### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = NPC1)
# 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}}"
"NPC1"	"Niemann-Pick disease, type C1"	"18"	"q11-q12"	"unknown"	"NG_012795.2"	"UD_132118678011"	""	"http://www.LOVD.nl/NPC1"	""	"1"	"7897"	"4864"	"607623"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland."	""	"g"	"http://databases.lovd.nl/shared/refseq/NPC1_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00002"	"2010-04-29 00:00:00"	"00006"	"2023-04-01 17:33:39"	"00000"	"2025-05-05 21:14:00"


## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{geneid}}"	"{{name}}"	"{{id_mutalyzer}}"	"{{id_ncbi}}"	"{{id_ensembl}}"	"{{id_protein_ncbi}}"	"{{id_protein_ensembl}}"	"{{id_protein_uniprot}}"	"{{remarks}}"	"{{position_c_mrna_start}}"	"{{position_c_mrna_end}}"	"{{position_c_cds_end}}"	"{{position_g_mrna_start}}"	"{{position_g_mrna_end}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00000132"	"NPC1"	"Niemann-Pick disease, type C1"	"001"	"NM_000271.4"	""	"NP_000262.2"	""	""	""	"-274"	"4540"	"3837"	"21166581"	"21111463"	"00002"	"2012-05-11 13:12:12"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 8
"{{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"	""	""
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"00344"	"EE"	"encephalopathy, epileptic (EE)"	""	""	""	""	""	"00006"	"2014-03-12 21:57:45"	"00006"	"2015-12-07 07:11:25"
"01975"	"NPC1"	"Niemann-Pick disease, type C1"	"AR"	"257220"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2023-03-23 09:35:17"
"02087"	"SIDS"	"death, sudden, syndrome, infant (SIDS)"	"AR"	"272120"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"05356"	"ataxia"	"ataxia"	""	""	""	""	""	"00006"	"2017-12-21 19:14:03"	""	""
"05487"	"cancer, rectal"	"cancer, rectal"	""	""	""	""	""	"00006"	"2018-10-25 09:29:33"	""	""
"05812"	"NP"	"Niemann-Pick disease (NP)"	""	""	""	""	""	"00006"	"2020-08-13 16:01:35"	"00006"	"2020-12-24 09:23:19"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"NPC1"	"01975"
"NPC1"	"05812"


## Individuals ## Do not remove or alter this header ##
## Count = 322
"{{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}}"
"00000027"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000047"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000071"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00073121"	""	""	""	"1"	""	"01400"	"ATX42"	""	"F"	"no"	"France"	""	"0"	""	""	""	""
"00073122"	""	""	""	"1"	""	"01400"	"ATX498"	""	"F"	"no"	"France"	""	"0"	""	""	""	""
"00132806"	""	""	""	"2"	""	"00006"	"{PMID:Di Leo 2004:15459971}"	"2-generation family, affected brother/sister, unaffected heterozygous carrier parents"	"M"	""	"Italy"	""	"0"	""	""	""	"15459971"
"00148570"	""	""	""	"1"	""	"01741"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00165102"	""	""	""	"1"	""	"02519"	"Kawazoe T, submitted"	""	"M"	"no"	"Japan"	"25y"	"0"	""	"Miglustat"	""	"Case 1"
"00165175"	""	""	""	"2"	""	"02519"	"Kawazoe T, submitted"	""	"F"	"no"	"Japan"	"28y"	"0"	""	"Miglustat"	""	"Case 2"
"00165176"	""	""	""	"1"	""	"02519"	"Kawazoe T, submitted"	""	"F"	"no"	"Japan"	"35y"	"0"	""	"Miglustat"	""	"Case 3"
"00181150"	""	""	""	"1"	""	"02552"	""	""	"M"	"no"	"Eritrea"	""	"0"	""	""	""	"72440"
"00208611"	""	""	""	"2"	""	"03131"	""	""	""	""	""	""	"0"	""	""	""	"Fam918"
"00291919"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00291920"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00291921"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00291922"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00291923"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00306225"	""	""	""	"1"	""	"03695"	""	""	"F"	""	"China"	""	""	""	""	""	"132"
"00307148"	""	""	""	"1"	""	"00006"	"{PMID:Krygier 2019:30548255}"	"family, 2 affected brothers"	"M"	""	"Poland"	""	"0"	""	""	""	"Pat6"
"00307446"	""	""	""	"1"	""	"00006"	"{PMID:Stalke 2018:28776642}"	""	""	""	"Germany"	""	"0"	""	""	""	"Fam19PatLP142"
"00314902"	""	""	""	"1"	""	"00006"	"{PMID:Zhu 2015:25590979}"	""	"M"	""	"United States"	""	"0"	""	""	""	"Trio95"
"00361472"	""	""	""	"1"	""	"01741"	""	""	""	""	""	""	""	""	""	""	""
"00374118"	""	""	""	"1"	""	"00006"	"{PMID:Lefebvre 2021:32732226}"	"fetus"	"F"	""	"France"	""	"0"	""	""	""	""
"00374421"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-2000"
"00374796"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"R-0532"
"00431870"	""	""	""	"1"	""	"01602"	""	""	"M"	""	"Switzerland"	"00y03m"	""	""	""	"Europe"	"SUDS032"
"00431883"	""	""	""	"1"	""	"01602"	""	""	"M"	""	"Switzerland"	"00y03m"	""	""	""	"Europe"	"SIDS123"
"00431889"	""	""	""	"1"	""	"01602"	""	""	"F"	""	"Switzerland"	"00y02m"	""	""	""	"Europe"	"SIDS226"
"00434304"	""	""	""	"1"	""	"00006"	"{PMID:Lopez de Frutos 2020:32060698}"	"3-generation family, 1 affected, unaffected heterozygous parents/relatives"	"F"	""	"Spain"	""	"0"	""	""	""	"Pat1"
"00434305"	""	""	""	"1"	""	"00006"	"{PMID:Lopez de Frutos 2020:32060698}"	"2-generation family, 1 affected, unaffected heterozygous parents/relatives"	"M"	""	"Spain"	""	"0"	""	""	""	"Pat2"
"00434306"	""	""	""	"1"	""	"00006"	"{PMID:Lopez de Frutos 2020:32060698}"	"2-generation family, 1 affected, unaffected heterozygous parents"	"M"	""	"Spain"	""	"0"	""	""	""	"Pat3"
"00434307"	""	""	""	"1"	""	"00006"	"{PMID:Lopez de Frutos 2020:32060698}"	"2-generation family, 1 affected, unaffected heterozygous parents/relatives"	"M"	""	"Spain"	""	"0"	""	""	""	"Pat4"
"00434308"	""	""	""	"1"	""	"00006"	"{PMID:Lopez de Frutos 2020:32060698}"	""	"F"	""	"Spain"	""	"0"	""	""	""	"Pat5"
"00434309"	""	""	""	"1"	""	"00006"	"{PMID:Lopez de Frutos 2020:32060698}"	""	"F"	""	"Spain"	""	"0"	""	""	""	"Pat6"
"00434310"	""	""	""	"1"	""	"00006"	"{PMID:Lopez de Frutos 2020:32060698}"	""	"M"	""	"Spain"	""	"0"	""	""	""	"Pat7"
"00434311"	""	""	""	"3"	""	"00006"	"{PMID:Lopez de Frutos 2020:32060698}"	"analysis 22 cases NPC"	""	""	"Spain"	""	"0"	""	""	""	""
"00434313"	""	""	""	"2"	""	"00006"	"{PMID:Fancello 2009:19252935}"	""	""	""	"Italy"	""	"0"	""	""	""	"NP3"
"00434314"	""	""	""	"2"	""	"00006"	"{PMID:Fancello 2009:19252935}"	""	""	""	"Italy"	"3y"	"0"	""	""	""	"NP10"
"00434315"	""	""	""	"2"	""	"00006"	"{PMID:Fancello 2009:19252935}"	""	""	""	"Italy"	"3y"	"0"	""	""	""	"NP18"
"00434317"	""	""	"00434313"	"1"	""	"00006"	"{PMID:Fancello 2009:19252935}"	""	""	""	"Italy"	"2m"	"0"	""	""	""	"NP3sib"
"00434318"	""	""	""	"1"	""	"00006"	"{PMID:Fancello 2009:19252935}"	""	""	""	"Italy"	""	"0"	""	""	""	"NP7"
"00434319"	""	""	""	"1"	""	"00006"	"{PMID:Fancello 2009:19252935}"	""	""	""	"Italy"	"2m"	"0"	""	""	""	"NP9"
"00434320"	""	""	"00434314"	"1"	""	"00006"	"{PMID:Fancello 2009:19252935}"	""	""	""	"Italy"	"2m"	"0"	""	""	""	"NP10sib"
"00434321"	""	""	""	"1"	""	"00006"	"{PMID:Fancello 2009:19252935}"	""	""	""	"Italy"	""	"0"	""	""	""	"NP12"
"00434322"	""	""	""	"2"	""	"00006"	"{PMID:Fancello 2009:19252935}"	""	""	""	"Italy"	""	"0"	""	""	""	"NP13"
"00434323"	""	""	"00434322"	"1"	""	"00006"	"{PMID:Fancello 2009:19252935}"	""	""	""	"Italy"	""	"0"	""	""	""	"NP13sib"
"00434324"	""	""	""	"1"	""	"00006"	"{PMID:Fancello 2009:19252935}"	""	""	""	"Italy"	""	"0"	""	""	""	"NP14"
"00434325"	""	""	""	"1"	""	"00006"	"{PMID:Fancello 2009:19252935}"	""	""	""	"Italy"	""	"0"	""	""	""	"NP16"
"00434326"	""	""	"00434315"	"1"	""	"00006"	"{PMID:Fancello 2009:19252935}"	""	""	""	"Italy"	"4m"	"0"	""	""	""	"NP18sib"
"00434327"	""	""	""	"1"	""	"00006"	"{PMID:Fancello 2009:19252935}"	""	""	""	"Italy"	""	"0"	""	""	""	"NP30"
"00434330"	""	""	""	"1"	""	"00006"	"{PMID:Fancello 2009:19252935}"	""	""	""	"Italy"	"5y"	"0"	""	""	""	"NP1"
"00434331"	""	""	""	"1"	""	"00006"	"{PMID:Fancello 2009:19252935}"	""	""	""	"Italy"	"10y"	"0"	""	""	""	"NP2"
"00434332"	""	""	""	"1"	""	"00006"	"{PMID:Fancello 2009:19252935}"	""	""	""	"Italy"	""	"0"	""	""	""	"NP4"
"00434333"	""	""	""	"1"	""	"00006"	"{PMID:Fancello 2009:19252935}"	""	""	""	"Italy"	""	"0"	""	""	""	"NP5"
"00434334"	""	""	""	"1"	""	"00006"	"{PMID:Fancello 2009:19252935}"	""	""	""	"Italy"	""	"0"	""	""	""	"NP6"
"00434335"	""	""	""	"1"	""	"00006"	"{PMID:Fancello 2009:19252935}"	""	""	""	"Italy"	""	"0"	""	""	""	"NP11"
"00434336"	""	""	""	"1"	""	"00006"	"{PMID:Fancello 2009:19252935}"	""	""	""	"Italy"	""	"0"	""	""	""	"NP15"
"00434337"	""	""	""	"1"	""	"00006"	"{PMID:Fancello 2009:19252935}"	""	""	""	"Italy"	"5y"	"0"	""	""	""	"NP17"
"00434338"	""	""	""	"2"	""	"00006"	"{PMID:Fancello 2009:19252935}"	""	""	""	"Italy"	""	"0"	""	""	""	"NP19"
"00434339"	""	""	""	"1"	""	"00006"	"{PMID:Fancello 2009:19252935}"	""	""	""	"Italy"	""	"0"	""	""	""	"NP25"
"00434340"	""	""	""	"1"	""	"00006"	"{PMID:Fancello 2009:19252935}"	""	""	""	"Italy"	""	"0"	""	""	""	"NP26"
"00434341"	""	""	""	"1"	""	"00006"	"{PMID:Fancello 2009:19252935}"	""	""	""	"Italy"	""	"0"	""	""	""	"NP27"
"00434342"	""	""	""	"1"	""	"00006"	"{PMID:Fancello 2009:19252935}"	""	""	""	"Italy"	""	"0"	""	""	""	"NP28"
"00434343"	""	""	""	"3"	""	"00006"	"{PMID:Fancello 2009:19252935}"	""	""	""	"Italy"	""	"0"	""	""	""	"NP24"
"00434344"	""	""	"00434343"	"1"	""	"00006"	"{PMID:Fancello 2009:19252935}"	""	""	""	"Italy"	""	"0"	""	""	""	"NP24sib"
"00434345"	""	""	"00434343"	"1"	""	"00006"	"{PMID:Fancello 2009:19252935}"	""	""	""	"Italy"	""	"0"	""	""	""	"NP25sib"
"00434346"	""	""	""	"3"	""	"00006"	"{PMID:Fancello 2009:19252935}"	""	""	""	"Italy"	""	"0"	""	""	""	"NP32"
"00434347"	""	""	"00434346"	"1"	""	"00006"	"{PMID:Fancello 2009:19252935}"	""	""	""	"Italy"	""	"0"	""	""	""	"NP32sib1"
"00434348"	""	""	"00434346"	"1"	""	"00006"	"{PMID:Fancello 2009:19252935}"	""	""	""	"Italy"	""	"0"	""	""	""	"NP32sib2"
"00434349"	""	""	""	"1"	""	"00006"	"{PMID:Fancello 2009:19252935}"	""	""	""	"Italy"	""	"0"	""	""	""	"NP21"
"00434350"	""	""	""	"1"	""	"00006"	"{PMID:Fancello 2009:19252935}"	""	""	""	"Italy"	""	"0"	""	""	""	"NP23"
"00434351"	""	""	""	"1"	""	"00006"	"{PMID:Fancello 2009:19252935}"	""	""	""	"Italy"	""	"0"	""	""	""	"NP31"
"00434352"	""	""	""	"1"	""	"00006"	"{PMID:Fancello 2009:19252935}"	""	""	""	"Italy"	""	"0"	""	""	""	"NP33"
"00434353"	""	""	""	"1"	""	"00006"	"{PMID:Fancello 2009:19252935}"	""	""	""	"Italy"	""	"0"	""	""	""	"NP8"
"00434354"	""	""	"00434338"	"1"	""	"00006"	"{PMID:Fancello 2009:19252935}"	""	""	""	"Italy"	""	"0"	""	""	""	"NP19sib"
"00434355"	""	""	""	"1"	""	"00006"	"{PMID:Fancello 2009:19252935}"	""	""	""	"Italy"	""	"0"	""	""	""	"NP22"
"00434356"	""	""	""	"1"	""	"00006"	"{PMID:Fancello 2009:19252935}"	""	""	""	"Italy"	""	"0"	""	""	""	"NP29"
"00434366"	""	""	""	"2"	""	"00006"	"{PMID:Klunemann 2002:12447927}"	"3-generation family, 2 affected sisters, unaffected heterozygous parents/relatives"	"F"	""	"Canada"	""	"0"	""	""	"French-Canadian;Germany;Ireland"	"FamPat2.2/3"
"00434374"	""	""	""	"1"	""	"00006"	"{PMID:Millat 2005:16126423}"	""	""	""	"Belgium"	"2y5m"	"0"	""	""	""	"99010"
"00434375"	""	""	""	"1"	""	"00006"	"{PMID:Millat 2005:16126423}"	""	""	""	"France"	"4y4m"	"0"	""	""	""	"21124"
"00434376"	""	""	""	"1"	""	"00006"	"{PMID:Millat 2005:16126423}"	""	""	""	"Pakistan"	"4y6m"	"0"	""	""	""	"22032"
"00434377"	""	""	""	"1"	""	"00006"	"{PMID:Millat 2005:16126423}"	""	""	""	"Canada"	"6m"	"0"	""	""	"French-Canadian"	"93175"
"00434378"	""	""	""	"1"	""	"00006"	"{PMID:Millat 2005:16126423}"	""	""	""	"France"	""	"0"	""	""	""	"21133"
"00434379"	""	""	""	"1"	""	"00006"	"{PMID:Millat 2005:16126423}"	""	""	""	"France"	"5y9m"	"0"	""	""	""	"82042"
"00434380"	""	""	""	"1"	""	"00006"	"{PMID:Millat 2005:16126423}"	""	""	""	"France;Portugal"	""	"0"	""	""	""	"23050"
"00434381"	""	""	""	"1"	""	"00006"	"{PMID:Millat 2005:16126423}"	""	""	""	"France"	"9m"	"0"	""	""	""	"94097"
"00434382"	""	""	""	"1"	""	"00006"	"{PMID:Millat 2005:16126423}"	""	""	""	"France"	"8m"	"0"	""	""	""	"96127"
"00434383"	""	""	""	"1"	""	"00006"	"{PMID:Millat 2005:16126423}"	""	""	""	"France"	""	"0"	""	""	""	"23015"
"00434384"	""	""	""	"1"	""	"00006"	"{PMID:Millat 2005:16126423}"	""	""	""	"France"	"11m"	"0"	""	""	""	"94102"
"00434385"	""	""	""	"1"	""	"00006"	"{PMID:Millat 2005:16126423}"	""	""	""	"France"	""	"0"	""	""	""	"20019"
"00434386"	""	""	""	"1"	""	"00006"	"{PMID:Millat 2005:16126423}"	""	""	""	"France"	"16y6m"	"0"	""	""	""	"250"
"00434387"	""	""	""	"1"	""	"00006"	"{PMID:Millat 2005:16126423}"	""	""	""	"France"	"27y"	"0"	""	""	""	"85091"
"00434388"	""	""	""	"1"	""	"00006"	"{PMID:Millat 2005:16126423}"	""	""	""	"France"	""	"0"	""	""	""	"96054"
"00434389"	""	""	""	"1"	""	"00006"	"{PMID:Millat 2005:16126423}"	""	""	""	"France"	""	"0"	""	""	""	"98033"
"00434390"	""	""	""	"1"	""	"00006"	"{PMID:Millat 2005:16126423}"	""	""	""	"Belgium"	""	"0"	""	""	""	"24129"
"00434391"	""	""	""	"1"	""	"00006"	"{PMID:Millat 2005:16126423}"	""	""	""	"France"	""	"0"	""	""	""	"96091"
"00434392"	""	""	""	"1"	""	"00006"	"{PMID:Millat 2005:16126423}"	""	""	""	"France"	""	"0"	""	""	""	"84045"
"00434393"	""	""	""	"1"	""	"00006"	"{PMID:Millat 2005:16126423}"	""	""	""	"France"	""	"0"	""	""	""	"24023"
"00434394"	""	""	""	"1"	""	"00006"	"{PMID:Millat 2005:16126423}"	""	""	""	"Belgium"	"19y"	"0"	""	""	""	"82052"
"00434395"	""	""	""	"1"	""	"00006"	"{PMID:Millat 2005:16126423}"	""	""	""	"France"	""	"0"	""	""	""	"96092"
"00434396"	""	""	""	"1"	""	"00006"	"{PMID:Millat 2005:16126423}"	""	""	""	"Germany"	""	"0"	""	""	""	"98142"
"00434397"	""	""	""	"1"	""	"00006"	"{PMID:Millat 2005:16126423}"	""	""	""	"France"	""	"0"	""	""	""	"90135"
"00434398"	""	""	""	"1"	""	"00006"	"{PMID:Millat 2005:16126423}"	""	""	""	"France"	""	"0"	""	""	""	"22037"
"00434399"	""	""	""	"1"	""	"00006"	"{PMID:Millat 2005:16126423}"	""	""	""	"Algeria"	"29y"	"0"	""	""	""	"98137"
"00434400"	""	""	""	"1"	""	"00006"	"{PMID:Millat 2005:16126423}"	""	""	""	"Germany"	"37y"	"0"	""	""	""	"96157"
"00434401"	""	""	""	"1"	""	"00006"	"{PMID:Millat 2005:16126423}"	""	""	""	"France"	""	"0"	""	""	""	"22108"
"00434402"	""	""	""	"1"	""	"00006"	"{PMID:Millat 2005:16126423}"	""	""	""	"France"	""	"0"	""	""	""	"96133"
"00434403"	""	""	""	"1"	""	"00006"	"{PMID:Millat 2005:16126423}"	""	""	""	"France"	""	"0"	""	""	""	"21111"
"00434404"	""	""	""	"1"	""	"00006"	"{PMID:Millat 2005:16126423}"	""	""	""	"France"	""	"0"	""	""	""	"21121"
"00434405"	""	""	""	"1"	""	"00006"	"{PMID:Millat 2005:16126423}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"23090"
"00434406"	""	""	""	"1"	""	"00006"	"{PMID:Millat 2005:16126423}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"89090"
"00434409"	""	""	""	"1"	""	"00006"	"{PMID:Millat 2005:16126423}"	""	""	""	""	""	"0"	""	""	""	""
"00434410"	""	""	""	"1"	""	"00006"	"{PMID:Millat 2005:16126423}"	""	""	""	""	""	"0"	""	""	""	""
"00434411"	""	""	""	"1"	""	"00006"	"{PMID:Millat 2005:16126423}"	""	""	""	""	""	"0"	""	""	""	""
"00434412"	""	""	""	"1"	""	"00006"	"{PMID:Millat 2005:16126423}"	""	""	""	""	""	"0"	""	""	""	""
"00434413"	""	""	""	"1"	""	"00006"	"{PMID:Millat 2005:16126423}"	""	""	""	""	""	"0"	""	""	""	""
"00434414"	""	""	""	"1"	""	"00006"	"{PMID:Millat 2005:16126423}"	""	""	""	""	""	"0"	""	""	""	""
"00434415"	""	""	""	"1"	""	"00006"	"{PMID:Millat 2005:16126423}"	""	""	""	""	""	"0"	""	""	""	""
"00434416"	""	""	""	"1"	""	"00006"	"{PMID:Millat 2005:16126423}"	""	""	""	""	""	"0"	""	""	""	""
"00434417"	""	""	""	"1"	""	"00006"	"{PMID:Millat 2005:16126423}"	""	""	""	""	""	"0"	""	""	""	""
"00434418"	""	""	""	"1"	""	"00006"	"{PMID:Millat 2005:16126423}"	""	""	""	""	""	"0"	""	""	""	""
"00434419"	""	""	""	"1"	""	"00006"	"{PMID:Millat 2005:16126423}"	""	""	""	""	""	"0"	""	""	""	""
"00434440"	""	""	""	"1"	""	"00006"	"{PMID:Dvorakova 2006:16802107}"	""	"F"	""	"Czech Republic"	"53y"	"0"	""	""	""	"patient"
"00434446"	""	""	""	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat1"
"00434447"	""	""	""	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat2"
"00434448"	""	""	""	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat3"
"00434449"	""	""	""	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat4"
"00434450"	""	""	""	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat5"
"00434451"	""	""	""	"2"	""	"00006"	"{PMID:Imrie 2007:17160617}"	"family, 2 affected sibs"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"FamAPat6"
"00434452"	""	""	"00434451"	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	"sib"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"FamAPat7"
"00434453"	""	""	""	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	""	"M"	""	"United Kingdom (Great Britain)"	"9y"	"0"	""	""	""	"Pat9"
"00434454"	""	""	""	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	""	"F"	""	"United Kingdom (Great Britain)"	"9y"	"0"	""	""	""	"Pat11"
"00434455"	""	""	""	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat12"
"00434456"	""	""	""	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	""	"F"	""	"United Kingdom (Great Britain)"	"28y"	"0"	""	""	""	"Pat15"
"00434457"	""	""	""	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat16"
"00434458"	""	""	""	"2"	""	"00006"	"{PMID:Imrie 2007:17160617}"	"family, 2 affected sibs"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"FamCPat17"
"00434459"	""	""	""	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat18"
"00434460"	""	""	""	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat19"
"00434461"	""	""	""	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat20"
"00434462"	""	""	""	"4"	""	"00006"	"{PMID:Imrie 2007:17160617}"	"family, 4 affected sibs"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"FamBPat21"
"00434463"	""	""	""	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat22"
"00434464"	""	""	""	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	""	"M"	""	"United Kingdom (Great Britain)"	"9y"	"0"	""	""	""	"Pat23"
"00434465"	""	""	"00434458"	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	"sib"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"FamCPat24"
"00434466"	""	""	""	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat25"
"00434467"	""	""	""	"2"	""	"00006"	"{PMID:Imrie 2007:17160617}"	"family, 2 affected sibs"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"FamDPat30"
"00434468"	""	""	""	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	""	"M"	""	"United Kingdom (Great Britain)"	"32y"	"0"	""	""	""	"Pat33"
"00434469"	""	""	""	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat36"
"00434470"	""	""	""	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	""	"M"	""	"United Kingdom (Great Britain)"	"12y"	"0"	""	""	""	"Pat47"
"00434471"	""	""	""	"2"	""	"00006"	"{PMID:Imrie 2007:17160617}"	"family, 2 affected sibs"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"FamFPat35"
"00434472"	""	""	""	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat37"
"00434473"	""	""	""	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat38"
"00434474"	""	""	""	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat39"
"00434475"	""	""	""	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	""	"F"	""	"United Kingdom (Great Britain)"	"14y"	"0"	""	""	""	"Pat41"
"00434476"	""	""	""	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	""	"F"	""	"United Kingdom (Great Britain)"	"16y"	"0"	""	""	""	"Pat42"
"00434477"	""	""	""	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat45"
"00434478"	""	""	""	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat46"
"00434479"	""	""	""	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	""	"F"	""	"United Kingdom (Great Britain)"	"13y"	"0"	""	""	""	"Pat48"
"00434480"	""	""	""	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	""	"M"	""	"United Kingdom (Great Britain)"	"9y"	"0"	""	""	""	"Pat49"
"00434481"	""	""	""	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	""	"F"	""	"United Kingdom (Great Britain)"	"9y"	"0"	""	""	""	"Pat51"
"00434482"	""	""	""	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat53"
"00434483"	""	""	""	"2"	""	"00006"	"{PMID:Imrie 2002:12555942}, {PMID:Imrie 2007:17160617}"	"family, 2 affected sibs"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"FamHPat55"
"00434484"	""	""	""	"1"	""	"00006"	"{PMID:Imrie 2002:12555942}, {PMID:Imrie 2007:17160617}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat56"
"00434485"	""	""	"00434471"	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	"sib"	"M"	""	"United Kingdom (Great Britain)"	"7y"	"0"	""	""	""	"FamFPat57"
"00434486"	""	""	""	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat58"
"00434487"	""	""	""	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat61"
"00434488"	""	""	""	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat63"
"00434489"	""	""	""	"2"	""	"00006"	"{PMID:Imrie 2007:17160617}"	"family, 2 affected sibs"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"FamEPat34"
"00434490"	""	""	""	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat60"
"00434491"	""	""	""	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat65"
"00434492"	""	""	""	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat66"
"00434493"	""	""	""	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat67"
"00434494"	""	""	"00434483"	"1"	""	"00006"	"{PMID:Imrie 2002:12555942}, {PMID:Imrie 2007:17160617}"	"sib"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"FamHPat68"
"00434495"	""	""	""	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	""	"F"	""	"United Kingdom (Great Britain)"	"21y"	"0"	""	""	""	"Pat69"
"00434496"	""	""	""	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	""	"F"	""	"United Kingdom (Great Britain)"	"22y"	"0"	""	""	""	"Pat70"
"00434497"	""	""	""	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	""	"F"	""	"United Kingdom (Great Britain)"	"22y"	"0"	""	""	""	"Pat71"
"00434498"	""	""	"00434489"	"1"	""	"00006"	"{PMID:Imrie 2002:12555942}, {PMID:Imrie 2007:17160617}"	"sib"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"FamEPat72"
"00434499"	""	""	""	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	""	"F"	""	"United Kingdom (Great Britain)"	"30y"	"0"	""	""	""	"Pat73"
"00434500"	""	""	""	"2"	""	"00006"	"{PMID:Imrie 2002:12555942}, {PMID:Imrie 2007:17160617}"	"family, 2 affected sibs"	"M"	""	"United Kingdom (Great Britain)"	"28y"	"0"	""	""	""	"FamJPat75"
"00434501"	""	""	""	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	""	"F"	""	"United Kingdom (Great Britain)"	"40y"	"0"	""	""	""	"Pat78"
"00434502"	""	""	""	"2"	""	"00006"	"{PMID:Imrie 2002:12555942}, {PMID:Imrie 2007:17160617}"	"family, 2 affected sibs"	"F"	""	"United Kingdom (Great Britain)"	"23y"	"0"	""	""	""	"FamIPat79"
"00434503"	""	""	""	"3"	""	"00006"	"{PMID:Imrie 2007:17160617}"	"family, 3 affected sibs"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"FamKPat82"
"00434504"	""	""	"00434502"	"1"	""	"00006"	"{PMID:Imrie 2002:12555942}, {PMID:Imrie 2007:17160617}"	"sib"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"FamIPat83"
"00434505"	""	""	""	"1"	""	"00006"	"{PMID:Imrie 2002:12555942}, {PMID:Imrie 2007:17160617}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat87"
"00434506"	""	""	"00434503"	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	"sib"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"FamKPat89"
"00434507"	""	""	""	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat90"
"00434508"	""	""	"00434503"	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	"sib"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"FamKPat91"
"00434509"	""	""	""	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat93"
"00434510"	""	""	""	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat94"
"00434511"	""	""	"00434467"	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	"sib"	"M"	""	"United Kingdom (Great Britain)"	"11y"	"0"	""	""	""	"FamDPat26"
"00434512"	""	""	"00434462"	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	"sib"	"M"	""	"United Kingdom (Great Britain)"	"28d"	"0"	""	""	""	"FamBPat27"
"00434513"	""	""	"00434462"	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	"sib"	"M"	""	"United Kingdom (Great Britain)"	"56d"	"0"	""	""	""	"FamBPat28"
"00434514"	""	""	"00434462"	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	"sib"	"M"	""	"United Kingdom (Great Britain)"	"16y"	"0"	""	""	""	"FamBPat50"
"00434515"	""	""	"00434500"	"1"	""	"00006"	"{PMID:Imrie 2007:17160617}"	"sib"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"FamJPat86"
"00434516"	""	""	""	"1"	""	"00006"	"{PMID:Kaminski 2002:12408188}"	""	"M"	""	"Germany"	""	"0"	""	""	""	"Pat1"
"00434517"	""	""	""	"1"	""	"00006"	"{PMID:Kaminski 2002:12408188}"	""	"F"	""	"Germany"	""	"0"	""	""	""	"Pat2"
"00434518"	""	""	""	"2"	""	"00006"	"{PMID:Kaminski 2002:12408188}"	""	"F"	""	"Germany"	""	"0"	""	""	""	"Fam3Pat1"
"00434519"	""	""	"00434518"	"1"	""	"00006"	"{PMID:Kaminski 2002:12408188}"	""	"M"	""	"Germany"	""	"0"	""	""	""	"Fam3Pat2"
"00434520"	""	""	""	"1"	""	"00006"	"{PMID:Kaminski 2002:12408188}"	""	"M"	""	"Germany"	""	"0"	""	""	""	"Pat4"
"00434521"	""	""	""	"1"	""	"00006"	"{PMID:Park 2003:12955717}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434522"	""	""	""	"16"	""	"00006"	"{PMID:Park 2003:12955717}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434523"	""	""	""	"1"	""	"00006"	"{PMID:Park 2003:12955717}"	"analysis 50 control individuals"	""	""	"United States"	""	"0"	""	""	""	""
"00434524"	""	""	""	"1"	""	"00006"	"{PMID:Park 2003:12955717}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434525"	""	""	""	"1"	""	"00006"	"{PMID:Park 2003:12955717}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434526"	""	""	""	"38"	""	"00006"	"{PMID:Park 2003:12955717}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434527"	""	""	""	"1"	""	"00006"	"{PMID:Park 2003:12955717}"	"analysis 50 control individuals"	""	""	"United States"	""	"0"	""	""	""	""
"00434528"	""	""	""	"2"	""	"00006"	"{PMID:Park 2003:12955717}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434529"	""	""	""	"1"	""	"00006"	"{PMID:Park 2003:12955717}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434530"	""	""	""	"1"	""	"00006"	"{PMID:Park 2003:12955717}"	"analysis 50 control individuals"	""	""	"United States"	""	"0"	""	""	""	""
"00434531"	""	""	""	"1"	""	"00006"	"{PMID:Park 2003:12955717}"	"analysis 50 control individuals"	""	""	"United States"	""	"0"	""	""	""	""
"00434532"	""	""	""	"1"	""	"00006"	"{PMID:Park 2003:12955717}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434533"	""	""	""	"1"	""	"00006"	"{PMID:Park 2003:12955717}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434534"	""	""	""	"49"	""	"00006"	"{PMID:Park 2003:12955717}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434535"	""	""	""	"1"	""	"00006"	"{PMID:Park 2003:12955717}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434536"	""	""	""	"1"	""	"00006"	"{PMID:Park 2003:12955717}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434537"	""	""	""	"1"	""	"00006"	"{PMID:Park 2003:12955717}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434538"	""	""	""	"1"	""	"00006"	"{PMID:Park 2003:12955717}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434539"	""	""	""	"1"	""	"00006"	"{PMID:Park 2003:12955717}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434540"	""	""	""	"1"	""	"00006"	"{PMID:Park 2003:12955717}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434541"	""	""	""	"1"	""	"00006"	"{PMID:Park 2003:12955717}"	"analysis 50 control individuals"	""	""	"United States"	""	"0"	""	""	""	""
"00434542"	""	""	""	"1"	""	"00006"	"{PMID:Park 2003:12955717}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434543"	""	""	""	"1"	""	"00006"	"{PMID:Park 2003:12955717}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434544"	""	""	""	"1"	""	"00006"	"{PMID:Park 2003:12955717}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434545"	""	""	""	"49"	""	"00006"	"{PMID:Park 2003:12955717}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434546"	""	""	""	"1"	""	"00006"	"{PMID:Park 2003:12955717}"	"analysis 50 control individuals"	""	""	"United States"	""	"0"	""	""	""	""
"00434547"	""	""	""	"51"	""	"00006"	"{PMID:Park 2003:12955717}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434548"	""	""	""	"1"	""	"00006"	"{PMID:Park 2003:12955717}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434549"	""	""	""	"1"	""	"00006"	"{PMID:Park 2003:12955717}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434550"	""	""	""	"2"	""	"00006"	"{PMID:Park 2003:12955717}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434551"	""	""	""	"1"	""	"00006"	"{PMID:Park 2003:12955717}"	"analysis 50 control individuals"	""	""	"United States"	""	"0"	""	""	""	""
"00434552"	""	""	""	"47"	""	"00006"	"{PMID:Park 2003:12955717}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434553"	""	""	""	"3"	""	"00006"	"{PMID:Park 2003:12955717}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434554"	""	""	""	"1"	""	"00006"	"{PMID:Park 2003:12955717}"	"analysis 50 control individuals"	""	""	"United States"	""	"0"	""	""	""	""
"00434555"	""	""	""	"1"	""	"00006"	"{PMID:Morris 1999:10425213}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434556"	""	""	""	"1"	""	"00006"	"{PMID:Morris 1999:10425213}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434557"	""	""	""	"1"	""	"00006"	"{PMID:Morris 1999:10425213}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434558"	""	""	""	"1"	""	"00006"	"{PMID:Morris 1999:10425213}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434559"	""	""	""	"1"	""	"00006"	"{PMID:Morris 1999:10425213}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434560"	""	""	""	"1"	""	"00006"	"{PMID:Morris 1999:10425213}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434561"	""	""	""	"1"	""	"00006"	"{PMID:Morris 1999:10425213}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434562"	""	""	""	"1"	""	"00006"	"{PMID:Morris 1999:10425213}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434563"	""	""	""	"1"	""	"00006"	"{PMID:Morris 1999:10425213}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434564"	""	""	""	"1"	""	"00006"	"{PMID:Morris 1999:10425213}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434565"	""	""	""	"1"	""	"00006"	"{PMID:Morris 1999:10425213}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434566"	""	""	""	"1"	""	"00006"	"{PMID:Morris 1999:10425213}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434567"	""	""	""	"1"	""	"00006"	"{PMID:Morris 1999:10425213}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434568"	""	""	""	"1"	""	"00006"	"{PMID:Morris 1999:10425213}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434569"	""	""	""	"1"	""	"00006"	"{PMID:Morris 1999:10425213}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434570"	""	""	""	"1"	""	"00006"	"{PMID:Morris 1999:10425213}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434571"	""	""	""	"1"	""	"00006"	"{PMID:Morris 1999:10425213}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434572"	""	""	""	"1"	""	"00006"	"{PMID:Morris 1999:10425213}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434573"	""	""	""	"1"	""	"00006"	"{PMID:Morris 1999:10425213}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434574"	""	""	""	"1"	""	"00006"	"{PMID:Morris 1999:10425213}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434575"	""	""	""	"1"	""	"00006"	"{PMID:Morris 1999:10425213}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434576"	""	""	""	"1"	""	"00006"	"{PMID:Morris 1999:10425213}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434577"	""	""	""	"1"	""	"00006"	"{PMID:Morris 1999:10425213}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434578"	""	""	""	"1"	""	"00006"	"{PMID:Morris 1999:10425213}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434579"	""	""	""	"1"	""	"00006"	"{PMID:Morris 1999:10425213}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434580"	""	""	""	"1"	""	"00006"	"{PMID:Morris 1999:10425213}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434581"	""	""	""	"1"	""	"00006"	"{PMID:Morris 1999:10425213}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434582"	""	""	""	"1"	""	"00006"	"{PMID:Morris 1999:10425213}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434583"	""	""	""	"1"	""	"00006"	"{PMID:Morris 1999:10425213}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434584"	""	""	""	"1"	""	"00006"	"{PMID:Morris 1999:10425213}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434585"	""	""	""	"1"	""	"00006"	"{PMID:Morris 1999:10425213}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434586"	""	""	""	"1"	""	"00006"	"{PMID:Morris 1999:10425213}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434587"	""	""	""	"1"	""	"00006"	"{PMID:Morris 1999:10425213}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434588"	""	""	""	"1"	""	"00006"	"{PMID:Morris 1999:10425213}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434589"	""	""	""	"1"	""	"00006"	"{PMID:Morris 1999:10425213}"	"controls"	""	""	"United States"	""	"0"	""	""	""	""
"00434880"	""	""	""	"1"	""	"00006"	"{PMID:Bauer 2002:11754101}"	""	""	""	"Germany"	""	"0"	""	""	""	""
"00434881"	""	""	""	"1"	""	"00006"	"{PMID:Bauer 2002:11754101}"	""	""	""	"Germany"	""	"0"	""	""	""	""
"00434882"	""	""	""	"1"	""	"00006"	"{PMID:Bauer 2002:11754101}"	""	""	""	"Germany"	""	"0"	""	""	""	""
"00434883"	""	""	""	"1"	""	"00006"	"{PMID:Bauer 2002:11754101}"	""	""	""	"Germany"	""	"0"	""	""	""	""
"00434884"	""	""	""	"1"	""	"00006"	"{PMID:Bauer 2002:11754101}"	""	"M"	""	"Germany"	""	"0"	""	""	""	"Fam3"
"00434885"	""	""	""	"1"	""	"00006"	"{PMID:Bauer 2002:11754101}"	""	""	""	"Germany"	""	"0"	""	""	""	""
"00434886"	""	""	""	"1"	""	"00006"	"{PMID:Bauer 2002:11754101}"	""	"M"	""	"Germany"	""	"0"	""	""	""	"Fam1"
"00434887"	""	""	""	"1"	""	"00006"	"{PMID:Bauer 2002:11754101}"	""	"M"	""	"Germany"	""	"0"	""	""	""	"Fam5"
"00434888"	""	""	""	"1"	""	"00006"	"{PMID:Bauer 2002:11754101}"	""	"M"	""	"Germany"	""	"0"	""	""	""	"Fam2"
"00434889"	""	""	""	"1"	""	"00006"	"{PMID:Bauer 2002:11754101}"	""	""	""	"Germany"	""	"0"	""	""	""	""
"00434890"	""	""	""	"1"	""	"00006"	"{PMID:Bauer 2002:11754101}"	""	"M"	""	"Germany"	""	"0"	""	""	""	"Fam4"
"00434891"	""	""	""	"1"	""	"00006"	"{PMID:Bauer 2002:11754101}"	""	""	""	"Germany"	""	"0"	""	""	""	""
"00434940"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat1"
"00434941"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat2"
"00434942"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat3"
"00434943"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat4"
"00434944"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat5"
"00434945"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat6"
"00434946"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat7"
"00434947"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat8"
"00434948"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat9"
"00434949"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat10"
"00434950"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat11"
"00434951"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat12"
"00434952"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat14"
"00434953"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat15"
"00434954"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat16"
"00434955"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat17"
"00434956"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat18"
"00434957"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat19"
"00434958"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat20"
"00434959"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat21"
"00434960"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat22"
"00434961"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat23"
"00434962"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat24"
"00434963"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat25"
"00434964"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat26"
"00434965"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat27"
"00434966"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat28"
"00434967"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat29"
"00434968"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat30"
"00434969"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat31"
"00434970"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat32"
"00434971"	""	""	""	"2"	""	"00006"	"{PMID:Fernandez-Valero 2005:16098014}"	"family, 2 affected sibs"	""	""	"Spain"	""	"0"	""	""	""	"Pat33"
"00434972"	""	""	"00434971"	"1"	""	"00006"	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat33-sib"
"00434973"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat34"
"00434974"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat35"
"00434975"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat36"
"00434976"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat37"
"00434977"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat38"
"00434978"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat39"
"00434979"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat40"
"00456255"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Marmiesse 2014:24767253}"	""	"M"	""	"Spain"	""	"0"	""	""	""	"Pat33"
"00456264"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Marmiesse 2014:24767253}"	""	"M"	""	"Spain"	""	"0"	""	""	""	"Pat42"
"00456269"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Marmiesse 2014:24767253}"	""	"M"	""	"Spain"	""	"0"	""	""	""	"Pat47"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 319
"{{individualid}}"	"{{diseaseid}}"
"00073121"	"01975"
"00073122"	"01975"
"00132806"	"01975"
"00148570"	"01975"
"00165102"	"01975"
"00165175"	"01975"
"00165176"	"01975"
"00181150"	"00344"
"00208611"	"05487"
"00291919"	"00198"
"00291920"	"00198"
"00291921"	"00198"
"00291922"	"00198"
"00291923"	"00198"
"00306225"	"01975"
"00307148"	"05356"
"00307446"	"05812"
"00314902"	"00198"
"00361472"	"01975"
"00374118"	"00198"
"00374421"	"00198"
"00374796"	"00198"
"00431870"	"02087"
"00431883"	"02087"
"00431889"	"02087"
"00434304"	"05812"
"00434305"	"05812"
"00434306"	"05812"
"00434307"	"05812"
"00434308"	"05812"
"00434309"	"05812"
"00434310"	"05812"
"00434311"	"05812"
"00434313"	"05812"
"00434314"	"05812"
"00434315"	"05812"
"00434317"	"05812"
"00434318"	"05812"
"00434319"	"05812"
"00434320"	"05812"
"00434321"	"05812"
"00434322"	"05812"
"00434323"	"05812"
"00434324"	"05812"
"00434325"	"05812"
"00434326"	"05812"
"00434327"	"05812"
"00434330"	"05812"
"00434331"	"05812"
"00434332"	"05812"
"00434333"	"05812"
"00434334"	"05812"
"00434335"	"05812"
"00434336"	"05812"
"00434337"	"05812"
"00434338"	"05812"
"00434339"	"05812"
"00434340"	"05812"
"00434341"	"05812"
"00434342"	"05812"
"00434343"	"05812"
"00434344"	"05812"
"00434345"	"05812"
"00434346"	"05812"
"00434347"	"05812"
"00434348"	"05812"
"00434349"	"05812"
"00434350"	"05812"
"00434351"	"05812"
"00434352"	"05812"
"00434353"	"05812"
"00434354"	"05812"
"00434355"	"05812"
"00434356"	"05812"
"00434366"	"05812"
"00434374"	"05812"
"00434375"	"05812"
"00434376"	"05812"
"00434377"	"05812"
"00434378"	"05812"
"00434379"	"05812"
"00434380"	"05812"
"00434381"	"05812"
"00434382"	"05812"
"00434383"	"05812"
"00434384"	"05812"
"00434385"	"05812"
"00434386"	"05812"
"00434387"	"05812"
"00434388"	"05812"
"00434389"	"05812"
"00434390"	"05812"
"00434391"	"05812"
"00434392"	"05812"
"00434393"	"05812"
"00434394"	"05812"
"00434395"	"05812"
"00434396"	"05812"
"00434397"	"05812"
"00434398"	"05812"
"00434399"	"05812"
"00434400"	"05812"
"00434401"	"05812"
"00434402"	"05812"
"00434403"	"05812"
"00434404"	"05812"
"00434405"	"05812"
"00434406"	"05812"
"00434409"	"05812"
"00434410"	"05812"
"00434411"	"05812"
"00434412"	"05812"
"00434413"	"05812"
"00434414"	"05812"
"00434415"	"05812"
"00434416"	"05812"
"00434417"	"05812"
"00434418"	"05812"
"00434419"	"05812"
"00434440"	"05812"
"00434446"	"05812"
"00434447"	"05812"
"00434448"	"05812"
"00434449"	"05812"
"00434450"	"05812"
"00434451"	"05812"
"00434452"	"05812"
"00434453"	"05812"
"00434454"	"05812"
"00434455"	"05812"
"00434456"	"05812"
"00434457"	"05812"
"00434458"	"05812"
"00434459"	"05812"
"00434460"	"05812"
"00434461"	"05812"
"00434462"	"05812"
"00434463"	"05812"
"00434464"	"05812"
"00434465"	"05812"
"00434466"	"05812"
"00434467"	"05812"
"00434468"	"05812"
"00434469"	"05812"
"00434470"	"05812"
"00434471"	"05812"
"00434472"	"05812"
"00434473"	"05812"
"00434474"	"05812"
"00434475"	"05812"
"00434476"	"05812"
"00434477"	"05812"
"00434478"	"05812"
"00434479"	"05812"
"00434480"	"05812"
"00434481"	"05812"
"00434482"	"05812"
"00434483"	"05812"
"00434484"	"05812"
"00434485"	"05812"
"00434486"	"05812"
"00434487"	"05812"
"00434488"	"05812"
"00434489"	"05812"
"00434490"	"05812"
"00434491"	"05812"
"00434492"	"05812"
"00434493"	"05812"
"00434494"	"05812"
"00434495"	"05812"
"00434496"	"05812"
"00434497"	"05812"
"00434498"	"05812"
"00434499"	"05812"
"00434500"	"05812"
"00434501"	"05812"
"00434502"	"05812"
"00434503"	"05812"
"00434504"	"05812"
"00434505"	"05812"
"00434506"	"05812"
"00434507"	"05812"
"00434508"	"05812"
"00434509"	"05812"
"00434510"	"05812"
"00434511"	"05812"
"00434512"	"05812"
"00434513"	"05812"
"00434514"	"05812"
"00434515"	"05812"
"00434516"	"05812"
"00434517"	"05812"
"00434518"	"05812"
"00434519"	"05812"
"00434520"	"05812"
"00434521"	"00000"
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"00434541"	"00000"
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"00434543"	"00000"
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"00434547"	"00000"
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"00434553"	"00000"
"00434554"	"00000"
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"00434565"	"00000"
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"00434571"	"00000"
"00434572"	"00000"
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"00434586"	"00000"
"00434587"	"00000"
"00434588"	"00000"
"00434589"	"00000"
"00434880"	"05812"
"00434881"	"05812"
"00434882"	"05812"
"00434883"	"05812"
"00434884"	"05812"
"00434885"	"05812"
"00434886"	"05812"
"00434887"	"05812"
"00434888"	"05812"
"00434889"	"05812"
"00434890"	"05812"
"00434891"	"05812"
"00434940"	"05812"
"00434941"	"05812"
"00434942"	"05812"
"00434943"	"05812"
"00434944"	"05812"
"00434945"	"05812"
"00434946"	"05812"
"00434947"	"05812"
"00434948"	"05812"
"00434949"	"05812"
"00434950"	"05812"
"00434951"	"05812"
"00434952"	"05812"
"00434953"	"05812"
"00434954"	"05812"
"00434955"	"05812"
"00434956"	"05812"
"00434957"	"05812"
"00434958"	"05812"
"00434959"	"05812"
"00434960"	"05812"
"00434961"	"05812"
"00434962"	"05812"
"00434963"	"05812"
"00434964"	"05812"
"00434965"	"05812"
"00434966"	"05812"
"00434967"	"05812"
"00434968"	"05812"
"00434969"	"05812"
"00434970"	"05812"
"00434971"	"05812"
"00434972"	"05812"
"00434973"	"05812"
"00434974"	"05812"
"00434975"	"05812"
"00434976"	"05812"
"00434977"	"05812"
"00434978"	"05812"
"00434979"	"05812"
"00456255"	"00198"
"00456264"	"00198"
"00456269"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00344, 01975, 02087, 05356, 05487, 05812
## Count = 230
"{{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}}"
"0000053270"	"01975"	"00073121"	"01400"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000053271"	"01975"	"00073122"	"01400"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000105569"	"01975"	"00132806"	"00006"	"Familial, autosomal recessive"	"33y"	"see paper; ..., progressive impairment of fine movements, dysarthria; 28y-vertical gaze paralysis, severe dysarthria, dysphagia, ataxia, tremor, intellectual impairment; sister 25y-gait ataxia, 20y-dysarthria, 24y-vertical gaze paralysis"	"10y"	""	""	""	""	""	""	""	""	""	""
"0000129997"	"01975"	"00165102"	"02519"	"Isolated (sporadic)"	"25y"	"Prolonged neonatal jaundice (HP:0006579)\r\nSplenomegaly (HP:0001744)\r\nIntellectual disability, progressive (HP:0006887)\r\nClumsiness (HP:0002312)\r\nSpastic ataxia (HP:0002497) \r\nSlowed slurred speech (HP:0007164)\r\nSchizophrenia (HP:0100753)\r\nDysphagia (HP:0002015)\r\nFrequent falls (HP:0002359)\r\nVertical supranuclear gaze palsy (HP:0000511)\r\nChoreoathetosis (HP:0001266)\r\nLimb dystonia (HP:0002451)\r\nLimb myoclonus (HP:0045084)"	"11y"	"25y"	"Mental retardation"	""	""	""	""	""	"Niemann-Pick disease type C1"	"Intellectual disability"	""
"0000130050"	"01975"	"00165175"	"02519"	"Familial, autosomal recessive"	"28y"	"Splenomegaly (HP:0001744)\r\nAuditory hallucinations (HP:0008765)\r\nEnuresis nocturna (HP:0010677)\r\nSleep paralysis (HP:0025233)\r\nAbnormal eating behavior (HP:0100738)\r\nExcessive daytime sleepiness (HP:0002189)\r\nOromandibular dystonia (HP:0012048)\r\nMotor tics (HP:0100034)\r\nInvoluntary movements (HP:0004305)"	"?"	"28y"	"Dystonia"	""	""	""	""	""	"Niemann-Pick disease type C1"	"Orofacial/Oromandibular Dystonia"	""
"0000130052"	"01975"	"00165176"	"02519"	"Familial, autosomal recessive"	"35y"	"Schizophrenia (HP:0100753)\r\nSplenomegaly (HP:0001744)"	"22y"	"35y"	"Schizophrenia"	""	""	""	""	""	"Niemann-Pick disease type C1"	"Schizophrenia"	""
"0000143995"	"00344"	"00181150"	"02552"	"Isolated (sporadic)"	""	""	"04y03m"	""	""	""	""	""	""	""	""	""	""
"0000232073"	"01975"	"00306225"	"03695"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000232953"	"05356"	"00307148"	"00006"	"Familial, autosomal recessive"	"34y"	"pyramidal signs, abnormal sleep‐wake rhythm, vertical supranuclear gaze palsy, hepatosplenomegaly, elevated serum levels of cholesterol, uric acid and aminotransferases, mild cognitive decline; MRI brain generalized cortical and subcortical atrophy, cerebellar atrophy"	"06y"	""	""	""	""	""	""	""	""	"ataxia"	""
"0000233160"	"05812"	"00307446"	"00006"	"Familial, autosomal recessive"	"3d"	"characteristic phenotype (Neonatal jaundice and liver failure)"	""	""	""	""	""	""	""	""	""	"Niemann-Pick type C"	""
"0000238660"	"00198"	"00314902"	"00006"	"Familial, autosomal recessive"	"28y"	"Progressive ataxia, dysarthria, oculomotor apraxia, declining cognition."	"8m"	""	""	""	""	""	""	""	""	""	""
"0000269329"	"00198"	"00374118"	"00006"	"Familial, autosomal recessive"	"<0d"	"32w-fetus, ultrasound Hydrops, hepatic cirrhosis; autopsy Ascitis, hepatic fibrosis, splenomegaly; ascitis"	""	""	""	""	""	""	""	""	""	"multiple congenital abnormalities"	""
"0000269631"	"00198"	"00374421"	"00006"	"Familial, autosomal recessive"	""	"Difficulty in walking, slow response, ataxia, poor scholastic performance, extensor plantar reflex along with increased tone and reflex"	""	""	""	""	""	""	""	""	""	"ataxia"	""
"0000270006"	"00198"	"00374796"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"dystonia"	""
"0000322438"	"02087"	"00431870"	"01602"	"Unknown"	""	"SIDS"	""	""	""	""	""	""	""	""	""	""	""
"0000322452"	"02087"	"00431883"	"01602"	"Unknown"	""	"SIDS"	""	""	""	""	""	""	""	""	""	""	""
"0000322458"	"02087"	"00431889"	"01602"	"Unknown"	""	"SIDS"	""	""	""	""	""	""	""	""	""	""	""
"0000324662"	"05812"	"00434304"	"00006"	"Familial, autosomal recessive"	"2y6m"	"see paper; ..., visceral enlargement; cholestasis; neurological involvement; psychomotor retardation, vertical ophthalmoplegia, photophobia, rigidity lower extremities with varus deviation"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease"	""
"0000324663"	"05812"	"00434305"	"00006"	"Familial, autosomal recessive"	"2y6m"	"see paper; ..., visceral enlargement; no cholestasis; neurological involvement"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease"	""
"0000324664"	"05812"	"00434306"	"00006"	"Familial, autosomal recessive"	"45d"	"see paper; ..., visceral enlargement; cholestasis; no neurological involvement"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease"	""
"0000324665"	"05812"	"00434307"	"00006"	"Familial, autosomal recessive"	"1y10m"	"see paper; ..., visceral enlargement; no cholestasis; neurological involvement"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease"	""
"0000324666"	"05812"	"00434308"	"00006"	"Familial, autosomal recessive"	"2y6m"	"see paper; ..., visceral enlargement; cholestasis; neurological involvement"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease"	""
"0000324667"	"05812"	"00434309"	"00006"	"Familial, autosomal recessive"	"2m"	"see paper; ..., visceral enlargement; no cholestasis; no neurological involvement"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease"	""
"0000324668"	"05812"	"00434310"	"00006"	"Familial, autosomal recessive"	"2y6m"	"see paper; ..., visceral enlargement; no cholestasis; no neurological involvement"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease"	""
"0000324670"	"05812"	"00434313"	"00006"	"Familial, autosomal recessive"	"2y"	"hepatomegaly (HP:0002240); splenomegaly (HP:0001744); hypotonia (HP:0001252)"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, severe infantile"	""
