### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = GBA)
# 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}}"
"GBA"	"glucosidase, beta, acid"	"1"	"q22"	"unknown"	"NG_009783.1"	"UD_130789766266"	""	"https://www.LOVD.nl/GBA"	""	"1"	"4177"	"2629"	"606463"	"1"	"1"	"1"	"1"	"<b>A Parkinson\'s disease Mutation Database</b>\r\nThe establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement nº 200754 - the GEN2PHEN project."	""	"g"	"https://databases.lovd.nl/shared/refseq/GBA_codingDNA.html"	"1"	""	"<b>A Parkinson\'s disease Mutation Database</b>"	"-1"	""	"-1"	"00002"	"2011-04-05 00:00:00"	"00006"	"2020-09-18 14:04:58"	"00000"	"2025-07-08 13:22:38"


## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{geneid}}"	"{{name}}"	"{{id_mutalyzer}}"	"{{id_ncbi}}"	"{{id_ensembl}}"	"{{id_protein_ncbi}}"	"{{id_protein_ensembl}}"	"{{id_protein_uniprot}}"	"{{remarks}}"	"{{position_c_mrna_start}}"	"{{position_c_mrna_end}}"	"{{position_c_cds_end}}"	"{{position_g_mrna_start}}"	"{{position_g_mrna_end}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00000025"	"GBA"	"glucosidase, beta, acid, transcript variant 2"	"004"	"NM_000157.3"	""	"NP_001005741.1"	""	""	""	"-166"	"2158"	"1611"	"155211069"	"155204239"	"00002"	"2012-05-11 13:11:52"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 15
"{{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"	""	""
"00138"	"autism"	"autism"	""	"209850"	""	""	""	"00084"	"2013-06-04 18:17:33"	"00006"	"2015-12-08 23:54:35"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"00414"	"PD"	"Parkinson disease, susceptibility to"	"AD;AR;Mu"	"168600"	""	""	""	"00006"	"2014-06-15 21:26:13"	"00006"	"2023-10-27 16:16:06"
"00451"	"Gaucher, atypical"	"Gaucher disease, atypical"	""	"610539"	""	""	""	"00006"	"2014-07-09 21:21:23"	"00006"	"2021-06-30 08:23:02"
"01294"	"DLB"	"dementia, Lewy body"	"AD"	"127750"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"01806"	"GD1"	"Gaucher disease, type I"	"AR"	"230800"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2023-06-13 22:17:47"
"01807"	"GD2"	"Gaucher disease, type II"	"AR"	"230900"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2023-06-13 22:17:21"
"01808"	"GD3"	"Gaucher disease, type III"	"AR"	"231000"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2023-06-13 22:17:03"
"01809"	"GD3C"	"Gaucher disease, type IIIC"	"AR"	"231005"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2023-06-13 22:16:28"
"02728"	"GD, perinatal lethal"	"Gaucher disease, perinatal lethal"	"AR"	"608013"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2023-06-13 22:18:30"
"04147"	"MRT"	"mental retardation, autosomal recessive (MRT, intellectual disability (IDT))"	""	""	""	"autosomal recessive"	""	"00006"	"2014-10-11 12:21:35"	"00006"	"2018-12-18 09:25:11"
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"
"05378"	"BMD/DMD"	"dystrophinopathy (BMD or DMD)"	""	""	""	""	""	"00006"	"2018-01-13 20:18:25"	"00006"	"2019-03-26 16:49:54"
"07013"	"GD"	"Gaucher disease"	""	""	""	""	""	"00006"	"2023-06-13 22:25:23"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 8
"{{geneid}}"	"{{diseaseid}}"
"GBA"	"00414"
"GBA"	"01294"
"GBA"	"01806"
"GBA"	"01807"
"GBA"	"01808"
"GBA"	"01809"
"GBA"	"02728"
"GBA"	"07013"


## Individuals ## Do not remove or alter this header ##
## Count = 247
"{{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}}"
"00000012"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000023"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000048"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000058"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000059"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000060"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00080851"	""	""	""	"1"	""	"01758"	"{PMID:Trujillano 2017:27848944}"	"unaffected parents"	""	""	""	""	"0"	""	""	""	""
"00218928"	""	""	""	"1"	""	"00006"	"{PMID:Helbig 2017:28195318}"	"2-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives"	"F;M"	"no"	"United States"	""	"0"	""	""	"Jewish-Ashkenazi;Yemen"	"28195318-FamPat11/12"
"00289528"	""	""	""	"13"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00289529"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00289530"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00295439"	""	""	""	"2"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00295468"	""	""	""	"2"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00334906"	""	""	""	"1"	""	"03286"	"{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}"	""	"M"	"yes"	"Turkey"	""	"0"	""	""	""	"PME26"
"00414706"	""	""	""	"1"	""	"00000"	"{PMID:Bell 2011:21228398}"	""	"?"	""	""	""	"0"	""	""	""	"NA03575"
"00427056"	""	""	""	"1"	""	"00006"	"{PMID:Reiner 2022:36459106}"	"carrier screening 73,755 controls"	""	""	"United States"	""	"0"	""	""	""	""
"00427057"	""	""	""	"1"	""	"00006"	"{PMID:Reiner 2022:36459106}"	"carrier screening 73,755 controls"	""	""	"United States"	""	"0"	""	""	""	""
"00427058"	""	""	""	"1"	""	"00006"	"{PMID:Reiner 2022:36459106}"	"carrier screening 73,755 controls"	""	""	"United States"	""	"0"	""	""	""	""
"00435155"	""	""	""	"779"	""	"04507"	"{PMID:Sidransky 2009:19846850}"	""	""	""	""	""	""	""	""	"Ashkenazi Jews"	""
"00435156"	""	""	""	"1"	""	"04507"	"{PMID:Bossù 2023:37238417}"	""	"F"	"?"	"Italy"	""	"0"	""	"ERT with intravenous imiglucerase (Cerezyme)"	""	"patient"
"00435161"	""	""	""	"1"	""	"04507"	"{PMID:Moon 2022:36274270}"	""	"M"	"?"	"Korea, South (Republic)"	""	"0"	""	""	"Korea"	"patient"
"00435163"	""	""	""	"1"	""	"04507"	"{PMID:Cormand 1998:9554746}"	""	"?"	""	"Spain"	"00y08m15d"	"0"	""	""	""	"PatII.1"
"00435164"	""	""	""	"6"	""	"04507"	"{PMID:Cormand 1998:9554746}"	"Ages 27, 68, 4, 56, 58, 82"	""	""	"Spain"	""	""	""	""	""	""
"00435165"	""	""	""	"12"	""	"04507"	"{PMID:Cormand 1998:9554746}"	"Ages 32, 33, 29, 25, 19, 48, 31, 5, 24, 23, 60 and 3"	"?"	""	"Spain"	""	""	""	""	""	""
"00435166"	""	""	""	"3"	""	"04507"	"{PMID:Cormand 1998:9554746}"	"Ages 28, 42 and 13"	"?"	""	"Spain"	""	""	""	""	""	""
"00435167"	""	""	""	"1"	""	"04507"	"{PMID:Sarria 1999:10447266}"	""	""	""	"Spain"	""	"0"	""	""	""	"PatI.14"
"00435183"	""	""	""	"1682"	""	"04507"	"{PMID:Sidransky 2009:19846850}"	""	""	""	""	""	""	""	""	""	""
"00435184"	""	""	""	"2"	""	"04507"	"{PMID:Cormand 1998:9554746}"	"Ages 31 and 27"	""	""	"Spain"	""	""	""	""	""	""
"00435185"	""	""	""	"1"	""	"04507"	"{PMID:Cormand 1998:9554746}"	""	""	""	"Spain"	""	""	""	""	""	""
"00435186"	""	""	""	"1"	""	"04507"	"{PMID:Cormand 1998:9554746}"	""	""	""	"Spain"	""	""	""	""	""	""
"00435187"	""	""	""	"1"	""	"04507"	"{PMID:Cormand 1998:9554746}"	""	""	""	"Spain"	""	""	""	""	""	""
"00435188"	""	""	""	"1"	""	"04507"	"{PMID:Cormand 1998:9554746}"	""	""	""	"Spain"	""	""	""	""	""	""
"00435189"	""	""	""	"1"	""	"04507"	"{PMID:Cormand 1998:9554746}"	""	""	""	"Spain"	""	""	""	""	""	""
"00435190"	""	""	""	"1"	""	"04507"	"{PMID:Cormand 1998:9554746}"	""	""	""	"Spain"	""	""	""	""	""	""
"00435191"	""	""	""	"1"	""	"04507"	"{PMID:Cormand 1998:9554746}"	""	""	""	"Spain"	""	""	""	""	""	""
"00435193"	""	""	""	"1"	""	"04507"	"{PMID:Cormand 1998:9554746}"	"Affected brother (46y) with splenomegaly, hepatomegaly, thrombocytopenia, and pingueculae."	""	""	"Spain"	""	""	""	""	""	""
"00435194"	""	""	""	"1"	""	"04507"	"{PMID:Cormand 1998:9554746}"	""	""	""	"Spain"	""	""	""	""	""	""
"00435195"	""	""	""	"1"	""	"04507"	"{PMID:Cormand 1998:9554746}"	""	""	""	"Spain"	""	""	""	""	""	""
"00435196"	""	""	""	"1"	""	"04507"	"{PMID:Cormand 1998:9554746}"	""	""	""	"Spain"	""	""	""	""	""	""
"00435197"	""	""	""	"1"	""	"04507"	"{PMID:Cormand 1998:9554746}"	""	""	""	"Spain"	""	""	""	""	""	""
"00435198"	""	""	""	"1"	""	"04507"	"{PMID:Cormand 1998:9554746}"	""	""	""	"Spain"	""	""	""	""	""	""
"00435199"	""	""	""	"1"	""	"04507"	"{PMID:Cormand 1998:9554746}"	""	""	""	"Spain"	""	""	""	""	""	""
"00435200"	""	""	""	"1"	""	"04507"	"{PMID:Cormand 1998:9554746}"	"Affected sibling (23 y) with same symptoms plus bone disease."	""	""	"Spain"	""	""	""	""	""	""
"00435204"	""	""	""	"1"	""	"04507"	"{PMID:Cormand 1998:9554746}"	""	""	""	"Spain"	""	""	""	""	""	""
"00435205"	""	""	""	"1"	""	"04507"	"{PMID:Cormand 1998:9554746}"	""	""	""	"Spain"	""	""	""	""	""	""
"00435206"	""	""	""	"1"	""	"04507"	"{PMID:Cormand 1998:9554746}"	""	""	""	"Spain"	""	"0"	""	""	""	"PatI.22"
"00440091"	""	""	""	"1"	""	"00006"	"{PMID:Latham 1991:1899336}"	""	""	""	"United States"	""	"0"	""	""	"Hispanic"	"MSM45"
"00440092"	""	""	""	"1"	""	"00006"	"{PMID:Latham 1991:1899336}"	""	""	""	"United States"	""	"0"	""	""	"Italy;Ireland"	"MSM48"
"00440093"	""	""	""	"1"	""	"00006"	"{PMID:Latham 1991:1899336}"	""	""	""	"United States"	""	"0"	""	""	"Italy"	"MSM49"
"00440094"	""	""	""	"1"	""	"00006"	"{PMID:Latham 1991:1899336}"	""	""	""	"United States"	""	"0"	""	""	"Greece"	"MSM50"
"00440095"	""	""	""	"1"	""	"00006"	"{PMID:Latham 1991:1899336}"	""	""	""	"United States"	""	"0"	""	""	"jew-Sephardic;jew-Ashkenazi"	"MSM53"
"00440096"	""	""	""	"1"	""	"00006"	"{PMID:Latham 1991:1899336}"	""	""	""	"United States"	""	"0"	""	""	"white"	"MSM82"
"00440097"	""	""	""	"1"	""	"00006"	"{PMID:Latham 1991:1899336}"	""	""	""	"United States"	""	"0"	""	""	"white"	"MSM61"
"00440098"	""	""	""	"1"	""	"00006"	"{PMID:Uchiyama 1994:7981693}"	""	"F"	""	"Japan"	"00y00m01d"	"0"	""	""	""	"patient"
"00440099"	""	""	""	"1"	""	"00006"	"{PMID:Beutler 1993:8432537}"	""	""	""	"United States"	""	"0"	""	""	"white;Europe"	"Pat1"
"00440100"	""	""	""	"1"	""	"00006"	"{PMID:Beutler 1993:8432537}"	""	""	""	"United States"	""	"0"	""	""	"native American"	"Pat2"
"00440101"	""	""	""	"1"	""	"00006"	"{PMID:Beutler 1993:8432537}"	""	""	""	"United States"	""	"0"	""	""	"jew"	"Pat3"
"00440102"	""	""	""	"1"	""	"00006"	"{PMID:Beutler 1993:8432537}"	""	""	""	"United States"	""	"0"	""	""	"white;Europe"	"Pat4"
"00440103"	""	""	""	"1"	""	"00006"	"{PMID:Beutler 1993:8432537}"	""	""	""	"United States"	""	"0"	""	""	"white;Europe"	"Pat5"
"00440104"	""	""	""	"1"	""	"00006"	"{PMID:Beutler 1993:8432537}"	""	""	""	"United States"	""	"0"	""	""	"jew"	"Pat6"
"00440105"	""	""	""	"1"	""	"00006"	"{PMID:Beutler 1993:8432537}"	""	""	""	"United States"	""	"0"	""	""	"jew"	"Pat7"
"00440106"	""	""	""	"1"	""	"00006"	"{PMID:Beutler 1993:8432537}"	""	""	""	"United States"	""	"0"	""	""	"jew"	"Pat8"
"00440107"	""	""	""	"1"	""	"00006"	"{PMID:Beutler 1993:8432537}"	""	""	""	"United States"	""	"0"	""	""	"white;Europe"	"Pat9"
"00440110"	""	""	""	"1"	""	"00006"	"{PMID:Zimran 1990:2295698}"	""	"F"	""	"United States"	""	"0"	""	""	""	"PatDW"
"00440111"	""	""	""	"54"	""	"00006"	"{PMID:Beutler 1991:1961718}, {PMID:Beutler 1992:1558964}"	"analysis 71 cases with genotype GD; analysis 97 cases with genotype GD (54 cases with genotype)"	""	""	"United States"	""	"0"	""	""	"jew"	""
"00440112"	""	""	""	"25"	""	"00006"	"{PMID:Beutler 1991:1961718}, {PMID:Beutler 1992:1558964}"	"analysis 71 cases with genotype GD; analysis 97 cases with genotype GD (25 cases with genotype)"	""	""	"United States"	""	"0"	""	""	"jew"	""
"00440113"	""	""	""	"5"	""	"00006"	"{PMID:Beutler 1991:1961718}, {PMID:Beutler 1992:1558964}"	"analysis 71 cases with genotype GD; analysis 97 cases with genotype GD (5 cases with genotype)"	""	""	"United States"	""	"0"	""	""	"jew"	""
"00440114"	""	""	""	"4"	""	"00006"	"{PMID:Beutler 1991:1961718}, {PMID:Beutler 1992:1558964}"	"analysis 71 cases with genotype GD; analysis 97 cases with genotype GD (4 cases with genotype)"	""	""	"United States"	""	"0"	""	""	"jew"	""
"00440115"	""	""	""	"3"	""	"00006"	"{PMID:Beutler 1991:1961718}, {PMID:Beutler 1992:1558964}"	"analysis 71 cases with genotype GD; analysis 97 cases with genotype GD (3 cases with genotype)"	""	""	"United States"	""	"0"	""	""	"jew"	""
"00440116"	""	""	""	"1"	""	"00006"	"{PMID:Beutler 1991:1961718}, {PMID:Beutler 1992:1558964}"	"analysis 71 cases with genotype GD; analysis 97 cases with genotype GD (1 case with genotype)"	""	""	"United States"	""	"0"	""	""	"jew"	""
"00440117"	""	""	""	"1"	""	"00006"	"{PMID:Beutler 1991:1961718}, {PMID:Beutler 1992:1558964}"	"analysis 71 cases with genotype GD; analysis 97 cases with genotype GD (1 case with genotype)"	""	""	"United States"	""	"0"	""	""	"jew"	""
"00440118"	""	""	""	"1"	""	"00006"	"{PMID:Beutler 1991:1961718}, {PMID:Beutler 1992:1558964}"	"analysis 71 cases with genotype GD; analysis 97 cases with genotype GD (1 case with genotype)"	""	""	"United States"	""	"0"	""	""	"jew"	""
"00440119"	""	""	""	"1"	""	"00006"	"{PMID:Beutler 1991:1961718}, {PMID:Beutler 1992:1558964}"	"analysis 71 cases with genotype GD; analysis 97 cases with genotype GD (1 case with genotype)"	""	""	"United States"	""	"0"	""	""	"jew"	""
"00440120"	""	""	""	"2"	""	"00006"	"{PMID:Beutler 1991:1961718}, {PMID:Beutler 1992:1558964}"	"analysis 71 cases with genotype GD; analysis 97 cases with genotype GD (2 cases with genotype)"	""	""	"United States"	""	"0"	""	""	"jew"	""
"00440121"	""	""	""	"1"	""	"00006"	"{PMID:Kim 1996:8829654}"	""	"M"	""	"Korea"	""	"0"	""	""	""	"Pat1"
"00440122"	""	""	""	"1"	""	"00006"	"{PMID:Kim 1996:8829654}"	""	"M"	""	"Korea"	""	"0"	""	""	""	"Pat2"
"00440123"	""	""	""	"1"	""	"00006"	"{PMID:Kim 1996:8829654}"	""	"F"	""	"Korea"	""	"0"	""	""	""	"Pat3"
"00440124"	""	""	""	"1"	""	"00006"	"{PMID:Kim 1996:8829654}"	""	"M"	""	"Korea"	""	"0"	""	""	""	"Pat4"
"00440125"	""	""	""	"1"	""	"00006"	"{PMID:Kim 1996:8829654}"	""	"M"	""	"Korea"	""	"0"	""	""	""	"Pat5"
"00440126"	""	""	""	"2"	""	"00006"	"{PMID:Kim 1996:8829654}"	"family, 2 affected sibs"	"F"	""	"Taiwan"	""	"0"	""	""	"China"	"PatYC"
"00440127"	""	""	"00440126"	"1"	""	"00006"	"{PMID:Kim 1996:8829654}"	"relative"	"M"	""	"Taiwan"	""	"0"	""	""	"China"	"PatCC"
"00440128"	""	""	""	"1"	""	"00006"	"{PMID:Beutler 1995:7655857}"	""	""	""	""	""	"0"	""	""	"jew-Ashkenazi"	"Pat1"
"00440129"	""	""	""	"1"	""	"00006"	"{PMID:Beutler 1995:7655857}"	""	""	""	""	""	"0"	""	""	"Arab;Bedouin"	"Pat2"
"00440130"	""	""	""	"1"	""	"00006"	"{PMID:Beutler 1995:7655857}"	""	""	""	""	""	"0"	""	""	"Scotland;Wales"	"Pat3"
"00440131"	""	""	""	"1"	""	"00006"	"{PMID:Beutler 1995:7655857}"	""	""	""	""	""	"0"	""	""	"Scotland;Wales"	"Pat4"
"00440132"	""	""	""	"1"	""	"00006"	"{PMID:Beutler 1995:7655857}"	""	""	""	""	""	"0"	""	""	"jew-Ashkenazi"	"Pat5"
"00440133"	""	""	""	"1"	""	"00006"	"{PMID:Beutler 1995:7655857}"	""	""	""	""	""	"0"	""	""	"Afro-American"	"Pat6"
"00440134"	""	""	""	"2"	""	"00006"	"{PMID:Eyal 1991:1864608}"	"3-generation family, 2 affected"	"M"	""	"Israel"	""	"0"	""	""	""	"PatII2"
"00440135"	""	""	""	"1"	""	"00006"	"{PMID:Choy 1991:1776640}, {PMID:Choy 1995:7627192}"	""	""	""	"Canada"	""	"0"	""	""	"African-Amereican"	"Pat14;PatBD"
"00440136"	""	""	""	"1"	""	"00006"	"{PMID:Ida 1997:9061570}"	""	""	""	"Japan"	""	"0"	""	""	""	"Pat1"
"00440137"	""	""	""	"1"	""	"00006"	"{PMID:Ida 1997:9061570}"	""	""	""	"Japan"	""	"0"	""	""	""	"Pat2"
"00440138"	""	""	""	"1"	""	"00006"	"{PMID:Ida 1997:9061570}"	""	""	""	"Japan"	""	"0"	""	""	""	"Pat3"
"00440139"	""	""	""	"1"	""	"00006"	"{PMID:Ida 1997:9061570}"	""	""	""	"Japan"	""	"0"	""	""	""	"Pat4"
"00440140"	""	""	""	"1"	""	"00006"	"{PMID:Ida 1997:9061570}"	""	""	""	"Japan"	""	"0"	""	""	""	"Pat5"
"00440141"	""	""	""	"1"	""	"00006"	"{PMID:Ida 1997:9061570}"	""	""	""	"Japan"	""	"0"	""	""	""	"Pat6"
"00440142"	""	""	""	"37"	""	"00006"	"{PMID:Ida 1997:9061570}"	"analysis 47 cases Gaucher disease"	""	""	"Japan"	""	"0"	""	""	""	""
"00440143"	""	""	""	"14"	""	"00006"	"{PMID:Ida 1997:9061570}"	"analysis 47 cases Gaucher disease"	""	""	"Japan"	""	"0"	""	""	""	""
"00440144"	""	""	""	"5"	""	"00006"	"{PMID:Ida 1997:9061570}"	"analysis 47 cases Gaucher disease"	""	""	"Japan"	""	"0"	""	""	""	""
"00440145"	""	""	""	"3"	""	"00006"	"{PMID:Ida 1997:9061570}"	"analysis 47 cases Gaucher disease"	""	""	"Japan"	""	"0"	""	""	""	""
"00440146"	""	""	""	"3"	""	"00006"	"{PMID:Ida 1997:9061570}"	"analysis 47 cases Gaucher disease"	""	""	"Japan"	""	"0"	""	""	""	""
"00440147"	""	""	""	"1"	""	"00006"	"{PMID:Ida 1997:9061570}"	"analysis 47 cases Gaucher disease"	""	""	"Japan"	""	"0"	""	""	""	""
"00440148"	""	""	""	"1"	""	"00006"	"{PMID:Ida 1997:9061570}"	"analysis 47 cases Gaucher disease"	""	""	"Japan"	""	"0"	""	""	""	""
"00440149"	""	""	""	"1"	""	"00006"	"{PMID:Ida 1997:9061570}"	"analysis 47 cases Gaucher disease"	""	""	"Japan"	""	"0"	""	""	""	""
"00440150"	""	""	""	"1"	""	"00006"	"{PMID:Ida 1997:9061570}"	"analysis 47 cases Gaucher disease"	""	""	"Japan"	""	"0"	""	""	""	""
"00440151"	""	""	""	"1"	""	"00006"	"{PMID:Ida 1997:9061570}"	"analysis 47 cases Gaucher disease"	""	""	"Japan"	""	"0"	""	""	""	""
"00440152"	""	""	""	"1"	""	"00006"	"{PMID:Ida 1997:9061570}"	"analysis 47 cases Gaucher disease"	""	""	"Japan"	""	"0"	""	""	""	""
"00440153"	""	""	""	"1"	""	"00006"	"{PMID:Ida 1997:9061570}"	"analysis 47 cases Gaucher disease"	""	""	"Japan"	""	"0"	""	""	""	""
"00440154"	""	""	""	"1"	""	"00006"	"{PMID:Kawame 1991:1840477}"	""	"F"	""	"Japan"	""	"0"	""	""	""	"patient"
"00440155"	""	""	""	"1"	""	"00006"	"{PMID:Beutler 1990:1974409}"	""	""	""	"United States"	""	"0"	""	""	""	"patient"
"00440156"	""	""	""	"1"	""	"00006"	"{PMID:Walley 1995:8547070}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat1"
"00440157"	""	""	""	"1"	""	"00006"	"{PMID:Walley 1995:8547070}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Jew-Ashkenazi"	"Pat2"
"00440158"	""	""	""	"1"	""	"00006"	"{PMID:Walley 1995:8547070}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat3"
"00440159"	""	""	""	"2"	""	"00006"	"{PMID:He 1992:1301953}"	"2-generation family, affected brother/sister, unaffected non-carrier parents"	"M"	""	"United States"	""	"0"	""	""	""	"PatTH"
"00440160"	""	""	""	"1"	""	"00006"	"{PMID:He 1992:1301953}"	"2-generation family, 1 affected, unaffected parents"	"F"	""	"United States"	""	"0"	""	""	"England;Germany"	"PatAP"
"00440161"	""	""	""	"1"	""	"00006"	"{PMID:Eyal 1990:2269438}"	""	""	""	"Israel"	""	"0"	""	""	""	"GM2627"
"00440162"	""	""	""	"1"	""	"00006"	"{PMID:Eyal 1990:2269438}, {PMID:Hong 1990:1972019}"	""	""	""	"Israel"	""	"0"	""	""	""	"GM4394"
"00440163"	""	""	""	"1"	""	"00006"	"{PMID:Eyal 1990:2269438}"	""	""	""	"Israel"	""	"0"	""	""	""	"GM1607"
"00440164"	""	""	""	"1"	""	"00006"	"{PMID:Eyal 1990:2269438}"	""	""	""	"Israel"	""	"0"	""	""	""	"IS52"
"00440165"	""	""	""	"1"	""	"00006"	"{PMID:Beutler 1994:8112750}"	""	""	""	"United States"	""	"0"	""	""	""	"Pat1"
"00440166"	""	""	""	"1"	""	"00006"	"{PMID:Beutler 1994:8112750}"	""	""	""	"United States"	""	"0"	""	""	"jew"	"Pat2"
"00440167"	""	""	""	"1"	""	"00006"	"{PMID:Beutler 1994:8112750}"	""	""	""	"United States"	""	"0"	""	""	""	"Pat3"
"00440168"	""	""	""	"1"	""	"00006"	"{PMID:Beutler 1994:8112750}"	"aborted fetus"	""	""	"United States"	""	"0"	""	""	""	"Pat4"
"00440169"	""	""	""	"1"	""	"00006"	"{PMID:Kawame 1992:1487244}"	""	""	""	"Japan"	""	"0"	""	""	""	"Pat16"
"00440170"	""	""	""	"2"	""	"00006"	"{PMID:Tsuji 1988:3353383}"	"2-generation family, 2 affected brothers, unaffected heterozygous parents/relatives"	"M"	""	"United States"	""	"0"	""	""	"jew"	"patient"
"00440171"	""	""	""	"1"	""	"00006"	"{PMID:Laubscher 1994:8081401}"	""	""	""	"United States"	""	"0"	""	""	""	"PatSB"
"00440172"	""	""	""	"3"	""	"00006"	"{PMID:Walley 1993:8268935}"	"2-generation family, affected twins and terminated pregnancy, unaffected heterozygous parents"	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"family"
"00440173"	""	""	""	"1"	""	"00006"	"{PMID:Theophilus 1989:2508065}"	""	""	""	"United States"	""	"0"	""	""	"jew-Ashkenazi"	"Pat52"
"00440174"	""	""	""	"1"	""	"00006"	"{PMID:Theophilus 1989:2508065}"	""	""	""	"United States"	""	"0"	""	""	"Greece"	"Pat41"
"00440175"	""	""	""	"1"	""	"00006"	"{PMID:Theophilus 1989:2508065}"	""	""	""	"United States"	""	"0"	""	""	"SouthAfrican"	"Pat44"
"00440176"	""	""	""	"1"	""	"00006"	"{PMID:Theophilus 1989:2508065}"	""	""	""	"United States"	""	"0"	""	""	"white"	"Pat61"
"00440177"	""	""	""	"1"	""	"00006"	"{PMID:Theophilus 1989:2508065}, {PMID:Latham 1990:2349952}"	""	""	""	"United States"	""	"0"	""	""	"jew-Ashkenazi;Ireland"	"Pat74"
"00440178"	""	""	""	"1"	""	"00006"	"{PMID:Amaral 1996:8889591}"	""	"F"	""	"Portugal"	""	"0"	""	""	""	"Pat1"
"00440179"	""	""	""	"1"	""	"00006"	"{PMID:Amaral 1996:8889591}"	""	"M"	""	"Portugal"	""	"0"	""	""	""	"Pat2"
"00440180"	""	""	""	"1"	""	"00006"	"{PMID:Amaral 1996:8889591}"	""	"M"	""	"Portugal"	""	"0"	""	""	""	"Pat3"
"00440181"	""	""	""	"1"	""	"00006"	"{PMID:Seeman 1996:8780099}"	"2-generation family, 1 affected, unaffected heterozygous parents"	"M"	""	"Germany"	""	"0"	""	""	""	"patient"
"00440182"	""	""	""	"1"	""	"00006"	"{PMID:Wigderson 1989:2464926}"	""	""	""	""	""	"0"	""	""	""	"GM1260"
"00440183"	""	""	""	"1"	""	"00006"	"{PMID:Choy 1994:7915932}"	""	"F"	""	"Cambodia"	""	"0"	""	""	"France;Finland;Ukraine"	"patient"
"00440184"	""	""	""	"1"	""	"00006"	"{PMID:Tuteja 1994:8076951}"	""	""	""	"Italy"	""	"0"	""	""	"Sardinia"	"patient"
"00440185"	""	""	""	"1"	""	"00006"	"{PMID:Beutler 1992:1572652}"	""	"F"	""	"United States"	""	"0"	""	""	""	"PatMJ"
"00440186"	""	""	""	"1"	""	"00006"	"{PMID:Tsuji 1987:2880291}"	"2-generation family, 1 affected, unaffected heterozygous parents/relatives"	"M"	""	"United States"	""	"0"	""	""	""	"FamPatIII1"
"00440187"	""	""	""	"1"	""	"00006"	"{PMID:Tsuji 1987:2880291}"	""	""	""	"United States"	""	"0"	""	""	""	"patient"
"00440188"	""	""	""	"7"	""	"00006"	"{PMID:Tsuji 1987:2880291}"	"7 unrelated GD cases"	""	""	"United States"	""	"0"	""	""	""	"patient"
"00440189"	""	""	""	"4"	""	"00006"	"{PMID:Tsuji 1987:2880291}"	"4 unrelated GD cases"	""	""	"United States"	""	"0"	""	""	""	"patient"
"00440190"	""	""	""	"2"	""	"00006"	"{PMID:Tsuji 1987:2880291}"	"2 unrelated GD cases"	""	""	"United States"	""	"0"	""	""	""	""
"00440191"	""	""	""	"4"	""	"00006"	"{PMID:Tsuji 1987:2880291}"	"4 unrelated GD cases"	""	""	"United States"	""	"0"	""	""	""	""
"00440192"	""	""	""	"1"	""	"00006"	"{PMID:Hong 1990:1972019}"	""	""	""	"United States"	""	"0"	""	""	""	"PatPE"
"00440193"	""	""	""	"1"	""	"00006"	"{PMID:Ohshima 1993:7694727}"	""	""	""	"Japan"	""	"0"	""	""	""	"patient"
"00440195"	""	""	""	"1"	""	"00006"	"{PMID:Beutler 1994:7833951}"	"2-generation family, affected twin sisters, unaffected heterozygous parents"	"F"	""	"United States"	""	"0"	""	""	""	"twins"
"00440196"	""	""	""	"1"	""	"00006"	"{PMID:Latham 1990:2349952}"	""	""	""	"United States"	""	"0"	""	""	"Sweden"	"MSM79"
"00440197"	""	""	""	"1"	""	"00006"	"{PMID:Latham 1990:2349952}"	""	""	""	"United States"	""	"0"	""	""	"Sweden"	"MSM80"
"00440198"	""	""	""	"1"	""	"00006"	"{PMID:Latham 1990:2349952}"	""	""	""	"United States"	""	"0"	""	""	""	"GM877"
"00440200"	""	""	""	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	""	""	""	"Colombia"	""	"0"	""	""	"Hispanic"	"Pat1"
