-6"	"c.1771-6C>G"	"r.(1771_1909del)"	"p.(Pro591Metfs*9)"	""
"0000936938"	"00016516"	"90"	"1771"	"-6"	"1771"	"-6"	"c.1771-6C>G"	"r.(1771_1909del)"	"p.(Pro591Metfs*9)"	""
"0000936939"	"00016516"	"90"	"1771"	"-6"	"1771"	"-6"	"c.1771-6C>G"	"r.(1771_1909del)"	"p.(Pro591Metfs*9)"	""
"0000936940"	"00016516"	"90"	"1048"	"5"	"1048"	"5"	"c.1048+5G>T"	"r.spl"	"p.(Glu350Glufs*27)"	""
"0000936941"	"00016516"	"90"	"4025"	"-1"	"4025"	"-1"	"c.4025-1G>A"	"r.spl"	"p.?"	""
"0000936942"	"00016516"	"90"	"2713"	"0"	"2713"	"0"	"c.2713G>A"	"r.(?)"	"p.(Asp905Asn)"	""
"0000936943"	"00016516"	"70"	"3387"	"0"	"3387"	"0"	"c.3387C>A"	"r.spl"	"p.?"	""
"0000936944"	"00016516"	"90"	"2809"	"0"	"2809"	"0"	"c.2809G>A"	"r.(?)"	"p.(Glu937Lys)"	""
"0000936945"	"00016516"	"90"	"1771"	"-6"	"1771"	"-6"	"c.1771-6C>G"	"r.(1771_1909del)"	"p.(Pro591Metfs*9)"	""
"0000936946"	"00016516"	"90"	"2045"	"0"	"2045"	"0"	"c.2045G>A"	"r.(?)"	"p.(Arg682Gln)"	""
"0000949451"	"00016516"	"30"	"1745"	"0"	"1745"	"0"	"c.1745G>T"	"r.(?)"	"p.(Arg582Leu)"	""
"0000979167"	"00016516"	"50"	"3436"	"0"	"3436"	"0"	"c.3436G>A"	"r.(?)"	"p.(Ala1146Thr)"	""
"0000979168"	"00016516"	"50"	"3028"	"0"	"3028"	"0"	"c.3028C>A"	"r.(?)"	"p.(Gln1010Lys)"	""
"0000979169"	"00016516"	"30"	"2472"	"0"	"2472"	"0"	"c.2472C>T"	"r.(?)"	"p.(His824=)"	""
"0000979170"	"00016516"	"90"	"1909"	"22"	"1909"	"22"	"c.1909+22G>A"	"r.(=)"	"p.(=)"	""
"0000979171"	"00016516"	"90"	"1909"	"18"	"1909"	"18"	"c.1909+18G>A"	"r.(=)"	"p.(=)"	""
"0000979172"	"00016516"	"30"	"1771"	"-5"	"1771"	"-5"	"c.1771-5dup"	"r.spl?"	"p.?"	""
"0000979173"	"00016516"	"50"	"1163"	"0"	"1163"	"0"	"c.1163A>G"	"r.(?)"	"p.(Lys388Arg)"	""
"0000979174"	"00016516"	"30"	"741"	"0"	"741"	"0"	"c.741G>A"	"r.(?)"	"p.(=)"	""
"0000979175"	"00016516"	"30"	"318"	"7"	"318"	"7"	"c.318+7A>C"	"r.(=)"	"p.(=)"	""
"0000998543"	"00016516"	"30"	"2938"	"0"	"2938"	"0"	"c.2938A>G"	"r.(?)"	"p.(Ile980Val)"	""
"0000998544"	"00016516"	"30"	"1724"	"0"	"1724"	"0"	"c.1724A>T"	"r.(?)"	"p.(Lys575Met)"	""
"0001011897"	"00016516"	"90"	"2471"	"0"	"2471"	"0"	"c.2471A>C"	"r.(?)"	"p.(His824Pro)"	""
"0001014661"	"00016516"	"50"	"295"	"0"	"295"	"0"	"c.295A>G"	"r.(?)"	"p.(Arg99Gly)"	""
"0001029726"	"00016516"	"70"	"3429"	"51"	"3429"	"51"	"c.3429+51A>G"	"r.3429_3430ins3429+1_3429+50"	"p.Asn1145Serfs*17"	"26i"
"0001029730"	"00016516"	"70"	"44"	"5"	"44"	"5"	"c.44+5G>C"	"r.44_45ins[GTAAC;44+6_44+10]"	"p.Ile15Metfs*2"	"1i"
"0001038029"	"00016516"	"50"	"3838"	"0"	"3838"	"0"	"c.3838A>G"	"r.(?)"	"p.(Met1280Val)"	""