"0000324671"	"05812"	"00434314"	"00006"	"Familial, autosomal recessive"	"3y"	"classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); spastic tetraparesis (HP:0001285)"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, severe infantile"	""
"0000324672"	"05812"	"00434315"	"00006"	"Familial, autosomal recessive"	"3y"	"classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); dysarthria (HP:0001260); dysphagia (HP:0002015); hypotonia (HP:0001252); ataxia (HP:0001251); epilepsy (HP:0001250)"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, severe infantile"	""
"0000324674"	"05812"	"00434317"	"00006"	"Familial, autosomal recessive"	"2m"	"jaundice (HP:0000952)"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, early infantile systemic, lethal form"	""
"0000324675"	"05812"	"00434318"	"00006"	"Familial, autosomal recessive"	"2y"	"classical phenotype; splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); spastic tetraparesis (HP:0001285)"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, severe infantile"	""
"0000324676"	"05812"	"00434319"	"00006"	"Familial, autosomal recessive"	"2m"	"classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); hypotonia (HP:0001252)"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, severe infantile"	""
"0000324677"	"05812"	"00434320"	"00006"	"Familial, autosomal recessive"	"2m"	"jaundice (HP:0000952)"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, early infantile systemic, lethal form"	""
"0000324678"	"05812"	"00434321"	"00006"	"Familial, autosomal recessive"	"2y"	"splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); ataxia (HP:0001251)"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, severe infantile"	""
"0000324679"	"05812"	"00434322"	"00006"	"Familial, autosomal recessive"	"2y"	"hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); ataxia (HP:0001251)"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, severe infantile"	""
"0000324680"	"05812"	"00434323"	"00006"	"Familial, autosomal recessive"	"3y"	"hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263)"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, severe infantile"	""
"0000324681"	"05812"	"00434324"	"00006"	"Familial, autosomal recessive"	"3m"	"hepatomegaly (HP:0002240); splenomegaly (HP:0001744); hypotonia (HP:0001252)"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, severe infantile"	""
"0000324682"	"05812"	"00434325"	"00006"	"Familial, autosomal recessive"	"1y"	"classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); hypotonia (HP:0001252)"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, severe infantile"	""
"0000324683"	"05812"	"00434326"	"00006"	"Familial, autosomal recessive"	"4m"	"jaundice (HP:0000952); hepatomegaly (HP:0002240)"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, early infantile systemic, lethal form"	""
"0000324684"	"05812"	"00434327"	"00006"	"Familial, autosomal recessive"	"12y"	"hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); dysarthria (HP:0001260); dysphagia (HP:0002015); hypotonia (HP:0001252); ataxia (HP:0001251); epilepsy (HP:0001250)"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, severe infantile"	""
"0000324687"	"05812"	"00434330"	"00006"	"Familial, autosomal recessive"	"5y"	"classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); dysarthria (HP:0001260); dysphagia (HP:0002015); ataxia (HP:0001251); epilepsy (HP:0001250)"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, late infantile"	""
"0000324688"	"05812"	"00434331"	"00006"	"Familial, autosomal recessive"	"10y"	"classical phenotype; splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); dysarthria (HP:0001260); dysphagia (HP:0002015); ataxia (HP:0001251); epilepsy (HP:0001250)"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, late infantile"	""
"0000324689"	"05812"	"00434332"	"00006"	"Familial, autosomal recessive"	"4y"	"hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); hypotonia (HP:0001252); spastic tetraparesis (HP:0001285)"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, late infantile"	""
"0000324690"	"05812"	"00434333"	"00006"	"Familial, autosomal recessive"	"5y"	"classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); spastic tetraparesis (HP:0001285)"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, late infantile"	""
"0000324691"	"05812"	"00434334"	"00006"	"Familial, autosomal recessive"	"4y"	"hepatomegaly (HP:0002240); splenomegaly (HP:0001744); dysarthria (HP:0001260); ataxia (HP:0001251); epilepsy (HP:0001250)"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, late infantile"	""
"0000324692"	"05812"	"00434335"	"00006"	"Familial, autosomal recessive"	"4y"	"intermediate phenotype; splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); hypotonia (HP:0001252); ataxia (HP:0001251); epilepsy (HP:0001250); psychotic symptoms (HP:0000725)"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, late infantile"	""
"0000324693"	"05812"	"00434336"	"00006"	"Familial, autosomal recessive"	"5y"	"classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); dysarthria (HP:0001260); dysphagia (HP:0002015)"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, late infantile"	""
"0000324694"	"05812"	"00434337"	"00006"	"Familial, autosomal recessive"	"5y"	"hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); spastic tetraparesis (HP:0001285)"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, late infantile"	""
"0000324695"	"05812"	"00434338"	"00006"	"Familial, autosomal recessive"	"9y"	"cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); dysarthria (HP:0001260); ataxia (HP:0001251); epilepsy (HP:0001250)"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, late infantile"	""
"0000324696"	"05812"	"00434339"	"00006"	"Familial, autosomal recessive"	"20y"	"classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); dysarthria (HP:0001260); dysphagia (HP:0002015); ataxia (HP:0001251); epilepsy (HP:0001250)"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, late infantile"	""
"0000324697"	"05812"	"00434340"	"00006"	"Familial, autosomal recessive"	"6y"	"classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); ataxia (HP:0001251); epilepsy (HP:0001250); psychotic symptoms (HP:0000725)"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, late infantile"	""
"0000324698"	"05812"	"00434341"	"00006"	"Familial, autosomal recessive"	"17y"	"hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); dysarthria (HP:0001260); dysphagia (HP:0002015); ataxia (HP:0001251); epilepsy (HP:0001250)"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, late infantile"	""
"0000324699"	"05812"	"00434342"	"00006"	"Familial, autosomal recessive"	"13y"	"classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); dysarthria (HP:0001260); dysphagia (HP:0002015); epilepsy (HP:0001250); cataplexy"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, late infantile"	""
"0000324700"	"05812"	"00434343"	"00006"	"Familial, autosomal recessive"	"15y"	"classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); dysarthria (HP:0001260); dysphagia (HP:0002015); hypotonia (HP:0001252); ataxia (HP:0001251); epilepsy (HP:0001250)"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, juvenile"	""
"0000324701"	"05812"	"00434344"	"00006"	"Familial, autosomal recessive"	"12y"	"classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744)"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, juvenile"	""
"0000324702"	"05812"	"00434345"	"00006"	"Familial, autosomal recessive"	"16y"	"classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); vertical gaze paralysis (HP:0000511); dysarthria (HP:0001260); dysphagia (HP:0002015); ataxia (HP:0001251); epilepsy (HP:0001250)"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, juvenile"	""
"0000324703"	"05812"	"00434346"	"00006"	"Familial, autosomal recessive"	"20y"	"classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); dysarthria (HP:0001260); dysphagia (HP:0002015); hypotonia (HP:0001252); ataxia (HP:0001251); psychotic symptoms (HP:0000725); cataplexy"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, juvenile"	""
"0000324704"	"05812"	"00434347"	"00006"	"Familial, autosomal recessive"	"15y"	"dysarthria (HP:0001260); ataxia (HP:0001251)"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, juvenile"	""
"0000324705"	"05812"	"00434348"	"00006"	"Familial, autosomal recessive"	"12y"	"dysarthria (HP:0001260); ataxia (HP:0001251)"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, juvenile"	""
"0000324706"	"05812"	"00434349"	"00006"	"Familial, autosomal recessive"	"36y"	"classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); ataxia (HP:0001251); psychotic symptoms (HP:0000725)"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, adult"	""
"0000324707"	"05812"	"00434350"	"00006"	"Familial, autosomal recessive"	"20y"	"classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); dysarthria (HP:0001260); hypotonia (HP:0001252); ataxia (HP:0001251); psychotic symptoms (HP:0000725)"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, adult"	""
"0000324708"	"05812"	"00434351"	"00006"	"Familial, autosomal recessive"	"40y"	"epilepsy (HP:0001250); psychotic symptoms (HP:0000725)"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, adult"	""
"0000324709"	"05812"	"00434352"	"00006"	"Familial, autosomal recessive"	"17y"	"cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); dysphagia (HP:0002015); psychotic symptoms (HP:0000725)"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, adult"	""
"0000324710"	"05812"	"00434353"	"00006"	"Familial, autosomal recessive"	"4m"	"classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744)"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease"	""
"0000324711"	"05812"	"00434354"	"00006"	"Familial, autosomal recessive"	"3y"	"splenomegaly (HP:0001744); 15m-substrate reduction therapy"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease"	""
"0000324712"	"05812"	"00434355"	"00006"	"Familial, autosomal recessive"	"2y"	"classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744)"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease"	""
"0000324713"	"05812"	"00434356"	"00006"	"Familial, autosomal recessive"	"4y"	"7m-substrate reduction therapy"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease"	""
"0000324723"	"05812"	"00434366"	"00006"	"Familial, autosomal recessive"	""	"see paper"	""	""	""	""	""	""	""	""	"NPC2"	"Niemann-Pick type C disease"	""
"0000324730"	"05812"	"00434374"	"00006"	"Familial, autosomal recessive"	"2y5m"	""	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, infantile"	""
"0000324731"	"05812"	"00434375"	"00006"	"Familial, autosomal recessive"	"4y4m"	""	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, infantile"	""
"0000324732"	"05812"	"00434376"	"00006"	"Familial, autosomal recessive"	"4y6m"	""	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, infantile"	""
"0000324733"	"05812"	"00434377"	"00006"	"Familial, autosomal recessive"	"6m"	""	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, infantile"	""
"0000324734"	"05812"	"00434378"	"00006"	"Familial, autosomal recessive"	"5y3m"	""	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, infantile"	""
"0000324735"	"05812"	"00434379"	"00006"	"Familial, autosomal recessive"	"5y9m"	""	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, late infantile"	""
"0000324736"	"05812"	"00434380"	"00006"	"Familial, autosomal recessive"	"6m"	""	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, late infantile"	""
"0000324737"	"05812"	"00434381"	"00006"	"Familial, autosomal recessive"	"9m"	""	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, late infantile"	""
"0000324738"	"05812"	"00434382"	"00006"	"Familial, autosomal recessive"	"8m"	""	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, late infantile"	""
"0000324739"	"05812"	"00434383"	"00006"	"Familial, autosomal recessive"	"8m"	""	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, late infantile"	""
"0000324740"	"05812"	"00434384"	"00006"	"Familial, autosomal recessive"	"11m"	""	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, late infantile"	""
"0000324741"	"05812"	"00434385"	"00006"	"Familial, autosomal recessive"	"6m"	""	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, juvenile"	""
"0000324742"	"05812"	"00434386"	"00006"	"Familial, autosomal recessive"	"16y6m"	""	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, juvenile"	""
"0000324743"	"05812"	"00434387"	"00006"	"Familial, autosomal recessive"	"27y"	""	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, juvenile"	""
"0000324744"	"05812"	"00434388"	"00006"	"Familial, autosomal recessive"	"9y"	""	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, juvenile"	""
"0000324745"	"05812"	"00434389"	"00006"	"Familial, autosomal recessive"	"15y"	""	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, juvenile"	""
"0000324746"	"05812"	"00434390"	"00006"	"Familial, autosomal recessive"	"14y"	""	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, juvenile"	""
"0000324747"	"05812"	"00434391"	"00006"	"Familial, autosomal recessive"	"14y"	""	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, juvenile"	""
"0000324748"	"05812"	"00434392"	"00006"	"Familial, autosomal recessive"	"12y"	""	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, juvenile"	""
"0000324749"	"05812"	"00434393"	"00006"	"Familial, autosomal recessive"	"25y"	""	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, juvenile"	""
"0000324750"	"05812"	"00434394"	"00006"	"Familial, autosomal recessive"	"19y"	""	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, juvenile"	""
"0000324751"	"05812"	"00434395"	"00006"	"Familial, autosomal recessive"	"15y"	""	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, juvenile"	""
"0000324752"	"05812"	"00434396"	"00006"	"Familial, autosomal recessive"	"22y"	""	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, juvenile"	""
"0000324753"	"05812"	"00434397"	"00006"	"Familial, autosomal recessive"	"15y"	""	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, juvenile"	""
"0000324754"	"05812"	"00434398"	"00006"	"Familial, autosomal recessive"	"18y"	""	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, juvenile"	""
"0000324755"	"05812"	"00434399"	"00006"	"Familial, autosomal recessive"	"29y"	""	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, adult"	""
"0000324756"	"05812"	"00434400"	"00006"	"Familial, autosomal recessive"	"37y"	""	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, adult"	""
"0000324757"	"05812"	"00434401"	"00006"	"Familial, autosomal recessive"	"44y"	""	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, adult"	""
"0000324758"	"05812"	"00434402"	"00006"	"Familial, autosomal recessive"	"25y"	""	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, adult"	""
"0000324759"	"05812"	"00434403"	"00006"	"Familial, autosomal recessive"	"21y"	""	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, adult"	""
"0000324760"	"05812"	"00434404"	"00006"	"Familial, autosomal recessive"	"3y7m"	""	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease"	""
"0000324761"	"05812"	"00434405"	"00006"	"Familial, autosomal recessive"	"3y7m"	""	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease"	""
"0000324762"	"05812"	"00434406"	"00006"	"Familial, autosomal recessive"	"5y3m"	""	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease"	""
"0000324776"	"05812"	"00434440"	"00006"	"Familial, autosomal recessive"	"53y"	"see paper"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease"	""
"0000324781"	"05812"	"00434446"	"00006"	"Familial, autosomal recessive"	"3y6m"	"jaundiced neonatal liver disease; splenomegaly; no seizures; no vertical gaze palsy; delayed development; no ataxia; no swallowing problems"	"1d"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, neonatal"	""
"0000324782"	"05812"	"00434447"	"00006"	"Familial, autosomal recessive"	"4y"	"jaundiced neonatal liver disease; hepatosplenomegaly; no seizures; no vertical gaze palsy; normal delayed development; no ataxia; no swallowing problems"	"1d"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, neonatal"	""
"0000324783"	"05812"	"00434448"	"00006"	"Familial, autosomal recessive"	"4y8m"	"jaundiced neonatal liver disease; hepatosplenomegaly; no seizures; no vertical gaze palsy; normal delayed development; no ataxia; no swallowing problems"	"1d"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, neonatal"	""
"0000324784"	"05812"	"00434449"	"00006"	"Familial, autosomal recessive"	"4y8m"	"no neonatal liver disease; splenomegaly; no seizures; no vertical gaze palsy; normal delayed development; no ataxia; no swallowing problems"	"1d"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, neonatal"	""
"0000324785"	"05812"	"00434450"	"00006"	"Familial, autosomal recessive"	"7y"	"jaundiced neonatal liver disease; hepatosplenomegaly/splenomegaly; no seizures; vertical gaze palsy; normal delayed development; no ataxia; no swallowing problems"	"1d"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, neonatal"	""
"0000324786"	"05812"	"00434451"	"00006"	"Familial, autosomal recessive"	"8y"	"jaundiced neonatal liver disease; hepatosplenomegaly; cataplexy, epilepsy; vertical gaze palsy; delayed development; severe ataxia; no swallowing problems"	"1d"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, neonatal"	""
"0000324787"	"05812"	"00434452"	"00006"	"Familial, autosomal recessive"	"7y"	"jaundiced neonatal liver disease; hepatosplenomegaly; cataplexy, epilepsy; vertical gaze palsy; delayed development; severe ataxia; no swallowing problems"	"1d"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, neonatal"	""
"0000324788"	"05812"	"00434453"	"00006"	"Familial, autosomal recessive"	"9y"	"jaundiced neonatal liver disease; hepatosplenomegaly; cataplexy, epilepsy; vertical gaze palsy; delayed development; ataxia; swallowing problems"	"1d"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, neonatal"	""
"0000324789"	"05812"	"00434454"	"00006"	"Familial, autosomal recessive"	"9y"	"jaundiced neonatal liver disease; seizures; vertical gaze palsy; ataxia"	"1d"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, neonatal"	""
"0000324790"	"05812"	"00434455"	"00006"	"Familial, autosomal recessive"	"9y"	"jaundiced neonatal liver disease; splenomegaly; cataplexy; vertical gaze palsy; delayed development"	"1d"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, neonatal"	""
"0000324791"	"05812"	"00434456"	"00006"	"Familial, autosomal recessive"	"28y"	"jaundiced neonatal liver disease; hepatosplenomegaly; epilepsy; vertical gaze palsy; ataxia"	"1d"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, neonatal"	""
"0000324792"	"05812"	"00434457"	"00006"	"Familial, autosomal recessive"	"19y"	"fetal ascites neonatal liver disease; 1d-hepatosplenomegaly/splenomegaly; epilepsy; vertical gaze palsy; ataxia; swallowing problems"	"1d"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, neonatal"	""
"0000324793"	"05812"	"00434458"	"00006"	"Familial, autosomal recessive"	"34y"	"jaundiced neonatal liver disease; 1d-hepatosplenomegaly/splenomegaly; no seizures; no vertical gaze palsy; normal delayed development; no ataxia; no swallowing problems"	"1d"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, neonatal"	""
"0000324794"	"05812"	"00434459"	"00006"	"Familial, autosomal recessive"	"22y"	"jaundiced neonatal liver disease; 1d-hepatosplenomegaly/splenomegaly; no seizures; vertical gaze palsy; ataxia; swallowing problems"	"1d"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, neonatal"	""
"0000324795"	"05812"	"00434460"	"00006"	"Familial, autosomal recessive"	"2y2m"	"jaundiced neonatal liver disease; hepatosplenomegaly; no seizures; no vertical gaze palsy; normal delayed development; no ataxia; no swallowing problems"	"1d"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, neonatal"	""
"0000324796"	"05812"	"00434461"	"00006"	"Familial, autosomal recessive"	"1y11m"	"jaundiced neonatal liver disease; hepatosplenomegaly; no seizures; no vertical gaze palsy; normal delayed development; no ataxia; no swallowing problems"	"1d"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, neonatal"	""
"0000324797"	"05812"	"00434462"	"00006"	"Familial, autosomal recessive"	"16y"	"jaundiced neonatal liver disease; hepatosplenomegaly/splenomegaly; seizures; vertical gaze palsy; ataxia; no swallowing problems"	"1d"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, neonatal"	""
"0000324798"	"05812"	"00434463"	"00006"	"Familial, autosomal recessive"	"19y"	"jaundiced neonatal liver disease; hepatosplenomegaly; cataplexy, epilepsy; vertical gaze palsy; ataxia; swallowing problems"	"1d"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, neonatal"	""
"0000324799"	"05812"	"00434464"	"00006"	"Familial, autosomal recessive"	"9y"	"jaundiced neonatal liver disease; hepatosplenomegaly; no seizures; vertical gaze palsy; ataxia; swallowing problems"	"1d"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, neonatal"	""
"0000324800"	"05812"	"00434465"	"00006"	"Familial, autosomal recessive"	"31y"	"jaundiced neonatal liver disease; hepatosplenomegaly; no seizures; vertical gaze palsy; no ataxia; no swallowing problems"	"1d"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, neonatal"	""
"0000324801"	"05812"	"00434466"	"00006"	"Familial, autosomal recessive"	"1y10m"	"jaundiced neonatal liver disease; hepatosplenomegaly; no seizures; no vertical gaze palsy; normal delayed development; no ataxia; no swallowing problems"	"1d"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, neonatal"	""
"0000324802"	"05812"	"00434467"	"00006"	"Familial, autosomal recessive"	"8y"	"jaundiced neonatal liver disease; cataplexy, epilepsy; vertical gaze palsy; ataxia"	"1d"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, neonatal"	""
"0000324803"	"05812"	"00434468"	"00006"	"Familial, autosomal recessive"	"32y"	"no neonatal liver disease; no hepatosplenomegaly, no splenomegaly; seizures; vertical gaze palsy; ataxia; swallowing problems"	"1d"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, neonatal"	""
"0000324804"	"05812"	"00434469"	"00006"	"Familial, autosomal recessive"	"8y"	"1d-jaundice; prolonged jaundice; hepatosplenomegaly; no seizures; vertical gaze palsy; ataxia; no swallowing problems"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, neonatal"	""
"0000324805"	"05812"	"00434470"	"00006"	"Familial, autosomal recessive"	"12y"	"prolonged jaundice liver disease; 1d-hepatosplenomegaly/splenomegaly; cataplexy, epilepsy; vertical gaze palsy; ataxia; swallowing problems"	"1d"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, neonatal"	""
"0000324806"	"05812"	"00434471"	"00006"	"Familial, autosomal recessive"	"9y"	"no neonatal liver disease; no hepatosplenomegaly, no splenomegaly; cataplexy; vertical gaze palsy; ataxia; 7y-mild swallowing problems"	"4y7m"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, childhood"	""
"0000324807"	"05812"	"00434472"	"00006"	"Familial, autosomal recessive"	"8y"	"no neonatal liver disease; hepatosplenomegaly; cataplexy; vertical gaze palsy; no swallowing problems"	"9m"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, childhood"	""
"0000324808"	"05812"	"00434473"	"00006"	"Familial, autosomal recessive"	"11y"	"no neonatal liver disease; no hepatosplenomegaly, no splenomegaly; epilepsy, cataplexy; vertical gaze palsy; ataxia; swallowing problems"	"3y5m"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, childhood"	""
"0000324809"	"05812"	"00434474"	"00006"	"Familial, autosomal recessive"	"14y"	"no neonatal liver disease; splenomegaly; no seizures; vertical gaze palsy; ataxia; no swallowing problems"	"5y"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, childhood"	""
"0000324810"	"05812"	"00434475"	"00006"	"Familial, autosomal recessive"	"14y"	"no neonatal liver disease; hepatosplenomegaly/splenomegaly; cataplexy, epilepsy; vertical gaze palsy; ataxia; swallowing problems"	"4y"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, childhood"	""
"0000324811"	"05812"	"00434476"	"00006"	"Familial, autosomal recessive"	"16y"	"no neonatal liver disease; 1d-hepatosplenomegaly/splenomegaly; cataplexy, epilepsy; vertical gaze palsy; ataxia; swallowing problems"	"4y5m"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, childhood"	""
"0000324812"	"05812"	"00434477"	"00006"	"Familial, autosomal recessive"	"19y"	"no neonatal liver disease; no hepatosplenomegaly, no splenomegaly; cataplexy; vertical gaze palsy; ataxia; swallowing problems"	"7y"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, childhood"	""
"0000324813"	"05812"	"00434478"	"00006"	"Familial, autosomal recessive"	"6y5m"	"no neonatal liver disease; no hepatosplenomegaly, no splenomegaly; cataplexy, epilepsy; vertical gaze palsy; ataxia; swallowing problems"	">1y5m"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, childhood"	""
"0000324814"	"05812"	"00434479"	"00006"	"Familial, autosomal recessive"	"13y"	"no neonatal liver disease; hepatosplenomegaly/splenomegaly; vertical gaze palsy; ataxia; swallowing problems"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, childhood"	""
"0000324815"	"05812"	"00434480"	"00006"	"Familial, autosomal recessive"	"9y"	"prolonged jaundice neonatal liver disease; hepatosplenomegaly; cataplexy; vertical gaze palsy; ataxia; swallowing problems"	"2y"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, childhood"	""
"0000324816"	"05812"	"00434481"	"00006"	"Familial, autosomal recessive"	"9y"	"prolonged jaundice; hepatosplenomegaly/splenomegaly; cataplexy, epilepsy; vertical gaze palsy; ataxia; swallowing problems"	"5y"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, childhood"	""
"0000324817"	"05812"	"00434482"	"00006"	"Familial, autosomal recessive"	"33y"	"no neonatal liver disease; splenomegaly; no seizures; no vertical gaze palsy; no ataxia; no swallowing problems"	"6y"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, childhood"	""
"0000324818"	"05812"	"00434483"	"00006"	"Familial, autosomal recessive"	"21y"	"no neonatal liver disease; hepatosplenomegaly/splenomegaly; seizures; vertical gaze palsy; 11y-psychiatric disturbance; ataxia; swallowing problems"	"2y"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, childhood"	""
"0000324819"	"05812"	"00434484"	"00006"	"Familial, autosomal recessive"	"21y"	"no neonatal liver disease; splenomegaly; seizures; vertical gaze palsy; swallowing problems"	"5y"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, childhood"	""
"0000324820"	"05812"	"00434485"	"00006"	"Familial, autosomal recessive"	"7y"	"no neonatal liver disease; no hepatosplenomegaly, no splenomegaly; cataplexy, epilepsy; ataxia; swallowing problems"	"<2y"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, childhood"	""
"0000324821"	"05812"	"00434486"	"00006"	"Familial, autosomal recessive"	"3y"	"no neonatal liver disease; splenomegaly; no seizures; no vertical gaze palsy; no ataxia; no swallowing problems"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, childhood"	""
"0000324822"	"05812"	"00434487"	"00006"	"Familial, autosomal recessive"	"10y"	"no neonatal liver disease; no hepatosplenomegaly, no splenomegaly; cataplexy; vertical gaze palsy; ataxia; swallowing problems"	"5y"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, childhood"	""
"0000324823"	"05812"	"00434488"	"00006"	"Familial, autosomal recessive"	"5y"	"hepatosplenomegaly; seizures; ataxia; swallowing problems"	"2y"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, childhood"	""
"0000324824"	"05812"	"00434489"	"00006"	"Familial, autosomal recessive"	"18y"	"no neonatal liver disease; splenomegaly; epilepsy; vertical gaze palsy; ataxia; swallowing problems"	"8y"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, adult"	""
"0000324825"	"05812"	"00434490"	"00006"	"Familial, autosomal recessive"	"15y"	"no neonatal liver disease; no hepatosplenomegaly, no splenomegaly; no seizures; no vertical gaze palsy; ataxia; swallowing problems"	"10y"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, adult"	""
"0000324826"	"05812"	"00434491"	"00006"	"Familial, autosomal recessive"	"17y"	"no neonatal liver disease; splenomegaly; no seizures; vertical gaze palsy; no ataxia; no swallowing problems; no psychiatric disturbance"	"12y"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, adult"	""
"0000324827"	"05812"	"00434492"	"00006"	"Familial, autosomal recessive"	"21y"	"no neonatal liver disease; splenomegaly; no seizures; vertical gaze palsy; ataxia; swallowing problems; psychiatric disturbance"	"18y"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, adult"	""
"0000324828"	"05812"	"00434493"	"00006"	"Familial, autosomal recessive"	"19y"	"prolonged jaundice; 1d-hepatosplenomegaly/splenomegaly; no seizures; no vertical gaze palsy; no ataxia; no swallowing problems; no psychiatric disturbance"	"16y"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, adult"	""
"0000324829"	"05812"	"00434494"	"00006"	"Familial, autosomal recessive"	"28y"	"no neonatal liver disease; no hepatosplenomegaly, no splenomegaly; epilepsy; vertical gaze palsy; ataxia; swallowing problems; psychiatric disturbance"	"14y"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, adult"	""
"0000324830"	"05812"	"00434495"	"00006"	"Familial, autosomal recessive"	"21y"	"no neonatal liver disease; no hepatosplenomegaly, no splenomegaly; epilepsy; vertical gaze palsy; ataxia; swallowing problems; no psychiatric disturbance"	"14y"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, adult"	""
"0000324831"	"05812"	"00434496"	"00006"	"Familial, autosomal recessive"	"22y"	"prolonged jaundice; 1d-hepatosplenomegaly/splenomegaly; seizures; vertical gaze palsy; ataxia; swallowing problems; no psychiatric disturbance"	"15y"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, adult"	""
"0000324832"	"05812"	"00434497"	"00006"	"Familial, autosomal recessive"	"22y"	"prolonged jaundice; no hepatosplenomegaly, no splenomegaly; no seizures; vertical gaze palsy; ataxia; swallowing problems; no psychiatric disturbance"	"16y"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, adult"	""
"0000324833"	"05812"	"00434498"	"00006"	"Familial, autosomal recessive"	"29y"	"prolonged jaundice; no hepatosplenomegaly, no splenomegaly; no seizures; vertical gaze palsy; ataxia; swallowing problems; no psychiatric disturbance"	"23y"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, adult"	""
"0000324834"	"05812"	"00434499"	"00006"	"Familial, autosomal recessive"	"30y"	"no neonatal liver disease; no hepatosplenomegaly, no splenomegaly; seizures; vertical gaze palsy; ataxia; swallowing problems; psychiatric disturbance"	"18y"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, adult"	""
"0000324835"	"05812"	"00434500"	"00006"	"Familial, autosomal recessive"	"28y"	"no neonatal liver disease; splenomegaly; no seizures; vertical gaze palsy; ataxia; swallowing problems; psychiatric disturbance"	"18y"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, adult"	""
"0000324836"	"05812"	"00434501"	"00006"	"Familial, autosomal recessive"	"40y"	"prolonged jaundice; no hepatosplenomegaly, no splenomegaly; seizures; vertical gaze palsy; ataxia; swallowing problems; psychiatric disturbance"	"18y"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, adult"	""
"0000324837"	"05812"	"00434502"	"00006"	"Familial, autosomal recessive"	"23y"	"no neonatal liver disease; no hepatosplenomegaly, no splenomegaly; no vertical gaze palsy; swallowing problems; psychiatric disturbance"	"11y-20y"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, adult"	""
"0000324838"	"05812"	"00434503"	"00006"	"Familial, autosomal recessive"	""	"see paper"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, adult"	""
"0000324839"	"05812"	"00434504"	"00006"	"Familial, autosomal recessive"	""	"see paper"	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease, adult"	""
"0000324840"	"05812"	"00434505"	"00006"	"Familial, X-linked recessive"	""	"see paper"	""	""	""	""	""	""	""	""	"OA1"	"Niemann-Pick type C disease, adult"	""
"0000324841"	"05812"	"00434506"	"00006"	"Familial, X-linked recessive"	""	"see paper"	""	""	""	""	""	""	""	""	"OA1"	"Niemann-Pick type C disease, adult"	""
"0000324842"	"05812"	"00434507"	"00006"	"Familial, X-linked recessive"	""	"see paper"	""	""	""	""	""	""	""	""	"OA1"	"Niemann-Pick type C disease, adult"	""
"0000324843"	"05812"	"00434508"	"00006"	"Familial, X-linked recessive"	""	"see paper"	""	""	""	""	""	""	""	""	"OA1"	"Niemann-Pick type C disease, adult"	""
"0000324844"	"05812"	"00434509"	"00006"	"Familial, autosomal recessive"	""	"see paper"	""	""	""	""	""	""	""	""	"OCA2"	"Niemann-Pick type C disease, adult"	""
"0000324845"	"05812"	"00434510"	"00006"	"Familial, autosomal recessive"	""	"see paper"	""	""	""	""	""	""	""	""	"OCA2"	"Niemann-Pick type C disease, adult"	""
"0000324846"	"05812"	"00434511"	"00006"	"Familial, autosomal recessive"	"11y"	"jaundiced neonatal liver disease; epilepsy; vertical gaze palsy; ataxia; swallowing problems"	"1d"	""	""	""	""	""	""	""	"OCA2"	"Niemann-Pick type C disease, neonatal"	""
"0000324847"	"05812"	"00434512"	"00006"	"Familial, autosomal recessive"	"28d"	"severe neonatal liver disease; hepatosplenomegaly/splenomegaly"	"1d"	""	""	""	""	""	""	""	"OCA2"	"Niemann-Pick type C disease, neonatal"	""
"0000324848"	"05812"	"00434513"	"00006"	"Familial, autosomal recessive"	"56d"	"severe neonatal liver disease; hepatosplenomegaly/splenomegaly"	"1d"	""	""	""	""	""	""	""	"OCA2"	"Niemann-Pick type C disease, neonatal"	""
"0000324849"	"05812"	"00434514"	"00006"	"Familial, autosomal recessive"	"16y"	"prolonged jaundice; no hepatosplenomegaly, no splenomegaly; seizures; vertical gaze palsy; ataxia; swallowing problems"	"5y"	""	""	""	""	""	""	""	"OCA2"	"Niemann-Pick type C disease, childhood"	""
"0000324850"	"05812"	"00434515"	"00006"	"Familial, autosomal recessive"	""	"see paper"	""	""	""	""	""	""	""	""	"OCA6"	"Niemann-Pick type C disease, adult"	""
"0000324851"	"05812"	"00434516"	"00006"	"Familial, autosomal recessive"	"13y"	"see paper"	"06y"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease"	""
"0000324852"	"05812"	"00434517"	"00006"	"Familial, autosomal recessive"	"40y"	"see paper"	"17y"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease"	""
"0000324853"	"05812"	"00434518"	"00006"	"Familial, autosomal recessive"	"25y"	"see paper"	"11y"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease"	""
"0000324854"	"05812"	"00434519"	"00006"	"Familial, autosomal recessive"	"24y"	"see paper"	"11y"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease"	""
"0000324855"	"05812"	"00434520"	"00006"	"Familial, autosomal recessive"	"21y"	"see paper"	"12y"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C disease"	""
"0000325119"	"05812"	"00434880"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick disease"	""
"0000325120"	"05812"	"00434881"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick disease"	""
"0000325121"	"05812"	"00434882"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick disease"	""
"0000325122"	"05812"	"00434883"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick disease"	""
"0000325123"	"05812"	"00434884"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick disease"	""
"0000325124"	"05812"	"00434885"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick disease"	""
"0000325125"	"05812"	"00434886"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick disease"	""
"0000325126"	"05812"	"00434887"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick disease"	""
"0000325127"	"05812"	"00434888"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick disease"	""
"0000325128"	"05812"	"00434889"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick disease"	""
"0000325129"	"05812"	"00434890"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick disease"	""
"0000325130"	"05812"	"00434891"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick disease"	""
"0000325187"	"05812"	"00434940"	"00006"	"Familial, autosomal recessive"	""	"hepatosplenomegaly"	"19m"	"10m"	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C, severe infantile"	""
"0000325188"	"05812"	"00434941"	"00006"	"Familial, autosomal recessive"	""	"hepatosplenomegaly, jaundice"	"1m"	"3m"	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C"	""
"0000325189"	"05812"	"00434942"	"00006"	"Familial, autosomal recessive"	""	"hepatosplenomegaly, hypotonia, failure to thrive"	"1m"	"3m"	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C, late infantile"	""
"0000325190"	"05812"	"00434943"	"00006"	"Familial, autosomal recessive"	""	"hepatosplenomegaly, hypotonia, failure to thrive"	"1m"	"6m"	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C, severe infantile"	""
"0000325191"	"05812"	"00434944"	"00006"	"Familial, autosomal recessive"	""	"ataxia, progressive learning disability"	"8y"	"12y"	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C, juvenile"	""
"0000325192"	"05812"	"00434945"	"00006"	"Familial, autosomal recessive"	""	"hepatosplenomegaly (seizures at 10 years)"	"2m"	"11y"	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C, juvenile"	""
"0000325193"	"05812"	"00434946"	"00006"	"Familial, autosomal recessive"	""	"hepatosplenomegaly, jaundice"	"1m"	"5m"	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C, severe infantile"	""
"0000325194"	"05812"	"00434947"	"00006"	"Familial, autosomal recessive"	""	"hepatosplenomegaly"	"5m"	"2y"	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C, late infantile"	""
"0000325195"	"05812"	"00434948"	"00006"	"Familial, autosomal recessive"	""	"hepatosplenomegaly"	"1d"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C, severe infantile"	""
"0000325196"	"05812"	"00434949"	"00006"	"Familial, autosomal recessive"	""	"hepatosplenomegaly, hypotonia, psychomotor retardation"	"1y"	"2y"	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C, severe infantile"	""
"0000325197"	"05812"	"00434950"	"00006"	"Familial, autosomal recessive"	""	"hepatosplenomegaly, psychomotor retardation"	"2y"	"5y"	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C, late infantile"	""
"0000325198"	"05812"	"00434951"	"00006"	"Familial, autosomal recessive"	""	"crebellum syndrome, supranuclear paralysis, learning disabilty"	"12y"	"23y"	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C, juvenile"	""
"0000325199"	"05812"	"00434952"	"00006"	"Familial, autosomal recessive"	""	"hepatosplenomegaly, jaundice, failure to thrive"	"1d"	"7m"	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C, severe infantile"	""
"0000325200"	"05812"	"00434953"	"00006"	"Familial, autosomal recessive"	""	"hepatosplenomegaly, hypotonia"	"1d"	"5y"	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C, late infantile"	""
"0000325201"	"05812"	"00434954"	"00006"	"Familial, autosomal recessive"	""	"gait inestability, dysarthria"	""	"36y"	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C, adult"	""
"0000325202"	"05812"	"00434955"	"00006"	"Familial, autosomal recessive"	""	"hepatosplenomegaly"	"3m"	"16m"	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C, severe infantile"	""
"0000325203"	"05812"	"00434956"	"00006"	"Familial, autosomal recessive"	""	"hepatosplenomegaly, hypotonia"	"1d"	"8y"	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C, severe infantile"	""
"0000325204"	"05812"	"00434957"	"00006"	"Familial, autosomal recessive"	""	"hepatosplenomegaly"	"1d"	"5y"	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C, late infantile"	""
"0000325205"	"05812"	"00434958"	"00006"	"Familial, autosomal recessive"	""	"hepatosplenomegaly"	"3m"	"18m"	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C, late infantile"	""
"0000325206"	"05812"	"00434959"	"00006"	"Familial, autosomal recessive"	""	"vertical supranuclear ophthalmoplegia, clumsiness, dysarthria"	"4y"	""	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C, late infantile"	""
"0000325207"	"05812"	"00434960"	"00006"	"Familial, autosomal recessive"	""	""	"1m"	"5y"	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C, late infantile"	""
"0000325208"	"05812"	"00434961"	"00006"	"Familial, autosomal recessive"	""	"bradypsichia, ophthalmoplegia, clumsiness"	"8y"	"16y"	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C, juvenile"	""
"0000325209"	"05812"	"00434962"	"00006"	"Familial, autosomal recessive"	""	"hepatosplenomegaly, irritability"	"17m"	"17m"	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C, juvenile"	""
"0000325210"	"05812"	"00434963"	"00006"	"Familial, autosomal recessive"	""	"motor impairment, spastic tetraparesis"	"1y"	"3y"	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C, severe infantile"	""
"0000325211"	"05812"	"00434964"	"00006"	"Familial, autosomal recessive"	""	"learning disability, behaviour problems"	"6y"	"13y"	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C, juvenile"	""
"0000325212"	"05812"	"00434965"	"00006"	"Familial, autosomal recessive"	""	""	""	"8y"	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C, juvenile"	""
"0000325213"	"05812"	"00434966"	"00006"	"Familial, autosomal recessive"	""	"hepatosplenomegaly, jaundice"	"1d"	"2y"	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C, severe infantile"	""
"0000325214"	"05812"	"00434967"	"00006"	"Familial, autosomal recessive"	""	"generalized seizures"	"9y"	"11y"	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C, juvenile"	""
"0000325215"	"05812"	"00434968"	"00006"	"Familial, autosomal recessive"	""	"hepatosplenomegaly, progressive learning disability"	"5y"	"13y"	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C, juvenile"	""
"0000325216"	"05812"	"00434969"	"00006"	"Familial, autosomal recessive"	""	"hepatosplenomegaly, jaundice, hypotonia, psychomotor retardation"	"1d"	"1d"	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C, perinatal"	""
"0000325217"	"05812"	"00434970"	"00006"	"Familial, autosomal recessive"	""	"hepatosplenomegaly, ophthalmoplegia, ataxia, dystonia, psychomotor retardation"	"7y"	"10y"	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C, juvenile"	""
"0000325218"	"05812"	"00434971"	"00006"	"Familial, autosomal recessive"	""	""	""	"28y"	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C, adult"	""
"0000325219"	"05812"	"00434972"	"00006"	"Familial, autosomal recessive"	""	""	""	"32y"	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C, adult"	""
"0000325220"	"05812"	"00434973"	"00006"	"Familial, autosomal recessive"	""	""	""	"14y"	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C"	""
"0000325221"	"05812"	"00434974"	"00006"	"Familial, autosomal recessive"	""	"hepatosplenomegaly, jaundice, hypotonia, psychomotor retardation"	"1d"	"1y"	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C, perinatal"	""
"0000325222"	"05812"	"00434975"	"00006"	"Familial, autosomal recessive"	""	"hepatosplenomegaly, ophthalmoplegia, ataxia, mental retardation"	"6y"	"10y"	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C, juvenile"	""
"0000325223"	"05812"	"00434976"	"00006"	"Familial, autosomal recessive"	""	"clumsiness"	"20y"	"32y"	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C, adult"	""
"0000325224"	"05812"	"00434977"	"00006"	"Familial, autosomal recessive"	""	"hepatosplenomegaly"	"2y"	"6y"	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C, late infantile"	""
"0000325225"	"05812"	"00434978"	"00006"	"Familial, autosomal recessive"	""	"hepatosplenomegaly, hepatic failure"	"1d"	"1d"	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C, perinatal"	""
"0000325226"	"05812"	"00434979"	"00006"	"Familial, autosomal recessive"	""	"hepatosplenomegaly, nistagmus"	"8m"	"1y3m"	""	""	""	""	""	""	"NPC1"	"Niemann-Pick type C, severe infantile"	""
"0000344774"	"00198"	"00456255"	"00006"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"lysosomal storage disorder"	""
"0000344783"	"00198"	"00456264"	"00006"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"lysosomal storage disorder"	""
"0000344788"	"00198"	"00456269"	"00006"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"lysosomal storage disorder"	""


## Screenings ## Do not remove or alter this header ##
## Count = 322
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000000027"	"00000027"	"1"	"00004"	""	"2012-05-11 13:18:42"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000047"	"00000047"	"1"	"00004"	""	"2012-05-11 13:18:48"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000071"	"00000071"	"1"	"00004"	""	"2012-05-11 13:18:58"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000073279"	"00073121"	"1"	"01400"	"01400"	"2016-06-07 16:37:41"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000073280"	"00073122"	"1"	"01400"	"01400"	"2016-06-07 16:49:04"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000133640"	"00132806"	"1"	"00006"	"00006"	"2017-11-09 18:16:00"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000149426"	"00148570"	"1"	"01741"	"01741"	"2018-01-08 14:11:50"	""	""	"PCR"	"DNA"	""	""
"0000165991"	"00165102"	"1"	"02519"	"02519"	"2018-06-27 08:28:03"	"02519"	"2018-06-30 06:59:14"	"SEQ"	"DNA"	"Blood"	""
"0000166051"	"00165175"	"1"	"02519"	"02519"	"2018-06-29 08:58:10"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000166052"	"00165176"	"1"	"02519"	"02519"	"2018-06-29 09:11:22"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000182108"	"00181150"	"1"	"02552"	"02552"	"2018-10-02 11:43:41"	"00006"	"2018-10-23 21:12:13"	"RT-PCR;SEQ-NG-I"	"DNA;RNA"	"blood"	"WES"
"0000209660"	"00208611"	"1"	"03131"	"03131"	"2018-12-12 10:02:43"	""	""	"SEQ-NG-I"	"DNA"	"Blood"	""
"0000293087"	"00291919"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293088"	"00291920"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293089"	"00291921"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293090"	"00291922"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293091"	"00291923"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000307358"	"00306225"	"1"	"03695"	"03695"	"2020-07-11 10:33:07"	""	""	"SEQ-NG"	"DNA"	""	""
"0000308290"	"00307148"	"1"	"00006"	"00006"	"2020-08-05 09:27:35"	""	""	"SEQ"	"DNA"	""	""
"0000308585"	"00307446"	"1"	"00006"	"00006"	"2020-08-13 16:04:48"	""	""	"SEQ"	"DNA"	""	""
"0000316076"	"00314902"	"1"	"00006"	"00006"	"2020-10-20 15:09:17"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"trio WES"
"0000362700"	"00361472"	"1"	"01741"	"01741"	"2021-04-07 09:42:16"	""	""	"SEQ"	"DNA"	""	""
"0000375311"	"00374118"	"1"	"00006"	"00006"	"2021-05-23 14:33:57"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000375615"	"00374421"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000375990"	"00374796"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000433309"	"00431870"	"1"	"01602"	"01602"	"2023-02-17 14:18:15"	""	""	"SEQ-NG"	"DNA"	""	""
"0000433323"	"00431883"	"1"	"01602"	"01602"	"2023-02-17 15:28:59"	""	""	"SEQ-NG"	"DNA"	""	""
"0000433329"	"00431889"	"1"	"01602"	"01602"	"2023-02-17 15:43:40"	""	""	"SEQ-NG"	"DNA"	""	""
"0000435772"	"00434304"	"1"	"00006"	"00006"	"2023-03-23 11:09:30"	""	""	"SEQ;MLPA"	"DNA"	""	""
"0000435773"	"00434305"	"1"	"00006"	"00006"	"2023-03-23 11:09:30"	""	""	"SEQ"	"DNA"	""	""
"0000435774"	"00434306"	"1"	"00006"	"00006"	"2023-03-23 11:09:30"	""	""	"SEQ;MLPA"	"DNA"	""	""
"0000435775"	"00434307"	"1"	"00006"	"00006"	"2023-03-23 11:09:30"	""	""	"SEQ"	"DNA"	""	""
"0000435776"	"00434308"	"1"	"00006"	"00006"	"2023-03-23 11:09:30"	""	""	"SEQ"	"DNA"	""	""
"0000435777"	"00434309"	"1"	"00006"	"00006"	"2023-03-23 11:09:30"	""	""	"SEQ"	"DNA"	""	""
"0000435778"	"00434310"	"1"	"00006"	"00006"	"2023-03-23 11:09:30"	""	""	"SEQ"	"DNA"	""	""
"0000435779"	"00434311"	"1"	"00006"	"00006"	"2023-03-23 11:09:30"	""	""	"SEQ"	"DNA"	""	""
"0000435781"	"00434313"	"1"	"00006"	"00006"	"2023-03-23 15:25:57"	""	""	"SEQ"	"DNA"	""	""
"0000435782"	"00434314"	"1"	"00006"	"00006"	"2023-03-23 15:25:57"	""	""	"SEQ"	"DNA"	""	""
"0000435783"	"00434315"	"1"	"00006"	"00006"	"2023-03-23 15:25:57"	""	""	"SEQ"	"DNA"	""	""
"0000435785"	"00434317"	"1"	"00006"	"00006"	"2023-03-23 15:25:57"	""	""	"SEQ"	"DNA"	""	""
"0000435786"	"00434318"	"1"	"00006"	"00006"	"2023-03-23 15:25:57"	""	""	"SEQ"	"DNA"	""	""
"0000435787"	"00434319"	"1"	"00006"	"00006"	"2023-03-23 15:25:57"	""	""	"SEQ"	"DNA"	""	""
"0000435788"	"00434320"	"1"	"00006"	"00006"	"2023-03-23 15:25:57"	""	""	"SEQ"	"DNA"	""	""
"0000435789"	"00434321"	"1"	"00006"	"00006"	"2023-03-23 15:25:57"	""	""	"SEQ"	"DNA"	""	""