"00440201"	""	""	""	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	""	""	""	"Colombia"	""	"0"	""	""	"Hispanic"	"Pat2"
"00440202"	""	""	""	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	""	""	""	"Colombia"	""	"0"	""	""	"Europe;Mestizo"	"Pat3"
"00440203"	""	""	""	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	""	""	""	"Colombia"	""	"0"	""	""	"Hispanic"	"Pat4"
"00440204"	""	""	""	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	""	""	""	"Colombia"	""	"0"	""	""	"Hispanic"	"Pat5"
"00440205"	""	""	""	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	""	""	""	"Colombia"	""	"0"	""	""	"Mestizo"	"Pat6"
"00440206"	""	""	""	"2"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	"family, affected sister/brother"	""	""	"Colombia"	""	"0"	""	""	"Hispanic"	"Pat7"
"00440207"	""	""	"00440206"	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	"brother"	""	""	"Colombia"	""	"0"	""	""	"Hispanic"	"Pat8"
"00440208"	""	""	""	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	""	""	""	"Colombia"	""	"0"	""	""	"Mestizo"	"Pat9"
"00440209"	""	""	""	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	""	""	""	"Colombia"	""	"0"	""	""	"Mestizo;American"	"Pat10"
"00440210"	""	""	""	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	""	""	""	"Colombia"	""	"0"	""	""	"Hispanic"	"Pat11"
"00440211"	""	""	""	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	""	""	""	"Colombia"	""	"0"	""	""	"Hispanic"	"Pat12"
"00440212"	""	""	""	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	""	""	""	"Colombia"	""	"0"	""	""	"Hispanic"	"Pat13"
"00440213"	""	""	""	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	""	""	""	"Colombia"	""	"0"	""	""	"Hispanic"	"Pat14"
"00440214"	""	""	""	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	""	""	""	"Colombia"	""	"0"	""	""	"Hispanic"	"Pat15"
"00440215"	""	""	""	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	""	""	""	"Colombia"	""	"0"	""	""	"Hispanic"	"Pat16"
"00440216"	""	""	""	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	""	""	""	"Colombia"	""	"0"	""	""	""	"Pat17"
"00440217"	""	""	""	"2"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	"family, affected brother/sister"	"M"	""	"Colombia"	""	"0"	""	""	"Hispanic"	"Pat18"
"00440218"	""	""	"00440217"	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	"sister"	"F"	""	"Colombia"	""	"0"	""	""	"Hispanic"	"Pat19"
"00440219"	""	""	""	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	""	""	""	"Colombia"	""	"0"	""	""	"Hispanic"	"Pat20"
"00440220"	""	""	""	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	""	""	""	"Colombia"	""	"0"	""	""	"Hispanic"	"Pat21"
"00440221"	""	""	""	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	""	""	""	"Colombia"	""	"0"	""	""	"Hispanic"	"Pat22"
"00440222"	""	""	""	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	""	""	""	"Colombia"	""	"0"	""	""	"Hispanic"	"Pat23"
"00440223"	""	""	""	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	""	""	""	"Colombia"	""	"0"	""	""	"Hispanic"	"Pat24"
"00440224"	""	""	""	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	""	""	""	"Colombia"	""	"0"	""	""	"Hispanic"	"Pat25"
"00440225"	""	""	""	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	""	""	""	"Argentina"	""	"0"	""	""	"Paraguay;Spain"	"PatAl"
"00440226"	""	""	""	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	""	""	""	"Argentina"	""	"0"	""	""	"Spain;Italy"	"PatA4"
"00440227"	""	""	""	"2"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	"family, dizygotic twins"	""	""	"Argentina"	""	"0"	""	""	"Spain;Poland;Russia;jew-Ashkenazi"	"PatA5"
"00440228"	""	""	""	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	""	""	""	"Argentina"	""	"0"	""	""	"Spain"	"PatA9"
"00440229"	""	""	""	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	""	""	""	"Argentina"	""	"0"	""	""	"Mapuche"	"PatA10"
"00440230"	""	""	""	"3"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	"family, 3 affected sibs"	""	""	"Argentina"	""	"0"	""	""	""	"PatA11"
"00440231"	""	""	""	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	""	""	""	"Argentina"	""	"0"	""	""	"Italy"	"PatAl4"
"00440232"	""	""	""	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	""	""	""	"Argentina;Paraguay"	""	"0"	""	""	""	"PatA15"
"00440233"	""	""	""	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	""	""	""	"Argentina"	""	"0"	""	""	""	"PatAl6"
"00440234"	""	""	""	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	""	""	""	"Argentina"	""	"0"	""	""	""	"PatA17"
"00440235"	""	""	""	"2"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	"family, 2 affected sibs"	""	""	"Argentina"	""	"0"	""	""	""	"PatA18"
"00440236"	""	""	""	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	""	""	""	"Argentina"	""	"0"	""	""	"Poland;Germany;jew-Ashkenazi"	"PatA21"
"00440237"	""	""	""	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	""	""	""	"Argentina"	""	"0"	""	""	"Poland"	"PatA22"
"00440238"	""	""	""	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	""	""	""	"Argentina"	""	"0"	""	""	""	"PatA25"
"00440239"	""	""	""	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	""	""	""	"Argentina"	""	"0"	""	""	"Spain;Italy;Armenia"	"PatA27"
"00440240"	""	""	""	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	""	""	""	"Argentina"	""	"0"	""	""	""	"PatA28"
"00440241"	""	""	""	"2"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	"family, 2 affected sibs"	""	""	"Argentina"	""	"0"	""	""	"Chile"	"PatA31"
"00440242"	""	""	""	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	""	""	""	"Argentina"	""	"0"	""	""	""	"PatA40"
"00440243"	""	""	""	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	""	""	""	"Argentina"	""	"0"	""	""	"Spain;Italy"	"PatA42"
"00440244"	""	""	""	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	""	""	""	"Argentina"	""	"0"	""	""	"Spain;Arab"	"PatA45"
"00440245"	""	""	""	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	""	""	""	"Argentina"	""	"0"	""	""	"Germany;jew-Ashkenazi"	"PatA46"
"00440246"	""	""	""	"2"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	"family, 2 affected sibs"	""	""	"Argentina"	""	"0"	""	""	""	"PatA47"
"00440247"	""	""	""	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	""	""	""	"Argentina"	""	"0"	""	""	"jew-Ashkenazi"	"PatA48"
"00440248"	""	""	""	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	""	""	""	"Argentina"	""	"0"	""	""	""	"PatA50"
"00440249"	""	""	""	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	""	""	""	"Argentina"	""	"0"	""	""	""	"PatA51"
"00440250"	""	""	""	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	""	""	""	"Argentina"	""	"0"	""	""	"Spain"	"PatA54"
"00440251"	""	""	""	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	""	""	""	"Argentina"	""	"0"	""	""	""	"PatA55"
"00440252"	""	""	""	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	""	""	""	"Argentina"	""	"0"	""	""	"Spain;Germany;Italy"	"PatA56"
"00440253"	""	""	""	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	""	""	""	"Argentina"	""	"0"	""	""	"Spain"	"PatA57"
"00440254"	""	""	""	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	""	""	""	"Argentina"	""	"0"	""	""	"Spain"	"PatA59"
"00440255"	""	""	""	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	""	""	""	"Argentina"	""	"0"	""	""	"Russia;jew-Ashkenazi"	"PatA60"
"00440256"	""	""	"00440227"	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	"twin"	""	""	"Argentina"	""	"0"	""	""	"Spain;Poland;Russia;jew-Ashkenazi"	"PatA6"
"00440257"	""	""	"00440230"	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	"sib"	""	""	"Argentina"	""	"0"	""	""	""	"PatA12"
"00440258"	""	""	"00440230"	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	"sib"	""	""	"Argentina"	""	"0"	""	""	""	"PatA61"
"00440259"	""	""	"00440235"	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	"sib"	""	""	"Argentina"	""	"0"	""	""	""	"PatA19"
"00440260"	""	""	"00440241"	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	"sib"	""	""	"Argentina"	""	"0"	""	""	"Chile"	"PatA32"
"00440261"	""	""	"00440246"	"1"	""	"00006"	"{PMID:Pomponio 2005:16185907}"	"sib"	""	""	"Argentina"	""	"0"	""	""	""	"PatA44"
"00440295"	""	""	""	"1"	""	"00006"	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"India"	""	"0"	""	""	"Gujarat"	"Pat1"
"00440296"	""	""	""	"1"	""	"00006"	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"India"	""	"0"	""	""	"Maharashtra"	"Pat2"
"00440297"	""	""	""	"1"	""	"00006"	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"India"	""	"0"	""	""	"Maharashtra"	"Pat3"
"00440298"	""	""	""	"1"	""	"00006"	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"India"	""	"0"	""	""	"Maharashtra"	"Pat4"
"00440299"	""	""	""	"1"	""	"00006"	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"India"	""	"0"	""	""	"Gujarat"	"Pat5"
"00440300"	""	""	""	"1"	""	"00006"	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"India"	""	"0"	""	""	"Gujarat"	"Pat6"
"00440301"	""	""	""	"1"	""	"00006"	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"India"	""	"0"	""	""	"Maharashtra"	"Pat7"
"00440302"	""	""	""	"1"	""	"00006"	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"India"	""	"0"	""	""	"Maharashtra"	"Pat8"
"00440303"	""	""	""	"1"	""	"00006"	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"India"	""	"0"	""	""	"Maharashtra"	"Pat9"
"00440304"	""	""	""	"1"	""	"00006"	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"India"	""	"0"	""	""	"Gujarat"	"Pat10"
"00440305"	""	""	""	"1"	""	"00006"	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"India"	""	"0"	""	""	"Gujarat"	"Pat11"
"00440306"	""	""	""	"1"	""	"00006"	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"India"	""	"0"	""	""	"Maharashtra"	"Pat12"
"00440307"	""	""	""	"1"	""	"00006"	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"India"	""	"0"	""	""	"Kerala"	"Pat13"
"00440308"	""	""	""	"1"	""	"00006"	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"India"	""	"0"	""	""	"Maharashtra"	"Pat14"
"00440309"	""	""	""	"1"	""	"00006"	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"India"	""	"0"	""	""	"Maharashtra"	"Pat15"
"00440310"	""	""	""	"1"	""	"00006"	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"India"	""	"0"	""	""	"Kerala"	"Pat16"
"00440311"	""	""	""	"1"	""	"00006"	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"India"	""	"0"	""	""	"Maharashtra"	"Pat17"
"00440312"	""	""	""	"1"	""	"00006"	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"India"	""	"0"	""	""	"Karnataka"	"Pat18"
"00440313"	""	""	""	"1"	""	"00006"	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"India"	""	"0"	""	""	"Maharashtra"	"Pat19"
"00440314"	""	""	""	"1"	""	"00006"	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"India"	""	"0"	""	""	"Maharashtra"	"Pat20"
"00440315"	""	""	""	"1"	""	"00006"	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"India"	""	"0"	""	""	"Maharashtra"	"Pat21"
"00440316"	""	""	""	"1"	""	"00006"	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"India"	""	"0"	""	""	"Gujarat"	"Pat22"
"00440317"	""	""	""	"1"	""	"00006"	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"India"	""	"0"	""	""	"Maharashtra"	"Pat23"
"00440318"	""	""	""	"1"	""	"00006"	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"India"	""	"0"	""	""	"Maharashtra"	"Pat24"
"00440319"	""	""	""	"1"	""	"00006"	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"India"	""	"0"	""	""	"Sri Lanka"	"Pat25"
"00440320"	""	""	""	"1"	""	"00006"	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"India"	""	"0"	""	""	"Maharashtra"	"Pat26"
"00440321"	""	""	""	"1"	""	"00006"	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"India"	""	"0"	""	""	"Sri Lanka"	"Pat27"
"00440322"	""	""	""	"1"	""	"00006"	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"India"	""	"0"	""	""	"Sri Lanka"	"Pat28"
"00440323"	""	""	""	"1"	""	"00006"	"{PMID:Ankleshwaria 2014:24522292}"	""	"F"	""	"India"	""	"0"	""	""	"Delhi"	"Pat29"
"00440324"	""	""	""	"1"	""	"00006"	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"India"	""	"0"	""	""	"Maharashtra"	"Pat30"
"00440325"	""	""	""	"1"	""	"00006"	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"India"	""	"0"	""	""	"Gujarat"	"Pat31"
"00440326"	""	""	""	"1"	""	"00006"	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"India"	""	"0"	""	""	"Maharashtra"	"Pat32"
"00440327"	""	""	""	"1"	""	"00006"	"{PMID:Ankleshwaria 2014:24522292}"	""	"F"	""	"India"	""	"0"	""	""	"Maharashtra"	"Pat33"
"00457276"	""	""	""	"1"	""	"04769"	""	""	""	""	""	""	""	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 244
"{{individualid}}"	"{{diseaseid}}"
"00000012"	"00138"
"00000012"	"05378"
"00000023"	"05378"
"00080851"	"02728"
"00218928"	"04147"
"00289528"	"00198"
"00289529"	"00198"
"00289530"	"00198"
"00295439"	"00198"
"00295468"	"00198"
"00334906"	"00451"
"00414706"	"04214"
"00427056"	"00000"
"00427057"	"00000"
"00427058"	"00000"
"00435155"	"00414"
"00435156"	"07013"
"00435161"	"00414"
"00435163"	"01807"
"00435164"	"01806"
"00435165"	"01806"
"00435166"	"01806"
"00435167"	"01806"
"00435183"	"00414"
"00435184"	"01806"
"00435185"	"01806"
"00435186"	"01806"
"00435187"	"01806"
"00435188"	"01806"
"00435189"	"01806"
"00435190"	"01806"
"00435191"	"01806"
"00435193"	"01806"
"00435194"	"01806"
"00435195"	"01806"
"00435196"	"01806"
"00435197"	"01806"
"00435198"	"01806"
"00435199"	"01806"
"00435200"	"01806"
"00435204"	"01806"
"00435205"	"01806"
"00435206"	"01806"
"00440091"	"01806"
"00440092"	"01806"
"00440093"	"01806"
"00440094"	"01806"
"00440095"	"01806"
"00440096"	"01807"
"00440097"	"01808"
"00440098"	"01807"
"00440099"	"07013"
"00440100"	"07013"
"00440101"	"07013"
"00440102"	"07013"
"00440103"	"07013"
"00440104"	"07013"
"00440105"	"07013"
"00440106"	"07013"
"00440107"	"07013"
"00440110"	"01806"
"00440111"	"07013"
"00440112"	"07013"
"00440113"	"07013"
"00440114"	"07013"
"00440115"	"07013"
"00440116"	"07013"
"00440117"	"07013"
"00440118"	"07013"
"00440119"	"07013"
"00440120"	"07013"
"00440121"	"07013"
"00440122"	"07013"
"00440123"	"07013"
"00440124"	"07013"
"00440125"	"07013"
"00440126"	"07013"
"00440127"	"07013"
"00440128"	"07013"
"00440129"	"07013"
"00440130"	"07013"
"00440131"	"07013"
"00440132"	"07013"
"00440133"	"07013"
"00440134"	"07013"
"00440135"	"07013"
"00440136"	"07013"
"00440137"	"07013"
"00440138"	"07013"
"00440139"	"07013"
"00440140"	"07013"
"00440141"	"07013"
"00440142"	"07013"
"00440143"	"07013"
"00440144"	"07013"
"00440145"	"07013"
"00440146"	"07013"
"00440147"	"07013"
"00440148"	"07013"
"00440149"	"07013"
"00440150"	"07013"
"00440151"	"07013"
"00440152"	"07013"
"00440153"	"07013"
"00440154"	"07013"
"00440155"	"07013"
"00440156"	"07013"
"00440157"	"07013"
"00440158"	"07013"
"00440159"	"07013"
"00440160"	"07013"
"00440161"	"07013"
"00440162"	"07013"
"00440163"	"07013"
"00440164"	"07013"
"00440165"	"07013"
"00440166"	"07013"
"00440167"	"07013"
"00440168"	"07013"
"00440169"	"07013"
"00440170"	"07013"
"00440171"	"07013"
"00440172"	"07013"
"00440173"	"07013"
"00440174"	"07013"
"00440175"	"07013"
"00440176"	"07013"
"00440177"	"07013"
"00440178"	"07013"
"00440179"	"07013"
"00440180"	"07013"
"00440181"	"07013"
"00440182"	"07013"
"00440183"	"07013"
"00440184"	"07013"
"00440185"	"07013"
"00440186"	"07013"
"00440187"	"07013"
"00440188"	"07013"
"00440189"	"07013"
"00440190"	"07013"
"00440191"	"07013"
"00440192"	"07013"
"00440193"	"07013"
"00440195"	"07013"
"00440196"	"07013"
"00440197"	"07013"
"00440198"	"07013"
"00440200"	"07013"
"00440201"	"07013"
"00440202"	"07013"
"00440203"	"07013"
"00440204"	"07013"
"00440205"	"07013"
"00440206"	"07013"
"00440207"	"07013"
"00440208"	"07013"
"00440209"	"07013"
"00440210"	"07013"
"00440211"	"07013"
"00440212"	"07013"
"00440213"	"07013"
"00440214"	"07013"
"00440215"	"07013"
"00440216"	"07013"
"00440217"	"07013"
"00440218"	"07013"
"00440219"	"07013"
"00440220"	"07013"
"00440221"	"07013"
"00440222"	"07013"
"00440223"	"07013"
"00440224"	"07013"
"00440225"	"07013"
"00440226"	"07013"
"00440227"	"07013"
"00440228"	"07013"
"00440229"	"07013"
"00440230"	"07013"
"00440231"	"07013"
"00440232"	"07013"
"00440233"	"07013"
"00440234"	"07013"
"00440235"	"07013"
"00440236"	"07013"
"00440237"	"07013"
"00440238"	"07013"
"00440239"	"07013"
"00440240"	"07013"
"00440241"	"07013"
"00440242"	"07013"
"00440243"	"07013"
"00440244"	"07013"
"00440245"	"07013"
"00440246"	"07013"
"00440247"	"07013"
"00440248"	"07013"
"00440249"	"07013"
"00440250"	"07013"
"00440251"	"07013"
"00440252"	"07013"
"00440253"	"07013"
"00440254"	"07013"
"00440255"	"07013"
"00440256"	"07013"
"00440257"	"07013"
"00440258"	"07013"
"00440259"	"07013"
"00440260"	"07013"
"00440261"	"07013"
"00440295"	"07013"
"00440296"	"07013"
"00440297"	"07013"
"00440298"	"07013"
"00440299"	"07013"
"00440300"	"07013"
"00440301"	"07013"
"00440302"	"07013"
"00440303"	"07013"
"00440304"	"07013"
"00440305"	"07013"
"00440306"	"07013"
"00440307"	"07013"
"00440308"	"07013"
"00440309"	"07013"
"00440310"	"07013"
"00440311"	"07013"
"00440312"	"07013"
"00440313"	"07013"
"00440314"	"07013"
"00440315"	"07013"
"00440316"	"07013"
"00440317"	"07013"
"00440318"	"07013"
"00440319"	"07013"
"00440320"	"07013"
"00440321"	"07013"
"00440322"	"07013"
"00440323"	"07013"
"00440324"	"07013"
"00440325"	"07013"
"00440326"	"07013"
"00440327"	"07013"
"00457276"	"00414"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00138, 00198, 00414, 00451, 01294, 01806, 01807, 01808, 01809, 02728, 04147, 04214, 05378, 07013
## Count = 226
"{{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}}"
"0000060420"	"02728"	"00080851"	"01758"	"Familial, autosomal recessive"	""	"Gaucher disease, perinatal lethal (OMIM:608013)"	""	""	""	""	""	""	""	""	""	""	""
"0000167469"	"04147"	"00218928"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"NEDIDHA"	""	""
"0000257418"	"00451"	"00334906"	"00006"	"Familial, autosomal recessive"	""	"Onset age 8 of myoclonus. Associated with ataxia, horizontal gaze palsy, mild splenomegaly and mild intellectual disability. Progressive course, death age 19."	""	""	""	""	""	""	""	""	""	"Unverricht-Lundborg disease like"	""
"0000306501"	"04214"	"00414706"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Tay-Sachs disease"	""	""
"0000325368"	"01807"	"00435163"	"04507"	"Unknown"	"00y08m15d"	"died at 8.5m; splenomegaly, hepatomegaly, thrombocytopenia, anemia, seizures, head retroflection, hyperreflexia"	"00y01m"	""	""	""	""	""	""	""	"GD2"	"Gaucher disease"	""
"0000325369"	"01806"	"00435164"	"04507"	"Unknown"	""	"Splenomegaly, three asymptomatic; most very mild"	""	""	""	""	""	""	""	""	""	""	""
"0000325371"	"01806"	"00435166"	"04507"	"Unknown"	""	"I.13: splenomegaly, hepatomegaly, thrombocytopenia, cystalgia. I.30: splenomegaly, thrombocytopenia, leukopenia, chronic diarrhea, skin pigmentation. I.31:splenomegaly, hepatomegaly, thrombocytopenia, thrombocytopenia, leukopenia, stature and pubertal developmentdelayed, portal hypertension, irregularity of right humerus"	""	""	""	""	""	""	""	""	"GD1"	""	""
"0000325388"	"01806"	"00435165"	"04507"	"Unknown"	""	"All splenomegaly, 6 patients also hepatomegaly, 7 patients with pancytopenia, 4with bone disease,  one (I.39) asymptomatic at present age of 05y"	""	""	""	""	""	""	""	""	"GD1"	""	""
"0000325389"	"01806"	"00435184"	"04507"	"Unknown"	""	"Both: splenomegaly, hepatomegaly, epistaxis. I.8: pancytopenia, femur deformity. I.24: thrombocytopenia"	""	""	""	""	""	""	""	""	"GD1"	""	""
"0000325390"	"01806"	"00435185"	"04507"	"Unknown"	"07y"	"splenomegaly"	""	""	""	""	""	""	""	""	"GD1"	""	""
"0000325391"	"01806"	"00435186"	"04507"	"Unknown"	"09y"	"splenomegaly, hepatomegaly, macrocephaly"	""	""	""	""	""	""	""	""	"GD1"	""	""
"0000325392"	"01806"	"00435187"	"04507"	"Unknown"	"15y"	"splenomegaly, thrombocytopenia, anemia, bone pain"	""	""	""	""	""	""	""	""	"GD1"	""	""
"0000325393"	"01806"	"00435188"	"04507"	"Unknown"	"10y"	"splenomegaly, hepatomegaly, thrombocytopenia"	""	""	""	""	""	""	""	""	"GD1"	""	""
"0000325394"	"01806"	"00435189"	"04507"	"Unknown"	"09y"	"splenomegaly, hepatomegaly, leukopenia, splenectomy at 9 yr"	""	""	""	""	""	""	""	""	"GD1"	""	""
"0000325395"	"01806"	"00435190"	"04507"	"Unknown"	"35y"	"splenomegaly, hepatomegaly, epistaxis,  easy bruising, femur deformity, conjunctival pingueculae"	""	""	""	""	""	""	""	""	"GD1"	""	""
"0000325396"	"01806"	"00435191"	"04507"	"Unknown"	"05y"	"splenomegaly, hepatomegaly, femur infarcts"	""	""	""	""	""	""	""	""	"GD1"	""	""
"0000325398"	"01806"	"00435193"	"04507"	"Unknown"	"47y"	"Atypical parkinson"	""	""	""	""	""	""	""	""	"GD1"	""	""
"0000325399"	"01806"	"00435194"	"04507"	"Unknown"	"39y"	"splenomegaly, hepatomegaly, digestive hemorrhagia, ulcus gastroduodenal, hepatopathy, skin pigmentation, bone deformities"	""	""	""	""	""	""	""	""	"GD1"	""	""
"0000325400"	"01806"	"00435195"	"04507"	"Unknown"	"04y"	"splenomegaly, hepatomegaly,  mild pancytopenia, epistaxis, bone crisis, femur deformity, skin pigmentation"	""	""	""	""	""	""	""	""	"GD1"	""	""
"0000325401"	"01806"	"00435196"	"04507"	"Unknown"	"04y"	"splenomegaly, hepatomegaly, anemia, bone disease"	"00y07m"	""	""	""	""	""	""	""	"GD1"	""	""
"0000325402"	"01806"	"00435197"	"04507"	"Unknown"	"25y"	"splenomegaly, pancytopenia, bone deformity, aseptic necrosis"	""	""	""	""	""	""	""	""	"GD1"	""	""
"0000325403"	"01806"	"00435199"	"04507"	"Unknown"	"36y"	"splenomegaly, hepatomegaly, anemia, thrombocytopenia, stature development delayed, jaundice, skin pigmentation"	"08y"	""	""	""	""	""	""	""	"GD1"	""	""
"0000325404"	"01806"	"00435200"	"04507"	"Unknown"	"26y"	"splenomegaly, thrombocytopenia, familial factor IX deficiency"	""	""	""	""	""	""	""	""	"GD1"	""	""
"0000325406"	"01806"	"00435204"	"04507"	"Unknown"	"06y"	"splenomegaly, hepatomegaly, pancytopenia"	""	""	""	""	""	""	""	""	"GD1"	""	""
"0000325407"	"01806"	"00435205"	"04507"	"Unknown"	"87y"	"splenomegaly, hepatomegaly, epistaxis, pancytopenia"	""	""	""	""	""	""	""	""	"GD1"	""	""
"0000325408"	"01806"	"00435206"	"04507"	"Familial, autosomal recessive"	"14y"	"splenomegaly, hepatomegaly"	"02y06m"	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000325417"	"07013"	"00435156"	"04507"	"Familial, autosomal recessive"	"02y08m"	"massive splenomegaly, hepatic Gaucheroma; persistent abdominal distension during the previous 18 months; blood exams show anemia, thrombocytopenia, adequate hepato-renal function, normal hemoglobin chain analysis; physical examination, significant abdominal distension underlying massive splenomegaly (the splenic pole reached the low hypogastric region) and hepatomegaly was noted without any other significant symptom: general clinical conditions and neurological examination were in order; development and growth also appeared adequate"	""	""	""	""	""	""	""	""	"GD"	"pediatric Gaucher disease"	""
"0000325418"	"00414"	"00435161"	"00006"	"Unknown"	"52y"	""	""	""	""	""	""	""	""	""	"PD"	"Parkinson disease"	""