"0001038030"	"00016516"	"30"	"3760"	"-10"	"3760"	"-10"	"c.3760-10C>G"	"r.(=)"	"p.(=)"	""
"0001038031"	"00016516"	"50"	"3503"	"0"	"3503"	"0"	"c.3503A>C"	"r.(?)"	"p.(His1168Pro)"	""
"0001038032"	"00016516"	"50"	"3134"	"0"	"3134"	"0"	"c.3134G>C"	"r.(?)"	"p.(Gly1045Ala)"	""
"0001038033"	"00016516"	"50"	"3001"	"0"	"3001"	"0"	"c.3001T>C"	"r.(?)"	"p.(Tyr1001His)"	""
"0001038034"	"00016516"	"10"	"2997"	"0"	"2997"	"0"	"c.2997G>T"	"r.(?)"	"p.(=)"	""
"0001038035"	"00016516"	"50"	"2779"	"0"	"2779"	"0"	"c.2779A>G"	"r.(?)"	"p.(Asn927Asp)"	""
"0001038037"	"00016516"	"50"	"2395"	"0"	"2395"	"0"	"c.2395G>C"	"r.(?)"	"p.(Val799Leu)"	""
"0001038038"	"00016516"	"50"	"1290"	"-5"	"1290"	"-5"	"c.1290-5T>C"	"r.spl?"	"p.?"	""
"0001038039"	"00016516"	"30"	"45"	"-3"	"45"	"-3"	"c.45-3C>T"	"r.spl?"	"p.?"	""
"0001048038"	"00016516"	"70"	"1078"	"0"	"1078"	"0"	"c.1078A>G"	"r.(?)"	"p.(Arg360Gly)"	""
"0001048039"	"00016516"	"70"	"1078"	"0"	"1078"	"0"	"c.1078A>G"	"r.(?)"	"p.(Arg360Gly)"	""
"0001048040"	"00016516"	"70"	"1078"	"0"	"1078"	"0"	"c.1078A>G"	"r.(?)"	"p.(Arg360Gly)"	""
"0001048041"	"00016516"	"90"	"2270"	"0"	"2270"	"0"	"c.2270C>T"	"r.(?)"	"p.(Ser757Phe)"	""
"0001048042"	"00016516"	"70"	"2278"	"0"	"2278"	"0"	"c.2278C>T"	"r.(?)"	"p.(Arg760Cys)"	""
"0001048043"	"00016516"	"70"	"2278"	"0"	"2278"	"0"	"c.2278C>T"	"r.(?)"	"p.(Arg760Cys)"	""
"0001048044"	"00016516"	"90"	"2357"	"0"	"2357"	"0"	"c.2357A>G"	"r.(?)"	"p.(Lys786Arg)"	""
"0001048045"	"00016516"	"90"	"2548"	"0"	"2548"	"0"	"c.2548C>A"	"r.(?)"	"p.(His850Asn)"	""
"0001048046"	"00016516"	"90"	"2548"	"0"	"2548"	"0"	"c.2548C>A"	"r.(?)"	"p.(His850Asn)"	""
"0001048047"	"00016516"	"90"	"2558"	"0"	"2558"	"0"	"c.2558C>T"	"r.(?)"	"p.(Ala853Val)"	""
"0001048048"	"00016516"	"90"	"2560"	"0"	"2560"	"0"	"c.2560G>A"	"r.(?)"	"p.(Gly854Ser)"	""
"0001053610"	"00016516"	"10"	"3987"	"0"	"3987"	"0"	"c.3987T>C"	"r.(?)"	"p.(Phe1329=)"	""
"0001053611"	"00016516"	"50"	"3698"	"0"	"3698"	"0"	"c.3698G>A"	"r.(?)"	"p.(Arg1233Gln)"	""
"0001053612"	"00016516"	"50"	"3673"	"0"	"3673"	"0"	"c.3673C>T"	"r.(?)"	"p.(Leu1225Phe)"	""
"0001053613"	"00016516"	"10"	"3660"	"0"	"3660"	"0"	"c.3660G>A"	"r.(?)"	"p.(=)"	""
"0001053614"	"00016516"	"50"	"3476"	"0"	"3476"	"0"	"c.3476G>A"	"r.(?)"	"p.(Arg1159His)"	""
"0001053615"	"00016516"	"30"	"2247"	"8"	"2247"	"8"	"c.2247+8C>T"	"r.(=)"	"p.(=)"	""
"0001053616"	"00016516"	"90"	"1771"	"-6"	"1771"	"-6"	"c.1771-6C>G"	"r.(=)"	"p.(=)"	""
"0001053617"	"00016516"	"90"	"1771"	"-7"	"1771"	"-7"	"c.1771-7C>G"	"r.(=)"	"p.(=)"	""