"0000435790"	"00434322"	"1"	"00006"	"00006"	"2023-03-23 15:25:57"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000435791"	"00434323"	"1"	"00006"	"00006"	"2023-03-23 15:25:57"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000435792"	"00434324"	"1"	"00006"	"00006"	"2023-03-23 15:25:57"	""	""	"SEQ"	"DNA"	""	""
"0000435793"	"00434325"	"1"	"00006"	"00006"	"2023-03-23 15:25:57"	""	""	"SEQ"	"DNA"	""	""
"0000435794"	"00434326"	"1"	"00006"	"00006"	"2023-03-23 15:25:57"	""	""	"SEQ"	"DNA"	""	""
"0000435795"	"00434327"	"1"	"00006"	"00006"	"2023-03-23 15:25:57"	""	""	"SEQ"	"DNA"	""	""
"0000435798"	"00434330"	"1"	"00006"	"00006"	"2023-03-23 15:25:57"	""	""	"SEQ"	"DNA"	""	""
"0000435799"	"00434331"	"1"	"00006"	"00006"	"2023-03-23 15:25:57"	""	""	"SEQ"	"DNA"	""	""
"0000435800"	"00434332"	"1"	"00006"	"00006"	"2023-03-23 15:25:57"	""	""	"SEQ"	"DNA"	""	""
"0000435801"	"00434333"	"1"	"00006"	"00006"	"2023-03-23 15:25:57"	""	""	"SEQ"	"DNA"	""	""
"0000435802"	"00434334"	"1"	"00006"	"00006"	"2023-03-23 15:25:57"	""	""	"SEQ"	"DNA"	""	""
"0000435803"	"00434335"	"1"	"00006"	"00006"	"2023-03-23 15:25:57"	""	""	"SEQ"	"DNA"	""	""
"0000435804"	"00434336"	"1"	"00006"	"00006"	"2023-03-23 15:25:57"	""	""	"SEQ"	"DNA"	""	""
"0000435805"	"00434337"	"1"	"00006"	"00006"	"2023-03-23 15:25:57"	""	""	"SEQ"	"DNA"	""	""
"0000435806"	"00434338"	"1"	"00006"	"00006"	"2023-03-23 15:25:57"	""	""	"SEQ"	"DNA"	""	""
"0000435807"	"00434339"	"1"	"00006"	"00006"	"2023-03-23 15:25:57"	""	""	"SEQ"	"DNA"	""	""
"0000435808"	"00434340"	"1"	"00006"	"00006"	"2023-03-23 15:25:57"	""	""	"SEQ"	"DNA"	""	""
"0000435809"	"00434341"	"1"	"00006"	"00006"	"2023-03-23 15:25:57"	""	""	"SEQ"	"DNA"	""	""
"0000435810"	"00434342"	"1"	"00006"	"00006"	"2023-03-23 15:25:57"	""	""	"SEQ"	"DNA"	""	""
"0000435811"	"00434343"	"1"	"00006"	"00006"	"2023-03-23 15:25:57"	""	""	"SEQ"	"DNA"	""	""
"0000435812"	"00434344"	"1"	"00006"	"00006"	"2023-03-23 15:25:57"	""	""	"SEQ"	"DNA"	""	""
"0000435813"	"00434345"	"1"	"00006"	"00006"	"2023-03-23 15:25:57"	""	""	"SEQ"	"DNA"	""	""
"0000435814"	"00434346"	"1"	"00006"	"00006"	"2023-03-23 15:25:57"	""	""	"SEQ"	"DNA"	""	""
"0000435815"	"00434347"	"1"	"00006"	"00006"	"2023-03-23 15:25:57"	""	""	"SEQ"	"DNA"	""	""
"0000435816"	"00434348"	"1"	"00006"	"00006"	"2023-03-23 15:25:57"	""	""	"SEQ"	"DNA"	""	""
"0000435817"	"00434349"	"1"	"00006"	"00006"	"2023-03-23 15:25:57"	""	""	"SEQ"	"DNA"	""	""
"0000435818"	"00434350"	"1"	"00006"	"00006"	"2023-03-23 15:25:57"	""	""	"SEQ"	"DNA"	""	""
"0000435819"	"00434351"	"1"	"00006"	"00006"	"2023-03-23 15:25:57"	""	""	"SEQ"	"DNA"	""	""
"0000435820"	"00434352"	"1"	"00006"	"00006"	"2023-03-23 15:25:57"	""	""	"SEQ"	"DNA"	""	""
"0000435821"	"00434353"	"1"	"00006"	"00006"	"2023-03-23 15:25:57"	""	""	"SEQ"	"DNA"	""	""
"0000435822"	"00434354"	"1"	"00006"	"00006"	"2023-03-23 15:25:57"	""	""	"SEQ"	"DNA"	""	""
"0000435823"	"00434355"	"1"	"00006"	"00006"	"2023-03-23 15:25:57"	""	""	"SEQ"	"DNA"	""	""
"0000435824"	"00434356"	"1"	"00006"	"00006"	"2023-03-23 15:25:57"	""	""	"SEQ"	"DNA"	""	""
"0000435834"	"00434366"	"1"	"00006"	"00006"	"2023-03-23 19:13:53"	"00006"	"2023-03-23 19:23:57"	"SEQ"	"DNA"	""	""
"0000435842"	"00434374"	"1"	"00006"	"00006"	"2023-03-24 10:31:23"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000435843"	"00434375"	"1"	"00006"	"00006"	"2023-03-24 10:31:23"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000435844"	"00434376"	"1"	"00006"	"00006"	"2023-03-24 10:31:23"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000435845"	"00434377"	"1"	"00006"	"00006"	"2023-03-24 10:31:23"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000435846"	"00434378"	"1"	"00006"	"00006"	"2023-03-24 10:31:23"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000435847"	"00434379"	"1"	"00006"	"00006"	"2023-03-24 10:31:23"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000435848"	"00434380"	"1"	"00006"	"00006"	"2023-03-24 10:31:23"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000435849"	"00434381"	"1"	"00006"	"00006"	"2023-03-24 10:31:23"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000435850"	"00434382"	"1"	"00006"	"00006"	"2023-03-24 10:31:23"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000435851"	"00434383"	"1"	"00006"	"00006"	"2023-03-24 10:31:23"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000435852"	"00434384"	"1"	"00006"	"00006"	"2023-03-24 10:31:23"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000435853"	"00434385"	"1"	"00006"	"00006"	"2023-03-24 10:31:23"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000435854"	"00434386"	"1"	"00006"	"00006"	"2023-03-24 10:31:23"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000435855"	"00434387"	"1"	"00006"	"00006"	"2023-03-24 10:31:23"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000435856"	"00434388"	"1"	"00006"	"00006"	"2023-03-24 10:31:23"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000435857"	"00434389"	"1"	"00006"	"00006"	"2023-03-24 10:31:23"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000435858"	"00434390"	"1"	"00006"	"00006"	"2023-03-24 10:31:23"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000435859"	"00434391"	"1"	"00006"	"00006"	"2023-03-24 10:31:23"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000435860"	"00434392"	"1"	"00006"	"00006"	"2023-03-24 10:31:23"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000435861"	"00434393"	"1"	"00006"	"00006"	"2023-03-24 10:31:23"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000435862"	"00434394"	"1"	"00006"	"00006"	"2023-03-24 10:31:23"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000435863"	"00434395"	"1"	"00006"	"00006"	"2023-03-24 10:31:23"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000435864"	"00434396"	"1"	"00006"	"00006"	"2023-03-24 10:31:23"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000435865"	"00434397"	"1"	"00006"	"00006"	"2023-03-24 10:31:23"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000435866"	"00434398"	"1"	"00006"	"00006"	"2023-03-24 10:31:23"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000435867"	"00434399"	"1"	"00006"	"00006"	"2023-03-24 10:31:23"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000435868"	"00434400"	"1"	"00006"	"00006"	"2023-03-24 10:31:23"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000435869"	"00434401"	"1"	"00006"	"00006"	"2023-03-24 10:31:23"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000435870"	"00434402"	"1"	"00006"	"00006"	"2023-03-24 10:31:23"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000435871"	"00434403"	"1"	"00006"	"00006"	"2023-03-24 10:31:23"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000435872"	"00434404"	"1"	"00006"	"00006"	"2023-03-24 10:31:23"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000435873"	"00434405"	"1"	"00006"	"00006"	"2023-03-24 10:31:23"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000435874"	"00434406"	"1"	"00006"	"00006"	"2023-03-24 10:31:23"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000435877"	"00434409"	"1"	"00006"	"00006"	"2023-03-24 10:57:18"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000435878"	"00434410"	"1"	"00006"	"00006"	"2023-03-24 10:57:18"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000435879"	"00434411"	"1"	"00006"	"00006"	"2023-03-24 10:57:18"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000435880"	"00434412"	"1"	"00006"	"00006"	"2023-03-24 10:57:18"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000435881"	"00434413"	"1"	"00006"	"00006"	"2023-03-24 10:57:18"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000435882"	"00434414"	"1"	"00006"	"00006"	"2023-03-24 10:57:18"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000435883"	"00434415"	"1"	"00006"	"00006"	"2023-03-24 10:57:18"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000435884"	"00434416"	"1"	"00006"	"00006"	"2023-03-24 10:57:18"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000435885"	"00434417"	"1"	"00006"	"00006"	"2023-03-24 10:57:18"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000435886"	"00434418"	"1"	"00006"	"00006"	"2023-03-24 10:57:18"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000435887"	"00434419"	"1"	"00006"	"00006"	"2023-03-24 10:57:18"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000435908"	"00434440"	"1"	"00006"	"00006"	"2023-03-24 17:13:27"	""	""	"SEQ"	"DNA"	""	""
"0000435914"	"00434446"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435915"	"00434447"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435916"	"00434448"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435917"	"00434449"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435918"	"00434450"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435919"	"00434451"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435920"	"00434452"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435921"	"00434453"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435922"	"00434454"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435923"	"00434455"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435924"	"00434456"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435925"	"00434457"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435926"	"00434458"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435927"	"00434459"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435928"	"00434460"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435929"	"00434461"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435930"	"00434462"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435931"	"00434463"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435932"	"00434464"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435933"	"00434465"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435934"	"00434466"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435935"	"00434467"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435936"	"00434468"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435937"	"00434469"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435938"	"00434470"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435939"	"00434471"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435940"	"00434472"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435941"	"00434473"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435942"	"00434474"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435943"	"00434475"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435944"	"00434476"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435945"	"00434477"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435946"	"00434478"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435947"	"00434479"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435948"	"00434480"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435949"	"00434481"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435950"	"00434482"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435951"	"00434483"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435952"	"00434484"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435953"	"00434485"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435954"	"00434486"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435955"	"00434487"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435956"	"00434488"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435957"	"00434489"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435958"	"00434490"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435959"	"00434491"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435960"	"00434492"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435961"	"00434493"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435962"	"00434494"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435963"	"00434495"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435964"	"00434496"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435965"	"00434497"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435966"	"00434498"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435967"	"00434499"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435968"	"00434500"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435969"	"00434501"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435970"	"00434502"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435971"	"00434503"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435972"	"00434504"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435973"	"00434505"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435974"	"00434506"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435975"	"00434507"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435976"	"00434508"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435977"	"00434509"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435978"	"00434510"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435979"	"00434511"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435980"	"00434512"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435981"	"00434513"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435982"	"00434514"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435983"	"00434515"	"1"	"00006"	"00006"	"2023-04-01 17:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000435984"	"00434516"	"1"	"00006"	"00006"	"2023-04-01 17:45:27"	"00006"	"2023-04-01 19:09:49"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000435985"	"00434517"	"1"	"00006"	"00006"	"2023-04-01 17:45:27"	"00006"	"2023-04-01 19:07:41"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000435986"	"00434518"	"1"	"00006"	"00006"	"2023-04-01 17:45:27"	"00006"	"2023-04-01 19:04:38"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000435987"	"00434519"	"1"	"00006"	"00006"	"2023-04-01 17:45:27"	"00006"	"2023-04-01 19:03:54"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000435988"	"00434520"	"1"	"00006"	"00006"	"2023-04-01 17:45:27"	"00006"	"2023-04-01 19:12:30"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000435989"	"00434521"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000435990"	"00434522"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000435991"	"00434523"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000435992"	"00434524"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000435993"	"00434525"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000435994"	"00434526"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000435995"	"00434527"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000435996"	"00434528"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000435997"	"00434529"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000435998"	"00434530"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000435999"	"00434531"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436000"	"00434532"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436001"	"00434533"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436002"	"00434534"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436003"	"00434535"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436004"	"00434536"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436005"	"00434537"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436006"	"00434538"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436007"	"00434539"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436008"	"00434540"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436009"	"00434541"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436010"	"00434542"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436011"	"00434543"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436012"	"00434544"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436013"	"00434545"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436014"	"00434546"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436015"	"00434547"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436016"	"00434548"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436017"	"00434549"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436018"	"00434550"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436019"	"00434551"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436020"	"00434552"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436021"	"00434553"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436022"	"00434554"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436023"	"00434555"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436024"	"00434556"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436025"	"00434557"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436026"	"00434558"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436027"	"00434559"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436028"	"00434560"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436029"	"00434561"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436030"	"00434562"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436031"	"00434563"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436032"	"00434564"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436033"	"00434565"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436034"	"00434566"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436035"	"00434567"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436036"	"00434568"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436037"	"00434569"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436038"	"00434570"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436039"	"00434571"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436040"	"00434572"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436041"	"00434573"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436042"	"00434574"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436043"	"00434575"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436044"	"00434576"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436045"	"00434577"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436046"	"00434578"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436047"	"00434579"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436048"	"00434580"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436049"	"00434581"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436050"	"00434582"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436051"	"00434583"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436052"	"00434584"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436053"	"00434585"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436054"	"00434586"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436055"	"00434587"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436056"	"00434588"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436057"	"00434589"	"1"	"00006"	"00006"	"2023-04-01 22:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000436352"	"00434880"	"1"	"00006"	"00006"	"2023-04-07 20:11:57"	""	""	"SEQ"	"DNA"	""	""
"0000436353"	"00434881"	"1"	"00006"	"00006"	"2023-04-07 20:11:57"	""	""	"SEQ"	"DNA"	""	""
"0000436354"	"00434882"	"1"	"00006"	"00006"	"2023-04-07 20:11:57"	""	""	"SEQ"	"DNA"	""	""
"0000436355"	"00434883"	"1"	"00006"	"00006"	"2023-04-07 20:11:57"	""	""	"SEQ"	"DNA"	""	""
"0000436356"	"00434884"	"1"	"00006"	"00006"	"2023-04-07 20:11:57"	""	""	"SEQ"	"DNA"	""	""
"0000436357"	"00434885"	"1"	"00006"	"00006"	"2023-04-07 20:11:57"	""	""	"SEQ"	"DNA"	""	""
"0000436358"	"00434886"	"1"	"00006"	"00006"	"2023-04-07 20:11:57"	""	""	"SEQ"	"DNA"	""	""
"0000436359"	"00434887"	"1"	"00006"	"00006"	"2023-04-07 20:11:57"	""	""	"SEQ"	"DNA"	""	""
"0000436360"	"00434888"	"1"	"00006"	"00006"	"2023-04-07 20:11:57"	""	""	"SEQ"	"DNA"	""	""
"0000436361"	"00434889"	"1"	"00006"	"00006"	"2023-04-07 20:11:57"	""	""	"SEQ"	"DNA"	""	""
"0000436362"	"00434890"	"1"	"00006"	"00006"	"2023-04-07 20:11:57"	""	""	"SEQ"	"DNA"	""	""
"0000436363"	"00434891"	"1"	"00006"	"00006"	"2023-04-07 20:11:57"	""	""	"SEQ"	"DNA"	""	""
"0000436413"	"00434940"	"1"	"00006"	"00006"	"2023-04-14 17:49:22"	""	""	"SEQ"	"DNA"	""	""
"0000436414"	"00434941"	"1"	"00006"	"00006"	"2023-04-14 17:49:22"	""	""	"SEQ"	"DNA"	""	""
"0000436415"	"00434942"	"1"	"00006"	"00006"	"2023-04-14 17:49:22"	""	""	"SEQ"	"DNA"	""	""
"0000436416"	"00434943"	"1"	"00006"	"00006"	"2023-04-14 17:49:22"	""	""	"SEQ"	"DNA"	""	""
"0000436417"	"00434944"	"1"	"00006"	"00006"	"2023-04-14 17:49:22"	""	""	"SEQ"	"DNA"	""	""
"0000436418"	"00434945"	"1"	"00006"	"00006"	"2023-04-14 17:49:22"	""	""	"SEQ"	"DNA"	""	""
"0000436419"	"00434946"	"1"	"00006"	"00006"	"2023-04-14 17:49:22"	""	""	"SEQ"	"DNA"	""	""
"0000436420"	"00434947"	"1"	"00006"	"00006"	"2023-04-14 17:49:22"	""	""	"SEQ"	"DNA"	""	""
"0000436421"	"00434948"	"1"	"00006"	"00006"	"2023-04-14 17:49:22"	""	""	"SEQ"	"DNA"	""	""
"0000436422"	"00434949"	"1"	"00006"	"00006"	"2023-04-14 17:49:22"	""	""	"SEQ"	"DNA"	""	""
"0000436423"	"00434950"	"1"	"00006"	"00006"	"2023-04-14 17:49:22"	""	""	"SEQ"	"DNA"	""	""
"0000436424"	"00434951"	"1"	"00006"	"00006"	"2023-04-14 17:49:22"	""	""	"SEQ"	"DNA"	""	""
"0000436425"	"00434952"	"1"	"00006"	"00006"	"2023-04-14 17:49:22"	""	""	"SEQ"	"DNA"	""	""
"0000436426"	"00434953"	"1"	"00006"	"00006"	"2023-04-14 17:49:22"	""	""	"SEQ"	"DNA"	""	""
"0000436427"	"00434954"	"1"	"00006"	"00006"	"2023-04-14 17:49:22"	""	""	"SEQ"	"DNA"	""	""
"0000436428"	"00434955"	"1"	"00006"	"00006"	"2023-04-14 17:49:22"	""	""	"SEQ"	"DNA"	""	""
"0000436429"	"00434956"	"1"	"00006"	"00006"	"2023-04-14 17:49:22"	""	""	"SEQ"	"DNA"	""	""
"0000436430"	"00434957"	"1"	"00006"	"00006"	"2023-04-14 17:49:22"	""	""	"SEQ"	"DNA"	""	""
"0000436431"	"00434958"	"1"	"00006"	"00006"	"2023-04-14 17:49:22"	""	""	"SEQ"	"DNA"	""	""
"0000436432"	"00434959"	"1"	"00006"	"00006"	"2023-04-14 17:49:22"	""	""	"SEQ"	"DNA"	""	""
"0000436433"	"00434960"	"1"	"00006"	"00006"	"2023-04-14 17:49:22"	""	""	"SEQ"	"DNA"	""	""
"0000436434"	"00434961"	"1"	"00006"	"00006"	"2023-04-14 17:49:22"	""	""	"SEQ"	"DNA"	""	""
"0000436435"	"00434962"	"1"	"00006"	"00006"	"2023-04-14 17:49:22"	""	""	"SEQ"	"DNA"	""	""
"0000436436"	"00434963"	"1"	"00006"	"00006"	"2023-04-14 17:49:22"	""	""	"SEQ"	"DNA"	""	""
"0000436437"	"00434964"	"1"	"00006"	"00006"	"2023-04-14 17:49:22"	""	""	"SEQ"	"DNA"	""	""
"0000436438"	"00434965"	"1"	"00006"	"00006"	"2023-04-14 17:49:22"	""	""	"SEQ"	"DNA"	""	""
"0000436439"	"00434966"	"1"	"00006"	"00006"	"2023-04-14 17:49:22"	""	""	"SEQ"	"DNA"	""	""
"0000436440"	"00434967"	"1"	"00006"	"00006"	"2023-04-14 17:49:22"	""	""	"SEQ"	"DNA"	""	""
"0000436441"	"00434968"	"1"	"00006"	"00006"	"2023-04-14 17:49:22"	""	""	"SEQ"	"DNA"	""	""
"0000436442"	"00434969"	"1"	"00006"	"00006"	"2023-04-14 17:49:22"	""	""	"SEQ"	"DNA"	""	""
"0000436443"	"00434970"	"1"	"00006"	"00006"	"2023-04-14 17:49:22"	""	""	"SEQ"	"DNA"	""	""
"0000436444"	"00434971"	"1"	"00006"	"00006"	"2023-04-14 17:49:22"	""	""	"SEQ"	"DNA"	""	""
"0000436445"	"00434972"	"1"	"00006"	"00006"	"2023-04-14 17:49:22"	""	""	"SEQ"	"DNA"	""	""
"0000436446"	"00434973"	"1"	"00006"	"00006"	"2023-04-14 17:49:22"	""	""	"SEQ"	"DNA"	""	""
"0000436447"	"00434974"	"1"	"00006"	"00006"	"2023-04-14 17:49:22"	""	""	"SEQ"	"DNA"	""	""
"0000436448"	"00434975"	"1"	"00006"	"00006"	"2023-04-14 17:49:22"	""	""	"SEQ"	"DNA"	""	""
"0000436449"	"00434976"	"1"	"00006"	"00006"	"2023-04-14 17:49:22"	""	""	"SEQ"	"DNA"	""	""
"0000436450"	"00434977"	"1"	"00006"	"00006"	"2023-04-14 17:49:22"	""	""	"SEQ"	"DNA"	""	""
"0000436451"	"00434978"	"1"	"00006"	"00006"	"2023-04-14 17:49:22"	""	""	"SEQ"	"DNA"	""	""
"0000436452"	"00434979"	"1"	"00006"	"00006"	"2023-04-14 17:49:22"	""	""	"SEQ"	"DNA"	""	""
"0000457872"	"00456255"	"1"	"00006"	"00006"	"2024-10-24 08:52:57"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000457881"	"00456264"	"1"	"00006"	"00006"	"2024-10-24 08:52:57"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000457886"	"00456269"	"1"	"00006"	"00006"	"2024-10-24 08:52:57"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 345
"{{screeningid}}"	"{{geneid}}"
"0000000027"	"AMPD1"
"0000000027"	"ARSB"
"0000000027"	"ATP7B"
"0000000027"	"CBS"
"0000000027"	"CFTR"
"0000000027"	"DPYD"
"0000000027"	"ETFB"
"0000000027"	"HEXB"
"0000000027"	"MYO5A"
"0000000027"	"NHLRC1"
"0000000027"	"NPC1"
"0000000027"	"NPHS1"
"0000000027"	"SLC26A2"
"0000000047"	"ATP7B"
"0000000047"	"BCKDHA"
"0000000047"	"DPYD"
"0000000047"	"ETFB"
"0000000047"	"HEXB"
"0000000047"	"IGHMBP2"
"0000000047"	"KMT2A"
"0000000047"	"MEFV"
"0000000047"	"MPL"
"0000000047"	"MYO5A"
"0000000047"	"NHLRC1"
"0000000047"	"NPC1"
"0000000047"	"NPHS1"
"0000000047"	"SERPINA1"
"0000000071"	"ATP7B"
"0000000071"	"ETFB"
"0000000071"	"LAMA2"
"0000000071"	"MTHFR"
"0000000071"	"NHLRC1"
"0000000071"	"NPC1"
"0000000071"	"OFD1"
"0000000071"	"PAH"
"0000000071"	"SERPINA1"
"0000000071"	"SMPD1"
"0000073279"	"NPC1"
"0000073280"	"NPC1"
"0000133640"	"NPC1"
"0000149426"	"NPC1"
"0000165991"	"NPC1"
"0000166051"	"NPC1"
"0000166052"	"NPC1"
"0000307358"	"NPC1"
"0000308290"	"NPC1"
"0000308585"	"NPC1"
"0000316076"	"NPC1"
"0000362700"	"NPC1"
"0000375311"	"NPC1"
"0000375615"	"NPC1"
"0000375990"	"NPC1"
"0000435772"	"NPC1"
"0000435773"	"NPC1"
"0000435774"	"NPC1"
"0000435775"	"NPC1"
"0000435776"	"NPC1"
"0000435777"	"NPC1"
"0000435778"	"NPC1"
"0000435779"	"NPC1"
"0000435781"	"NPC1"
"0000435782"	"NPC1"
"0000435783"	"NPC1"
"0000435785"	"NPC1"
"0000435786"	"NPC1"
"0000435787"	"NPC1"
"0000435788"	"NPC1"
"0000435789"	"NPC1"
"0000435790"	"NPC1"
"0000435791"	"NPC1"
"0000435792"	"NPC1"
"0000435793"	"NPC1"
"0000435794"	"NPC1"
"0000435795"	"NPC1"
"0000435798"	"NPC1"
"0000435799"	"NPC1"
"0000435800"	"NPC1"
"0000435801"	"NPC1"
"0000435802"	"NPC1"
"0000435803"	"NPC1"
"0000435804"	"NPC1"
"0000435805"	"NPC1"
"0000435806"	"NPC1"
"0000435807"	"NPC1"
"0000435808"	"NPC1"
"0000435809"	"NPC1"
"0000435810"	"NPC1"
"0000435811"	"NPC1"
"0000435812"	"NPC1"
"0000435813"	"NPC1"
"0000435814"	"NPC1"
"0000435815"	"NPC1"
"0000435816"	"NPC1"
"0000435817"	"NPC1"
"0000435818"	"NPC1"
"0000435819"	"NPC1"
"0000435820"	"NPC1"
"0000435821"	"NPC1"
"0000435822"	"NPC1"
"0000435823"	"NPC1"
"0000435824"	"NPC1"
"0000435834"	"NPC1"
"0000435834"	"NPC2"
"0000435842"	"NPC1"
"0000435843"	"NPC1"
"0000435844"	"NPC1"
"0000435845"	"NPC1"
"0000435846"	"NPC1"
"0000435847"	"NPC1"
"0000435848"	"NPC1"
"0000435849"	"NPC1"
"0000435850"	"NPC1"
"0000435851"	"NPC1"
"0000435852"	"NPC1"
"0000435853"	"NPC1"
"0000435854"	"NPC1"
"0000435855"	"NPC1"
"0000435856"	"NPC1"
"0000435857"	"NPC1"
"0000435858"	"NPC1"
"0000435859"	"NPC1"
"0000435860"	"NPC1"
"0000435861"	"NPC1"
"0000435862"	"NPC1"
"0000435863"	"NPC1"
"0000435864"	"NPC1"
"0000435865"	"NPC1"
"0000435866"	"NPC1"
"0000435867"	"NPC1"
"0000435868"	"NPC1"
"0000435869"	"NPC1"
"0000435870"	"NPC1"
"0000435871"	"NPC1"
"0000435872"	"NPC1"
"0000435873"	"NPC1"
"0000435874"	"NPC1"
"0000435877"	"NPC1"
"0000435878"	"NPC1"
"0000435879"	"NPC1"
"0000435880"	"NPC1"
"0000435881"	"NPC1"
"0000435882"	"NPC1"
"0000435883"	"NPC1"
"0000435884"	"NPC1"
"0000435885"	"NPC1"
"0000435886"	"NPC1"
"0000435887"	"NPC1"
"0000435908"	"NPC1"
"0000435908"	"NPC2"
"0000435914"	"NPC1"
"0000435915"	"NPC1"
"0000435916"	"NPC1"
"0000435917"	"NPC1"
"0000435918"	"NPC1"
"0000435919"	"NPC1"
"0000435920"	"NPC1"
"0000435921"	"NPC1"
"0000435922"	"NPC1"
"0000435923"	"NPC1"
"0000435924"	"NPC1"
"0000435925"	"NPC1"
"0000435926"	"NPC1"
"0000435927"	"NPC1"
"0000435928"	"NPC1"
"0000435929"	"NPC1"
"0000435930"	"NPC1"
"0000435931"	"NPC1"
"0000435932"	"NPC1"
"0000435933"	"NPC1"
"0000435934"	"NPC1"
"0000435935"	"NPC1"
"0000435936"	"NPC1"
"0000435937"	"NPC1"
"0000435938"	"NPC1"
"0000435939"	"NPC1"
"0000435940"	"NPC1"
"0000435941"	"NPC1"
"0000435942"	"NPC1"
"0000435943"	"NPC1"
"0000435944"	"NPC1"
"0000435945"	"NPC1"
"0000435946"	"NPC1"
"0000435947"	"NPC1"
"0000435948"	"NPC1"
"0000435949"	"NPC1"
"0000435950"	"NPC1"
"0000435951"	"NPC1"
"0000435952"	"NPC1"
"0000435953"	"NPC1"
"0000435954"	"NPC1"
"0000435955"	"NPC1"
"0000435956"	"NPC1"
"0000435957"	"NPC1"
"0000435958"	"NPC1"
"0000435959"	"NPC1"
"0000435960"	"NPC1"
"0000435961"	"NPC1"
"0000435962"	"NPC1"
"0000435963"	"NPC1"
"0000435964"	"NPC1"
"0000435965"	"NPC1"
"0000435966"	"NPC1"
"0000435967"	"NPC1"
"0000435968"	"NPC1"
"0000435969"	"NPC1"
"0000435970"	"NPC1"
"0000435971"	"NPC1"
"0000435972"	"NPC1"
"0000435973"	"NPC1"
"0000435974"	"NPC1"
"0000435975"	"NPC1"
"0000435976"	"NPC1"
"0000435977"	"NPC1"
"0000435978"	"NPC1"
"0000435979"	"NPC1"
"0000435980"	"NPC1"
"0000435981"	"NPC1"
"0000435982"	"NPC1"
"0000435983"	"NPC1"
"0000435984"	"NPC1"
"0000435985"	"NPC1"
"0000435986"	"NPC1"
"0000435987"	"NPC1"
"0000435988"	"NPC1"
"0000435989"	"NPC1"
"0000435990"	"NPC1"
"0000435991"	"NPC1"
"0000435992"	"NPC1"
"0000435993"	"NPC1"
"0000435994"	"NPC1"
"0000435995"	"NPC1"
"0000435996"	"NPC1"
"0000435997"	"NPC1"
"0000435998"	"NPC1"
"0000435999"	"NPC1"
"0000436000"	"NPC1"
"0000436001"	"NPC1"
"0000436002"	"NPC1"
"0000436003"	"NPC1"
"0000436004"	"NPC1"
"0000436005"	"NPC1"
"0000436006"	"NPC1"
"0000436007"	"NPC1"
"0000436008"	"NPC1"
"0000436009"	"NPC1"
"0000436010"	"NPC1"
"0000436011"	"NPC1"
"0000436012"	"NPC1"
"0000436013"	"NPC1"
"0000436014"	"NPC1"
"0000436015"	"NPC1"
"0000436016"	"NPC1"
"0000436017"	"NPC1"
"0000436018"	"NPC1"
"0000436019"	"NPC1"
"0000436020"	"NPC1"
"0000436021"	"NPC1"
"0000436022"	"NPC1"
"0000436023"	"NPC1"
"0000436024"	"NPC1"
"0000436025"	"NPC1"
"0000436026"	"NPC1"
"0000436027"	"NPC1"
"0000436028"	"NPC1"
"0000436029"	"NPC1"
"0000436030"	"NPC1"
"0000436031"	"NPC1"
"0000436032"	"NPC1"
"0000436033"	"NPC1"
"0000436034"	"NPC1"
"0000436035"	"NPC1"
"0000436036"	"NPC1"
"0000436037"	"NPC1"
"0000436038"	"NPC1"
"0000436039"	"NPC1"
"0000436040"	"NPC1"
"0000436041"	"NPC1"
"0000436042"	"NPC1"
"0000436043"	"NPC1"
"0000436044"	"NPC1"
"0000436045"	"NPC1"
"0000436046"	"NPC1"
"0000436047"	"NPC1"
"0000436048"	"NPC1"
"0000436049"	"NPC1"
"0000436050"	"NPC1"
"0000436051"	"NPC1"
"0000436052"	"NPC1"
"0000436053"	"NPC1"
"0000436054"	"NPC1"
"0000436055"	"NPC1"
"0000436056"	"NPC1"
"0000436057"	"NPC1"
"0000436352"	"NPC1"
"0000436353"	"NPC1"
"0000436354"	"NPC1"
"0000436355"	"NPC1"
"0000436356"	"NPC1"
"0000436357"	"NPC1"
"0000436358"	"NPC1"
"0000436359"	"NPC1"
"0000436360"	"NPC1"
"0000436361"	"NPC1"
"0000436362"	"NPC1"
"0000436363"	"NPC1"
"0000436413"	"NPC1"
"0000436414"	"NPC1"
"0000436415"	"NPC1"
"0000436416"	"NPC1"
"0000436417"	"NPC1"
"0000436418"	"NPC1"
"0000436419"	"NPC1"
"0000436420"	"NPC1"
"0000436421"	"NPC1"
"0000436422"	"NPC1"
"0000436423"	"NPC1"
"0000436424"	"NPC1"
"0000436425"	"NPC1"
"0000436426"	"NPC1"
"0000436427"	"NPC1"
"0000436428"	"NPC1"
"0000436429"	"NPC1"
"0000436430"	"NPC1"
"0000436431"	"NPC1"
"0000436432"	"NPC1"
"0000436433"	"NPC1"
"0000436434"	"NPC1"
"0000436435"	"NPC1"
"0000436436"	"NPC1"
"0000436437"	"NPC1"
"0000436438"	"NPC1"
"0000436439"	"NPC1"
"0000436440"	"NPC1"
"0000436441"	"NPC1"
"0000436442"	"NPC1"
"0000436443"	"NPC1"
"0000436444"	"NPC1"
"0000436445"	"NPC1"
"0000436446"	"NPC1"
"0000436447"	"NPC1"
"0000436448"	"NPC1"
"0000436449"	"NPC1"
"0000436450"	"NPC1"
"0000436451"	"NPC1"
"0000436452"	"NPC1"


## 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 = 814
"{{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}}"
"0000000678"	"0"	"50"	"18"	"21140411"	"21140411"	"subst"	"0.00333312"	"00002"	"NPC1_000001"	"g.21140411T>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.23560447T>C"	""	"VUS"	""
"0000000679"	"0"	"50"	"18"	"21140411"	"21140411"	"subst"	"0.00333312"	"00002"	"NPC1_000001"	"g.21140411T>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.23560447T>C"	""	"VUS"	""
"0000000680"	"0"	"50"	"18"	"21119369"	"21119369"	"subst"	"7.31999E-5"	"00002"	"NPC1_000002"	"g.21119369G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.23539405G>A"	""	"VUS"	""
"0000116904"	"10"	"90"	"18"	"21166247"	"21166247"	"subst"	"0"	"01400"	"NPC1_000004"	"g.21166247T>C"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.23586283T>C"	""	"pathogenic"	""
"0000116905"	"21"	"90"	"18"	"21148899"	"21148900"	"del"	"0"	"01400"	"NPC1_000003"	"g.21148899_21148900del"	""	""	""	"352_353delAG"	""	"Germline"	""	""	"0"	""	""	"g.23568935_23568936del"	""	"pathogenic"	""
"0000116906"	"0"	"90"	"18"	"21136377"	"21136377"	"subst"	"4.06405E-6"	"01400"	"NPC1_000005"	"g.21136377T>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.23556413T>C"	""	"pathogenic"	""
"0000116907"	"1"	"90"	"18"	"21124979"	"21124979"	"subst"	"0"	"01400"	"NPC1_000006"	"g.21124979A>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.23545015A>C"	""	"pathogenic"	""
"0000222886"	"11"	"90"	"18"	"21118615"	"21118615"	"subst"	"1.21883E-5"	"00006"	"NPC1_000007"	"g.21118615G>A"	""	"{PMID:Di Leo 2004:15459971}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23538651G>A"	""	"pathogenic"	""
"0000222887"	"21"	"10"	"18"	"21124945"	"21124945"	"subst"	"0"	"00006"	"NPC1_000008"	"g.21124945C>T"	""	"{PMID:Di Leo 2004:15459971}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23544981C>T"	""	"benign"	""
"0000222888"	"11"	"10"	"18"	"21120444"	"21120444"	"subst"	"0.499935"	"00006"	"NPC1_000009"	"g.21120444T>C"	""	"{PMID:Di Leo 2004:15459971}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23540480T>C"	""	"benign"	""
"0000222889"	"11"	"10"	"18"	"21119777"	"21119777"	"subst"	"0.499024"	"00006"	"NPC1_000010"	"g.21119777G>A"	""	"{PMID:Di Leo 2004:15459971}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23539813G>A"	""	"benign"	""
"0000222890"	"11"	"10"	"18"	"21112206"	"21112206"	"subst"	"0.0712626"	"00006"	"NPC1_000011"	"g.21112206C>T"	""	"{PMID:Di Leo 2004:15459971}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23532242C>T"	""	"benign"	""
"0000222891"	"21"	"90"	"18"	"21137182"	"21137182"	"subst"	"0"	"00006"	"NPC1_000012"	"g.21137182T>C"	""	"{PMID:Di Leo 2004:15459971}"	""	""	"branchpoint variant"	"Germline"	""	""	"0"	""	""	"g.23557218T>C"	""	"pathogenic"	""
"0000242775"	"0"	"90"	"18"	"21116809"	"21116816"	"del"	"0"	"01741"	"NPC1_000013"	"g.21116809_21116816delinsA"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.23536845_23536852delinsA"	""	"pathogenic"	""
"0000247491"	"0"	"10"	"18"	"21148863"	"21148863"	"subst"	"0.143702"	"02330"	"NPC1_000092"	"g.21148863A>G"	""	""	""	"NPC1(NM_000271.4):c.387T>C (p.Y129=), NPC1(NM_000271.5):c.387T>C (p.Y129=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23568899A>G"	""	"benign"	""
"0000247503"	"0"	"10"	"18"	"21115414"	"21115414"	"subst"	"0.000191484"	"02330"	"NPC1_000021"	"g.21115414A>G"	""	""	""	"NPC1(NM_000271.5):c.3477+19T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23535450A>G"	""	"benign"	""
"0000248173"	"0"	"30"	"18"	"21115414"	"21115414"	"subst"	"0.000191484"	"02325"	"NPC1_000021"	"g.21115414A>G"	""	""	""	"NPC1(NM_000271.5):c.3477+19T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23535450A>G"	""	"likely benign"	""
"0000248174"	"0"	"30"	"18"	"21119756"	"21119756"	"subst"	"0.00362611"	"02325"	"NPC1_000034"	"g.21119756A>G"	""	""	""	"NPC1(NM_000271.5):c.2795+19T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23539792A>G"	""	"likely benign"	""
"0000248334"	"0"	"10"	"18"	"21123554"	"21123554"	"del"	"0"	"02325"	"NPC1_000041"	"g.21123554del"	""	""	""	"NPC1(NM_000271.4):c.2131-4del (p.?), NPC1(NM_000271.4):c.2131-4delT, NPC1(NM_000271.5):c.2131-4delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23543590del"	""	"benign"	""
"0000249639"	"0"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"02325"	"NPC1_000030"	"g.21116700A>G"	""	""	""	"NPC1(NM_000271.4):c.3182T>C (p.I1061T), NPC1(NM_000271.5):c.3182T>C (p.I1061T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic"	""
"0000249888"	"0"	"10"	"18"	"21148863"	"21148863"	"subst"	"0.143702"	"02329"	"NPC1_000092"	"g.21148863A>G"	""	""	""	"NPC1(NM_000271.4):c.387T>C (p.Y129=), NPC1(NM_000271.5):c.387T>C (p.Y129=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23568899A>G"	""	"benign"	""
"0000250014"	"0"	"30"	"18"	"21115414"	"21115414"	"subst"	"0.000191484"	"02329"	"NPC1_000021"	"g.21115414A>G"	""	""	""	"NPC1(NM_000271.5):c.3477+19T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23535450A>G"	""	"likely benign"	""
"0000250015"	"0"	"30"	"18"	"21119756"	"21119756"	"subst"	"0.00362611"	"02329"	"NPC1_000034"	"g.21119756A>G"	""	""	""	"NPC1(NM_000271.5):c.2795+19T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23539792A>G"	""	"likely benign"	""
"0000250069"	"0"	"10"	"18"	"21123554"	"21123554"	"del"	"0"	"02329"	"NPC1_000041"	"g.21123554del"	""	""	""	"NPC1(NM_000271.4):c.2131-4del (p.?), NPC1(NM_000271.4):c.2131-4delT, NPC1(NM_000271.5):c.2131-4delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23543590del"	""	"benign"	""
"0000250484"	"0"	"30"	"18"	"21124907"	"21124907"	"subst"	"0"	"02329"	"NPC1_000055"	"g.21124907A>C"	""	""	""	"NPC1(NM_000271.5):c.1947+17T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23544943A>C"	""	"likely benign"	""
"0000250521"	"0"	"90"	"18"	"21148944"	"21148944"	"subst"	"0"	"02329"	"NPC1_000093"	"g.21148944A>C"	""	""	""	"NPC1(NM_000271.4):c.306T>G (p.Y102*), NPC1(NM_000271.5):c.306T>G (p.Y102*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23568980A>C"	""	"pathogenic"	""
"0000250874"	"0"	"10"	"18"	"21115414"	"21115414"	"subst"	"0.000191484"	"02326"	"NPC1_000021"	"g.21115414A>G"	""	""	""	"NPC1(NM_000271.5):c.3477+19T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23535450A>G"	""	"benign"	""
"0000250875"	"0"	"10"	"18"	"21119756"	"21119756"	"subst"	"0.00362611"	"02326"	"NPC1_000034"	"g.21119756A>G"	""	""	""	"NPC1(NM_000271.5):c.2795+19T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23539792A>G"	""	"benign"	""
"0000250987"	"0"	"10"	"18"	"21120397"	"21120397"	"del"	"0"	"02326"	"NPC1_000037"	"g.21120397del"	""	""	""	"NPC1(NM_000271.5):c.2604+30delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23540433del"	""	"benign"	""
"0000253112"	"0"	"10"	"18"	"21148863"	"21148863"	"subst"	"0.143702"	"01943"	"NPC1_000092"	"g.21148863A>G"	""	""	""	"NPC1(NM_000271.4):c.387T>C (p.Y129=), NPC1(NM_000271.5):c.387T>C (p.Y129=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23568899A>G"	""	"benign"	""
"0000293166"	"0"	"30"	"18"	"21124972"	"21124972"	"subst"	"4.0627E-6"	"02330"	"NPC1_000071"	"g.21124972T>C"	""	""	""	"NPC1(NM_000271.5):c.1899A>G (p.L633=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23545008T>C"	""	"likely benign"	""
"0000293167"	"0"	"10"	"18"	"21124945"	"21124945"	"subst"	"0.727274"	"02330"	"NPC1_000069"	"g.21124945C>G"	""	""	""	"NPC1(NM_000271.5):c.1926G>C (p.M642I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23544981C>G"	""	"benign"	""
"0000293168"	"0"	"10"	"18"	"21124914"	"21124914"	"subst"	"0.00789406"	"02330"	"NPC1_000064"	"g.21124914C>G"	""	""	""	"NPC1(NM_000271.5):c.1947+10G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23544950C>G"	""	"benign"	""
"0000293174"	"0"	"10"	"18"	"21124916"	"21124916"	"del"	"0"	"02330"	"NPC1_000059"	"g.21124916del"	""	""	""	"NPC1(NM_000271.5):c.1947+16delG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23544952del"	""	"benign"	""
"0000293175"	"0"	"10"	"18"	"21123554"	"21123554"	"del"	"0"	"02330"	"NPC1_000041"	"g.21123554del"	""	""	""	"NPC1(NM_000271.4):c.2131-4del (p.?), NPC1(NM_000271.4):c.2131-4delT, NPC1(NM_000271.5):c.2131-4delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23543590del"	""	"benign"	""
"0000293176"	"0"	"10"	"18"	"21120444"	"21120444"	"subst"	"0.499935"	"02330"	"NPC1_000009"	"g.21120444T>C"	""	""	""	"NPC1(NM_000271.4):c.2572A>G (p.I858V), NPC1(NM_000271.5):c.2572A>G (p.I858V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23540480T>C"	""	"benign"	""
"0000293177"	"0"	"10"	"18"	"21115684"	"21115684"	"subst"	"0.0028451"	"02330"	"NPC1_000026"	"g.21115684C>T"	""	""	""	"NPC1(NM_000271.5):c.3246-20G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23535720C>T"	""	"benign"	""
"0000293178"	"0"	"10"	"18"	"21114440"	"21114440"	"subst"	"0.00261548"	"02330"	"NPC1_000019"	"g.21114440C>A"	""	""	""	"NPC1(NM_000271.4):c.3561G>T (p.A1187=), NPC1(NM_000271.5):c.3561G>T (p.A1187=, p.(Ala1187=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23534476C>A"	""	"benign"	""
"0000293179"	"0"	"10"	"18"	"21112206"	"21112206"	"subst"	"0.0712626"	"02330"	"NPC1_000011"	"g.21112206C>T"	""	""	""	"NPC1(NM_000271.4):c.3797G>A (p.R1266Q), NPC1(NM_000271.5):c.3797G>A (p.R1266Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23532242C>T"	""	"benign"	""
"0000293180"	"0"	"10"	"18"	"21140432"	"21140432"	"subst"	"0.332364"	"02330"	"NPC1_000085"	"g.21140432T>C"	""	""	""	"NPC1(NM_000271.4):c.644A>G (p.H215R), NPC1(NM_000271.5):c.644A>G (p.H215R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23560468T>C"	""	"benign"	""
"0000293181"	"0"	"10"	"18"	"21140367"	"21140367"	"subst"	"0.0100463"	"02330"	"NPC1_000083"	"g.21140367G>A"	""	""	""	"NPC1(NM_000271.4):c.709C>T (p.(Pro237Ser)), NPC1(NM_000271.5):c.709C>T (p.P237S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23560403G>A"	""	"benign"	""
"0000296558"	"0"	"30"	"18"	"21136231"	"21136231"	"subst"	"1.21868E-5"	"02325"	"NPC1_000078"	"g.21136231C>T"	""	""	""	"NPC1(NM_000271.5):c.1302G>A (p.P434=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23556267C>T"	""	"likely benign"	""
"0000296559"	"0"	"10"	"18"	"21134743"	"21134743"	"subst"	"0.000674369"	"02325"	"NPC1_000075"	"g.21134743G>A"	""	""	""	"NPC1(NM_000271.5):c.1532C>T (p.T511M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23554779G>A"	""	"benign"	""
"0000296560"	"0"	"30"	"18"	"21134704"	"21134704"	"subst"	"0.000401445"	"02325"	"NPC1_000073"	"g.21134704T>C"	""	""	""	"NPC1(NM_000271.5):c.1553+18A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23554740T>C"	""	"likely benign"	""
"0000296561"	"0"	"90"	"18"	"21131617"	"21131617"	"subst"	"1.62627E-5"	"02325"	"NPC1_000072"	"g.21131617G>A"	""	""	""	"NPC1(NM_000271.5):c.1628C>T (p.P543L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23551653G>A"	""	"pathogenic"	""
"0000296563"	"0"	"10"	"18"	"21124945"	"21124945"	"subst"	"0.727274"	"02325"	"NPC1_000069"	"g.21124945C>G"	""	""	""	"NPC1(NM_000271.5):c.1926G>C (p.M642I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23544981C>G"	""	"benign"	""
"0000296564"	"0"	"30"	"18"	"21124914"	"21124914"	"subst"	"0.00789406"	"02325"	"NPC1_000064"	"g.21124914C>G"	""	""	""	"NPC1(NM_000271.5):c.1947+10G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23544950C>G"	""	"likely benign"	""
"0000296565"	"0"	"30"	"18"	"21124909"	"21124910"	"ins"	"0.0035637"	"02325"	"NPC1_000062"	"g.21124909_21124910insG"	""	""	""	"NPC1(NM_000271.5):c.1947+14_1947+15insC, NPC1(NM_000271.5):c.1947+14delGinsGC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23544945_23544946insG"	""	"likely benign"	""
"0000296566"	"0"	"30"	"18"	"21124909"	"21124910"	"ins"	"0"	"02325"	"NPC1_000063"	"g.21124909_21124910insTCCCC"	""	""	""	"NPC1(NM_000271.5):c.1947+14delGinsGGGGGA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23544945_23544946insTCCCC"	""	"likely benign"	""
"0000296567"	"0"	"10"	"18"	"21124916"	"21124916"	"dup"	"0"	"02325"	"NPC1_000056"	"g.21124916dup"	""	""	""	"NPC1(NM_000271.4):c.1947+16dupG, NPC1(NM_000271.5):c.1947+16dupG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23544952dup"	""	"benign"	""
"0000296570"	"0"	"10"	"18"	"21124914"	"21124916"	"dup"	"0"	"02325"	"NPC1_000065"	"g.21124914_21124916dup"	""	""	""	"NPC1(NM_000271.5):c.1947+14_1947+16dupGGG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23544950_23544952dup"	""	"benign"	""
"0000296571"	"0"	"90"	"18"	"21124366"	"21124366"	"subst"	"0"	"02325"	"NPC1_000048"	"g.21124366G>A"	""	""	""	"NPC1(NM_000271.5):c.2072C>T (p.(Pro691Leu), p.P691L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23544402G>A"	""	"pathogenic"	""
"0000296572"	"0"	"30"	"18"	"21124365"	"21124365"	"subst"	"0.00537316"	"02325"	"NPC1_000047"	"g.21124365C>T"	""	""	""	"NPC1(NM_000271.4):c.2073G>A (p.P691=), NPC1(NM_000271.5):c.2073G>A (p.P691=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23544401C>T"	""	"likely benign"	""
"0000296573"	"0"	"10"	"18"	"21120444"	"21120444"	"subst"	"0.499935"	"02325"	"NPC1_000009"	"g.21120444T>C"	""	""	""	"NPC1(NM_000271.4):c.2572A>G (p.I858V), NPC1(NM_000271.5):c.2572A>G (p.I858V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23540480T>C"	""	"benign"	""
"0000296574"	"0"	"30"	"18"	"21120396"	"21120398"	"del"	"0"	"02325"	"NPC1_000039"	"g.21120396_21120398del"	""	""	""	"NPC1(NM_000271.5):c.2604+14_2604+16delCTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23540432_23540434del"	""	"likely benign"	""
"0000296575"	"0"	"90"	"18"	"21118574"	"21118575"	"del"	"4.8729E-5"	"02325"	"NPC1_000032"	"g.21118574_21118575del"	""	""	""	"NPC1(NM_000271.5):c.2972_2973delAG (p.Q991Rfs*15)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23538610_23538611del"	""	"pathogenic"	""
"0000296576"	"0"	"90"	"18"	"21118536"	"21118536"	"subst"	"0.000714698"	"02325"	"NPC1_000031"	"g.21118536G>A"	""	""	""	"NPC1(NM_000271.5):c.3011C>T (p.(Ser1004Leu), p.S1004L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23538572G>A"	""	"pathogenic"	""
"0000296577"	"0"	"30"	"18"	"21116684"	"21116684"	"subst"	"0.00103561"	"02325"	"NPC1_000029"	"g.21116684G>A"	""	""	""	"NPC1(NM_000271.4):c.3198C>T (p.T1066=), NPC1(NM_000271.5):c.3198C>T (p.T1066=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23536720G>A"	""	"likely benign"	""
"0000296578"	"0"	"30"	"18"	"21115579"	"21115579"	"subst"	"0.00139288"	"02325"	"NPC1_000025"	"g.21115579G>A"	""	""	""	"NPC1(NM_000271.4):c.3331C>T (p.L1111=), NPC1(NM_000271.5):c.3331C>T (p.L1111=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23535615G>A"	""	"likely benign"	""
"0000296579"	"0"	"30"	"18"	"21115469"	"21115469"	"subst"	"0.00076574"	"02325"	"NPC1_000024"	"g.21115469G>A"	""	""	""	"NPC1(NM_000271.5):c.3441C>T (p.I1147=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23535505G>A"	""	"likely benign"	""
"0000296580"	"0"	"10"	"18"	"21115460"	"21115460"	"subst"	"0.000970549"	"02325"	"NPC1_000023"	"g.21115460G>A"	""	""	""	"NPC1(NM_000271.4):c.3450C>T (p.N1150=), NPC1(NM_000271.5):c.3450C>T (p.N1150=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23535496G>A"	""	"benign"	""
"0000296581"	"0"	"30"	"18"	"21114473"	"21114473"	"subst"	"6.90804E-5"	"02325"	"NPC1_000020"	"g.21114473C>T"	""	""	""	"NPC1(NM_000271.5):c.3528G>A (p.T1176=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23534509C>T"	""	"likely benign"	""
"0000296582"	"0"	"10"	"18"	"21113475"	"21113475"	"subst"	"0.000848869"	"02325"	"NPC1_000017"	"g.21113475T>C"	""	""	""	"NPC1(NM_000271.4):c.3598A>G (p.S1200G), NPC1(NM_000271.5):c.3598A>G (p.S1200G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23533511T>C"	""	"benign"	""
"0000296584"	"0"	"30"	"18"	"21148768"	"21148768"	"subst"	"0.00222276"	"02325"	"NPC1_000089"	"g.21148768T>C"	""	""	""	"NPC1(NM_000271.5):c.463+19A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23568804T>C"	""	"likely benign"	""
"0000296585"	"0"	"10"	"18"	"21140432"	"21140432"	"subst"	"0.332364"	"02325"	"NPC1_000085"	"g.21140432T>C"	""	""	""	"NPC1(NM_000271.4):c.644A>G (p.H215R), NPC1(NM_000271.5):c.644A>G (p.H215R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23560468T>C"	""	"benign"	""
"0000296586"	"0"	"50"	"18"	"21140408"	"21140408"	"subst"	"0"	"02325"	"NPC1_000084"	"g.21140408G>A"	""	""	""	"NPC1(NM_000271.5):c.668C>T (p.A223V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23560444G>A"	""	"VUS"	""
"0000296587"	"0"	"30"	"18"	"21153530"	"21153530"	"subst"	"0.00106418"	"02325"	"NPC1_000099"	"g.21153530T>C"	""	""	""	"NPC1(NM_000271.4):c.66A>G (p.S22=), NPC1(NM_000271.5):c.66A>G (p.S22=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23573566T>C"	""	"likely benign"	""
"0000298708"	"0"	"30"	"18"	"21136522"	"21136522"	"subst"	"0.000289387"	"02329"	"NPC1_000081"	"g.21136522C>A"	""	""	""	"NPC1(NM_000271.4):c.1011G>T (p.R337=), NPC1(NM_000271.5):c.1011G>T (p.R337=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23556558C>A"	""	"likely benign"	""
"0000298709"	"0"	"30"	"18"	"21134772"	"21134772"	"subst"	"0.00387043"	"02329"	"NPC1_000076"	"g.21134772G>A"	""	""	""	"NPC1(NM_000271.5):c.1503C>T (p.D501=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23554808G>A"	""	"likely benign"	""
"0000298710"	"0"	"30"	"18"	"21134743"	"21134743"	"subst"	"0.000674369"	"02329"	"NPC1_000075"	"g.21134743G>A"	""	""	""	"NPC1(NM_000271.5):c.1532C>T (p.T511M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23554779G>A"	""	"likely benign"	""
"0000298711"	"0"	"50"	"18"	"21153416"	"21153416"	"subst"	"0.000284317"	"02329"	"NPC1_000097"	"g.21153416C>A"	""	""	""	"NPC1(NM_000271.5):c.180G>T (p.Q60H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23573452C>A"	""	"VUS"	""