"0000329989"	"01806"	"00440091"	"00006"	"Familial, autosomal recessive"	"05y"	"see paper; ..., 5y-deceased (pulmonary complication); severe visceral involvement"	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000329990"	"01806"	"00440092"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., moderate splenomegaly"	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000329991"	"01806"	"00440093"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., severe bone disease"	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000329992"	"01806"	"00440094"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., mild splenomegaly"	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000329993"	"01806"	"00440095"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., severe splenomegaly"	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000329994"	"01807"	"00440096"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., classic type 2"	""	""	""	""	""	""	""	""	"GD2"	"Gaucher disease"	""
"0000329995"	"01808"	"00440097"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., oculomotor apraxia"	""	""	""	""	""	""	""	""	"GD3"	"Gaucher disease"	""
"0000329996"	"01807"	"00440098"	"00006"	"Familial, autosomal recessive"	"00y00m01d"	"see paper; ..., 37w-birth Caesarean section due\r\nto fetal distress; 9h-deceased; severe asphyxia, respiration did not become voluntary; autopsy hepatomegaly, no activity of glucocerebrosidase"	""	""	""	""	""	""	""	""	"GD2"	"severe Gaucher disease type II"	""
"0000329997"	"07013"	"00440099"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., no neurologic findings, severity score 5"	""	"6y"	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000329998"	"07013"	"00440100"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., no neurologic findings, severity score 12"	""	"3y"	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000329999"	"07013"	"00440101"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., no neurologic findings, severity score 7"	""	"5y"	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330000"	"07013"	"00440102"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., no neurologic findings, severity score 15"	""	"13y"	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330001"	"07013"	"00440103"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., no neurologic findings, severity score 9"	""	"27y"	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330002"	"07013"	"00440104"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., no neurologic findings, severity score 20"	""	"22y"	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330003"	"07013"	"00440105"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., no neurologic findings, severity score 9"	""	"19y"	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330004"	"07013"	"00440106"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., no neurologic findings, severity score 4"	""	"16y"	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330005"	"07013"	"00440107"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., no neurologic findings, severity score 12"	""	"7y"	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330008"	"01806"	"00440110"	"00006"	"Familial, autosomal recessive"	"21y"	"see paper; ..., 9y-splenectomy; 10y-episodic bone pain, no fractures; 21y-massive hepatomegal,  mild abnormalities function tests"	""	"03y"	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330009"	"07013"	"00440111"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330010"	"07013"	"00440112"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330011"	"07013"	"00440113"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330012"	"07013"	"00440114"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330013"	"07013"	"00440115"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330014"	"07013"	"00440116"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330015"	"07013"	"00440117"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330016"	"07013"	"00440118"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330017"	"07013"	"00440119"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330018"	"07013"	"00440120"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330019"	"07013"	"00440121"	"00006"	"Familial, autosomal recessive"	"4y6m"	"see paper; ..., hepatosplenomegaly"	""	"2y4m"	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330020"	"07013"	"00440122"	"00006"	"Familial, autosomal recessive"	"7y"	"see paper; ...,massive hepatosplenomegaly, bony involvement"	""	"1y"	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330021"	"07013"	"00440123"	"00006"	"Familial, autosomal recessive"	"7y"	"see paper; ...,hepatosplenomegaly"	""	"7m"	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330022"	"07013"	"00440124"	"00006"	"Familial, autosomal recessive"	"20y"	"see paper; ...,splenomegaly"	""	"18y"	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330023"	"07013"	"00440125"	"00006"	"Familial, autosomal recessive"	"17y"	"see paper; ...,asymptomatic, mild hepatosplenomegaly"	""	"17y"	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330024"	"07013"	"00440126"	"00006"	"Familial, autosomal recessive"	""	"see paper; ...,hepatosplenomegaly, mild pancytopenia, bony disease"	""	"47y"	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330025"	"07013"	"00440127"	"00006"	"Familial, autosomal recessive"	""	"see paper; ...,hepatosplenomegaly, mild pancytopenia, bony disease"	""	"43y"	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330026"	"07013"	"00440128"	"00006"	"Familial, autosomal recessive"	"46y"	"see paper; ..., no neurologic signs, severity score 7"	"34y"	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330027"	"07013"	"00440129"	"00006"	"Familial, autosomal recessive"	"21y"	"see paper; ..., no neurologic signs, severity score 13"	"20m"	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330028"	"07013"	"00440130"	"00006"	"Familial, autosomal recessive"	"56y"	"see paper; ..., no neurologic signs, severity score 6"	"35y"	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330029"	"07013"	"00440131"	"00006"	"Familial, autosomal recessive"	"33y"	"see paper; ..., no neurologic signs, severity score 14"	"3m"	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330030"	"07013"	"00440132"	"00006"	"Familial, autosomal recessive"	"6y"	"see paper; ..., no neurologic signs, severity score 6"	"5y"	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330031"	"07013"	"00440133"	"00006"	"Familial, autosomal recessive"	"7y"	"see paper; ..., no neurologic signs, severity score 4"	"7y"	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330032"	"07013"	"00440134"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330033"	"07013"	"00440135"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"GD2"	"Gaucher disease"	""
"0000330034"	"07013"	"00440136"	"00006"	"Familial, autosomal recessive"	"1"	"see paper; ..., no splenectomy, no bone involvement, severity score 7"	""	"1y6m"	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330035"	"07013"	"00440137"	"00006"	"Familial, autosomal recessive"	"14y"	"see paper; ..., no splenectomy, no bone involvement, severity score 7"	""	"3y"	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330036"	"07013"	"00440138"	"00006"	"Familial, autosomal recessive"	"14y"	"see paper; ..., deceased, splenectomy, bone involvement"	""	"3y"	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330037"	"07013"	"00440139"	"00006"	"Familial, autosomal recessive"	"14y"	"see paper; ..., deceased, splenectomy, bone involvement"	""	"7y"	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330038"	"07013"	"00440140"	"00006"	"Familial, autosomal recessive"	"8y"	"see paper; ..., no splenectomy, bone involvement, severity score 11"	""	"1y6m"	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330039"	"07013"	"00440141"	"00006"	"Familial, autosomal recessive"	"14y"	"see paper; ..., splenectomy, no bone involvement, severity score 15"	""	"6y"	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330040"	"07013"	"00440142"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330041"	"07013"	"00440143"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330042"	"07013"	"00440144"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330043"	"07013"	"00440145"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330044"	"07013"	"00440146"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330045"	"07013"	"00440147"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330046"	"07013"	"00440148"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330047"	"07013"	"00440149"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330048"	"07013"	"00440150"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330049"	"07013"	"00440151"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330050"	"07013"	"00440152"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330051"	"07013"	"00440153"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330052"	"07013"	"00440154"	"00006"	"Familial, autosomal recessive"	"05y"	"see paper; ..."	""	""	""	""	""	""	""	""	"GD3"	"Gaucher disease"	""
"0000330053"	"07013"	"00440155"	"00006"	"Familial, autosomal recessive"	"11y"	"see paper; ..."	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330054"	"07013"	"00440156"	"00006"	"Familial, autosomal recessive"	"25y"	"see paper; ..."	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330055"	"07013"	"00440157"	"00006"	"Familial, autosomal recessive"	"35y"	"see paper; ..."	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330056"	"07013"	"00440158"	"00006"	"Familial, autosomal recessive"	"45y"	"see paper; ..."	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330057"	"07013"	"00440159"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330058"	"07013"	"00440160"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330059"	"07013"	"00440164"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330060"	"07013"	"00440165"	"00006"	"Familial, autosomal recessive"	""	"see paper; ... severe GD1"	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330061"	"07013"	"00440166"	"00006"	"Familial, autosomal recessive"	""	"see paper; ... severe GD1"	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330062"	"07013"	"00440167"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"GD2"	"Gaucher disease"	""
"0000330063"	"07013"	"00440168"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330064"	"07013"	"00440169"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330065"	"07013"	"00440170"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330066"	"07013"	"00440171"	"00006"	"Familial, autosomal recessive"	""	"see pper; ..."	""	""	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330067"	"07013"	"00440172"	"00006"	"Familial, autosomal recessive"	""	"see paper; affected twins deceased 2d/5m"	""	""	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330068"	"07013"	"00440173"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330069"	"07013"	"00440174"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330070"	"07013"	"00440175"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330071"	"07013"	"00440176"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"GD3"	"Gaucher disease"	""
"0000330072"	"07013"	"00440177"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"GD3"	"Gaucher disease"	""
"0000330073"	"07013"	"00440178"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., mild hepatosplenomegaly, cytopenia, bone involvement"	""	"19y"	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330074"	"07013"	"00440179"	"00006"	"Familial, autosomal recessive"	"40y"	"see paper; ..., mild hepatomegaly, cytopenia; 40y-splenectomy"	""	"38y"	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330075"	"07013"	"00440180"	"00006"	"Familial, autosomal recessive"	"41y"	"see paper; ..., 8y-splenectomy; 41y-severe bone involvement, chronic bone pain,massive hepatomegaly"	""	"8y"	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330076"	"07013"	"00440181"	"00006"	"Familial, autosomal recessive"	"22y"	"see paper; ..., neuronopathic; hepatosplenomegaly, thrombocytopenia, leukopenia, abdominal pain over area spleen, fatigue, myoclonic epilepsy, and intellectual deterioration since childhood"	""	""	""	""	""	""	""	""	"GD3"	"Gaucher disease"	""
"0000330077"	"07013"	"00440182"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"GD2"	"Gaucher disease"	""
"0000330078"	"07013"	"00440183"	"00006"	"Familial, autosomal recessive"	"21y"	"see paper; ..., 6y6m-splenomegaly, no bone pain, no neurological symptoms; 13y-6m-hypersplenism, left flank pain, spleen large and hard, filling whole left abdomen, splenectomy"	""	""	""	""	""	""	""	""	"GD1"	"splenomegaly"	""
"0000330079"	"07013"	"00440184"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330080"	"07013"	"00440185"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., moderately severe"	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330081"	"07013"	"00440186"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., acute neuronopathic"	""	""	""	""	""	""	""	""	"GD2"	"Gaucher disease"	""
"0000330082"	"07013"	"00440187"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., acute neuronopathic"	""	""	""	""	""	""	""	""	"GD2"	"Gaucher disease"	""
"0000330083"	"07013"	"00440188"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., chronic neuronopathic"	""	""	""	""	""	""	""	""	"GD3"	"Gaucher disease"	""
"0000330084"	"07013"	"00440189"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., chronic neuronopathic"	""	""	""	""	""	""	""	""	"GD3"	"Gaucher disease"	""
"0000330085"	"07013"	"00440190"	"00006"	"Unknown"	""	"see paper; ..., acute neuronopathic"	""	""	""	""	""	""	""	""	"GD2"	"Gaucher disease"	""
"0000330086"	"07013"	"00440191"	"00006"	"Unknown"	""	"see paper; ..., non-neuronopathic"	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330087"	"07013"	"00440162"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330088"	"07013"	"00440192"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330089"	"07013"	"00440193"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330091"	"07013"	"00440195"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., moderately severe Gaucher disease"	""	""	""	""	""	""	""	""	""	"Gaucher disease"	""
"0000330092"	"07013"	"00440196"	"00006"	"Familial, autosomal recessive"	"10y"	"see paper; ..., 10y-visceral involvement, seizures\r\nand/or mental retardation"	""	""	""	""	""	""	""	""	"GD3"	"Gaucher disease"	""
"0000330093"	"07013"	"00440197"	"00006"	"Familial, autosomal recessive"	"25y"	"see pape; ... 25y-visceral involvement, seizures\r\nand/or mental retardation"	""	""	""	""	""	""	""	""	"GD3"	"Gaucher disease"	""
"0000330094"	"07013"	"00440198"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"GD2"	"Gaucher disease"	""
"0000330095"	"07013"	"00440200"	"00006"	"Familial, autosomal recessive"	""	"splenectomy, severe bone disease"	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330096"	"07013"	"00440201"	"00006"	"Familial, autosomal recessive"	""	"splenomegaly, hepatomegaly, mild bone disease"	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330097"	"07013"	"00440202"	"00006"	"Familial, autosomal recessive"	""	"splenectomy, severe bone disease, avascular necrosis, bone crises"	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330098"	"07013"	"00440203"	"00006"	"Familial, autosomal recessive"	""	"severe bone disease, bone crises, splenomegaly"	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330099"	"07013"	"00440204"	"00006"	"Familial, autosomal recessive"	""	"splenectomy, severe bone disease, bone crises, fractures"	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330100"	"07013"	"00440205"	"00006"	"Familial, autosomal recessive"	""	"splenomegaly, hepatomegaly, anemia, thrombocytopenia"	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330101"	"07013"	"00440206"	"00006"	"Familial, autosomal recessive"	""	"splenectomy, hepatomegaly, severe bone disease, avascular necrosis, bone crises"	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330102"	"07013"	"00440207"	"00006"	"Familial, autosomal recessive"	""	"splenomegaly, hepatomegaly, anemia, thrombocytopenia"	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330103"	"07013"	"00440208"	"00006"	"Familial, autosomal recessive"	""	"splenomegaly, anemia, thrombocytopenia"	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330104"	"07013"	"00440209"	"00006"	"Familial, autosomal recessive"	""	"splenomegaly, hepatomegaly, anemia, thrombocytopenia"	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330105"	"07013"	"00440210"	"00006"	"Familial, autosomal recessive"	""	"anemia, thrombocytopenia"	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330106"	"07013"	"00440211"	"00006"	"Familial, autosomal recessive"	""	"splenomegaly, hepatomegaly, anemia, thrombocytopenia"	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330107"	"07013"	"00440212"	"00006"	"Familial, autosomal recessive"	""	"splenomegaly, hepatomegaly, anemia, thrombocytopenia, mild bone disease"	""	""	""	""	""	""	""	""	"GD3b"	"Gaucher disease"	""
"0000330108"	"07013"	"00440213"	"00006"	"Familial, autosomal recessive"	""	"splenomegaly, hepatomegaly, anemia, thrombocytopenia"	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330109"	"07013"	"00440214"	"00006"	"Familial, autosomal recessive"	""	"splenomegaly, hepatomegaly, thrombocytopenia"	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330110"	"07013"	"00440215"	"00006"	"Familial, autosomal recessive"	""	"severe bone disease, anemia , thrombocytopenia, avascular necrosis, bone crises"	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330111"	"07013"	"00440216"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330112"	"07013"	"00440217"	"00006"	"Familial, autosomal recessive"	""	"anemia, thrombocytopenia, bone crises, avascular necrosis, severe bone disease"	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330113"	"07013"	"00440218"	"00006"	"Familial, autosomal recessive"	""	"anemia, thrombocytopenia, bone crises, avascular necrosis, severe bone disease"	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330114"	"07013"	"00440219"	"00006"	"Familial, autosomal recessive"	""	"anemia, thrombocytopenia bone crises"	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330115"	"07013"	"00440220"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330116"	"07013"	"00440221"	"00006"	"Familial, autosomal recessive"	""	"anemia, thrombocytopenia, mild bone disease"	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330117"	"07013"	"00440222"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330118"	"07013"	"00440223"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330119"	"07013"	"00440224"	"00006"	"Familial, autosomal recessive"	""	"splenomegaly, hepatomegaly, anemia, thrombocytopenia, mild bone disease"	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330120"	"07013"	"00440225"	"00006"	"Familial, autosomal recessive"	""	"deceased, splenomegaly"	"10m"	""	""	""	""	""	""	""	"GD2"	"Gaucher disease"	""
"0000330121"	"07013"	"00440226"	"00006"	"Familial, autosomal recessive"	"41y"	"splenomegaly, epitaxis"	"36y"	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330122"	"07013"	"00440227"	"00006"	"Familial, autosomal recessive"	"18y"	"splenomegaly, splenohepatomegaly"	"2y"	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330123"	"07013"	"00440228"	"00006"	"Familial, autosomal recessive"	""	"splenomegaly"	"1y"	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330124"	"07013"	"00440229"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330125"	"07013"	"00440230"	"00006"	"Familial, autosomal recessive"	"19y"	"bone disease"	"15y"	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330126"	"07013"	"00440231"	"00006"	"Familial, autosomal recessive"	"47y"	"splenomegaly"	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330127"	"07013"	"00440232"	"00006"	"Familial, autosomal recessive"	"9y"	"splenomegaly"	"1y"	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330128"	"07013"	"00440233"	"00006"	"Familial, autosomal recessive"	"3y"	"splenohepatomegaly"	"1y"	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330129"	"07013"	"00440234"	"00006"	"Familial, autosomal recessive"	"54y"	""	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330130"	"07013"	"00440235"	"00006"	"Familial, autosomal recessive"	"15y"	"bone disease, splenomegaly"	"6y"	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330131"	"07013"	"00440236"	"00006"	"Familial, autosomal recessive"	"66y"	"splenomegaly"	"21y"	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330132"	"07013"	"00440237"	"00006"	"Familial, autosomal recessive"	"10m"	"splenomegaly"	"9m"	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330133"	"07013"	"00440238"	"00006"	"Familial, autosomal recessive"	"12y"	"splenomegaly"	"6y"	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330134"	"07013"	"00440239"	"00006"	"Familial, autosomal recessive"	"8y"	"splenomegaly, adenopathy (poband, unaffected sister and mother beta-thalassemia)"	"7y"	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330135"	"07013"	"00440240"	"00006"	"Familial, autosomal recessive"	""	"splenomegaly"	"46y"	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330136"	"07013"	"00440241"	"00006"	"Familial, autosomal recessive"	"19y"	"splenomegaly"	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330137"	"07013"	"00440242"	"00006"	"Familial, autosomal recessive"	"14y"	"splenohepatomegaly"	"10y"	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330138"	"07013"	"00440243"	"00006"	"Familial, autosomal recessive"	"10y"	"splenomegaly"	"2y"	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330139"	"07013"	"00440244"	"00006"	"Familial, autosomal recessive"	"4y"	"splenomegaly"	"3y"	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330140"	"07013"	"00440245"	"00006"	"Familial, autosomal recessive"	"51y"	""	"4y"	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330141"	"07013"	"00440246"	"00006"	"Familial, autosomal recessive"	"4y"	"splenomegaly"	"3y"	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330142"	"07013"	"00440247"	"00006"	"Familial, autosomal recessive"	"20y"	"splenomegaly"	"1y"	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330143"	"07013"	"00440248"	"00006"	"Familial, autosomal recessive"	"5y"	"bone disease"	"3y"	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330144"	"07013"	"00440249"	"00006"	"Familial, autosomal recessive"	"2y"	"splenohepatomegaly"	"1y"	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330145"	"07013"	"00440250"	"00006"	"Familial, autosomal recessive"	"31y"	"icterius"	"30y"	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330146"	"07013"	"00440251"	"00006"	"Familial, autosomal recessive"	"33y"	"splenohepatomegaly"	"6y"	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330147"	"07013"	"00440252"	"00006"	"Familial, autosomal recessive"	"20y"	"splenomegaly"	"6y"	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330148"	"07013"	"00440253"	"00006"	"Familial, autosomal recessive"	"4y"	"splenohepatomegaly"	"8m"	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330149"	"07013"	"00440254"	"00006"	"Familial, autosomal recessive"	"6y"	"splenomegaly"	"4y"	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330150"	"07013"	"00440255"	"00006"	"Familial, autosomal recessive"	"47y"	"splenomegaly"	"10m"	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330151"	"07013"	"00440256"	"00006"	"Familial, autosomal recessive"	"18y"	"splenomegaly, splenohepatomegaly"	"3y"	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330152"	"07013"	"00440257"	"00006"	"Familial, autosomal recessive"	"18y"	"bone disease"	"15y"	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330153"	"07013"	"00440258"	"00006"	"Familial, autosomal recessive"	"17y"	"bone disease"	"15y"	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330154"	"07013"	"00440259"	"00006"	"Familial, autosomal recessive"	"10y"	"bone disease, splenomegaly"	"5y"	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330155"	"07013"	"00440260"	"00006"	"Familial, autosomal recessive"	"12y"	"splenomegaly"	""	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330156"	"07013"	"00440261"	"00006"	"Familial, autosomal recessive"	"4y"	"splenomegaly"	"8m"	""	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330192"	"07013"	"00440295"	"00006"	"Familial, autosomal recessive"	""	"hepatomegaly, splenomegaly, anemia, enzyme replacement therapy"	""	"9y"	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330193"	"07013"	"00440296"	"00006"	"Familial, autosomal recessive"	""	"hepatomegaly, splenomegaly, saccade movement eye"	""	"2y6m"	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330194"	"07013"	"00440297"	"00006"	"Familial, autosomal recessive"	""	"hepatomegaly, splenomegaly, anemia, splenectomy, SB"	""	"19y"	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330195"	"07013"	"00440298"	"00006"	"Familial, autosomal recessive"	""	"hepatomegaly, splenomegaly, delayed milestones, enzyme replacement therapy"	""	"2y6m"	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330196"	"07013"	"00440299"	"00006"	"Familial, autosomal recessive"	""	"hepatomegaly, splenomegaly, thrombocytopenia, enzyme replacement therapy"	""	"3y"	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330197"	"07013"	"00440300"	"00006"	"Familial, autosomal recessive"	""	"hepatomegaly, splenomegaly, anemia, thrombocytopenia, bone disease"	""	"15m"	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330198"	"07013"	"00440301"	"00006"	"Familial, autosomal recessive"	""	"enzyme replacement therapy"	""	"21y"	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330199"	"07013"	"00440302"	"00006"	"Familial, autosomal recessive"	""	"hepatomegaly, splenomegaly, Gaucher cells in bone marrow, cranial nerves affected"	""	"3y"	""	""	""	""	""	""	"GD3"	"Gaucher disease"	""