"0001053618"	"00016516"	"50"	"299"	"0"	"299"	"0"	"c.299C>T"	"r.(?)"	"p.(Ala100Val)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 299
"{{screeningid}}"	"{{variantid}}"
"0000108397"	"0000174326"
"0000108397"	"0000174327"
"0000145476"	"0000237848"
"0000152243"	"0000245377"
"0000208576"	"0000438460"
"0000208576"	"0000438461"
"0000208577"	"0000438463"
"0000208577"	"0000438465"
"0000208577"	"0000438466"
"0000208578"	"0000438468"
"0000208578"	"0000438469"
"0000208578"	"0000438471"
"0000208579"	"0000438472"
"0000208579"	"0000438473"
"0000208579"	"0000438474"
"0000208580"	"0000438475"
"0000208580"	"0000438476"
"0000208580"	"0000438477"
"0000208581"	"0000438478"
"0000208582"	"0000438481"
"0000208583"	"0000438483"
"0000208583"	"0000438484"
"0000208584"	"0000438485"
"0000208584"	"0000438486"
"0000208585"	"0000438487"
"0000208586"	"0000438488"
"0000208587"	"0000438489"
"0000208587"	"0000438490"
"0000208591"	"0000438479"
"0000208591"	"0000438480"
"0000208592"	"0000438496"
"0000208592"	"0000438515"
"0000208593"	"0000438497"
"0000208594"	"0000438498"
"0000208595"	"0000438499"
"0000208596"	"0000438500"
"0000208597"	"0000438501"
"0000208598"	"0000438502"
"0000208598"	"0000438516"
"0000208599"	"0000438503"
"0000208599"	"0000438517"
"0000208600"	"0000438504"
"0000208600"	"0000438518"
"0000208601"	"0000438505"
"0000208601"	"0000438519"
"0000208602"	"0000438506"
"0000208602"	"0000438520"
"0000208603"	"0000438507"
"0000208604"	"0000438508"
"0000208605"	"0000438509"
"0000208606"	"0000438510"
"0000208607"	"0000438511"
"0000208608"	"0000438512"
"0000208609"	"0000438513"
"0000208609"	"0000438521"
"0000208610"	"0000438514"
"0000291316"	"0000648005"
"0000291317"	"0000648006"
"0000303936"	"0000667323"
"0000303936"	"0000667324"
"0000303936"	"0000667325"
"0000308264"	"0000675160"
"0000308264"	"0000675161"
"0000321174"	"0000703975"
"0000321174"	"0000703976"
"0000328038"	"0000711885"
"0000328042"	"0000711889"
"0000328042"	"0000711978"
"0000328043"	"0000711890"
"0000328044"	"0000711891"
"0000328044"	"0000712001"
"0000328045"	"0000711892"
"0000328046"	"0000711893"
"0000328046"	"0000712007"
"0000328047"	"0000711894"
"0000328047"	"0000711979"
"0000328049"	"0000711896"
"0000328050"	"0000711897"
"0000328050"	"0000712004"
"0000328053"	"0000711900"
"0000328053"	"0000712015"
"0000328056"	"0000711903"
"0000328056"	"0000711983"
"0000328058"	"0000711905"
"0000328058"	"0000711984"
"0000328059"	"0000711906"
"0000328059"	"0000711985"
"0000328062"	"0000711909"