"0000298712"	"0"	"10"	"18"	"21124945"	"21124945"	"subst"	"0.727274"	"02329"	"NPC1_000069"	"g.21124945C>G"	""	""	""	"NPC1(NM_000271.5):c.1926G>C (p.M642I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23544981C>G"	""	"benign"	""
"0000298713"	"0"	"10"	"18"	"21124914"	"21124914"	"subst"	"0.00789406"	"02329"	"NPC1_000064"	"g.21124914C>G"	""	""	""	"NPC1(NM_000271.5):c.1947+10G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23544950C>G"	""	"benign"	""
"0000298719"	"0"	"30"	"18"	"21124906"	"21124907"	"ins"	"0"	"02329"	"NPC1_000053"	"g.21124906_21124907insCCCC"	""	""	""	"NPC1(NM_000271.5):c.1947+20_1947+21insGGGG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23544942_23544943insCCCC"	""	"likely benign"	""
"0000298721"	"0"	"10"	"18"	"21124916"	"21124916"	"del"	"0"	"02329"	"NPC1_000059"	"g.21124916del"	""	""	""	"NPC1(NM_000271.5):c.1947+16delG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23544952del"	""	"benign"	""
"0000298725"	"0"	"30"	"18"	"21124365"	"21124365"	"subst"	"0.00537316"	"02329"	"NPC1_000047"	"g.21124365C>T"	""	""	""	"NPC1(NM_000271.4):c.2073G>A (p.P691=), NPC1(NM_000271.5):c.2073G>A (p.P691=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23544401C>T"	""	"likely benign"	""
"0000298726"	"0"	"10"	"18"	"21123553"	"21123554"	"del"	"0"	"02329"	"NPC1_000042"	"g.21123553_21123554del"	""	""	""	"NPC1(NM_000271.4):c.2131-5_2131-4del (p.?), NPC1(NM_000271.4):c.2131-5_2131-4delTT, NPC1(NM_000271.5):c.2131-5_2131-4delTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23543589_23543590del"	""	"benign"	""
"0000298728"	"0"	"30"	"18"	"21123552"	"21123554"	"del"	"0"	"02329"	"NPC1_000044"	"g.21123552_21123554del"	""	""	""	"NPC1(NM_000271.5):c.2131-6_2131-4delTTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23543588_23543590del"	""	"likely benign"	""
"0000298730"	"0"	"30"	"18"	"21121375"	"21121375"	"subst"	"3.24915E-5"	"02329"	"NPC1_000040"	"g.21121375G>A"	""	""	""	"NPC1(NM_000271.4):c.2268C>T (p.A756=), NPC1(NM_000271.5):c.2268C>T (p.A756=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23541411G>A"	""	"likely benign"	""
"0000298731"	"0"	"10"	"18"	"21120444"	"21120444"	"subst"	"0.499935"	"02329"	"NPC1_000009"	"g.21120444T>C"	""	""	""	"NPC1(NM_000271.4):c.2572A>G (p.I858V), NPC1(NM_000271.5):c.2572A>G (p.I858V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23540480T>C"	""	"benign"	""
"0000298732"	"0"	"30"	"18"	"21120396"	"21120398"	"del"	"0"	"02329"	"NPC1_000039"	"g.21120396_21120398del"	""	""	""	"NPC1(NM_000271.5):c.2604+14_2604+16delCTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23540432_23540434del"	""	"likely benign"	""
"0000298733"	"0"	"30"	"18"	"21120395"	"21120398"	"del"	"0"	"02329"	"NPC1_000038"	"g.21120395_21120398del"	""	""	""	"NPC1(NM_000271.5):c.2604+14_2604+17delCTTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23540431_23540434del"	""	"likely benign"	""
"0000298734"	"0"	"30"	"18"	"21116684"	"21116684"	"subst"	"0.00103561"	"02329"	"NPC1_000029"	"g.21116684G>A"	""	""	""	"NPC1(NM_000271.4):c.3198C>T (p.T1066=), NPC1(NM_000271.5):c.3198C>T (p.T1066=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23536720G>A"	""	"likely benign"	""
"0000298735"	"0"	"30"	"18"	"21116665"	"21116665"	"subst"	"0.00111714"	"02329"	"NPC1_000028"	"g.21116665C>T"	""	""	""	"NPC1(NM_000271.4):c.3217G>A (p.G1073S), NPC1(NM_000271.5):c.3217G>A (p.G1073S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23536701C>T"	""	"likely benign"	""
"0000298736"	"0"	"30"	"18"	"21115460"	"21115460"	"subst"	"0.000970549"	"02329"	"NPC1_000023"	"g.21115460G>A"	""	""	""	"NPC1(NM_000271.4):c.3450C>T (p.N1150=), NPC1(NM_000271.5):c.3450C>T (p.N1150=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23535496G>A"	""	"likely benign"	""
"0000298737"	"0"	"30"	"18"	"21115429"	"21115429"	"subst"	"0.000663147"	"02329"	"NPC1_000022"	"g.21115429T>C"	""	""	""	"NPC1(NM_000271.4):c.3477+4A>G, NPC1(NM_000271.5):c.3477+4A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23535465T>C"	""	"likely benign"	""
"0000298738"	"0"	"30"	"18"	"21114440"	"21114440"	"subst"	"0.00261548"	"02329"	"NPC1_000019"	"g.21114440C>A"	""	""	""	"NPC1(NM_000271.4):c.3561G>T (p.A1187=), NPC1(NM_000271.5):c.3561G>T (p.A1187=, p.(Ala1187=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23534476C>A"	""	"likely benign"	""
"0000298739"	"0"	"10"	"18"	"21112206"	"21112206"	"subst"	"0.0712626"	"02329"	"NPC1_000011"	"g.21112206C>T"	""	""	""	"NPC1(NM_000271.4):c.3797G>A (p.R1266Q), NPC1(NM_000271.5):c.3797G>A (p.R1266Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23532242C>T"	""	"benign"	""
"0000298740"	"0"	"30"	"18"	"21148768"	"21148768"	"subst"	"0.00222276"	"02329"	"NPC1_000089"	"g.21148768T>C"	""	""	""	"NPC1(NM_000271.5):c.463+19A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23568804T>C"	""	"likely benign"	""
"0000298741"	"0"	"30"	"18"	"21141415"	"21141415"	"subst"	"0.00466618"	"02329"	"NPC1_000088"	"g.21141415G>A"	""	""	""	"NPC1(NM_000271.4):c.540C>T (p.D180=), NPC1(NM_000271.5):c.540C>T (p.D180=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23561451G>A"	""	"likely benign"	""
"0000298742"	"0"	"50"	"18"	"21141324"	"21141324"	"subst"	"4.06095E-6"	"02329"	"NPC1_000086"	"g.21141324C>A"	""	""	""	"NPC1(NM_000271.5):c.631G>T (p.D211Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23561360C>A"	""	"VUS"	""
"0000298743"	"0"	"10"	"18"	"21140432"	"21140432"	"subst"	"0.332364"	"02329"	"NPC1_000085"	"g.21140432T>C"	""	""	""	"NPC1(NM_000271.4):c.644A>G (p.H215R), NPC1(NM_000271.5):c.644A>G (p.H215R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23560468T>C"	""	"benign"	""
"0000298744"	"0"	"30"	"18"	"21140411"	"21140411"	"subst"	"0.00333312"	"02329"	"NPC1_000001"	"g.21140411T>C"	""	""	""	"NPC1(NM_000271.4):c.665A>G (p.N222S), NPC1(NM_000271.5):c.665A>G (p.N222S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23560447T>C"	""	"likely benign"	""
"0000298745"	"0"	"10"	"18"	"21140367"	"21140367"	"subst"	"0.0100463"	"02329"	"NPC1_000083"	"g.21140367G>A"	""	""	""	"NPC1(NM_000271.4):c.709C>T (p.(Pro237Ser)), NPC1(NM_000271.5):c.709C>T (p.P237S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23560403G>A"	""	"benign"	""
"0000298746"	"0"	"30"	"18"	"21136567"	"21136567"	"subst"	"0.00363488"	"02329"	"NPC1_000082"	"g.21136567G>A"	""	""	""	"NPC1(NM_000271.5):c.966C>T (p.S322=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23556603G>A"	""	"likely benign"	""
"0000300314"	"0"	"30"	"18"	"21134772"	"21134772"	"subst"	"0.00387043"	"02326"	"NPC1_000076"	"g.21134772G>A"	""	""	""	"NPC1(NM_000271.5):c.1503C>T (p.D501=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23554808G>A"	""	"likely benign"	""
"0000300315"	"0"	"30"	"18"	"21152232"	"21152232"	"subst"	"0"	"02326"	"NPC1_000096"	"g.21152232T>C"	""	""	""	"NPC1(NM_000271.5):c.181-88A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23572268T>C"	""	"likely benign"	""
"0000300316"	"0"	"70"	"18"	"21124953"	"21124953"	"subst"	"0"	"02326"	"NPC1_000070"	"g.21124953C>T"	""	""	""	"NPC1(NM_000271.5):c.1918G>A (p.G640R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23544989C>T"	""	"likely pathogenic"	""
"0000300317"	"0"	"30"	"18"	"21124916"	"21124916"	"dup"	"0"	"02326"	"NPC1_000056"	"g.21124916dup"	""	""	""	"NPC1(NM_000271.4):c.1947+16dupG, NPC1(NM_000271.5):c.1947+16dupG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23544952dup"	""	"likely benign"	""
"0000300318"	"0"	"30"	"18"	"21124915"	"21124916"	"dup"	"0"	"02326"	"NPC1_000058"	"g.21124915_21124916dup"	""	""	""	"NPC1(NM_000271.5):c.1947+14_1947+15dupGG, NPC1(NM_000271.5):c.1947+15_1947+16dupGG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23544951_23544952dup"	""	"likely benign"	""
"0000300321"	"0"	"10"	"18"	"21123553"	"21123554"	"del"	"0"	"02326"	"NPC1_000042"	"g.21123553_21123554del"	""	""	""	"NPC1(NM_000271.4):c.2131-5_2131-4del (p.?), NPC1(NM_000271.4):c.2131-5_2131-4delTT, NPC1(NM_000271.5):c.2131-5_2131-4delTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23543589_23543590del"	""	"benign"	""
"0000300322"	"0"	"10"	"18"	"21123554"	"21123554"	"del"	"0"	"02326"	"NPC1_000045"	"g.21123554del"	""	""	""	"NPC1(NM_000271.4):c.2131-4del (p.?), NPC1(NM_000271.4):c.2131-4delT, NPC1(NM_000271.5):c.2131-4delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23543590del"	""	"benign"	""
"0000300323"	"0"	"10"	"18"	"21123554"	"21123554"	"dup"	"0"	"02326"	"NPC1_000043"	"g.21123554dup"	""	""	""	"NPC1(NM_000271.5):c.2131-4dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23543590dup"	""	"benign"	""
"0000300324"	"0"	"30"	"18"	"21120006"	"21120006"	"subst"	"0"	"02326"	"NPC1_000036"	"g.21120006C>T"	""	""	""	"NPC1(NM_000271.5):c.2605-41G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23540042C>T"	""	"likely benign"	""
"0000300325"	"0"	"70"	"18"	"21152050"	"21152050"	"subst"	"0"	"02326"	"NPC1_000095"	"g.21152050T>C"	""	""	""	"NPC1(NM_000271.4):c.275A>G (p.Q92R, p.(Gln92Arg)), NPC1(NM_000271.5):c.275A>G (p.Q92R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23572086T>C"	""	"likely pathogenic"	""
"0000300326"	"0"	"30"	"18"	"21149006"	"21149006"	"subst"	"0"	"02326"	"NPC1_000094"	"g.21149006T>A"	""	""	""	"NPC1(NM_000271.5):c.288-44A>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23569042T>A"	""	"likely benign"	""
"0000300327"	"0"	"10"	"18"	"21119247"	"21119247"	"subst"	"0"	"02326"	"NPC1_000033"	"g.21119247G>A"	""	""	""	"NPC1(NM_000271.5):c.2911+72C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23539283G>A"	""	"benign"	""
"0000304398"	"0"	"10"	"18"	"21166329"	"21166329"	"subst"	"0.0681852"	"01943"	"NPC1_000100"	"g.21166329T>G"	""	""	""	"NPC1(NM_000271.4):c.-22A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23586365T>G"	""	"benign"	""
"0000304399"	"0"	"10"	"18"	"21136462"	"21136462"	"subst"	"0.000642653"	"01943"	"NPC1_000080"	"g.21136462C>T"	""	""	""	"NPC1(NM_000271.4):c.1071G>A (p.S357=), NPC1(NM_000271.5):c.1071G>A (p.S357=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23556498C>T"	""	"benign"	""
"0000304400"	"0"	"70"	"18"	"21136322"	"21136322"	"subst"	"3.25145E-5"	"01943"	"NPC1_000079"	"g.21136322C>T"	""	""	""	"NPC1(NM_000271.4):c.1211G>A (p.R404Q), NPC1(NM_000271.5):c.1211G>A (p.(Arg404Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23556358C>T"	""	"likely pathogenic"	""
"0000304401"	"0"	"50"	"18"	"21134723"	"21134723"	"subst"	"3.25428E-5"	"01943"	"NPC1_000074"	"g.21134723G>A"	""	""	""	"NPC1(NM_000271.4):c.1552C>T (p.R518W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23554759G>A"	""	"VUS"	""
"0000304404"	"0"	"30"	"18"	"21124916"	"21124916"	"subst"	"0.00076652"	"01943"	"NPC1_000068"	"g.21124916C>G"	""	""	""	"NPC1(NM_000271.4):c.1947+8G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23544952C>G"	""	"likely benign"	""
"0000304405"	"0"	"30"	"18"	"21124365"	"21124365"	"subst"	"0.00537316"	"01943"	"NPC1_000047"	"g.21124365C>T"	""	""	""	"NPC1(NM_000271.4):c.2073G>A (p.P691=), NPC1(NM_000271.5):c.2073G>A (p.P691=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23544401C>T"	""	"likely benign"	""
"0000304406"	"0"	"10"	"18"	"21120444"	"21120444"	"subst"	"0.499935"	"01943"	"NPC1_000009"	"g.21120444T>C"	""	""	""	"NPC1(NM_000271.4):c.2572A>G (p.I858V), NPC1(NM_000271.5):c.2572A>G (p.I858V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23540480T>C"	""	"benign"	""
"0000304407"	"0"	"10"	"18"	"21119839"	"21119839"	"subst"	"0.000901486"	"01943"	"NPC1_000035"	"g.21119839C>T"	""	""	""	"NPC1(NM_000271.4):c.2731G>A (p.G911S), NPC1(NM_000271.5):c.2731G>A (p.G911S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23539875C>T"	""	"benign"	""
"0000304408"	"0"	"30"	"18"	"21116684"	"21116684"	"subst"	"0.00103561"	"01943"	"NPC1_000029"	"g.21116684G>A"	""	""	""	"NPC1(NM_000271.4):c.3198C>T (p.T1066=), NPC1(NM_000271.5):c.3198C>T (p.T1066=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23536720G>A"	""	"likely benign"	""
"0000304409"	"0"	"90"	"18"	"21116653"	"21116653"	"subst"	"4.06392E-6"	"01943"	"NPC1_000027"	"g.21116653G>A"	""	""	""	"NPC1(NM_000271.4):c.3229C>T (p.R1077*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23536689G>A"	""	"pathogenic"	""
"0000304410"	"0"	"10"	"18"	"21115460"	"21115460"	"subst"	"0.000970549"	"01943"	"NPC1_000023"	"g.21115460G>A"	""	""	""	"NPC1(NM_000271.4):c.3450C>T (p.N1150=), NPC1(NM_000271.5):c.3450C>T (p.N1150=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23535496G>A"	""	"benign"	""
"0000304411"	"0"	"90"	"18"	"21148899"	"21148900"	"del"	"0"	"01943"	"NPC1_000003"	"g.21148899_21148900del"	""	""	""	"NPC1(NM_000271.4):c.352_353delAG (p.Q119Vfs*8)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23568935_23568936del"	""	"pathogenic"	""
"0000304412"	"0"	"30"	"18"	"21114440"	"21114440"	"subst"	"0.00261548"	"01943"	"NPC1_000019"	"g.21114440C>A"	""	""	""	"NPC1(NM_000271.4):c.3561G>T (p.A1187=), NPC1(NM_000271.5):c.3561G>T (p.A1187=, p.(Ala1187=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23534476C>A"	""	"likely benign"	""
"0000304413"	"0"	"90"	"18"	"21114409"	"21114409"	"subst"	"0"	"01943"	"NPC1_000018"	"g.21114409C>A"	""	""	""	"NPC1(NM_000271.4):c.3591+1G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23534445C>A"	""	"pathogenic"	""
"0000304414"	"0"	"10"	"18"	"21113475"	"21113475"	"subst"	"0.000848869"	"01943"	"NPC1_000017"	"g.21113475T>C"	""	""	""	"NPC1(NM_000271.4):c.3598A>G (p.S1200G), NPC1(NM_000271.5):c.3598A>G (p.S1200G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23533511T>C"	""	"benign"	""
"0000304415"	"0"	"30"	"18"	"21113356"	"21113356"	"subst"	"0.000568556"	"01943"	"NPC1_000016"	"g.21113356G>A"	""	""	""	"NPC1(NM_000271.4):c.3717C>T (p.H1239=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23533392G>A"	""	"likely benign"	""
"0000304417"	"0"	"10"	"18"	"21112206"	"21112206"	"subst"	"0.0712626"	"01943"	"NPC1_000011"	"g.21112206C>T"	""	""	""	"NPC1(NM_000271.4):c.3797G>A (p.R1266Q), NPC1(NM_000271.5):c.3797G>A (p.R1266Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23532242C>T"	""	"benign"	""
"0000304418"	"0"	"50"	"18"	"21148805"	"21148805"	"subst"	"0.000751501"	"01943"	"NPC1_000090"	"g.21148805C>T"	""	""	""	"NPC1(NM_000271.4):c.445G>A (p.G149R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23568841C>T"	""	"VUS"	""
"0000304419"	"0"	"10"	"18"	"21141415"	"21141415"	"subst"	"0.00466618"	"01943"	"NPC1_000088"	"g.21141415G>A"	""	""	""	"NPC1(NM_000271.4):c.540C>T (p.D180=), NPC1(NM_000271.5):c.540C>T (p.D180=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23561451G>A"	""	"benign"	""
"0000304420"	"0"	"10"	"18"	"21140432"	"21140432"	"subst"	"0.332364"	"01943"	"NPC1_000085"	"g.21140432T>C"	""	""	""	"NPC1(NM_000271.4):c.644A>G (p.H215R), NPC1(NM_000271.5):c.644A>G (p.H215R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23560468T>C"	""	"benign"	""
"0000304421"	"0"	"30"	"18"	"21140411"	"21140411"	"subst"	"0.00333312"	"01943"	"NPC1_000001"	"g.21140411T>C"	""	""	""	"NPC1(NM_000271.4):c.665A>G (p.N222S), NPC1(NM_000271.5):c.665A>G (p.N222S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23560447T>C"	""	"likely benign"	""
"0000325859"	"0"	"50"	"18"	"21141414"	"21141414"	"subst"	"0.000113705"	"01804"	"NPC1_000087"	"g.21141414C>T"	""	""	""	"NPC1(NM_000271.5):c.541G>A (p.(Ala181Thr), p.A181T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23561450C>T"	""	"VUS"	""
"0000340710"	"0"	"10"	"18"	"21119777"	"21119777"	"subst"	"0.499024"	"02327"	"NPC1_000010"	"g.21119777G>A"	""	""	""	"NPC1(NM_000271.4):c.2793C>T (p.N931=), NPC1(NM_000271.5):c.2793C>T (p.N931=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23539813G>A"	""	"benign"	""
"0000344213"	"0"	"70"	"18"	"21119400"	"21119400"	"subst"	"1.22413E-5"	"02327"	"NPC1_000102"	"g.21119400C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23539436C>T"	""	"likely pathogenic"	""
"0000345739"	"0"	"50"	"18"	"21148805"	"21148805"	"subst"	"0.000751501"	"02327"	"NPC1_000090"	"g.21148805C>T"	""	""	""	"NPC1(NM_000271.4):c.445G>A (p.G149R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23568841C>T"	""	"VUS"	""
"0000346409"	"0"	"10"	"18"	"21140432"	"21140432"	"subst"	"0.332364"	"02327"	"NPC1_000085"	"g.21140432T>C"	""	""	""	"NPC1(NM_000271.4):c.644A>G (p.H215R), NPC1(NM_000271.5):c.644A>G (p.H215R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23560468T>C"	""	"benign"	""
"0000346816"	"0"	"10"	"18"	"21120444"	"21120444"	"subst"	"0.499935"	"02327"	"NPC1_000009"	"g.21120444T>C"	""	""	""	"NPC1(NM_000271.4):c.2572A>G (p.I858V), NPC1(NM_000271.5):c.2572A>G (p.I858V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23540480T>C"	""	"benign"	""
"0000347877"	"0"	"10"	"18"	"21124945"	"21124945"	"subst"	"0.727274"	"02327"	"NPC1_000069"	"g.21124945C>G"	""	""	""	"NPC1(NM_000271.5):c.1926G>C (p.M642I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23544981C>G"	""	"benign"	""
"0000348111"	"0"	"90"	"18"	"21118528"	"21118528"	"subst"	"0.000117761"	"02327"	"NPC1_000101"	"g.21118528G>C"	""	""	""	"NPC1(NM_000271.4):c.3019C>G (p.P1007A), NPC1(NM_000271.5):c.3019C>G (p.P1007A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23538564G>C"	""	"pathogenic"	""
"0000348305"	"0"	"10"	"18"	"21140367"	"21140367"	"subst"	"0.0100463"	"02327"	"NPC1_000083"	"g.21140367G>A"	""	""	""	"NPC1(NM_000271.4):c.709C>T (p.(Pro237Ser)), NPC1(NM_000271.5):c.709C>T (p.P237S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23560403G>A"	""	"benign"	""
"0000369839"	"21"	"90"	"18"	"21113351"	"21113351"	"subst"	"0"	"02519"	"NPC1_000104"	"g.21113351A>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.23533387A>G"	""	"pathogenic"	""
"0000369914"	"21"	"90"	"18"	"21153437"	"21153437"	"dup"	"0"	"02519"	"NPC1_000103"	"g.21153437dup"	""	""	""	"160_161insG"	""	"Germline"	""	""	"0"	""	""	"g.23573473dup"	""	"pathogenic"	""
"0000369916"	"21"	"90"	"18"	"21153437"	"21153437"	"dup"	"0"	"02519"	"NPC1_000103"	"g.21153437dup"	""	""	""	"160_161insG"	""	"Germline"	""	""	"0"	""	""	"g.23573473dup"	""	"pathogenic"	""
"0000406021"	"11"	"50"	"18"	"21141461"	"21141461"	"subst"	"0"	"02552"	"NPC1_000105"	"g.21141461G>T"	""	"{PMID:Papuc 2019:30552426}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23561497G>T"	""	"VUS"	""
"0000439864"	"0"	"50"	"18"	"21124945"	"21124945"	"subst"	"0.727274"	"03131"	"NPC1_000069"	"g.21124945C>G"	""	""	""	""	""	"Germline"	"yes"	"rs1788799"	"0"	""	""	"g.23544981C>G"	""	"VUS"	""
"0000564105"	"0"	"30"	"18"	"21112263"	"21112264"	"dup"	"0"	"01943"	"NPC1_000106"	"g.21112263_21112264dup"	""	""	""	"NPC1(NM_000271.4):c.3755-6_3755-5dupTC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23532299_23532300dup"	""	"likely benign"	""
"0000564106"	"0"	"30"	"18"	"21113322"	"21113322"	"subst"	"0"	"01804"	"NPC1_000107"	"g.21113322T>C"	""	""	""	"NPC1(NM_000271.4):c.3751A>G (p.(Ile1251Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23533358T>C"	""	"likely benign"	""
"0000564107"	"0"	"30"	"18"	"21113349"	"21113349"	"subst"	"2.03056E-5"	"01943"	"NPC1_000108"	"g.21113349T>C"	""	""	""	"NPC1(NM_000271.4):c.3724A>G (p.I1242V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23533385T>C"	""	"likely benign"	""
"0000564108"	"0"	"90"	"18"	"21113459"	"21113459"	"subst"	"4.06124E-6"	"01943"	"NPC1_000109"	"g.21113459G>T"	""	""	""	"NPC1(NM_000271.4):c.3614C>A (p.T1205K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23533495G>T"	""	"pathogenic"	""
"0000564109"	"0"	"10"	"18"	"21113475"	"21113475"	"subst"	"0.000848869"	"02329"	"NPC1_000017"	"g.21113475T>C"	""	""	""	"NPC1(NM_000271.4):c.3598A>G (p.S1200G), NPC1(NM_000271.5):c.3598A>G (p.S1200G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23533511T>C"	""	"benign"	""
"0000564110"	"0"	"30"	"18"	"21114466"	"21114466"	"subst"	"0.00106052"	"02329"	"NPC1_000110"	"g.21114466T>C"	""	""	""	"NPC1(NM_000271.5):c.3535A>G (p.M1179V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23534502T>C"	""	"likely benign"	""
"0000564111"	"0"	"50"	"18"	"21115429"	"21115429"	"subst"	"0.000663147"	"01943"	"NPC1_000022"	"g.21115429T>C"	""	""	""	"NPC1(NM_000271.4):c.3477+4A>G, NPC1(NM_000271.5):c.3477+4A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23535465T>C"	""	"VUS"	""
"0000564112"	"0"	"30"	"18"	"21115460"	"21115460"	"subst"	"0.000970549"	"02330"	"NPC1_000023"	"g.21115460G>A"	""	""	""	"NPC1(NM_000271.4):c.3450C>T (p.N1150=), NPC1(NM_000271.5):c.3450C>T (p.N1150=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23535496G>A"	""	"likely benign"	""
"0000564114"	"0"	"50"	"18"	"21115567"	"21115567"	"subst"	"0.00066599"	"01943"	"NPC1_000112"	"g.21115567C>A"	""	""	""	"NPC1(NM_000271.4):c.3343G>T (p.V1115F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23535603C>A"	""	"VUS"	""
"0000564115"	"0"	"30"	"18"	"21115579"	"21115579"	"subst"	"0.00139288"	"01943"	"NPC1_000025"	"g.21115579G>A"	""	""	""	"NPC1(NM_000271.4):c.3331C>T (p.L1111=), NPC1(NM_000271.5):c.3331C>T (p.L1111=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23535615G>A"	""	"likely benign"	""
"0000564116"	"0"	"30"	"18"	"21116665"	"21116665"	"subst"	"0.00111714"	"01943"	"NPC1_000028"	"g.21116665C>T"	""	""	""	"NPC1(NM_000271.4):c.3217G>A (p.G1073S), NPC1(NM_000271.5):c.3217G>A (p.G1073S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23536701C>T"	""	"likely benign"	""
"0000564117"	"0"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"01943"	"NPC1_000030"	"g.21116700A>G"	""	""	""	"NPC1(NM_000271.4):c.3182T>C (p.I1061T), NPC1(NM_000271.5):c.3182T>C (p.I1061T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23536736A>G"	""	"pathogenic"	""
"0000564118"	"0"	"70"	"18"	"21118528"	"21118528"	"subst"	"0.000117761"	"01943"	"NPC1_000101"	"g.21118528G>C"	""	""	""	"NPC1(NM_000271.4):c.3019C>G (p.P1007A), NPC1(NM_000271.5):c.3019C>G (p.P1007A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23538564G>C"	""	"likely pathogenic"	""
"0000564119"	"0"	"90"	"18"	"21118528"	"21118528"	"subst"	"0.000117761"	"02325"	"NPC1_000101"	"g.21118528G>C"	""	""	""	"NPC1(NM_000271.4):c.3019C>G (p.P1007A), NPC1(NM_000271.5):c.3019C>G (p.P1007A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23538564G>C"	""	"pathogenic"	""
"0000564120"	"0"	"70"	"18"	"21118528"	"21118528"	"subst"	"0.000117761"	"02329"	"NPC1_000101"	"g.21118528G>C"	""	""	""	"NPC1(NM_000271.4):c.3019C>G (p.P1007A), NPC1(NM_000271.5):c.3019C>G (p.P1007A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23538564G>C"	""	"likely pathogenic"	""
"0000564121"	"0"	"30"	"18"	"21118535"	"21118535"	"subst"	"7.71561E-5"	"01943"	"NPC1_000113"	"g.21118535C>T"	""	""	""	"NPC1(NM_000271.4):c.3012G>A (p.S1004=), NPC1(NM_000271.5):c.3012G>A (p.S1004=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23538571C>T"	""	"likely benign"	""
"0000564122"	"0"	"30"	"18"	"21118535"	"21118535"	"subst"	"7.71561E-5"	"02325"	"NPC1_000113"	"g.21118535C>T"	""	""	""	"NPC1(NM_000271.4):c.3012G>A (p.S1004=), NPC1(NM_000271.5):c.3012G>A (p.S1004=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23538571C>T"	""	"likely benign"	""
"0000564123"	"0"	"50"	"18"	"21118535"	"21118535"	"subst"	"7.71561E-5"	"02329"	"NPC1_000113"	"g.21118535C>T"	""	""	""	"NPC1(NM_000271.4):c.3012G>A (p.S1004=), NPC1(NM_000271.5):c.3012G>A (p.S1004=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23538571C>T"	""	"VUS"	""
"0000564124"	"0"	"10"	"18"	"21119291"	"21119291"	"subst"	"0.524922"	"01943"	"NPC1_000114"	"g.21119291A>G"	""	""	""	"NPC1(NM_000271.4):c.2911+28T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23539327A>G"	""	"benign"	""
"0000564125"	"0"	"90"	"18"	"21119369"	"21119369"	"subst"	"7.31999E-5"	"02325"	"NPC1_000002"	"g.21119369G>A"	""	""	""	"NPC1(NM_000271.5):c.2861C>T (p.S954L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23539405G>A"	""	"pathogenic"	""
"0000564126"	"0"	"10"	"18"	"21119756"	"21119756"	"subst"	"0.00362611"	"02330"	"NPC1_000034"	"g.21119756A>G"	""	""	""	"NPC1(NM_000271.5):c.2795+19T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23539792A>G"	""	"benign"	""
"0000564127"	"0"	"10"	"18"	"21119777"	"21119777"	"subst"	"0.499024"	"02330"	"NPC1_000010"	"g.21119777G>A"	""	""	""	"NPC1(NM_000271.4):c.2793C>T (p.N931=), NPC1(NM_000271.5):c.2793C>T (p.N931=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23539813G>A"	""	"benign"	""
"0000564128"	"0"	"10"	"18"	"21119777"	"21119777"	"subst"	"0.499024"	"01943"	"NPC1_000010"	"g.21119777G>A"	""	""	""	"NPC1(NM_000271.4):c.2793C>T (p.N931=), NPC1(NM_000271.5):c.2793C>T (p.N931=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23539813G>A"	""	"benign"	""
"0000564129"	"0"	"10"	"18"	"21119777"	"21119777"	"subst"	"0.499024"	"02325"	"NPC1_000010"	"g.21119777G>A"	""	""	""	"NPC1(NM_000271.4):c.2793C>T (p.N931=), NPC1(NM_000271.5):c.2793C>T (p.N931=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23539813G>A"	""	"benign"	""
"0000564130"	"0"	"10"	"18"	"21119777"	"21119777"	"subst"	"0.499024"	"02329"	"NPC1_000010"	"g.21119777G>A"	""	""	""	"NPC1(NM_000271.4):c.2793C>T (p.N931=), NPC1(NM_000271.5):c.2793C>T (p.N931=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23539813G>A"	""	"benign"	""
"0000564131"	"0"	"10"	"18"	"21119909"	"21119909"	"subst"	"0.00145794"	"01943"	"NPC1_000115"	"g.21119909C>T"	""	""	""	"NPC1(NM_000271.4):c.2661G>A (p.P887=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23539945C>T"	""	"benign"	""
"0000564132"	"0"	"90"	"18"	"21119949"	"21119949"	"subst"	"5.2803E-5"	"02329"	"NPC1_000116"	"g.21119949T>A"	""	""	""	"NPC1(NM_000271.5):c.2621A>T (p.D874V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23539985T>A"	""	"pathogenic"	""
"0000564133"	"0"	"10"	"18"	"21121026"	"21121026"	"subst"	"0.00371655"	"02330"	"NPC1_000117"	"g.21121026G>A"	""	""	""	"NPC1(NM_000271.5):c.2514+6C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23541062G>A"	""	"benign"	""
"0000564134"	"0"	"30"	"18"	"21121026"	"21121026"	"subst"	"0.00371655"	"02329"	"NPC1_000117"	"g.21121026G>A"	""	""	""	"NPC1(NM_000271.5):c.2514+6C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23541062G>A"	""	"likely benign"	""
"0000564135"	"0"	"50"	"18"	"21121045"	"21121045"	"subst"	"0.000239606"	"01804"	"NPC1_000118"	"g.21121045A>G"	""	""	""	"NPC1(NM_000271.5):c.2501T>C (p.(Met834Thr), p.M834T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23541081A>G"	""	"VUS"	""
"0000564136"	"0"	"90"	"18"	"21121072"	"21121072"	"subst"	"1.2183E-5"	"02330"	"NPC1_000119"	"g.21121072T>C"	""	""	""	"NPC1(NM_000271.4):c.2474A>G (p.Y825C), NPC1(NM_000271.5):c.2474A>G (p.Y825C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23541108T>C"	""	"pathogenic"	""
"0000564137"	"0"	"70"	"18"	"21121072"	"21121072"	"subst"	"1.2183E-5"	"01943"	"NPC1_000119"	"g.21121072T>C"	""	""	""	"NPC1(NM_000271.4):c.2474A>G (p.Y825C), NPC1(NM_000271.5):c.2474A>G (p.Y825C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23541108T>C"	""	"likely pathogenic"	""
"0000564138"	"0"	"90"	"18"	"21121072"	"21121072"	"subst"	"1.2183E-5"	"02325"	"NPC1_000119"	"g.21121072T>C"	""	""	""	"NPC1(NM_000271.4):c.2474A>G (p.Y825C), NPC1(NM_000271.5):c.2474A>G (p.Y825C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23541108T>C"	""	"pathogenic"	""
"0000564139"	"0"	"50"	"18"	"21121118"	"21121118"	"subst"	"0.000235537"	"02330"	"NPC1_000120"	"g.21121118C>T"	""	""	""	"NPC1(NM_000271.4):c.2428G>A (p.V810I), NPC1(NM_000271.5):c.2428G>A (p.V810I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23541154C>T"	""	"VUS"	""
"0000564140"	"0"	"30"	"18"	"21121259"	"21121259"	"subst"	"0"	"02329"	"NPC1_000121"	"g.21121259C>T"	""	""	""	"NPC1(NM_000271.5):c.2373+11G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23541295C>T"	""	"likely benign"	""
"0000564141"	"0"	"30"	"18"	"21123553"	"21123554"	"del"	"0"	"01804"	"NPC1_000042"	"g.21123553_21123554del"	""	""	""	"NPC1(NM_000271.4):c.2131-5_2131-4del (p.?), NPC1(NM_000271.4):c.2131-5_2131-4delTT, NPC1(NM_000271.5):c.2131-5_2131-4delTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23543589_23543590del"	""	"likely benign"	""
"0000564142"	"0"	"10"	"18"	"21123554"	"21123554"	"del"	"0"	"01804"	"NPC1_000041"	"g.21123554del"	""	""	""	"NPC1(NM_000271.4):c.2131-4del (p.?), NPC1(NM_000271.4):c.2131-4delT, NPC1(NM_000271.5):c.2131-4delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23543590del"	""	"benign"	""
"0000564143"	"0"	"30"	"18"	"21123554"	"21123554"	"dup"	"0"	"02330"	"NPC1_000043"	"g.21123554dup"	""	""	""	"NPC1(NM_000271.5):c.2131-4dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23543590dup"	""	"likely benign"	""
"0000564144"	"0"	"30"	"18"	"21123554"	"21123554"	"dup"	"0"	"02329"	"NPC1_000043"	"g.21123554dup"	""	""	""	"NPC1(NM_000271.5):c.2131-4dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23543590dup"	""	"likely benign"	""
"0000564145"	"0"	"50"	"18"	"21124342"	"21124342"	"subst"	"0"	"02325"	"NPC1_000122"	"g.21124342A>G"	""	""	""	"NPC1(NM_000271.5):c.2096T>C (p.V699A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23544378A>G"	""	"VUS"	""
"0000564146"	"0"	"30"	"18"	"21124906"	"21124907"	"ins"	"0"	"02329"	"NPC1_000123"	"g.21124906_21124907insCCCCC"	""	""	""	"NPC1(NM_000271.5):c.1947+20_1947+21insGGGGG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23544942_23544943insCCCCC"	""	"likely benign"	""
"0000564147"	"0"	"30"	"18"	"21124907"	"21124907"	"subst"	"0"	"02330"	"NPC1_000055"	"g.21124907A>C"	""	""	""	"NPC1(NM_000271.5):c.1947+17T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23544943A>C"	""	"likely benign"	""
"0000564148"	"0"	"30"	"18"	"21124909"	"21124910"	"ins"	"0"	"02329"	"NPC1_000124"	"g.21124909_21124910insAC"	""	""	""	"NPC1(NM_000271.5):c.1947+15_1947+16insTG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23544945_23544946insAC"	""	"likely benign"	""
"0000564149"	"0"	"10"	"18"	"21124909"	"21124910"	"ins"	"0.0035637"	"02330"	"NPC1_000062"	"g.21124909_21124910insG"	""	""	""	"NPC1(NM_000271.5):c.1947+14_1947+15insC, NPC1(NM_000271.5):c.1947+14delGinsGC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23544945_23544946insG"	""	"benign"	""
"0000564150"	"0"	"30"	"18"	"21124909"	"21124910"	"ins"	"0"	"02329"	"NPC1_000125"	"g.21124909_21124910insGC"	""	""	""	"NPC1(NM_000271.5):c.1947+15_1947+16insCG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23544945_23544946insGC"	""	"likely benign"	""
"0000564151"	"0"	"10"	"18"	"21124910"	"21124910"	"subst"	"0.0440458"	"02330"	"NPC1_000126"	"g.21124910C>A"	""	""	""	"NPC1(NM_000271.4):c.1947+14G>T, NPC1(NM_000271.5):c.1947+14G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23544946C>A"	""	"benign"	""
"0000564152"	"0"	"10"	"18"	"21124910"	"21124910"	"subst"	"0.0440458"	"01943"	"NPC1_000126"	"g.21124910C>A"	""	""	""	"NPC1(NM_000271.4):c.1947+14G>T, NPC1(NM_000271.5):c.1947+14G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23544946C>A"	""	"benign"	""
"0000564153"	"0"	"10"	"18"	"21124910"	"21124910"	"subst"	"0.0440458"	"02329"	"NPC1_000126"	"g.21124910C>A"	""	""	""	"NPC1(NM_000271.4):c.1947+14G>T, NPC1(NM_000271.5):c.1947+14G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23544946C>A"	""	"benign"	""
"0000564154"	"0"	"30"	"18"	"21124911"	"21124912"	"ins"	"0"	"02329"	"NPC1_000127"	"g.21124911_21124912insACC"	""	""	""	"NPC1(NM_000271.5):c.1947+14_1947+15insTGG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23544947_23544948insACC"	""	"likely benign"	""
"0000564155"	"0"	"30"	"18"	"21124912"	"21124916"	"dup"	"0"	"02326"	"NPC1_000128"	"g.21124912_21124916dup"	""	""	""	"NPC1(NM_000271.5):c.1947+12_1947+16dupGGGGG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23544948_23544952dup"	""	"likely benign"	""
"0000564156"	"0"	"30"	"18"	"21124912"	"21124916"	"dup"	"0"	"02329"	"NPC1_000128"	"g.21124912_21124916dup"	""	""	""	"NPC1(NM_000271.5):c.1947+12_1947+16dupGGGGG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23544948_23544952dup"	""	"likely benign"	""
"0000564157"	"0"	"30"	"18"	"21124913"	"21124916"	"dup"	"0"	"02330"	"NPC1_000129"	"g.21124913_21124916dup"	""	""	""	"NPC1(NM_000271.4):c.1947+13_1947+16dupGGGG, NPC1(NM_000271.5):c.1947+13_1947+16dupGGGG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23544949_23544952dup"	""	"likely benign"	""
"0000564158"	"0"	"10"	"18"	"21124913"	"21124916"	"dup"	"0"	"01943"	"NPC1_000129"	"g.21124913_21124916dup"	""	""	""	"NPC1(NM_000271.4):c.1947+13_1947+16dupGGGG, NPC1(NM_000271.5):c.1947+13_1947+16dupGGGG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23544949_23544952dup"	""	"benign"	""
"0000564159"	"0"	"10"	"18"	"21124913"	"21124916"	"dup"	"0"	"02326"	"NPC1_000129"	"g.21124913_21124916dup"	""	""	""	"NPC1(NM_000271.4):c.1947+13_1947+16dupGGGG, NPC1(NM_000271.5):c.1947+13_1947+16dupGGGG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23544949_23544952dup"	""	"benign"	""
"0000564160"	"0"	"10"	"18"	"21124913"	"21124916"	"dup"	"0"	"02329"	"NPC1_000129"	"g.21124913_21124916dup"	""	""	""	"NPC1(NM_000271.4):c.1947+13_1947+16dupGGGG, NPC1(NM_000271.5):c.1947+13_1947+16dupGGGG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23544949_23544952dup"	""	"benign"	""
"0000564162"	"0"	"10"	"18"	"21124914"	"21124914"	"subst"	"0.000742675"	"01943"	"NPC1_000131"	"g.21124914C>T"	""	""	""	"NPC1(NM_000271.4):c.1947+10G>A, NPC1(NM_000271.5):c.1947+10G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23544950C>T"	""	"benign"	""
"0000564163"	"0"	"30"	"18"	"21124914"	"21124916"	"dup"	"0"	"02330"	"NPC1_000065"	"g.21124914_21124916dup"	""	""	""	"NPC1(NM_000271.5):c.1947+14_1947+16dupGGG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23544950_23544952dup"	""	"likely benign"	""
"0000564164"	"0"	"10"	"18"	"21124914"	"21124916"	"dup"	"0"	"02326"	"NPC1_000065"	"g.21124914_21124916dup"	""	""	""	"NPC1(NM_000271.5):c.1947+14_1947+16dupGGG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23544950_23544952dup"	""	"benign"	""
"0000564165"	"0"	"10"	"18"	"21124914"	"21124916"	"dup"	"0"	"02329"	"NPC1_000065"	"g.21124914_21124916dup"	""	""	""	"NPC1(NM_000271.5):c.1947+14_1947+16dupGGG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23544950_23544952dup"	""	"benign"	""
"0000564167"	"0"	"30"	"18"	"21124915"	"21124916"	"dup"	"0"	"02330"	"NPC1_000058"	"g.21124915_21124916dup"	""	""	""	"NPC1(NM_000271.5):c.1947+14_1947+15dupGG, NPC1(NM_000271.5):c.1947+15_1947+16dupGG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23544951_23544952dup"	""	"likely benign"	""
"0000564168"	"0"	"30"	"18"	"21124915"	"21124916"	"dup"	"0"	"02325"	"NPC1_000058"	"g.21124915_21124916dup"	""	""	""	"NPC1(NM_000271.5):c.1947+14_1947+15dupGG, NPC1(NM_000271.5):c.1947+15_1947+16dupGG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23544951_23544952dup"	""	"likely benign"	""
"0000564169"	"0"	"10"	"18"	"21124915"	"21124916"	"dup"	"0"	"02329"	"NPC1_000058"	"g.21124915_21124916dup"	""	""	""	"NPC1(NM_000271.5):c.1947+14_1947+15dupGG, NPC1(NM_000271.5):c.1947+15_1947+16dupGG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23544951_23544952dup"	""	"benign"	""
"0000564170"	"0"	"10"	"18"	"21124915"	"21124916"	"ins"	"0"	"02330"	"NPC1_000133"	"g.21124915_21124916insACCC"	""	""	""	"NPC1(NM_000271.5):c.1947+11_1947+12insTGGG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23544951_23544952insACCC"	""	"benign"	""
"0000564171"	"0"	"30"	"18"	"21124916"	"21124917"	"ins"	"0"	"02329"	"NPC1_000134"	"g.21124916_21124917insCCCCCCCCCC"	""	""	""	"NPC1(NM_000271.5):c.1947+17_1947+18insGGGGGGGGGG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23544952_23544953insCCCCCCCCCC"	""	"likely benign"	""
"0000564172"	"0"	"30"	"18"	"21124916"	"21124917"	"ins"	"0.000546305"	"01943"	"NPC1_000135"	"g.21124916_21124917insCCCCG"	""	""	""	"NPC1(NM_000271.4):c.1947+7_1947+8insCGGGG, NPC1(NM_000271.5):c.1947+7_1947+8insCGGGG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23544952_23544953insCCCCG"	""	"likely benign"	""
"0000564173"	"0"	"30"	"18"	"21124916"	"21124917"	"ins"	"0.00215981"	"02329"	"NPC1_000136"	"g.21124916_21124917insCCCG"	""	""	""	"NPC1(NM_000271.4):c.1947+7_1947+8insCGGG, NPC1(NM_000271.4):c.1947+7_1947+8insCGGG (p.(=)), NPC1(NM_000271.5):c.1947+7_1947+8insCGGG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23544952_23544953insCCCG"	""	"likely benign"	""
"0000564174"	"0"	"30"	"18"	"21124916"	"21124917"	"ins"	"0.000182102"	"02329"	"NPC1_000137"	"g.21124916_21124917insCG"	""	""	""	"NPC1(NM_000271.5):c.1947+7_1947+8insCG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23544952_23544953insCG"	""	"likely benign"	""
"0000564175"	"0"	"30"	"18"	"21124916"	"21124916"	"dup"	"0"	"02330"	"NPC1_000056"	"g.21124916dup"	""	""	""	"NPC1(NM_000271.4):c.1947+16dupG, NPC1(NM_000271.5):c.1947+16dupG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23544952dup"	""	"likely benign"	""
"0000564176"	"0"	"10"	"18"	"21124916"	"21124916"	"dup"	"0"	"01943"	"NPC1_000056"	"g.21124916dup"	""	""	""	"NPC1(NM_000271.4):c.1947+16dupG, NPC1(NM_000271.5):c.1947+16dupG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23544952dup"	""	"benign"	""
"0000564177"	"0"	"10"	"18"	"21124916"	"21124916"	"dup"	"0"	"02329"	"NPC1_000056"	"g.21124916dup"	""	""	""	"NPC1(NM_000271.4):c.1947+16dupG, NPC1(NM_000271.5):c.1947+16dupG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23544952dup"	""	"benign"	""
"0000564178"	"0"	"30"	"18"	"21124934"	"21124934"	"subst"	"6.518E-5"	"02325"	"NPC1_000138"	"g.21124934C>T"	""	""	""	"NPC1(NM_000271.5):c.1937G>A (p.R646H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23544970C>T"	""	"likely benign"	""
"0000564179"	"0"	"50"	"18"	"21125013"	"21125013"	"subst"	"0"	"01943"	"NPC1_000139"	"g.21125013C>T"	""	""	""	"NPC1(NM_000271.4):c.1858G>A (p.D620N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23545049C>T"	""	"VUS"	""
"0000564180"	"0"	"50"	"18"	"21131586"	"21131586"	"subst"	"4.0654E-6"	"02327"	"NPC1_000140"	"g.21131586C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23551622C>T"	""	"VUS"	""
"0000564181"	"0"	"30"	"18"	"21131664"	"21131664"	"subst"	"4.06573E-5"	"01804"	"NPC1_000141"	"g.21131664A>T"	""	""	""	"NPC1(NM_000271.4):c.1581T>A (p.(Ser527Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23551700A>T"	""	"likely benign"	""
"0000564182"	"0"	"70"	"18"	"21131671"	"21131671"	"subst"	"4.06659E-6"	"02325"	"NPC1_000142"	"g.21131671T>A"	""	""	""	"NPC1(NM_000271.5):c.1574A>T (p.D525V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23551707T>A"	""	"likely pathogenic"	""
"0000564183"	"0"	"70"	"18"	"21134722"	"21134722"	"subst"	"4.06878E-6"	"02327"	"NPC1_000143"	"g.21134722C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23554758C>T"	""	"likely pathogenic"	""
"0000564184"	"0"	"30"	"18"	"21134795"	"21134795"	"subst"	"0.000146204"	"01943"	"NPC1_000144"	"g.21134795C>T"	""	""	""	"NPC1(NM_000271.4):c.1480G>A (p.V494M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23554831C>T"	""	"likely benign"	""
"0000564185"	"0"	"10"	"18"	"21136233"	"21136233"	"subst"	"0.00314412"	"02330"	"NPC1_000145"	"g.21136233G>A"	""	""	""	"NPC1(NM_000271.5):c.1300C>T (p.P434S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23556269G>A"	""	"benign"	""
"0000564186"	"0"	"50"	"18"	"21136259"	"21136259"	"subst"	"1.21864E-5"	"01943"	"NPC1_000146"	"g.21136259G>A"	""	""	""	"NPC1(NM_000271.4):c.1274C>T (p.S425L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23556295G>A"	""	"VUS"	""
"0000564187"	"0"	"30"	"18"	"21136301"	"21136301"	"subst"	"0.000499935"	"02329"	"NPC1_000147"	"g.21136301C>T"	""	""	""	"NPC1(NM_000271.5):c.1232G>A (p.R411Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23556337C>T"	""	"likely benign"	""
"0000564189"	"0"	"30"	"18"	"21136416"	"21136416"	"subst"	"0"	"01943"	"NPC1_000149"	"g.21136416C>T"	""	""	""	"NPC1(NM_000271.4):c.1117G>A (p.V373I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23556452C>T"	""	"likely benign"	""
"0000564190"	"0"	"10"	"18"	"21136522"	"21136522"	"subst"	"0.000289387"	"02330"	"NPC1_000081"	"g.21136522C>A"	""	""	""	"NPC1(NM_000271.4):c.1011G>T (p.R337=), NPC1(NM_000271.5):c.1011G>T (p.R337=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23556558C>A"	""	"benign"	""
"0000564191"	"0"	"10"	"18"	"21136567"	"21136567"	"subst"	"0.00363488"	"02330"	"NPC1_000082"	"g.21136567G>A"	""	""	""	"NPC1(NM_000271.5):c.966C>T (p.S322=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23556603G>A"	""	"benign"	""
"0000564192"	"0"	"50"	"18"	"21136574"	"21136574"	"subst"	"0"	"01943"	"NPC1_000150"	"g.21136574T>C"	""	""	""	"NPC1(NM_000271.4):c.959A>G (p.E320G), NPC1(NM_000271.5):c.959A>G (p.E320G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23556610T>C"	""	"VUS"	""
"0000564193"	"0"	"30"	"18"	"21136584"	"21136584"	"subst"	"8.19692E-6"	"02329"	"NPC1_000151"	"g.21136584G>A"	""	""	""	"NPC1(NM_000271.5):c.956-7C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23556620G>A"	""	"likely benign"	""
"0000564194"	"0"	"50"	"18"	"21140271"	"21140271"	"subst"	"0"	"02325"	"NPC1_000152"	"g.21140271A>G"	""	""	""	"NPC1(NM_000271.5):c.805T>C (p.Y269H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23560307A>G"	""	"VUS"	""
"0000564195"	"0"	"50"	"18"	"21140301"	"21140301"	"subst"	"0"	"02325"	"NPC1_000153"	"g.21140301G>T"	""	""	""	"NPC1(NM_000271.5):c.775C>A (p.P259T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23560337G>T"	""	"VUS"	""
"0000564196"	"0"	"30"	"18"	"21140367"	"21140367"	"subst"	"0.0100463"	"01804"	"NPC1_000083"	"g.21140367G>A"	""	""	""	"NPC1(NM_000271.4):c.709C>T (p.(Pro237Ser)), NPC1(NM_000271.5):c.709C>T (p.P237S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23560403G>A"	""	"likely benign"	""
"0000564197"	"0"	"50"	"18"	"21140411"	"21140411"	"subst"	"0.00333312"	"02325"	"NPC1_000001"	"g.21140411T>C"	""	""	""	"NPC1(NM_000271.4):c.665A>G (p.N222S), NPC1(NM_000271.5):c.665A>G (p.N222S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23560447T>C"	""	"VUS"	""
"0000564198"	"0"	"50"	"18"	"21140411"	"21140411"	"subst"	"0.00333312"	"02326"	"NPC1_000001"	"g.21140411T>C"	""	""	""	"NPC1(NM_000271.4):c.665A>G (p.N222S), NPC1(NM_000271.5):c.665A>G (p.N222S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23560447T>C"	""	"VUS"	""
"0000564199"	"0"	"30"	"18"	"21141343"	"21141343"	"subst"	"0.00503168"	"01943"	"NPC1_000154"	"g.21141343G>A"	""	""	""	"NPC1(NM_000271.4):c.612C>T (p.T204=), NPC1(NM_000271.5):c.612C>T (p.T204=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23561379G>A"	""	"likely benign"	""
"0000564200"	"0"	"30"	"18"	"21141343"	"21141343"	"subst"	"0.00503168"	"02325"	"NPC1_000154"	"g.21141343G>A"	""	""	""	"NPC1(NM_000271.4):c.612C>T (p.T204=), NPC1(NM_000271.5):c.612C>T (p.T204=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23561379G>A"	""	"likely benign"	""
"0000564202"	"0"	"30"	"18"	"21141408"	"21141408"	"subst"	"7.71592E-5"	"02325"	"NPC1_000156"	"g.21141408C>T"	""	""	""	"NPC1(NM_000271.5):c.547G>A (p.A183T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23561444C>T"	""	"likely benign"	""
"0000564203"	"0"	"50"	"18"	"21141414"	"21141414"	"subst"	"0.000113705"	"02325"	"NPC1_000087"	"g.21141414C>T"	""	""	""	"NPC1(NM_000271.5):c.541G>A (p.(Ala181Thr), p.A181T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23561450C>T"	""	"VUS"	""
"0000564204"	"0"	"70"	"18"	"21141461"	"21141461"	"subst"	"0"	"02325"	"NPC1_000105"	"g.21141461G>T"	""	""	""	"NPC1(NM_000271.5):c.494C>A (p.A165D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23561497G>T"	""	"likely pathogenic"	""
"0000564205"	"0"	"30"	"18"	"21141484"	"21141484"	"subst"	"0.000117781"	"01943"	"NPC1_000157"	"g.21141484G>A"	""	""	""	"NPC1(NM_000271.4):c.471C>T (p.Y157=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23561520G>A"	""	"likely benign"	""
"0000564206"	"0"	"30"	"18"	"21148862"	"21148862"	"subst"	"1.21855E-5"	"01943"	"NPC1_000158"	"g.21148862C>T"	""	""	""	"NPC1(NM_000271.4):c.388G>A (p.V130I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23568898C>T"	""	"likely benign"	""
"0000564207"	"0"	"10"	"18"	"21148863"	"21148863"	"subst"	"0.143702"	"02327"	"NPC1_000092"	"g.21148863A>G"	""	""	""	"NPC1(NM_000271.4):c.387T>C (p.Y129=), NPC1(NM_000271.5):c.387T>C (p.Y129=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23568899A>G"	""	"benign"	""
"0000564208"	"0"	"30"	"18"	"21153530"	"21153530"	"subst"	"0.00106418"	"02329"	"NPC1_000099"	"g.21153530T>C"	""	""	""	"NPC1(NM_000271.4):c.66A>G (p.S22=), NPC1(NM_000271.5):c.66A>G (p.S22=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23573566T>C"	""	"likely benign"	""
"0000616993"	"0"	"10"	"18"	"21112206"	"21112206"	"subst"	"0.0712626"	"02327"	"NPC1_000011"	"g.21112206C>T"	""	""	""	"NPC1(NM_000271.4):c.3797G>A (p.R1266Q), NPC1(NM_000271.5):c.3797G>A (p.R1266Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23532242C>T"	""	"benign"	""
"0000616994"	"0"	"30"	"18"	"21113368"	"21113368"	"subst"	"0"	"02329"	"NPC1_000159"	"g.21113368C>A"	""	""	""	"NPC1(NM_000271.5):c.3705G>T (p.L1235=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23533404C>A"	""	"likely benign"	""
"0000616995"	"0"	"30"	"18"	"21115419"	"21115419"	"subst"	"0.000141212"	"02329"	"NPC1_000160"	"g.21115419G>A"	""	""	""	"NPC1(NM_000271.5):c.3477+14C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23535455G>A"	""	"likely benign"	""
"0000616996"	"0"	"30"	"18"	"21118574"	"21118574"	"subst"	"6.4973E-5"	"02329"	"NPC1_000161"	"g.21118574C>T"	""	""	""	"NPC1(NM_000271.4):c.2973G>A (p.Q991=), NPC1(NM_000271.5):c.2973G>A (p.Q991=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23538610C>T"	""	"likely benign"	""
"0000616997"	"0"	"50"	"18"	"21121051"	"21121051"	"subst"	"4.06111E-6"	"02327"	"NPC1_000162"	"g.21121051T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23541087T>C"	""	"VUS"	""
"0000616998"	"0"	"30"	"18"	"21124350"	"21124350"	"subst"	"5.68597E-5"	"01943"	"NPC1_000163"	"g.21124350A>G"	""	""	""	"NPC1(NM_000271.4):c.2088T>C (p.A696=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23544386A>G"	""	"likely benign"	""
"0000616999"	"0"	"50"	"18"	"21124483"	"21124483"	"subst"	"8.14717E-6"	"02325"	"NPC1_000164"	"g.21124483G>A"	""	""	""	"NPC1(NM_000271.5):c.1955C>T (p.S652L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23544519G>A"	""	"VUS"	""
"0000617000"	"0"	"30"	"18"	"21124907"	"21124907"	"subst"	"0"	"02327"	"NPC1_000055"	"g.21124907A>C"	""	""	""	"NPC1(NM_000271.5):c.1947+17T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23544943A>C"	""	"likely benign"	""
"0000617001"	"0"	"30"	"18"	"21124916"	"21124917"	"ins"	"0.00215981"	"01804"	"NPC1_000136"	"g.21124916_21124917insCCCG"	""	""	""	"NPC1(NM_000271.4):c.1947+7_1947+8insCGGG, NPC1(NM_000271.4):c.1947+7_1947+8insCGGG (p.(=)), NPC1(NM_000271.5):c.1947+7_1947+8insCGGG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23544952_23544953insCCCG"	""	"likely benign"	""
"0000617002"	"0"	"90"	"18"	"21124953"	"21124953"	"subst"	"0"	"02325"	"NPC1_000070"	"g.21124953C>T"	""	""	""	"NPC1(NM_000271.5):c.1918G>A (p.G640R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23544989C>T"	""	"pathogenic"	""
"0000617003"	"0"	"30"	"18"	"21136522"	"21136522"	"subst"	"0.000289387"	"01943"	"NPC1_000081"	"g.21136522C>A"	""	""	""	"NPC1(NM_000271.4):c.1011G>T (p.R337=), NPC1(NM_000271.5):c.1011G>T (p.R337=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23556558C>A"	""	"likely benign"	""
"0000617004"	"0"	"50"	"18"	"21141408"	"21141408"	"subst"	"7.71592E-5"	"02327"	"NPC1_000156"	"g.21141408C>T"	""	""	""	"NPC1(NM_000271.5):c.547G>A (p.A183T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23561444C>T"	""	"VUS"	""
"0000617005"	"0"	"30"	"18"	"21153469"	"21153469"	"subst"	"1.21834E-5"	"02329"	"NPC1_000167"	"g.21153469C>T"	""	""	""	"NPC1(NM_000271.4):c.127G>A (p.E43K), NPC1(NM_000271.5):c.127G>A (p.E43K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23573505C>T"	""	"likely benign"	""
"0000623810"	"0"	"30"	"18"	"21119839"	"21119839"	"subst"	"0.000901486"	"02329"	"NPC1_000035"	"g.21119839C>T"	""	""	""	"NPC1(NM_000271.4):c.2731G>A (p.G911S), NPC1(NM_000271.5):c.2731G>A (p.G911S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23539875C>T"	""	"likely benign"	""
"0000623811"	"0"	"30"	"18"	"21124910"	"21124911"	"ins"	"0"	"02329"	"NPC1_000165"	"g.21124910_21124911insG"	""	""	""	"NPC1(NM_000271.5):c.1947+13_1947+14insC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23544946_23544947insG"	""	"likely benign"	""
"0000623812"	"0"	"30"	"18"	"21124911"	"21124912"	"ins"	"0"	"02329"	"NPC1_000166"	"g.21124911_21124912insTCCCC"	""	""	""	"NPC1(NM_000271.5):c.1947+16_1947+17insAGGGG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23544947_23544948insTCCCC"	""	"likely benign"	""
"0000623813"	"0"	"30"	"18"	"21124914"	"21124914"	"subst"	"0.000742675"	"02329"	"NPC1_000131"	"g.21124914C>T"	""	""	""	"NPC1(NM_000271.4):c.1947+10G>A, NPC1(NM_000271.5):c.1947+10G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23544950C>T"	""	"likely benign"	""
"0000623814"	"0"	"10"	"18"	"21136233"	"21136233"	"subst"	"0.00314412"	"02329"	"NPC1_000145"	"g.21136233G>A"	""	""	""	"NPC1(NM_000271.5):c.1300C>T (p.P434S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23556269G>A"	""	"benign"	""