"0000330200"	"07013"	"00440303"	"00006"	"Familial, autosomal recessive"	""	""	""	"10y"	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330201"	"07013"	"00440304"	"00006"	"Familial, autosomal recessive"	""	"hepatomegaly, splenomegaly, anemia, thrombocytopenia, enzyme replacement therapy"	""	"15m"	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330202"	"07013"	"00440305"	"00006"	"Familial, autosomal recessive"	""	"hepatomegaly, splenomegaly, anemia, Gaucher cells in bone marrow"	""	"1y"	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330203"	"07013"	"00440306"	"00006"	"Familial, autosomal recessive"	""	"hepatomegaly, splenomegaly, Gaucher cells in bone marrow, delayed milestones"	""	"3y"	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330204"	"07013"	"00440307"	"00006"	"Familial, autosomal recessive"	""	"hepatomegaly, splenomegaly, Gaucher cells in bone marrow"	""	"4y6m"	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330205"	"07013"	"00440308"	"00006"	"Familial, autosomal recessive"	""	"hepatomegaly, splenomegaly, anemia, thrombocytopenia"	""	"8y"	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330206"	"07013"	"00440309"	"00006"	"Familial, autosomal recessive"	""	"splenomegaly, Gaucher cells in bone marrow, anemia, thrombocytopenia"	""	"6y"	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330207"	"07013"	"00440310"	"00006"	"Familial, autosomal recessive"	""	"hepatomegaly, splenomegaly, anemia, thrombocytopenia"	""	"10m"	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330208"	"07013"	"00440311"	"00006"	"Familial, autosomal recessive"	""	"hepatomegaly, splenomegaly"	""	"2y"	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330209"	"07013"	"00440312"	"00006"	"Familial, autosomal recessive"	""	"hepatomegaly, splenomegaly"	""	"2y6m"	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330210"	"07013"	"00440313"	"00006"	"Familial, autosomal recessive"	""	"hepatomegaly, splenomegaly, anemia, thrombocytopenia"	""	"40y"	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330211"	"07013"	"00440314"	"00006"	"Familial, autosomal recessive"	""	"hepatomegaly, splenomegaly"	""	"6y"	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330212"	"07013"	"00440315"	"00006"	"Familial, autosomal recessive"	""	"hepatomegaly, splenomegaly"	""	"2y"	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330213"	"07013"	"00440316"	"00006"	"Familial, autosomal recessive"	""	"hepatomegaly, splenomegaly, Gaucher cells in bone marrow, anemia, thrombocytopenia"	""	"2y6m"	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330214"	"07013"	"00440317"	"00006"	"Familial, autosomal recessive"	""	"hepatomegaly, splenomegaly, Gaucher cells in bone marrow"	""	"2y"	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330215"	"07013"	"00440318"	"00006"	"Familial, autosomal recessive"	""	"hepatomegaly, splenomegaly"	""	"2y"	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330216"	"07013"	"00440319"	"00006"	"Familial, autosomal recessive"	""	"hepatomegaly, splenomegaly, anemia, bone disease"	""	"10m"	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330217"	"07013"	"00440320"	"00006"	"Familial, autosomal recessive"	""	"hepatomegaly, splenomegaly, Gaucher cells in bone marrow, enzyme replacement therapy"	""	"7y"	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330218"	"07013"	"00440321"	"00006"	"Familial, autosomal recessive"	""	"hepatomegaly, splenomegaly, Gaucher cells in bone marrow, anemia, growth retardation"	""	"4y6m"	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330219"	"07013"	"00440322"	"00006"	"Familial, autosomal recessive"	""	"hepatomegaly, splenomegaly, Gaucher cells in bone marrow, bone disease, growth retardation, splenectomy"	""	"11y"	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330220"	"07013"	"00440323"	"00006"	"Familial, autosomal recessive"	""	"hepatomegaly, splenomegaly, delayed milestones"	""	"1y"	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330221"	"07013"	"00440324"	"00006"	"Familial, autosomal recessive"	""	"hepatomegaly, splenomegaly, bone marrow transplantation"	""	"1y"	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330222"	"07013"	"00440325"	"00006"	"Familial, autosomal recessive"	""	"hepatomegaly, splenomegaly, Gaucher cells in bone marrow, avascular necrosis, anemia, thrombocytopenia"	""	"20y"	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330223"	"07013"	"00440326"	"00006"	"Familial, autosomal recessive"	""	"hepatomegaly, splenomegaly, thrombocytopenia"	""	"1y10m"	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""
"0000330224"	"07013"	"00440327"	"00006"	"Familial, autosomal recessive"	""	"hepatomegaly, splenomegaly"	""	"9y"	""	""	""	""	""	""	"GD1"	"Gaucher disease"	""


## Screenings ## Do not remove or alter this header ##
## Count = 247
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000000012"	"00000012"	"1"	"00004"	""	"2012-05-11 13:18:38"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000023"	"00000023"	"1"	"00004"	""	"2012-05-11 13:18:41"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000048"	"00000048"	"1"	"00004"	""	"2012-05-11 13:18:48"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000058"	"00000058"	"1"	"00004"	""	"2012-05-11 13:18:53"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000059"	"00000059"	"1"	"00004"	""	"2012-05-11 13:18:53"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000060"	"00000060"	"1"	"00004"	""	"2012-05-11 13:18:54"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000080963"	"00080851"	"1"	"01758"	"00006"	"2016-09-07 13:24:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000220000"	"00218928"	"1"	"00006"	"00006"	"2019-02-01 10:32:03"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"trio WES"
"0000290696"	"00289528"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000290697"	"00289529"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000290698"	"00289530"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000296607"	"00295439"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000296636"	"00295468"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000336135"	"00334906"	"1"	"03286"	"03286"	"2021-03-02 12:35:25"	"00006"	"2021-04-14 09:22:08"	"SEQ;SEQ-NG"	"DNA"	"WES"	""
"0000415987"	"00414706"	"1"	"00000"	"03840"	"2022-08-02 11:28:48"	""	""	"SEQ-NG"	"DNA;RNA"	"blood"	""
"0000428376"	"00427056"	"1"	"00006"	"00006"	"2022-12-04 12:45:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"custom gene panel"
"0000428377"	"00427057"	"1"	"00006"	"00006"	"2022-12-04 12:45:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"custom gene panel"
"0000428378"	"00427058"	"1"	"00006"	"00006"	"2022-12-04 12:45:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"custom gene panel"
"0000436626"	"00435155"	"1"	"04507"	"04507"	"2023-05-30 12:36:36"	"04507"	"2023-06-05 10:44:11"	"SEQ"	"DNA"	""	""
"0000436627"	"00435156"	"1"	"04507"	"04507"	"2023-05-30 14:39:59"	""	""	"SEQ"	"DNA"	""	""
"0000436635"	"00435161"	"1"	"04507"	"04507"	"2023-06-01 11:51:21"	"04507"	"2023-06-05 14:30:03"	"SEQ"	"DNA"	"Peripheral blood"	""
"0000436637"	"00435163"	"1"	"04507"	"04507"	"2023-06-01 16:37:31"	"04507"	"2023-06-05 15:03:22"	"SSCA"	"DNA"	"skin , peripheral blood leukocytes, spleen"	"jimenaur"
"0000436638"	"00435164"	"1"	"04507"	"04507"	"2023-06-01 16:45:02"	""	""	"SEQ"	"DNA"	""	""
"0000436639"	"00435166"	"1"	"04507"	"04507"	"2023-06-01 17:01:45"	"04507"	"2023-06-05 16:12:41"	"SSCA"	"DNA"	"skin , peripheral blood leukocytes, spleen"	""
"0000436640"	"00435167"	"1"	"04507"	"04507"	"2023-06-01 17:25:11"	""	""	"SEQ"	"DNA"	""	""
"0000436657"	"00435183"	"1"	"04507"	"04507"	"2023-06-05 12:22:25"	""	""	"SEQ"	"DNA"	""	""
"0000436658"	"00435165"	"1"	"04507"	"04507"	"2023-06-05 15:55:44"	""	""	"SSCA"	"DNA"	"skin, peripheral  blood  leukocytes, spleen"	""
"0000436659"	"00435184"	"1"	"04507"	"04507"	"2023-06-05 16:59:44"	""	""	"SSCA"	"DNA"	"skin , peripheral blood leukocytes, spleen"	""
"0000436660"	"00435185"	"1"	"04507"	"04507"	"2023-06-05 17:12:05"	""	""	"SSCA"	"DNA"	"skin , peripheral blood leukocytes, spleen"	""
"0000436661"	"00435186"	"1"	"04507"	"04507"	"2023-06-05 17:18:12"	""	""	"SSCA"	"DNA"	"skin , peripheral blood leukocytes, spleen"	""
"0000436662"	"00435187"	"1"	"04507"	"04507"	"2023-06-05 17:25:53"	""	""	"SSCA"	"DNA"	"skin , peripheral blood leukocytes, spleen"	""
"0000436663"	"00435188"	"1"	"04507"	"04507"	"2023-06-05 17:42:39"	""	""	"SSCA"	"DNA"	"skin , peripheral blood leukocytes, spleen"	""
"0000436664"	"00435189"	"1"	"04507"	"04507"	"2023-06-05 17:59:23"	""	""	"SSCA"	"DNA"	"skin , peripheral blood leukocytes, spleen"	""
"0000436665"	"00435190"	"1"	"04507"	"04507"	"2023-06-05 18:18:35"	""	""	"SSCA"	"DNA"	"skin , peripheral blood leukocytes, spleen"	""
"0000436666"	"00435191"	"1"	"04507"	"04507"	"2023-06-06 09:07:23"	""	""	"SSCA"	"DNA"	"skin , peripheral blood leukocytes, spleen"	""
"0000436668"	"00435193"	"1"	"04507"	"04507"	"2023-06-06 09:58:31"	""	""	"SSCA"	"DNA"	"skin , peripheral blood leukocytes, spleen"	""
"0000436669"	"00435194"	"1"	"04507"	"04507"	"2023-06-06 10:17:37"	""	""	"SSCA"	"DNA"	"skin , peripheral blood leukocytes, spleen"	""
"0000436670"	"00435195"	"1"	"04507"	"04507"	"2023-06-06 10:39:00"	""	""	"SSCA"	"DNA"	"skin , peripheral blood leukocytes, spleen"	""
"0000436671"	"00435196"	"1"	"04507"	"04507"	"2023-06-06 10:58:20"	""	""	"SSCA"	"DNA"	"skin , peripheral blood leukocytes, spleen"	""
"0000436672"	"00435197"	"1"	"04507"	"04507"	"2023-06-06 11:20:06"	""	""	"SSCA"	"DNA"	"skin , peripheral blood leukocytes, spleen"	""
"0000436673"	"00435198"	"1"	"04507"	"04507"	"2023-06-06 11:33:13"	""	""	"SSCA"	"DNA"	"skin , peripheral blood leukocytes, spleen"	""
"0000436674"	"00435199"	"1"	"04507"	"04507"	"2023-06-06 12:54:39"	""	""	"SSCA"	"DNA"	"skin , peripheral blood leukocytes, spleen"	""
"0000436675"	"00435200"	"1"	"04507"	"04507"	"2023-06-06 13:09:02"	""	""	"SSCA"	"DNA"	"skin , peripheral blood leukocytes, spleen"	""
"0000436679"	"00435204"	"1"	"04507"	"04507"	"2023-06-07 15:44:05"	""	""	"SSCA"	"DNA"	"skin , peripheral blood leukocytes, spleen"	""
"0000436680"	"00435205"	"1"	"04507"	"04507"	"2023-06-07 16:07:01"	""	""	"SSCA"	"DNA"	"skin , peripheral blood leukocytes, spleen"	""
"0000436681"	"00435206"	"1"	"04507"	"04507"	"2023-06-07 16:21:46"	""	""	"SSCA"	"DNA"	"skin , peripheral blood leukocytes, spleen"	""
"0000441573"	"00440091"	"1"	"00006"	"00006"	"2023-10-27 16:20:53"	""	""	"SEQ"	"DNA"	""	""
"0000441575"	"00440092"	"1"	"00006"	"00006"	"2023-10-27 16:40:08"	""	""	"SEQ"	"DNA"	""	""
"0000441577"	"00440093"	"1"	"00006"	"00006"	"2023-10-27 16:47:18"	""	""	"SEQ"	"DNA"	""	""
"0000441578"	"00440094"	"1"	"00006"	"00006"	"2023-10-27 16:56:35"	""	""	"SEQ"	"DNA"	""	""
"0000441579"	"00440095"	"1"	"00006"	"00006"	"2023-10-27 17:07:55"	""	""	"SEQ"	"DNA"	""	""
"0000441580"	"00440096"	"1"	"00006"	"00006"	"2023-10-27 17:09:14"	""	""	"SEQ"	"DNA"	""	""
"0000441581"	"00440097"	"1"	"00006"	"00006"	"2023-10-27 17:10:39"	""	""	"SEQ"	"DNA"	""	""
"0000441582"	"00440098"	"1"	"00006"	"00006"	"2023-10-27 18:32:53"	""	""	"SEQ"	"DNA"	""	""
"0000441583"	"00440099"	"1"	"00006"	"00006"	"2023-10-27 19:20:16"	""	""	"SEQ"	"DNA"	""	""
"0000441584"	"00440100"	"1"	"00006"	"00006"	"2023-10-27 19:20:16"	""	""	"SEQ"	"DNA"	""	""
"0000441585"	"00440101"	"1"	"00006"	"00006"	"2023-10-27 19:20:16"	""	""	"SEQ"	"DNA"	""	""
"0000441586"	"00440102"	"1"	"00006"	"00006"	"2023-10-27 19:20:16"	""	""	"SEQ"	"DNA"	""	""
"0000441587"	"00440103"	"1"	"00006"	"00006"	"2023-10-27 19:20:16"	""	""	"SEQ"	"DNA"	""	""
"0000441588"	"00440104"	"1"	"00006"	"00006"	"2023-10-27 19:20:16"	""	""	"SEQ"	"DNA"	""	""
"0000441589"	"00440105"	"1"	"00006"	"00006"	"2023-10-27 19:20:16"	""	""	"SEQ"	"DNA"	""	""
"0000441590"	"00440106"	"1"	"00006"	"00006"	"2023-10-27 19:20:16"	""	""	"SEQ"	"DNA"	""	""
"0000441591"	"00440107"	"1"	"00006"	"00006"	"2023-10-27 19:20:16"	""	""	"SEQ"	"DNA"	""	""
"0000441594"	"00440110"	"1"	"00006"	"00006"	"2023-10-28 09:13:10"	""	""	"SEQ;Southern"	"DNA"	""	""
"0000441595"	"00440111"	"1"	"00006"	"00006"	"2023-10-29 09:03:56"	""	""	"SEQ"	"DNA"	""	""
"0000441596"	"00440112"	"1"	"00006"	"00006"	"2023-10-29 09:03:56"	""	""	"SEQ"	"DNA"	""	""
"0000441597"	"00440113"	"1"	"00006"	"00006"	"2023-10-29 09:03:56"	""	""	"SEQ"	"DNA"	""	""
"0000441598"	"00440114"	"1"	"00006"	"00006"	"2023-10-29 09:03:56"	""	""	"SEQ"	"DNA"	""	""
"0000441599"	"00440115"	"1"	"00006"	"00006"	"2023-10-29 09:03:56"	""	""	"SEQ"	"DNA"	""	""
"0000441600"	"00440116"	"1"	"00006"	"00006"	"2023-10-29 09:03:56"	""	""	"SEQ"	"DNA"	""	""
"0000441601"	"00440117"	"1"	"00006"	"00006"	"2023-10-29 09:03:56"	""	""	"SEQ"	"DNA"	""	""
"0000441602"	"00440118"	"1"	"00006"	"00006"	"2023-10-29 09:03:56"	""	""	"SEQ"	"DNA"	""	""
"0000441603"	"00440119"	"1"	"00006"	"00006"	"2023-10-29 09:03:56"	""	""	"SEQ"	"DNA"	""	""
"0000441604"	"00440120"	"1"	"00006"	"00006"	"2023-10-29 09:03:56"	""	""	"SEQ"	"DNA"	""	""
"0000441605"	"00440121"	"1"	"00006"	"00006"	"2023-10-29 09:30:48"	""	""	"SEQ"	"DNA"	""	""
"0000441606"	"00440122"	"1"	"00006"	"00006"	"2023-10-29 09:30:48"	""	""	"SEQ"	"DNA"	""	""
"0000441607"	"00440123"	"1"	"00006"	"00006"	"2023-10-29 09:30:48"	""	""	"SEQ"	"DNA"	""	""
"0000441608"	"00440124"	"1"	"00006"	"00006"	"2023-10-29 09:30:48"	""	""	"SEQ"	"DNA"	""	""
"0000441609"	"00440125"	"1"	"00006"	"00006"	"2023-10-29 09:30:48"	""	""	"SEQ"	"DNA"	""	""
"0000441610"	"00440126"	"1"	"00006"	"00006"	"2023-10-29 09:30:48"	""	""	"SEQ"	"DNA"	""	""
"0000441611"	"00440127"	"1"	"00006"	"00006"	"2023-10-29 09:30:48"	""	""	"SEQ"	"DNA"	""	""
"0000441612"	"00440128"	"1"	"00006"	"00006"	"2023-10-29 09:58:09"	""	""	"SEQ"	"DNA"	""	""
"0000441613"	"00440129"	"1"	"00006"	"00006"	"2023-10-29 09:58:09"	""	""	"SEQ"	"DNA"	""	""
"0000441614"	"00440130"	"1"	"00006"	"00006"	"2023-10-29 09:58:09"	""	""	"SEQ"	"DNA"	""	""
"0000441615"	"00440131"	"1"	"00006"	"00006"	"2023-10-29 09:58:09"	""	""	"SEQ"	"DNA"	""	""
"0000441616"	"00440132"	"1"	"00006"	"00006"	"2023-10-29 09:58:09"	""	""	"SEQ"	"DNA"	""	""
"0000441617"	"00440133"	"1"	"00006"	"00006"	"2023-10-29 09:58:09"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000441618"	"00440134"	"1"	"00006"	"00006"	"2023-10-29 10:15:18"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000441619"	"00440135"	"1"	"00006"	"00006"	"2023-10-29 10:41:18"	""	""	"RT-PCR;SEQ"	"DNA"	""	""
"0000441620"	"00440136"	"1"	"00006"	"00006"	"2023-10-29 13:39:41"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441621"	"00440137"	"1"	"00006"	"00006"	"2023-10-29 13:39:41"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441622"	"00440138"	"1"	"00006"	"00006"	"2023-10-29 13:39:41"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441623"	"00440139"	"1"	"00006"	"00006"	"2023-10-29 13:39:41"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441624"	"00440140"	"1"	"00006"	"00006"	"2023-10-29 13:39:41"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441625"	"00440141"	"1"	"00006"	"00006"	"2023-10-29 13:39:41"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441626"	"00440142"	"1"	"00006"	"00006"	"2023-10-29 13:39:41"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441627"	"00440143"	"1"	"00006"	"00006"	"2023-10-29 13:39:41"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441628"	"00440144"	"1"	"00006"	"00006"	"2023-10-29 13:39:41"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441629"	"00440145"	"1"	"00006"	"00006"	"2023-10-29 13:39:41"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441630"	"00440146"	"1"	"00006"	"00006"	"2023-10-29 13:39:41"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441631"	"00440147"	"1"	"00006"	"00006"	"2023-10-29 13:39:41"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441632"	"00440148"	"1"	"00006"	"00006"	"2023-10-29 13:39:41"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441633"	"00440149"	"1"	"00006"	"00006"	"2023-10-29 13:39:41"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441634"	"00440150"	"1"	"00006"	"00006"	"2023-10-29 13:39:41"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441635"	"00440151"	"1"	"00006"	"00006"	"2023-10-29 13:39:41"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441636"	"00440152"	"1"	"00006"	"00006"	"2023-10-29 13:39:41"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441637"	"00440153"	"1"	"00006"	"00006"	"2023-10-29 13:39:41"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441638"	"00440154"	"1"	"00006"	"00006"	"2023-10-29 13:47:40"	""	""	"SEQ"	"DNA"	""	""
"0000441639"	"00440155"	"1"	"00006"	"00006"	"2023-10-29 13:55:44"	""	""	"SEQ"	"DNA"	""	""
"0000441640"	"00440156"	"1"	"00006"	"00006"	"2023-10-29 14:01:41"	""	""	"SEQ"	"DNA"	""	""
"0000441641"	"00440157"	"1"	"00006"	"00006"	"2023-10-29 14:01:41"	""	""	"SEQ"	"DNA"	""	""
"0000441642"	"00440158"	"1"	"00006"	"00006"	"2023-10-29 14:01:41"	""	""	"SEQ"	"DNA"	""	""
"0000441643"	"00440159"	"1"	"00006"	"00006"	"2023-10-29 14:38:31"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000441644"	"00440160"	"1"	"00006"	"00006"	"2023-10-29 14:44:48"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000441645"	"00440161"	"1"	"00006"	"00006"	"2023-10-29 14:57:04"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000441646"	"00440162"	"1"	"00006"	"00006"	"2023-10-29 15:05:42"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000441647"	"00440163"	"1"	"00006"	"00006"	"2023-10-29 15:32:07"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000441648"	"00440164"	"1"	"00006"	"00006"	"2023-10-29 15:50:50"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000441649"	"00440165"	"1"	"00006"	"00006"	"2023-10-29 16:02:38"	""	""	"SEQ"	"DNA"	""	""
"0000441650"	"00440166"	"1"	"00006"	"00006"	"2023-10-29 16:02:38"	""	""	"SEQ"	"DNA"	""	""
"0000441651"	"00440167"	"1"	"00006"	"00006"	"2023-10-29 16:02:38"	""	""	"SEQ"	"DNA"	""	""
"0000441652"	"00440168"	"1"	"00006"	"00006"	"2023-10-29 16:02:38"	""	""	"SEQ"	"DNA"	""	""
"0000441653"	"00440169"	"1"	"00006"	"00006"	"2023-10-29 16:16:41"	""	""	"SEQ"	"DNA"	""	""
"0000441654"	"00440170"	"1"	"00006"	"00006"	"2023-10-29 16:23:26"	""	""	"SEQ"	"DNA"	""	""
"0000441655"	"00440171"	"1"	"00006"	"00006"	"2023-10-29 16:30:50"	""	""	"DGGE;SEQ"	"DNA"	""	""
"0000441656"	"00440172"	"1"	"00006"	"00006"	"2023-10-29 20:51:26"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000441657"	"00440173"	"1"	"00006"	"00006"	"2023-10-29 21:30:38"	"00006"	"2023-10-30 16:18:55"	"DGGE;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000441658"	"00440174"	"1"	"00006"	"00006"	"2023-10-29 21:30:38"	""	""	"DGGE;SEQ"	"DNA"	""	""
"0000441659"	"00440175"	"1"	"00006"	"00006"	"2023-10-29 21:30:38"	""	""	"DGGE;SEQ"	"DNA"	""	""
"0000441660"	"00440176"	"1"	"00006"	"00006"	"2023-10-29 21:30:38"	""	""	"DGGE;SEQ"	"DNA"	""	""
"0000441661"	"00440177"	"1"	"00006"	"00006"	"2023-10-29 21:30:38"	""	""	"DGGE;SEQ"	"DNA"	""	""
"0000441662"	"00440178"	"1"	"00006"	"00006"	"2023-10-30 10:19:13"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441663"	"00440179"	"1"	"00006"	"00006"	"2023-10-30 10:19:13"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441664"	"00440180"	"1"	"00006"	"00006"	"2023-10-30 10:19:13"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441665"	"00440181"	"1"	"00006"	"00006"	"2023-10-30 11:08:22"	""	""	"SEQ"	"DNA"	""	""
"0000441666"	"00440182"	"1"	"00006"	"00006"	"2023-10-30 11:22:59"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000441667"	"00440183"	"1"	"00006"	"00006"	"2023-10-30 11:38:01"	""	""	"SEQ"	"DNA"	""	""