"0000328062"	"0000712006"
"0000328068"	"0000711915"
"0000328068"	"0000712008"
"0000328069"	"0000711916"
"0000328069"	"0000712002"
"0000328070"	"0000711917"
"0000328070"	"0000712003"
"0000328085"	"0000711932"
"0000328085"	"0000712037"
"0000328093"	"0000711940"
"0000328093"	"0000712009"
"0000328098"	"0000711945"
"0000328098"	"0000712025"
"0000328101"	"0000711948"
"0000328101"	"0000712012"
"0000328102"	"0000711949"
"0000328103"	"0000711950"
"0000328103"	"0000711992"
"0000328105"	"0000711952"
"0000328105"	"0000712029"
"0000328106"	"0000711953"
"0000328106"	"0000711993"
"0000328111"	"0000711958"
"0000328111"	"0000712045"
"0000328112"	"0000711959"
"0000328112"	"0000712046"
"0000328115"	"0000711962"
"0000328115"	"0000712013"
"0000328116"	"0000711963"
"0000328118"	"0000711965"
"0000328119"	"0000711966"
"0000328123"	"0000711970"
"0000328125"	"0000711972"
"0000328125"	"0000712036"
"0000375503"	"0000787469"
"0000440286"	"0000936616"
"0000440286"	"0000936647"
"0000440287"	"0000936617"
"0000440288"	"0000936618"
"0000440289"	"0000936619"
"0000440290"	"0000936620"
"0000440290"	"0000936648"
"0000440291"	"0000936621"
"0000440291"	"0000936649"
"0000440292"	"0000936622"
"0000440292"	"0000936650"
"0000440293"	"0000936623"
"0000440293"	"0000936651"
"0000440294"	"0000936624"
"0000440294"	"0000936652"
"0000440295"	"0000936625"
"0000440295"	"0000936653"
"0000440296"	"0000936626"
"0000440296"	"0000936654"
"0000440297"	"0000936627"
"0000440297"	"0000936655"
"0000440298"	"0000936628"
"0000440298"	"0000936656"
"0000440299"	"0000936629"
"0000440299"	"0000936657"
"0000440300"	"0000936630"
"0000440301"	"0000936631"
"0000440301"	"0000936658"
"0000440316"	"0000936646"
"0000440316"	"0000936669"
"0000440319"	"0000936676"
"0000440319"	"0000936696"
"0000440320"	"0000936677"
"0000440320"	"0000936697"
"0000440322"	"0000936679"
"0000440322"	"0000936699"
"0000440324"	"0000936681"
"0000440324"	"0000936701"
"0000440325"	"0000936682"
"0000440327"	"0000936684"
"0000440327"	"0000936703"
"0000440330"	"0000936687"
"0000440330"	"0000936706"
"0000440331"	"0000936688"
"0000440331"	"0000936707"
"0000440332"	"0000936689"
"0000440332"	"0000936708"
"0000440333"	"0000936690"
"0000440334"	"0000936691"
"0000440335"	"0000936692"
"0000440335"	"0000936709"
"0000440337"	"0000936710"
"0000440337"	"0000936716"
"0000440338"	"0000936711"
"0000440338"	"0000936717"
"0000440339"	"0000936712"
"0000440339"	"0000936718"
"0000440340"	"0000936713"
"0000440340"	"0000936719"
"0000440341"	"0000936714"