"0000623815"	"0"	"30"	"18"	"21136462"	"21136462"	"subst"	"0.000642653"	"02329"	"NPC1_000080"	"g.21136462C>T"	""	""	""	"NPC1(NM_000271.4):c.1071G>A (p.S357=), NPC1(NM_000271.5):c.1071G>A (p.S357=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23556498C>T"	""	"likely benign"	""
"0000623816"	"0"	"30"	"18"	"21141343"	"21141343"	"subst"	"0.00503168"	"02329"	"NPC1_000154"	"g.21141343G>A"	""	""	""	"NPC1(NM_000271.4):c.612C>T (p.T204=), NPC1(NM_000271.5):c.612C>T (p.T204=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23561379G>A"	""	"likely benign"	""
"0000649776"	"1"	"70"	"18"	"21114409"	"21114409"	"subst"	"1.22534E-5"	"03575"	"NPC1_000168"	"g.21114409C>T"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs786200877}"	"Germline"	""	"rs786200877"	"0"	""	""	"g.23534445C>T"	""	"likely pathogenic"	""
"0000649777"	"1"	"50"	"18"	"21116775"	"21116775"	"subst"	"2.84269E-5"	"03575"	"NPC1_000169"	"g.21116775G>A"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs28942104}"	"Germline"	""	"rs28942104"	"0"	""	""	"g.23536811G>A"	""	"VUS"	""
"0000649778"	"1"	"70"	"18"	"21118573"	"21118573"	"subst"	"4.8729E-5"	"03575"	"NPC1_000170"	"g.21118573C>G"	"1/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs80358254.1}"	"Germline"	""	"rs80358254"	"0"	""	""	"g.23538609C>G"	""	"likely pathogenic"	""
"0000649779"	"1"	"70"	"18"	"21118615"	"21118615"	"subst"	"1.21883E-5"	"03575"	"NPC1_000007"	"g.21118615G>A"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs28942108}"	"Germline"	""	"rs28942108"	"0"	""	""	"g.23538651G>A"	""	"likely pathogenic"	""
"0000649780"	"1"	"10"	"18"	"21134743"	"21134743"	"subst"	"0.000674369"	"03575"	"NPC1_000075"	"g.21134743G>A"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs13381670}"	"Germline"	""	"rs13381670"	"0"	""	""	"g.23554779G>A"	""	"benign"	""
"0000658322"	"0"	"90"	"18"	"21113459"	"21113459"	"subst"	"4.06124E-6"	"02327"	"NPC1_000109"	"g.21113459G>T"	""	""	""	"NPC1(NM_000271.4):c.3614C>A (p.T1205K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23533495G>T"	""	"pathogenic"	""
"0000658323"	"0"	"50"	"18"	"21114439"	"21114439"	"subst"	"8.13498E-6"	"02325"	"NPC1_000171"	"g.21114439C>G"	""	""	""	"NPC1(NM_000271.5):c.3562G>C (p.E1188Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23534475C>G"	""	"VUS"	""
"0000658324"	"0"	"50"	"18"	"21121090"	"21121090"	"subst"	"8.12209E-6"	"02325"	"NPC1_000172"	"g.21121090C>A"	""	""	""	"NPC1(NM_000271.5):c.2456G>T (p.R819L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23541126C>A"	""	"VUS"	""
"0000658325"	"0"	"30"	"18"	"21121118"	"21121118"	"subst"	"0.000235537"	"01943"	"NPC1_000120"	"g.21121118C>T"	""	""	""	"NPC1(NM_000271.4):c.2428G>A (p.V810I), NPC1(NM_000271.5):c.2428G>A (p.V810I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23541154C>T"	""	"likely benign"	""
"0000658326"	"0"	"50"	"18"	"21123514"	"21123514"	"subst"	"2.45088E-5"	"02325"	"NPC1_000173"	"g.21123514C>T"	""	""	""	"NPC1(NM_000271.5):c.2150G>A (p.G717E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23543550C>T"	""	"VUS"	""
"0000658328"	"0"	"10"	"18"	"21124916"	"21124917"	"ins"	"0.00215981"	"01943"	"NPC1_000136"	"g.21124916_21124917insCCCG"	""	""	""	"NPC1(NM_000271.4):c.1947+7_1947+8insCGGG, NPC1(NM_000271.4):c.1947+7_1947+8insCGGG (p.(=)), NPC1(NM_000271.5):c.1947+7_1947+8insCGGG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23544952_23544953insCCCG"	""	"benign"	""
"0000658329"	"0"	"50"	"18"	"21153416"	"21153416"	"subst"	"0.000284317"	"02327"	"NPC1_000097"	"g.21153416C>A"	""	""	""	"NPC1(NM_000271.5):c.180G>T (p.Q60H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23573452C>A"	""	"VUS"	""
"0000658330"	"0"	"30"	"18"	"21153530"	"21153530"	"subst"	"0.00106418"	"01943"	"NPC1_000099"	"g.21153530T>C"	""	""	""	"NPC1(NM_000271.4):c.66A>G (p.S22=), NPC1(NM_000271.5):c.66A>G (p.S22=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23573566T>C"	""	"likely benign"	""
"0000673984"	"0"	"50"	"18"	"21116676"	"21116676"	"subst"	"0"	"03695"	"NPC1_000175"	"g.21116676A>T"	""	""	""	""	""	"Unknown"	""	""	""	""	""	""	""	"VUS"	""
"0000673985"	"0"	"50"	"18"	"21115443"	"21115443"	"subst"	"2.05073E-5"	"03695"	"NPC1_000174"	"g.21115443T>C"	""	""	""	""	""	"Unknown"	""	""	""	""	""	""	""	"VUS"	""
"0000675236"	"3"	"90"	"18"	"21118528"	"21118528"	"subst"	"0.000117761"	"00006"	"NPC1_000101"	"g.21118528G>C"	""	"{PMID:Krygier 2019:30548255}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000681102"	"0"	"70"	"18"	"21115459"	"21115459"	"subst"	"0"	"01943"	"NPC1_000176"	"g.21115459C>T"	""	""	""	"NPC1(NM_000271.4):c.3451G>A (p.A1151T), NPC1(NM_000271.5):c.3451G>A (p.(Ala1151Thr), p.A1151T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000681104"	"0"	"50"	"18"	"21123419"	"21123419"	"subst"	"0"	"01943"	"NPC1_000177"	"g.21123419C>T"	""	""	""	"NPC1(NM_000271.4):c.2245G>A (p.G749R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000681105"	"0"	"10"	"18"	"21123553"	"21123554"	"del"	"0"	"02330"	"NPC1_000042"	"g.21123553_21123554del"	""	""	""	"NPC1(NM_000271.4):c.2131-5_2131-4del (p.?), NPC1(NM_000271.4):c.2131-5_2131-4delTT, NPC1(NM_000271.5):c.2131-5_2131-4delTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000681106"	"0"	"30"	"18"	"21124909"	"21124910"	"ins"	"0"	"02330"	"NPC1_000178"	"g.21124909_21124910insACCCC"	""	""	""	"NPC1(NM_000271.5):c.1947+17_1947+18insGTGGG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000681107"	"0"	"50"	"18"	"21152050"	"21152050"	"subst"	"0"	"01804"	"NPC1_000095"	"g.21152050T>C"	""	""	""	"NPC1(NM_000271.4):c.275A>G (p.Q92R, p.(Gln92Arg)), NPC1(NM_000271.5):c.275A>G (p.Q92R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000681108"	"0"	"50"	"18"	"21153495"	"21153495"	"subst"	"0"	"02325"	"NPC1_000179"	"g.21153495G>A"	""	""	""	"NPC1(NM_000271.5):c.101C>T (p.A34V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000682986"	"1"	"70"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Stalke 2018:28776642}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000683005"	"2"	"70"	"18"	"21119910"	"21119910"	"subst"	"0"	"00006"	"NPC1_000180"	"g.21119910G>A"	""	"{PMID:Stalke 2018:28776642}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000692556"	"0"	"90"	"18"	"21115459"	"21115459"	"subst"	"0"	"02325"	"NPC1_000176"	"g.21115459C>T"	""	""	""	"NPC1(NM_000271.4):c.3451G>A (p.A1151T), NPC1(NM_000271.5):c.3451G>A (p.(Ala1151Thr), p.A1151T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000692557"	"0"	"50"	"18"	"21121081"	"21121081"	"subst"	"8.12189E-6"	"01943"	"NPC1_000181"	"g.21121081T>C"	""	""	""	"NPC1(NM_000271.4):c.2465A>G (p.K822R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000698202"	"3"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Zhu 2015:25590979}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic (recessive)"	""
"0000726822"	"0"	"50"	"18"	"21115567"	"21115567"	"subst"	"0.00066599"	"02329"	"NPC1_000112"	"g.21115567C>A"	""	""	""	"NPC1(NM_000271.4):c.3343G>T (p.V1115F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000726823"	"0"	"30"	"18"	"21115684"	"21115684"	"subst"	"0.0028451"	"02329"	"NPC1_000026"	"g.21115684C>T"	""	""	""	"NPC1(NM_000271.5):c.3246-20G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000726824"	"0"	"50"	"18"	"21116652"	"21116652"	"subst"	"1.2193E-5"	"02327"	"NPC1_000182"	"g.21116652C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000726826"	"0"	"30"	"18"	"21121375"	"21121375"	"subst"	"3.24915E-5"	"01943"	"NPC1_000040"	"g.21121375G>A"	""	""	""	"NPC1(NM_000271.4):c.2268C>T (p.A756=), NPC1(NM_000271.5):c.2268C>T (p.A756=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000726827"	"0"	"30"	"18"	"21131596"	"21131596"	"subst"	"4.06445E-6"	"01943"	"NPC1_000184"	"g.21131596T>C"	""	""	""	"NPC1(NM_000271.4):c.1649A>G (p.Y550C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000726828"	"0"	"30"	"18"	"21136526"	"21136526"	"subst"	"0"	"01943"	"NPC1_000185"	"g.21136526C>T"	""	""	""	"NPC1(NM_000271.4):c.1007G>A (p.R336K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000726829"	"0"	"50"	"18"	"21136574"	"21136574"	"subst"	"0"	"02325"	"NPC1_000150"	"g.21136574T>C"	""	""	""	"NPC1(NM_000271.4):c.959A>G (p.E320G), NPC1(NM_000271.5):c.959A>G (p.E320G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000726830"	"0"	"50"	"18"	"21140203"	"21140203"	"subst"	"7.33837E-5"	"02329"	"NPC1_000186"	"g.21140203C>A"	""	""	""	"NPC1(NM_000271.4):c.873G>T (p.W291C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000726831"	"0"	"30"	"18"	"21140340"	"21140340"	"subst"	"4.07375E-6"	"01943"	"NPC1_000187"	"g.21140340C>A"	""	""	""	"NPC1(NM_000271.4):c.736G>T (p.V246F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000726832"	"0"	"70"	"18"	"21148840"	"21148840"	"subst"	"8.12387E-6"	"01943"	"NPC1_000188"	"g.21148840G>A"	""	""	""	"NPC1(NM_000271.4):c.410C>T (p.T137M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000726833"	"0"	"70"	"18"	"21152050"	"21152050"	"subst"	"0"	"01943"	"NPC1_000095"	"g.21152050T>C"	""	""	""	"NPC1(NM_000271.4):c.275A>G (p.Q92R, p.(Gln92Arg)), NPC1(NM_000271.5):c.275A>G (p.Q92R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000763070"	"0"	"90"	"18"	"21166307"	"21166307"	"subst"	"0"	"01741"	"NPC1_000189"	"g.21166307T>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"pathogenic"	""
"0000763071"	"0"	"90"	"18"	"21119369"	"21119369"	"subst"	"7.31999E-5"	"01741"	"NPC1_000002"	"g.21119369G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"pathogenic (recessive)"	""
"0000786652"	"3"	"90"	"18"	"21119411"	"21119411"	"subst"	"1.2249E-5"	"00006"	"NPC1_000190"	"g.21119411G>A"	""	"{PMID:Lefebvre 2021:32732226}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23539447G>A"	""	"pathogenic"	""
"0000786966"	"1"	"50"	"18"	"21124370"	"21124370"	"subst"	"0"	"00006"	"NPC1_000192"	"g.21124370T>A"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23544406T>A"	""	"VUS"	""
"0000787341"	"0"	"50"	"18"	"21148805"	"21148805"	"subst"	"0.000751501"	"00006"	"NPC1_000090"	"g.21148805C>T"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	"rs143205855"	"0"	""	""	"g.23568841C>T"	"{CV-RCV:000594495.1}"	"VUS"	""
"0000787508"	"2"	"70"	"18"	"21120411"	"21120411"	"subst"	"0"	"00000"	"NPC1_000191"	"g.21120411C>T"	""	"0"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23540447C>T"	"{CV-RCV:000591979.1}"	"likely pathogenic"	""
"0000808402"	"0"	"30"	"18"	"21114472"	"21114472"	"subst"	"0"	"01943"	"NPC1_000193"	"g.21114472C>A"	""	""	""	"NPC1(NM_000271.4):c.3529G>T (p.V1177L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000808403"	"0"	"30"	"18"	"21118508"	"21118508"	"subst"	"8.1215E-6"	"01804"	"NPC1_000194"	"g.21118508T>C"	""	""	""	"NPC1(NM_000271.4):c.3039A>G (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000808404"	"0"	"90"	"18"	"21118573"	"21118573"	"subst"	"4.8729E-5"	"02326"	"NPC1_000170"	"g.21118573C>G"	""	""	""	"NPC1(NM_000271.5):c.2974G>C (p.G992R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000808405"	"0"	"50"	"18"	"21121045"	"21121045"	"subst"	"0.000239606"	"02325"	"NPC1_000118"	"g.21121045A>G"	""	""	""	"NPC1(NM_000271.5):c.2501T>C (p.(Met834Thr), p.M834T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000808406"	"0"	"50"	"18"	"21121101"	"21121101"	"subst"	"0"	"01943"	"NPC1_000195"	"g.21121101G>C"	""	""	""	"NPC1(NM_000271.4):c.2445C>G (p.S815R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000808407"	"0"	"30"	"18"	"21124440"	"21124440"	"subst"	"4.06326E-6"	"01943"	"NPC1_000196"	"g.21124440G>A"	""	""	""	"NPC1(NM_000271.4):c.1998C>T (p.S666=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000808408"	"0"	"30"	"18"	"21153469"	"21153469"	"subst"	"1.21834E-5"	"01943"	"NPC1_000167"	"g.21153469C>T"	""	""	""	"NPC1(NM_000271.4):c.127G>A (p.E43K), NPC1(NM_000271.5):c.127G>A (p.E43K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000855205"	"0"	"30"	"18"	"21115684"	"21115684"	"subst"	"0.0028451"	"02326"	"NPC1_000026"	"g.21115684C>T"	""	""	""	"NPC1(NM_000271.5):c.3246-20G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000855206"	"0"	"30"	"18"	"21118574"	"21118574"	"subst"	"6.4973E-5"	"01943"	"NPC1_000161"	"g.21118574C>T"	""	""	""	"NPC1(NM_000271.4):c.2973G>A (p.Q991=), NPC1(NM_000271.5):c.2973G>A (p.Q991=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000855207"	"0"	"10"	"18"	"21123553"	"21123554"	"del"	"0"	"02325"	"NPC1_000042"	"g.21123553_21123554del"	""	""	""	"NPC1(NM_000271.4):c.2131-5_2131-4del (p.?), NPC1(NM_000271.4):c.2131-5_2131-4delTT, NPC1(NM_000271.5):c.2131-5_2131-4delTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000855208"	"0"	"30"	"18"	"21124365"	"21124365"	"subst"	"0.00537316"	"02326"	"NPC1_000047"	"g.21124365C>T"	""	""	""	"NPC1(NM_000271.4):c.2073G>A (p.P691=), NPC1(NM_000271.5):c.2073G>A (p.P691=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000855209"	"0"	"30"	"18"	"21124909"	"21124910"	"ins"	"0.0035637"	"02326"	"NPC1_000062"	"g.21124909_21124910insG"	""	""	""	"NPC1(NM_000271.5):c.1947+14_1947+15insC, NPC1(NM_000271.5):c.1947+14delGinsGC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000855210"	"0"	"10"	"18"	"21124909"	"21124910"	"ins"	"0"	"02325"	"NPC1_000197"	"g.21124909_21124910insGCC"	""	""	""	"NPC1(NM_000271.5):c.1947+16_1947+17insCGG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000855211"	"0"	"10"	"18"	"21124916"	"21124916"	"del"	"0"	"02325"	"NPC1_000059"	"g.21124916del"	""	""	""	"NPC1(NM_000271.5):c.1947+16delG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000855212"	"0"	"30"	"18"	"21132517"	"21132517"	"subst"	"0"	"02327"	"NPC1_000199"	"g.21132517G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000855213"	"0"	"10"	"18"	"21132571"	"21132571"	"subst"	"0"	"02327"	"NPC1_000200"	"g.21132571G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000855214"	"0"	"90"	"18"	"21148944"	"21148944"	"subst"	"0"	"01943"	"NPC1_000093"	"g.21148944A>C"	""	""	""	"NPC1(NM_000271.4):c.306T>G (p.Y102*), NPC1(NM_000271.5):c.306T>G (p.Y102*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000865630"	"0"	"30"	"18"	"21119839"	"21119839"	"subst"	"0.000901486"	"02326"	"NPC1_000035"	"g.21119839C>T"	""	""	""	"NPC1(NM_000271.4):c.2731G>A (p.G911S), NPC1(NM_000271.5):c.2731G>A (p.G911S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000865631"	"0"	"30"	"18"	"21124913"	"21124914"	"ins"	"0.000176659"	"01943"	"NPC1_000198"	"g.21124913_21124914insG"	""	""	""	"NPC1(NM_000271.4):c.1947+10_1947+11insC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000865632"	"0"	"30"	"18"	"21124914"	"21124914"	"subst"	"0.000742675"	"02326"	"NPC1_000131"	"g.21124914C>T"	""	""	""	"NPC1(NM_000271.4):c.1947+10G>A, NPC1(NM_000271.5):c.1947+10G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000865633"	"0"	"30"	"18"	"21136462"	"21136462"	"subst"	"0.000642653"	"02326"	"NPC1_000080"	"g.21136462C>T"	""	""	""	"NPC1(NM_000271.4):c.1071G>A (p.S357=), NPC1(NM_000271.5):c.1071G>A (p.S357=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000894433"	"0"	"10"	"18"	"21124335"	"21124335"	"subst"	"0.00286784"	"02326"	"NPC1_000201"	"g.21124335G>A"	""	""	""	"NPC1(NM_000271.5):c.2103C>T (p.N701=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000894434"	"0"	"30"	"18"	"21124914"	"21124914"	"subst"	"0.00789406"	"02327"	"NPC1_000064"	"g.21124914C>G"	""	""	""	"NPC1(NM_000271.5):c.1947+10G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000894435"	"0"	"90"	"18"	"21136249"	"21136252"	"dup"	"0"	"02327"	"NPC1_000202"	"g.21136249_21136252dup"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000915020"	"0"	"30"	"18"	"21114440"	"21114440"	"subst"	"0.00261548"	"02327"	"NPC1_000019"	"g.21114440C>A"	""	""	""	"NPC1(NM_000271.4):c.3561G>T (p.A1187=), NPC1(NM_000271.5):c.3561G>T (p.A1187=, p.(Ala1187=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000915021"	"0"	"30"	"18"	"21124916"	"21124917"	"ins"	"0.000546305"	"02329"	"NPC1_000135"	"g.21124916_21124917insCCCCG"	""	""	""	"NPC1(NM_000271.4):c.1947+7_1947+8insCGGGG, NPC1(NM_000271.5):c.1947+7_1947+8insCGGGG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000915022"	"0"	"10"	"18"	"21124916"	"21124916"	"del"	"0"	"02326"	"NPC1_000059"	"g.21124916del"	""	""	""	"NPC1(NM_000271.5):c.1947+16delG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000918953"	"0"	"70"	"18"	"21119397"	"21119397"	"subst"	"0"	"01602"	"NPC1_000267"	"g.21119397C>T"	""	""	""	""	""	"Unknown"	""	"rs1428599096"	""	""	""	""	""	"likely pathogenic"	"ACMG"
"0000918970"	"0"	"90"	"18"	"21134854"	"21134854"	"subst"	"2.03061E-5"	"01602"	"NPC1_000321"	"g.21134854G>A"	""	""	""	""	""	"Unknown"	""	"rs372445155"	""	""	""	""	""	"pathogenic"	"ACMG"
"0000918976"	"0"	"70"	"18"	"21118614"	"21118614"	"subst"	"1.6252E-5"	"01602"	"NPC1_000259"	"g.21118614C>T"	""	""	""	""	""	"Unknown"	""	"rs752728865"	""	""	""	""	""	"likely pathogenic"	"ACMG"
"0000921975"	"3"	"70"	"18"	"21166250"	"21166581"	"del"	"0"	"00006"	"NPC1_000355"	"g.(21153539_21166250)_(21166581_?)del"	""	"{PMID:Lopez de Frutos 2020:32060698}"	""	"del prom-ex1"	""	"Germline"	""	""	"0"	""	""	"g.(23573575_23586286)_(23586617_?)del"	""	"likely pathogenic (recessive)"	""
"0000921976"	"3"	"70"	"18"	"21148866"	"21148866"	"del"	"0"	"00006"	"NPC1_000350"	"g.21148866del"	""	"{PMID:Lopez de Frutos 2020:32060698}"	""	"385delT"	""	"Germline"	""	""	"0"	""	""	"g.23568902del"	""	"likely pathogenic (recessive)"	""
"0000921977"	"3"	"70"	"18"	"21128363"	"21133380"	"del"	"0"	"00006"	"NPC1_000314"	"g.21128363_21133380del"	""	"{PMID:Lopez de Frutos 2020:32060698}"	""	"1553+1342_1655-291del"	""	"Germline"	""	""	"0"	""	""	"g.23548399_23553416del"	""	"likely pathogenic (recessive)"	""
"0000921978"	"21"	"70"	"18"	"21127970"	"21127970"	"del"	"0"	"00006"	"NPC1_000312"	"g.21127970del"	""	"{PMID:Lopez de Frutos 2020:32060698}"	""	"1757delA"	""	"Germline"	""	""	"0"	""	""	"g.23548006del"	""	"likely pathogenic (recessive)"	""
"0000921979"	"1"	"90"	"18"	"21119400"	"21119400"	"subst"	"1.22413E-5"	"00006"	"NPC1_000102"	"g.21119400C>T"	""	"{PMID:Lopez de Frutos 2020:32060698}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23539436C>T"	""	"pathogenic (recessive)"	""
"0000921980"	"1"	"90"	"18"	"21148899"	"21148900"	"del"	"0"	"00006"	"NPC1_000003"	"g.21148899_21148900del"	""	"{PMID:Lopez de Frutos 2020:32060698}"	""	"352_353delAG"	""	"Germline"	""	""	"0"	""	""	"g.23568935_23568936del"	""	"pathogenic (recessive)"	""
"0000921981"	"1"	"90"	"18"	"21119333"	"21119348"	"delins"	"0"	"00006"	"NPC1_000262"	"g.21119333_21119348delinsC"	""	"{PMID:Lopez de Frutos 2020:32060698}"	""	"2882_2897delinsG"	""	"Germline"	""	""	"0"	""	""	"g.23539369_23539384delinsC"	""	"pathogenic (recessive)"	""
"0000921982"	"1"	"30"	"18"	"21114440"	"21114440"	"subst"	"0.00261548"	"00006"	"NPC1_000019"	"g.21114440C>A"	"3/22 cases NPC"	"{PMID:Lopez de Frutos 2020:32060698}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23534476C>A"	""	"likely benign"	""
"0000921983"	"11"	"90"	"18"	"21119822"	"21119824"	"del"	"4.06101E-6"	"00006"	"NPC1_000276"	"g.21119822_21119824del"	""	"{PMID:Lopez de Frutos 2020:32060698}"	""	"2746_2748delAAT"	""	"Germline"	""	""	"0"	""	""	"g.23539858_23539860del"	""	"pathogenic (recessive)"	""
"0000921984"	"2"	"90"	"18"	"21116778"	"21116778"	"subst"	"8.12163E-6"	"00006"	"NPC1_000247"	"g.21116778G>A"	""	"{PMID:Lopez de Frutos 2020:32060698}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23536814G>A"	""	"pathogenic (recessive)"	""
"0000921985"	"2"	"90"	"18"	"21141425"	"21141425"	"subst"	"0"	"00006"	"NPC1_000343"	"g.21141425C>T"	""	"{PMID:Lopez de Frutos 2020:32060698}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23561461C>T"	""	"pathogenic (recessive)"	""
"0000921986"	"2"	"90"	"18"	"21118573"	"21118573"	"subst"	"8.1215E-6"	"00006"	"NPC1_000254"	"g.21118573C>A"	""	"{PMID:Lopez de Frutos 2020:32060698}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23538609C>A"	""	"pathogenic (recessive)"	""
"0000921988"	"3"	"90"	"18"	"21140229"	"21140229"	"del"	"0"	"00006"	"NPC1_000338"	"g.21140229del"	""	"{PMID:Fancello 2009:19252935}"	""	"852delT"	""	"Germline"	""	""	"0"	""	""	"g.23560265del"	""	"pathogenic (recessive)"	""
"0000921989"	"1"	"90"	"18"	"21125052"	"21125052"	"subst"	"0"	"00006"	"NPC1_000306"	"g.21125052G>A"	""	"{PMID:Fancello 2009:19252935}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23545088G>A"	""	"pathogenic (recessive)"	""
"0000921990"	"1"	"90"	"18"	"21119430"	"21119430"	"subst"	"4.11035E-6"	"00006"	"NPC1_000271"	"g.21119430G>A"	""	"{PMID:Fancello 2009:19252935}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23539466G>A"	""	"pathogenic (recessive)"	""
"0000921992"	"3"	"90"	"18"	"21140229"	"21140229"	"del"	"0"	"00006"	"NPC1_000338"	"g.21140229del"	""	"{PMID:Fancello 2009:19252935}"	""	"852delT"	""	"Germline"	""	""	"0"	""	""	"g.23560265del"	""	"pathogenic (recessive)"	""
"0000921993"	"3"	"90"	"18"	"21118574"	"21118575"	"del"	"4.8729E-5"	"00006"	"NPC1_000032"	"g.21118574_21118575del"	""	"{PMID:Fancello 2009:19252935}"	""	"2972_2973delAG"	""	"Germline"	""	""	"0"	""	""	"g.23538610_23538611del"	""	"pathogenic (recessive)"	""
"0000921994"	"1"	"90"	"18"	"21124970"	"21124970"	"subst"	"8.12579E-6"	"00006"	"NPC1_000303"	"g.21124970T>C"	""	"{PMID:Fancello 2009:19252935}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23545006T>C"	""	"pathogenic (recessive)"	""
"0000921995"	"1"	"90"	"18"	"21125052"	"21125052"	"subst"	"0"	"00006"	"NPC1_000306"	"g.21125052G>A"	""	"{PMID:Fancello 2009:19252935}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23545088G>A"	""	"pathogenic (recessive)"	""
"0000921996"	"3"	"90"	"18"	"21153505"	"21153506"	"del"	"0"	"00006"	"NPC1_000353"	"g.21153505_21153506del"	""	"{PMID:Fancello 2009:19252935}"	""	"93_94delTG"	""	"Germline"	""	""	"0"	""	""	"g.23573541_23573542del"	""	"pathogenic (recessive)"	""
"0000921997"	"1"	"90"	"18"	"21141493"	"21141493"	"subst"	"0"	"00006"	"NPC1_000346"	"g.21141493T>G"	""	"{PMID:Fancello 2009:19252935}"	""	""	"unknown variant 2nd chromosome; no detectable RNA"	"Germline"	""	""	"0"	""	""	"g.23561529T>G"	""	"pathogenic"	""
"0000921998"	"1"	"90"	"18"	"21141493"	"21141493"	"subst"	"0"	"00006"	"NPC1_000346"	"g.21141493T>G"	""	"{PMID:Fancello 2009:19252935}"	""	""	"unknown variant 2nd chromosome; no detectable RNA"	"Germline"	""	""	"0"	""	""	"g.23561529T>G"	""	"pathogenic"	""
"0000921999"	"3"	"90"	"18"	"21115443"	"21115443"	"subst"	"2.05073E-5"	"00006"	"NPC1_000174"	"g.21115443T>C"	""	"{PMID:Fancello 2009:19252935}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23535479T>C"	""	"pathogenic (recessive)"	""
"0000922000"	"3"	"90"	"18"	"21113460"	"21113460"	"dup"	"0"	"00006"	"NPC1_000222"	"g.21113460dup"	""	"{PMID:Fancello 2009:19252935}"	""	"3613insA"	""	"Germline"	""	""	"0"	""	""	"g.23533496dup"	""	"pathogenic (recessive)"	""
"0000922001"	"3"	"90"	"18"	"21119430"	"21119430"	"subst"	"4.11035E-6"	"00006"	"NPC1_000271"	"g.21119430G>A"	""	"{PMID:Fancello 2009:19252935}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23539466G>A"	""	"pathogenic (recessive)"	""
"0000922002"	"0"	"90"	"18"	"21119401"	"21119401"	"subst"	"0"	"00006"	"NPC1_000268"	"g.21119401G>C"	""	"{PMID:Fancello 2009:19252935}"	""	""	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.23539437G>C"	""	"pathogenic"	""
"0000922005"	"1"	"90"	"18"	"21119794"	"21119794"	"subst"	"8.12434E-6"	"00006"	"NPC1_000272"	"g.21119794C>T"	""	"{PMID:Fancello 2009:19252935}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23539830C>T"	""	"pathogenic (recessive)"	""
"0000922006"	"3"	"90"	"18"	"21114430"	"21114430"	"subst"	"0"	"00006"	"NPC1_000225"	"g.21114430G>A"	""	"{PMID:Fancello 2009:19252935}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23534466G>A"	""	"pathogenic (recessive)"	""
"0000922007"	"3"	"90"	"18"	"21116814"	"21116814"	"subst"	"0"	"00006"	"NPC1_000249"	"g.21116814A>C"	""	"{PMID:Fancello 2009:19252935}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23536850A>C"	""	"pathogenic (recessive)"	""
"0000922008"	"1"	"90"	"18"	"21134740"	"21134740"	"subst"	"0"	"00006"	"NPC1_000320"	"g.21134740T>C"	""	"{PMID:Fancello 2009:19252935}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23554776T>C"	""	"pathogenic (recessive)"	""
"0000922009"	"1"	"90"	"18"	"21140229"	"21140229"	"del"	"0"	"00006"	"NPC1_000338"	"g.21140229del"	""	"{PMID:Fancello 2009:19252935}"	""	"852delT"	""	"Germline"	""	""	"0"	""	""	"g.23560265del"	""	"pathogenic (recessive)"	""
"0000922010"	"0"	"90"	"18"	"21118574"	"21118575"	"del"	"4.8729E-5"	"00006"	"NPC1_000032"	"g.21118574_21118575del"	""	"{PMID:Fancello 2009:19252935}"	""	"2972_2973delAG"	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.23538610_23538611del"	""	"pathogenic"	""
"0000922011"	"3"	"90"	"18"	"21140229"	"21140229"	"del"	"0"	"00006"	"NPC1_000338"	"g.21140229del"	""	"{PMID:Fancello 2009:19252935}"	""	"852delT"	""	"Germline"	""	""	"0"	""	""	"g.23560265del"	""	"pathogenic (recessive)"	""
"0000922012"	"1"	"90"	"18"	"21140366"	"21140366"	"subst"	"0"	"00006"	"NPC1_000339"	"g.21140366G>A"	""	"{PMID:Fancello 2009:19252935}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23560402G>A"	""	"pathogenic (recessive)"	""
"0000922013"	"1"	"90"	"18"	"21118528"	"21118528"	"subst"	"0.000117761"	"00006"	"NPC1_000101"	"g.21118528G>C"	""	"{PMID:Fancello 2009:19252935}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23538564G>C"	""	"pathogenic (recessive)"	""
"0000922014"	"3"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Fancello 2009:19252935}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic (recessive)"	""
"0000922015"	"1"	"90"	"18"	"21148952"	"21148952"	"subst"	"0"	"00006"	"NPC1_000351"	"g.21148952A>T"	""	"{PMID:Fancello 2009:19252935}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23568988A>T"	""	"pathogenic (recessive)"	""
"0000922016"	"1"	"90"	"18"	"21119908"	"21119908"	"subst"	"4.06075E-6"	"00006"	"NPC1_000277"	"g.21119908G>A"	""	"{PMID:Fancello 2009:19252935}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23539944G>A"	""	"pathogenic (recessive)"	""
"0000922017"	"1"	"90"	"18"	"21119808"	"21119808"	"subst"	"0"	"00006"	"NPC1_000273"	"g.21119808T>G"	""	"{PMID:Fancello 2009:19252935}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23539844T>G"	""	"pathogenic (recessive)"	""
"0000922018"	"0"	"90"	"18"	"21119430"	"21119430"	"subst"	"4.11035E-6"	"00006"	"NPC1_000271"	"g.21119430G>A"	""	"{PMID:Fancello 2009:19252935}"	""	""	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.23539466G>A"	""	"pathogenic"	""
"0000922019"	"0"	"90"	"18"	"21119430"	"21119430"	"subst"	"4.11035E-6"	"00006"	"NPC1_000271"	"g.21119430G>A"	""	"{PMID:Fancello 2009:19252935}"	""	""	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.23539466G>A"	""	"pathogenic"	""
"0000922020"	"0"	"90"	"18"	"21119430"	"21119430"	"subst"	"4.11035E-6"	"00006"	"NPC1_000271"	"g.21119430G>A"	""	"{PMID:Fancello 2009:19252935}"	""	""	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.23539466G>A"	""	"pathogenic"	""
"0000922021"	"3"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Fancello 2009:19252935}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic (recessive)"	""
"0000922022"	"1"	"90"	"18"	"21119808"	"21119808"	"subst"	"0"	"00006"	"NPC1_000273"	"g.21119808T>G"	""	"{PMID:Fancello 2009:19252935}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23539844T>G"	""	"pathogenic (recessive)"	""
"0000922023"	"1"	"90"	"18"	"21119808"	"21119808"	"subst"	"0"	"00006"	"NPC1_000273"	"g.21119808T>G"	""	"{PMID:Fancello 2009:19252935}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23539844T>G"	""	"pathogenic (recessive)"	""
"0000922024"	"1"	"90"	"18"	"21134860"	"21134860"	"subst"	"0"	"00006"	"NPC1_000322"	"g.21134860A>T"	""	"{PMID:Fancello 2009:19252935}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23554896A>T"	""	"pathogenic (recessive)"	""
"0000922025"	"0"	"90"	"18"	"21124964"	"21124964"	"subst"	"0"	"00006"	"NPC1_000302"	"g.21124964G>A"	""	"{PMID:Fancello 2009:19252935}"	""	""	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.23545000G>A"	""	"pathogenic"	""
"0000922026"	"1"	"90"	"18"	"21140411"	"21140411"	"subst"	"0.00333312"	"00006"	"NPC1_000001"	"g.21140411T>C"	""	"{PMID:Fancello 2009:19252935}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23560447T>C"	""	"pathogenic (recessive)"	""
"0000922027"	"3"	"90"	"18"	"21136367"	"21136367"	"subst"	"0"	"00006"	"NPC1_000327"	"g.21136367C>A"	""	"{PMID:Fancello 2009:19252935}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23556403C>A"	""	"pathogenic (recessive)"	""
"0000922028"	"3"	"90"	"18"	"21134936"	"21134936"	"subst"	"4.06431E-6"	"00006"	"NPC1_000324"	"g.21134936G>A"	""	"{PMID:Fancello 2009:19252935}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23554972G>A"	""	"pathogenic (recessive)"	""
"0000922029"	"1"	"90"	"18"	"21118528"	"21118528"	"subst"	"0.000117761"	"00006"	"NPC1_000101"	"g.21118528G>C"	""	"{PMID:Fancello 2009:19252935}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23538564G>C"	""	"pathogenic (recessive)"	""
"0000922030"	"1"	"90"	"18"	"21119808"	"21119808"	"subst"	"0"	"00006"	"NPC1_000273"	"g.21119808T>G"	""	"{PMID:Fancello 2009:19252935}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23539844T>G"	""	"pathogenic (recessive)"	""
"0000922031"	"3"	"90"	"18"	"21116826"	"21116826"	"subst"	"8.12651E-6"	"00006"	"NPC1_000250"	"g.21116826T>C"	""	"{PMID:Fancello 2009:19252935}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23536862T>C"	""	"pathogenic (recessive)"	""
"0000922032"	"2"	"90"	"18"	"21113459"	"21113459"	"subst"	"4.06124E-6"	"00006"	"NPC1_000109"	"g.21113459G>T"	""	"{PMID:Fancello 2009:19252935}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23533495G>T"	""	"pathogenic (recessive)"	""
"0000922033"	"2"	"90"	"18"	"21114440"	"21114440"	"del"	"0"	"00006"	"NPC1_000227"	"g.21114440del"	""	"{PMID:Fancello 2009:19252935}"	""	"3561delG"	""	"Germline"	""	""	"0"	""	""	"g.23534476del"	""	"pathogenic (recessive)"	""
"0000922034"	"2"	"90"	"18"	"21113459"	"21113459"	"subst"	"4.06124E-6"	"00006"	"NPC1_000109"	"g.21113459G>T"	""	"{PMID:Fancello 2009:19252935}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23533495G>T"	""	"pathogenic (recessive)"	""
"0000922035"	"2"	"90"	"18"	"21113342"	"21113342"	"subst"	"0"	"00006"	"NPC1_000217"	"g.21113342A>G"	""	"{PMID:Fancello 2009:19252935}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23533378A>G"	""	"pathogenic (recessive)"	""
"0000922036"	"2"	"90"	"18"	"21116826"	"21116826"	"subst"	"8.12651E-6"	"00006"	"NPC1_000250"	"g.21116826T>C"	""	"{PMID:Fancello 2009:19252935}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23536862T>C"	""	"pathogenic (recessive)"	""
"0000922037"	"2"	"90"	"18"	"21116826"	"21116826"	"subst"	"8.12651E-6"	"00006"	"NPC1_000250"	"g.21116826T>C"	""	"{PMID:Fancello 2009:19252935}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23536862T>C"	""	"pathogenic (recessive)"	""
"0000922038"	"2"	"90"	"18"	"21115606"	"21115606"	"subst"	"4.06114E-6"	"00006"	"NPC1_000237"	"g.21115606G>A"	""	"{PMID:Fancello 2009:19252935}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23535642G>A"	""	"pathogenic (recessive)"	""
"0000922039"	"2"	"90"	"18"	"21113459"	"21113459"	"subst"	"4.06124E-6"	"00006"	"NPC1_000109"	"g.21113459G>T"	""	"{PMID:Fancello 2009:19252935}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23533495G>T"	""	"pathogenic (recessive)"	""
"0000922040"	"2"	"50"	"18"	"21124928"	"21124928"	"subst"	"0"	"00006"	"NPC1_000301"	"g.21124928A>T"	""	"{PMID:Fancello 2009:19252935}"	""	"[1943T>A;3425T>C]"	""	"Germline"	""	""	"0"	""	""	"g.23544964A>T"	""	"VUS"	""
"0000922041"	"2"	"90"	"18"	"21119809"	"21119809"	"subst"	"0"	"00006"	"NPC1_000274"	"g.21119809G>A"	""	"{PMID:Fancello 2009:19252935}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23539845G>A"	""	"pathogenic (recessive)"	""
"0000922042"	"2"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Fancello 2009:19252935}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic (recessive)"	""
"0000922043"	"2"	"90"	"18"	"21119327"	"21119327"	"subst"	"1.62696E-5"	"00006"	"NPC1_000261"	"g.21119327T>C"	""	"{PMID:Fancello 2009:19252935}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23539363T>C"	""	"pathogenic (recessive)"	""
"0000922044"	"2"	"90"	"18"	"21119327"	"21119327"	"subst"	"1.62696E-5"	"00006"	"NPC1_000261"	"g.21119327T>C"	""	"{PMID:Fancello 2009:19252935}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23539363T>C"	""	"pathogenic (recessive)"	""
"0000922045"	"2"	"90"	"18"	"21116652"	"21116652"	"subst"	"1.2193E-5"	"00006"	"NPC1_000182"	"g.21116652C>T"	""	"{PMID:Fancello 2009:19252935}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23536688C>T"	""	"pathogenic (recessive)"	""
"0000922046"	"2"	"90"	"18"	"21114441"	"21114441"	"subst"	"0.000113878"	"00006"	"NPC1_000229"	"g.21114441G>A"	""	"{PMID:Fancello 2009:19252935}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23534477G>A"	""	"pathogenic (recessive)"	""
"0000922047"	"2"	"90"	"18"	"21113459"	"21113459"	"subst"	"4.06124E-6"	"00006"	"NPC1_000109"	"g.21113459G>T"	""	"{PMID:Fancello 2009:19252935}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23533495G>T"	""	"pathogenic (recessive)"	""
"0000922048"	"2"	"90"	"18"	"21121304"	"21121304"	"subst"	"0"	"00006"	"NPC1_000287"	"g.21121304A>C"	""	"{PMID:Fancello 2009:19252935}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23541340A>C"	""	"pathogenic (recessive)"	""
"0000922049"	"2"	"90"	"18"	"21119358"	"21119358"	"subst"	"4.0657E-6"	"00006"	"NPC1_000264"	"g.21119358G>A"	""	"{PMID:Fancello 2009:19252935}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23539394G>A"	""	"pathogenic (recessive)"	""
"0000922050"	"2"	"90"	"18"	"21115485"	"21115485"	"subst"	"4.0662E-6"	"00006"	"NPC1_000111"	"g.21115485A>G"	""	"{PMID:Fancello 2009:19252935}"	""	"[1943T>A;3425T>C]"	""	"Germline"	""	""	"0"	""	""	"g.23535521A>G"	""	"pathogenic (recessive)"	""
"0000922064"	"3"	"10"	"18"	"21120444"	"21120444"	"subst"	"0.499935"	"00006"	"NPC1_000009"	"g.21120444T>C"	""	"{PMID:Klunemann 2002:12447927}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000922065"	"3"	"10"	"18"	"21119777"	"21119777"	"subst"	"0.499024"	"00006"	"NPC1_000010"	"g.21119777G>A"	""	"{PMID:Klunemann 2002:12447927}"	""	"N931N"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000922066"	"3"	"10"	"18"	"21119291"	"21119291"	"subst"	"0.524922"	"00006"	"NPC1_000114"	"g.21119291A>G"	""	"{PMID:Klunemann 2002:12447927}"	""	"IVS19+28T>C"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000922067"	"1"	"10"	"18"	"21140432"	"21140432"	"subst"	"0.332364"	"00006"	"NPC1_000085"	"g.21140432T>C"	""	"{PMID:Klunemann 2002:12447927}"	""	"H215R"	""	"Germline"	"no"	""	"0"	""	""	""	""	"benign"	""
"0000922076"	"3"	"90"	"18"	"21118574"	"21118575"	"del"	"4.8729E-5"	"00006"	"NPC1_000032"	"g.21118574_21118575del"	""	"{PMID:Millat 2005:16126423}"	""	"2972–2973delAG"	""	"Germline"	""	""	"0"	""	""	"g.23538610_23538611del"	""	"pathogenic (recessive)"	""
"0000922077"	"1"	"90"	"18"	"21136404"	"21136404"	"del"	"0"	"00006"	"NPC1_000329"	"g.21136404del"	""	"{PMID:Millat 2005:16126423}"	""	"1129delC"	""	"Germline"	""	""	"0"	""	""	"g.23556440del"	""	"pathogenic (recessive)"	""
"0000922078"	"1"	"90"	"18"	"21131590"	"21131590"	"subst"	"0"	"00006"	"NPC1_000317"	"g.21131590C>A"	""	"{PMID:Millat 2005:16126423}"	""	"IVS10+1G>T"	""	"Germline"	""	""	"0"	""	""	"g.23551626C>A"	""	"pathogenic (recessive)"	""
"0000922079"	"3"	"90"	"18"	"21131617"	"21131617"	"subst"	"1.62627E-5"	"00006"	"NPC1_000072"	"g.21131617G>A"	""	"{PMID:Millat 2005:16126423}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23551653G>A"	""	"pathogenic (recessive)"	""
"0000922080"	"1"	"90"	"18"	"21148824"	"21148827"	"del"	"0"	"00006"	"NPC1_000348"	"g.21148824_21148827del"	""	"{PMID:Millat 2005:16126423}"	""	"423delGAAA"	""	"Germline"	""	""	"0"	""	""	"g.23568860_23568863del"	""	"pathogenic (recessive)"	""
"0000922081"	"1"	"90"	"18"	"21136508"	"21136508"	"dup"	"0"	"00006"	"NPC1_000331"	"g.21136508dup"	""	"{PMID:Millat 2005:16126423}"	""	"1030insG"	""	"Germline"	""	""	"0"	""	""	"g.23556544dup"	""	"pathogenic (recessive)"	""
"0000922082"	"0"	"90"	"18"	"21141425"	"21141425"	"subst"	"0"	"00006"	"NPC1_000343"	"g.21141425C>T"	""	"{PMID:Millat 2005:16126423}"	""	""	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.23561461C>T"	""	"pathogenic (recessive)"	""
"0000922083"	"1"	"90"	"18"	"21141388"	"21141388"	"subst"	"4.06101E-6"	"00006"	"NPC1_000342"	"g.21141388C>T"	""	"{PMID:Millat 2005:16126423}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23561424C>T"	""	"pathogenic (recessive)"	""
"0000922084"	"1"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Millat 2005:16126423}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic (recessive)"	""
"0000922085"	"1"	"90"	"18"	"21124979"	"21124979"	"subst"	"0"	"00006"	"NPC1_000006"	"g.21124979A>C"	""	"{PMID:Millat 2005:16126423}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23545015A>C"	""	"pathogenic (recessive)"	""
"0000922086"	"1"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Millat 2005:16126423}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic (recessive)"	""
"0000922087"	"1"	"90"	"18"	"21136272"	"21136272"	"subst"	"0"	"00006"	"NPC1_000325"	"g.21136272G>A"	""	"{PMID:Millat 2005:16126423}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23556308G>A"	""	"pathogenic (recessive)"	""
"0000922088"	"1"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Millat 2005:16126423}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic (recessive)"	""
"0000922089"	"3"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Millat 2005:16126423}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic (recessive)"	""
"0000922090"	"1"	"90"	"18"	"21136322"	"21136322"	"subst"	"0"	"00006"	"NPC1_000326"	"g.21136322C>G"	""	"{PMID:Millat 2005:16126423}"	""	"1210G>C"	""	"Germline"	""	""	"0"	""	""	"g.23556358C>G"	""	"pathogenic (recessive)"	""
"0000922091"	"1"	"90"	"18"	"21148969"	"21148974"	"del"	"0"	"00006"	"NPC1_000352"	"g.21148969_21148974del"	""	"{PMID:Millat 2005:16126423}"	""	"288-12delCTTTTC"	""	"Germline"	""	""	"0"	""	""	"g.23569005_23569010del"	""	"pathogenic (recessive)"	""
"0000922092"	"3"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Millat 2005:16126423}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic (recessive)"	""
"0000922093"	"1"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Millat 2005:16126423}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic (recessive)"	""
"0000922094"	"1"	"90"	"18"	"21141458"	"21141458"	"subst"	"0"	"00006"	"NPC1_000345"	"g.21141458G>A"	""	"{PMID:Millat 2005:16126423}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23561494G>A"	""	"pathogenic (recessive)"	""
"0000922095"	"0"	"90"	"18"	"21125027"	"21125027"	"subst"	"4.06095E-6"	"00006"	"NPC1_000304"	"g.21125027C>A"	""	"{PMID:Millat 2005:16126423}"	""	""	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.23545063C>A"	""	"pathogenic (recessive)"	""
"0000922096"	"1"	"90"	"18"	"0"	"0"	""	""	"00006"	"SMCHD1_000000"	"g.?"	""	"{PMID:Millat 2005:16126423}"	""	"g.3096del31bp (Q19fs)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000922097"	"1"	"90"	"18"	"21119821"	"21119821"	"subst"	"0"	"00006"	"NPC1_000275"	"g.21119821C>A"	""	"{PMID:Millat 2005:16126423}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23539857C>A"	""	"pathogenic (recessive)"	""
"0000922098"	"1"	"90"	"18"	"21118528"	"21118528"	"subst"	"0.000117761"	"00006"	"NPC1_000101"	"g.21118528G>C"	""	"{PMID:Millat 2005:16126423}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23538564G>C"	""	"pathogenic (recessive)"	""
"0000922099"	"1"	"90"	"18"	"21119327"	"21119327"	"subst"	"1.62696E-5"	"00006"	"NPC1_000261"	"g.21119327T>C"	""	"{PMID:Millat 2005:16126423}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23539363T>C"	""	"pathogenic (recessive)"	""
"0000922100"	"1"	"90"	"18"	"21131634"	"21131634"	"subst"	"0"	"00006"	"NPC1_000318"	"g.21131634A>T"	""	"{PMID:Millat 2005:16126423}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23551670A>T"	""	"pathogenic (recessive)"	""
"0000922101"	"1"	"90"	"18"	"21121356"	"21121356"	"subst"	"0"	"00006"	"NPC1_000290"	"g.21121356A>G"	""	"{PMID:Millat 2005:16126423}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23541392A>G"	""	"pathogenic (recessive)"	""
"0000922102"	"1"	"90"	"18"	"21121072"	"21121072"	"subst"	"1.2183E-5"	"00006"	"NPC1_000119"	"g.21121072T>C"	""	"{PMID:Millat 2005:16126423}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23541108T>C"	""	"pathogenic (recessive)"	""
"0000922103"	"1"	"90"	"18"	"21140228"	"21140229"	"ins"	"0"	"00006"	"NPC1_000337"	"g.21140228_21140229insCC"	""	"{PMID:Millat 2005:16126423}"	""	"848insGG"	""	"Germline"	""	""	"0"	""	""	"g.23560264_23560265insCC"	""	"pathogenic (recessive)"	""
"0000922104"	"1"	"90"	"18"	"21119382"	"21119382"	"subst"	"8.13988E-6"	"00006"	"NPC1_000265"	"g.21119382C>T"	""	"{PMID:Millat 2005:16126423}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23539418C>T"	""	"pathogenic (recessive)"	""
"0000922105"	"1"	"90"	"18"	"21118572"	"21118572"	"subst"	"0"	"00006"	"NPC1_000253"	"g.21118572C>T"	""	"{PMID:Millat 2005:16126423}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23538608C>T"	""	"pathogenic (recessive)"	""
"0000922106"	"1"	"90"	"18"	"21115432"	"21115432"	"subst"	"0"	"00006"	"NPC1_000235"	"g.21115432C>T"	""	"{PMID:Millat 2005:16126423}"	""	"IVS22+1G>A"	""	"Germline"	""	""	"0"	""	""	"g.23535468C>T"	""	"pathogenic (recessive)"	""
"0000922107"	"1"	"90"	"18"	"21119429"	"21119429"	"subst"	"4.10671E-6"	"00006"	"NPC1_000270"	"g.21119429C>T"	""	"{PMID:Millat 2005:16126423}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23539465C>T"	""	"pathogenic (recessive)"	""
"0000922108"	"1"	"90"	"18"	"21118573"	"21118573"	"subst"	"8.1215E-6"	"00006"	"NPC1_000254"	"g.21118573C>A"	""	"{PMID:Millat 2005:16126423}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23538609C>A"	""	"pathogenic (recessive)"	""
"0000922111"	"2"	"90"	"18"	"21119323"	"21119323"	"dup"	"0"	"00006"	"NPC1_000260"	"g.21119323dup"	""	"{PMID:Millat 2005:16126423}"	""	"2909insT"	""	"Germline"	""	""	"0"	""	""	"g.23539359dup"	""	"pathogenic (recessive)"	""
"0000922112"	"2"	"90"	"18"	"21113355"	"21113355"	"subst"	"0"	"00006"	"NPC1_000218"	"g.21113355C>G"	""	"{PMID:Millat 2005:16126423}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23533391C>G"	""	"pathogenic (recessive)"	""
"0000922113"	"2"	"90"	"18"	"21120422"	"21120422"	"subst"	"0"	"00006"	"NPC1_000283"	"g.21120422G>A"	""	"{PMID:Millat 2005:16126423}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23540458G>A"	""	"pathogenic (recessive)"	""
"0000922114"	"2"	"90"	"18"	"21114444"	"21114444"	"subst"	"2.43966E-5"	"00006"	"NPC1_000230"	"g.21114444C>T"	""	"{PMID:Millat 2005:16126423}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23534480C>T"	""	"pathogenic (recessive)"	""
"0000922115"	"2"	"90"	"18"	"21119821"	"21119821"	"subst"	"0"	"00006"	"NPC1_000275"	"g.21119821C>A"	""	"{PMID:Millat 2005:16126423}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23539857C>A"	""	"pathogenic (recessive)"	""
"0000922116"	"2"	"90"	"18"	"21115449"	"21115449"	"subst"	"0"	"00006"	"NPC1_000236"	"g.21115449A>T"	""	"{PMID:Millat 2005:16126423}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23535485A>T"	""	"pathogenic (recessive)"	""
"0000922117"	"2"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Millat 2005:16126423}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic (recessive)"	""
"0000922118"	"2"	"90"	"18"	"21116775"	"21116775"	"subst"	"2.84269E-5"	"00006"	"NPC1_000169"	"g.21116775G>A"	""	"{PMID:Millat 2005:16126423}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23536811G>A"	""	"pathogenic (recessive)"	""
"0000922119"	"2"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Millat 2005:16126423}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic (recessive)"	""
"0000922120"	"2"	"90"	"18"	"21116697"	"21116697"	"subst"	"0"	"00006"	"NPC1_000244"	"g.21116697G>A"	""	"{PMID:Millat 2005:16126423}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23536733G>A"	""	"pathogenic (recessive)"	""
"0000922121"	"2"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Millat 2005:16126423}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic (recessive)"	""
"0000922122"	"2"	"90"	"18"	"21113426"	"21113426"	"subst"	"0"	"00006"	"NPC1_000221"	"g.21113426G>A"	""	"{PMID:Millat 2005:16126423}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23533462G>A"	""	"pathogenic (recessive)"	""
"0000922123"	"2"	"90"	"18"	"21119411"	"21119411"	"subst"	"1.2249E-5"	"00006"	"NPC1_000190"	"g.21119411G>A"	""	"{PMID:Millat 2005:16126423}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23539447G>A"	""	"pathogenic (recessive)"	""
"0000922124"	"2"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Millat 2005:16126423}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic (recessive)"	""
"0000922125"	"2"	"90"	"18"	"21120431"	"21120431"	"subst"	"0"	"00006"	"NPC1_000284"	"g.21120431T>A"	""	"{PMID:Millat 2005:16126423}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23540467T>A"	""	"pathogenic (recessive)"	""
"0000922126"	"2"	"90"	"18"	"21118528"	"21118528"	"subst"	"0.000117761"	"00006"	"NPC1_000101"	"g.21118528G>C"	""	"{PMID:Millat 2005:16126423}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23538564G>C"	""	"pathogenic (recessive)"	""
"0000922127"	"2"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Millat 2005:16126423}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic (recessive)"	""
"0000922128"	"2"	"90"	"18"	"21113384"	"21113385"	"ins"	"0"	"00006"	"NPC1_000219"	"g.21113384_21113385insTATT"	""	"{PMID:Millat 2005:16126423}"	""	"3689insAATA"	""	"Germline"	""	""	"0"	""	""	"g.23533420_23533421insTATT"	""	"pathogenic (recessive)"	""
"0000922129"	"2"	"90"	"18"	"21118528"	"21118528"	"subst"	"0.000117761"	"00006"	"NPC1_000101"	"g.21118528G>C"	""	"{PMID:Millat 2005:16126423}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23538564G>C"	""	"pathogenic (recessive)"	""
"0000922130"	"2"	"90"	"18"	"21119958"	"21119958"	"subst"	"0"	"00006"	"NPC1_000280"	"g.21119958T>C"	""	"{PMID:Millat 2005:16126423}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23539994T>C"	""	"pathogenic (recessive)"	""
"0000922131"	"2"	"90"	"18"	"21118573"	"21118573"	"subst"	"1.6243E-5"	"00006"	"NPC1_000255"	"g.21118573C>T"	""	"{PMID:Millat 2005:16126423}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23538609C>T"	""	"pathogenic (recessive)"	""
"0000922132"	"2"	"90"	"18"	"21115621"	"21115621"	"subst"	"4.06151E-6"	"00006"	"NPC1_000238"	"g.21115621C>T"	""	"{PMID:Millat 2005:16126423}"	""	"3389G>A"	""	"Germline"	""	""	"0"	""	""	"g.23535657C>T"	""	"pathogenic (recessive)"	""
"0000922133"	"2"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Millat 2005:16126423}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic (recessive)"	""
"0000922134"	"2"	"90"	"18"	"21118574"	"21118574"	"del"	"0"	"00006"	"NPC1_000256"	"g.21118574del"	""	"{PMID:Millat 2005:16126423}"	""	"2978delG"	""	"Germline"	""	""	"0"	""	""	"g.23538610del"	""	"pathogenic (recessive)"	""
"0000922135"	"2"	"90"	"18"	"21114480"	"21114480"	"subst"	"0"	"00006"	"NPC1_000231"	"g.21114480G>A"	""	"{PMID:Millat 2005:16126423}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23534516G>A"	""	"pathogenic (recessive)"	""
"0000922136"	"2"	"90"	"18"	"21118575"	"21118575"	"dup"	"0"	"00006"	"NPC1_000257"	"g.21118575dup"	""	"{PMID:Millat 2005:16126423}"	""	"2973insA"	""	"Germline"	""	""	"0"	""	""	"g.23538611dup"	""	"pathogenic (recessive)"	""
"0000922137"	"2"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Millat 2005:16126423}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic (recessive)"	""
"0000922139"	"0"	"10"	"18"	"21153530"	"21153530"	"subst"	"0"	"00006"	"NPC1_000354"	"g.21153530T>V"	""	"{PMID:Millat 2005:16126423}"	""	"S22S"	""	"Germline"	""	""	"0"	""	""	"g.23573566T>V"	""	"benign"	""
"0000922140"	"0"	"10"	"18"	"21148766"	"21148766"	"subst"	"0"	"00006"	"NPC1_000347"	"g.21148766A>C"	""	"{PMID:Millat 2005:16126423}"	""	"IVS4+21T>G"	""	"Germline"	""	""	"0"	""	""	"g.23568802A>C"	""	"benign"	""
"0000922141"	"0"	"10"	"18"	"21141443"	"21141443"	"subst"	"0"	"00006"	"NPC1_000344"	"g.21141443T>A"	""	"{PMID:Millat 2005:16126423}"	""	"T511M"	""	"Germline"	""	""	"0"	""	""	"g.23561479T>A"	""	"benign"	""
"0000922142"	"0"	"10"	"18"	"21127951"	"21127951"	"subst"	"0"	"00006"	"NPC1_000311"	"g.21127951A>G"	""	"{PMID:Millat 2005:16126423}"	""	"IVS11+19T>C"	""	"Germline"	""	""	"0"	""	""	"g.23547987A>G"	""	"benign"	""
"0000922143"	"0"	"10"	"18"	"21119909"	"21119909"	"subst"	"0"	"00006"	"NPC1_000278"	"g.21119909C>D"	""	"{PMID:Millat 2005:16126423}"	""	"P887P"	""	"Germline"	""	""	"0"	""	""	"g.23539945C>D"	""	"benign"	""
"0000922144"	"0"	"10"	"18"	"21124910"	"21124910"	"subst"	"0.0440458"	"00006"	"NPC1_000126"	"g.21124910C>A"	""	"{PMID:Millat 2005:16126423}"	""	"IVS12+14T>G"	""	"Germline"	""	""	"0"	""	""	"g.23544946C>A"	""	"benign"	""