"0000441668"	"00440184"	"1"	"00006"	"00006"	"2023-10-30 12:08:26"	""	""	"RFLP;SEQ"	"DNA"	""	""
"0000441669"	"00440185"	"1"	"00006"	"00006"	"2023-10-30 12:20:02"	""	""	"SEQ"	"DNA"	""	""
"0000441670"	"00440186"	"1"	"00006"	"00006"	"2023-10-30 13:44:34"	""	""	"RFLP;SEQ"	"DNA"	""	""
"0000441671"	"00440187"	"1"	"00006"	"00006"	"2023-10-30 13:52:27"	""	""	"RFLP"	"DNA"	""	""
"0000441672"	"00440188"	"1"	"00006"	"00006"	"2023-10-30 13:55:07"	""	""	"RFLP"	"DNA"	""	""
"0000441673"	"00440189"	"1"	"00006"	"00006"	"2023-10-30 13:56:32"	""	""	"RFLP"	"DNA"	""	""
"0000441674"	"00440190"	"1"	"00006"	"00006"	"2023-10-30 13:58:00"	""	""	"RFLP"	"DNA"	""	""
"0000441675"	"00440191"	"1"	"00006"	"00006"	"2023-10-30 13:59:12"	""	""	"RFLP"	"DNA"	""	""
"0000441676"	"00440192"	"1"	"00006"	"00006"	"2023-10-30 14:28:29"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000441677"	"00440193"	"1"	"00006"	"00006"	"2023-10-30 14:34:20"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000441679"	"00440195"	"1"	"00006"	"00006"	"2023-10-30 14:57:49"	""	""	"SEQ;Southern"	"DNA"	""	""
"0000441680"	"00440196"	"1"	"00006"	"00006"	"2023-10-30 15:20:13"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000441681"	"00440197"	"1"	"00006"	"00006"	"2023-10-30 15:24:05"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000441682"	"00440198"	"1"	"00006"	"00006"	"2023-10-30 15:28:04"	"00006"	"2023-10-30 15:57:55"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000441684"	"00440200"	"1"	"00006"	"00006"	"2023-10-30 19:38:36"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000441685"	"00440201"	"1"	"00006"	"00006"	"2023-10-30 19:38:36"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000441686"	"00440202"	"1"	"00006"	"00006"	"2023-10-30 19:38:36"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000441687"	"00440203"	"1"	"00006"	"00006"	"2023-10-30 19:38:36"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000441688"	"00440204"	"1"	"00006"	"00006"	"2023-10-30 19:38:36"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000441689"	"00440205"	"1"	"00006"	"00006"	"2023-10-30 19:38:36"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000441690"	"00440206"	"1"	"00006"	"00006"	"2023-10-30 19:38:36"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000441691"	"00440207"	"1"	"00006"	"00006"	"2023-10-30 19:38:36"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000441692"	"00440208"	"1"	"00006"	"00006"	"2023-10-30 19:38:36"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000441693"	"00440209"	"1"	"00006"	"00006"	"2023-10-30 19:38:36"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000441694"	"00440210"	"1"	"00006"	"00006"	"2023-10-30 19:38:36"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000441695"	"00440211"	"1"	"00006"	"00006"	"2023-10-30 19:38:36"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000441696"	"00440212"	"1"	"00006"	"00006"	"2023-10-30 19:38:36"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000441697"	"00440213"	"1"	"00006"	"00006"	"2023-10-30 19:38:36"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000441698"	"00440214"	"1"	"00006"	"00006"	"2023-10-30 19:38:36"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000441699"	"00440215"	"1"	"00006"	"00006"	"2023-10-30 19:38:36"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000441700"	"00440216"	"1"	"00006"	"00006"	"2023-10-30 19:38:36"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000441701"	"00440217"	"1"	"00006"	"00006"	"2023-10-30 19:38:36"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000441702"	"00440218"	"1"	"00006"	"00006"	"2023-10-30 19:38:36"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000441703"	"00440219"	"1"	"00006"	"00006"	"2023-10-30 19:38:36"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000441704"	"00440220"	"1"	"00006"	"00006"	"2023-10-30 19:38:36"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000441705"	"00440221"	"1"	"00006"	"00006"	"2023-10-30 19:38:36"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000441706"	"00440222"	"1"	"00006"	"00006"	"2023-10-30 19:38:36"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000441707"	"00440223"	"1"	"00006"	"00006"	"2023-10-30 19:38:36"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000441708"	"00440224"	"1"	"00006"	"00006"	"2023-10-30 19:38:36"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000441710"	"00440225"	"1"	"00006"	"00006"	"2023-10-31 14:24:06"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441711"	"00440226"	"1"	"00006"	"00006"	"2023-10-31 14:24:06"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441712"	"00440227"	"1"	"00006"	"00006"	"2023-10-31 14:24:06"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441713"	"00440228"	"1"	"00006"	"00006"	"2023-10-31 14:24:06"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441714"	"00440229"	"1"	"00006"	"00006"	"2023-10-31 14:24:06"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441715"	"00440230"	"1"	"00006"	"00006"	"2023-10-31 14:24:06"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441716"	"00440231"	"1"	"00006"	"00006"	"2023-10-31 14:24:06"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441717"	"00440232"	"1"	"00006"	"00006"	"2023-10-31 14:24:06"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441718"	"00440233"	"1"	"00006"	"00006"	"2023-10-31 14:24:06"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441719"	"00440234"	"1"	"00006"	"00006"	"2023-10-31 14:24:06"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441720"	"00440235"	"1"	"00006"	"00006"	"2023-10-31 14:24:06"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441721"	"00440236"	"1"	"00006"	"00006"	"2023-10-31 14:24:06"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441722"	"00440237"	"1"	"00006"	"00006"	"2023-10-31 14:24:06"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441723"	"00440238"	"1"	"00006"	"00006"	"2023-10-31 14:24:06"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441724"	"00440239"	"1"	"00006"	"00006"	"2023-10-31 14:24:06"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441725"	"00440240"	"1"	"00006"	"00006"	"2023-10-31 14:24:06"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441726"	"00440241"	"1"	"00006"	"00006"	"2023-10-31 14:24:06"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441727"	"00440242"	"1"	"00006"	"00006"	"2023-10-31 14:24:06"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441728"	"00440243"	"1"	"00006"	"00006"	"2023-10-31 14:24:06"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441729"	"00440244"	"1"	"00006"	"00006"	"2023-10-31 14:24:06"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441730"	"00440245"	"1"	"00006"	"00006"	"2023-10-31 14:24:06"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441731"	"00440246"	"1"	"00006"	"00006"	"2023-10-31 14:24:06"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441732"	"00440247"	"1"	"00006"	"00006"	"2023-10-31 14:24:06"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441733"	"00440248"	"1"	"00006"	"00006"	"2023-10-31 14:24:06"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441734"	"00440249"	"1"	"00006"	"00006"	"2023-10-31 14:24:06"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441735"	"00440250"	"1"	"00006"	"00006"	"2023-10-31 14:24:06"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441736"	"00440251"	"1"	"00006"	"00006"	"2023-10-31 14:24:06"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441737"	"00440252"	"1"	"00006"	"00006"	"2023-10-31 14:24:06"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441738"	"00440253"	"1"	"00006"	"00006"	"2023-10-31 14:24:06"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441739"	"00440254"	"1"	"00006"	"00006"	"2023-10-31 14:24:06"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441740"	"00440255"	"1"	"00006"	"00006"	"2023-10-31 14:24:06"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441741"	"00440256"	"1"	"00006"	"00006"	"2023-10-31 14:24:06"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441742"	"00440257"	"1"	"00006"	"00006"	"2023-10-31 14:24:06"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441743"	"00440258"	"1"	"00006"	"00006"	"2023-10-31 14:24:06"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441744"	"00440259"	"1"	"00006"	"00006"	"2023-10-31 14:24:06"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441745"	"00440260"	"1"	"00006"	"00006"	"2023-10-31 14:24:06"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441746"	"00440261"	"1"	"00006"	"00006"	"2023-10-31 14:24:06"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000441780"	"00440295"	"1"	"00006"	"00006"	"2023-10-31 21:14:49"	""	""	"SEQ"	"DNA"	""	""
"0000441781"	"00440296"	"1"	"00006"	"00006"	"2023-10-31 21:14:49"	""	""	"SEQ"	"DNA"	""	""
"0000441782"	"00440297"	"1"	"00006"	"00006"	"2023-10-31 21:14:49"	""	""	"SEQ"	"DNA"	""	""
"0000441783"	"00440298"	"1"	"00006"	"00006"	"2023-10-31 21:14:49"	""	""	"SEQ"	"DNA"	""	""
"0000441784"	"00440299"	"1"	"00006"	"00006"	"2023-10-31 21:14:49"	""	""	"SEQ"	"DNA"	""	""
"0000441785"	"00440300"	"1"	"00006"	"00006"	"2023-10-31 21:14:49"	""	""	"SEQ"	"DNA"	""	""
"0000441786"	"00440301"	"1"	"00006"	"00006"	"2023-10-31 21:14:49"	""	""	"SEQ"	"DNA"	""	""
"0000441787"	"00440302"	"1"	"00006"	"00006"	"2023-10-31 21:14:49"	""	""	"SEQ"	"DNA"	""	""
"0000441788"	"00440303"	"1"	"00006"	"00006"	"2023-10-31 21:14:49"	""	""	"SEQ"	"DNA"	""	""
"0000441789"	"00440304"	"1"	"00006"	"00006"	"2023-10-31 21:14:49"	""	""	"SEQ"	"DNA"	""	""
"0000441790"	"00440305"	"1"	"00006"	"00006"	"2023-10-31 21:14:49"	""	""	"SEQ"	"DNA"	""	""
"0000441791"	"00440306"	"1"	"00006"	"00006"	"2023-10-31 21:14:49"	""	""	"SEQ"	"DNA"	""	""
"0000441792"	"00440307"	"1"	"00006"	"00006"	"2023-10-31 21:14:49"	""	""	"SEQ"	"DNA"	""	""
"0000441793"	"00440308"	"1"	"00006"	"00006"	"2023-10-31 21:14:49"	""	""	"SEQ"	"DNA"	""	""
"0000441794"	"00440309"	"1"	"00006"	"00006"	"2023-10-31 21:14:49"	""	""	"SEQ"	"DNA"	""	""
"0000441795"	"00440310"	"1"	"00006"	"00006"	"2023-10-31 21:14:49"	""	""	"SEQ"	"DNA"	""	""
"0000441796"	"00440311"	"1"	"00006"	"00006"	"2023-10-31 21:14:49"	""	""	"SEQ"	"DNA"	""	""
"0000441797"	"00440312"	"1"	"00006"	"00006"	"2023-10-31 21:14:49"	""	""	"SEQ"	"DNA"	""	""
"0000441798"	"00440313"	"1"	"00006"	"00006"	"2023-10-31 21:14:49"	""	""	"SEQ"	"DNA"	""	""
"0000441799"	"00440314"	"1"	"00006"	"00006"	"2023-10-31 21:14:49"	""	""	"SEQ"	"DNA"	""	""
"0000441800"	"00440315"	"1"	"00006"	"00006"	"2023-10-31 21:14:49"	""	""	"SEQ"	"DNA"	""	""
"0000441801"	"00440316"	"1"	"00006"	"00006"	"2023-10-31 21:14:49"	""	""	"SEQ"	"DNA"	""	""
"0000441802"	"00440317"	"1"	"00006"	"00006"	"2023-10-31 21:14:49"	""	""	"SEQ"	"DNA"	""	""
"0000441803"	"00440318"	"1"	"00006"	"00006"	"2023-10-31 21:14:49"	""	""	"SEQ"	"DNA"	""	""
"0000441804"	"00440319"	"1"	"00006"	"00006"	"2023-10-31 21:14:49"	""	""	"SEQ"	"DNA"	""	""
"0000441805"	"00440320"	"1"	"00006"	"00006"	"2023-10-31 21:14:49"	""	""	"SEQ"	"DNA"	""	""
"0000441806"	"00440321"	"1"	"00006"	"00006"	"2023-10-31 21:14:49"	""	""	"SEQ"	"DNA"	""	""
"0000441807"	"00440322"	"1"	"00006"	"00006"	"2023-10-31 21:14:49"	""	""	"SEQ"	"DNA"	""	""
"0000441808"	"00440323"	"1"	"00006"	"00006"	"2023-10-31 21:14:49"	""	""	"SEQ"	"DNA"	""	""
"0000441809"	"00440324"	"1"	"00006"	"00006"	"2023-10-31 21:14:49"	""	""	"SEQ"	"DNA"	""	""
"0000441810"	"00440325"	"1"	"00006"	"00006"	"2023-10-31 21:14:49"	""	""	"SEQ"	"DNA"	""	""
"0000441811"	"00440326"	"1"	"00006"	"00006"	"2023-10-31 21:14:49"	""	""	"SEQ"	"DNA"	""	""
"0000441812"	"00440327"	"1"	"00006"	"00006"	"2023-10-31 21:14:49"	""	""	"SEQ"	"DNA"	""	""
"0000458897"	"00457276"	"1"	"04769"	"04769"	"2024-11-04 15:45:34"	""	""	"SEQ-NG-I"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 307
"{{screeningid}}"	"{{geneid}}"
"0000000012"	"ACADVL"
"0000000012"	"ADA"
"0000000012"	"AGL"
"0000000012"	"ATP7B"
"0000000012"	"CYP21A2"
"0000000012"	"DPYD"
"0000000012"	"ETFB"
"0000000012"	"GBA"
"0000000012"	"HGSNAT"
"0000000012"	"IGHMBP2"
"0000000012"	"LAMA2"
"0000000012"	"MYO5A"
"0000000012"	"NHLRC1"
"0000000012"	"NPHS1"
"0000000012"	"SERPINA1"
"0000000012"	"SLC26A2"
"0000000023"	"ALPL"
"0000000023"	"ATP7B"
"0000000023"	"CBS"
"0000000023"	"CEP290"
"0000000023"	"COL17A1"
"0000000023"	"CYP21A2"
"0000000023"	"DPYD"
"0000000023"	"GBA"
"0000000023"	"GLB1"
"0000000023"	"NHLRC1"
"0000000023"	"SERPINA1"
"0000000023"	"SLC26A2"
"0000000023"	"SLC3A1"
"0000000023"	"SMPD1"
"0000000048"	"ATP7B"
"0000000048"	"CPT1A"
"0000000048"	"DPYD"
"0000000048"	"ETFB"
"0000000048"	"GAA"
"0000000048"	"GBA"
"0000000048"	"GLB1"
"0000000048"	"IGHMBP2"
"0000000048"	"LAMA2"
"0000000048"	"MEFV"
"0000000048"	"NHLRC1"
"0000000048"	"NPHS1"
"0000000048"	"SERPINA1"
"0000000058"	"ALDH5A1"
"0000000058"	"ATP7B"
"0000000058"	"CFTR"
"0000000058"	"CYP21A2"
"0000000058"	"GBA"
"0000000058"	"HEXB"
"0000000058"	"IGHMBP2"
"0000000058"	"MEFV"
"0000000058"	"MYO5A"
"0000000058"	"NHLRC1"
"0000000058"	"NPHS1"
"0000000058"	"PKHD1"
"0000000058"	"PMM2"
"0000000058"	"SERPINA1"
"0000000058"	"SLC26A2"
"0000000058"	"SMPD1"
"0000000059"	"ATP7B"
"0000000059"	"GBA"
"0000000059"	"GLB1"
"0000000059"	"IKBKAP"
"0000000059"	"MEFV"
"0000000059"	"NPHS1"
"0000000059"	"SERPINA1"
"0000000060"	"ATP7B"
"0000000060"	"CFTR"
"0000000060"	"ENPP1"
"0000000060"	"GBA"
"0000000060"	"GLB1"
"0000000060"	"NHLRC1"
"0000000060"	"NPC2"
"0000000060"	"NPHS1"
"0000000060"	"SMPD1"
"0000080963"	"GBA"
"0000220000"	"DOCK3"
"0000415987"	"HEXA"
"0000436626"	"GBA"
"0000436627"	"GBA"
"0000436635"	"GBA"
"0000436637"	"GBA"
"0000436638"	"GBA"
"0000436639"	"GBA"
"0000436640"	"GBA"
"0000436657"	"GBA"
"0000436658"	"GBA"
"0000436659"	"GBA"
"0000436660"	"GBA"
"0000436661"	"GBA"
"0000436662"	"GBA"
"0000436663"	"GBA"
"0000436664"	"GBA"
"0000436665"	"GBA"
"0000436666"	"GBA"
"0000436668"	"GBA"
"0000436669"	"GBA"
"0000436670"	"GBA"
"0000436671"	"GBA"
"0000436672"	"GBA"
"0000436673"	"GBA"
"0000436674"	"GBA"
"0000436675"	"GBA"
"0000436679"	"GBA"
"0000436680"	"GBA"
"0000436681"	"GBA"
"0000441573"	"GBA"
"0000441575"	"GBA"
"0000441577"	"GBA"
"0000441578"	"GBA"
"0000441579"	"GBA"
"0000441580"	"GBA"
"0000441581"	"GBA"
"0000441582"	"GBA"
"0000441583"	"GBA"
"0000441584"	"GBA"
"0000441585"	"GBA"
"0000441586"	"GBA"
"0000441587"	"GBA"
"0000441588"	"GBA"
"0000441589"	"GBA"
"0000441590"	"GBA"
"0000441591"	"GBA"
"0000441594"	"GBA"
"0000441595"	"GBA"
"0000441596"	"GBA"
"0000441597"	"GBA"
"0000441598"	"GBA"
"0000441599"	"GBA"
"0000441600"	"GBA"
"0000441601"	"GBA"
"0000441602"	"GBA"
"0000441603"	"GBA"
"0000441604"	"GBA"
"0000441605"	"GBA"
"0000441606"	"GBA"
"0000441607"	"GBA"
"0000441608"	"GBA"
"0000441609"	"GBA"
"0000441610"	"GBA"
"0000441611"	"GBA"
"0000441612"	"GBA"
"0000441613"	"GBA"
"0000441614"	"GBA"
"0000441615"	"GBA"
"0000441616"	"GBA"
"0000441617"	"GBA"
"0000441618"	"GBA"
"0000441619"	"GBA"
"0000441620"	"GBA"
"0000441621"	"GBA"
"0000441622"	"GBA"
"0000441623"	"GBA"
"0000441624"	"GBA"
"0000441625"	"GBA"
"0000441626"	"GBA"
"0000441627"	"GBA"
"0000441628"	"GBA"
"0000441629"	"GBA"
"0000441630"	"GBA"
"0000441631"	"GBA"
"0000441632"	"GBA"
"0000441633"	"GBA"
"0000441634"	"GBA"
"0000441635"	"GBA"
"0000441636"	"GBA"
"0000441637"	"GBA"
"0000441638"	"GBA"
"0000441639"	"GBA"
"0000441640"	"GBA"
"0000441641"	"GBA"
"0000441642"	"GBA"
"0000441643"	"GBA"
"0000441644"	"GBA"
"0000441645"	"GBA"
"0000441646"	"GBA"
"0000441647"	"GBA"
"0000441648"	"GBA"
"0000441649"	"GBA"
"0000441650"	"GBA"
"0000441651"	"GBA"
"0000441652"	"GBA"
"0000441653"	"GBA"
"0000441654"	"GBA"
"0000441655"	"GBA"
"0000441656"	"GBA"
"0000441657"	"GBA"
"0000441658"	"GBA"
"0000441659"	"GBA"
"0000441660"	"GBA"
"0000441661"	"GBA"
"0000441662"	"GBA"
"0000441663"	"GBA"
"0000441664"	"GBA"
"0000441665"	"GBA"
"0000441666"	"GBA"
"0000441667"	"GBA"
"0000441668"	"GBA"
"0000441669"	"GBA"
"0000441670"	"GBA"
"0000441671"	"GBA"
"0000441672"	"GBA"
"0000441673"	"GBA"
"0000441674"	"GBA"
"0000441675"	"GBA"
"0000441676"	"GBA"
"0000441677"	"GBA"
"0000441679"	"GBA"
"0000441680"	"GBA"
"0000441681"	"GBA"
"0000441682"	"GBA"
"0000441684"	"GBA"
"0000441685"	"GBA"
"0000441686"	"GBA"
"0000441687"	"GBA"
"0000441688"	"GBA"
"0000441689"	"GBA"
"0000441690"	"GBA"
"0000441691"	"GBA"
"0000441692"	"GBA"
"0000441693"	"GBA"
"0000441694"	"GBA"
"0000441695"	"GBA"
"0000441696"	"GBA"
"0000441697"	"GBA"
"0000441698"	"GBA"
"0000441699"	"GBA"
"0000441700"	"GBA"
"0000441701"	"GBA"
"0000441702"	"GBA"
"0000441703"	"GBA"
"0000441704"	"GBA"
"0000441705"	"GBA"
"0000441706"	"GBA"
"0000441707"	"GBA"
"0000441708"	"GBA"
"0000441710"	"GBA"
"0000441711"	"GBA"
"0000441712"	"GBA"
"0000441713"	"GBA"
"0000441714"	"GBA"
"0000441715"	"GBA"
"0000441716"	"GBA"
"0000441717"	"GBA"
"0000441718"	"GBA"
"0000441719"	"GBA"
"0000441720"	"GBA"
"0000441721"	"GBA"
"0000441722"	"GBA"
"0000441723"	"GBA"
"0000441724"	"GBA"
"0000441725"	"GBA"
"0000441726"	"GBA"
"0000441727"	"GBA"
"0000441728"	"GBA"
"0000441729"	"GBA"
"0000441730"	"GBA"
"0000441731"	"GBA"
"0000441732"	"GBA"
"0000441733"	"GBA"
"0000441734"	"GBA"
"0000441735"	"GBA"
"0000441736"	"GBA"
"0000441737"	"GBA"
"0000441738"	"GBA"
"0000441739"	"GBA"
"0000441740"	"GBA"
"0000441741"	"GBA"
"0000441742"	"GBA"
"0000441743"	"GBA"
"0000441744"	"GBA"
"0000441745"	"GBA"
"0000441746"	"GBA"
"0000441780"	"GBA"
"0000441781"	"GBA"
"0000441782"	"GBA"
"0000441783"	"GBA"
"0000441784"	"GBA"
"0000441785"	"GBA"
"0000441786"	"GBA"
"0000441787"	"GBA"
"0000441788"	"GBA"
"0000441789"	"GBA"
"0000441790"	"GBA"
"0000441791"	"GBA"
"0000441792"	"GBA"
"0000441793"	"GBA"
"0000441794"	"GBA"
"0000441795"	"GBA"
"0000441796"	"GBA"
"0000441797"	"GBA"
"0000441798"	"GBA"
"0000441799"	"GBA"
"0000441800"	"GBA"
"0000441801"	"GBA"
"0000441802"	"GBA"
"0000441803"	"GBA"
"0000441804"	"GBA"
"0000441805"	"GBA"
"0000441806"	"GBA"
"0000441807"	"GBA"
"0000441808"	"GBA"
"0000441809"	"GBA"
"0000441810"	"GBA"
"0000441811"	"GBA"
"0000441812"	"GBA"
"0000458897"	"GBA"


## 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 = 531
"{{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}}"
"0000000080"	"0"	"50"	"1"	"155206060"	"155206060"	"subst"	"0.00025183"	"00002"	"GBA_000001"	"g.155206060C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.155236269C>T"	""	"VUS"	""
"0000000083"	"0"	"50"	"1"	"155210452"	"155210452"	"dup"	"0"	"00002"	"GBA_000004"	"g.155210452dup"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.155240661dup"	""	"VUS"	""
"0000000084"	"0"	"50"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00002"	"GBA_000005"	"g.155205634T>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.155235843T>C"	""	"VUS"	""
"0000000086"	"0"	"50"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00002"	"GBA_000005"	"g.155205634T>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.155235843T>C"	""	"VUS"	""
"0000000087"	"0"	"50"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00002"	"GBA_000005"	"g.155205634T>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.155235843T>C"	""	"VUS"	""
"0000000088"	"0"	"50"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00002"	"GBA_000006"	"g.155205043A>G"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.155235252A>G"	""	"VUS"	""
"0000000089"	"0"	"50"	"1"	"155205499"	"155205499"	"subst"	"0"	"00002"	"GBA_000007"	"g.155205499G>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.155235708G>C"	""	"VUS"	""
"0000000090"	"0"	"50"	"1"	"155210420"	"155210420"	"subst"	"7.32995E-5"	"00002"	"GBA_000008"	"g.155210420C>T"	""	""	""	" INTRON 2, IVS2+1G>A, CHR1:153477044G>A"	""	"Germline"	""	""	""	""	""	"g.155240629C>T"	""	""	""
"0000130049"	"3"	"90"	"1"	"155207311"	"155207311"	"subst"	"0"	"01758"	"GBA_000009"	"g.155207311C>T"	""	"{PMID:Trujillano 2017:27848944}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.155237520C>T"	""	"pathogenic"	"ACMG"
"0000248139"	"0"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"02325"	"GBA_000006"	"g.155205043A>G"	""	""	""	"GBA(NM_000157.3):c.1448T>C (p.(Leu483Pro)), GBA(NM_001005741.2):c.1448T>C (p.L483P), GBA(NM_001005741.3):c.1448T>C (p.L483P), GBA1(NM_001005741.3):..."	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic"	""
"0000250182"	"0"	"10"	"1"	"155207387"	"155207387"	"subst"	"0.00730014"	"02329"	"GBA_000021"	"g.155207387A>T"	""	""	""	"GBA(NM_001005741.3):c.762-18T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.155237596A>T"	""	"benign"	""
"0000254658"	"0"	"30"	"1"	"155210492"	"155210492"	"subst"	"3.66202E-5"	"01943"	"GBA_000029"	"g.155210492A>G"	""	""	""	"GBA(NM_000157.4):c.44T>C (p.L15S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.155240701A>G"	""	"likely benign"	""
"0000254788"	"0"	"30"	"1"	"155207993"	"155207993"	"subst"	"8.12222E-6"	"01943"	"GBA_000022"	"g.155207993A>G"	""	""	""	"GBA(NM_001005741.2):c.693T>C (p.N231=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.155238202A>G"	""	"likely benign"	""
"0000255397"	"0"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"01943"	"GBA_000006"	"g.155205043A>G"	""	""	""	"GBA(NM_000157.3):c.1448T>C (p.(Leu483Pro)), GBA(NM_001005741.2):c.1448T>C (p.L483P), GBA(NM_001005741.3):c.1448T>C (p.L483P), GBA1(NM_001005741.3):..."	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic"	""
"0000281001"	"0"	"30"	"1"	"155206167"	"155206167"	"subst"	"0.0106732"	"02325"	"GBA_000017"	"g.155206167C>T"	""	""	""	"GBA(NM_000157.4):c.1093G>A (p.E365K), GBA(NM_001005741.3):c.1093G>A (p.E365K), GBA1(NM_001005741.3):c.1093G>A (p.E365K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.155236376C>T"	""	"likely benign"	""
"0000281002"	"0"	"30"	"1"	"155206037"	"155206037"	"subst"	"0.00596424"	"02325"	"GBA_000016"	"g.155206037G>A"	""	""	""	"GBA(NM_000157.4):c.1223C>T (p.T408M), GBA(NM_001005741.3):c.1223C>T (p.T408M), GBA1(NM_001005741.3):c.1223C>T (p.T408M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.155236246G>A"	""	"likely benign"	""
"0000283350"	"0"	"10"	"1"	"155206167"	"155206167"	"subst"	"0.0106732"	"02329"	"GBA_000017"	"g.155206167C>T"	""	""	""	"GBA(NM_000157.4):c.1093G>A (p.E365K), GBA(NM_001005741.3):c.1093G>A (p.E365K), GBA1(NM_001005741.3):c.1093G>A (p.E365K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.155236376C>T"	""	"benign"	""
"0000283351"	"0"	"30"	"1"	"155206037"	"155206037"	"subst"	"0.00596424"	"02329"	"GBA_000016"	"g.155206037G>A"	""	""	""	"GBA(NM_000157.4):c.1223C>T (p.T408M), GBA(NM_001005741.3):c.1223C>T (p.T408M), GBA1(NM_001005741.3):c.1223C>T (p.T408M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.155236246G>A"	""	"likely benign"	""
"0000284599"	"0"	"30"	"1"	"155206167"	"155206167"	"subst"	"0.0106732"	"02326"	"GBA_000017"	"g.155206167C>T"	""	""	""	"GBA(NM_000157.4):c.1093G>A (p.E365K), GBA(NM_001005741.3):c.1093G>A (p.E365K), GBA1(NM_001005741.3):c.1093G>A (p.E365K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.155236376C>T"	""	"likely benign"	""