"0000440341"	"0000936720"
"0000440342"	"0000936715"
"0000440342"	"0000936721"
"0000440343"	"0000936722"
"0000440343"	"0000936730"
"0000440344"	"0000936723"
"0000440345"	"0000936724"
"0000440345"	"0000936731"
"0000440347"	"0000936726"
"0000440347"	"0000936733"
"0000440348"	"0000936727"
"0000440348"	"0000936734"
"0000440350"	"0000936729"
"0000440350"	"0000936736"
"0000440351"	"0000936746"
"0000440351"	"0000936851"
"0000440352"	"0000936747"
"0000440353"	"0000936748"
"0000440354"	"0000936749"
"0000440355"	"0000936750"
"0000440356"	"0000936751"
"0000440357"	"0000936752"
"0000440357"	"0000936852"
"0000440358"	"0000936753"
"0000440358"	"0000936853"
"0000440359"	"0000936754"
"0000440359"	"0000936854"
"0000440360"	"0000936755"
"0000440360"	"0000936855"
"0000440361"	"0000936756"
"0000440361"	"0000936856"
"0000440365"	"0000936760"
"0000440366"	"0000936761"
"0000440367"	"0000936762"
"0000440368"	"0000936763"
"0000440369"	"0000936764"
"0000440369"	"0000936860"
"0000440370"	"0000936765"
"0000440370"	"0000936861"
"0000440371"	"0000936766"
"0000440371"	"0000936862"
"0000440372"	"0000936767"
"0000440372"	"0000936863"
"0000440380"	"0000936775"
"0000440380"	"0000936871"
"0000440381"	"0000936776"
"0000440381"	"0000936872"
"0000440382"	"0000936777"
"0000440382"	"0000936873"
"0000440383"	"0000936778"
"0000440383"	"0000936874"
"0000440386"	"0000936781"
"0000440386"	"0000936877"
"0000440391"	"0000936786"
"0000440391"	"0000936881"
"0000440392"	"0000936787"
"0000440392"	"0000936882"
"0000440393"	"0000936788"
"0000440393"	"0000936883"
"0000440396"	"0000936791"
"0000440396"	"0000936884"
"0000440398"	"0000936793"
"0000440398"	"0000936886"
"0000440416"	"0000936811"
"0000440416"	"0000936901"
"0000440417"	"0000936812"
"0000440417"	"0000936902"
"0000440425"	"0000936820"
"0000440425"	"0000936910"
"0000440427"	"0000936822"
"0000440429"	"0000936824"
"0000440429"	"0000936912"
"0000440430"	"0000936825"
"0000440430"	"0000936913"
"0000440435"	"0000936830"
"0000440435"	"0000936918"
"0000440436"	"0000936831"
"0000440436"	"0000936919"
"0000440439"	"0000936834"
"0000440439"	"0000936920"
"0000440440"	"0000936835"
"0000440440"	"0000936921"
"0000440441"	"0000936836"
"0000440442"	"0000936837"
"0000440447"	"0000936842"
"0000440450"	"0000936845"
"0000440456"	"0000936931"
"0000440456"	"0000936940"
"0000440457"	"0000936932"
"0000440457"	"0000936941"
"0000440458"	"0000936933"
"0000440458"	"0000936942"
"0000440459"	"0000936934"
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