"0000922145"	"0"	"10"	"18"	"21124916"	"21124916"	"del"	"0"	"00006"	"NPC1_000059"	"g.21124916del"	""	"{PMID:Millat 2005:16126423}"	""	"IVS12+16delG"	""	"Germline"	""	""	"0"	""	""	"g.23544952del"	""	"benign"	""
"0000922146"	"0"	"10"	"18"	"21119291"	"21119291"	"subst"	"0.524922"	"00006"	"NPC1_000114"	"g.21119291A>G"	""	"{PMID:Millat 2005:16126423}"	""	"IVS19+28C>T"	""	"Germline"	""	""	"0"	""	""	"g.23539327A>G"	""	"benign"	""
"0000922147"	"0"	"10"	"18"	"21116663"	"21116663"	"subst"	"0"	"00006"	"NPC1_000243"	"g.21116663G>H"	""	"{PMID:Millat 2005:16126423}"	""	"G1073G"	""	"Germline"	""	""	"0"	""	""	"g.23536699G>H"	""	"benign"	""
"0000922148"	"0"	"10"	"18"	"21114440"	"21114440"	"subst"	"0"	"00006"	"NPC1_000228"	"g.21114440C>D"	""	"{PMID:Millat 2005:16126423}"	""	"A1187A"	""	"Germline"	""	""	"0"	""	""	"g.23534476C>A"	""	"benign"	""
"0000922149"	"0"	"10"	"18"	"21113341"	"21113341"	"subst"	"0"	"00006"	"NPC1_000216"	"g.21113341G>H"	""	"{PMID:Millat 2005:16126423}"	""	"L1244L"	""	"Germline"	""	""	"0"	""	""	"g.23533377G>H"	""	"benign"	""
"0000922180"	"21"	"90"	"18"	"21124441"	"21124441"	"subst"	"1.21952E-5"	"00006"	"NPC1_000203"	"g.21124441C>T"	""	"{PMID:Dvorakova 2006:16802107}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000922181"	"2"	"90"	"18"	"21119348"	"21119348"	"subst"	"0.00080078"	"00006"	"NPC1_000204"	"g.21119348T>C"	""	""	""	""	"not in 318 control chromosomes"	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000922182"	"0"	"10"	"18"	"21148863"	"21148863"	"subst"	"0.143702"	"00006"	"NPC1_000092"	"g.21148863A>G"	""	"{PMID:Dvorakova 2006:16802107}"	""	"Y129Y"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000922183"	"0"	"10"	"18"	"21120444"	"21120444"	"subst"	"0.499935"	"00006"	"NPC1_000009"	"g.21120444T>C"	""	"{PMID:Dvorakova 2006:16802107}"	""	"I858V"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000922184"	"0"	"10"	"18"	"21140432"	"21140432"	"subst"	"0.332364"	"00006"	"NPC1_000085"	"g.21140432T>C"	""	"{PMID:Dvorakova 2006:16802107}"	""	"H215R"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000922185"	"0"	"10"	"18"	"21119777"	"21119777"	"subst"	"0.499024"	"00006"	"NPC1_000010"	"g.21119777G>A"	""	"{PMID:Dvorakova 2006:16802107}"	""	"N931N"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000922186"	"0"	"10"	"18"	"21119291"	"21119291"	"subst"	"0.524922"	"00006"	"NPC1_000114"	"g.21119291A>G"	""	"{PMID:Dvorakova 2006:16802107}"	""	"IVS19+28T>C"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000922215"	"1"	"90"	"18"	"21140403"	"21140406"	"del"	"0"	"00006"	"NPC1_000340"	"g.21140403_21140406del"	""	"{PMID:Imrie 2007:17160617}"	""	"4bpDel670"	""	"Germline"	""	""	"0"	""	""	"g.23560439_23560442del"	""	"pathogenic (recessive)"	""
"0000922216"	"0"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Imrie 2007:17160617}"	""	"I1061T"	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic"	""
"0000922217"	"1"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Imrie 2007:17160617}"	""	"I1061T"	""	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic (recessive)"	""
"0000922218"	"1"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Imrie 2007:17160617}"	""	"I1061T"	""	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic (recessive)"	""
"0000922219"	"1"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Imrie 2007:17160617}"	""	"I1061T"	""	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic (recessive)"	""
"0000922220"	"1"	"90"	"18"	"21116775"	"21116775"	"subst"	"2.84269E-5"	"00006"	"NPC1_000169"	"g.21116775G>A"	""	"{PMID:Imrie 2007:17160617}"	""	"T1036M"	""	"Germline"	""	""	"0"	""	""	"g.23536811G>A"	""	"pathogenic (recessive)"	""
"0000922221"	"1"	"90"	"18"	"21116775"	"21116775"	"subst"	"2.84269E-5"	"00006"	"NPC1_000169"	"g.21116775G>A"	""	"{PMID:Imrie 2007:17160617}"	""	"T1036M"	""	"Germline"	""	""	"0"	""	""	"g.23536811G>A"	""	"pathogenic (recessive)"	""
"0000922222"	"0"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Imrie 2007:17160617}"	""	"I1061T"	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic"	""
"0000922223"	"0"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Imrie 2007:17160617}"	""	"I1061T"	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic"	""
"0000922224"	"1"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Imrie 2007:17160617}"	""	"I1061T"	""	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic (recessive)"	""
"0000922225"	"0"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Imrie 2007:17160617}"	""	"I1061T"	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic"	""
"0000922226"	"0"	"90"	"18"	"21116706"	"21116706"	"subst"	"3.24886E-5"	"00006"	"NPC1_000245"	"g.21116706C>T"	""	"{PMID:Imrie 2007:17160617}"	""	"R1059Q"	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.23536742C>T"	""	"pathogenic"	""
"0000922227"	"1"	"90"	"18"	"21121309"	"21121309"	"del"	"0"	"00006"	"NPC1_000288"	"g.21121309del"	""	"{PMID:Imrie 2007:17160617}"	""	"1 bp del 2336"	""	"Germline"	""	""	"0"	""	""	"g.23541345del"	""	"pathogenic (recessive)"	""
"0000922228"	"1"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Imrie 2007:17160617}"	""	"I1061T"	""	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic (recessive)"	""
"0000922229"	"3"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Imrie 2007:17160617}"	""	"I1061T"	""	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic (recessive)"	""
"0000922230"	"1"	"90"	"18"	"21119429"	"21119429"	"subst"	"4.10671E-6"	"00006"	"NPC1_000270"	"g.21119429C>T"	""	"{PMID:Imrie 2007:17160617}"	""	"R934Q"	""	"Germline"	""	""	"0"	""	""	"g.23539465C>T"	""	"pathogenic (recessive)"	""
"0000922231"	"3"	"90"	"18"	"21114502"	"21114502"	"subst"	"0"	"00006"	"NPC1_000233"	"g.21114502A>G"	""	"{PMID:Imrie 2007:17160617}"	""	"F1167L"	""	"Germline"	""	""	"0"	""	""	"g.23534538A>G"	""	"pathogenic (recessive)"	""
"0000922232"	"1"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Imrie 2007:17160617}"	""	"I1061T"	""	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic (recessive)"	""
"0000922233"	"0"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Imrie 2007:17160617}"	""	"I1061T"	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic"	""
"0000922234"	"1"	"90"	"18"	"21121309"	"21121309"	"del"	"0"	"00006"	"NPC1_000288"	"g.21121309del"	""	"{PMID:Imrie 2007:17160617}"	""	"1 bp del 2336"	""	"Germline"	""	""	"0"	""	""	"g.23541345del"	""	"pathogenic (recessive)"	""
"0000922235"	"0"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Imrie 2007:17160617}"	""	"I1061T"	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic"	""
"0000922236"	"0"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Imrie 2007:17160617}"	""	"I1061T"	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic"	""
"0000922237"	"3"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Imrie 2007:17160617}"	""	"I1061T"	""	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic (recessive)"	""
"0000922238"	"1"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Imrie 2007:17160617}"	""	"I1061T"	""	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic (recessive)"	""
"0000922239"	"0"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Imrie 2007:17160617}"	""	"I1061T"	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic"	""
"0000922240"	"0"	"90"	"18"	"21119411"	"21119411"	"subst"	"1.2249E-5"	"00006"	"NPC1_000190"	"g.21119411G>A"	""	"{PMID:Imrie 2007:17160617}"	""	"S940L"	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.23539447G>A"	""	"pathogenic"	""
"0000922241"	"1"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Imrie 2007:17160617}"	""	"I1061T"	""	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic (recessive)"	""
"0000922242"	"3"	"90"	"18"	"21114406"	"21114406"	"del"	"4.0872E-6"	"00006"	"NPC1_000224"	"g.21114406del"	""	"{PMID:Imrie 2007:17160617}"	""	"1 bp del at 3591+4"	""	"Germline"	""	""	"0"	""	""	"g.23534442del"	""	"pathogenic (recessive)"	""
"0000922243"	"1"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Imrie 2007:17160617}"	""	"I1061T"	""	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic (recessive)"	""
"0000922244"	"0"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Imrie 2007:17160617}"	""	"I1061T"	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic (recessive)"	""
"0000922245"	"0"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Imrie 2007:17160617}"	""	"I1061T"	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic (recessive)"	""
"0000922246"	"0"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Imrie 2007:17160617}"	""	"I1061T"	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic"	""
"0000922247"	"3"	"90"	"18"	"21114498"	"21114498"	"subst"	"0"	"00006"	"NPC1_000232"	"g.21114498C>T"	""	"{PMID:Imrie 2007:17160617}"	""	"C1168Y"	""	"Germline"	""	""	"0"	""	""	"g.23534534C>T"	""	"pathogenic (recessive)"	""
"0000922248"	"1"	"90"	"18"	"21121319"	"21121319"	"subst"	"8.12203E-6"	"00006"	"NPC1_000289"	"g.21121319T>G"	""	"{PMID:Imrie 2007:17160617}"	""	"Q775P"	""	"Germline"	""	""	"0"	""	""	"g.23541355T>G"	""	"pathogenic (recessive)"	""
"0000922249"	"0"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Imrie 2007:17160617}"	""	"I1061T"	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic"	""
"0000922250"	"1"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Imrie 2007:17160617}"	""	"I1061T"	""	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic (recessive)"	""
"0000922251"	"3"	"90"	"18"	"21125027"	"21125027"	"subst"	"4.06095E-6"	"00006"	"NPC1_000304"	"g.21125027C>A"	""	"{PMID:Imrie 2007:17160617}"	""	"R615L"	""	"Germline"	""	""	"0"	""	""	"g.23545063C>A"	""	"pathogenic (recessive)"	""
"0000922252"	"0"	"90"	"18"	"21115443"	"21115443"	"subst"	"2.05073E-5"	"00006"	"NPC1_000174"	"g.21115443T>C"	""	"{PMID:Imrie 2002:12555942}, {PMID:Imrie 2007:17160617}"	""	"N1156S"	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.23535479T>C"	""	"pathogenic"	""
"0000922253"	"1"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Imrie 2002:12555942}, {PMID:Imrie 2007:17160617}"	""	"I1061T"	""	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic (recessive)"	""
"0000922254"	"0"	"90"	"18"	"21119411"	"21119411"	"subst"	"1.2249E-5"	"00006"	"NPC1_000190"	"g.21119411G>A"	""	"{PMID:Imrie 2007:17160617}"	""	"S940l"	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.23539447G>A"	""	"pathogenic"	""
"0000922255"	"1"	"90"	"18"	"21115443"	"21115443"	"subst"	"2.05073E-5"	"00006"	"NPC1_000174"	"g.21115443T>C"	""	"{PMID:Imrie 2007:17160617}"	""	"I156S"	""	"Germline"	""	""	"0"	""	""	"g.23535479T>C"	""	"pathogenic (recessive)"	""
"0000922256"	"3"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Imrie 2007:17160617}"	""	"I1061T"	""	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic (recessive)"	""
"0000922257"	"3"	"90"	"18"	"21136514"	"21136514"	"subst"	"0"	"00006"	"NPC1_000332"	"g.21136514G>A"	""	"{PMID:Imrie 2007:17160617}"	""	"P1007L"	""	"Germline"	""	""	"0"	""	""	"g.23556550G>A"	""	"pathogenic (recessive)"	""
"0000922258"	"3"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Imrie 2007:17160617}"	""	"I1061T"	""	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic (recessive)"	""
"0000922259"	"3"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Imrie 2007:17160617}"	""	"I1061T"	""	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic (recessive)"	""
"0000922260"	"3"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Imrie 2007:17160617}"	""	"I1061T"	""	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic (recessive)"	""
"0000922261"	"1"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Imrie 2007:17160617}"	""	"I1061T"	""	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic (recessive)"	""
"0000922262"	"1"	"90"	"18"	"21119949"	"21119949"	"subst"	"5.2803E-5"	"00006"	"NPC1_000116"	"g.21119949T>A"	""	"{PMID:Imrie 2007:17160617}"	""	"D874V"	""	"Germline"	""	""	"0"	""	""	"g.23539985T>A"	""	"pathogenic (recessive)"	""
"0000922263"	"0"	"90"	"18"	"21115443"	"21115443"	"subst"	"2.05073E-5"	"00006"	"NPC1_000174"	"g.21115443T>C"	""	"{PMID:Imrie 2002:12555942}, {PMID:Imrie 2007:17160617}"	""	"N1156S"	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.23535479T>C"	""	"pathogenic"	""
"0000922264"	"0"	"90"	"18"	"21136514"	"21136514"	"subst"	"0"	"00006"	"NPC1_000332"	"g.21136514G>A"	""	"{PMID:Imrie 2007:17160617}"	""	"P1007L"	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.23556550G>A"	""	"pathogenic"	""
"0000922265"	"0"	"90"	"18"	"21115647"	"21115647"	"subst"	"0"	"00006"	"NPC1_000239"	"g.21115647T>C"	""	"{PMID:Imrie 2007:17160617}"	""	"Y1088C"	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.23535683T>C"	""	"pathogenic"	""
"0000922266"	"0"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Imrie 2007:17160617}"	""	"I1061T"	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic"	""
"0000922267"	"1"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Imrie 2002:12555942}, {PMID:Imrie 2007:17160617}"	""	"I1061T"	""	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic (recessive)"	""
"0000922268"	"1"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Imrie 2007:17160617}"	""	"I1061T"	""	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic (recessive)"	""
"0000922269"	"0"	"90"	"18"	"21136438"	"21136440"	"del"	"0"	"00006"	"NPC1_000330"	"g.21136438_21136440del"	""	"{PMID:Imrie 2002:12555942}, {PMID:Imrie 2007:17160617}"	""	"3 bp del 1094"	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.23556474_23556476del"	""	"pathogenic"	""
"0000922270"	"3"	"90"	"18"	"21118574"	"21118575"	"del"	"4.8729E-5"	"00006"	"NPC1_000032"	"g.21118574_21118575del"	""	"{PMID:Imrie 2007:17160617}"	""	"delAG/2972–2973"	""	"Germline"	""	""	"0"	""	""	"g.23538610_23538611del"	""	"pathogenic (recessive)"	""
"0000922271"	"0"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Imrie 2002:12555942}, {PMID:Imrie 2007:17160617}"	""	"I1061T"	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic"	""
"0000922272"	"3"	"90"	"18"	"21134723"	"21134723"	"subst"	"3.25428E-5"	"00006"	"NPC1_000074"	"g.21134723G>A"	""	"{PMID:Imrie 2007:17160617}"	""	"R518W"	""	"Germline"	""	""	"0"	""	""	"g.23554759G>A"	""	"pathogenic (recessive)"	""
"0000922273"	"0"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Imrie 2002:12555942}, {PMID:Imrie 2007:17160617}"	""	"I1061T"	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic"	""
"0000922274"	"3"	"90"	"18"	"21148830"	"21148831"	"ins"	"0"	"00006"	"NPC1_000349"	"g.21148830_21148831insG"	""	"{PMID:Imrie 2002:12555942}, {PMID:Imrie 2007:17160617}"	""	"C419,420insTG"	""	"Germline"	""	""	"0"	""	""	"g.23568866_23568867insG"	""	"pathogenic (recessive)"	""
"0000922275"	"3"	"90"	"18"	"21134723"	"21134723"	"subst"	"3.25428E-5"	"00006"	"NPC1_000074"	"g.21134723G>A"	""	"{PMID:Imrie 2007:17160617}"	""	"R518W"	""	"Germline"	""	""	"0"	""	""	"g.23554759G>A"	""	"pathogenic (recessive)"	""
"0000922276"	"0"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Imrie 2007:17160617}"	""	"I1061T"	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic"	""
"0000922277"	"3"	"90"	"18"	"21134723"	"21134723"	"subst"	"3.25428E-5"	"00006"	"NPC1_000074"	"g.21134723G>A"	""	"{PMID:Imrie 2007:17160617}"	""	"R518W"	""	"Germline"	""	""	"0"	""	""	"g.23554759G>A"	""	"pathogenic (recessive)"	""
"0000922278"	"0"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Imrie 2007:17160617}"	""	"I1061T"	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic"	""
"0000922279"	"1"	"90"	"18"	"21125028"	"21125028"	"subst"	"5.27919E-5"	"00006"	"NPC1_000305"	"g.21125028G>A"	""	"{PMID:Imrie 2007:17160617}"	""	"R615C"	""	"Germline"	""	""	"0"	""	""	"g.23545064G>A"	""	"pathogenic (recessive)"	""
"0000922280"	"0"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Imrie 2007:17160617}"	""	"I1061T"	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic"	""
"0000922281"	"3"	"90"	"18"	"21114502"	"21114502"	"subst"	"0"	"00006"	"NPC1_000233"	"g.21114502A>G"	""	"{PMID:Imrie 2007:17160617}"	""	"F1167L"	""	"Germline"	""	""	"0"	""	""	"g.23534538A>G"	""	"pathogenic (recessive)"	""
"0000922282"	"3"	"90"	"18"	"21114502"	"21114502"	"subst"	"0"	"00006"	"NPC1_000233"	"g.21114502A>G"	""	"{PMID:Imrie 2007:17160617}"	""	"F1167L"	""	"Germline"	""	""	"0"	""	""	"g.23534538A>G"	""	"pathogenic (recessive)"	""
"0000922283"	"3"	"90"	"18"	"21114502"	"21114502"	"subst"	"0"	"00006"	"NPC1_000233"	"g.21114502A>G"	""	"{PMID:Imrie 2007:17160617}"	""	"F1167L"	""	"Germline"	""	""	"0"	""	""	"g.23534538A>G"	""	"pathogenic (recessive)"	""
"0000922284"	"0"	"90"	"18"	"21136438"	"21136440"	"del"	"0"	"00006"	"NPC1_000330"	"g.21136438_21136440del"	""	"{PMID:Imrie 2007:17160617}"	""	"3 bp del 1094"	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.23556474_23556476del"	""	"pathogenic"	""
"0000922285"	"2"	"90"	"18"	"21124430"	"21124433"	"del"	"0"	"00006"	"NPC1_000300"	"g.21124430_21124433del"	""	"{PMID:Imrie 2007:17160617}"	""	"delTGCT (2005–2011)"	""	"Germline"	""	""	"0"	""	""	"g.23544466_23544469del"	""	"pathogenic (recessive)"	""
"0000922286"	"2"	"90"	"18"	"21136563"	"21136572"	"del"	"0"	"00006"	"NPC1_000335"	"g.21136563_21136572del"	""	"{PMID:Imrie 2007:17160617}"	""	"del 10bp 962"	""	"Germline"	""	""	"0"	""	""	"g.23556599_23556608del"	""	"pathogenic (recessive)"	""
"0000922287"	"0"	"50"	"18"	"21115443"	"21115443"	"subst"	"2.05073E-5"	"00006"	"NPC1_000174"	"g.21115443T>C"	""	"{PMID:Imrie 2007:17160617}"	""	"N222S"	""	"Germline"	""	""	"0"	""	""	"g.23535479T>C"	""	"VUS"	""
"0000922288"	"2"	"90"	"18"	"21116707"	"21116707"	"subst"	"0"	"00006"	"NPC1_000246"	"g.21116707G>A"	""	"{PMID:Imrie 2007:17160617}"	""	"R1059X"	""	"Germline"	""	""	"0"	""	""	"g.23536743G>A"	""	"pathogenic (recessive)"	""
"0000922289"	"2"	"90"	"18"	"21114444"	"21114444"	"subst"	"2.43966E-5"	"00006"	"NPC1_000230"	"g.21114444C>T"	""	"{PMID:Imrie 2007:17160617}"	""	"R1086H"	""	"Germline"	""	""	"0"	""	""	"g.23534480C>T"	""	"pathogenic (recessive)"	""
"0000922290"	"2"	"90"	"18"	"21114444"	"21114444"	"subst"	"2.43966E-5"	"00006"	"NPC1_000230"	"g.21114444C>T"	""	"{PMID:Imrie 2007:17160617}"	""	"R1086H"	""	"Germline"	""	""	"0"	""	""	"g.23534480C>T"	""	"pathogenic (recessive)"	""
"0000922291"	"2"	"90"	"18"	"21136390"	"21136390"	"subst"	"0"	"00006"	"NPC1_000328"	"g.21136390C>T"	""	"{PMID:Imrie 2007:17160617}"	""	"W381X"	""	"Germline"	""	""	"0"	""	""	"g.23556426C>T"	""	"pathogenic (recessive)"	""
"0000922292"	"2"	"90"	"18"	"21119949"	"21119949"	"subst"	"5.2803E-5"	"00006"	"NPC1_000116"	"g.21119949T>A"	""	"{PMID:Imrie 2007:17160617}"	""	"D874V"	""	"Germline"	""	""	"0"	""	""	"g.23539985T>A"	""	"pathogenic (recessive)"	""
"0000922293"	"2"	"90"	"18"	"21115443"	"21115443"	"subst"	"2.05073E-5"	"00006"	"NPC1_000174"	"g.21115443T>C"	""	"{PMID:Imrie 2007:17160617}"	""	"N1156S"	""	"Germline"	""	""	"0"	""	""	"g.23535479T>C"	""	"pathogenic (recessive)"	""
"0000922294"	"2"	"90"	"18"	"21118574"	"21118574"	"del"	"0"	"00006"	"NPC1_000256"	"g.21118574del"	""	"{PMID:Imrie 2007:17160617}"	""	"1 bp del 2974"	""	"Germline"	""	""	"0"	""	""	"g.23538610del"	""	"pathogenic (recessive)"	""
"0000922295"	"1"	"50"	"18"	"21119357"	"21119357"	"subst"	"2.03269E-5"	"00006"	"NPC1_000263"	"g.21119357C>T"	""	"{PMID:Imrie 2007:17160617}"	""	"R958Q"	""	"Germline"	""	""	"0"	""	""	"g.23539393C>T"	""	"VUS"	""
"0000922296"	"2"	"90"	"18"	"21118573"	"21118573"	"subst"	"8.1215E-6"	"00006"	"NPC1_000254"	"g.21118573C>A"	""	"{PMID:Imrie 2007:17160617}"	""	"G992W"	""	"Germline"	""	""	"0"	""	""	"g.23538609C>A"	""	"pathogenic (recessive)"	""
"0000922297"	"2"	"90"	"18"	"21119949"	"21119949"	"subst"	"5.2803E-5"	"00006"	"NPC1_000116"	"g.21119949T>A"	""	"{PMID:Imrie 2007:17160617}"	""	"D874V"	""	"Germline"	""	""	"0"	""	""	"g.23539985T>A"	""	"pathogenic (recessive)"	""
"0000922298"	"2"	"90"	"18"	"21119429"	"21119429"	"subst"	"4.10671E-6"	"00006"	"NPC1_000270"	"g.21119429C>T"	""	"{PMID:Imrie 2007:17160617}"	""	"R934Q"	""	"Germline"	""	""	"0"	""	""	"g.23539465C>T"	""	"pathogenic (recessive)"	""
"0000922299"	"2"	"90"	"18"	"21119914"	"21119914"	"subst"	"0"	"00006"	"NPC1_000279"	"g.21119914C>G"	""	"{PMID:Imrie 2007:17160617}"	""	"G886R"	""	"Germline"	""	""	"0"	""	""	"g.23539950C>G"	""	"pathogenic (recessive)"	""
"0000922300"	"2"	"90"	"18"	"21114508"	"21114508"	"subst"	"4.0706E-6"	"00006"	"NPC1_000234"	"g.21114508C>T"	""	"{PMID:Imrie 2007:17160617}"	""	"V1165M"	""	"Germline"	""	""	"0"	""	""	"g.23534544C>T"	""	"pathogenic (recessive)"	""
"0000922301"	"2"	"90"	"18"	"21118591"	"21118591"	"subst"	"0"	"00006"	"NPC1_000258"	"g.21118591C>G"	""	"{PMID:Imrie 2007:17160617}"	""	"G986S"	""	"Germline"	""	""	"0"	""	""	"g.23538627C>G"	""	"pathogenic (recessive)"	""
"0000922302"	"2"	"90"	"18"	"21116775"	"21116775"	"subst"	"2.84269E-5"	"00006"	"NPC1_000169"	"g.21116775G>A"	""	"{PMID:Imrie 2007:17160617}"	""	"T1036M"	""	"Germline"	""	""	"0"	""	""	"g.23536811G>A"	""	"pathogenic (recessive)"	""
"0000922303"	"2"	"90"	"18"	"21136514"	"21136514"	"subst"	"0"	"00006"	"NPC1_000333"	"g.21136514G>C"	""	"{PMID:Imrie 2007:17160617}"	""	"P1007A"	""	"Germline"	""	""	"0"	""	""	"g.23556550G>C"	""	"pathogenic (recessive)"	""
"0000922304"	"2"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Imrie 2007:17160617}"	""	"I1061T"	""	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic (recessive)"	""
"0000922305"	"2"	"90"	"18"	"21114435"	"21114435"	"subst"	"2.03416E-5"	"00006"	"NPC1_000226"	"g.21114435T>C"	""	"{PMID:Imrie 2007:17160617}"	""	"E1189G"	""	"Germline"	""	""	"0"	""	""	"g.23534471T>C"	""	"pathogenic (recessive)"	""
"0000922306"	"2"	"90"	"18"	"21114406"	"21114406"	"del"	"4.0872E-6"	"00006"	"NPC1_000224"	"g.21114406del"	""	"{PMID:Imrie 2007:17160617}"	""	"1 bp del at 3591+4"	""	"Germline"	""	""	"0"	""	""	"g.23534442del"	""	"pathogenic (recessive)"	""
"0000922307"	"2"	"90"	"18"	"21136514"	"21136514"	"subst"	"0"	"00006"	"NPC1_000333"	"g.21136514G>C"	""	"{PMID:Imrie 2007:17160617}"	""	"P1007A"	""	"Germline"	""	""	"0"	""	""	"g.23556550G>C"	""	"pathogenic (recessive)"	""
"0000922308"	"2"	"90"	"18"	"21136514"	"21136514"	"subst"	"0"	"00006"	"NPC1_000333"	"g.21136514G>C"	""	"{PMID:Imrie 2007:17160617}"	""	"P1007A"	""	"Germline"	""	""	"0"	""	""	"g.23556550G>C"	""	"pathogenic (recessive)"	""
"0000922309"	"2"	"90"	"18"	"21121309"	"21121309"	"del"	"0"	"00006"	"NPC1_000288"	"g.21121309del"	""	"{PMID:Imrie 2007:17160617}"	""	"2336delT"	""	"Germline"	""	""	"0"	""	""	"g.23541345del"	""	"pathogenic (recessive)"	""
"0000922310"	"0"	"50"	"18"	"21119357"	"21119357"	"subst"	"2.03269E-5"	"00006"	"NPC1_000263"	"g.21119357C>T"	""	"{PMID:Imrie 2007:17160617}"	""	"R958Q"	""	"Germline"	""	""	"0"	""	""	"g.23539393C>T"	""	"VUS"	""
"0000922311"	"0"	"90"	"18"	"21114406"	"21114406"	"del"	"4.0872E-6"	"00006"	"NPC1_000224"	"g.21114406del"	""	"{PMID:Imrie 2007:17160617}"	""	"IVS23+4delA"	""	"Germline"	""	""	"0"	""	""	"g.23534442del"	""	"pathogenic (recessive)"	""
"0000922312"	"1"	"50"	"18"	"21119357"	"21119357"	"subst"	"2.03269E-5"	"00006"	"NPC1_000263"	"g.21119357C>T"	""	"{PMID:Imrie 2007:17160617}"	""	"R958Q"	""	"Germline"	""	""	"0"	""	""	"g.23539393C>T"	""	"VUS"	""
"0000922313"	"1"	"50"	"18"	"21119357"	"21119357"	"subst"	"2.03269E-5"	"00006"	"NPC1_000263"	"g.21119357C>T"	""	"{PMID:Imrie 2007:17160617}"	""	"R958Q"	""	"Germline"	""	""	"0"	""	""	"g.23539393C>T"	""	"VUS"	""
"0000922314"	"1"	"50"	"18"	"21119357"	"21119357"	"subst"	"2.03269E-5"	"00006"	"NPC1_000263"	"g.21119357C>T"	""	"{PMID:Imrie 2007:17160617}"	""	"R958Q"	""	"Germline"	""	""	"0"	""	""	"g.23539393C>T"	""	"VUS"	""
"0000922315"	"21"	"90"	"18"	"21140367"	"21140367"	"subst"	"0.0100463"	"00006"	"NPC1_000083"	"g.21140367G>A"	""	"{PMID:Kaminski 2002:12408188}"	""	"P237S"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000922316"	"10"	"90"	"18"	"21140384"	"21140384"	"subst"	"0"	"00006"	"NPC1_000205"	"g.21140384A>C"	""	"{PMID:Kaminski 2002:12408188}"	""	""	"variant not detected in father"	"De novo"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000922317"	"21"	"90"	"18"	"21119949"	"21119949"	"subst"	"0"	"00006"	"NPC1_000206"	"g.21119949T>C"	""	"{PMID:Kaminski 2002:12408188}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000922318"	"11"	"90"	"18"	"21119388"	"21119388"	"subst"	"0"	"00006"	"NPC1_000207"	"g.21119388C>T"	""	"{PMID:Kaminski 2002:12408188}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000922319"	"21"	"90"	"18"	"21124945"	"21124945"	"subst"	"0.727274"	"00006"	"NPC1_000069"	"g.21124945C>G"	""	"{PMID:Kaminski 2002:12408188}"	""	"I642M"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000922320"	"11"	"90"	"18"	"21115629"	"21115629"	"subst"	"4.06177E-6"	"00006"	"NPC1_000208"	"g.21115629A>G"	""	"{PMID:Kaminski 2002:12408188}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000922321"	"21"	"90"	"18"	"21124945"	"21124945"	"subst"	"0.727274"	"00006"	"NPC1_000069"	"g.21124945C>G"	""	"{PMID:Kaminski 2002:12408188}"	""	"I642M"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000922322"	"11"	"90"	"18"	"21115629"	"21115629"	"subst"	"4.06177E-6"	"00006"	"NPC1_000208"	"g.21115629A>G"	""	"{PMID:Kaminski 2002:12408188}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000922323"	"21"	"90"	"18"	"21140367"	"21140367"	"subst"	"0.0100463"	"00006"	"NPC1_000083"	"g.21140367G>A"	""	"{PMID:Kaminski 2002:12408188}"	""	"P237S"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000922324"	"11"	"90"	"18"	"21148904"	"21148904"	"subst"	"4.06207E-6"	"00006"	"NPC1_000209"	"g.21148904G>A"	""	"{PMID:Kaminski 2002:12408188}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000922325"	"0"	"10"	"18"	"21166329"	"21166329"	"subst"	"0.0681852"	"00006"	"NPC1_000100"	"g.21166329T>G"	""	"{PMID:Park 2003:12955717}"	""	"-22A>C"	""	"Germline"	""	""	"0"	""	""	"g.23586365T>G"	""	"benign"	""
"0000922326"	"0"	"10"	"18"	"21148863"	"21148863"	"subst"	"0.143702"	"00006"	"NPC1_000092"	"g.21148863A>G"	"16/100 control chromosomes"	"{PMID:Park 2003:12955717}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23568899A>G"	""	"benign"	""
"0000922327"	"0"	"10"	"18"	"21141415"	"21141415"	"subst"	"0.00466618"	"00006"	"NPC1_000088"	"g.21141415G>A"	"1/100 control chromosomes"	"{PMID:Park 2003:12955717}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23561451G>A"	""	"benign"	""
"0000922328"	"0"	"10"	"18"	"21141343"	"21141343"	"subst"	"0.00503168"	"00006"	"NPC1_000154"	"g.21141343G>A"	""	"{PMID:Park 2003:12955717}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23561379G>A"	""	"benign"	""
"0000922329"	"0"	"10"	"18"	"21140480"	"21140480"	"="	"0"	"00006"	"NPC1_000341"	"g.21140480="	""	"{PMID:Park 2003:12955717}"	""	"IVS5-36A>G"	""	"Germline"	""	""	"0"	""	""	"g.23560516="	""	"benign"	""
"0000922330"	"0"	"10"	"18"	"21140432"	"21140432"	"subst"	"0.332364"	"00006"	"NPC1_000085"	"g.21140432T>C"	"38/100 control chromosomes"	"{PMID:Park 2003:12955717}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23560468T>C"	""	"benign"	""
"0000922331"	"0"	"10"	"18"	"21140411"	"21140411"	"subst"	"0.00333312"	"00006"	"NPC1_000001"	"g.21140411T>C"	"1/100 control chromosomes"	"{PMID:Park 2003:12955717}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23560447T>C"	""	"benign"	""
"0000922332"	"0"	"10"	"18"	"21140367"	"21140367"	"subst"	"0.0100463"	"00006"	"NPC1_000083"	"g.21140367G>A"	"2/100 control chromosomes"	"{PMID:Park 2003:12955717}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23560403G>A"	""	"benign"	""
"0000922333"	"0"	"10"	"18"	"21136567"	"21136567"	"subst"	"0.00363488"	"00006"	"NPC1_000082"	"g.21136567G>A"	""	"{PMID:Park 2003:12955717}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23556603G>A"	""	"benign"	""
"0000922334"	"0"	"10"	"18"	"21136233"	"21136233"	"subst"	"0.00314412"	"00006"	"NPC1_000145"	"g.21136233G>A"	"1/100 control chromosomes"	"{PMID:Park 2003:12955717}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23556269G>A"	""	"benign"	""
"0000922335"	"0"	"10"	"18"	"21134772"	"21134772"	"subst"	"0.00387043"	"00006"	"NPC1_000076"	"g.21134772G>A"	"1/100 control chromosomes"	"{PMID:Park 2003:12955717}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23554808G>A"	""	"benign"	""
"0000922336"	"0"	"10"	"18"	"21134703"	"21134703"	"subst"	"0"	"00006"	"NPC1_000319"	"g.21134703A>C"	""	"{PMID:Park 2003:12955717}"	""	"IVS9+19T>G"	""	"Germline"	""	""	"0"	""	""	"g.23554739A>C"	""	"benign"	""
"0000922337"	"0"	"10"	"18"	"21131533"	"21131533"	"subst"	"0"	"00006"	"NPC1_000316"	"g.21131533A>G"	""	"{PMID:Park 2003:12955717}"	""	"IVS10+58T>C"	""	"Germline"	""	""	"0"	""	""	"g.23551569A>G"	""	"benign"	""
"0000922338"	"0"	"10"	"18"	"21127910"	"21127910"	"subst"	"0"	"00006"	"NPC1_000310"	"g.21127910C>T"	"49/100 control chromosomes"	"{PMID:Park 2003:12955717}"	""	"IVS11+60A>G"	""	"Germline"	""	""	"0"	""	""	"g.23547946C>T"	""	"benign"	""
"0000922339"	"0"	"10"	"18"	"21124945"	"21124945"	"subst"	"0.727274"	"00006"	"NPC1_000069"	"g.21124945C>G"	""	"{PMID:Park 2003:12955717}"	""	"1926C>G (I642M)"	""	"Germline"	""	""	"0"	""	""	"g.23544981C>G"	""	"benign"	""
"0000922340"	"0"	"10"	"18"	"21124916"	"21124916"	"dup"	"0"	"00006"	"NPC1_000056"	"g.21124916dup"	""	"{PMID:Park 2003:12955717}"	""	"IVS12+8(G)10"	""	"Germline"	""	""	"0"	""	""	"g.23544952dup"	""	"benign"	""
"0000922341"	"0"	"10"	"18"	"21124915"	"21124916"	"dup"	"0"	"00006"	"NPC1_000058"	"g.21124915_21124916dup"	""	"{PMID:Park 2003:12955717}"	""	"IVS12+8(G)11"	""	"Germline"	""	""	"0"	""	""	"g.23544951_23544952dup"	""	"benign"	""
"0000922342"	"0"	"10"	"18"	"21124914"	"21124916"	"dup"	"0"	"00006"	"NPC1_000065"	"g.21124914_21124916dup"	""	"{PMID:Park 2003:12955717}"	""	"IVS12+8(G)12"	""	"Germline"	""	""	"0"	""	""	"g.23544950_23544952dup"	""	"benign"	""
"0000922343"	"0"	"10"	"18"	"21124913"	"21124916"	"dup"	"0"	"00006"	"NPC1_000129"	"g.21124913_21124916dup"	""	"{PMID:Park 2003:12955717}"	""	"IVS12+8(G)13"	""	"Germline"	""	""	"0"	""	""	"g.23544949_23544952dup"	""	"benign"	""
"0000922344"	"0"	"10"	"18"	"21124912"	"21124916"	"dup"	"0"	"00006"	"NPC1_000128"	"g.21124912_21124916dup"	""	"{PMID:Park 2003:12955717}"	""	"IVS12+8(G)14"	""	"Germline"	""	""	"0"	""	""	"g.23544948_23544952dup"	""	"benign"	""
"0000922345"	"0"	"10"	"18"	"21124365"	"21124365"	"subst"	"0.00537316"	"00006"	"NPC1_000047"	"g.21124365C>T"	"1/100 control chromosomes"	"{PMID:Park 2003:12955717}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23544401C>T"	""	"benign"	""
"0000922346"	"0"	"10"	"18"	"21123554"	"21123554"	"del"	"0"	"00006"	"NPC1_000041"	"g.21123554del"	""	"{PMID:Park 2003:12955717}"	""	"IVS13+754(T)n"	""	"Germline"	""	""	"0"	""	""	"g.23543590del"	""	"benign"	""
"0000922347"	"0"	"10"	"18"	"21120444"	"21120444"	"subst"	"0.499935"	"00006"	"NPC1_000009"	"g.21120444T>C"	""	"{PMID:Park 2003:12955717}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23540480T>C"	""	"benign"	""
"0000922348"	"0"	"10"	"18"	"21120397"	"21120397"	"del"	"0"	"00006"	"NPC1_000037"	"g.21120397del"	""	"{PMID:Park 2003:12955717}"	""	"IVS17+15(T)n"	""	"Germline"	""	""	"0"	""	""	"g.23540433del"	""	"benign"	""
"0000922349"	"0"	"10"	"18"	"21119777"	"21119777"	"subst"	"0.499024"	"00006"	"NPC1_000010"	"g.21119777G>A"	"49/100 control chromosomes"	"{PMID:Park 2003:12955717}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23539813G>A"	""	"benign"	""
"0000922350"	"0"	"10"	"18"	"21119410"	"21119410"	"subst"	"3.26696E-5"	"00006"	"NPC1_000269"	"g.21119410C>T"	"1/100 control chromosomes"	"{PMID:Park 2003:12955717}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23539446C>T"	""	"benign"	""
"0000922351"	"0"	"10"	"18"	"21119291"	"21119291"	"subst"	"0.524922"	"00006"	"NPC1_000114"	"g.21119291A>G"	"51/100 control chromosomes"	"{PMID:Park 2003:12955717}"	""	"IVS19+28T>C"	""	"Germline"	""	""	"0"	""	""	"g.23539327A>G"	""	"benign"	""
"0000922352"	"0"	"10"	"18"	"21116864"	"21116864"	"subst"	"0"	"00006"	"NPC1_000251"	"g.21116864A>G"	""	"{PMID:Park 2003:12955717}"	""	"IVS20-24T>C"	""	"Germline"	""	""	"0"	""	""	"g.23536900A>G"	""	"benign"	""
"0000922353"	"0"	"10"	"18"	"21116665"	"21116665"	"subst"	"0.00111714"	"00006"	"NPC1_000028"	"g.21116665C>T"	""	"{PMID:Park 2003:12955717}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23536701C>T"	""	"benign"	""
"0000922354"	"0"	"10"	"18"	"21115710"	"21115710"	"subst"	"0.0394458"	"00006"	"NPC1_000240"	"g.21115710G>A"	"2/100 control chromosomes"	"{PMID:Park 2003:12955717}"	""	"IVS21-46C>T"	""	"Germline"	""	""	"0"	""	""	"g.23535746G>A"	""	"benign"	""
"0000922355"	"0"	"10"	"18"	"21113523"	"21113523"	"subst"	"0.00249439"	"00006"	"NPC1_000223"	"g.21113523C>G"	"1/100 control chromosomes"	"{PMID:Park 2003:12955717}"	""	"IVS23-42G>C"	""	"Germline"	""	""	"0"	""	""	"g.23533559C>G"	""	"benign"	""
"0000922356"	"0"	"10"	"18"	"21113285"	"21113285"	"subst"	"0.508299"	"00006"	"NPC1_000215"	"g.21113285T>C"	"47/100 control chromosomes"	"{PMID:Park 2003:12955717}"	""	"IVS24+34A>G"	""	"Germline"	""	""	"0"	""	""	"g.23533321T>C"	""	"benign"	""
"0000922357"	"0"	"10"	"18"	"21112206"	"21112206"	"subst"	"0.0712626"	"00006"	"NPC1_000011"	"g.21112206C>T"	"3/100 control chromosomes"	"{PMID:Park 2003:12955717}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23532242C>T"	""	"benign"	""
"0000922358"	"0"	"10"	"18"	"0"	"0"	""	""	"00006"	"SMCHD1_000000"	"g.?"	"1/100 control chromosomes"	"{PMID:Park 2003:12955717}"	""	"IVS25+635G>T"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000922359"	"0"	"10"	"18"	"21140432"	"21140432"	"subst"	"0.332364"	"00006"	"NPC1_000085"	"g.21140432T>C"	""	"{PMID:Morris 1999:10425213}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23560468T>C"	""	"benign"	""
"0000922360"	"0"	"10"	"18"	"21137201"	"21137201"	"subst"	"0"	"00006"	"NPC1_000336"	"g.21137201T>G"	""	"{PMID:Morris 1999:10425213}"	""	"IVS6-47A>C"	""	"Germline"	""	""	"0"	""	""	"g.23557237T>G"	""	"benign"	""
"0000922361"	"0"	"10"	"18"	"21136535"	"21136535"	"subst"	"0"	"00006"	"NPC1_000334"	"g.21136535C>T"	""	"{PMID:Morris 1999:10425213}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23556571C>T"	""	"benign"	""
"0000922362"	"0"	"10"	"18"	"21134860"	"21134860"	"subst"	"0"	"00006"	"NPC1_000323"	"g.21134860A>G"	""	"{PMID:Morris 1999:10425213}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23554896A>G"	""	"benign"	""
"0000922363"	"0"	"10"	"18"	"21131351"	"21131351"	"subst"	"0"	"00006"	"NPC1_000315"	"g.21131351T>C"	""	"{PMID:Morris 1999:10425213}"	""	"IVS10+240A>G"	""	"Germline"	""	""	"0"	""	""	"g.23551387T>C"	""	"benign"	""
"0000922364"	"0"	"10"	"18"	"21127972"	"21127972"	"subst"	"0"	"00006"	"NPC1_000313"	"g.21127972T>C"	""	"{PMID:Morris 1999:10425213}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23548008T>C"	""	"benign"	""
"0000922365"	"0"	"10"	"18"	"21127870"	"21127870"	"="	"0"	"00006"	"NPC1_000309"	"g.21127870="	""	"{PMID:Morris 1999:10425213}"	""	"IVS11+100G>A"	""	"Germline"	""	""	"0"	""	""	"g.23547906="	""	"benign"	""
"0000922366"	"0"	"10"	"18"	"21125291"	"21125291"	"="	"0"	"00006"	"NPC1_000308"	"g.21125291="	""	"{PMID:Morris 1999:10425213}"	""	"IVS11-178A>G"	""	"Germline"	""	""	"0"	""	""	"g.23545327="	""	"benign"	""
"0000922367"	"0"	"10"	"18"	"21125135"	"21125135"	"subst"	"0.000126357"	"00006"	"NPC1_000307"	"g.21125135A>G"	""	"{PMID:Morris 1999:10425213}"	""	"IVS11-22T>C"	""	"Germline"	""	""	"0"	""	""	"g.23545171A>G"	""	"benign"	""
"0000922368"	"0"	"10"	"18"	"21124945"	"21124945"	"subst"	"0.727274"	"00006"	"NPC1_000069"	"g.21124945C>G"	""	"{PMID:Morris 1999:10425213}"	""	"1926C>G (I642M)"	""	"Germline"	""	""	"0"	""	""	"g.23544981C>G"	""	"benign"	""
"0000922369"	"0"	"10"	"18"	"21123717"	"21123717"	"subst"	"0"	"00006"	"NPC1_000296"	"g.21123717C>T"	""	"{PMID:Morris 1999:10425213}"	""	"IVS13+591G>A"	""	"Germline"	""	""	"0"	""	""	"g.23543753C>T"	""	"benign"	""
"0000922370"	"0"	"10"	"18"	"21123738"	"21123738"	"subst"	"0"	"00006"	"NPC1_000297"	"g.21123738A>T"	""	"{PMID:Morris 1999:10425213}"	""	"IVS13+570T>A"	""	"Germline"	""	""	"0"	""	""	"g.23543774A>T"	""	"benign"	""
"0000922371"	"0"	"10"	"18"	"21123875"	"21123875"	"subst"	"0"	"00006"	"NPC1_000298"	"g.21123875T>C"	""	"{PMID:Morris 1999:10425213}"	""	"IVS13+433A>G"	""	"Germline"	""	""	"0"	""	""	"g.23543911T>C"	""	"benign"	""
"0000922372"	"0"	"10"	"18"	"21123554"	"21123554"	"del"	"0"	"00006"	"NPC1_000041"	"g.21123554del"	""	"{PMID:Morris 1999:10425213}"	""	"IVS13+754delT"	""	"Germline"	""	""	"0"	""	""	"g.23543590del"	""	"benign"	""
"0000922373"	"0"	"10"	"18"	"21123553"	"21123554"	"del"	"0"	"00006"	"NPC1_000042"	"g.21123553_21123554del"	""	"{PMID:Morris 1999:10425213}"	""	"IVS13+754-755delTT"	""	"Germline"	""	""	"0"	""	""	"g.23543589_23543590del"	""	"benign"	""
"0000922374"	"0"	"10"	"18"	"21123438"	"21123438"	"subst"	"0"	"00006"	"NPC1_000295"	"g.21123438C>T"	""	"{PMID:Morris 1999:10425213}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23543474C>T"	""	"benign"	""
"0000922375"	"0"	"10"	"18"	"21123309"	"21123310"	"del"	"0"	"00006"	"NPC1_000293"	"g.21123309_21123310del"	""	"{PMID:Morris 1999:10425213}"	""	"IVS14+121-122delTT"	""	"Germline"	""	""	"0"	""	""	"g.23543345_23543346del"	""	"benign"	""
"0000922376"	"0"	"10"	"18"	"21123324"	"21123324"	"del"	"0"	"00006"	"NPC1_000294"	"g.21123324del"	""	"{PMID:Morris 1999:10425213}"	""	"IVS14+95delT"	""	"Germline"	""	""	"0"	""	""	"g.23543360del"	""	"benign"	""
"0000922377"	"0"	"10"	"18"	"21121421"	"21121421"	"subst"	"0"	"00006"	"NPC1_000292"	"g.21121421C>T"	""	"{PMID:Morris 1999:10425213}"	""	"IVS14-24G>A"	""	"Germline"	""	""	"0"	""	""	"g.23541457C>T"	""	"benign"	""
"0000922378"	"0"	"10"	"18"	"21121373"	"21121373"	"subst"	"0"	"00006"	"NPC1_000291"	"g.21121373A>G"	""	"{PMID:Morris 1999:10425213}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23541409A>G"	""	"benign"	""
"0000922379"	"0"	"10"	"18"	"21120869"	"21120869"	"="	"0"	"00006"	"NPC1_000286"	"g.21120869="	""	"{PMID:Morris 1999:10425213}"	""	"IVS16+163C>T"	""	"Germline"	""	""	"0"	""	""	"g.23540905="	""	"benign"	""
"0000922380"	"0"	"10"	"18"	"21120444"	"21120444"	"subst"	"0.499935"	"00006"	"NPC1_000009"	"g.21120444T>C"	""	"{PMID:Morris 1999:10425213}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23540480T>C"	""	"benign"	""
"0000922381"	"0"	"10"	"18"	"21120395"	"21120397"	"del"	"0"	"00006"	"NPC1_000282"	"g.21120395_21120397del"	""	"{PMID:Morris 1999:10425213}"	""	"IVS17+15-17delTTT"	""	"Germline"	""	""	"0"	""	""	"g.23540431_23540433del"	""	"benign"	""
"0000922382"	"0"	"10"	"18"	"21120397"	"21120397"	"del"	"0"	"00006"	"NPC1_000037"	"g.21120397del"	""	"{PMID:Morris 1999:10425213}"	""	"IVS17+15delT"	""	"Germline"	""	""	"0"	""	""	"g.23540433del"	""	"benign"	""
"0000922383"	"0"	"10"	"18"	"21120034"	"21120034"	"subst"	"0"	"00006"	"NPC1_000281"	"g.21120034A>C"	""	"{PMID:Morris 1999:10425213}"	""	"IVS17+378A>G"	""	"Germline"	""	""	"0"	""	""	"g.23540070A>C"	""	"benign"	""
"0000922384"	"0"	"10"	"18"	"21119777"	"21119777"	"subst"	"0.499024"	"00006"	"NPC1_000010"	"g.21119777G>A"	""	"{PMID:Morris 1999:10425213}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23539813G>A"	""	"benign"	""
"0000922385"	"0"	"10"	"18"	"21119291"	"21119291"	"subst"	"0.524922"	"00006"	"NPC1_000114"	"g.21119291A>G"	""	"{PMID:Morris 1999:10425213}"	""	"IVS19+28T>C"	""	"Germline"	""	""	"0"	""	""	"g.23539327A>G"	""	"benign"	""
"0000922386"	"0"	"10"	"18"	"21116998"	"21116998"	"subst"	"0"	"00006"	"NPC1_000252"	"g.21116998A>G"	""	"{PMID:Morris 1999:10425213}"	""	"IVS20-158T>C"	""	"Germline"	""	""	"0"	""	""	"g.23537034A>G"	""	"benign"	""
"0000922387"	"0"	"10"	"18"	"21115944"	"21115944"	"subst"	"0"	"00006"	"NPC1_000241"	"g.21115944C>T"	""	"{PMID:Morris 1999:10425213}"	""	"IVS21-280G>A"	""	"Germline"	""	""	"0"	""	""	"g.23535980C>T"	""	"benign"	""
"0000922388"	"0"	"10"	"18"	"21115976"	"21115976"	"del"	"0"	"00006"	"NPC1_000242"	"g.21115976del"	""	"{PMID:Morris 1999:10425213}"	""	"IVS21-306delT"	""	"Germline"	""	""	"0"	""	""	"g.23536012del"	""	"benign"	""
"0000922389"	"0"	"10"	"18"	"21113414"	"21113414"	"subst"	"0"	"00006"	"NPC1_000220"	"g.21113414A>G"	""	"{PMID:Morris 1999:10425213}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23533450A>G"	""	"benign"	""
"0000922390"	"0"	"10"	"18"	"21113244"	"21113244"	"subst"	"0"	"00006"	"NPC1_000214"	"g.21113244A>T"	""	"{PMID:Morris 1999:10425213}"	""	"IVS24+75T>A"	""	"Germline"	""	""	"0"	""	""	"g.23533280A>T"	""	"benign"	""
"0000922391"	"0"	"10"	"18"	"21112371"	"21112371"	"subst"	"0"	"00006"	"NPC1_000213"	"g.21112371G>A"	""	"{PMID:Morris 1999:10425213}"	""	"IVS24-123C>T"	""	"Germline"	""	""	"0"	""	""	"g.23532407G>A"	""	"benign"	""
"0000922392"	"0"	"10"	"18"	"21112323"	"21112323"	"subst"	"0"	"00006"	"NPC1_000211"	"g.21112323C>T"	""	"{PMID:Morris 1999:10425213}"	""	"IVS24-75G>A"	""	"Germline"	""	""	"0"	""	""	"g.23532359C>T"	""	"benign"	""
"0000922393"	"0"	"10"	"18"	"21112337"	"21112337"	"subst"	"0"	"00006"	"NPC1_000212"	"g.21112337T>C"	""	"{PMID:Morris 1999:10425213}"	""	"IVS24-89A>G"	""	"Germline"	""	""	"0"	""	""	"g.23532373T>C"	""	"benign"	""
"0000922717"	"3"	"70"	"18"	"21124428"	"21124428"	"subst"	"0"	"00006"	"NPC1_000299"	"g.21124428G>C"	""	"{PMID:Bauer 2002:11754101}"	""	"C670W"	""	"Germline"	""	""	"0"	""	""	"g.23544464G>C"	""	"likely pathogenic (recessive)"	""
"0000922718"	"3"	"70"	"18"	"21121072"	"21121072"	"subst"	"1.2183E-5"	"00006"	"NPC1_000119"	"g.21121072T>C"	""	"{PMID:Bauer 2002:11754101}"	""	"I825C"	""	"Germline"	""	""	"0"	""	""	"g.23541108T>C"	""	"likely pathogenic (recessive)"	""
"0000922719"	"3"	"70"	"18"	"21118528"	"21118528"	"subst"	"0.000117761"	"00006"	"NPC1_000101"	"g.21118528G>C"	""	"{PMID:Bauer 2002:11754101}"	""	"P1007A"	""	"Germline"	""	""	"0"	""	""	"g.23538564G>C"	""	"likely pathogenic (recessive)"	""
"0000922720"	"3"	"70"	"18"	"21118528"	"21118528"	"subst"	"0.000117761"	"00006"	"NPC1_000101"	"g.21118528G>C"	""	"{PMID:Bauer 2002:11754101}"	""	"P1007A"	""	"Germline"	""	""	"0"	""	""	"g.23538564G>C"	""	"likely pathogenic (recessive)"	""
"0000922721"	"11"	"70"	"18"	"21134740"	"21134740"	"subst"	"0"	"00006"	"NPC1_000320"	"g.21134740T>C"	""	"{PMID:Bauer 2002:11754101}"	""	"H512R"	""	"Germline"	""	""	"0"	""	""	"g.23554776T>C"	""	"likely pathogenic (recessive)"	""
"0000922722"	"1"	"70"	"18"	"21119949"	"21119949"	"subst"	"5.2803E-5"	"00006"	"NPC1_000116"	"g.21119949T>A"	""	"{PMID:Bauer 2002:11754101}"	""	"D874V"	""	"Germline"	""	""	"0"	""	""	"g.23539985T>A"	""	"likely pathogenic (recessive)"	""
"0000922723"	"21"	"70"	"18"	"21119357"	"21119357"	"subst"	"0"	"00006"	"NPC1_000210"	"g.21119357C>A"	""	"{PMID:Bauer 2002:11754101}"	""	"R958L"	""	"Germline"	""	""	"0"	""	""	"g.23539393C>A"	""	"likely pathogenic (recessive)"	""
"0000922724"	"11"	"70"	"18"	"21125052"	"21125052"	"subst"	"0"	"00006"	"NPC1_000306"	"g.21125052G>A"	""	"{PMID:Bauer 2002:11754101}"	""	"R607X"	""	"Germline"	""	""	"0"	""	""	"g.23545088G>A"	""	"likely pathogenic (recessive)"	""
"0000922725"	"11"	"70"	"18"	"21120470"	"21120470"	"subst"	"0"	"00006"	"NPC1_000285"	"g.21120470C>A"	""	"{PMID:Bauer 2002:11754101}"	""	"S849I"	"no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.23540506C>A"	""	"likely pathogenic (recessive)"	""
"0000922726"	"1"	"70"	"18"	"21119369"	"21119369"	"subst"	"7.31999E-5"	"00006"	"NPC1_000002"	"g.21119369G>A"	""	"{PMID:Bauer 2002:11754101}"	""	"S954L"	"no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.23539405G>A"	""	"likely pathogenic (recessive)"	""
"0000922727"	"21"	"70"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Bauer 2002:11754101}"	""	"I1061T/-238C>G"	"no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"likely pathogenic (recessive)"	""
"0000922728"	"1"	"70"	"18"	"21118528"	"21118528"	"subst"	"0.000117761"	"00006"	"NPC1_000101"	"g.21118528G>C"	""	"{PMID:Bauer 2002:11754101}"	""	"P1007A"	"no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.23538564G>C"	""	"likely pathogenic (recessive)"	""
"0000922729"	"21"	"70"	"18"	"21118528"	"21118528"	"subst"	"0.000117761"	"00006"	"NPC1_000101"	"g.21118528G>C"	""	"{PMID:Bauer 2002:11754101}"	""	"P1007A"	""	"Germline"	""	""	"0"	""	""	"g.23538564G>C"	""	"likely pathogenic (recessive)"	""
"0000922730"	"2"	"70"	"18"	"21119388"	"21119388"	"subst"	"0"	"00006"	"NPC1_000266"	"g.21119388C>A"	""	"{PMID:Bauer 2002:11754101}"	""	"D948Y"	""	"Germline"	""	""	"0"	""	""	"g.23539424C>A"	""	"likely pathogenic (recessive)"	""
"0000922731"	"11"	"70"	"18"	"21116786"	"21116787"	"del"	"0"	"00006"	"NPC1_000248"	"g.21116786_21116787del"	""	"{PMID:Bauer 2002:11754101}"	""	"R1032fs1049X"	""	"Germline"	""	""	"0"	""	""	"g.23536822_23536823del"	""	"likely pathogenic (recessive)"	""
"0000922732"	"21"	"70"	"18"	"0"	"0"	""	""	"00006"	"SMCHD1_000000"	"g.?"	""	"{PMID:Bauer 2002:11754101}"	""	"del ex4-12(16)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000922796"	"1"	"90"	"18"	"21121319"	"21121319"	"subst"	"8.12203E-6"	"00006"	"NPC1_000289"	"g.21121319T>G"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23541355T>G"	""	"pathogenic (recessive)"	""
"0000922797"	"1"	"90"	"18"	"21116637"	"21116637"	"dup"	"0"	"00006"	"NPC1_000360"	"g.21116637dup"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	"IVS21+2insG (g.5187_5188insG)"	"no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.23536673dup"	""	"pathogenic"	""
"0000922798"	"1"	"90"	"18"	"21141425"	"21141425"	"subst"	"0"	"00006"	"NPC1_000343"	"g.21141425C>T"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	"no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.23561461C>T"	""	"pathogenic"	""
"0000922799"	"1"	"90"	"18"	"21119404"	"21119404"	"subst"	"0"	"00006"	"NPC1_000366"	"g.21119404C>A"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	"2820G>T (W942C)"	""	"Germline"	""	""	"0"	""	""	"g.23539440C>A"	""	"pathogenic (recessive)"	""
"0000922800"	"1"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic (recessive)"	""
"0000922801"	"3"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic (recessive)"	""
"0000922802"	"1"	"90"	"18"	"21137140"	"21137140"	"dup"	"0"	"00006"	"NPC1_000381"	"g.21137140dup"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	"895_896insT"	"no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.23557176dup"	""	"pathogenic"	""
"0000922803"	"3"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic (recessive)"	""
"0000922804"	"3"	"90"	"18"	"21121319"	"21121319"	"subst"	"8.12203E-6"	"00006"	"NPC1_000289"	"g.21121319T>G"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23541355T>G"	""	"pathogenic (recessive)"	""
"0000922805"	"3"	"90"	"18"	"21116778"	"21116778"	"subst"	"8.12163E-6"	"00006"	"NPC1_000247"	"g.21116778G>A"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23536814G>A"	""	"pathogenic (recessive)"	""
"0000922806"	"1"	"90"	"18"	"21120422"	"21120422"	"subst"	"0"	"00006"	"NPC1_000283"	"g.21120422G>A"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23540458G>A"	""	"pathogenic (recessive)"	""
"0000922807"	"1"	"90"	"18"	"21121319"	"21121319"	"subst"	"8.12203E-6"	"00006"	"NPC1_000289"	"g.21121319T>G"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23541355T>G"	""	"pathogenic (recessive)"	""
"0000922808"	"3"	"90"	"18"	"21128053"	"21128054"	"ins"	"0"	"00006"	"NPC1_000375"	"g.21128053_21128054insC"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23548089_23548090insC"	""	"pathogenic (recessive)"	""
"0000922809"	"3"	"90"	"18"	"21141425"	"21141425"	"subst"	"0"	"00006"	"NPC1_000343"	"g.21141425C>T"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23561461C>T"	""	"pathogenic (recessive)"	""
"0000922810"	"1"	"90"	"18"	"21136419"	"21136419"	"subst"	"1.62621E-5"	"00006"	"NPC1_000379"	"g.21136419G>A"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23556455G>A"	""	"pathogenic (recessive)"	""
"0000922811"	"3"	"90"	"18"	"21118574"	"21118574"	"del"	"0"	"00006"	"NPC1_000256"	"g.21118574del"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	"2973_78delG"	""	"Germline"	""	""	"0"	""	""	"g.23538610del"	""	"pathogenic (recessive)"	""
"0000922812"	"1"	"90"	"18"	"21141425"	"21141425"	"subst"	"0"	"00006"	"NPC1_000343"	"g.21141425C>T"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23561461C>T"	""	"pathogenic (recessive)"	""
"0000922813"	"1"	"90"	"18"	"21123485"	"21123485"	"subst"	"0"	"00006"	"NPC1_000369"	"g.21123485C>A"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23543521C>A"	""	"pathogenic (recessive)"	""
"0000922814"	"1"	"90"	"18"	"21118574"	"21118574"	"del"	"0"	"00006"	"NPC1_000256"	"g.21118574del"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23538610del"	""	"pathogenic (recessive)"	""
"0000922815"	"1"	"90"	"18"	"21136259"	"21136259"	"subst"	"0"	"00006"	"NPC1_000378"	"g.21136259G>T"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	"no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.23556295G>T"	""	"pathogenic"	""
"0000922816"	"1"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic (recessive)"	""
"0000922817"	"1"	"90"	"18"	"21118528"	"21118528"	"subst"	"0.000117761"	"00006"	"NPC1_000101"	"g.21118528G>C"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23538564G>C"	""	"pathogenic (recessive)"	""