"0000288235"	"0"	"30"	"1"	"155206168"	"155206168"	"subst"	"0.000885344"	"01943"	"GBA_000018"	"g.155206168C>T"	""	""	""	"GBA(NM_001005741.2):c.1092G>A (p.G364=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.155236377C>T"	""	"likely benign"	""
"0000288236"	"0"	"30"	"1"	"155206167"	"155206167"	"subst"	"0.0106732"	"01943"	"GBA_000017"	"g.155206167C>T"	""	""	""	"GBA(NM_000157.4):c.1093G>A (p.E365K), GBA(NM_001005741.3):c.1093G>A (p.E365K), GBA1(NM_001005741.3):c.1093G>A (p.E365K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.155236376C>T"	""	"likely benign"	""
"0000288237"	"0"	"90"	"1"	"155210420"	"155210420"	"subst"	"7.32995E-5"	"01943"	"GBA_000008"	"g.155210420C>T"	""	""	""	"GBA(NM_000157.4):c.115+1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.155240629C>T"	""	"pathogenic"	""
"0000288238"	"0"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"01943"	"GBA_000005"	"g.155205634T>C"	""	""	""	"GBA(NM_000157.3):c.1226A>G (p.(Asn409Ser)), GBA(NM_000157.4):c.1226A>G (p.N409S), GBA1(NM_001005741.3):c.1226A>G (p.N409S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic"	""
"0000288239"	"0"	"90"	"1"	"155205518"	"155205518"	"subst"	"0.000126416"	"01943"	"GBA_000014"	"g.155205518C>G"	""	""	""	"GBA(NM_000157.4):c.1342G>C (p.D448H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.155235727C>G"	""	"pathogenic"	""
"0000288240"	"0"	"30"	"1"	"155205047"	"155205047"	"subst"	"0.000512291"	"01943"	"GBA_000013"	"g.155205047C>T"	""	""	""	"GBA(NM_000157.4):c.1444G>A (p.(Asp482Asn)), GBA(NM_001005741.2):c.1444G>A (p.D482N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.155235256C>T"	""	"likely benign"	""
"0000288241"	"0"	"30"	"1"	"155210490"	"155210490"	"subst"	"2.84826E-5"	"01943"	"GBA_000028"	"g.155210490T>C"	""	""	""	"GBA(NM_000157.4):c.46A>G (p.S16G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.155240699T>C"	""	"likely benign"	""
"0000288242"	"0"	"30"	"1"	"155208422"	"155208422"	"subst"	"0.000662699"	"01943"	"GBA_000023"	"g.155208422G>A"	""	""	""	"GBA(NM_000157.4):c.474C>T (p.I158=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.155238631G>A"	""	"likely benign"	""
"0000288243"	"0"	"30"	"1"	"155210478"	"155210478"	"subst"	"0"	"01943"	"GBA_000027"	"g.155210478T>G"	""	""	""	"GBA(NM_001005741.2):c.58A>C (p.I20L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.155240687T>G"	""	"likely benign"	""
"0000288244"	"0"	"30"	"1"	"155207294"	"155207294"	"subst"	"8.12843E-6"	"01943"	"GBA_000020"	"g.155207294C>A"	""	""	""	"GBA(NM_001005741.2):c.837G>T (p.L279=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.155237503C>A"	""	"likely benign"	""
"0000321024"	"0"	"50"	"1"	"155205016"	"155205016"	"subst"	"2.03282E-5"	"01804"	"GBA_000011"	"g.155205016T>A"	""	""	""	"GBA(NM_000157.3):c.1475A>T (p.(Asp492Val)), GBA1(NM_001005741.3):c.1475A>T (p.D492V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.155235225T>A"	""	"VUS"	""
"0000321025"	"0"	"50"	"1"	"155205017"	"155205017"	"subst"	"2.03283E-5"	"01804"	"GBA_000012"	"g.155205017C>G"	""	""	""	"GBA(NM_000157.3):c.1474G>C (p.(Asp492His)), GBA1(NM_001005741.3):c.1474G>C (p.D492H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.155235226C>G"	""	"VUS"	""
"0000321026"	"0"	"50"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"01804"	"GBA_000006"	"g.155205043A>G"	""	""	""	"GBA(NM_000157.3):c.1448T>C (p.(Leu483Pro)), GBA(NM_001005741.2):c.1448T>C (p.L483P), GBA(NM_001005741.3):c.1448T>C (p.L483P), GBA1(NM_001005741.3):..."	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.155235252A>G"	""	"VUS"	""
"0000321027"	"0"	"30"	"1"	"155207214"	"155207214"	"subst"	"5.2852E-5"	"01804"	"GBA_000019"	"g.155207214G>A"	""	""	""	"GBA(NM_000157.3):c.917C>T (p.(Thr306Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.155237423G>A"	""	"likely benign"	""
"0000321029"	"0"	"30"	"1"	"155217906"	"155217906"	"subst"	"0.000545598"	"01804"	"FAM189B_000002"	"g.155217906G>A"	""	""	""	"FAM189B(NM_001267608.1):c.1714C>T (p.(Arg572Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.155248115G>A"	""	"likely benign"	""
"0000454880"	"11"	"30"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Helbig 2017:28195318}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"likely benign"	""
"0000503546"	"0"	"50"	"1"	"155204797"	"155204797"	"subst"	"0.000547766"	"01943"	"GBA_000031"	"g.155204797G>A"	""	""	""	"GBA(NM_001005741.2):c.1600C>T (p.R534C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.155235006G>A"	""	"VUS"	""
"0000503547"	"0"	"30"	"1"	"155204994"	"155204994"	"subst"	"0.000309029"	"01943"	"GBA_000010"	"g.155204994C>G"	""	""	""	"GBA(NM_001005741.2):c.1497G>C (p.V499=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.155235203C>G"	""	"likely benign"	""
"0000503548"	"0"	"50"	"1"	"155205016"	"155205016"	"subst"	"2.03282E-5"	"02325"	"GBA_000011"	"g.155205016T>A"	""	""	""	"GBA(NM_000157.3):c.1475A>T (p.(Asp492Val)), GBA1(NM_001005741.3):c.1475A>T (p.D492V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.155235225T>A"	""	"VUS"	""
"0000503549"	"0"	"50"	"1"	"155205017"	"155205017"	"subst"	"2.03283E-5"	"02325"	"GBA_000012"	"g.155205017C>G"	""	""	""	"GBA(NM_000157.3):c.1474G>C (p.(Asp492His)), GBA1(NM_001005741.3):c.1474G>C (p.D492H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.155235226C>G"	""	"VUS"	""
"0000503550"	"0"	"30"	"1"	"155205036"	"155205036"	"subst"	"7.72483E-5"	"01943"	"GBA_000032"	"g.155205036T>C"	""	""	""	"GBA(NM_001005741.2):c.1455A>G (p.A485=), GBA(NM_001005741.3):c.1455A>G (p.A485=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.155235245T>C"	""	"likely benign"	""
"0000503552"	"0"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"02325"	"GBA_000005"	"g.155205634T>C"	""	""	""	"GBA(NM_000157.3):c.1226A>G (p.(Asn409Ser)), GBA(NM_000157.4):c.1226A>G (p.N409S), GBA1(NM_001005741.3):c.1226A>G (p.N409S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.155235843T>C"	""	"pathogenic"	""
"0000503555"	"0"	"70"	"1"	"155206172"	"155206172"	"subst"	"0"	"02327"	"GBA_000033"	"g.155206172A>G"	""	""	""	"GBA(NM_001005741.2):c.1088T>C (p.L363P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.155236381A>G"	""	"likely pathogenic"	""
"0000503556"	"0"	"70"	"1"	"155207235"	"155207235"	"subst"	"1.21959E-5"	"02327"	"GBA_000034"	"g.155207235A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.155237444A>G"	""	"likely pathogenic"	""
"0000503557"	"0"	"50"	"1"	"155207329"	"155207329"	"subst"	"0"	"02325"	"GBA_000035"	"g.155207329C>T"	""	""	""	"GBA1(NM_001005741.3):c.802G>A (p.A268T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.155237538C>T"	""	"VUS"	""
"0000503558"	"0"	"50"	"1"	"155207965"	"155207965"	"subst"	"3.24855E-5"	"02327"	"GBA_000036"	"g.155207965C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.155238174C>T"	""	"VUS"	""
"0000503559"	"0"	"30"	"1"	"155207984"	"155207984"	"subst"	"4.87306E-5"	"01943"	"GBA_000037"	"g.155207984C>A"	""	""	""	"GBA(NM_001005741.2):c.702G>T (p.G234=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.155238193C>A"	""	"likely benign"	""
"0000503560"	"0"	"50"	"1"	"155208310"	"155208310"	"subst"	"0"	"01943"	"GBA_000038"	"g.155208310T>G"	""	""	""	"GBA(NM_000157.3):c.586A>C (p.(Lys196Gln)), GBA(NM_001005741.2):c.586A>C (p.K196Q), GBA1(NM_001005741.3):c.586A>C (p.K196Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.155238519T>G"	""	"VUS"	""
"0000503561"	"0"	"90"	"1"	"155208361"	"155208361"	"subst"	"0.000138342"	"01943"	"GBA_000039"	"g.155208361C>G"	""	""	""	"GBA(NM_000157.4):c.535G>C (p.(Asp179His)), GBA(NM_001005741.2):c.535G>C (p.D179H), GBA(NM_001005742.3):c.535G>C (p.D179H), GBA1(NM_001005741.3):c.5..."	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.155238570C>G"	""	"pathogenic"	""
"0000503562"	"0"	"90"	"1"	"155208361"	"155208361"	"subst"	"0.000138342"	"02325"	"GBA_000039"	"g.155208361C>G"	""	""	""	"GBA(NM_000157.4):c.535G>C (p.(Asp179His)), GBA(NM_001005741.2):c.535G>C (p.D179H), GBA(NM_001005742.3):c.535G>C (p.D179H), GBA1(NM_001005741.3):c.5..."	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.155238570C>G"	""	"pathogenic"	""
"0000503563"	"0"	"50"	"1"	"155208361"	"155208361"	"subst"	"0.000138342"	"02326"	"GBA_000039"	"g.155208361C>G"	""	""	""	"GBA(NM_000157.4):c.535G>C (p.(Asp179His)), GBA(NM_001005741.2):c.535G>C (p.D179H), GBA(NM_001005742.3):c.535G>C (p.D179H), GBA1(NM_001005741.3):c.5..."	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.155238570C>G"	""	"VUS"	""
"0000503565"	"0"	"30"	"1"	"155209816"	"155209816"	"subst"	"9.74968E-5"	"01943"	"GBA_000040"	"g.155209816G>A"	""	""	""	"GBA(NM_001005741.2):c.168C>T (p.V56=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.155240025G>A"	""	"likely benign"	""
"0000604844"	"0"	"70"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"02327"	"GBA_000006"	"g.155205043A>G"	""	""	""	"GBA(NM_000157.3):c.1448T>C (p.(Leu483Pro)), GBA(NM_001005741.2):c.1448T>C (p.L483P), GBA(NM_001005741.3):c.1448T>C (p.L483P), GBA1(NM_001005741.3):..."	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.155235252A>G"	""	"likely pathogenic"	""
"0000604846"	"0"	"90"	"1"	"155209725"	"155209725"	"subst"	"2.84449E-5"	"02325"	"GBA_000044"	"g.155209725G>A"	""	""	""	"GBA1(NM_001005741.3):c.259C>T (p.R87W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.155239934G>A"	""	"pathogenic"	""
"0000620405"	"0"	"50"	"1"	"155207266"	"155207266"	"subst"	"0"	"01943"	"GBA_000042"	"g.155207266C>T"	""	""	""	"GBA(NM_001005741.2):c.865G>A (p.G289S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.155237475C>T"	""	"VUS"	""
"0000620406"	"0"	"30"	"1"	"155207999"	"155207999"	"subst"	"3.24968E-5"	"01943"	"GBA_000043"	"g.155207999C>T"	""	""	""	"GBA(NM_001005741.2):c.687G>A (p.A229=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.155238208C>T"	""	"likely benign"	""
"0000647385"	"1"	"50"	"1"	"155206167"	"155206167"	"subst"	"0.0106732"	"03575"	"GBA_000017"	"g.155206167C>T"	"13/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"risk factor; 13 heterozygous, no homozygous; {DB:CLININrs2230288}"	"Germline"	""	"rs2230288"	"0"	""	""	"g.155236376C>T"	""	"VUS"	""
"0000647386"	"1"	"50"	"1"	"155207249"	"155207249"	"subst"	"0.000239828"	"03575"	"GBA_000045"	"g.155207249A>C"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs367968666}"	"Germline"	""	"rs367968666"	"0"	""	""	"g.155237458A>C"	""	"VUS"	""
"0000647387"	"1"	"70"	"1"	"155208006"	"155208006"	"subst"	"7.71987E-5"	"03575"	"GBA_000046"	"g.155208006T>C"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs364897}"	"Germline"	""	"rs364897"	"0"	""	""	"g.155238215T>C"	""	"likely pathogenic"	""
"0000653296"	"1"	"90"	"1"	"155208388"	"155208388"	"subst"	"4.0658E-6"	"03575"	"GBA_000061"	"g.155208388G>A"	"2/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"2 heterozygous, no homozygous; {DB:CLININrs398123530}"	"Germline"	""	"rs398123530"	"0"	""	""	"g.155238597G>A"	""	"pathogenic"	""
"0000653325"	"1"	"90"	"1"	"155204793"	"155204793"	"subst"	"0.000170269"	"03575"	"GBA_000057"	"g.155204793C>T"	"2/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"2 heterozygous, no homozygous; {DB:CLININrs75822236}"	"Germline"	""	"rs75822236"	"0"	""	""	"g.155235002C>T"	""	"pathogenic"	""
"0000675493"	"0"	"50"	"1"	"155206172"	"155206172"	"subst"	"0"	"01943"	"GBA_000033"	"g.155206172A>G"	""	""	""	"GBA(NM_001005741.2):c.1088T>C (p.L363P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000675494"	"0"	"50"	"1"	"155208310"	"155208310"	"subst"	"0"	"01804"	"GBA_000038"	"g.155208310T>G"	""	""	""	"GBA(NM_000157.3):c.586A>C (p.(Lys196Gln)), GBA(NM_001005741.2):c.586A>C (p.K196Q), GBA1(NM_001005741.3):c.586A>C (p.K196Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000675495"	"0"	"30"	"1"	"155209765"	"155209765"	"subst"	"0"	"01943"	"GBA_000047"	"g.155209765A>G"	""	""	""	"GBA(NM_001005741.2):c.219T>C (p.L73=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000716876"	"0"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"02329"	"GBA_000006"	"g.155205043A>G"	""	""	""	"GBA(NM_000157.3):c.1448T>C (p.(Leu483Pro)), GBA(NM_001005741.2):c.1448T>C (p.L483P), GBA(NM_001005741.3):c.1448T>C (p.L483P), GBA1(NM_001005741.3):..."	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000716877"	"0"	"50"	"1"	"155206093"	"155206093"	"subst"	"2.03041E-5"	"02325"	"GBA_000048"	"g.155206093C>G"	""	""	""	"GBA1(NM_001005741.3):c.1167G>C (p.Q389H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000716878"	"0"	"50"	"1"	"155209527"	"155209527"	"subst"	"0"	"02329"	"GBA_000024"	"g.155209527G>T"	""	""	""	"GBA(NM_001005741.3):c.334C>A (p.Q112K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000735211"	"3"	"50"	"1"	"155207921"	"155207921"	"subst"	"0"	"03286"	"GBA_000049"	"g.155207921T>C"	""	"{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}"	""	""	"ACMG PM2, PM3, PP4, BP4; The patient\'s electrolinical phenotype is consistent with previous reports of PME due to pathogenic variant in GBA. The parents are related, consistent with the homozygous splicing variant that is ultra-rare and predicted damaging. The phenotype is highly suggestive of Gaucher disease and in silico tools unanimously predict a splicing effect in GBA. However in the absence of experimental confirmation we remain cautious and predict this finding with moderate confidence."	"Germline"	""	""	"0"	""	""	""	""	"VUS"	"ACMG"
"0000798816"	"0"	"50"	"1"	"155208042"	"155208042"	"subst"	"0"	"01943"	"GBA_000050"	"g.155208042G>T"	""	""	""	"GBA(NM_001005741.2):c.644C>A (p.A215D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000848320"	"0"	"50"	"1"	"155204796"	"155204796"	"subst"	"5.89122E-6"	"02325"	"GBA_000051"	"g.155204796C>T"	""	""	""	"GBA1(NM_001005741.3):c.1601G>A (p.R534H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000848321"	"0"	"50"	"1"	"155207932"	"155207932"	"subst"	"4.06062E-6"	"02327"	"GBA_000052"	"g.155207932A>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000848322"	"0"	"50"	"1"	"155208310"	"155208310"	"subst"	"0"	"02325"	"GBA_000038"	"g.155208310T>G"	""	""	""	"GBA(NM_000157.3):c.586A>C (p.(Lys196Gln)), GBA(NM_001005741.2):c.586A>C (p.K196Q), GBA1(NM_001005741.3):c.586A>C (p.K196Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000857039"	"0"	"30"	"1"	"155206037"	"155206037"	"subst"	"0.00596424"	"01943"	"GBA_000016"	"g.155206037G>A"	""	""	""	"GBA(NM_000157.4):c.1223C>T (p.T408M), GBA(NM_001005741.3):c.1223C>T (p.T408M), GBA1(NM_001005741.3):c.1223C>T (p.T408M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000857040"	"0"	"30"	"1"	"155207249"	"155207249"	"subst"	"0.000239828"	"01943"	"GBA_000045"	"g.155207249A>C"	""	""	""	"GBA(NM_000157.4):c.882T>G (p.H294Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000857041"	"0"	"50"	"1"	"155210881"	"155210882"	"del"	"0"	"02327"	"GBA_000053"	"g.155210881_155210882del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000872414"	"0"	"70"	"1"	"155205479"	"155205479"	"subst"	"0"	"03779"	"GBA_000054"	"g.155205479G>A"	""	""	""	""	""	"CLASSIFICATION record"	""	"rs1478051903"	"0"	""	""	""	""	"likely pathogenic"	""
"0000873929"	"0"	"10"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00000"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Bell 2011:21228398}"	""	"GBA 1:153472258 (hg18) het CM880036"	"non-causative, heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.155235843T>C"	""	"benign"	""
"0000882810"	"0"	"30"	"1"	"155204903"	"155204903"	"subst"	"0.000788139"	"02326"	"GBA_000055"	"g.155204903G>A"	""	""	""	"GBA(NM_001005741.3):c.1506-12C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000882811"	"0"	"50"	"1"	"155206036"	"155206036"	"subst"	"0.000321248"	"02325"	"GBA_000056"	"g.155206036C>T"	""	""	""	"GBA(NM_000157.4):c.1224G>A (p.(Thr408=)), GBA1(NM_001005741.3):c.1224G>A (p.T408=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000906101"	"1"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	"1/73755 controls"	"{PMID:Reiner 2022:36459106}"	""	""	"combination alleles not determined"	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000906102"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	"1/73755 controls"	"{PMID:Reiner 2022:36459106}"	""	""	"combination alleles not determined"	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000906103"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	"1/73755 controls"	"{PMID:Reiner 2022:36459106}"	""	""	"combination alleles not determined"	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000906159"	"0"	"90"	"1"	"155208019"	"155208019"	"subst"	"8.13173E-6"	"00006"	"GBA_000058"	"g.155208019A>G"	"1/73755 controls"	"{PMID:Reiner 2022:36459106}"	""	""	"combination alleles not determined"	"Germline"	""	""	"0"	""	""	"g.155238228A>G"	""	"pathogenic (recessive)"	""
"0000906160"	"0"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	"1/73755 controls"	"{PMID:Reiner 2022:36459106}"	""	""	"combination alleles not determined"	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000906161"	"0"	"90"	"1"	"155204793"	"155204793"	"subst"	"0.000170269"	"00006"	"GBA_000057"	"g.155204793C>T"	"1/73755 controls"	"{PMID:Reiner 2022:36459106}"	""	""	"combination alleles not determined"	"Germline"	""	""	"0"	""	""	"g.155235002C>T"	""	"pathogenic (recessive)"	""
"0000910789"	"0"	"50"	"1"	"155207203"	"155207203"	"subst"	"1.62633E-5"	"02325"	"GBA_000059"	"g.155207203T>C"	""	""	""	"GBA1(NM_001005741.3):c.928A>G (p.S310G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000922962"	"0"	"50"	"1"	"155205016"	"155205017"	"delins"	"0"	"02327"	"GBA_000060"	"g.155205016_155205017delinsAG"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000927678"	"0"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"04507"	"GBA_000005"	"g.155205634T>C"	"110/779"	"{PMID:Sidransky 2009:19846850}"	""	"N370S"	""	"Unknown"	""	""	""	""	""	"g.155235843T>C"	""	"pathogenic (dominant)"	""
"0000927679"	"0"	"70"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"04507"	"GBA_000006"	"g.155205043A>G"	"9/779"	"{PMID:Sidransky 2009:19846850}"	""	"L444P"	""	"Unknown"	""	""	""	""	""	"g.155235252A>G"	""	"likely pathogenic (dominant)"	""
"0000927681"	"0"	"70"	"1"	"155205563"	"155205563"	"subst"	"0"	"04507"	"GBA_000063"	"g.155205563C>R"	"3/779"	"{PMID:Sidransky 2009:19846850}"	""	"V394L"	""	"Unknown"	""	""	""	""	""	"g.155235772C>R"	""	"likely pathogenic"	""
"0000927684"	"3"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"04507"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Bossu 2023:37238417}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000927695"	"0"	"70"	"1"	"155208421"	"155208421"	"subst"	"1.62628E-5"	"04507"	"GBA_000067"	"g.155208421G>A"	""	"{PMID:Moon 2022:36274270}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.155238630G>A"	""	"likely pathogenic (dominant)"	""
"0000927696"	"0"	"70"	"1"	"155204793"	"155204793"	"subst"	"0.000170269"	"04507"	"GBA_000062"	"g.155204793C>T"	"10/779"	"{PMID:Sidransky 2009:19846850}"	""	"R496H"	""	"Unknown"	""	""	"0"	""	""	"g.155235002C>T"	""	"likely pathogenic"	""
"0000927697"	"0"	"50"	"1"	"155210452"	"155210452"	"dup"	"0"	"04507"	"GBA_000004"	"g.155210452dup"	"17/779"	"{PMID:Sidransky 2009:19846850}"	""	"84GG"	""	"Unknown"	""	""	""	""	""	"g.155240661dup"	""	"VUS"	""
"0000927705"	"3"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"04507"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Cormand 1998:9554746}"	""	"L444P"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000927706"	"3"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"04507"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Cormand 1998:9554746}"	""	"N370S"	""	"Unknown"	""	""	""	""	""	"g.155235843T>C"	""	"pathogenic"	""
"0000927707"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"04507"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Cormand 1998:9554746}"	""	"N370S"	""	"Unknown"	""	""	""	""	""	"g.155235843T>C"	""	"pathogenic"	""
"0000927709"	"3"	"90"	"1"	"155205614"	"155205614"	"subst"	"1.2182E-5"	"04507"	"GBA_000065"	"g.155205614C>T"	""	"{PMID:Sarria 1999:10447266}"	""	"G377S"	""	"Germline"	""	""	"0"	""	""	"g.155235823C>T"	""	"pathogenic"	""
"0000927731"	"0"	"70"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"04507"	"GBA_000006"	"g.155205043A>G"	"41/1682"	"{PMID:Sidransky 2009:19846850}"	""	"L444P"	""	"Unknown"	""	""	"0"	""	""	"g.155235252A>G"	""	"likely pathogenic"	""
"0000927732"	"0"	"70"	"1"	"155205518"	"155205518"	"subst"	"0.000126416"	"04507"	"GBA_000014"	"g.155205518C>G"	"3/1682"	"{PMID:Sidransky 2009:19846850}"	""	"D409H"	""	"Unknown"	""	""	"0"	""	""	"g.155235727C>G"	""	"likely pathogenic"	""
"0000927733"	"0"	"70"	"1"	"155208006"	"155208006"	"subst"	"7.71987E-5"	"04507"	"GBA_000046"	"g.155208006T>C"	"4/1682"	"{PMID:Sidransky 2009:19846850}"	""	"N188S"	""	"Unknown"	""	""	"0"	""	""	"g.155238215T>C"	""	"likely pathogenic"	""
"0000927734"	"0"	"70"	"1"	"155205556"	"155205556"	"subst"	"0"	"04507"	"GBA_000072"	"g.155205556T>G"	"5/1682"	"{PMID:Sidransky 2009:19846850}"	""	"N396T"	""	"Unknown"	""	""	"0"	""	""	"g.155235765T>G"	""	"likely pathogenic"	""
"0000927735"	"0"	"70"	"1"	"155208421"	"155208421"	"subst"	"1.62628E-5"	"04507"	"GBA_000067"	"g.155208421G>A"	"16/1682"	"{PMID:Sidransky 2009:19846850}"	""	"R120W"	""	"Unknown"	""	""	"0"	""	""	"g.155238630G>A"	""	"likely pathogenic"	""
"0000927737"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"04507"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Cormand 1998:9554746}"	""	"N370S"	""	"Unknown"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic"	""
"0000927738"	"2"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"04507"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Cormand 1998:9554746}"	""	"L444P"	""	"Unknown"	""	""	""	""	""	"g.155235252A>G"	""	"pathogenic"	""
"0000927740"	"2"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"04507"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Cormand 1998:9554746}"	""	"RecNciI"	""	"Unknown"	""	""	""	""	""	"g.155235252A>G"	""	"pathogenic"	""
"0000927741"	"2"	"90"	"1"	"155205008"	"155205008"	"subst"	"0.000138248"	"04507"	"GBA_000068"	"g.155205008C>G"	""	"{PMID:Cormand 1998:9554746}"	""	"RecNciI"	""	"Unknown"	""	""	""	""	""	"g.155235217C>G"	""	"pathogenic"	""
"0000927743"	"2"	"90"	"1"	"155204994"	"155204994"	"subst"	"0.000309029"	"04507"	"GBA_000010"	"g.155204994C>G"	""	"{PMID:Cormand 1998:9554746}"	""	"RecNciI"	""	"Unknown"	""	""	""	""	""	"g.155235203C>G"	""	"pathogenic"	""
"0000927744"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"04507"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Cormand 1998:9554746}"	""	"N370S"	""	"Unknown"	""	""	""	""	""	"g.155235843T>C"	""	"pathogenic"	""
"0000927745"	"2"	"90"	"1"	"155205571"	"155205571"	"subst"	"0"	"04507"	"GBA_000073"	"g.155205571G>A"	""	"{PMID:Cormand 1998:9554746}"	""	"P391L"	""	"Unknown"	""	""	"0"	""	""	"g.155235780G>A"	""	"pathogenic"	""
"0000927746"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"04507"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Cormand 1998:9554746}"	""	"N370S"	"unknown variant 2nd chromosome"	"Unknown"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic"	""
"0000927748"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"04507"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Cormand 1998:9554746}"	""	"N370S"	"unknown variant 2nd chromosome"	"Unknown"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic"	""
"0000927751"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"04507"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Cormand 1998:9554746}"	""	"N370S"	""	"Unknown"	""	""	""	""	""	"g.155235843T>C"	""	"pathogenic"	""
"0000927752"	"2"	"90"	"1"	"155205039"	"155205040"	"del"	"0"	"04507"	"GBA_000069"	"g.155205039_155205040del"	""	"{PMID:Cormand 1998:9554746}"	""	"1451delAC"	""	"Unknown"	""	""	"0"	""	""	"g.155235248_155235249del"	""	"pathogenic"	""
"0000927753"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"04507"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Sidransky 2009:19846850}"	""	"N370S"	""	"Unknown"	""	""	""	""	""	"g.155235843T>C"	""	"pathogenic"	""
"0000927754"	"2"	"90"	"1"	"155206206"	"155206206"	"subst"	"0"	"04507"	"GBA_000076"	"g.155206206A>G"	""	"{PMID:Cormand 1998:9554746}"	""	"Y313H"	""	"Unknown"	""	""	"0"	""	""	"g.155236415A>G"	""	"pathogenic"	""
"0000927755"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"04507"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Sidransky 2009:19846850}"	""	"N370S"	""	"Unknown"	""	""	""	""	""	"g.155235843T>C"	""	"pathogenic"	""
"0000927756"	"2"	"90"	"1"	"155206162"	"155206162"	"dup"	"0"	"04507"	"GBA_000075"	"g.155206162dup"	""	"{PMID:Sidransky 2009:19846850}"	""	"1098insA"	""	"Unknown"	""	""	"0"	""	""	"g.155236371dup"	""	"pathogenic"	""
"0000927757"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"04507"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Cormand 1998:9554746}"	""	"N370S"	""	"Unknown"	""	""	""	""	""	"g.155235843T>C"	""	"pathogenic"	""
"0000927758"	"2"	"90"	"1"	"155206067"	"155206067"	"subst"	"0"	"04507"	"GBA_000074"	"g.155206067C>T"	""	"{PMID:Cormand 1998:9554746}"	""	"R359Q"	""	"Unknown"	""	""	"0"	""	""	"g.155236276C>T"	""	"pathogenic"	""
"0000927759"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"04507"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Cormand 1998:9554746}"	""	"N370S"	""	"Unknown"	""	""	""	""	""	"g.155235843T>C"	""	"pathogenic"	""
"0000927761"	"2"	"90"	"1"	"155205543"	"155205597"	"del"	"0"	"04507"	"GBA_000071"	"g.155205543_155205597del"	""	"{PMID:Cormand 1998:9554746}"	""	"1263del55"	""	"Unknown"	""	""	""	""	""	"g.155235752_155235806del"	""	"pathogenic"	""
"0000927762"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"04507"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Cormand 1998:9554746}"	""	"N370S"	""	"Unknown"	""	""	""	""	""	"g.155235843T>C"	""	"pathogenic"	""
"0000927763"	"2"	"90"	"1"	"155208397"	"155208397"	"dup"	"0"	"04507"	"GBA_000081"	"g.155208397dup"	""	"{PMID:Cormand 1998:9554746}"	""	"500insT"	""	"Unknown"	""	""	"0"	""	""	"g.155238606dup"	""	"pathogenic"	""
"0000927764"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"04507"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Cormand 1998:9554746}"	""	"N370S"	""	"Unknown"	""	""	""	""	""	"g.155235843T>C"	""	"pathogenic"	""
"0000927765"	"2"	"90"	"1"	"155208379"	"155208379"	"subst"	"4.0657E-6"	"04507"	"GBA_000080"	"g.155208379T>G"	""	"{PMID:Cormand 1998:9554746}"	""	"T134P"	""	"Unknown"	""	""	"0"	""	""	"g.155238588T>G"	""	"pathogenic"	""
"0000927766"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"04507"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Cormand 1998:9554746}"	""	"N370S"	""	"Unknown"	""	""	""	""	""	"g.155235843T>C"	""	"pathogenic"	""
"0000927767"	"2"	"90"	"1"	"155210428"	"155210428"	"subst"	"4.07073E-6"	"04507"	"GBA_000083"	"g.155210428C>T"	""	"{PMID:Cormand 1998:9554746}"	""	"W(-4)X"	"Generates a premature stop codon"	"Unknown"	""	""	""	""	""	"g.155240637C>T"	""	"pathogenic"	""
"0000927768"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"04507"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Cormand 1998:9554746}"	""	"N370S"	""	"Unknown"	""	""	""	""	""	"g.155235843T>C"	""	"pathogenic"	""
"0000927769"	"2"	"50"	"1"	"155208441"	"155208441"	"subst"	"0"	"04507"	"GBA_000082"	"g.155208441C>T"	""	"{PMID:Cormand 1998:9554746}"	"jimenaur"	"G113E"	""	"Unknown"	""	""	"0"	""	""	"g.155238650C>T"	""	"VUS"	""
"0000927770"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"04507"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Cormand 1998:9554746}"	""	"N370S"	""	"Unknown"	""	""	""	""	""	"g.155235843T>C"	""	"pathogenic"	""
"0000927771"	"0"	"50"	"1"	"155207965"	"155207965"	"subst"	"3.24855E-5"	"04507"	"GBA_000036"	"g.155207965C>T"	""	"{PMID:Cormand 1998:9554746}"	""	"G202R"	""	"Unknown"	""	""	"0"	""	""	"g.155238174C>T"	""	"VUS"	""
"0000927772"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"04507"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Cormand 1998:9554746}"	""	"N370S"	""	"Unknown"	""	""	""	""	""	"g.155235843T>C"	""	"pathogenic"	""
"0000927773"	"2"	"90"	"1"	"155208307"	"155208307"	"subst"	"0"	"04507"	"GBA_000084"	"g.155208307C>A"	""	"{PMID:Cormand 1998:9554746}"	""	"IVS5+1G>T"	""	"Unknown"	""	""	"0"	""	""	"g.155238516C>A"	""	"pathogenic"	""
"0000927774"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"04507"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Cormand 1998:9554746}"	""	"N370S"	""	"Unknown"	""	""	""	""	""	"g.155235843T>C"	""	"pathogenic"	""
"0000927775"	"2"	"50"	"1"	"155207985"	"155207985"	"subst"	"4.06088E-6"	"04507"	"GBA_000078"	"g.155207985C>T"	""	"{PMID:Cormand 1998:9554746}"	""	"G195E"	""	"Unknown"	""	""	"0"	""	""	"g.155238194C>T"	""	"VUS"	""
"0000927776"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"04507"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Cormand 1998:9554746}"	""	"N370S"	""	"Unknown"	""	""	""	""	""	"g.155235843T>C"	""	"pathogenic"	""
"0000927777"	"2"	"50"	"1"	"155205509"	"155205509"	"subst"	"0"	"04507"	"GBA_000070"	"g.155205509A>G"	""	"{PMID:Cormand 1998:9554746}"	""	"Y412H"	""	"Unknown"	""	""	"0"	""	""	"g.155235718A>G"	""	"VUS"	""
"0000927782"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"04507"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Cormand 1998:9554746}"	""	"N370S"	""	"Unknown"	""	""	""	""	""	"g.155235843T>C"	""	"pathogenic"	""
"0000927783"	"2"	"90"	"1"	"155207245"	"155207245"	"subst"	"0"	"04507"	"GBA_000077"	"g.155207245G>A"	""	"{PMID:Cormand 1998:9554746}"	""	"R257X"	"Generates a premature stop codon"	"Unknown"	""	""	"0"	""	""	"g.155237454G>A"	""	"pathogenic"	""
"0000927784"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"04507"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Cormand 1998:9554746}"	""	"N370S"	""	"Unknown"	""	""	""	""	""	"g.155235843T>C"	""	"pathogenic"	""
"0000927785"	"2"	"90"	"1"	"155208064"	"155208064"	"subst"	"0"	"04507"	"GBA_000079"	"g.155208064G>A"	""	"{PMID:Cormand 1998:9554746}"	""	"Q169X"	""	"Unknown"	""	""	"0"	""	""	"g.155238273G>A"	""	"pathogenic"	""
"0000927786"	"1"	"90"	"1"	"155205518"	"155205518"	"subst"	"0.000126416"	"04507"	"GBA_000014"	"g.155205518C>G"	""	"{PMID:Cormand 1998:9554746}"	""	"D409H"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.155235727C>G"	""	"pathogenic (recessive)"	""
"0000927787"	"2"	"70"	"1"	"155206167"	"155206167"	"subst"	"0.0106732"	"04507"	"GBA_000017"	"g.155206167C>T"	""	"{PMID:Cormand 1998:9554746}"	""	"E326K"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.155236376C>T"	""	"pathogenic (recessive)"	""
"0000928023"	"0"	"30"	"1"	"155205036"	"155205036"	"subst"	"7.72483E-5"	"02326"	"GBA_000032"	"g.155205036T>C"	""	""	""	"GBA(NM_001005741.2):c.1455A>G (p.A485=), GBA(NM_001005741.3):c.1455A>G (p.A485=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000939323"	"3"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Latham 1991:1899336}"	""	"6433C"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939324"	"3"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Latham 1991:1899336}"	""	"6433C"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939325"	"2"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Latham 1991:1899336}"	""	"6433C"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939326"	"1"	"90"	"1"	"155206052"	"155206052"	"subst"	"4.06276E-6"	"00006"	"GBA_000085"	"g.155206052C>G"	""	"{PMID:Latham 1991:1899336}"	""	"5424C"	""	"Germline"	""	""	"0"	""	""	":g.155236261C>"	""	"pathogenic (recessive)"	""
"0000939327"	"3"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Latham 1991:1899336}"	""	"6433C"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939328"	"2"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Latham 1991:1899336}"	""	"6433C"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939329"	"1"	"90"	"1"	"155206207"	"155206207"	"subst"	"0"	"00006"	"GBA_000086"	"g.155206207C>A"	""	"{PMID:Latham 1991:1899336}"	""	"5269T"	""	"Germline"	""	""	"0"	""	""	"g.155236416C>A"	""	"pathogenic (recessive)"	""
"0000939330"	"1"	"90"	"1"	"155206217"	"155206217"	"subst"	"0"	"00006"	"GBA_000087"	"g.155206217G>A"	""	"{PMID:Latham 1991:1899336}"	""	"5259T"	""	"Germline"	""	""	"0"	""	""	"g.155236426G>A"	""	"pathogenic (recessive)"	""
"0000939331"	"2"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Latham 1991:1899336}"	""	"5841G"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939332"	"2"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Latham 1991:1899336}"	""	"5841G"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939333"	"2"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Latham 1991:1899336}"	""	"6433C"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939334"	"2"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Latham 1991:1899336}"	""	"6433C"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939335"	"1"	"90"	"1"	"155208310"	"155208310"	"subst"	"0"	"00006"	"GBA_000038"	"g.155208310T>G"	""	"{PMID:Latham 1991:1899336}"	""	"3170C"	""	"Germline"	""	""	"0"	""	""	"g.155238519T>G"	""	"pathogenic (recessive)"	""
"0000939336"	"1"	"90"	"1"	"155205517"	"155205517"	"subst"	"0"	"00006"	"GBA_000088"	"g.155205517T>A"	""	"{PMID:Latham 1991:1899336}"	""	"5958T"	""	"Germline"	""	""	"0"	""	""	"g.155235726T>A"	""	"pathogenic (recessive)"	""
"0000939337"	"1"	"90"	"1"	"155207932"	"155208420"	"delins"	"0"	"00006"	"GBA_000089"	"g.155207932_155208420delins155186655_155187144del"	""	"{PMID:Latham 1991:1899336}"	""	"3059T;3461C;3475G;3483G;3497C;3515A;3548A"	"likely copied from GBA pseudogene"	"Germline"	""	""	"0"	""	""	"g.155238141_155238630delins155216864_155217353"	""	"pathogenic (recessive)"	""
"0000939338"	"1"	"90"	"1"	"155205025"	"155205044"	"delins"	"0"	"00006"	"GBA_000090"	"g.155205025_155205044delinsCA"	""	"{PMID:Uchiyama 1994:7981693}"	""	"1447_1466del20insTG"	""	"Germline"	""	""	"0"	""	""	"g.155235234_155235253delinsCA"	""	"pathogenic (recessive)"	""
"0000939339"	"2"	"90"	"1"	"155205043"	"155205043"	"subst"	"8.16607E-6"	"00006"	"GBA_000091"	"g.155205043A>C"	""	"{PMID:Uchiyama 1994:7981693}"	"NciI+"	"L444R"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>C"	""	"pathogenic (recessive)"	""
"0000939340"	"1"	"90"	"1"	"155210464"	"155210464"	"del"	"0"	"00006"	"GBA_000126"	"g.155210464del"	""	"{PMID:Beutler 1993:8432537}"	"AluI+"	"72delC"	"no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.155240673del"	""	"pathogenic (recessive)"	""
"0000939341"	"3"	"90"	"1"	"155208415"	"155208415"	"subst"	"0"	"00006"	"GBA_000122"	"g.155208415G>A"	""	"{PMID:Beutler 1993:8432537}"	"KpnI-"	"P122S"	""	"Germline"	""	""	"0"	""	""	"g.155238624G>A"	""	"pathogenic (recessive)"	""
"0000939342"	"1"	"90"	"1"	"155207935"	"155207935"	"subst"	"4.06062E-6"	"00006"	"GBA_000119"	"g.155207935A>G"	""	"{PMID:Beutler 1993:8432537}"	"DraIII+"	"Y212H"	""	"Germline"	""	""	"0"	""	""	"g.155238144A>G"	""	"pathogenic (recessive)"	""
"0000939343"	"1"	"90"	"1"	"155204848"	"155204848"	"subst"	"0"	"00006"	"GBA_000110"	"g.155204848C>T"	""	"{PMID:Beutler 1993:8432537}"	"AluI+"	"G478S"	""	"Germline"	""	""	"0"	""	""	"g.155235057C>T"	""	"pathogenic (recessive)"	""
"0000939344"	"1"	"90"	"1"	"155204793"	"155204793"	"subst"	"0.000170269"	"00006"	"GBA_000057"	"g.155204793C>T"	""	"{PMID:Beutler 1993:8432537}"	"HphI+"	"R496H"	""	"Germline"	""	""	"0"	""	""	"g.155235002C>T"	""	"pathogenic (recessive)"	""
"0000939345"	"1"	"90"	"1"	"155204793"	"155204793"	"subst"	"0.000170269"	"00006"	"GBA_000057"	"g.155204793C>T"	""	"{PMID:Beutler 1993:8432537}"	"HphI+"	"R496H"	""	"Germline"	""	""	"0"	""	""	"g.155235002C>T"	""	"pathogenic (recessive)"	""
"0000939346"	"1"	"90"	"1"	"155204793"	"155204793"	"subst"	"0.000170269"	"00006"	"GBA_000057"	"g.155204793C>T"	""	"{PMID:Beutler 1993:8432537}"	"HphI+"	"R496H"	""	"Germline"	""	""	"0"	""	""	"g.155235002C>T"	""	"pathogenic (recessive)"	""
"0000939347"	"1"	"90"	"1"	"155204793"	"155204793"	"subst"	"0.000170269"	"00006"	"GBA_000057"	"g.155204793C>T"	""	"{PMID:Beutler 1993:8432537}"	"HphI+"	"R496H"	""	"Germline"	""	""	"0"	""	""	"g.155235002C>T"	""	"pathogenic (recessive)"	""
"0000939348"	"1"	"90"	"1"	"155205543"	"155205597"	"del"	"0"	"00006"	"GBA_000071"	"g.155205543_155205597del"	""	"{PMID:Beutler 1993:8432537}"	"SalI-"	"1263_1317del (5879-5933del)"	""	"Germline"	""	""	"0"	""	""	"g.155235752_155235806del"	""	"pathogenic (recessive)"	""
"0000939349"	"2"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Beutler 1993:8432537}"	""	"1226G"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939350"	"2"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Beutler 1993:8432537}"	""	"1226G"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939351"	"2"	"90"	"1"	"155210452"	"155210452"	"dup"	"0"	"00006"	"GBA_000004"	"g.155210452dup"	""	"{PMID:Beutler 1993:8432537}"	""	"84GG"	""	"Germline"	""	""	"0"	""	""	"g.155240661dup"	""	"pathogenic (recessive)"	""
"0000939352"	"2"	"90"	"1"	"155210452"	"155210452"	"dup"	"0"	"00006"	"GBA_000004"	"g.155210452dup"	""	"{PMID:Beutler 1993:8432537}"	""	"84GG"	""	"Germline"	""	""	"0"	""	""	"g.155240661dup"	""	"pathogenic (recessive)"	""
"0000939353"	"2"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Beutler 1993:8432537}"	""	"1226G"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939354"	"2"	"90"	"1"	"155210452"	"155210452"	"dup"	"0"	"00006"	"GBA_000004"	"g.155210452dup"	""	"{PMID:Beutler 1993:8432537}"	""	"84GG"	""	"Germline"	""	""	"0"	""	""	"g.155240661dup"	""	"pathogenic (recessive)"	""
"0000939355"	"2"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Beutler 1993:8432537}"	""	"1226G"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939360"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Zimran 1990:2295698}"	""	"1226G"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939361"	"2"	"90"	"1"	"155184417"	"155205043"	"del"	"0"	"00006"	"GBA_000092"	"g.155184417_155205043del"	""	"{PMID:Zimran 1990:2295698}"	""	"1448C;1483C;1497C;1703A"	"deletion gives fusion gene GBAP1::GBA"	"Germline"	""	""	"0"	""	""	"g.155214626_155235252del"	""	"pathogenic (recessive)"	""
"0000939362"	"3"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	"152/200 chromosomes GD"	"{PMID:Beutler 1991:1961718}, {PMID:Beutler 1992:1558964}"	""	"1226G/1226G"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939363"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	"152/200 chromosomes GD"	"{PMID:Beutler 1991:1961718}, {PMID:Beutler 1992:1558964}"	""	"1226G/84GG"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939364"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	"152/200 chromosomes GD"	"{PMID:Beutler 1991:1961718}, {PMID:Beutler 1992:1558964}"	""	"1226G/IVS2+1G>A"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939365"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	"152/200 chromosomes GD"	"{PMID:Beutler 1991:1961718}, {PMID:Beutler 1992:1558964}"	""	"1226G/1448C"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939366"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	"152/200 chromosomes GD"	"{PMID:Beutler 1991:1961718}, {PMID:Beutler 1992:1558964}"	""	"1226G/1297T"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939367"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	"152/200 chromosomes GD"	"{PMID:Beutler 1991:1961718}, {PMID:Beutler 1992:1558964}"	""	"1226G/XOVR"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939368"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	"152/200 chromosomes GD"	"{PMID:Beutler 1991:1961718}, {PMID:Beutler 1992:1558964}"	""	"1226G/751C"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939369"	"1"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	"4/200 chromosomes GD"	"{PMID:Beutler 1991:1961718}, {PMID:Beutler 1992:1558964}"	""	"1448C/1504T"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939370"	"1"	"90"	"1"	"155204793"	"155204793"	"subst"	"0.000170269"	"00006"	"GBA_000057"	"g.155204793C>T"	"1/200 chromosomes GD"	"{PMID:Beutler 1991:1961718}, {PMID:Beutler 1992:1558964}"	""	"1604A/84GG"	""	"Germline"	""	""	"0"	""	""	"g.155235002C>T"	""	"pathogenic (recessive)"	""
"0000939371"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	"152/200 chromosomes GD"	"{PMID:Beutler 1991:1961718}, {PMID:Beutler 1992:1558964}"	""	"1226G/?"	"no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939372"	"2"	"90"	"1"	"155210452"	"155210452"	"dup"	"0"	"00006"	"GBA_000004"	"g.155210452dup"	"26/200 chromosomes GD"	"{PMID:Beutler 1991:1961718}, {PMID:Beutler 1992:1558964}"	""	"1226G/84GG"	""	"Germline"	""	""	"0"	""	""	"g.155240661dup"	""	"pathogenic (recessive)"	""
"0000939373"	"2"	"90"	"1"	"155210420"	"155210420"	"subst"	"7.32995E-5"	"00006"	"GBA_000008"	"g.155210420C>T"	"5/200 chromosomes GD"	"{PMID:Beutler 1991:1961718}, {PMID:Beutler 1992:1558964}"	""	"1226G/IVS2+1G>A"	""	"Germline"	""	""	"0"	""	""	"g.155240629C>T"	""	"pathogenic (recessive)"	""
"0000939374"	"2"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	"4/200 chromosomes GD"	"{PMID:Beutler 1991:1961718}, {PMID:Beutler 1992:1558964}"	""	"1226G/1448C"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939375"	"2"	"90"	"1"	"155205563"	"155205563"	"subst"	"2.84266E-5"	"00006"	"GBA_000116"	"g.155205563C>A"	"3/200 chromosomes GD"	"{PMID:Beutler 1991:1961718}, {PMID:Beutler 1992:1558964}"	""	"1226G/1297T"	""	"Germline"	""	""	"0"	""	""	"g.155235772C>A"	""	"pathogenic (recessive)"	""
"0000939376"	"2"	"90"	"1"	"155184417"	"155205043"	"del"	"0"	"00006"	"GBA_000092"	"g.155184417_155205043del"	"1/200 chromosomes GD"	"{PMID:Beutler 1991:1961718}, {PMID:Beutler 1992:1558964}"	""	"1226G/XOVR"	""	"Germline"	""	""	"0"	""	""	"g.155214626_155235252del"	""	"pathogenic (recessive)"	""
"0000939377"	"2"	"90"	"1"	"155207935"	"155207935"	"subst"	"4.06062E-6"	"00006"	"GBA_000119"	"g.155207935A>G"	"1/200 chromosomes GD"	"{PMID:Beutler 1991:1961718}, {PMID:Beutler 1992:1558964}"	""	"1226G/751C"	""	"Germline"	""	""	"0"	""	""	"g.155238144A>G"	""	"pathogenic (recessive)"	""
"0000939378"	"2"	"90"	"1"	"155204987"	"155204987"	"subst"	"7.31826E-5"	"00006"	"GBA_000101"	"g.155204987G>A"	"1/200 chromosomes GD"	"{PMID:Beutler 1991:1961718}, {PMID:Beutler 1992:1558964}"	""	"1448C/1504T"	""	"Germline"	""	""	"0"	""	""	"g.155235196G>A"	""	"pathogenic (recessive)"	""
"0000939379"	"2"	"90"	"1"	"155210452"	"155210452"	"dup"	"0"	"00006"	"GBA_000004"	"g.155210452dup"	"26/200 chromosomes GD"	"{PMID:Beutler 1991:1961718}, {PMID:Beutler 1992:1558964}"	""	"1604A/84GG"	""	"Germline"	""	""	"0"	""	""	"g.155240661dup"	""	"pathogenic (recessive)"	""
"0000939380"	"1"	"90"	"1"	"155209730"	"155209730"	"subst"	"4.06303E-6"	"00006"	"GBA_000123"	"g.155209730C>T"	""	"{PMID:Kim 1996:8829654}"	""	"G46E"	""	"Germline"	""	""	"0"	""	""	"g.155239939C>T"	""	"pathogenic (recessive)"	""
"0000939381"	"1"	"90"	"1"	"155209824"	"155209824"	"subst"	"0"	"00006"	"GBA_000125"	"g.155209824C>A"	""	"{PMID:Kim 1996:8829654}"	""	"V15L"	""	"Germline"	""	""	"0"	""	""	"g.155240033C>A"	""	"pathogenic (recessive)"	""
"0000939382"	"3"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Kim 1996:8829654}"	""	"L444P"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939383"	"1"	"90"	"1"	"155209730"	"155209730"	"subst"	"4.06303E-6"	"00006"	"GBA_000123"	"g.155209730C>T"	""	"{PMID:Kim 1996:8829654}"	""	"G46E"	""	"Germline"	""	""	"0"	""	""	"g.155239939C>T"	""	"pathogenic (recessive)"	""
"0000939384"	"3"	"90"	"1"	"155208006"	"155208006"	"subst"	"7.71987E-5"	"00006"	"GBA_000046"	"g.155208006T>C"	""	"{PMID:Kim 1996:8829654}"	""	"N188S"	""	"Germline"	""	""	"0"	""	""	"g.155238215T>C"	""	"pathogenic (recessive)"	""
"0000939385"	"1"	"90"	"1"	"155208006"	"155208006"	"subst"	"7.71987E-5"	"00006"	"GBA_000046"	"g.155208006T>C"	""	"{PMID:Kim 1996:8829654}"	""	"N188S"	""	"Germline"	""	""	"0"	""	""	"g.155238215T>C"	""	"pathogenic (recessive)"	""
"0000939386"	"1"	"90"	"1"	"155208006"	"155208006"	"subst"	"7.71987E-5"	"00006"	"GBA_000046"	"g.155208006T>C"	""	"{PMID:Kim 1996:8829654}"	""	"N188S"	""	"Germline"	""	""	"0"	""	""	"g.155238215T>C"	""	"pathogenic (recessive)"	""
"0000939387"	"2"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Kim 1996:8829654}"	""	"L144P"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939388"	"2"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Kim 1996:8829654}"	""	"L144P"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939389"	"2"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Kim 1996:8829654}"	""	"L144P"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939390"	"2"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Kim 1996:8829654}"	""	"L144P"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939391"	"2"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Kim 1996:8829654}"	""	"L144P"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939392"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Beutler 1995:7655857}"	""	"1226G"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939393"	"1"	"90"	"1"	"155209725"	"155209725"	"subst"	"2.84449E-5"	"00006"	"GBA_000044"	"g.155209725G>A"	""	"{PMID:Beutler 1995:7655857}"	""	"259T"	""	"Germline"	""	""	"0"	""	""	"g.155239934G>A"	""	"pathogenic (recessive)"	""
"0000939394"	"3"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Beutler 1995:7655857}"	""	"1226G"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939395"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Beutler 1995:7655857}"	""	"1226G"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939396"	"3"	"90"	"1"	"155204796"	"155204796"	"subst"	"5.89122E-6"	"00006"	"GBA_000051"	"g.155204796C>T"	""	"{PMID:Beutler 1995:7655857}"	""	"1604A"	""	"Germline"	""	""	"0"	""	""	"g.155235005C>T"	""	"pathogenic (recessive)"	""