"0000922818"	"1"	"90"	"18"	"21136232"	"21136232"	"subst"	"1.62485E-5"	"00006"	"NPC1_000377"	"g.21136232G>A"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23556268G>A"	""	"pathogenic (recessive)"	""
"0000922819"	"1"	"90"	"18"	"21137080"	"21137080"	"subst"	"0"	"00006"	"NPC1_000380"	"g.21137080C>T"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	"IVS7+1G>A (g.31432G>A)"	""	"Germline"	""	""	"0"	""	""	"g.23557116C>T"	""	"pathogenic (recessive)"	""
"0000922820"	"1"	"90"	"18"	"21136259"	"21136259"	"subst"	"0"	"00006"	"NPC1_000378"	"g.21136259G>T"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23556295G>T"	""	"pathogenic (recessive)"	""
"0000922821"	"1"	"90"	"18"	"21119400"	"21119400"	"subst"	"1.22413E-5"	"00006"	"NPC1_000102"	"g.21119400C>T"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	"2830C>A (D944N)"	""	"Germline"	""	""	"0"	""	""	"g.23539436C>T"	""	"pathogenic (recessive)"	""
"0000922822"	"1"	"90"	"18"	"21148904"	"21148904"	"subst"	"4.06207E-6"	"00006"	"NPC1_000209"	"g.21148904G>A"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23568940G>A"	""	"pathogenic (recessive)"	""
"0000922823"	"1"	"90"	"18"	"21134839"	"21134839"	"subst"	"0"	"00006"	"NPC1_000376"	"g.21134839C>T"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	"no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.23554875C>T"	""	"pathogenic"	""
"0000922824"	"1"	"90"	"18"	"21118528"	"21118528"	"subst"	"0.000117761"	"00006"	"NPC1_000101"	"g.21118528G>C"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23538564G>C"	""	"pathogenic (recessive)"	""
"0000922825"	"1"	"90"	"18"	"21119794"	"21119794"	"subst"	"8.12434E-6"	"00006"	"NPC1_000272"	"g.21119794C>T"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23539830C>T"	""	"pathogenic (recessive)"	""
"0000922826"	"1"	"90"	"18"	"21121309"	"21121309"	"dup"	"0"	"00006"	"NPC1_000367"	"g.21121309dup"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23541345dup"	""	"pathogenic (recessive)"	""
"0000922827"	"1"	"90"	"18"	"21141425"	"21141425"	"subst"	"0"	"00006"	"NPC1_000343"	"g.21141425C>T"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23561461C>T"	""	"pathogenic (recessive)"	""
"0000922828"	"1"	"90"	"18"	"21141425"	"21141425"	"subst"	"0"	"00006"	"NPC1_000343"	"g.21141425C>T"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23561461C>T"	""	"pathogenic (recessive)"	""
"0000922829"	"1"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic (recessive)"	""
"0000922830"	"3"	"90"	"18"	"21116707"	"21116707"	"subst"	"0"	"00006"	"NPC1_000246"	"g.21116707G>A"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23536743G>A"	""	"pathogenic (recessive)"	""
"0000922831"	"1"	"90"	"18"	"21119333"	"21119348"	"delins"	"0"	"00006"	"NPC1_000262"	"g.21119333_21119348delinsC"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	"2897delATATCACTGACCAGTT2897_2898insG"	"no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.23539369_23539384delinsC"	""	"pathogenic"	""
"0000922832"	"1"	"90"	"18"	"21128000"	"21128000"	"subst"	"1.21887E-5"	"00006"	"NPC1_000373"	"g.21128000T>C"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23548036T>C"	""	"pathogenic (recessive)"	""
"0000922833"	"1"	"90"	"18"	"21113319"	"21113319"	"subst"	"0"	"00006"	"NPC1_000356"	"g.21113319C>K"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	"G1252R"	"no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.23533355C>K"	""	"pathogenic"	""
"0000922834"	"3"	"90"	"18"	"21118574"	"21118574"	"del"	"0"	"00006"	"NPC1_000256"	"g.21118574del"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23538610del"	""	"pathogenic (recessive)"	""
"0000922835"	"1"	"90"	"18"	"21124936"	"21124936"	"subst"	"0"	"00006"	"NPC1_000371"	"g.21124936A>T"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	"no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.23544972A>T"	""	"pathogenic"	""
"0000922836"	"2"	"90"	"18"	"21115443"	"21115443"	"subst"	"0"	"00006"	"NPC1_000359"	"g.21115443T>A"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23535479T>A"	""	"pathogenic (recessive)"	""
"0000922837"	"2"	"90"	"18"	"21119333"	"21119348"	"delins"	"0"	"00006"	"NPC1_000262"	"g.21119333_21119348delinsC"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	"2897delATATCACTGACCAGTT2897_2898insG"	""	"Germline"	""	""	"0"	""	""	"g.23539369_23539384delinsC"	""	"pathogenic (recessive)"	""
"0000922838"	"2"	"90"	"18"	"21115443"	"21115443"	"subst"	"2.05073E-5"	"00006"	"NPC1_000174"	"g.21115443T>C"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23535479T>C"	""	"pathogenic (recessive)"	""
"0000922839"	"2"	"90"	"18"	"21116707"	"21116707"	"subst"	"0"	"00006"	"NPC1_000246"	"g.21116707G>A"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23536743G>A"	""	"pathogenic (recessive)"	""
"0000922840"	"2"	"90"	"18"	"21113401"	"21113401"	"subst"	"0"	"00006"	"NPC1_000357"	"g.21113401G>C"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23533437G>C"	""	"pathogenic (recessive)"	""
"0000922841"	"2"	"90"	"18"	"21116775"	"21116775"	"subst"	"0"	"00006"	"NPC1_000362"	"g.21116775G>T"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23536811G>T"	""	"pathogenic (recessive)"	""
"0000922842"	"2"	"90"	"18"	"21119354"	"21119354"	"subst"	"0"	"00006"	"NPC1_000364"	"g.21119354A>T"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23539390A>T"	""	"pathogenic (recessive)"	""
"0000922843"	"2"	"90"	"18"	"21116778"	"21116778"	"subst"	"8.12163E-6"	"00006"	"NPC1_000247"	"g.21116778G>A"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23536814G>A"	""	"pathogenic (recessive)"	""
"0000922844"	"2"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"00006"	"NPC1_000030"	"g.21116700A>G"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23536736A>G"	""	"pathogenic (recessive)"	""
"0000922845"	"2"	"90"	"18"	"21140296"	"21140296"	"subst"	"0"	"00006"	"NPC1_000382"	"g.21140296C>T"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23560332C>T"	""	"pathogenic (recessive)"	""
"0000922846"	"2"	"90"	"18"	"21116707"	"21116707"	"subst"	"0"	"00006"	"NPC1_000246"	"g.21116707G>A"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23536743G>A"	""	"pathogenic (recessive)"	""
"0000922847"	"2"	"90"	"18"	"21121382"	"21121382"	"subst"	"0"	"00006"	"NPC1_000368"	"g.21121382A>T"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23541418A>T"	""	"pathogenic (recessive)"	""
"0000922848"	"2"	"90"	"18"	"21119404"	"21119404"	"subst"	"0"	"00006"	"NPC1_000366"	"g.21119404C>A"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	"2819G>T (W942C)"	""	"Germline"	""	""	"0"	""	""	"g.23539440C>A"	""	"pathogenic (recessive)"	""
"0000922849"	"2"	"90"	"18"	"21134854"	"21134854"	"subst"	"2.03061E-5"	"00006"	"NPC1_000321"	"g.21134854G>A"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23554890G>A"	""	"pathogenic (recessive)"	""
"0000922850"	"2"	"90"	"18"	"21118528"	"21118528"	"subst"	"0.000117761"	"00006"	"NPC1_000101"	"g.21118528G>C"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23538564G>C"	""	"pathogenic (recessive)"	""
"0000922851"	"2"	"90"	"18"	"21121319"	"21121319"	"subst"	"8.12203E-6"	"00006"	"NPC1_000289"	"g.21121319T>G"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23541355T>G"	""	"pathogenic (recessive)"	""
"0000922852"	"2"	"90"	"18"	"21116685"	"21116685"	"subst"	"8.12203E-6"	"00006"	"NPC1_000361"	"g.21116685G>T"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23536721G>T"	""	"pathogenic (recessive)"	""
"0000922853"	"2"	"90"	"18"	"21119388"	"21119388"	"subst"	"0"	"00006"	"NPC1_000365"	"g.21119388C>G"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23539424C>G"	""	"pathogenic (recessive)"	""
"0000922854"	"2"	"90"	"18"	"21118528"	"21118528"	"subst"	"0.000117761"	"00006"	"NPC1_000101"	"g.21118528G>C"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23538564G>C"	""	"pathogenic (recessive)"	""
"0000922855"	"2"	"90"	"18"	"21124448"	"21124448"	"subst"	"8.12711E-6"	"00006"	"NPC1_000370"	"g.21124448C>T"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23544484C>T"	""	"pathogenic (recessive)"	""
"0000922856"	"2"	"90"	"18"	"21124448"	"21124448"	"subst"	"8.12711E-6"	"00006"	"NPC1_000370"	"g.21124448C>T"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23544484C>T"	""	"pathogenic (recessive)"	""
"0000922857"	"2"	"90"	"18"	"21148840"	"21148840"	"subst"	"8.12387E-6"	"00006"	"NPC1_000188"	"g.21148840G>A"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23568876G>A"	""	"pathogenic (recessive)"	""
"0000922858"	"2"	"90"	"18"	"21113414"	"21113414"	"del"	"0"	"00006"	"NPC1_000358"	"g.21113414del"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	"3662delT"	""	"Germline"	""	""	"0"	""	""	"g.23533450del"	""	"pathogenic (recessive)"	""
"0000922859"	"0"	"10"	"18"	"21140432"	"21140432"	"subst"	"0.332364"	"00006"	"NPC1_000085"	"g.21140432T>C"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23560468T>C"	""	"benign"	""
"0000922860"	"0"	"10"	"18"	"21124945"	"21124945"	"subst"	"0.727274"	"00006"	"NPC1_000069"	"g.21124945C>G"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	"I642M"	""	"Germline"	""	""	"0"	""	""	"g.23544981C>G"	""	"benign"	""
"0000922861"	"0"	"10"	"18"	"21120444"	"21120444"	"subst"	"0.499935"	"00006"	"NPC1_000009"	"g.21120444T>C"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23540480T>C"	""	"benign"	""
"0000922862"	"0"	"10"	"18"	"21124945"	"21124945"	"subst"	"0.727274"	"00006"	"NPC1_000069"	"g.21124945C>G"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	"I642M"	""	"Germline"	""	""	"0"	""	""	"g.23544981C>G"	""	"benign"	""
"0000922863"	"0"	"10"	"18"	"21148863"	"21148863"	"subst"	"0.143702"	"00006"	"NPC1_000092"	"g.21148863A>G"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23568899A>G"	""	"benign"	""
"0000922864"	"0"	"10"	"18"	"21124945"	"21124945"	"subst"	"0.727274"	"00006"	"NPC1_000069"	"g.21124945C>G"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	"I642M"	""	"Germline"	""	""	"0"	""	""	"g.23544981C>G"	""	"benign"	""
"0000922865"	"0"	"10"	"18"	"21124945"	"21124945"	"subst"	"0.727274"	"00006"	"NPC1_000069"	"g.21124945C>G"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	"I642M"	""	"Germline"	""	""	"0"	""	""	"g.23544981C>G"	""	"benign"	""
"0000922866"	"0"	"10"	"18"	"21140432"	"21140432"	"subst"	"0.332364"	"00006"	"NPC1_000085"	"g.21140432T>C"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23560468T>C"	""	"benign"	""
"0000922867"	"0"	"10"	"18"	"21140432"	"21140432"	"subst"	"0.332364"	"00006"	"NPC1_000085"	"g.21140432T>C"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23560468T>C"	""	"benign"	""
"0000922868"	"0"	"10"	"18"	"21124945"	"21124945"	"subst"	"0.727274"	"00006"	"NPC1_000069"	"g.21124945C>G"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	"I642M"	""	"Germline"	""	""	"0"	""	""	"g.23544981C>G"	""	"benign"	""
"0000922869"	"0"	"10"	"18"	"21124945"	"21124945"	"subst"	"0.727274"	"00006"	"NPC1_000069"	"g.21124945C>G"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	"I642M"	""	"Germline"	""	""	"0"	""	""	"g.23544981C>G"	""	"benign"	""
"0000922870"	"0"	"10"	"18"	"21124945"	"21124945"	"subst"	"0.727274"	"00006"	"NPC1_000069"	"g.21124945C>G"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	"I642M"	""	"Germline"	""	""	"0"	""	""	"g.23544981C>G"	""	"benign"	""
"0000922871"	"3"	"10"	"18"	"21140432"	"21140432"	"subst"	"0.332364"	"00006"	"NPC1_000085"	"g.21140432T>C"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23560468T>C"	""	"benign"	""
"0000922872"	"0"	"10"	"18"	"21148863"	"21148863"	"subst"	"0.143702"	"00006"	"NPC1_000092"	"g.21148863A>G"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23568899A>G"	""	"benign"	""
"0000922873"	"0"	"10"	"18"	"21124945"	"21124945"	"subst"	"0.727274"	"00006"	"NPC1_000069"	"g.21124945C>G"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	"I642M"	""	"Germline"	""	""	"0"	""	""	"g.23544981C>G"	""	"benign"	""
"0000922874"	"3"	"10"	"18"	"21140432"	"21140432"	"subst"	"0.332364"	"00006"	"NPC1_000085"	"g.21140432T>C"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23560468T>C"	""	"benign"	""
"0000922875"	"0"	"10"	"18"	"21120444"	"21120444"	"subst"	"0.499935"	"00006"	"NPC1_000009"	"g.21120444T>C"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23540480T>C"	""	"benign"	""
"0000922876"	"0"	"10"	"18"	"21140432"	"21140432"	"subst"	"0.332364"	"00006"	"NPC1_000085"	"g.21140432T>C"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23560468T>C"	""	"benign"	""
"0000922877"	"0"	"10"	"18"	"21124945"	"21124945"	"subst"	"0.727274"	"00006"	"NPC1_000069"	"g.21124945C>G"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	"I642M"	""	"Germline"	""	""	"0"	""	""	"g.23544981C>G"	""	"benign"	""
"0000922878"	"0"	"10"	"18"	"21140432"	"21140432"	"subst"	"0.332364"	"00006"	"NPC1_000085"	"g.21140432T>C"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23560468T>C"	""	"benign"	""
"0000922879"	"0"	"10"	"18"	"21124945"	"21124945"	"subst"	"0.727274"	"00006"	"NPC1_000069"	"g.21124945C>G"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	"I642M"	""	"Germline"	""	""	"0"	""	""	"g.23544981C>G"	""	"benign"	""
"0000922880"	"0"	"10"	"18"	"21124945"	"21124945"	"subst"	"0.727274"	"00006"	"NPC1_000069"	"g.21124945C>G"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	"I642M"	""	"Germline"	""	""	"0"	""	""	"g.23544981C>G"	""	"benign"	""
"0000922881"	"0"	"10"	"18"	"21112206"	"21112206"	"subst"	"0.0712626"	"00006"	"NPC1_000011"	"g.21112206C>T"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23532242C>T"	""	"benign"	""
"0000922882"	"0"	"10"	"18"	"21124945"	"21124945"	"subst"	"0.727274"	"00006"	"NPC1_000069"	"g.21124945C>G"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	"I642M"	""	"Germline"	""	""	"0"	""	""	"g.23544981C>G"	""	"benign"	""
"0000922883"	"0"	"10"	"18"	"21140432"	"21140432"	"subst"	"0.332364"	"00006"	"NPC1_000085"	"g.21140432T>C"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23560468T>C"	""	"benign"	""
"0000922884"	"0"	"10"	"18"	"21124945"	"21124945"	"subst"	"0.727274"	"00006"	"NPC1_000069"	"g.21124945C>G"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	"I642M"	""	"Germline"	""	""	"0"	""	""	"g.23544981C>G"	""	"benign"	""
"0000922885"	"0"	"10"	"18"	"21120444"	"21120444"	"subst"	"0.499935"	"00006"	"NPC1_000009"	"g.21120444T>C"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23540480T>C"	""	"benign"	""
"0000922886"	"0"	"10"	"18"	"21140432"	"21140432"	"subst"	"0.332364"	"00006"	"NPC1_000085"	"g.21140432T>C"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23560468T>C"	""	"benign"	""
"0000922887"	"0"	"10"	"18"	"21120444"	"21120444"	"subst"	"0.499935"	"00006"	"NPC1_000009"	"g.21120444T>C"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23540480T>C"	""	"benign"	""
"0000922888"	"0"	"10"	"18"	"21114440"	"21114440"	"subst"	"0.00261548"	"00006"	"NPC1_000019"	"g.21114440C>A"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23534476C>A"	""	"benign"	""
"0000922889"	"0"	"10"	"18"	"21128041"	"21128041"	"subst"	"0"	"00006"	"NPC1_000374"	"g.21128041C>T"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23548077C>T"	""	"benign"	""
"0000922890"	"0"	"10"	"18"	"21127987"	"21127987"	"subst"	"0"	"00006"	"NPC1_000372"	"g.21127987G>C"	""	"{PMID:Fernandez-Valero 2005:16098014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23548023G>C"	""	"benign"	""
"0000926702"	"0"	"50"	"18"	"21116835"	"21116835"	"subst"	"4.06491E-6"	"02327"	"NPC1_000363"	"g.21116835T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000926703"	"0"	"90"	"18"	"21148904"	"21148904"	"subst"	"4.06207E-6"	"02327"	"NPC1_000209"	"g.21148904G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000951092"	"0"	"50"	"18"	"21111649"	"21111649"	"subst"	"0.000167206"	"02325"	"NPC1_000383"	"g.21111649T>G"	""	""	""	"NPC1(NM_000271.5):c.*517A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000951093"	"0"	"30"	"18"	"21121026"	"21121026"	"subst"	"0.00371655"	"02326"	"NPC1_000117"	"g.21121026G>A"	""	""	""	"NPC1(NM_000271.5):c.2514+6C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000951094"	"0"	"10"	"18"	"21136233"	"21136233"	"subst"	"0.00314412"	"02326"	"NPC1_000145"	"g.21136233G>A"	""	""	""	"NPC1(NM_000271.5):c.1300C>T (p.P434S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000953831"	"0"	"70"	"18"	"21119429"	"21119429"	"subst"	"4.10671E-6"	"03779"	"NPC1_000270"	"g.21119429C>T"	""	""	""	""	""	"CLASSIFICATION record"	""	"rs786204714"	"0"	""	""	""	""	"likely pathogenic"	""
"0000953833"	"0"	"70"	"18"	"21119357"	"21119357"	"subst"	"2.03269E-5"	"03779"	"NPC1_000263"	"g.21119357C>T"	""	""	""	""	""	"CLASSIFICATION record"	""	"rs120074132"	"0"	""	""	""	""	"likely pathogenic"	""
"0000969330"	"0"	"90"	"18"	"21116700"	"21116700"	"subst"	"0.000211171"	"02329"	"NPC1_000030"	"g.21116700A>G"	""	""	""	"NPC1(NM_000271.4):c.3182T>C (p.I1061T), NPC1(NM_000271.5):c.3182T>C (p.I1061T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000982974"	"0"	"30"	"18"	"21114440"	"21114440"	"subst"	"0.00261548"	"01804"	"NPC1_000019"	"g.21114440C>A"	""	""	""	"NPC1(NM_000271.4):c.3561G>T (p.A1187=), NPC1(NM_000271.5):c.3561G>T (p.A1187=, p.(Ala1187=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000982975"	"0"	"50"	"18"	"21116752"	"21116752"	"subst"	"4.87318E-5"	"01804"	"NPC1_000384"	"g.21116752C>T"	""	""	""	"NPC1(NM_000271.5):c.3130G>A (p.(Val1044Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000982976"	"0"	"50"	"18"	"21124312"	"21124312"	"subst"	"2.84453E-5"	"01804"	"NPC1_000385"	"g.21124312T>A"	""	""	""	"NPC1(NM_000271.5):c.2126A>T (p.(Tyr709Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000982977"	"0"	"70"	"18"	"21124366"	"21124366"	"subst"	"0"	"01804"	"NPC1_000048"	"g.21124366G>A"	""	""	""	"NPC1(NM_000271.5):c.2072C>T (p.(Pro691Leu), p.P691L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000982978"	"0"	"30"	"18"	"21124914"	"21124915"	"ins"	"0.000100136"	"01804"	"NPC1_000386"	"g.21124914_21124915insA"	""	""	""	"NPC1(NM_000271.5):c.1947+9_1947+10insT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000982979"	"0"	"50"	"18"	"21136368"	"21136368"	"subst"	"4.06478E-6"	"01804"	"NPC1_000387"	"g.21136368G>A"	""	""	""	"NPC1(NM_000271.5):c.1165C>T (p.(Arg389Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000982980"	"0"	"90"	"18"	"21141338"	"21141341"	"del"	"0"	"02325"	"NPC1_000388"	"g.21141338_21141341del"	""	""	""	"NPC1(NM_000271.5):c.616_619delACTC (p.T206Lfs*14)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000982981"	"0"	"90"	"18"	"21141449"	"21141449"	"subst"	"0"	"01804"	"NPC1_000389"	"g.21141449T>A"	""	""	""	"NPC1(NM_000271.5):c.506A>T (p.(Asn169Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000982982"	"0"	"30"	"18"	"21141495"	"21141495"	"subst"	"4.06204E-6"	"01804"	"NPC1_000390"	"g.21141495G>C"	""	""	""	"NPC1(NM_000271.5):c.464-4C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000982983"	"0"	"50"	"18"	"21166295"	"21166295"	"subst"	"0"	"01804"	"NPC1_000391"	"g.21166295C>A"	""	""	""	"NPC1(NM_000271.5):c.13G>T (p.(Gly5Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001003969"	"0"	"30"	"18"	"21107861"	"21107861"	"subst"	"0.000322218"	"01804"	"NPC1_000392"	"g.21107861C>T"	""	""	""	"C18ORF8(NM_013326.4):c.1292C>T (p.(Ala431Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003970"	"0"	"30"	"18"	"21118574"	"21118574"	"subst"	"8.12163E-6"	"01804"	"NPC1_000393"	"g.21118574C>A"	""	""	""	"NPC1(NM_000271.4):c.2973G>T (p.(Gln991His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003971"	"0"	"30"	"18"	"21134929"	"21134929"	"subst"	"8.1277E-6"	"01804"	"NPC1_000394"	"g.21134929G>A"	""	""	""	"NPC1(NM_000271.4):c.1346C>T (p.(Ala449Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003972"	"0"	"50"	"18"	"21141461"	"21141461"	"subst"	"0"	"02329"	"NPC1_000105"	"g.21141461G>T"	""	""	""	"NPC1(NM_000271.5):c.494C>A (p.A165D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001012447"	"1"	"30"	"18"	"21140411"	"21140411"	"subst"	"0.00333312"	"00006"	"NPC1_000001"	"g.21140411T>C"	""	"{PMID:Fernandez-Marmiesse 2014:24767253}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23560447T>C"	""	"likely benign"	""
"0001012450"	"1"	"50"	"18"	"21121386"	"21121386"	"subst"	"0.000190905"	"00006"	"NPC1_000395"	"g.21121386C>T"	""	"{PMID:Fernandez-Marmiesse 2014:24767253}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23541422C>T"	""	"VUS"	""
"0001012452"	"1"	"30"	"18"	"21114466"	"21114466"	"subst"	"0.00106052"	"00006"	"NPC1_000110"	"g.21114466T>C"	""	"{PMID:Fernandez-Marmiesse 2014:24767253}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.23534502T>C"	""	"likely benign"	""
"0001018803"	"0"	"70"	"18"	"21136429"	"21136434"	"del"	"0"	"03779"	"NPC1_000396"	"g.21136429_21136434del"	""	""	""	""	""	"CLASSIFICATION record"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0001027090"	"0"	"30"	"18"	"21123553"	"21123554"	"del"	"0"	"01943"	"NPC1_000042"	"g.21123553_21123554del"	""	""	""	"NPC1(NM_000271.4):c.2131-5_2131-4del (p.?), NPC1(NM_000271.4):c.2131-5_2131-4delTT, NPC1(NM_000271.5):c.2131-5_2131-4delTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001027091"	"0"	"30"	"18"	"21123554"	"21123554"	"del"	"0"	"01943"	"NPC1_000041"	"g.21123554del"	""	""	""	"NPC1(NM_000271.4):c.2131-4del (p.?), NPC1(NM_000271.4):c.2131-4delT, NPC1(NM_000271.5):c.2131-4delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001042366"	"0"	"90"	"18"	"21113329"	"21113332"	"del"	"0"	"01804"	"NPC1_000397"	"g.21113329_21113332del"	""	""	""	"NPC1(NM_000271.5):c.3742_3745del (p.(Leu1248ValfsTer3))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001042367"	"0"	"50"	"18"	"21114453"	"21114453"	"subst"	"0.000101634"	"01804"	"NPC1_000398"	"g.21114453C>T"	""	""	""	"NPC1(NM_000271.5):c.3548G>A (p.(Arg1183His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001042368"	"0"	"90"	"18"	"21115459"	"21115459"	"subst"	"0"	"01804"	"NPC1_000176"	"g.21115459C>T"	""	""	""	"NPC1(NM_000271.4):c.3451G>A (p.A1151T), NPC1(NM_000271.5):c.3451G>A (p.(Ala1151Thr), p.A1151T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001042369"	"0"	"50"	"18"	"21115518"	"21115518"	"subst"	"0"	"01804"	"NPC1_000399"	"g.21115518A>G"	""	""	""	"NPC1(NM_000271.5):c.3392T>C (p.(Ile1131Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001042370"	"0"	"70"	"18"	"21116770"	"21116770"	"subst"	"0"	"01804"	"NPC1_000400"	"g.21116770A>C"	""	""	""	"NPC1(NM_000271.5):c.3112T>G (p.(Phe1038Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001042371"	"0"	"90"	"18"	"21118536"	"21118536"	"subst"	"0.000714698"	"01804"	"NPC1_000031"	"g.21118536G>A"	""	""	""	"NPC1(NM_000271.5):c.3011C>T (p.(Ser1004Leu), p.S1004L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001042372"	"0"	"90"	"18"	"21136322"	"21136322"	"subst"	"3.25145E-5"	"01804"	"NPC1_000079"	"g.21136322C>T"	""	""	""	"NPC1(NM_000271.4):c.1211G>A (p.R404Q), NPC1(NM_000271.5):c.1211G>A (p.(Arg404Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes NPC1
## Count = 814
"{{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}}"
"0000000678"	"00000132"	"50"	"665"	"0"	"665"	"0"	"c.665A>G"	"r.(?)"	"p.(Asn222Ser)"	"6"
"0000000679"	"00000132"	"50"	"665"	"0"	"665"	"0"	"c.665A>G"	"r.(?)"	"p.(Asn222Ser)"	"6"
"0000000680"	"00000132"	"50"	"2861"	"0"	"2861"	"0"	"c.2861C>T"	"r.(?)"	"p.(Ser954Leu)"	"19"
"0000116904"	"00000132"	"90"	"57"	"4"	"57"	"4"	"c.57+4A>G"	"r.spl?"	"p.?"	"1i"
"0000116905"	"00000132"	"90"	"352"	"0"	"353"	"0"	"c.352_353del"	"r.(?)"	"p.(Gln119Valfs*8)"	"4"
"0000116906"	"00000132"	"90"	"1156"	"0"	"1156"	"0"	"c.1156A>G"	"r.(?)"	"p.(Ser386Gly)"	"8"
"0000116907"	"00000132"	"90"	"1892"	"0"	"1892"	"0"	"c.1892T>G"	"r.(?)"	"p.(Met631Arg)"	"12"
"0000222886"	"00000132"	"90"	"2932"	"0"	"2932"	"0"	"c.2932C>T"	"r.2932c>u"	"p.Arg978Cys"	"20"
"0000222887"	"00000132"	"10"	"1926"	"0"	"1926"	"0"	"c.1926G>A"	"r.1926g>a"	"p.Met642Ile"	"12"
"0000222888"	"00000132"	"10"	"2572"	"0"	"2572"	"0"	"c.2572A>G"	"r.2572a>g"	"p.Ile858Val"	"17"
"0000222889"	"00000132"	"10"	"2793"	"0"	"2793"	"0"	"c.2793C>T"	"r.2793c>u"	"p.Asn931="	"18"
"0000222890"	"00000132"	"10"	"3797"	"0"	"3797"	"0"	"c.3797G>A"	"r.3797g>a"	"p.Arg1266Gln"	"25"
"0000222891"	"00000132"	"90"	"882"	"-28"	"882"	"-28"	"c.882-28A>G"	"r.882_955del"	"p.Lys295Argfs*"	"6i"
"0000242775"	"00000132"	"90"	"3066"	"0"	"3073"	"0"	"c.3066_3073delinsT"	"r.(?)"	"p.(Val1023Serfs*15)"	"21"
"0000247491"	"00000132"	"10"	"387"	"0"	"387"	"0"	"c.387T>C"	"r.(?)"	"p.(Tyr129=)"	""
"0000247503"	"00000132"	"10"	"3477"	"19"	"3477"	"19"	"c.3477+19T>C"	"r.(=)"	"p.(=)"	""
"0000248173"	"00000132"	"30"	"3477"	"19"	"3477"	"19"	"c.3477+19T>C"	"r.(=)"	"p.(=)"	""
"0000248174"	"00000132"	"30"	"2795"	"19"	"2795"	"19"	"c.2795+19T>C"	"r.(=)"	"p.(=)"	""
"0000248334"	"00000132"	"10"	"2131"	"-4"	"2131"	"-4"	"c.2131-4del"	"r.spl?"	"p.?"	""
"0000249639"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000249888"	"00000132"	"10"	"387"	"0"	"387"	"0"	"c.387T>C"	"r.(?)"	"p.(Tyr129=)"	""
"0000250014"	"00000132"	"30"	"3477"	"19"	"3477"	"19"	"c.3477+19T>C"	"r.(=)"	"p.(=)"	""
"0000250015"	"00000132"	"30"	"2795"	"19"	"2795"	"19"	"c.2795+19T>C"	"r.(=)"	"p.(=)"	""
"0000250069"	"00000132"	"10"	"2131"	"-4"	"2131"	"-4"	"c.2131-4del"	"r.spl?"	"p.?"	""
"0000250484"	"00000132"	"30"	"1947"	"17"	"1947"	"17"	"c.1947+17T>G"	"r.(=)"	"p.(=)"	""
"0000250521"	"00000132"	"90"	"306"	"0"	"306"	"0"	"c.306T>G"	"r.(?)"	"p.(Tyr102Ter)"	""
"0000250874"	"00000132"	"10"	"3477"	"19"	"3477"	"19"	"c.3477+19T>C"	"r.(=)"	"p.(=)"	""
"0000250875"	"00000132"	"10"	"2795"	"19"	"2795"	"19"	"c.2795+19T>C"	"r.(=)"	"p.(=)"	""
"0000250987"	"00000132"	"10"	"2604"	"30"	"2604"	"30"	"c.2604+30del"	"r.(=)"	"p.(=)"	""
"0000253112"	"00000132"	"10"	"387"	"0"	"387"	"0"	"c.387T>C"	"r.(?)"	"p.(Tyr129=)"	""
"0000293166"	"00000132"	"30"	"1899"	"0"	"1899"	"0"	"c.1899A>G"	"r.(?)"	"p.(Leu633=)"	""
"0000293167"	"00000132"	"10"	"1926"	"0"	"1926"	"0"	"c.1926G>C"	"r.(?)"	"p.(Met642Ile)"	""
"0000293168"	"00000132"	"10"	"1947"	"10"	"1947"	"10"	"c.1947+10G>C"	"r.(=)"	"p.(=)"	""
"0000293174"	"00000132"	"10"	"1947"	"16"	"1947"	"16"	"c.1947+16del"	"r.(=)"	"p.(=)"	""
"0000293175"	"00000132"	"10"	"2131"	"-4"	"2131"	"-4"	"c.2131-4del"	"r.spl?"	"p.?"	""
"0000293176"	"00000132"	"10"	"2572"	"0"	"2572"	"0"	"c.2572A>G"	"r.(?)"	"p.(Ile858Val)"	""
"0000293177"	"00000132"	"10"	"3246"	"-20"	"3246"	"-20"	"c.3246-20G>A"	"r.(=)"	"p.(=)"	""
"0000293178"	"00000132"	"10"	"3561"	"0"	"3561"	"0"	"c.3561G>T"	"r.(?)"	"p.(Ala1187=)"	""
"0000293179"	"00000132"	"10"	"3797"	"0"	"3797"	"0"	"c.3797G>A"	"r.(?)"	"p.(Arg1266Gln)"	""
"0000293180"	"00000132"	"10"	"644"	"0"	"644"	"0"	"c.644A>G"	"r.(?)"	"p.(His215Arg)"	""
"0000293181"	"00000132"	"10"	"709"	"0"	"709"	"0"	"c.709C>T"	"r.(?)"	"p.(Pro237Ser)"	""
"0000296558"	"00000132"	"30"	"1302"	"0"	"1302"	"0"	"c.1302G>A"	"r.(?)"	"p.(Pro434=)"	""
"0000296559"	"00000132"	"10"	"1532"	"0"	"1532"	"0"	"c.1532C>T"	"r.(?)"	"p.(Thr511Met)"	""
"0000296560"	"00000132"	"30"	"1553"	"18"	"1553"	"18"	"c.1553+18A>G"	"r.(=)"	"p.(=)"	""
"0000296561"	"00000132"	"90"	"1628"	"0"	"1628"	"0"	"c.1628C>T"	"r.(?)"	"p.(Pro543Leu)"	""
"0000296563"	"00000132"	"10"	"1926"	"0"	"1926"	"0"	"c.1926G>C"	"r.(?)"	"p.(Met642Ile)"	""
"0000296564"	"00000132"	"30"	"1947"	"10"	"1947"	"10"	"c.1947+10G>C"	"r.(=)"	"p.(=)"	""
"0000296565"	"00000132"	"30"	"1947"	"14"	"1947"	"15"	"c.1947+14_1947+15insC"	"r.(=)"	"p.(=)"	""
"0000296566"	"00000132"	"30"	"1947"	"16"	"1947"	"17"	"c.1947+16_1947+17insGGAGG"	"r.(=)"	"p.(=)"	""
"0000296567"	"00000132"	"10"	"1947"	"16"	"1947"	"16"	"c.1947+16dup"	"r.(=)"	"p.(=)"	""
"0000296570"	"00000132"	"10"	"1947"	"14"	"1947"	"16"	"c.1947+14_1947+16dup"	"r.(=)"	"p.(=)"	""
"0000296571"	"00000132"	"90"	"2072"	"0"	"2072"	"0"	"c.2072C>T"	"r.(?)"	"p.(Pro691Leu)"	""
"0000296572"	"00000132"	"30"	"2073"	"0"	"2073"	"0"	"c.2073G>A"	"r.(?)"	"p.(Pro691=)"	""
"0000296573"	"00000132"	"10"	"2572"	"0"	"2572"	"0"	"c.2572A>G"	"r.(?)"	"p.(Ile858Val)"	""
"0000296574"	"00000132"	"30"	"2604"	"14"	"2604"	"16"	"c.2604+14_2604+16del"	"r.(=)"	"p.(=)"	""
"0000296575"	"00000132"	"90"	"2972"	"0"	"2973"	"0"	"c.2972_2973del"	"r.(?)"	"p.(Gln991ArgfsTer15)"	""
"0000296576"	"00000132"	"90"	"3011"	"0"	"3011"	"0"	"c.3011C>T"	"r.(?)"	"p.(Ser1004Leu)"	""
"0000296577"	"00000132"	"30"	"3198"	"0"	"3198"	"0"	"c.3198C>T"	"r.(?)"	"p.(Thr1066=)"	""
"0000296578"	"00000132"	"30"	"3331"	"0"	"3331"	"0"	"c.3331C>T"	"r.(?)"	"p.(Leu1111=)"	""
"0000296579"	"00000132"	"30"	"3441"	"0"	"3441"	"0"	"c.3441C>T"	"r.(?)"	"p.(Ile1147=)"	""
"0000296580"	"00000132"	"10"	"3450"	"0"	"3450"	"0"	"c.3450C>T"	"r.(?)"	"p.(Asn1150=)"	""
"0000296581"	"00000132"	"30"	"3528"	"0"	"3528"	"0"	"c.3528G>A"	"r.(?)"	"p.(Thr1176=)"	""
"0000296582"	"00000132"	"10"	"3598"	"0"	"3598"	"0"	"c.3598A>G"	"r.(?)"	"p.(Ser1200Gly)"	""
"0000296584"	"00000132"	"30"	"463"	"19"	"463"	"19"	"c.463+19A>G"	"r.(=)"	"p.(=)"	""
"0000296585"	"00000132"	"10"	"644"	"0"	"644"	"0"	"c.644A>G"	"r.(?)"	"p.(His215Arg)"	""
"0000296586"	"00000132"	"50"	"668"	"0"	"668"	"0"	"c.668C>T"	"r.(?)"	"p.(Ala223Val)"	""
"0000296587"	"00000132"	"30"	"66"	"0"	"66"	"0"	"c.66A>G"	"r.(?)"	"p.(Ser22=)"	""
"0000298708"	"00000132"	"30"	"1011"	"0"	"1011"	"0"	"c.1011G>T"	"r.(?)"	"p.(Arg337=)"	""
"0000298709"	"00000132"	"30"	"1503"	"0"	"1503"	"0"	"c.1503C>T"	"r.(?)"	"p.(Asp501=)"	""
"0000298710"	"00000132"	"30"	"1532"	"0"	"1532"	"0"	"c.1532C>T"	"r.(?)"	"p.(Thr511Met)"	""
"0000298711"	"00000132"	"50"	"180"	"0"	"180"	"0"	"c.180G>T"	"r.(?)"	"p.(Gln60His)"	""
"0000298712"	"00000132"	"10"	"1926"	"0"	"1926"	"0"	"c.1926G>C"	"r.(?)"	"p.(Met642Ile)"	""
"0000298713"	"00000132"	"10"	"1947"	"10"	"1947"	"10"	"c.1947+10G>C"	"r.(=)"	"p.(=)"	""
"0000298719"	"00000132"	"30"	"1947"	"19"	"1947"	"20"	"c.1947+19_1947+20insGGGG"	"r.(=)"	"p.(=)"	""
"0000298721"	"00000132"	"10"	"1947"	"16"	"1947"	"16"	"c.1947+16del"	"r.(=)"	"p.(=)"	""
"0000298725"	"00000132"	"30"	"2073"	"0"	"2073"	"0"	"c.2073G>A"	"r.(?)"	"p.(Pro691=)"	""
"0000298726"	"00000132"	"10"	"2131"	"-5"	"2131"	"-4"	"c.2131-5_2131-4del"	"r.spl?"	"p.?"	""
"0000298728"	"00000132"	"30"	"2131"	"-6"	"2131"	"-4"	"c.2131-6_2131-4del"	"r.spl?"	"p.?"	""
"0000298730"	"00000132"	"30"	"2268"	"0"	"2268"	"0"	"c.2268C>T"	"r.(?)"	"p.(Ala756=)"	""
"0000298731"	"00000132"	"10"	"2572"	"0"	"2572"	"0"	"c.2572A>G"	"r.(?)"	"p.(Ile858Val)"	""
"0000298732"	"00000132"	"30"	"2604"	"14"	"2604"	"16"	"c.2604+14_2604+16del"	"r.(=)"	"p.(=)"	""
"0000298733"	"00000132"	"30"	"2604"	"14"	"2604"	"17"	"c.2604+14_2604+17del"	"r.(=)"	"p.(=)"	""
"0000298734"	"00000132"	"30"	"3198"	"0"	"3198"	"0"	"c.3198C>T"	"r.(?)"	"p.(Thr1066=)"	""
"0000298735"	"00000132"	"30"	"3217"	"0"	"3217"	"0"	"c.3217G>A"	"r.(?)"	"p.(Gly1073Ser)"	""
"0000298736"	"00000132"	"30"	"3450"	"0"	"3450"	"0"	"c.3450C>T"	"r.(?)"	"p.(Asn1150=)"	""
"0000298737"	"00000132"	"30"	"3477"	"4"	"3477"	"4"	"c.3477+4A>G"	"r.spl?"	"p.?"	""
"0000298738"	"00000132"	"30"	"3561"	"0"	"3561"	"0"	"c.3561G>T"	"r.(?)"	"p.(Ala1187=)"	""
"0000298739"	"00000132"	"10"	"3797"	"0"	"3797"	"0"	"c.3797G>A"	"r.(?)"	"p.(Arg1266Gln)"	""
"0000298740"	"00000132"	"30"	"463"	"19"	"463"	"19"	"c.463+19A>G"	"r.(=)"	"p.(=)"	""
"0000298741"	"00000132"	"30"	"540"	"0"	"540"	"0"	"c.540C>T"	"r.(?)"	"p.(Asp180=)"	""
"0000298742"	"00000132"	"50"	"631"	"0"	"631"	"0"	"c.631G>T"	"r.(?)"	"p.(Asp211Tyr)"	""
"0000298743"	"00000132"	"10"	"644"	"0"	"644"	"0"	"c.644A>G"	"r.(?)"	"p.(His215Arg)"	""
"0000298744"	"00000132"	"30"	"665"	"0"	"665"	"0"	"c.665A>G"	"r.(?)"	"p.(Asn222Ser)"	""
"0000298745"	"00000132"	"10"	"709"	"0"	"709"	"0"	"c.709C>T"	"r.(?)"	"p.(Pro237Ser)"	""
"0000298746"	"00000132"	"30"	"966"	"0"	"966"	"0"	"c.966C>T"	"r.(?)"	"p.(Ser322=)"	""
"0000300314"	"00000132"	"30"	"1503"	"0"	"1503"	"0"	"c.1503C>T"	"r.(?)"	"p.(Asp501=)"	""
"0000300315"	"00000132"	"30"	"181"	"-88"	"181"	"-88"	"c.181-88A>G"	"r.(=)"	"p.(=)"	""
"0000300316"	"00000132"	"70"	"1918"	"0"	"1918"	"0"	"c.1918G>A"	"r.(?)"	"p.(Gly640Arg)"	""
"0000300317"	"00000132"	"30"	"1947"	"16"	"1947"	"16"	"c.1947+16dup"	"r.(=)"	"p.(=)"	""
"0000300318"	"00000132"	"30"	"1947"	"15"	"1947"	"16"	"c.1947+15_1947+16dup"	"r.(=)"	"p.(=)"	""
"0000300321"	"00000132"	"10"	"2131"	"-5"	"2131"	"-4"	"c.2131-5_2131-4del"	"r.spl?"	"p.?"	""
"0000300322"	"00000132"	"10"	"2131"	"-4"	"2131"	"-4"	"c.2131-4del"	"r.spl?"	"p.?"	""
"0000300323"	"00000132"	"10"	"2131"	"-4"	"2131"	"-4"	"c.2131-4dup"	"r.spl?"	"p.?"	""
"0000300324"	"00000132"	"30"	"2605"	"-41"	"2605"	"-41"	"c.2605-41G>A"	"r.(=)"	"p.(=)"	""
"0000300325"	"00000132"	"70"	"275"	"0"	"275"	"0"	"c.275A>G"	"r.(?)"	"p.(Gln92Arg)"	""
"0000300326"	"00000132"	"30"	"288"	"-44"	"288"	"-44"	"c.288-44A>T"	"r.(=)"	"p.(=)"	""
"0000300327"	"00000132"	"10"	"2911"	"72"	"2911"	"72"	"c.2911+72C>T"	"r.(=)"	"p.(=)"	""
"0000304398"	"00000132"	"10"	"-22"	"0"	"-22"	"0"	"c.-22A>C"	"r.(?)"	"p.(=)"	""
"0000304399"	"00000132"	"10"	"1071"	"0"	"1071"	"0"	"c.1071G>A"	"r.(?)"	"p.(Ser357=)"	""
"0000304400"	"00000132"	"70"	"1211"	"0"	"1211"	"0"	"c.1211G>A"	"r.(?)"	"p.(Arg404Gln)"	""
"0000304401"	"00000132"	"50"	"1552"	"0"	"1552"	"0"	"c.1552C>T"	"r.(?)"	"p.(Arg518Trp)"	""
"0000304404"	"00000132"	"30"	"1947"	"8"	"1947"	"8"	"c.1947+8G>C"	"r.(=)"	"p.(=)"	""
"0000304405"	"00000132"	"30"	"2073"	"0"	"2073"	"0"	"c.2073G>A"	"r.(?)"	"p.(Pro691=)"	""
"0000304406"	"00000132"	"10"	"2572"	"0"	"2572"	"0"	"c.2572A>G"	"r.(?)"	"p.(Ile858Val)"	""
"0000304407"	"00000132"	"10"	"2731"	"0"	"2731"	"0"	"c.2731G>A"	"r.(?)"	"p.(Gly911Ser)"	""
"0000304408"	"00000132"	"30"	"3198"	"0"	"3198"	"0"	"c.3198C>T"	"r.(?)"	"p.(Thr1066=)"	""
"0000304409"	"00000132"	"90"	"3229"	"0"	"3229"	"0"	"c.3229C>T"	"r.(?)"	"p.(Arg1077Ter)"	""
"0000304410"	"00000132"	"10"	"3450"	"0"	"3450"	"0"	"c.3450C>T"	"r.(?)"	"p.(Asn1150=)"	""
"0000304411"	"00000132"	"90"	"352"	"0"	"353"	"0"	"c.352_353del"	"r.(?)"	"p.(Gln119ValfsTer8)"	""
"0000304412"	"00000132"	"30"	"3561"	"0"	"3561"	"0"	"c.3561G>T"	"r.(?)"	"p.(Ala1187=)"	""
"0000304413"	"00000132"	"90"	"3591"	"1"	"3591"	"1"	"c.3591+1G>T"	"r.spl?"	"p.?"	""
"0000304414"	"00000132"	"10"	"3598"	"0"	"3598"	"0"	"c.3598A>G"	"r.(?)"	"p.(Ser1200Gly)"	""
"0000304415"	"00000132"	"30"	"3717"	"0"	"3717"	"0"	"c.3717C>T"	"r.(?)"	"p.(His1239=)"	""
"0000304417"	"00000132"	"10"	"3797"	"0"	"3797"	"0"	"c.3797G>A"	"r.(?)"	"p.(Arg1266Gln)"	""
"0000304418"	"00000132"	"50"	"445"	"0"	"445"	"0"	"c.445G>A"	"r.(?)"	"p.(Gly149Arg)"	""
"0000304419"	"00000132"	"10"	"540"	"0"	"540"	"0"	"c.540C>T"	"r.(?)"	"p.(Asp180=)"	""
"0000304420"	"00000132"	"10"	"644"	"0"	"644"	"0"	"c.644A>G"	"r.(?)"	"p.(His215Arg)"	""
"0000304421"	"00000132"	"30"	"665"	"0"	"665"	"0"	"c.665A>G"	"r.(?)"	"p.(Asn222Ser)"	""
"0000325859"	"00000132"	"50"	"541"	"0"	"541"	"0"	"c.541G>A"	"r.(?)"	"p.(Ala181Thr)"	""
"0000340710"	"00000132"	"10"	"2793"	"0"	"2793"	"0"	"c.2793C>T"	"r.(?)"	"p.(Asn931=)"	""
"0000344213"	"00000132"	"70"	"2830"	"0"	"2830"	"0"	"c.2830G>A"	"r.(?)"	"p.(Asp944Asn)"	""
"0000345739"	"00000132"	"50"	"445"	"0"	"445"	"0"	"c.445G>A"	"r.(?)"	"p.(Gly149Arg)"	""
"0000346409"	"00000132"	"10"	"644"	"0"	"644"	"0"	"c.644A>G"	"r.(?)"	"p.(His215Arg)"	""
"0000346816"	"00000132"	"10"	"2572"	"0"	"2572"	"0"	"c.2572A>G"	"r.(?)"	"p.(Ile858Val)"	""
"0000347877"	"00000132"	"10"	"1926"	"0"	"1926"	"0"	"c.1926G>C"	"r.(?)"	"p.(Met642Ile)"	""
"0000348111"	"00000132"	"90"	"3019"	"0"	"3019"	"0"	"c.3019C>G"	"r.(?)"	"p.(Pro1007Ala)"	""
"0000348305"	"00000132"	"10"	"709"	"0"	"709"	"0"	"c.709C>T"	"r.(?)"	"p.(Pro237Ser)"	""
"0000369839"	"00000132"	"90"	"3722"	"0"	"3722"	"0"	"c.3722T>C"	"r.(?)"	"p.(Leu1241Ser)"	""
"0000369914"	"00000132"	"90"	"160"	"0"	"160"	"0"	"c.160dup"	"r.(?)"	"p.(Asp54Glyfs*4)"	""
"0000369916"	"00000132"	"90"	"160"	"0"	"160"	"0"	"c.160dup"	"r.(?)"	"p.(Asp54Glyfs*4)"	""
"0000406021"	"00000132"	"50"	"494"	"0"	"494"	"0"	"c.494C>A"	"r.(?)"	"p.(Ala165Asp)"	""
"0000439864"	"00000132"	"50"	"1926"	"0"	"1926"	"0"	"c.1926G>C"	"r.(?)"	"p.(Met642Ile)"	""
"0000564105"	"00000132"	"30"	"3755"	"-6"	"3755"	"-5"	"c.3755-6_3755-5dup"	"r.spl?"	"p.?"	""
"0000564106"	"00000132"	"30"	"3751"	"0"	"3751"	"0"	"c.3751A>G"	"r.(?)"	"p.(Ile1251Val)"	""
"0000564107"	"00000132"	"30"	"3724"	"0"	"3724"	"0"	"c.3724A>G"	"r.(?)"	"p.(Ile1242Val)"	""
"0000564108"	"00000132"	"90"	"3614"	"0"	"3614"	"0"	"c.3614C>A"	"r.(?)"	"p.(Thr1205Lys)"	""
"0000564109"	"00000132"	"10"	"3598"	"0"	"3598"	"0"	"c.3598A>G"	"r.(?)"	"p.(Ser1200Gly)"	""
"0000564110"	"00000132"	"30"	"3535"	"0"	"3535"	"0"	"c.3535A>G"	"r.(?)"	"p.(Met1179Val)"	""
"0000564111"	"00000132"	"50"	"3477"	"4"	"3477"	"4"	"c.3477+4A>G"	"r.spl?"	"p.?"	""
"0000564112"	"00000132"	"30"	"3450"	"0"	"3450"	"0"	"c.3450C>T"	"r.(?)"	"p.(Asn1150=)"	""
"0000564114"	"00000132"	"50"	"3343"	"0"	"3343"	"0"	"c.3343G>T"	"r.(?)"	"p.(Val1115Phe)"	""
"0000564115"	"00000132"	"30"	"3331"	"0"	"3331"	"0"	"c.3331C>T"	"r.(?)"	"p.(Leu1111=)"	""
"0000564116"	"00000132"	"30"	"3217"	"0"	"3217"	"0"	"c.3217G>A"	"r.(?)"	"p.(Gly1073Ser)"	""
"0000564117"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000564118"	"00000132"	"70"	"3019"	"0"	"3019"	"0"	"c.3019C>G"	"r.(?)"	"p.(Pro1007Ala)"	""
"0000564119"	"00000132"	"90"	"3019"	"0"	"3019"	"0"	"c.3019C>G"	"r.(?)"	"p.(Pro1007Ala)"	""
"0000564120"	"00000132"	"70"	"3019"	"0"	"3019"	"0"	"c.3019C>G"	"r.(?)"	"p.(Pro1007Ala)"	""
"0000564121"	"00000132"	"30"	"3012"	"0"	"3012"	"0"	"c.3012G>A"	"r.(?)"	"p.(Ser1004=)"	""
"0000564122"	"00000132"	"30"	"3012"	"0"	"3012"	"0"	"c.3012G>A"	"r.(?)"	"p.(Ser1004=)"	""
"0000564123"	"00000132"	"50"	"3012"	"0"	"3012"	"0"	"c.3012G>A"	"r.(?)"	"p.(Ser1004=)"	""
"0000564124"	"00000132"	"10"	"2911"	"28"	"2911"	"28"	"c.2911+28T>C"	"r.(=)"	"p.(=)"	""
"0000564125"	"00000132"	"90"	"2861"	"0"	"2861"	"0"	"c.2861C>T"	"r.(?)"	"p.(Ser954Leu)"	""
"0000564126"	"00000132"	"10"	"2795"	"19"	"2795"	"19"	"c.2795+19T>C"	"r.(=)"	"p.(=)"	""
"0000564127"	"00000132"	"10"	"2793"	"0"	"2793"	"0"	"c.2793C>T"	"r.(?)"	"p.(Asn931=)"	""
"0000564128"	"00000132"	"10"	"2793"	"0"	"2793"	"0"	"c.2793C>T"	"r.(?)"	"p.(Asn931=)"	""
"0000564129"	"00000132"	"10"	"2793"	"0"	"2793"	"0"	"c.2793C>T"	"r.(?)"	"p.(Asn931=)"	""
"0000564130"	"00000132"	"10"	"2793"	"0"	"2793"	"0"	"c.2793C>T"	"r.(?)"	"p.(Asn931=)"	""
"0000564131"	"00000132"	"10"	"2661"	"0"	"2661"	"0"	"c.2661G>A"	"r.(?)"	"p.(Pro887=)"	""
"0000564132"	"00000132"	"90"	"2621"	"0"	"2621"	"0"	"c.2621A>T"	"r.(?)"	"p.(Asp874Val)"	""
"0000564133"	"00000132"	"10"	"2514"	"6"	"2514"	"6"	"c.2514+6C>T"	"r.(=)"	"p.(=)"	""
"0000564134"	"00000132"	"30"	"2514"	"6"	"2514"	"6"	"c.2514+6C>T"	"r.(=)"	"p.(=)"	""
"0000564135"	"00000132"	"50"	"2501"	"0"	"2501"	"0"	"c.2501T>C"	"r.(?)"	"p.(Met834Thr)"	""
"0000564136"	"00000132"	"90"	"2474"	"0"	"2474"	"0"	"c.2474A>G"	"r.(?)"	"p.(Tyr825Cys)"	""
"0000564137"	"00000132"	"70"	"2474"	"0"	"2474"	"0"	"c.2474A>G"	"r.(?)"	"p.(Tyr825Cys)"	""
"0000564138"	"00000132"	"90"	"2474"	"0"	"2474"	"0"	"c.2474A>G"	"r.(?)"	"p.(Tyr825Cys)"	""
"0000564139"	"00000132"	"50"	"2428"	"0"	"2428"	"0"	"c.2428G>A"	"r.(?)"	"p.(Val810Ile)"	""
"0000564140"	"00000132"	"30"	"2373"	"11"	"2373"	"11"	"c.2373+11G>A"	"r.(=)"	"p.(=)"	""
"0000564141"	"00000132"	"30"	"2131"	"-5"	"2131"	"-4"	"c.2131-5_2131-4del"	"r.spl?"	"p.?"	""
"0000564142"	"00000132"	"10"	"2131"	"-4"	"2131"	"-4"	"c.2131-4del"	"r.spl?"	"p.?"	""
"0000564143"	"00000132"	"30"	"2131"	"-4"	"2131"	"-4"	"c.2131-4dup"	"r.spl?"	"p.?"	""
"0000564144"	"00000132"	"30"	"2131"	"-4"	"2131"	"-4"	"c.2131-4dup"	"r.spl?"	"p.?"	""
"0000564145"	"00000132"	"50"	"2096"	"0"	"2096"	"0"	"c.2096T>C"	"r.(?)"	"p.(Val699Ala)"	""
"0000564146"	"00000132"	"30"	"1947"	"19"	"1947"	"20"	"c.1947+19_1947+20insGGGGG"	"r.(=)"	"p.(=)"	""
"0000564147"	"00000132"	"30"	"1947"	"17"	"1947"	"17"	"c.1947+17T>G"	"r.(=)"	"p.(=)"	""
"0000564148"	"00000132"	"30"	"1947"	"15"	"1947"	"16"	"c.1947+15_1947+16insTG"	"r.(=)"	"p.(=)"	""
"0000564149"	"00000132"	"10"	"1947"	"14"	"1947"	"15"	"c.1947+14_1947+15insC"	"r.(=)"	"p.(=)"	""
"0000564150"	"00000132"	"30"	"1947"	"15"	"1947"	"16"	"c.1947+15_1947+16insCG"	"r.(=)"	"p.(=)"	""
"0000564151"	"00000132"	"10"	"1947"	"14"	"1947"	"14"	"c.1947+14G>T"	"r.(=)"	"p.(=)"	""
"0000564152"	"00000132"	"10"	"1947"	"14"	"1947"	"14"	"c.1947+14G>T"	"r.(=)"	"p.(=)"	""
"0000564153"	"00000132"	"10"	"1947"	"14"	"1947"	"14"	"c.1947+14G>T"	"r.(=)"	"p.(=)"	""
"0000564154"	"00000132"	"30"	"1947"	"14"	"1947"	"15"	"c.1947+14_1947+15insTGG"	"r.(=)"	"p.(=)"	""
"0000564155"	"00000132"	"30"	"1947"	"12"	"1947"	"16"	"c.1947+12_1947+16dup"	"r.(=)"	"p.(=)"	""
"0000564156"	"00000132"	"30"	"1947"	"12"	"1947"	"16"	"c.1947+12_1947+16dup"	"r.(=)"	"p.(=)"	""
"0000564157"	"00000132"	"30"	"1947"	"13"	"1947"	"16"	"c.1947+13_1947+16dup"	"r.(=)"	"p.(=)"	""
"0000564158"	"00000132"	"10"	"1947"	"13"	"1947"	"16"	"c.1947+13_1947+16dup"	"r.(=)"	"p.(=)"	""
"0000564159"	"00000132"	"10"	"1947"	"13"	"1947"	"16"	"c.1947+13_1947+16dup"	"r.(=)"	"p.(=)"	""
"0000564160"	"00000132"	"10"	"1947"	"13"	"1947"	"16"	"c.1947+13_1947+16dup"	"r.(=)"	"p.(=)"	""
"0000564162"	"00000132"	"10"	"1947"	"10"	"1947"	"10"	"c.1947+10G>A"	"r.(=)"	"p.(=)"	""
"0000564163"	"00000132"	"30"	"1947"	"14"	"1947"	"16"	"c.1947+14_1947+16dup"	"r.(=)"	"p.(=)"	""
"0000564164"	"00000132"	"10"	"1947"	"14"	"1947"	"16"	"c.1947+14_1947+16dup"	"r.(=)"	"p.(=)"	""
"0000564165"	"00000132"	"10"	"1947"	"14"	"1947"	"16"	"c.1947+14_1947+16dup"	"r.(=)"	"p.(=)"	""
"0000564167"	"00000132"	"30"	"1947"	"15"	"1947"	"16"	"c.1947+15_1947+16dup"	"r.(=)"	"p.(=)"	""
"0000564168"	"00000132"	"30"	"1947"	"15"	"1947"	"16"	"c.1947+15_1947+16dup"	"r.(=)"	"p.(=)"	""
"0000564169"	"00000132"	"10"	"1947"	"15"	"1947"	"16"	"c.1947+15_1947+16dup"	"r.(=)"	"p.(=)"	""
"0000564170"	"00000132"	"10"	"1947"	"11"	"1947"	"12"	"c.1947+11_1947+12insTGGG"	"r.(=)"	"p.(=)"	""
"0000564171"	"00000132"	"30"	"1947"	"16"	"1947"	"17"	"c.1947+16_1947+17insGGGGGGGGGG"	"r.(=)"	"p.(=)"	""
"0000564172"	"00000132"	"30"	"1947"	"7"	"1947"	"8"	"c.1947+7_1947+8insCGGGG"	"r.(=)"	"p.(=)"	""
"0000564173"	"00000132"	"30"	"1947"	"7"	"1947"	"8"	"c.1947+7_1947+8insCGGG"	"r.(=)"	"p.(=)"	""
"0000564174"	"00000132"	"30"	"1947"	"7"	"1947"	"8"	"c.1947+7_1947+8insCG"	"r.(=)"	"p.(=)"	""
"0000564175"	"00000132"	"30"	"1947"	"16"	"1947"	"16"	"c.1947+16dup"	"r.(=)"	"p.(=)"	""
"0000564176"	"00000132"	"10"	"1947"	"16"	"1947"	"16"	"c.1947+16dup"	"r.(=)"	"p.(=)"	""
"0000564177"	"00000132"	"10"	"1947"	"16"	"1947"	"16"	"c.1947+16dup"	"r.(=)"	"p.(=)"	""
"0000564178"	"00000132"	"30"	"1937"	"0"	"1937"	"0"	"c.1937G>A"	"r.(?)"	"p.(Arg646His)"	""
"0000564179"	"00000132"	"50"	"1858"	"0"	"1858"	"0"	"c.1858G>A"	"r.(?)"	"p.(Asp620Asn)"	""
"0000564180"	"00000132"	"50"	"1654"	"5"	"1654"	"5"	"c.1654+5G>A"	"r.spl?"	"p.?"	""
"0000564181"	"00000132"	"30"	"1581"	"0"	"1581"	"0"	"c.1581T>A"	"r.(?)"	"p.(Ser527Arg)"	""
"0000564182"	"00000132"	"70"	"1574"	"0"	"1574"	"0"	"c.1574A>T"	"r.(?)"	"p.(Asp525Val)"	""
"0000564183"	"00000132"	"70"	"1553"	"0"	"1553"	"0"	"c.1553G>A"	"r.(?)"	"p.(Arg518Gln)"	""
"0000564184"	"00000132"	"30"	"1480"	"0"	"1480"	"0"	"c.1480G>A"	"r.(?)"	"p.(Val494Met)"	""
"0000564185"	"00000132"	"10"	"1300"	"0"	"1300"	"0"	"c.1300C>T"	"r.(?)"	"p.(Pro434Ser)"	""
"0000564186"	"00000132"	"50"	"1274"	"0"	"1274"	"0"	"c.1274C>T"	"r.(?)"	"p.(Ser425Leu)"	""
"0000564187"	"00000132"	"30"	"1232"	"0"	"1232"	"0"	"c.1232G>A"	"r.(?)"	"p.(Arg411Gln)"	""
"0000564189"	"00000132"	"30"	"1117"	"0"	"1117"	"0"	"c.1117G>A"	"r.(?)"	"p.(Val373Ile)"	""
"0000564190"	"00000132"	"10"	"1011"	"0"	"1011"	"0"	"c.1011G>T"	"r.(?)"	"p.(Arg337=)"	""
"0000564191"	"00000132"	"10"	"966"	"0"	"966"	"0"	"c.966C>T"	"r.(?)"	"p.(Ser322=)"	""
"0000564192"	"00000132"	"50"	"959"	"0"	"959"	"0"	"c.959A>G"	"r.(?)"	"p.(Glu320Gly)"	""
"0000564193"	"00000132"	"30"	"956"	"-7"	"956"	"-7"	"c.956-7C>T"	"r.(=)"	"p.(=)"	""
"0000564194"	"00000132"	"50"	"805"	"0"	"805"	"0"	"c.805T>C"	"r.(?)"	"p.(Tyr269His)"	""
"0000564195"	"00000132"	"50"	"775"	"0"	"775"	"0"	"c.775C>A"	"r.(?)"	"p.(Pro259Thr)"	""
"0000564196"	"00000132"	"30"	"709"	"0"	"709"	"0"	"c.709C>T"	"r.(?)"	"p.(Pro237Ser)"	""
"0000564197"	"00000132"	"50"	"665"	"0"	"665"	"0"	"c.665A>G"	"r.(?)"	"p.(Asn222Ser)"	""
"0000564198"	"00000132"	"50"	"665"	"0"	"665"	"0"	"c.665A>G"	"r.(?)"	"p.(Asn222Ser)"	""
"0000564199"	"00000132"	"30"	"612"	"0"	"612"	"0"	"c.612C>T"	"r.(?)"	"p.(Thr204=)"	""
"0000564200"	"00000132"	"30"	"612"	"0"	"612"	"0"	"c.612C>T"	"r.(?)"	"p.(Thr204=)"	""
"0000564202"	"00000132"	"30"	"547"	"0"	"547"	"0"	"c.547G>A"	"r.(?)"	"p.(Ala183Thr)"	""
"0000564203"	"00000132"	"50"	"541"	"0"	"541"	"0"	"c.541G>A"	"r.(?)"	"p.(Ala181Thr)"	""
"0000564204"	"00000132"	"70"	"494"	"0"	"494"	"0"	"c.494C>A"	"r.(?)"	"p.(Ala165Asp)"	""
"0000564205"	"00000132"	"30"	"471"	"0"	"471"	"0"	"c.471C>T"	"r.(?)"	"p.(Tyr157=)"	""
"0000564206"	"00000132"	"30"	"388"	"0"	"388"	"0"	"c.388G>A"	"r.(?)"	"p.(Val130Ile)"	""
"0000564207"	"00000132"	"10"	"387"	"0"	"387"	"0"	"c.387T>C"	"r.(?)"	"p.(Tyr129=)"	""
"0000564208"	"00000132"	"30"	"66"	"0"	"66"	"0"	"c.66A>G"	"r.(?)"	"p.(Ser22=)"	""
"0000616993"	"00000132"	"10"	"3797"	"0"	"3797"	"0"	"c.3797G>A"	"r.(?)"	"p.(Arg1266Gln)"	""
"0000616994"	"00000132"	"30"	"3705"	"0"	"3705"	"0"	"c.3705G>T"	"r.(?)"	"p.(Leu1235=)"	""
"0000616995"	"00000132"	"30"	"3477"	"14"	"3477"	"14"	"c.3477+14C>T"	"r.(=)"	"p.(=)"	""
"0000616996"	"00000132"	"30"	"2973"	"0"	"2973"	"0"	"c.2973G>A"	"r.(?)"	"p.(Gln991=)"	""
"0000616997"	"00000132"	"50"	"2495"	"0"	"2495"	"0"	"c.2495A>G"	"r.(?)"	"p.(Asp832Gly)"	""
"0000616998"	"00000132"	"30"	"2088"	"0"	"2088"	"0"	"c.2088T>C"	"r.(?)"	"p.(Ala696=)"	""
"0000616999"	"00000132"	"50"	"1955"	"0"	"1955"	"0"	"c.1955C>T"	"r.(?)"	"p.(Ser652Leu)"	""
"0000617000"	"00000132"	"30"	"1947"	"17"	"1947"	"17"	"c.1947+17T>G"	"r.(=)"	"p.(=)"	""
"0000617001"	"00000132"	"30"	"1947"	"7"	"1947"	"8"	"c.1947+7_1947+8insCGGG"	"r.(=)"	"p.(=)"	""
"0000617002"	"00000132"	"90"	"1918"	"0"	"1918"	"0"	"c.1918G>A"	"r.(?)"	"p.(Gly640Arg)"	""
"0000617003"	"00000132"	"30"	"1011"	"0"	"1011"	"0"	"c.1011G>T"	"r.(?)"	"p.(Arg337=)"	""
"0000617004"	"00000132"	"50"	"547"	"0"	"547"	"0"	"c.547G>A"	"r.(?)"	"p.(Ala183Thr)"	""
"0000617005"	"00000132"	"30"	"127"	"0"	"127"	"0"	"c.127G>A"	"r.(?)"	"p.(Glu43Lys)"	""
"0000623810"	"00000132"	"30"	"2731"	"0"	"2731"	"0"	"c.2731G>A"	"r.(?)"	"p.(Gly911Ser)"	""
"0000623811"	"00000132"	"30"	"1947"	"13"	"1947"	"14"	"c.1947+13_1947+14insC"	"r.(=)"	"p.(=)"	""
"0000623812"	"00000132"	"30"	"1947"	"16"	"1947"	"17"	"c.1947+16_1947+17insAGGGG"	"r.(=)"	"p.(=)"	""
"0000623813"	"00000132"	"30"	"1947"	"10"	"1947"	"10"	"c.1947+10G>A"	"r.(=)"	"p.(=)"	""
"0000623814"	"00000132"	"10"	"1300"	"0"	"1300"	"0"	"c.1300C>T"	"r.(?)"	"p.(Pro434Ser)"	""
"0000623815"	"00000132"	"30"	"1071"	"0"	"1071"	"0"	"c.1071G>A"	"r.(?)"	"p.(Ser357=)"	""
"0000623816"	"00000132"	"30"	"612"	"0"	"612"	"0"	"c.612C>T"	"r.(?)"	"p.(Thr204=)"	""
"0000649776"	"00000132"	"70"	"3591"	"1"	"3591"	"1"	"c.3591+1G>A"	"r.spl?"	"p.?"	""
"0000649777"	"00000132"	"50"	"3107"	"0"	"3107"	"0"	"c.3107C>T"	"r.(?)"	"p.(Thr1036Met)"	""
"0000649778"	"00000132"	"70"	"2974"	"0"	"2974"	"0"	"c.2974G>C"	"r.(?)"	"p.(Gly992Arg)"	""
"0000649779"	"00000132"	"70"	"2932"	"0"	"2932"	"0"	"c.2932C>T"	"r.(?)"	"p.(Arg978Cys)"	""
"0000649780"	"00000132"	"10"	"1532"	"0"	"1532"	"0"	"c.1532C>T"	"r.(?)"	"p.(Thr511Met)"	""
"0000658322"	"00000132"	"90"	"3614"	"0"	"3614"	"0"	"c.3614C>A"	"r.(?)"	"p.(Thr1205Lys)"	""
"0000658323"	"00000132"	"50"	"3562"	"0"	"3562"	"0"	"c.3562G>C"	"r.(?)"	"p.(Glu1188Gln)"	""
"0000658324"	"00000132"	"50"	"2456"	"0"	"2456"	"0"	"c.2456G>T"	"r.(?)"	"p.(Arg819Leu)"	""
"0000658325"	"00000132"	"30"	"2428"	"0"	"2428"	"0"	"c.2428G>A"	"r.(?)"	"p.(Val810Ile)"	""
"0000658326"	"00000132"	"50"	"2150"	"0"	"2150"	"0"	"c.2150G>A"	"r.(?)"	"p.(Gly717Glu)"	""
"0000658328"	"00000132"	"10"	"1947"	"7"	"1947"	"8"	"c.1947+7_1947+8insCGGG"	"r.(=)"	"p.(=)"	""
"0000658329"	"00000132"	"50"	"180"	"0"	"180"	"0"	"c.180G>T"	"r.(?)"	"p.(Gln60His)"	""
"0000658330"	"00000132"	"30"	"66"	"0"	"66"	"0"	"c.66A>G"	"r.(?)"	"p.(Ser22=)"	""
"0000673984"	"00000132"	"50"	"3206"	"0"	"3206"	"0"	"c.3206T>A"	"r.(?)"	"p.(Met1069Lys)"	""
"0000673985"	"00000132"	"50"	"3467"	"0"	"3467"	"0"	"c.3467A>G"	"r.(?)"	"p.(Asn1156Ser)"	""
"0000675236"	"00000132"	"90"	"3019"	"0"	"3019"	"0"	"c.3019C>G"	"r.(?)"	"p.(Pro1007Ala)"	""
"0000681102"	"00000132"	"70"	"3451"	"0"	"3451"	"0"	"c.3451G>A"	"r.(?)"	"p.(Ala1151Thr)"	""
"0000681104"	"00000132"	"50"	"2245"	"0"	"2245"	"0"	"c.2245G>A"	"r.(?)"	"p.(Gly749Arg)"	""
"0000681105"	"00000132"	"10"	"2131"	"-5"	"2131"	"-4"	"c.2131-5_2131-4del"	"r.spl?"	"p.?"	""
"0000681106"	"00000132"	"30"	"1947"	"16"	"1947"	"17"	"c.1947+16_1947+17insGGTGG"	"r.(=)"	"p.(=)"	""
"0000681107"	"00000132"	"50"	"275"	"0"	"275"	"0"	"c.275A>G"	"r.(?)"	"p.(Gln92Arg)"	""
"0000681108"	"00000132"	"50"	"101"	"0"	"101"	"0"	"c.101C>T"	"r.(?)"	"p.(Ala34Val)"	""
"0000682986"	"00000132"	"70"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000683005"	"00000132"	"70"	"2660"	"0"	"2660"	"0"	"c.2660C>T"	"r.(?)"	"p.(His1069Gln)"	""
"0000692556"	"00000132"	"90"	"3451"	"0"	"3451"	"0"	"c.3451G>A"	"r.(?)"	"p.(Ala1151Thr)"	""
"0000692557"	"00000132"	"50"	"2465"	"0"	"2465"	"0"	"c.2465A>G"	"r.(?)"	"p.(Lys822Arg)"	""
"0000698202"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000726822"	"00000132"	"50"	"3343"	"0"	"3343"	"0"	"c.3343G>T"	"r.(?)"	"p.(Val1115Phe)"	""
"0000726823"	"00000132"	"30"	"3246"	"-20"	"3246"	"-20"	"c.3246-20G>A"	"r.(=)"	"p.(=)"	""
"0000726824"	"00000132"	"50"	"3230"	"0"	"3230"	"0"	"c.3230G>A"	"r.(?)"	"p.(Arg1077Gln)"	""
"0000726826"	"00000132"	"30"	"2268"	"0"	"2268"	"0"	"c.2268C>T"	"r.(?)"	"p.(Ala756=)"	""
"0000726827"	"00000132"	"30"	"1649"	"0"	"1649"	"0"	"c.1649A>G"	"r.(?)"	"p.(Tyr550Cys)"	""
"0000726828"	"00000132"	"30"	"1007"	"0"	"1007"	"0"	"c.1007G>A"	"r.(?)"	"p.(Arg336Lys)"	""
"0000726829"	"00000132"	"50"	"959"	"0"	"959"	"0"	"c.959A>G"	"r.(?)"	"p.(Glu320Gly)"	""
"0000726830"	"00000132"	"50"	"873"	"0"	"873"	"0"	"c.873G>T"	"r.(?)"	"p.(Trp291Cys)"	""
"0000726831"	"00000132"	"30"	"736"	"0"	"736"	"0"	"c.736G>T"	"r.(?)"	"p.(Val246Phe)"	""
"0000726832"	"00000132"	"70"	"410"	"0"	"410"	"0"	"c.410C>T"	"r.(?)"	"p.(Thr137Met)"	""
"0000726833"	"00000132"	"70"	"275"	"0"	"275"	"0"	"c.275A>G"	"r.(?)"	"p.(Gln92Arg)"	""
"0000763070"	"00000132"	"90"	"1"	"0"	"1"	"0"	"c.1A>T"	"r.?"	"p.?"	""
"0000763071"	"00000132"	"90"	"2861"	"0"	"2861"	"0"	"c.2861C>T"	"r.(?)"	"p.(Ser954Leu)"	""
"0000786652"	"00000132"	"90"	"2819"	"0"	"2819"	"0"	"c.2819C>T"	"r.(?)"	"p.(Ser940Leu)"	""
"0000786966"	"00000132"	"50"	"2068"	"0"	"2068"	"0"	"c.2068A>T"	"r.(?)"	"p.(Ile690Phe)"	"13"
"0000787341"	"00000132"	"50"	"445"	"0"	"445"	"0"	"c.445G>A"	"r.(?)"	"p.(Gly149Arg)"	"4"
"0000787508"	"00000132"	"70"	"2604"	"1"	"2604"	"1"	"c.2604+1G>A"	"r.spl"	"p.?"	"17i"
"0000808402"	"00000132"	"30"	"3529"	"0"	"3529"	"0"	"c.3529G>T"	"r.(?)"	"p.(Val1177Leu)"	""
"0000808403"	"00000132"	"30"	"3039"	"0"	"3039"	"0"	"c.3039A>G"	"r.(?)"	"p.(Lys1013=)"	""
"0000808404"	"00000132"	"90"	"2974"	"0"	"2974"	"0"	"c.2974G>C"	"r.(?)"	"p.(Gly992Arg)"	""
"0000808405"	"00000132"	"50"	"2501"	"0"	"2501"	"0"	"c.2501T>C"	"r.(?)"	"p.(Met834Thr)"	""
"0000808406"	"00000132"	"50"	"2445"	"0"	"2445"	"0"	"c.2445C>G"	"r.(?)"	"p.(Ser815Arg)"	""
"0000808407"	"00000132"	"30"	"1998"	"0"	"1998"	"0"	"c.1998C>T"	"r.(?)"	"p.(Ser666=)"	""
"0000808408"	"00000132"	"30"	"127"	"0"	"127"	"0"	"c.127G>A"	"r.(?)"	"p.(Glu43Lys)"	""
"0000855205"	"00000132"	"30"	"3246"	"-20"	"3246"	"-20"	"c.3246-20G>A"	"r.(=)"	"p.(=)"	""
"0000855206"	"00000132"	"30"	"2973"	"0"	"2973"	"0"	"c.2973G>A"	"r.(?)"	"p.(Gln991=)"	""
"0000855207"	"00000132"	"10"	"2131"	"-5"	"2131"	"-4"	"c.2131-5_2131-4del"	"r.spl?"	"p.?"	""
"0000855208"	"00000132"	"30"	"2073"	"0"	"2073"	"0"	"c.2073G>A"	"r.(?)"	"p.(Pro691=)"	""
"0000855209"	"00000132"	"30"	"1947"	"14"	"1947"	"15"	"c.1947+14_1947+15insC"	"r.(=)"	"p.(=)"	""
"0000855210"	"00000132"	"10"	"1947"	"16"	"1947"	"17"	"c.1947+16_1947+17insCGG"	"r.(=)"	"p.(=)"	""
"0000855211"	"00000132"	"10"	"1947"	"16"	"1947"	"16"	"c.1947+16del"	"r.(=)"	"p.(=)"	""
"0000855212"	"00000132"	"30"	"1554"	"-826"	"1554"	"-826"	"c.1554-826C>T"	"r.(=)"	"p.(=)"	""
"0000855213"	"00000132"	"10"	"1554"	"-880"	"1554"	"-880"	"c.1554-880C>G"	"r.(=)"	"p.(=)"	""
"0000855214"	"00000132"	"90"	"306"	"0"	"306"	"0"	"c.306T>G"	"r.(?)"	"p.(Tyr102Ter)"	""
"0000865630"	"00000132"	"30"	"2731"	"0"	"2731"	"0"	"c.2731G>A"	"r.(?)"	"p.(Gly911Ser)"	""
"0000865631"	"00000132"	"30"	"1947"	"10"	"1947"	"11"	"c.1947+10_1947+11insC"	"r.(=)"	"p.(=)"	""
"0000865632"	"00000132"	"30"	"1947"	"10"	"1947"	"10"	"c.1947+10G>A"	"r.(=)"	"p.(=)"	""
"0000865633"	"00000132"	"30"	"1071"	"0"	"1071"	"0"	"c.1071G>A"	"r.(?)"	"p.(Ser357=)"	""
"0000894433"	"00000132"	"10"	"2103"	"0"	"2103"	"0"	"c.2103C>T"	"r.(?)"	"p.(Asn701=)"	""
"0000894434"	"00000132"	"30"	"1947"	"10"	"1947"	"10"	"c.1947+10G>C"	"r.(=)"	"p.(=)"	""
"0000894435"	"00000132"	"90"	"1281"	"0"	"1284"	"0"	"c.1281_1284dup"	"r.(?)"	"p.(Val429*)"	""
"0000915020"	"00000132"	"30"	"3561"	"0"	"3561"	"0"	"c.3561G>T"	"r.(?)"	"p.(Ala1187=)"	""
"0000915021"	"00000132"	"30"	"1947"	"7"	"1947"	"8"	"c.1947+7_1947+8insCGGGG"	"r.(=)"	"p.(=)"	""
"0000915022"	"00000132"	"10"	"1947"	"16"	"1947"	"16"	"c.1947+16del"	"r.(=)"	"p.(=)"	""
"0000918953"	"00000132"	"70"	"2833"	"0"	"2833"	"0"	"c.2833G>A"	"r.(?)"	"p.(Asp945Asn)"	""
"0000918970"	"00000132"	"90"	"1421"	"0"	"1421"	"0"	"c.1421C>T"	"r.(?)"	"p.(Pro474Leu)"	""
"0000918976"	"00000132"	"70"	"2933"	"0"	"2933"	"0"	"c.2933G>A"	"r.(?)"	"p.(Arg978His)"	""
"0000921975"	"00000132"	"70"	""	"0"	""	"0"	"c.-274_(57+1_58-1){0}"	"r.0"	"p.0"	"_1_1i"
"0000921976"	"00000132"	"70"	"385"	"0"	"385"	"0"	"c.385del"	"r.(?)"	"p.(Tyr129MetfsTer13)"	""
"0000921977"	"00000132"	"70"	"1553"	"1342"	"1655"	"-291"	"c.1553+1342_1655-291del"	"r.(1553_1654del)"	"p.?"	"9i_10i"
"0000921978"	"00000132"	"70"	"1757"	"0"	"1757"	"0"	"c.1757del"	"r.(?)"	"p.(Glu586GlyfsTer6)"	""
"0000921979"	"00000132"	"90"	"2830"	"0"	"2830"	"0"	"c.2830G>A"	"r.(?)"	"p.(Asp944Asn)"	""
"0000921980"	"00000132"	"90"	"352"	"0"	"353"	"0"	"c.352_353del"	"r.(?)"	"p.(Gln119ValfsTer8)"	""
"0000921981"	"00000132"	"90"	"2882"	"0"	"2897"	"0"	"c.2882_2897delinsG"	"r.(?)"	"p.(Asn961_Phe966delinsSer)"	""
"0000921982"	"00000132"	"30"	"3561"	"0"	"3561"	"0"	"c.3561G>T"	"r.(?)"	"p.(Ala1187=)"	""
"0000921983"	"00000132"	"90"	"2746"	"0"	"2748"	"0"	"c.2746_2748del"	"r.(?)"	"p.(Asn916del)"	""
"0000921984"	"00000132"	"90"	"3104"	"0"	"3104"	"0"	"c.3104C>T"	"r.(?)"	"p.(Ala1035Val)"	""
"0000921985"	"00000132"	"90"	"530"	"0"	"530"	"0"	"c.530G>A"	"r.(?)"	"p.(Cys177Tyr)"	""
"0000921986"	"00000132"	"90"	"2974"	"0"	"2974"	"0"	"c.2974G>T"	"r.(?)"	"p.(Gly992Trp)"	""
"0000921988"	"00000132"	"90"	"852"	"0"	"852"	"0"	"c.852del"	"r.(?)"	"p.(Phe284LeufsTer26)"	"6"
"0000921989"	"00000132"	"90"	"1819"	"0"	"1819"	"0"	"c.1819C>T"	"r.(?)"	"p.(Arg607Ter)"	"12"
"0000921990"	"00000132"	"90"	"2800"	"0"	"2800"	"0"	"c.2800C>T"	"r.(?)"	"p.(Arg934Ter)"	"19"
"0000921992"	"00000132"	"90"	"852"	"0"	"852"	"0"	"c.852del"	"r.(?)"	"p.(Phe284LeufsTer26)"	"6"
"0000921993"	"00000132"	"90"	"2972"	"0"	"2973"	"0"	"c.2972_2973del"	"r.(?)"	"p.(Gln991ArgfsTer15)"	"19"
"0000921994"	"00000132"	"90"	"1901"	"0"	"1901"	"0"	"c.1901A>G"	"r.(?)"	"p.(Tyr634Cys)"	"12"
"0000921995"	"00000132"	"90"	"1819"	"0"	"1819"	"0"	"c.1819C>T"	"r.(?)"	"p.(Arg607Ter)"	"12"
"0000921996"	"00000132"	"90"	"93"	"0"	"94"	"0"	"c.93_94del"	"r.(?)"	"p.(Cys31TrpfsTer26)"	"2"
"0000921997"	"00000132"	"90"	"464"	"-2"	"464"	"-2"	"c.464-2A>C"	"r.0"	"p.0"	"4i"
"0000921998"	"00000132"	"90"	"464"	"-2"	"464"	"-2"	"c.464-2A>C"	"r.0"	"p.0"	"4i"
"0000921999"	"00000132"	"90"	"3467"	"0"	"3467"	"0"	"c.3467A>G"	"r.(?)"	"p.(Asn1156Ser)"	"22"
"0000922000"	"00000132"	"90"	"3613"	"0"	"3613"	"0"	"c.3613dup"	"r.(?)"	"p.(Thr1205AsnfsTer53)"	"24"
"0000922001"	"00000132"	"90"	"2800"	"0"	"2800"	"0"	"c.2800C>T"	"r.(?)"	"p.(Arg934Ter)"	"19"
"0000922002"	"00000132"	"90"	"2829"	"0"	"2829"	"0"	"c.2829C>G"	"r.(?)"	"p.(Ile943Met)"	"19"
"0000922005"	"00000132"	"90"	"2776"	"0"	"2776"	"0"	"c.2776G>A"	"r.(?)"	"p.(Ala926Thr)"	"18"
"0000922006"	"00000132"	"90"	"3571"	"0"	"3571"	"0"	"c.3571C>T"	"r.(?)"	"p.(Leu1191Phe)"	"23"
"0000922007"	"00000132"	"90"	"3068"	"0"	"3068"	"0"	"c.3068T>G"	"r.(?)"	"p.(Val1023Gly)"	"21"
"0000922008"	"00000132"	"90"	"1535"	"0"	"1535"	"0"	"c.1535A>G"	"r.(?)"	"p.(His512Arg)"	"9"
"0000922009"	"00000132"	"90"	"852"	"0"	"852"	"0"	"c.852del"	"r.(?)"	"p.(Phe284LeufsTer26)"	"6"
"0000922010"	"00000132"	"90"	"2972"	"0"	"2973"	"0"	"c.2972_2973del"	"r.(?)"	"p.(Gln991ArgfsTer15)"	"19"
"0000922011"	"00000132"	"90"	"852"	"0"	"852"	"0"	"c.852del"	"r.(?)"	"p.(Phe284LeufsTer26)"	"6"
"0000922012"	"00000132"	"90"	"710"	"0"	"710"	"0"	"c.710C>T"	"r.(?)"	"p.(Pro237Leu)"	"6"
"0000922013"	"00000132"	"90"	"3019"	"0"	"3019"	"0"	"c.3019C>G"	"r.(?)"	"p.(Pro1007Ala)"	"19"
"0000922014"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	"21"
"0000922015"	"00000132"	"90"	"298"	"0"	"298"	"0"	"c.298T>A"	"r.(?)"	"p.(Cys100Ser)"	"4"
"0000922016"	"00000132"	"90"	"2662"	"0"	"2662"	"0"	"c.2662C>T"	"r.(?)"	"p.(Pro888Ser)"	"18"
"0000922017"	"00000132"	"90"	"2762"	"0"	"2762"	"0"	"c.2762A>C"	"r.(?)"	"p.(Gln921Pro)"	"18"
"0000922018"	"00000132"	"90"	"2800"	"0"	"2800"	"0"	"c.2800C>T"	"r.(?)"	"p.(Arg934Ter)"	"19"
"0000922019"	"00000132"	"90"	"2800"	"0"	"2800"	"0"	"c.2800C>T"	"r.(?)"	"p.(Arg934Ter)"	"19"
"0000922020"	"00000132"	"90"	"2800"	"0"	"2800"	"0"	"c.2800C>T"	"r.(?)"	"p.(Arg934Ter)"	"19"
"0000922021"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	"21"
"0000922022"	"00000132"	"90"	"2762"	"0"	"2762"	"0"	"c.2762A>C"	"r.(?)"	"p.(Gln921Pro)"	"18"
"0000922023"	"00000132"	"90"	"2762"	"0"	"2762"	"0"	"c.2762A>C"	"r.(?)"	"p.(Gln921Pro)"	"18"
"0000922024"	"00000132"	"90"	"1415"	"0"	"1415"	"0"	"c.1415T>A"	"r.(?)"	"p.(Leu472His)"	"9"
"0000922025"	"00000132"	"90"	"1907"	"0"	"1907"	"0"	"c.1907C>T"	"r.(?)"	"p.(Ser636Phe)"	"12"
"0000922026"	"00000132"	"90"	"665"	"0"	"665"	"0"	"c.665A>G"	"r.(?)"	"p.(Asn222Ser)"	"6"
"0000922027"	"00000132"	"90"	"1166"	"0"	"1166"	"0"	"c.1166G>T"	"r.(?)"	"p.(Arg389Leu)"	"8"
"0000922028"	"00000132"	"90"	"1339"	"0"	"1339"	"0"	"c.1339C>T"	"r.(?)"	"p.(Gln447Ter)"	"9"
"0000922029"	"00000132"	"90"	"3019"	"0"	"3019"	"0"	"c.3019C>G"	"r.(?)"	"p.(Pro1007Ala)"	"19"
"0000922030"	"00000132"	"90"	"2762"	"0"	"2762"	"0"	"c.2762A>C"	"r.(?)"	"p.(Gln921Pro)"	"18"
"0000922031"	"00000132"	"90"	"3056"	"0"	"3056"	"0"	"c.3056A>G"	"r.(?)"	"p.(Tyr1019Cys)"	"21"
"0000922032"	"00000132"	"90"	"3614"	"0"	"3614"	"0"	"c.3614C>A"	"r.(?)"	"p.(Thr1205Lys)"	"24"
"0000922033"	"00000132"	"90"	"3562"	"0"	"3562"	"0"	"c.3562del"	"r.(?)"	"p.(Glu1188LysfsTer54)"	"23"
"0000922034"	"00000132"	"90"	"3614"	"0"	"3614"	"0"	"c.3614C>A"	"r.(?)"	"p.(Thr1205Lys)"	"24"
"0000922035"	"00000132"	"90"	"3731"	"0"	"3731"	"0"	"c.3731T>C"	"r.(?)"	"p.(Leu1244Pro)"	"24"
"0000922036"	"00000132"	"90"	"3056"	"0"	"3056"	"0"	"c.3056A>G"	"r.(?)"	"p.(Tyr1019Cys)"	"21"
"0000922037"	"00000132"	"90"	"3056"	"0"	"3056"	"0"	"c.3056A>G"	"r.(?)"	"p.(Tyr1019Cys)"	"21"
"0000922038"	"00000132"	"90"	"3304"	"0"	"3304"	"0"	"c.3304C>T"	"r.(?)"	"p.(Leu1102Phe)"	"22"
"0000922039"	"00000132"	"90"	"3614"	"0"	"3614"	"0"	"c.3614C>A"	"r.(?)"	"p.(Thr1205Lys)"	"24"
"0000922040"	"00000132"	"50"	"1943"	"0"	"1943"	"0"	"c.1943T>A"	"r.(?)"	"p.(Leu648His)"	"12"
"0000922041"	"00000132"	"90"	"2761"	"0"	"2761"	"0"	"c.2761C>T"	"r.(?)"	"p.(Gln921Ter)"	"18"
"0000922042"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	"21"
"0000922043"	"00000132"	"90"	"2903"	"0"	"2903"	"0"	"c.2903A>G"	"r.(?)"	"p.(Asn968Ser)"	"19"
"0000922044"	"00000132"	"90"	"2903"	"0"	"2903"	"0"	"c.2903A>G"	"r.(?)"	"p.(Asn968Ser)"	"19"
"0000922045"	"00000132"	"90"	"3230"	"0"	"3230"	"0"	"c.3230G>A"	"r.(?)"	"p.(Arg1077Gln)"	"21"
"0000922046"	"00000132"	"90"	"3560"	"0"	"3560"	"0"	"c.3560C>T"	"r.(?)"	"p.(Ala1187Val)"	"23"
"0000922047"	"00000132"	"90"	"3614"	"0"	"3614"	"0"	"c.3614C>A"	"r.(?)"	"p.(Thr1205Lys)"	"24"
"0000922048"	"00000132"	"90"	"2339"	"0"	"2339"	"0"	"c.2339T>G"	"r.(?)"	"p.(Val780Gly)"	"15"
"0000922049"	"00000132"	"90"	"2872"	"0"	"2872"	"0"	"c.2872C>T"	"r.(?)"	"p.(Arg958Ter)"	"19"
"0000922050"	"00000132"	"90"	"3425"	"0"	"3425"	"0"	"c.3425T>C"	"r.(?)"	"p.(Met1142Thr)"	"22"
"0000922064"	"00000132"	"10"	"2572"	"0"	"2572"	"0"	"c.2572A>G"	"r.(?)"	"p.(Ile858Val)"	""
"0000922065"	"00000132"	"10"	"2793"	"0"	"2793"	"0"	"c.2793C>T"	"r.(=)"	"p.(Asn931=)"	""
"0000922066"	"00000132"	"10"	"2911"	"28"	"2911"	"28"	"c.2911+28T>C"	"r.(=)"	"p.(=)"	"19i"
"0000922067"	"00000132"	"10"	"644"	"0"	"644"	"0"	"c.644A>G"	"r.(?)"	"p.(His215Arg)"	"6"
"0000922076"	"00000132"	"90"	"2972"	"0"	"2973"	"0"	"c.2972_2973del"	"r.(?)"	"p.(Gln991ArgfsTer15)"	"20"
"0000922077"	"00000132"	"90"	"1130"	"0"	"1130"	"0"	"c.1130del"	"r.(?)"	"p.(Pro377GlnfsTer72)"	"8"
"0000922078"	"00000132"	"90"	"1654"	"1"	"1654"	"1"	"c.1654+1G>T"	"r.spl"	"p.?"	"10i"
"0000922079"	"00000132"	"90"	"1628"	"0"	"1628"	"0"	"c.1628C>T"	"r.(?)"	"p.(Pro543Leu)"	"10"
"0000922080"	"00000132"	"90"	"425"	"0"	"428"	"0"	"c.425_428del"	"r.(?)"	"p.(Lys142SerfsTer78)"	"4"
"0000922081"	"00000132"	"90"	"1029"	"0"	"1029"	"0"	"c.1029dup"	"r.(?)"	"p.(Ser344ValfsTer36)"	"8"
"0000922082"	"00000132"	"90"	"530"	"0"	"530"	"0"	"c.530G>A"	"r.(?)"	"p.(Cys177Tyr)"	"5"
"0000922083"	"00000132"	"90"	"567"	"0"	"567"	"0"	"c.567G>A"	"r.(?)"	"p.(Trp189Ter)"	"5"
"0000922084"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	"21"
"0000922085"	"00000132"	"90"	"1892"	"0"	"1892"	"0"	"c.1892T>G"	"r.(?)"	"p.(Met631Arg)"	"12"
"0000922086"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	"21"
"0000922087"	"00000132"	"90"	"1261"	"0"	"1261"	"0"	"c.1261C>T"	"r.(?)"	"p.(Gln421Ter)"	"8"
"0000922088"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	"21"
"0000922089"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	"21"
"0000922090"	"00000132"	"90"	"1211"	"0"	"1211"	"0"	"c.1211G>C"	"r.(?)"	"p.(Arg404Pro)"	"8"
"0000922091"	"00000132"	"90"	"288"	"-8"	"288"	"-3"	"c.288-8_288-3delCTTTTC"	"r.(?)"	"p.?"	"3i"
"0000922092"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	"21"
"0000922093"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	"21"
"0000922094"	"00000132"	"90"	"497"	"0"	"497"	"0"	"c.497C>T"	"r.(?)"	"p.(Pro166Leu)"	"5"
"0000922095"	"00000132"	"90"	"1844"	"0"	"1844"	"0"	"c.1844G>T"	"r.(?)"	"p.(Arg615Leu)"	"12"
"0000922096"	"00000132"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.spl?"	"p.Gln19fs)"	"1_1i"
"0000922097"	"00000132"	"90"	"2749"	"0"	"2749"	"0"	"c.2749G>T"	"r.(?)"	"p.(Asp917Tyr)"	"18"
"0000922098"	"00000132"	"90"	"3019"	"0"	"3019"	"0"	"c.3019C>G"	"r.(?)"	"p.(Pro1007Ala)"	"20"
"0000922099"	"00000132"	"90"	"2903"	"0"	"2903"	"0"	"c.2903A>G"	"r.(?)"	"p.(Asn968Ser)"	"19"
"0000922100"	"00000132"	"90"	"1611"	"0"	"1611"	"0"	"c.1611T>A"	"r.(?)"	"p.(Phe537Leu)"	"10"
"0000922101"	"00000132"	"90"	"2287"	"0"	"2287"	"0"	"c.2287T>C"	"r.(?)"	"p.(Phe763Leu)"	"15"
"0000922102"	"00000132"	"90"	"2474"	"0"	"2474"	"0"	"c.2474A>G"	"r.(?)"	"p.(Tyr825Cys)"	"16"
"0000922103"	"00000132"	"90"	"847"	"0"	"848"	"0"	"c.847_848insGG"	"r.(?)"	"p.(Phe283TrpfsTer28)"	"6"
"0000922104"	"00000132"	"90"	"2848"	"0"	"2848"	"0"	"c.2848G>A"	"r.(?)"	"p.(Val950Met)"	"19"
"0000922105"	"00000132"	"90"	"2975"	"0"	"2975"	"0"	"c.2975G>A"	"r.(?)"	"p.(Gly992Glu)"	"20"
"0000922106"	"00000132"	"90"	"3477"	"1"	"3477"	"1"	"c.3477+1G>A"	"r.spl"	"p.?"	"22i"
"0000922107"	"00000132"	"90"	"2801"	"0"	"2801"	"0"	"c.2801G>A"	"r.(?)"	"p.(Arg934Gln)"	"19"
"0000922108"	"00000132"	"90"	"2974"	"0"	"2974"	"0"	"c.2974G>T"	"r.(?)"	"p.(Gly992Trp)"	"20"
"0000922111"	"00000132"	"90"	"2908"	"0"	"2908"	"0"	"c.2908dup"	"r.(?)"	"p.(Ser970PhefsTer4)"	"19"
"0000922112"	"00000132"	"90"	"3718"	"0"	"3718"	"0"	"c.3718G>C"	"r.(?)"	"p.(Gly1240Arg)"	"24"
"0000922113"	"00000132"	"90"	"2594"	"0"	"2594"	"0"	"c.2594C>T"	"r.(?)"	"p.(Ser865Leu)"	"17"
"0000922114"	"00000132"	"90"	"3557"	"0"	"3557"	"0"	"c.3557G>A"	"r.(?)"	"p.(Arg1186His)"	"23"
"0000922115"	"00000132"	"90"	"2749"	"0"	"2749"	"0"	"c.2749G>T"	"r.(?)"	"p.(Asp917Tyr)"	"18"
"0000922116"	"00000132"	"90"	"3461"	"0"	"3461"	"0"	"c.3461T>A"	"r.(?)"	"p.(Leu1154Ter)"	"22"
"0000922117"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	"21"
"0000922118"	"00000132"	"90"	"3107"	"0"	"3107"	"0"	"c.3107C>T"	"r.(?)"	"p.(Thr1036Met)"	"21"
"0000922119"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	"21"
"0000922120"	"00000132"	"90"	"3185"	"0"	"3185"	"0"	"c.3185C>T"	"r.(?)"	"p.(Ala1062Val)"	"21"
"0000922121"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	"21"
"0000922122"	"00000132"	"90"	"3647"	"0"	"3647"	"0"	"c.3647C>T"	"r.(?)"	"p.(Ala1216Val)"	"24"
"0000922123"	"00000132"	"90"	"2819"	"0"	"2819"	"0"	"c.2819C>T"	"r.(?)"	"p.(Ser940Leu)"	"19"
"0000922124"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	"21"
"0000922125"	"00000132"	"90"	"2585"	"0"	"2585"	"0"	"c.2585A>T"	"r.(?)"	"p.(Gln862Leu)"	"17"
"0000922126"	"00000132"	"90"	"3019"	"0"	"3019"	"0"	"c.3019C>G"	"r.(?)"	"p.(Pro1007Ala)"	"20"
"0000922127"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	"21"
"0000922128"	"00000132"	"90"	"3688"	"0"	"3689"	"0"	"c.3688_3689insAATA"	"r.(?)"	"p.(Leu1230Ter)"	"24"
"0000922129"	"00000132"	"90"	"3019"	"0"	"3019"	"0"	"c.3019C>G"	"r.(?)"	"p.(Pro1007Ala)"	"20"
"0000922130"	"00000132"	"90"	"2612"	"0"	"2612"	"0"	"c.2612A>G"	"r.(?)"	"p.(Tyr871Cys)"	"18"
"0000922131"	"00000132"	"90"	"2974"	"0"	"2974"	"0"	"c.2974G>A"	"r.(?)"	"p.(Gly992Arg)"	"20"
"0000922132"	"00000132"	"90"	"3289"	"0"	"3289"	"0"	"c.3289G>A"	"r.(?)"	"p.(Asp1097Asn)"	"22"
"0000922133"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	"21"
"0000922134"	"00000132"	"90"	"2978"	"0"	"2978"	"0"	"c.2978delG"	"r.(?)"	"p.(Gly993GlufsTer4)"	"20"
"0000922135"	"00000132"	"90"	"3521"	"0"	"3521"	"0"	"c.3521C>T"	"r.(?)"	"p.(Ala1174Val)"	"23"
"0000922136"	"00000132"	"90"	"2972"	"0"	"2972"	"0"	"c.2972dup"	"r.(?)"	"p.(Asp994ArgfsTer13)"	"20"
"0000922137"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	"21"
"0000922139"	"00000132"	"10"	"66"	"0"	"66"	"0"	"c.66A>B"	"r.(?)"	"p.(Ser22=)"	"20"
"0000922140"	"00000132"	"10"	"463"	"21"	"463"	"21"	"c.463+21T>G"	"r.(?)"	"p.(=)"	"8"
"0000922141"	"00000132"	"10"	"512"	"0"	"512"	"0"	"c.512A>T"	"r.(?)"	"p.(Lys171Met)"	"10i"
"0000922142"	"00000132"	"10"	"1757"	"19"	"1757"	"19"	"c.1757+19T>C"	"r.(?)"	"p.(=)"	"10"
"0000922143"	"00000132"	"10"	"2661"	"0"	"2661"	"0"	"c.2661G>H"	"r.(?)"	"p.(Pro887=)"	"4"
"0000922144"	"00000132"	"10"	"1947"	"14"	"1947"	"14"	"c.1947+14G>T"	"r.(?)"	"p.(=)"	"8"
"0000922145"	"00000132"	"10"	"1947"	"16"	"1947"	"16"	"c.1947+16del"	"r.(?)"	"p.(=)"	"5"
"0000922146"	"00000132"	"10"	"2911"	"28"	"2911"	"28"	"c.2911+28T>C"	"r.(?)"	"p.(=)"	"5"
"0000922147"	"00000132"	"10"	"3219"	"0"	"3219"	"0"	"c.3219C>D"	"r.(?)"	"p.(Gly1073=)"	"21"
"0000922148"	"00000132"	"10"	"3561"	"0"	"3561"	"0"	"c.3561G>H"	"r.(?)"	"p.(Ala1187=)"	"12"
"0000922149"	"00000132"	"10"	"3732"	"0"	"3732"	"0"	"c.3732C>D"	"r.(?)"	"p.(Leu1244=)"	"21"
"0000922180"	"00000132"	"90"	"1997"	"0"	"1997"	"0"	"c.1997G>A"	"r.(?)"	"p.(Ser666Asn)"	""
"0000922181"	"00000132"	"90"	"2882"	"0"	"2882"	"0"	"c.2882A>G"	"r.(?)"	"p.(Asn961Ser)"	""
"0000922182"	"00000132"	"10"	"387"	"0"	"387"	"0"	"c.387T>C"	"r.(=)"	"p.(Tyr129=)"	""
"0000922183"	"00000132"	"10"	"2572"	"0"	"2572"	"0"	"c.2572A>G"	"r.(?)"	"p.(Ile858Val)"	""
"0000922184"	"00000132"	"10"	"644"	"0"	"644"	"0"	"c.644A>G"	"r.(?)"	"p.(His215Arg)"	""
"0000922185"	"00000132"	"10"	"2793"	"0"	"2793"	"0"	"c.2793C>T"	"r.(=)"	"p.(Asn931=)"	""
"0000922186"	"00000132"	"10"	"2911"	"28"	"2911"	"28"	"c.2911+28T>C"	"r.(=)"	"p.(=)"	"19i"
"0000922215"	"00000132"	"90"	"671"	"0"	"674"	"0"	"c.671_674del"	"r.(?)"	"p.(Thr224LysfsTer85)"	""
"0000922216"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000922217"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000922218"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000922219"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000922220"	"00000132"	"90"	"3107"	"0"	"3107"	"0"	"c.3107C>T"	"r.(?)"	"p.(Thr1036Met)"	""
"0000922221"	"00000132"	"90"	"3107"	"0"	"3107"	"0"	"c.3107C>T"	"r.(?)"	"p.(Thr1036Met)"	""
"0000922222"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000922223"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000922224"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000922225"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000922226"	"00000132"	"90"	"3176"	"0"	"3176"	"0"	"c.3176G>A"	"r.(?)"	"p.(Arg1059Gln)"	""
"0000922227"	"00000132"	"90"	"2336"	"0"	"2336"	"0"	"c.2336del"	"r.(?)"	"p.(Phe779SerfsTer2)"	""
"0000922228"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000922229"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000922230"	"00000132"	"90"	"2801"	"0"	"2801"	"0"	"c.2801G>A"	"r.(?)"	"p.(Arg934Gln)"	""
"0000922231"	"00000132"	"90"	"3499"	"0"	"3499"	"0"	"c.3499T>C"	"r.(?)"	"p.(Phe1167Leu)"	""
"0000922232"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000922233"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000922234"	"00000132"	"90"	"2336"	"0"	"2336"	"0"	"c.2336del"	"r.(?)"	"p.(Phe779SerfsTer2)"	""
"0000922235"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000922236"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000922237"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000922238"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000922239"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000922240"	"00000132"	"90"	"2819"	"0"	"2819"	"0"	"c.2819C>T"	"r.(?)"	"p.(Ser940Leu)"	""
"0000922241"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000922242"	"00000132"	"90"	"3591"	"4"	"3591"	"4"	"c.3591+4del"	"r.spl"	"p.?"	""
"0000922243"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000922244"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000922245"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000922246"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000922247"	"00000132"	"90"	"3503"	"0"	"3503"	"0"	"c.3503G>A"	"r.(?)"	"p.(Cys1168Tyr)"	""
"0000922248"	"00000132"	"90"	"2324"	"0"	"2324"	"0"	"c.2324A>C"	"r.(?)"	"p.(Gln775Pro)"	""
"0000922249"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000922250"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000922251"	"00000132"	"90"	"1844"	"0"	"1844"	"0"	"c.1844G>T"	"r.(?)"	"p.(Arg615Leu)"	""
"0000922252"	"00000132"	"90"	"3467"	"0"	"3467"	"0"	"c.3467A>G"	"r.(?)"	"p.(Asn1156Ser)"	""
"0000922253"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000922254"	"00000132"	"90"	"2819"	"0"	"2819"	"0"	"c.2819C>T"	"r.(?)"	"p.(Ser940Leu)"	""
"0000922255"	"00000132"	"90"	"3467"	"0"	"3467"	"0"	"c.3467A>G"	"r.(?)"	"p.(Asn1156Ser)"	""
"0000922256"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000922257"	"00000132"	"90"	"1019"	"0"	"1019"	"0"	"c.1019C>T"	"r.(?)"	"p.(Thr340Ile)"	""
"0000922258"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000922259"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000922260"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000922261"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000922262"	"00000132"	"90"	"2621"	"0"	"2621"	"0"	"c.2621A>T"	"r.(?)"	"p.(Asp874Val)"	""
"0000922263"	"00000132"	"90"	"3467"	"0"	"3467"	"0"	"c.3467A>G"	"r.(?)"	"p.(Asn1156Ser)"	""
"0000922264"	"00000132"	"90"	"1019"	"0"	"1019"	"0"	"c.1019C>T"	"r.(?)"	"p.(Thr340Ile)"	""
"0000922265"	"00000132"	"90"	"3263"	"0"	"3263"	"0"	"c.3263A>G"	"r.(?)"	"p.(Tyr1088Cys)"	""
"0000922266"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000922267"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000922268"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000922269"	"00000132"	"90"	"1095"	"0"	"1097"	"0"	"c.1095_1097del"	"r.(?)"	"p.(Ser366del)"	""
"0000922270"	"00000132"	"90"	"2972"	"0"	"2973"	"0"	"c.2972_2973del"	"r.(?)"	"p.(Gln991ArgfsTer15)"	""
"0000922271"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000922272"	"00000132"	"90"	"1552"	"0"	"1552"	"0"	"c.1552C>T"	"r.(?)"	"p.(Arg518Trp)"	""
"0000922273"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000922274"	"00000132"	"90"	"419"	"0"	"420"	"0"	"c.419_420insC"	"r.(?)"	"p.(Val141CysfsTer29)"	""
"0000922275"	"00000132"	"90"	"1552"	"0"	"1552"	"0"	"c.1552C>T"	"r.(?)"	"p.(Arg518Trp)"	""
"0000922276"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000922277"	"00000132"	"90"	"1552"	"0"	"1552"	"0"	"c.1552C>T"	"r.(?)"	"p.(Arg518Trp)"	""
"0000922278"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000922279"	"00000132"	"90"	"1843"	"0"	"1843"	"0"	"c.1843C>T"	"r.(?)"	"p.(Arg615Cys)"	""
"0000922280"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000922281"	"00000132"	"90"	"3499"	"0"	"3499"	"0"	"c.3499T>C"	"r.(?)"	"p.(Phe1167Leu)"	""
"0000922282"	"00000132"	"90"	"3499"	"0"	"3499"	"0"	"c.3499T>C"	"r.(?)"	"p.(Phe1167Leu)"	""
"0000922283"	"00000132"	"90"	"3499"	"0"	"3499"	"0"	"c.3499T>C"	"r.(?)"	"p.(Phe1167Leu)"	""
"0000922284"	"00000132"	"90"	"1095"	"0"	"1097"	"0"	"c.1095_1097del"	"r.(?)"	"p.(Ser366del)"	""
"0000922285"	"00000132"	"90"	"2008"	"0"	"2011"	"0"	"c.2008_2011del"	"r.(?)"	"p.(Cys670ProfsTer12)"	""
"0000922286"	"00000132"	"90"	"962"	"0"	"971"	"0"	"c.962_971del"	"r.(?)"	"p.(Ala321ValfsTer12)"	""
"0000922287"	"00000132"	"50"	"3467"	"0"	"3467"	"0"	"c.3467A>G"	"r.(?)"	"p.(Asn1156Ser)"	""
"0000922288"	"00000132"	"90"	"3175"	"0"	"3175"	"0"	"c.3175C>T"	"r.(?)"	"p.(Arg1059Ter)"	""
"0000922289"	"00000132"	"90"	"3557"	"0"	"3557"	"0"	"c.3557G>A"	"r.(?)"	"p.(Arg1186His)"	""
"0000922290"	"00000132"	"90"	"3557"	"0"	"3557"	"0"	"c.3557G>A"	"r.(?)"	"p.(Arg1186His)"	""
"0000922291"	"00000132"	"90"	"1143"	"0"	"1143"	"0"	"c.1143G>A"	"r.(?)"	"p.(Trp381Ter)"	""
"0000922292"	"00000132"	"90"	"2621"	"0"	"2621"	"0"	"c.2621A>T"	"r.(?)"	"p.(Asp874Val)"	""
"0000922293"	"00000132"	"90"	"3467"	"0"	"3467"	"0"	"c.3467A>G"	"r.(?)"	"p.(Asn1156Ser)"	""
"0000922294"	"00000132"	"90"	"2978"	"0"	"2978"	"0"	"c.2978del"	"r.(?)"	"p.(Gly993GlufsTer4)"	""
"0000922295"	"00000132"	"50"	"2873"	"0"	"2873"	"0"	"c.2873G>A"	"r.(?)"	"p.(Arg958Gln)"	""
"0000922296"	"00000132"	"90"	"2974"	"0"	"2974"	"0"	"c.2974G>T"	"r.(?)"	"p.(Gly992Trp)"	""
"0000922297"	"00000132"	"90"	"2621"	"0"	"2621"	"0"	"c.2621A>T"	"r.(?)"	"p.(Asp874Val)"	""
"0000922298"	"00000132"	"90"	"2801"	"0"	"2801"	"0"	"c.2801G>A"	"r.(?)"	"p.(Arg934Gln)"	""
"0000922299"	"00000132"	"90"	"2656"	"0"	"2656"	"0"	"c.2656G>C"	"r.(?)"	"p.(Gly886Arg)"	""
"0000922300"	"00000132"	"90"	"3493"	"0"	"3493"	"0"	"c.3493G>A"	"r.(?)"	"p.(Val1165Met)"	""
"0000922301"	"00000132"	"90"	"2956"	"0"	"2956"	"0"	"c.2956G>C"	"r.(?)"	"p.(Gly986Arg)"	""
"0000922302"	"00000132"	"90"	"3107"	"0"	"3107"	"0"	"c.3107C>T"	"r.(?)"	"p.(Thr1036Met)"	""
"0000922303"	"00000132"	"90"	"1019"	"0"	"1019"	"0"	"c.1019C>G"	"r.(?)"	"p.(Thr340Arg)"	""
"0000922304"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000922305"	"00000132"	"90"	"3566"	"0"	"3566"	"0"	"c.3566A>G"	"r.(?)"	"p.(Glu1189Gly)"	""
"0000922306"	"00000132"	"90"	"3591"	"4"	"3591"	"4"	"c.3591+4del"	"r.spl"	"p.?"	""
"0000922307"	"00000132"	"90"	"1019"	"0"	"1019"	"0"	"c.1019C>G"	"r.(?)"	"p.(Thr340Arg)"	""
"0000922308"	"00000132"	"90"	"1019"	"0"	"1019"	"0"	"c.1019C>G"	"r.(?)"	"p.(Thr340Arg)"	""
"0000922309"	"00000132"	"90"	"2336"	"0"	"2336"	"0"	"c.2336del"	"r.(?)"	"p.(Phe779SerfsTer2)"	""
"0000922310"	"00000132"	"50"	"2873"	"0"	"2873"	"0"	"c.2873G>A"	"r.(?)"	"p.(Arg958Gln)"	""
"0000922311"	"00000132"	"90"	"3591"	"4"	"3591"	"4"	"c.3591+4del"	"r.spl"	"p.?"	""
"0000922312"	"00000132"	"50"	"2873"	"0"	"2873"	"0"	"c.2873G>A"	"r.(?)"	"p.(Arg958Gln)"	""
"0000922313"	"00000132"	"50"	"2873"	"0"	"2873"	"0"	"c.2873G>A"	"r.(?)"	"p.(Arg958Gln)"	""
"0000922314"	"00000132"	"50"	"2873"	"0"	"2873"	"0"	"c.2873G>A"	"r.(?)"	"p.(Arg958Gln)"	""
"0000922315"	"00000132"	"90"	"709"	"0"	"709"	"0"	"c.709C>T"	"r.709c>u"	"p.Pro237Ser"	"6"
"0000922316"	"00000132"	"90"	"692"	"0"	"692"	"0"	"c.692T>G"	"r.692u>g"	"p.Val231Gly"	"6"
"0000922317"	"00000132"	"90"	"2621"	"0"	"2621"	"0"	"c.2621A>G"	"r.2621a>g"	"p.Asp874Gly"	"18"
"0000922318"	"00000132"	"90"	"2842"	"0"	"2842"	"0"	"c.2842G>A"	"r.2842a>g"	"p.Asp948Asn"	"19"
"0000922319"	"00000132"	"90"	"1926"	"0"	"1926"	"0"	"c.1926G>C"	"r.1926c>g"	"p.Met642Ile"	"12"
"0000922320"	"00000132"	"90"	"3281"	"0"	"3281"	"0"	"c.3281T>C"	"r.3281u>c"	"p.Ile1094Thr"	"22"
"0000922321"	"00000132"	"90"	"1926"	"0"	"1926"	"0"	"c.1926G>C"	"r.1926c>g"	"p.Met642Ile"	"12"
"0000922322"	"00000132"	"90"	"3281"	"0"	"3281"	"0"	"c.3281T>C"	"r.3281u>c"	"p.Ile1094Thr"	""
"0000922323"	"00000132"	"90"	"709"	"0"	"709"	"0"	"c.709C>T"	"r.709c>u"	"p.Pro237Ser"	"6"
"0000922324"	"00000132"	"90"	"346"	"0"	"346"	"0"	"c.346C>T"	"r.346c>u"	"p.Arg116*"	"4"
"0000922325"	"00000132"	"10"	"-22"	"0"	"-22"	"0"	"c.-22A>C"	"r.(?)"	"p.(=)"	"1"
"0000922326"	"00000132"	"10"	"387"	"0"	"387"	"0"	"c.387T>C"	"r.(?)"	"p.(Tyr129=)"	"4"
"0000922327"	"00000132"	"10"	"540"	"0"	"540"	"0"	"c.540C>T"	"r.(?)"	"p.(Asp180=)"	"5"
"0000922328"	"00000132"	"10"	"612"	"0"	"612"	"0"	"c.612C>T"	"r.(?)"	"p.(Thr204=)"	"5"
"0000922329"	"00000132"	"10"	"632"	"-36"	"632"	"-36"	"c.632-36G>A"	"r.(?)"	"p.(=)"	"5i"
"0000922330"	"00000132"	"10"	"644"	"0"	"644"	"0"	"c.644A>G"	"r.(?)"	"p.(His215Arg)"	"6"
"0000922331"	"00000132"	"10"	"665"	"0"	"665"	"0"	"c.665A>G"	"r.(?)"	"p.(Asn222Ser)"	""
"0000922332"	"00000132"	"10"	"709"	"0"	"709"	"0"	"c.709C>T"	"r.(?)"	"p.(Pro237Ser)"	"6"
"0000922333"	"00000132"	"10"	"966"	"0"	"966"	"0"	"c.966C>T"	"r.(?)"	"p.(Ser322=)"	"8"
"0000922334"	"00000132"	"10"	"1300"	"0"	"1300"	"0"	"c.1300C>T"	"r.(?)"	"p.(Pro434Ser)"	"8"
"0000922335"	"00000132"	"10"	"1503"	"0"	"1503"	"0"	"c.1503C>T"	"r.(?)"	"p.(Asp501=)"	"9"
"0000922336"	"00000132"	"10"	"1553"	"19"	"1553"	"19"	"c.1553+19T>G"	"r.(?)"	"p.(=)"	"9i"
"0000922337"	"00000132"	"10"	"1654"	"58"	"1654"	"58"	"c.1654+58T>C"	"r.(?)"	"p.(=)"	"10i"
"0000922338"	"00000132"	"10"	"1757"	"60"	"1757"	"60"	"c.1757+60G>A"	"r.(?)"	"p.(=)"	"11i"
"0000922339"	"00000132"	"10"	"1926"	"0"	"1926"	"0"	"c.1926G>C"	"r.(?)"	"p.(Met642Ile)"	"12"
"0000922340"	"00000132"	"10"	"1947"	"16"	"1947"	"16"	"c.1947+16dup"	"r.(?)"	"p.(=)"	"12i"
"0000922341"	"00000132"	"10"	"1947"	"15"	"1947"	"16"	"c.1947+15_1947+16dup"	"r.(?)"	"p.(=)"	"12i"
"0000922342"	"00000132"	"10"	"1947"	"14"	"1947"	"16"	"c.1947+14_1947+16dup"	"r.(?)"	"p.(=)"	"12i"
"0000922343"	"00000132"	"10"	"1947"	"13"	"1947"	"16"	"c.1947+13_1947+16dup"	"r.(?)"	"p.(=)"	"12i"
"0000922344"	"00000132"	"10"	"1947"	"12"	"1947"	"16"	"c.1947+12_1947+16dup"	"r.(?)"	"p.(=)"	"12i"
"0000922345"	"00000132"	"10"	"2073"	"0"	"2073"	"0"	"c.2073G>A"	"r.(?)"	"p.(Pro691=)"	"13"
"0000922346"	"00000132"	"10"	"2131"	"-4"	"2131"	"-4"	"c.2131-4del"	"r.(?)"	"p.(=)"	"13i"
"0000922347"	"00000132"	"10"	"2572"	"0"	"2572"	"0"	"c.2572A>G"	"r.(?)"	"p.(Ile858Val)"	"17"
"0000922348"	"00000132"	"10"	"2604"	"30"	"2604"	"30"	"c.2604+30del"	"r.(?)"	"p.(=)"	"17i"
"0000922349"	"00000132"	"10"	"2793"	"0"	"2793"	"0"	"c.2793C>T"	"r.(?)"	"p.(Asn931=)"	"18"
"0000922350"	"00000132"	"10"	"2820"	"0"	"2820"	"0"	"c.2820G>A"	"r.(?)"	"p.(Ser940=)"	"19"
"0000922351"	"00000132"	"10"	"2911"	"28"	"2911"	"28"	"c.2911+28T>C"	"r.(?)"	"p.(=)"	"19i"
"0000922352"	"00000132"	"10"	"3042"	"-24"	"3042"	"-24"	"c.3042-24T>C"	"r.(?)"	"p.(=)"	"20i"
"0000922353"	"00000132"	"10"	"3217"	"0"	"3217"	"0"	"c.3217G>A"	"r.(?)"	"p.(Gly1073Ser)"	"21"
"0000922354"	"00000132"	"10"	"3246"	"-46"	"3246"	"-46"	"c.3246-46C>T"	"r.(?)"	"p.(=)"	"21i"
"0000922355"	"00000132"	"10"	"3592"	"-42"	"3592"	"-42"	"c.3592-42G>C"	"r.(?)"	"p.(=)"	"23i"
"0000922356"	"00000132"	"10"	"3754"	"34"	"3754"	"34"	"c.3754+34A>G"	"r.(?)"	"p.(=)"	"24i"
"0000922357"	"00000132"	"10"	"3797"	"0"	"3797"	"0"	"c.3797G>A"	"r.(?)"	"p.(Arg1266Gln)"	"25"
"0000922358"	"00000132"	"10"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.(=)"	"25i"
"0000922359"	"00000132"	"10"	"644"	"0"	"644"	"0"	"c.644A>G"	"r.(?)"	"p.(His215Arg)"	"6"
"0000922360"	"00000132"	"10"	"882"	"-47"	"882"	"-47"	"c.882-47A>C"	"r.(?)"	"p.(=)"	"6i"
"0000922361"	"00000132"	"10"	"998"	"0"	"998"	"0"	"c.998G>A"	"r.(?)"	"p.(Gly333Asp)"	""
"0000922362"	"00000132"	"10"	"1415"	"0"	"1415"	"0"	"c.1415T>C"	"r.(?)"	"p.(Leu472Pro)"	""
"0000922363"	"00000132"	"10"	"1654"	"240"	"1654"	"240"	"c.1654+240A>G"	"r.(?)"	"p.(=)"	"10i"
"0000922364"	"00000132"	"10"	"1755"	"0"	"1755"	"0"	"c.1755A>G"	"r.(?)"	"p.(Lys585=)"	""
"0000922365"	"00000132"	"10"	"1757"	"100"	"1757"	"100"	"c.1757+100G>A"	"r.(?)"	"p.(=)"	"11i"
"0000922366"	"00000132"	"10"	"1758"	"-178"	"1758"	"-178"	"c.1758-178A>G"	"r.(?)"	"p.(=)"	"11i"
"0000922367"	"00000132"	"10"	"1758"	"-22"	"1758"	"-22"	"c.1758-22T>C"	"r.(?)"	"p.(=)"	"11i"
"0000922368"	"00000132"	"10"	"1926"	"0"	"1926"	"0"	"c.1926G>C"	"r.(?)"	"p.(Met642Ile)"	"12"
"0000922369"	"00000132"	"10"	"2131"	"-184"	"2131"	"-184"	"c.2131-184G>A"	"r.(?)"	"p.(=)"	"13i"
"0000922370"	"00000132"	"10"	"2131"	"-205"	"2131"	"-205"	"c.2131-205T>A"	"r.(?)"	"p.(=)"	"13i"
"0000922371"	"00000132"	"10"	"2131"	"-342"	"2131"	"-342"	"c.2131-342A>G"	"r.(?)"	"p.(=)"	"13i"
"0000922372"	"00000132"	"10"	"2131"	"-4"	"2131"	"-4"	"c.2131-4del"	"r.(?)"	"p.(=)"	"13i"
"0000922373"	"00000132"	"10"	"2131"	"-5"	"2131"	"-4"	"c.2131-5_2131-4del"	"r.(?)"	"p.(=)"	"13i"
"0000922374"	"00000132"	"10"	"2226"	"0"	"2226"	"0"	"c.2226G>A"	"r.(?)"	"p.(Glu742=)"	""
"0000922375"	"00000132"	"10"	"2245"	"121"	"2245"	"122"	"c.2245+121_2245+122del"	"r.(?)"	"p.(=)"	"14i"
"0000922376"	"00000132"	"10"	"2245"	"95"	"2245"	"95"	"c.2245+95del"	"r.(?)"	"p.(=)"	"14i"
"0000922377"	"00000132"	"10"	"2246"	"-24"	"2246"	"-24"	"c.2246-24G>A"	"r.(?)"	"p.(=)"	"14i"
"0000922378"	"00000132"	"10"	"2270"	"0"	"2270"	"0"	"c.2270T>C"	"r.(?)"	"p.(Val757Ala)"	""
"0000922379"	"00000132"	"10"	"2514"	"163"	"2514"	"163"	"c.2514+163C>T"	"r.(?)"	"p.(=)"	"16i"
"0000922380"	"00000132"	"10"	"2572"	"0"	"2572"	"0"	"c.2572A>G"	"r.(?)"	"p.(Ile858Val)"	"17"
"0000922381"	"00000132"	"10"	"2604"	"28"	"2604"	"30"	"c.2604+28_2604+30del"	"r.(?)"	"p.(=)"	"17i"
"0000922382"	"00000132"	"10"	"2604"	"30"	"2604"	"30"	"c.2604+30del"	"r.(?)"	"p.(=)"	"17i"
"0000922383"	"00000132"	"10"	"2605"	"-69"	"2605"	"-69"	"c.2605-69A>G"	"r.(?)"	"p.(=)"	"17i"
"0000922384"	"00000132"	"10"	"2793"	"0"	"2793"	"0"	"c.2793C>T"	"r.(?)"	"p.(Asn931=)"	"18"
"0000922385"	"00000132"	"10"	"2911"	"28"	"2911"	"28"	"c.2911+28T>C"	"r.(?)"	"p.(=)"	"19i"
"0000922386"	"00000132"	"10"	"3042"	"-158"	"3042"	"-158"	"c.3042-158T>C"	"r.(?)"	"p.(=)"	"20i"
"0000922387"	"00000132"	"10"	"3246"	"-280"	"3246"	"-280"	"c.3246-280G>A"	"r.(?)"	"p.(=)"	"21i"
"0000922388"	"00000132"	"10"	"3246"	"-306"	"3246"	"-306"	"c.3246-306del"	"r.(?)"	"p.(=)"	"21i"
"0000922389"	"00000132"	"10"	"3659"	"0"	"3659"	"0"	"c.3659T>C"	"r.(?)"	"p.(Ile1220Thr)"	""
"0000922390"	"00000132"	"10"	"3754"	"75"	"3754"	"75"	"c.3754+75T>A"	"r.(?)"	"p.(=)"	"24i"
"0000922391"	"00000132"	"10"	"3755"	"-123"	"3755"	"-123"	"c.3755-123C>T"	"r.(?)"	"p.(=)"	"24i"
"0000922392"	"00000132"	"10"	"3755"	"-75"	"3755"	"-75"	"c.3755-75G>A"	"r.(?)"	"p.(=)"	"24i"
"0000922393"	"00000132"	"10"	"3755"	"-89"	"3755"	"-89"	"c.3755-89A>G"	"r.(?)"	"p.(=)"	"24i"
"0000922717"	"00000132"	"70"	"2010"	"0"	"2010"	"0"	"c.2010C>G"	"r.(?)"	"p.(Cys670Trp)"	""
"0000922718"	"00000132"	"70"	"2474"	"0"	"2474"	"0"	"c.2474A>G"	"r.(?)"	"p.(Tyr825Cys)"	""
"0000922719"	"00000132"	"70"	"3019"	"0"	"3019"	"0"	"c.3019C>G"	"r.(?)"	"p.(Pro1007Ala)"	""
"0000922720"	"00000132"	"70"	"3019"	"0"	"3019"	"0"	"c.3019C>G"	"r.(?)"	"p.(Pro1007Ala)"	""
"0000922721"	"00000132"	"70"	"1535"	"0"	"1535"	"0"	"c.1535A>G"	"r.(?)"	"p.(His512Arg)"	""
"0000922722"	"00000132"	"70"	"2621"	"0"	"2621"	"0"	"c.2621A>T"	"r.(?)"	"p.(Asp874Val)"	""
"0000922723"	"00000132"	"70"	"2873"	"0"	"2873"	"0"	"c.2873G>T"	"r.(?)"	"p.(Arg958Leu)"	""
"0000922724"	"00000132"	"70"	"1819"	"0"	"1819"	"0"	"c.1819C>T"	"r.(?)"	"p.(Arg607Ter)"	""
"0000922725"	"00000132"	"70"	"2546"	"0"	"2546"	"0"	"c.2546G>T"	"r.(?)"	"p.(Ser849Ile)"	""
"0000922726"	"00000132"	"70"	"2861"	"0"	"2861"	"0"	"c.2861C>T"	"r.(?)"	"p.(Ser954Leu)"	""
"0000922727"	"00000132"	"70"	"3182"	"0"	"3182"	"0"	"c.3182T>G"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000922728"	"00000132"	"70"	"3019"	"0"	"3019"	"0"	"c.3019C>G"	"r.(?)"	"p.(Pro1007Ala)"	""
"0000922729"	"00000132"	"70"	"3019"	"0"	"3019"	"0"	"c.3019C>G"	"r.(?)"	"p.(Pro1007Ala)"	""
"0000922730"	"00000132"	"70"	"2842"	"0"	"2842"	"0"	"c.2842G>T"	"r.(?)"	"p.(Asp948Tyr)"	""
"0000922731"	"00000132"	"70"	"3095"	"0"	"3096"	"0"	"c.3095_3096del"	"r.(?)"	"p.(Arg1032SerfsTer18)"	""
"0000922732"	"00000132"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	"3i_12i_"
"0000922796"	"00000132"	"90"	"2324"	"0"	"2324"	"0"	"c.2324A>C"	"r.(?)"	"p.(Gln775Pro)"	""
"0000922797"	"00000132"	"90"	"3245"	"1"	"3245"	"1"	"c.3245+1dup"	"r.spl"	"p.?"	""
"0000922798"	"00000132"	"90"	"530"	"0"	"530"	"0"	"c.530G>A"	"r.(?)"	"p.(Cys177Tyr)"	""
"0000922799"	"00000132"	"90"	"2819"	"0"	"2819"	"0"	"c.2819G>T"	"r.(?)"	"p.(Trp942Cys)"	""
"0000922800"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000922801"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000922802"	"00000132"	"90"	"896"	"0"	"896"	"0"	"c.896dup"	"r.(?)"	"p.(Ser300LeufsTer8)"	""
"0000922803"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000922804"	"00000132"	"90"	"2324"	"0"	"2324"	"0"	"c.2324A>C"	"r.(?)"	"p.(Gln775Pro)"	""
"0000922805"	"00000132"	"90"	"3104"	"0"	"3104"	"0"	"c.3104C>T"	"r.(?)"	"p.(Ala1035Val)"	""
"0000922806"	"00000132"	"90"	"2594"	"0"	"2594"	"0"	"c.2594C>T"	"r.(?)"	"p.(Ser865Leu)"	""
"0000922807"	"00000132"	"90"	"2324"	"0"	"2324"	"0"	"c.2324A>C"	"r.(?)"	"p.(Gln775Pro)"	""
"0000922808"	"00000132"	"90"	"1673"	"0"	"1674"	"0"	"c.1673_1674insG"	"r.(?)"	"p.(Thr559HisfsTer11)"	""
"0000922809"	"00000132"	"90"	"530"	"0"	"530"	"0"	"c.530G>A"	"r.(?)"	"p.(Cys177Tyr)"	""
"0000922810"	"00000132"	"90"	"1114"	"0"	"1114"	"0"	"c.1114C>T"	"r.(?)"	"p.(Arg372Trp)"	""
"0000922811"	"00000132"	"90"	"2978"	"0"	"2978"	"0"	"c.2978del"	"r.(?)"	"p.(Gly993GlufsTer4)"	""
"0000922812"	"00000132"	"90"	"530"	"0"	"530"	"0"	"c.530G>A"	"r.(?)"	"p.(Cys177Tyr)"	""
"0000922813"	"00000132"	"90"	"2179"	"0"	"2179"	"0"	"c.2179G>T"	"r.(?)"	"p.(Val727Phe)"	""
"0000922814"	"00000132"	"90"	"2978"	"0"	"2978"	"0"	"c.2978del"	"r.(?)"	"p.(Gly993GlufsTer4)"	""
"0000922815"	"00000132"	"90"	"1274"	"0"	"1274"	"0"	"c.1274C>A"	"r.(?)"	"p.(Ser425Ter)"	""
"0000922816"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000922817"	"00000132"	"90"	"3019"	"0"	"3019"	"0"	"c.3019C>G"	"r.(?)"	"p.(Pro1007Ala)"	""
"0000922818"	"00000132"	"90"	"1301"	"0"	"1301"	"0"	"c.1301C>T"	"r.(?)"	"p.(Pro434Leu)"	""
"0000922819"	"00000132"	"90"	"955"	"1"	"955"	"1"	"c.955+1G>A"	"r.spl"	"p.?"	""
"0000922820"	"00000132"	"90"	"1274"	"0"	"1274"	"0"	"c.1274C>A"	"r.(?)"	"p.(Ser425Ter)"	""
"0000922821"	"00000132"	"90"	"2830"	"0"	"2830"	"0"	"c.2830G>A"	"r.(?)"	"p.(Asp944Asn)"	""
"0000922822"	"00000132"	"90"	"346"	"0"	"346"	"0"	"c.346C>T"	"r.(?)"	"p.(Arg116Ter)"	""
"0000922823"	"00000132"	"90"	"1436"	"0"	"1436"	"0"	"c.1436G>A"	"r.(?)"	"p.(Cys479Tyr)"	""
"0000922824"	"00000132"	"90"	"3019"	"0"	"3019"	"0"	"c.3019C>G"	"r.(?)"	"p.(Pro1007Ala)"	""
"0000922825"	"00000132"	"90"	"2776"	"0"	"2776"	"0"	"c.2776G>A"	"r.(?)"	"p.(Ala926Thr)"	""
"0000922826"	"00000132"	"90"	"2336"	"0"	"2336"	"0"	"c.2336dup"	"r.(?)"	"p.(Val780ArgfsTer9)"	""
"0000922827"	"00000132"	"90"	"530"	"0"	"530"	"0"	"c.530G>A"	"r.(?)"	"p.(Cys177Tyr)"	""
"0000922828"	"00000132"	"90"	"530"	"0"	"530"	"0"	"c.530G>A"	"r.(?)"	"p.(Cys177Tyr)"	""
"0000922829"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000922830"	"00000132"	"90"	"3175"	"0"	"3175"	"0"	"c.3175C>T"	"r.(?)"	"p.(Arg1059Ter)"	""
"0000922831"	"00000132"	"90"	"2882"	"0"	"2897"	"0"	"c.2882_2897delinsG"	"r.(?)"	"p.(Asn961_Phe966delinsSer)"	""
"0000922832"	"00000132"	"90"	"1727"	"0"	"1727"	"0"	"c.1727A>G"	"r.(?)"	"p.(Lys576Arg)"	""
"0000922833"	"00000132"	"90"	"3754"	"0"	"3754"	"0"	"c.3754G>M"	"r.(?)"	"p.(Gly1252Arg)"	""
"0000922834"	"00000132"	"90"	"2978"	"0"	"2978"	"0"	"c.2978del"	"r.(?)"	"p.(Gly993GlufsTer4)"	""
"0000922835"	"00000132"	"90"	"1935"	"0"	"1935"	"0"	"c.1935T>A"	"r.(?)"	"p.(Cys645Ter)"	""
"0000922836"	"00000132"	"90"	"3467"	"0"	"3467"	"0"	"c.3467A>T"	"r.(?)"	"p.(Asn1156Ile)"	""
"0000922837"	"00000132"	"90"	"2882"	"0"	"2897"	"0"	"c.2882_2897delinsG"	"r.(?)"	"p.(Asn961_Phe966delinsSer)"	""
"0000922838"	"00000132"	"90"	"3467"	"0"	"3467"	"0"	"c.3467A>G"	"r.(?)"	"p.(Asn1156Ser)"	""
"0000922839"	"00000132"	"90"	"3175"	"0"	"3175"	"0"	"c.3175C>T"	"r.(?)"	"p.(Arg1059Ter)"	""
"0000922840"	"00000132"	"90"	"3672"	"0"	"3672"	"0"	"c.3672C>G"	"r.(?)"	"p.(Phe1224Leu)"	""
"0000922841"	"00000132"	"90"	"3107"	"0"	"3107"	"0"	"c.3107C>A"	"r.(?)"	"p.(Thr1036Lys)"	""
"0000922842"	"00000132"	"90"	"2876"	"0"	"2876"	"0"	"c.2876T>A"	"r.(?)"	"p.(Val959Glu)"	""
"0000922843"	"00000132"	"90"	"3104"	"0"	"3104"	"0"	"c.3104C>T"	"r.(?)"	"p.(Ala1035Val)"	""
"0000922844"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000922845"	"00000132"	"90"	"780"	"0"	"780"	"0"	"c.780G>A"	"r.(?)"	"p.(Trp260Ter)"	""
"0000922846"	"00000132"	"90"	"3175"	"0"	"3175"	"0"	"c.3175C>T"	"r.(?)"	"p.(Arg1059Ter)"	""
"0000922847"	"00000132"	"90"	"2261"	"0"	"2261"	"0"	"c.2261T>A"	"r.(?)"	"p.(Met754Lys)"	""
"0000922848"	"00000132"	"90"	"2826"	"0"	"2826"	"0"	"c.2826G>T"	"r.(?)"	"p.(Trp942Cys)"	""
"0000922849"	"00000132"	"90"	"1421"	"0"	"1421"	"0"	"c.1421C>T"	"r.(?)"	"p.(Pro474Leu)"	""
"0000922850"	"00000132"	"90"	"3019"	"0"	"3019"	"0"	"c.3019C>G"	"r.(?)"	"p.(Pro1007Ala)"	""
"0000922851"	"00000132"	"90"	"2324"	"0"	"2324"	"0"	"c.2324A>C"	"r.(?)"	"p.(Gln775Pro)"	""
"0000922852"	"00000132"	"90"	"3197"	"0"	"3197"	"0"	"c.3197C>A"	"r.(?)"	"p.(Thr1066Asn)"	""
"0000922853"	"00000132"	"90"	"2842"	"0"	"2842"	"0"	"c.2842G>C"	"r.(?)"	"p.(Asp948His)"	""
"0000922854"	"00000132"	"90"	"3019"	"0"	"3019"	"0"	"c.3019C>G"	"r.(?)"	"p.(Pro1007Ala)"	""
"0000922855"	"00000132"	"90"	"1990"	"0"	"1990"	"0"	"c.1990G>A"	"r.(?)"	"p.(Val664Met)"	""
"0000922856"	"00000132"	"90"	"1990"	"0"	"1990"	"0"	"c.1990G>A"	"r.(?)"	"p.(Val664Met)"	""
"0000922857"	"00000132"	"90"	"410"	"0"	"410"	"0"	"c.410C>T"	"r.(?)"	"p.(Thr137Met)"	""
"0000922858"	"00000132"	"90"	"3662"	"0"	"3662"	"0"	"c.3662del"	"r.(?)"	"p.(Phe1221SerfsTer21)"	""
"0000922859"	"00000132"	"10"	"644"	"0"	"644"	"0"	"c.644A>G"	"r.(?)"	"p.(His215Arg)"	""
"0000922860"	"00000132"	"10"	"1926"	"0"	"1926"	"0"	"c.1926G>C"	"r.(?)"	"p.(Met642Ile)"	""
"0000922861"	"00000132"	"10"	"2572"	"0"	"2572"	"0"	"c.2572A>G"	"r.(?)"	"p.(Ile858Val)"	""
"0000922862"	"00000132"	"10"	"1926"	"0"	"1926"	"0"	"c.1926G>C"	"r.(?)"	"p.(Met642Ile)"	""
"0000922863"	"00000132"	"10"	"387"	"0"	"387"	"0"	"c.387T>C"	"r.(?)"	"p.(Tyr129=)"	""
"0000922864"	"00000132"	"10"	"1926"	"0"	"1926"	"0"	"c.1926G>C"	"r.(?)"	"p.(Met642Ile)"	""
"0000922865"	"00000132"	"10"	"1926"	"0"	"1926"	"0"	"c.1926G>C"	"r.(?)"	"p.(Met642Ile)"	""
"0000922866"	"00000132"	"10"	"644"	"0"	"644"	"0"	"c.644A>G"	"r.(?)"	"p.(His215Arg)"	""
"0000922867"	"00000132"	"10"	"644"	"0"	"644"	"0"	"c.644A>G"	"r.(?)"	"p.(His215Arg)"	""
"0000922868"	"00000132"	"10"	"1926"	"0"	"1926"	"0"	"c.1926G>C"	"r.(?)"	"p.(Met642Ile)"	""
"0000922869"	"00000132"	"10"	"1926"	"0"	"1926"	"0"	"c.1926G>C"	"r.(?)"	"p.(Met642Ile)"	""
"0000922870"	"00000132"	"10"	"1926"	"0"	"1926"	"0"	"c.1926G>C"	"r.(?)"	"p.(Met642Ile)"	""
"0000922871"	"00000132"	"10"	"644"	"0"	"644"	"0"	"c.644A>G"	"r.(?)"	"p.(His215Arg)"	""
"0000922872"	"00000132"	"10"	"387"	"0"	"387"	"0"	"c.387T>C"	"r.(?)"	"p.(Tyr129=)"	""
"0000922873"	"00000132"	"10"	"1926"	"0"	"1926"	"0"	"c.1926G>C"	"r.(?)"	"p.(Met642Ile)"	""
"0000922874"	"00000132"	"10"	"644"	"0"	"644"	"0"	"c.644A>G"	"r.(?)"	"p.(His215Arg)"	""
"0000922875"	"00000132"	"10"	"2572"	"0"	"2572"	"0"	"c.2572A>G"	"r.(?)"	"p.(Ile858Val)"	""
"0000922876"	"00000132"	"10"	"644"	"0"	"644"	"0"	"c.644A>G"	"r.(?)"	"p.(His215Arg)"	""
"0000922877"	"00000132"	"10"	"1926"	"0"	"1926"	"0"	"c.1926G>C"	"r.(?)"	"p.(Met642Ile)"	""
"0000922878"	"00000132"	"10"	"644"	"0"	"644"	"0"	"c.644A>G"	"r.(?)"	"p.(His215Arg)"	""
"0000922879"	"00000132"	"10"	"1926"	"0"	"1926"	"0"	"c.1926G>C"	"r.(?)"	"p.(Met642Ile)"	""
"0000922880"	"00000132"	"10"	"1926"	"0"	"1926"	"0"	"c.1926G>C"	"r.(?)"	"p.(Met642Ile)"	""
"0000922881"	"00000132"	"10"	"3797"	"0"	"3797"	"0"	"c.3797G>A"	"r.(?)"	"p.(Arg1266Gln)"	""
"0000922882"	"00000132"	"10"	"1926"	"0"	"1926"	"0"	"c.1926G>C"	"r.(?)"	"p.(Met642Ile)"	""
"0000922883"	"00000132"	"10"	"644"	"0"	"644"	"0"	"c.644A>G"	"r.(?)"	"p.(His215Arg)"	""
"0000922884"	"00000132"	"10"	"1926"	"0"	"1926"	"0"	"c.1926G>C"	"r.(?)"	"p.(Met642Ile)"	""
"0000922885"	"00000132"	"10"	"2572"	"0"	"2572"	"0"	"c.2572A>G"	"r.(?)"	"p.(Ile858Val)"	""
"0000922886"	"00000132"	"10"	"644"	"0"	"644"	"0"	"c.644A>G"	"r.(?)"	"p.(His215Arg)"	""
"0000922887"	"00000132"	"10"	"2572"	"0"	"2572"	"0"	"c.2572A>G"	"r.(?)"	"p.(Ile858Val)"	""
"0000922888"	"00000132"	"10"	"3561"	"0"	"3561"	"0"	"c.3561G>T"	"r.(?)"	"p.(Ala1187=)"	""
"0000922889"	"00000132"	"10"	"1686"	"0"	"1686"	"0"	"c.1686G>A"	"r.(?)"	"p.(Val562=)"	""
"0000922890"	"00000132"	"10"	"1740"	"0"	"1740"	"0"	"c.1740C>G"	"r.(?)"	"p.(Ala580=)"	""
"0000926702"	"00000132"	"50"	"3047"	"0"	"3047"	"0"	"c.3047A>G"	"r.(?)"	"p.(His1016Arg)"	""
"0000926703"	"00000132"	"90"	"346"	"0"	"346"	"0"	"c.346C>T"	"r.(?)"	"p.(Arg116*)"	""
"0000951092"	"00000132"	"50"	"4354"	"0"	"4354"	"0"	"c.*517A>C"	"r.(=)"	"p.(=)"	""
"0000951093"	"00000132"	"30"	"2514"	"6"	"2514"	"6"	"c.2514+6C>T"	"r.(=)"	"p.(=)"	""
"0000951094"	"00000132"	"10"	"1300"	"0"	"1300"	"0"	"c.1300C>T"	"r.(?)"	"p.(Pro434Ser)"	""
"0000953831"	"00000132"	"70"	"2801"	"0"	"2801"	"0"	"c.2801G>A"	"r.(?)"	"p.(Arg934Gln)"	""
"0000953833"	"00000132"	"70"	"2873"	"0"	"2873"	"0"	"c.2873G>A"	"r.(?)"	"p.(Arg958Gln)"	""
"0000969330"	"00000132"	"90"	"3182"	"0"	"3182"	"0"	"c.3182T>C"	"r.(?)"	"p.(Ile1061Thr)"	""
"0000982974"	"00000132"	"30"	"3561"	"0"	"3561"	"0"	"c.3561G>T"	"r.(?)"	"p.(Ala1187=)"	""
"0000982975"	"00000132"	"50"	"3130"	"0"	"3130"	"0"	"c.3130G>A"	"r.(?)"	"p.(Val1044Met)"	""
"0000982976"	"00000132"	"50"	"2126"	"0"	"2126"	"0"	"c.2126A>T"	"r.(?)"	"p.(Tyr709Phe)"	""
"0000982977"	"00000132"	"70"	"2072"	"0"	"2072"	"0"	"c.2072C>T"	"r.(?)"	"p.(Pro691Leu)"	""
"0000982978"	"00000132"	"30"	"1947"	"9"	"1947"	"10"	"c.1947+9_1947+10insT"	"r.(=)"	"p.(=)"	""
"0000982979"	"00000132"	"50"	"1165"	"0"	"1165"	"0"	"c.1165C>T"	"r.(?)"	"p.(Arg389Cys)"	""
"0000982980"	"00000132"	"90"	"616"	"0"	"619"	"0"	"c.616_619del"	"r.(?)"	"p.(Thr206Leufs*14)"	""
"0000982981"	"00000132"	"90"	"506"	"0"	"506"	"0"	"c.506A>T"	"r.(?)"	"p.(Asn169Ile)"	""
"0000982982"	"00000132"	"30"	"464"	"-4"	"464"	"-4"	"c.464-4C>G"	"r.spl?"	"p.?"	""
"0000982983"	"00000132"	"50"	"13"	"0"	"13"	"0"	"c.13G>T"	"r.(?)"	"p.(Gly5Cys)"	""
"0001003969"	"00000132"	"30"	"8142"	"0"	"8142"	"0"	"c.*4305G>A"	"r.(=)"	"p.(=)"	""
"0001003970"	"00000132"	"30"	"2973"	"0"	"2973"	"0"	"c.2973G>T"	"r.(?)"	"p.(Gln991His)"	""
"0001003971"	"00000132"	"30"	"1346"	"0"	"1346"	"0"	"c.1346C>T"	"r.(?)"	"p.(Ala449Val)"	""
"0001003972"	"00000132"	"50"	"494"	"0"	"494"	"0"	"c.494C>A"	"r.(?)"	"p.(Ala165Asp)"	""
"0001012447"	"00000132"	"30"	"665"	"0"	"665"	"0"	"c.665A>G"	"r.(?)"	"p.(Asn222Ser)"	""
"0001012450"	"00000132"	"50"	"2257"	"0"	"2257"	"0"	"c.2257G>A"	"r.(?)"	"p.(Val753Met)"	""
"0001012452"	"00000132"	"30"	"3535"	"0"	"3535"	"0"	"c.3535A>G"	"r.(?)"	"p.(Met1179Val)"	""
"0001018803"	"00000132"	"70"	"1100"	"0"	"1105"	"0"	"c.1100_1105del"	"r.(?)"	"p.(Gly367_Leu368del)"	""
"0001027090"	"00000132"	"30"	"2131"	"-5"	"2131"	"-4"	"c.2131-5_2131-4del"	"r.spl?"	"p.?"	""
"0001027091"	"00000132"	"30"	"2131"	"-4"	"2131"	"-4"	"c.2131-4del"	"r.spl?"	"p.?"	""
"0001042366"	"00000132"	"90"	"3742"	"0"	"3745"	"0"	"c.3742_3745del"	"r.(?)"	"p.(Leu1248Valfs*3)"	""
"0001042367"	"00000132"	"50"	"3548"	"0"	"3548"	"0"	"c.3548G>A"	"r.(?)"	"p.(Arg1183His)"	""
"0001042368"	"00000132"	"90"	"3451"	"0"	"3451"	"0"	"c.3451G>A"	"r.(?)"	"p.(Ala1151Thr)"	""
"0001042369"	"00000132"	"50"	"3392"	"0"	"3392"	"0"	"c.3392T>C"	"r.(?)"	"p.(Ile1131Thr)"	""
"0001042370"	"00000132"	"70"	"3112"	"0"	"3112"	"0"	"c.3112T>G"	"r.(?)"	"p.(Phe1038Val)"	""
"0001042371"	"00000132"	"90"	"3011"	"0"	"3011"	"0"	"c.3011C>T"	"r.(?)"	"p.(Ser1004Leu)"	""
"0001042372"	"00000132"	"90"	"1211"	"0"	"1211"	"0"	"c.1211G>A"	"r.(?)"	"p.(Arg404Gln)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 486
"{{screeningid}}"	"{{variantid}}"
"0000000027"	"0000000680"
"0000000047"	"0000000678"
"0000000071"	"0000000679"
"0000073279"	"0000116904"
"0000073279"	"0000116905"
"0000073280"	"0000116906"
"0000073280"	"0000116907"
"0000133640"	"0000222886"
"0000133640"	"0000222887"
"0000133640"	"0000222888"
"0000133640"	"0000222889"
"0000133640"	"0000222890"
"0000133640"	"0000222891"
"0000149426"	"0000242775"
"0000165991"	"0000369839"
"0000166051"	"0000369914"
"0000166052"	"0000369916"
"0000182108"	"0000406021"
"0000209660"	"0000439864"
"0000293087"	"0000649776"
"0000293088"	"0000649777"
"0000293089"	"0000649778"
"0000293090"	"0000649779"
"0000293091"	"0000649780"
"0000307358"	"0000673984"
"0000307358"	"0000673985"
"0000308290"	"0000675236"
"0000308585"	"0000682986"
"0000308585"	"0000683005"
"0000316076"	"0000698202"
"0000362700"	"0000763070"
"0000362700"	"0000763071"
"0000375311"	"0000786652"
"0000375615"	"0000786966"
"0000375615"	"0000787508"
"0000375990"	"0000787341"
"0000433309"	"0000918953"
"0000433323"	"0000918970"
"0000433329"	"0000918976"
"0000435772"	"0000921975"
"0000435773"	"0000921976"
"0000435774"	"0000921977"
"0000435775"	"0000921978"
"0000435775"	"0000921983"
"0000435776"	"0000921979"
"0000435776"	"0000921984"
"0000435777"	"0000921980"
"0000435777"	"0000921985"
"0000435778"	"0000921981"
"0000435778"	"0000921986"
"0000435779"	"0000921982"
"0000435781"	"0000921988"
"0000435782"	"0000921989"
"0000435782"	"0000922034"
"0000435783"	"0000921990"
"0000435785"	"0000921992"
"0000435786"	"0000921993"
"0000435787"	"0000921994"
"0000435787"	"0000922033"
"0000435788"	"0000921995"
"0000435788"	"0000922032"
"0000435789"	"0000921996"
"0000435790"	"0000921997"
"0000435791"	"0000921998"
"0000435792"	"0000921999"
"0000435793"	"0000922000"
"0000435794"	"0000922001"
"0000435794"	"0000922049"
"0000435795"	"0000922002"
"0000435798"	"0000922005"
"0000435798"	"0000922035"
"0000435799"	"0000922006"
"0000435800"	"0000922007"
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