"0000939397"	"1"	"90"	"1"	"155209725"	"155209725"	"subst"	"2.84449E-5"	"00006"	"GBA_000044"	"g.155209725G>A"	""	"{PMID:Beutler 1995:7655857}"	""	"259T"	"no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.155239934G>A"	""	"pathogenic (recessive)"	""
"0000939398"	"1"	"90"	"1"	"155209739"	"155209739"	"subst"	"4.06233E-6"	"00006"	"GBA_000124"	"g.155209739G>A"	""	"{PMID:Beutler 1995:7655857}"	""	"245T"	""	"Germline"	""	""	"0"	""	""	"g.155239948G>A"	""	"pathogenic (recessive)"	""
"0000939399"	"2"	"90"	"1"	"155205043"	"155205043"	"subst"	"8.16607E-6"	"00006"	"GBA_000091"	"g.155205043A>C"	""	"{PMID:Beutler 1995:7655857}"	""	"1448G"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>C"	""	"pathogenic (recessive)"	""
"0000939400"	"2"	"90"	"1"	"155208051"	"155208051"	"subst"	"0"	"00006"	"GBA_000121"	"g.155208051G>C"	""	"{PMID:Beutler 1995:7655857}"	""	"635G"	""	"Germline"	""	""	"0"	""	""	"g.155238260G>C"	""	"pathogenic (recessive)"	""
"0000939401"	"2"	"90"	"1"	"155207218"	"155207218"	"del"	"0"	"00006"	"GBA_000118"	"g.155207218del"	""	"{PMID:Beutler 1995:7655857}"	""	"914Cdel"	""	"Germline"	""	""	"0"	""	""	"g.155237427del"	""	"pathogenic (recessive)"	""
"0000939402"	"2"	"90"	"1"	"155204984"	"155204984"	"subst"	"0"	"00006"	"GBA_000112"	"g.155204984A>C"	""	"{PMID:Beutler 1995:7655857}"	""	"IVS10+2G"	""	"Germline"	""	""	"0"	""	""	"g.155235193A>C"	""	"pathogenic (recessive)"	""
"0000939403"	"11"	"90"	"1"	"155208310"	"155208310"	"subst"	"0"	"00006"	"GBA_000038"	"g.155208310T>G"	""	"{PMID:Eyal 1991:1864608}"	""	"3170A>C (Lys157Gln)"	""	"Germline"	"yes"	""	"0"	""	""	"g.155238519T>G"	""	"pathogenic (recessive)"	""
"0000939404"	"21"	"70"	"1"	"155208361"	"155208361"	"subst"	"0.000138342"	"00006"	"GBA_000039"	"g.155208361C>G"	""	"{PMID:Eyal 1991:1864608}"	""	"3119G>C(Asp140His);5309G>A(Glu326Lys)"	""	"Germline"	"yes"	""	"0"	""	""	"g.155238570C>G"	""	"VUS"	""
"0000939405"	"21"	"70"	"1"	"155206167"	"155206167"	"subst"	"0.0106732"	"00006"	"GBA_000017"	"g.155206167C>T"	""	"{PMID:Eyal 1991:1864608}"	""	"3119G>C(Asp140His);5309G>A(Glu326Lys)"	""	"Germline"	"yes"	""	"0"	""	""	"g.155236376C>T"	""	"VUS"	""
"0000939406"	"1"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Choy 1991:1776640}, {PMID:Choy 1995:7627192}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939407"	"2"	"90"	"1"	"155208037"	"155208037"	"subst"	"0"	"00006"	"GBA_000093"	"g.155208037G>A"	""	"{PMID:Choy 1995:7627192}"	""	"Pro178Ser"	""	"Germline"	""	""	"0"	""	""	"g.155238246G>A"	""	"pathogenic (recessive)"	""
"0000939408"	"1"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	"41/94 chromosomes GD"	"{PMID:Ida 1997:9061570}"	""	"L444P"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939409"	"1"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	"41/94 chromosomes GD"	"{PMID:Ida 1997:9061570}"	""	"L444P"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939410"	"3"	"90"	"1"	"155206047"	"155206047"	"subst"	"0"	"00006"	"GBA_000117"	"g.155206047T>C"	"3/94 chromosomes GD"	"{PMID:Ida 1997:9061570}"	""	"S366G"	""	"Germline"	""	""	"0"	""	""	"g.155236256T>C"	""	"pathogenic (recessive)"	""
"0000939411"	"1"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	"41/94 chromosomes GD"	"{PMID:Ida 1997:9061570}"	""	"L444P"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939412"	"3"	"90"	"1"	"155205506"	"155205506"	"subst"	"0"	"00006"	"GBA_000115"	"g.155205506T>G"	"2/94 chromosomes GD"	"{PMID:Ida 1997:9061570}"	""	"K413Q"	""	"Germline"	""	""	"0"	""	""	"g.155235715T>G"	""	"pathogenic (recessive)"	""
"0000939413"	"1"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	"41/94 chromosomes GD"	"{PMID:Ida 1997:9061570}"	""	"L444P"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939414"	"0"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	"41/94 chromosomes GD"	"{PMID:Ida 1997:9061570}"	""	"1448C"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939415"	"0"	"90"	"1"	"155207932"	"155207932"	"subst"	"4.06062E-5"	"00006"	"GBA_000094"	"g.155207932A>T"	"14/94 chromosomes GD"	"{PMID:Ida 1997:9061570}"	""	"754A"	""	"Germline"	""	""	"0"	""	""	"g.155238141A>T"	""	"pathogenic (recessive)"	""
"0000939416"	"0"	"90"	"1"	"155204794"	"155204794"	"subst"	"1.19956E-5"	"00006"	"GBA_000108"	"g.155204794G>A"	"5/94 chromosomes GD"	"{PMID:Ida 1997:9061570}"	""	"1603T"	""	"Germline"	""	""	"0"	""	""	"g.155235003G>A"	""	"pathogenic (recessive)"	""
"0000939417"	"0"	"90"	"1"	"155205518"	"155205518"	"subst"	"0.000126416"	"00006"	"GBA_000014"	"g.155205518C>G"	"3/94 chromosomes GD"	"{PMID:Ida 1997:9061570}"	""	"1342C"	""	"Germline"	""	""	"0"	""	""	"g.155235727C>G"	""	"pathogenic (recessive)"	""
"0000939418"	"0"	"90"	"1"	"155205025"	"155205044"	"delins"	"0"	"00006"	"GBA_000090"	"g.155205025_155205044delinsCA"	"3/94 chromosomes GD"	"{PMID:Ida 1997:9061570}"	""	"1447-1466del20insTG"	""	"Germline"	""	""	"0"	""	""	"g.155235234_155235253delinsCA"	""	"pathogenic (recessive)"	""
"0000939419"	"0"	"90"	"1"	"155206067"	"155206067"	"subst"	"0"	"00006"	"GBA_000074"	"g.155206067C>T"	"1/94 chromosomes GD"	"{PMID:Ida 1997:9061570}"	""	"1193A"	""	"Germline"	""	""	"0"	""	""	"g.155236276C>T"	""	"pathogenic (recessive)"	""
"0000939420"	"0"	"90"	"1"	"155205614"	"155205614"	"subst"	"1.2182E-5"	"00006"	"GBA_000065"	"g.155205614C>T"	"1/94 chromosomes GD"	"{PMID:Ida 1997:9061570}"	""	"1246A"	""	"Germline"	""	""	"0"	""	""	"g.155235823C>T"	""	"pathogenic (recessive)"	""
"0000939421"	"0"	"90"	"1"	"155205101"	"155205101"	"subst"	"0"	"00006"	"GBA_000114"	"g.155205101T>C"	"1/94 chromosomes GD"	"{PMID:Ida 1997:9061570}"	""	"1390G (K425Q)"	""	"Germline"	""	""	"0"	""	""	"g.155235310T>C"	""	"pathogenic (recessive)"	""
"0000939422"	"0"	"90"	"1"	"155205043"	"155205043"	"subst"	"8.16607E-6"	"00006"	"GBA_000091"	"g.155205043A>C"	"1/94 chromosomes GD"	"{PMID:Ida 1997:9061570}"	""	"1448G"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>C"	""	"pathogenic (recessive)"	""
"0000939423"	"0"	"90"	"1"	"155204987"	"155204987"	"subst"	"7.31826E-5"	"00006"	"GBA_000101"	"g.155204987G>A"	"1/94 chromosomes GD"	"{PMID:Ida 1997:9061570}"	""	"1504T"	""	"Germline"	""	""	"0"	""	""	"g.155235196G>A"	""	"pathogenic (recessive)"	""
"0000939424"	"0"	"90"	"1"	"155210420"	"155210420"	"subst"	"7.32995E-5"	"00006"	"GBA_000008"	"g.155210420C>T"	"1/94 chromosomes GD"	"{PMID:Ida 1997:9061570}"	""	"IVS2+1"	""	"Germline"	""	""	"0"	""	""	"g.155240629C>T"	""	"pathogenic (recessive)"	""
"0000939425"	"0"	"90"	"1"	"155204986"	"155204986"	"subst"	"8.13134E-6"	"00006"	"GBA_000111"	"g.155204986C>T"	"1/94 chromosomes GD"	"{PMID:Ida 1997:9061570}"	""	"IVS10-1"	""	"Germline"	""	""	"0"	""	""	"g.155235195C>T"	""	"pathogenic (recessive)"	""
"0000939426"	"2"	"90"	"1"	"155208003"	"155208003"	"subst"	"0"	"00006"	"GBA_000120"	"g.155208003C>A"	"2/94 chromosomes GD"	"{PMID:Ida 1997:9061570}"	""	"G189V"	""	"Germline"	""	""	"0"	""	""	"g.155238212C>A"	""	"pathogenic (recessive)"	""
"0000939427"	"2"	"90"	"1"	"155208003"	"155208003"	"subst"	"0"	"00006"	"GBA_000120"	"g.155208003C>A"	"2/94 chromosomes GD"	"{PMID:Ida 1997:9061570}"	""	"G189V"	""	"Germline"	""	""	"0"	""	""	"g.155238212C>A"	""	"pathogenic (recessive)"	""
"0000939428"	"2"	"90"	"1"	"155206047"	"155206047"	"subst"	"0"	"00006"	"GBA_000117"	"g.155206047T>C"	"3/94 chromosomes GD"	"{PMID:Ida 1997:9061570}"	""	"S366G"	""	"Germline"	""	""	"0"	""	""	"g.155236256T>C"	""	"pathogenic (recessive)"	""
"0000939429"	"2"	"90"	"1"	"155205077"	"155205077"	"subst"	"0"	"00006"	"GBA_000113"	"g.155205077T>C"	"1/94 chromosomes GD"	"{PMID:Ida 1997:9061570}"	""	"R433G"	""	"Germline"	""	""	"0"	""	""	"g.155235286T>C"	""	"pathogenic (recessive)"	""
"0000939430"	"1"	"90"	"1"	"155207932"	"155207932"	"subst"	"4.06062E-5"	"00006"	"GBA_000094"	"g.155207932A>T"	""	"{PMID:Kawame 1991:1840477}"	""	"3548T>A (F213I)"	""	"Germline"	""	""	"0"	""	""	"g.155238141A>T"	""	"pathogenic (recessive)"	""
"0000939431"	"2"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Kawame 1991:1840477}"	""	"6433T>C (L444P)"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939432"	"1"	"90"	"1"	"155207367"	"155207367"	"subst"	"1.22561E-5"	"00006"	"GBA_000095"	"g.155207367A>T"	""	"{PMID:Beutler 1990:1974409}"	"KpnI+"	""	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.155237576A>T"	""	"pathogenic (recessive)"	""
"0000939433"	"20"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Walley 1995:8547070}"	""	"L444P"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939434"	"11"	"90"	"1"	"155207217"	"155207217"	"subst"	"0"	"00006"	"GBA_000096"	"g.155207217G>C"	""	"{PMID:Walley 1995:8547070}"	"RsaI+"	"4263C>G (P266R)"	""	"Germline"	""	""	"0"	""	""	"g.155237426G>C"	""	"pathogenic (recessive)"	""
"0000939435"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Walley 1995:8547070}"	""	"N370S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939436"	"2"	"90"	"1"	"155206200"	"155206200"	"subst"	"1.21819E-5"	"00006"	"GBA_000097"	"g.155206200C>G"	""	"{PMID:Walley 1995:8547070}"	"RsaI+"	"5276G>C (D315H)"	""	"Germline"	""	""	"0"	""	""	"g.155236409C>G"	""	"pathogenic (recessive)"	""
"0000939437"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Walley 1995:8547070}"	""	"N370S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939438"	"2"	"90"	"1"	"155206190"	"155206190"	"subst"	"0"	"00006"	"GBA_000098"	"g.155206190G>T"	""	"{PMID:Walley 1995:8547070}"	"RsaI+"	"5286C>A (A318D)"	""	"Germline"	""	""	"0"	""	""	"g.155236399G>T"	""	"pathogenic (recessive)"	""
"0000939439"	"10"	"90"	"1"	"155207932"	"155207932"	"subst"	"4.06062E-5"	"00006"	"GBA_000094"	"g.155207932A>T"	""	"{PMID:He 1992:1301953}"	""	"F213I"	""	"Germline"	""	""	"0"	""	""	"g.155238141A>T"	""	"pathogenic (recessive)"	""
"0000939440"	"21"	"90"	"1"	"155207148"	"155207148"	"subst"	"0"	"00006"	"GBA_000099"	"g.155207148G>A"	""	"{PMID:He 1992:1301953}"	""	"P289L"	""	"Germline"	""	""	"0"	""	""	"g.155237357G>A"	""	"pathogenic (recessive)"	""
"0000939441"	"10"	"90"	"1"	"155206175"	"155206175"	"subst"	"1.21819E-5"	"00006"	"GBA_000100"	"g.155206175G>A"	""	"{PMID:He 1992:1301953}"	""	"T323I"	""	"Germline"	""	""	"0"	""	""	"g.155236384G>A"	""	"pathogenic (recessive)"	""
"0000939442"	"21"	"90"	"1"	"155204987"	"155204987"	"subst"	"7.31826E-5"	"00006"	"GBA_000101"	"g.155204987G>A"	""	"{PMID:He 1992:1301953}"	""	"R463C"	""	"Germline"	""	""	"0"	""	""	"g.155235196G>A"	""	"pathogenic (recessive)"	""
"0000939443"	"1"	"90"	"1"	"155206170"	"155206170"	"subst"	"8.12348E-6"	"00006"	"GBA_000102"	"g.155206170C>T"	""	"{PMID:Eyal 1990:2269438}"	"Bsu36I+"	"325"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000939444"	"2"	"90"	"1"	"155206119"	"155206119"	"subst"	"0"	"00006"	"GBA_000103"	"g.155206119A>C"	""	"{PMID:Eyal 1990:2269438}"	"StuI-"	"342"	""	"Germline"	""	""	"0"	""	""	"g.155236328A>C"	""	"pathogenic (recessive)"	""
"0000939445"	"1"	"90"	"1"	"155204994"	"155205203"	"delins"	"0"	"00006"	"GBA_000104"	"g.155204994_155205203delins155184367_155184576"	""	"{PMID:Eyal 1990:2269438}"	""	"recNciI (6463T>C;6468G>C;6482G>C)"	"variant 2nd chromosome not found"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000939446"	"1"	"90"	"1"	"155204994"	"155205518"	"delins"	"0"	"00006"	"GBA_000105"	"g.155204994_155205518delins155184367_155184891"	""	"{PMID:Eyal 1990:2269438}"	""	"recTL (5957G>C;6272C>T;6306T>C;6463T>C;6468G>C;6482G>C)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000939447"	"2"	"90"	"1"	"155205518"	"155205518"	"subst"	"0.000126416"	"00006"	"GBA_000014"	"g.155205518C>G"	""	"{PMID:Eyal 1990:2269438}"	""	"5957G>C"	""	"Germline"	""	""	"0"	""	""	"g.155235727C>G"	""	"pathogenic (recessive)"	""
"0000939448"	"1"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Eyal 1990:2269438}"	"NciI+"	"NciI (6463T>C)"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939449"	"1"	"90"	"1"	"155206068"	"155206068"	"subst"	"4.06144E-6"	"00006"	"GBA_000106"	"g.155206068G>A"	""	"{PMID:Beutler 1994:8112750}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.155236277G>A"	""	"pathogenic (recessive)"	""
"0000939450"	"1"	"90"	"1"	"155206068"	"155206068"	"subst"	"4.06144E-6"	"00006"	"GBA_000106"	"g.155206068G>A"	""	"{PMID:Beutler 1994:8112750}"	""	"1192T"	""	"Germline"	""	""	"0"	""	""	"g.155236277G>A"	""	"pathogenic (recessive)"	""
"0000939451"	"1"	"90"	"1"	"155206068"	"155206068"	"subst"	"4.06144E-6"	"00006"	"GBA_000106"	"g.155206068G>A"	""	"{PMID:Beutler 1994:8112750}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.155236277G>A"	""	"pathogenic (recessive)"	""
"0000939452"	"1"	"90"	"1"	"155205548"	"155205548"	"subst"	"0"	"00006"	"GBA_000107"	"g.155205548C>T"	""	"{PMID:Beutler 1994:8112750}"	""	"1312A"	""	"Germline"	""	""	"0"	""	""	"g.155235757C>T"	""	"pathogenic (recessive)"	""
"0000939453"	"2"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Beutler 1994:8112750}"	""	"1448C"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939454"	"2"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Beutler 1994:8112750}"	""	"1448C"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939455"	"2"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Beutler 1994:8112750}"	""	"1226G"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939456"	"2"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Beutler 1994:8112750}"	""	"1226G"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939457"	"3"	"90"	"1"	"155204794"	"155204794"	"subst"	"1.19956E-5"	"00006"	"GBA_000108"	"g.155204794G>A"	""	"{PMID:Kawame 1992:1487244}"	""	"6682C>T (Arg496Cys)"	""	"Germline"	""	""	"0"	""	""	"g.155235003G>A"	""	"pathogenic (recessive)"	""
"0000939458"	"3"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Tsuji 1988:3353383}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939459"	"1"	"90"	"1"	"155205614"	"155205614"	"subst"	"1.2182E-5"	"00006"	"GBA_000065"	"g.155205614C>T"	""	"{PMID:Laubscher 1994:8081401}"	""	"G>A Gly377Ser"	""	"Germline"	""	""	"0"	""	""	"g.155235823C>T"	""	"pathogenic (recessive)"	""
"0000939460"	"2"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Laubscher 1994:8081401}"	""	"T>C L444P"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939461"	"11"	"90"	"1"	"155205604"	"155205604"	"subst"	"0"	"00006"	"GBA_000109"	"g.155205604T>G"	""	"{PMID:Walley 1993:8268935}"	""	"A>C D38OA"	""	"Germline"	"yes"	""	"0"	""	""	".155235813T>G"	""	"pathogenic (recessive)"	""
"0000939462"	"21"	"90"	"1"	"155205543"	"155205597"	"del"	"0"	"00006"	"GBA_000071"	"g.155205543_155205597del"	""	"{PMID:Walley 1993:8268935}"	""	"1255del55"	""	"Germline"	"yes"	""	"0"	""	""	"g.155235752_155235806del"	""	"pathogenic (recessive)"	""
"0000939463"	"1"	"90"	"1"	"155205563"	"155205563"	"subst"	"2.84266E-5"	"00006"	"GBA_000116"	"g.155205563C>A"	""	"{PMID:Theophilus 1989:2508065}, {PMID:Latham 1990:2349952}"	""	"5912T"	""	"Germline"	""	""	"0"	""	""	"g.155235772C>A"	""	"pathogenic (recessive)"	""
"0000939464"	"21"	"90"	"1"	"155205563"	"155205563"	"subst"	"2.84266E-5"	"00006"	"GBA_000116"	"g.155205563C>A"	""	"{PMID:Theophilus 1989:2508065}, {PMID:Latham 1990:2349952}"	""	"5912T"	""	"Germline"	""	""	"0"	""	""	"g.155235772C>A"	""	"pathogenic (recessive)"	""
"0000939465"	"1"	"90"	"1"	"155205518"	"155205518"	"subst"	"0.000126416"	"00006"	"GBA_000014"	"g.155205518C>G"	""	"{PMID:Theophilus 1989:2508065}"	""	"5957C"	""	"Germline"	""	""	"0"	""	""	"g.155235727C>G"	""	"pathogenic (recessive)"	""
"0000939466"	"1"	"90"	"1"	"155205518"	"155205518"	"subst"	"0.000126416"	"00006"	"GBA_000014"	"g.155205518C>G"	""	"{PMID:Theophilus 1989:2508065}"	""	"5957C"	""	"Germline"	""	""	"0"	""	""	"g.155235727C>G"	""	"pathogenic (recessive)"	""
"0000939467"	"11"	"90"	"1"	"155205518"	"155205518"	"subst"	"0.000126416"	"00006"	"GBA_000014"	"g.155205518C>G"	""	"{PMID:Theophilus 1989:2508065}, {PMID:Latham 1990:2349952}"	""	"5957C;6433C;6468C;6482C (Val394Leu;Leu444Pro;Ala456Pro;Val460=)"	""	"Germline"	""	""	"0"	""	""	"g.155235727C>G"	""	"pathogenic (recessive)"	""
"0000939468"	"1"	"90"	"1"	"155205517"	"155205517"	"subst"	"0"	"00006"	"GBA_000088"	"g.155205517T>A"	""	"{PMID:Theophilus 1989:2508065}"	""	"5958T"	""	"Germline"	""	""	"0"	""	""	"g.155235726T>A"	""	"pathogenic (recessive)"	""
"0000939469"	"2"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Theophilus 1989:2508065}, {PMID:Latham 1990:2349952}"	""	"5841G"	""	"Germline"	""	""	"0"	""	""	"9.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939470"	"2"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Theophilus 1989:2508065}"	""	"5841G"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939471"	"2"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Theophilus 1989:2508065}"	""	"6433C"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939472"	"2"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Theophilus 1989:2508065}"	""	"6433C"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939474"	"11"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Theophilus 1989:2508065}, {PMID:Latham 1990:2349952}"	""	"5957C;6433C;6468C;6482C (Val394Leu;Leu444Pro;Ala456Pro;Val460=)"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939475"	"2"	"90"	"1"	"155205556"	"155205556"	"subst"	"0"	"00006"	"GBA_000072"	"g.155205556T>G"	""	"{PMID:Amaral 1996:8889591}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.155235765T>G"	""	"pathogenic (recessive)"	""
"0000939476"	"3"	"90"	"1"	"155205614"	"155205614"	"subst"	"1.2182E-5"	"00006"	"GBA_000065"	"g.155205614C>T"	""	"{PMID:Amaral 1996:8889591}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.155235823C>T"	""	"pathogenic (recessive)"	""
"0000939477"	"3"	"90"	"1"	"155205614"	"155205614"	"subst"	"1.2182E-5"	"00006"	"GBA_000065"	"g.155205614C>T"	""	"{PMID:Amaral 1996:8889591}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.155235823C>T"	""	"pathogenic (recessive)"	""
"0000939478"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Amaral 1996:8889591}"	""	"N370S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939479"	"11"	"90"	"1"	"155205551"	"155205551"	"subst"	"4.06194E-6"	"00006"	"GBA_000127"	"g.155205551C>G"	""	"{PMID:Seeman 1996:8780099}"	"SalI-"	"5224G>C (Val417Leu)"	""	"Germline"	""	""	"0"	""	""	"g.155235760C>G"	""	"pathogenic (recessive)"	""
"0000939480"	"21"	"90"	"1"	"155204808"	"155204808"	"subst"	"0"	"00006"	"GBA_000128"	"g.155204808G>A"	""	"{PMID:Seeman 1996:8780099}"	""	"6668C>T (Thr510Ile)"	""	"Germline"	""	""	"0"	""	""	"g.155235017G>A"	""	"pathogenic (recessive)"	""
"0000939481"	"1"	"90"	"1"	"155205499"	"155205499"	"subst"	"0"	"00006"	"GBA_000007"	"g.155205499G>C"	""	"{PMID:Wigderson 1989:2464926}"	"HhaI+"	"C>G (Pro415Arg)"	""	"Germline"	""	""	"0"	""	""	"g.155235708G>C"	""	"pathogenic (recessive)"	""
"0000939482"	"2"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Wigderson 1989:2464926}"	"NciI+"	""	""	"Germline"	""	""	"0"	""	"T>C (Leu444Pro)"	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939483"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Choy 1994:7915932}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939484"	"2"	"90"	"1"	"155205494"	"155205494"	"subst"	"0"	"00006"	"GBA_000129"	"g.155205494A>C"	""	"{PMID:Choy 1994:7915932}"	"NcoI+"	""	""	"Germline"	""	""	"0"	""	""	"g.155235703A>C"	""	"pathogenic (recessive)"	""
"0000939485"	"0"	"30"	"1"	"155204796"	"155204796"	"subst"	"5.89122E-6"	"00006"	"GBA_000051"	"g.155204796C>T"	""	"{PMID:Choy 1994:7915932}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.155235005C>T"	""	"VUS"	""
"0000939486"	"0"	"30"	"1"	"155210452"	"155210452"	"subst"	"0"	"00006"	"GBA_000130"	"g.155210452C>A"	""	"{PMID:Choy 1994:7915932}"	""	"84G>T (Gly=)"	""	"Germline"	""	""	"0"	""	""	"g.155240661C>A"	""	"VUS"	""
"0000939487"	"2"	"90"	"1"	"155205490"	"155205490"	"subst"	"0"	"00006"	"GBA_000131"	"g.155205490T>C"	""	"{PMID:Tuteja 1994:8076951}"	"BglI+"	"Y418C"	""	"Germline"	""	""	"0"	""	""	"g.155235699T>C"	""	"pathogenic (recessive)"	""
"0000939488"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Tuteja 1994:8076951}"	""	"N370S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939489"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Beutler 1992:1572652}"	""	"Pv1.1- allele"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939490"	"2"	"90"	"1"	"155210452"	"155210452"	"dup"	"0"	"00006"	"GBA_000004"	"g.155210452dup"	""	"{PMID:Beutler 1992:1572652}"	""	"84GG Pv1.1+ allele"	""	"Germline"	""	""	"0"	""	""	"g.155240661dup"	""	"pathogenic (recessive)"	""
"0000939491"	"2"	"30"	"1"	"155212288"	"155212288"	"subst"	"0"	"00006"	"GBA_000132"	"g.155212288C>T"	""	"{PMID:Beutler 1992:1572652}"	""	"Pv1.1+ allele; -808G>A"	""	"Germline"	""	""	"0"	""	""	"g.155242497C>T"	""	"likely benign"	""
"0000939492"	"2"	"30"	"1"	"155212211"	"155212211"	"subst"	"0"	"00006"	"GBA_000133"	"g.155212211A>G"	""	"{PMID:Beutler 1992:1572652}"	""	"Pv1.1+ allele; -725T>C"	""	"Germline"	""	""	"0"	""	""	"g.155242420A>G"	""	"likely benign"	""
"0000939493"	"2"	"30"	"1"	"155212100"	"155212100"	"subst"	"0"	"00006"	"GBA_000134"	"g.155212100A>G"	""	"{PMID:Beutler 1992:1572652}"	""	"Pv1.1+ allele; -614T>C"	""	"Germline"	""	""	"0"	""	""	"g.155242309A>G"	""	"likely benign"	""
"0000939494"	"2"	"30"	"1"	"155209360"	"155209360"	"subst"	"0"	"00006"	"GBA_000135"	"g.155209360C>T"	""	"{PMID:Beutler 1992:1572652}"	""	"Pv1.1+ allele; 2128G>A"	""	"Germline"	""	""	"0"	""	""	"g.155239569C>T"	""	"likely benign"	""
"0000939495"	"2"	"30"	"1"	"155208647"	"155208647"	"subst"	"0"	"00006"	"GBA_000136"	"g.155208647T>G"	""	"{PMID:Beutler 1992:1572652}"	""	"Pv1.1+ allele; 2834G>C"	""	"Germline"	""	""	"0"	""	""	"g.155238856T>G"	""	"likely benign"	""
"0000939496"	"2"	"30"	"1"	"155208183"	"155208183"	"subst"	"0"	"00006"	"GBA_000137"	"g.155208183T>C"	""	"{PMID:Beutler 1992:1572652}"	""	"Pv1.1+ allele; 3297A>G"	""	"Germline"	""	""	"0"	""	""	"g.155238392T>C"	""	"likely benign"	""
"0000939497"	"2"	"30"	"1"	"155207626"	"155207626"	"subst"	"0"	"00006"	"GBA_000138"	"g.155207626G>A"	""	"{PMID:Beutler 1992:1572652}"	""	"Pv1.1+ allele; 3854C>T"	""	"Germline"	""	""	"0"	""	""	"g.155237835G>A"	""	"likely benign"	""
"0000939498"	"2"	"30"	"1"	"155207549"	"155207549"	"subst"	"0"	"00006"	"GBA_000139"	"g.155207549T>C"	""	"{PMID:Beutler 1992:1572652}"	"PvuII-"	"Pv1.1+ allele; 3931A>G"	""	"Germline"	""	""	"0"	""	""	"g.155237758T>C"	""	"likely benign"	""
"0000939499"	"2"	"30"	"1"	"155206823"	"155206823"	"del"	"0"	"00006"	"GBA_000140"	"g.155206823del"	""	"{PMID:Beutler 1992:1572652}"	""	"Pv1.1+ allele; 4644delA"	""	"Germline"	""	""	"0"	""	""	"g.155237032del"	""	"likely benign"	""
"0000939500"	"2"	"30"	"1"	"155206341"	"155206341"	"subst"	"0"	"00006"	"GBA_000141"	"g.155206341T>G"	""	"{PMID:Beutler 1992:1572652}"	""	"Pv1.1+ allele; 5135A>C"	""	"Germline"	""	""	"0"	""	""	"g.155236550T>G"	""	"likely benign"	""
"0000939501"	"2"	"30"	"1"	"155205331"	"155205331"	"subst"	"0"	"00006"	"GBA_000142"	"g.155205331T>C"	""	"{PMID:Beutler 1992:1572652}"	""	"Pv1.1+ allele; 6144A>G"	""	"Germline"	""	""	"0"	""	""	"g.155235540T>C"	""	"likely benign"	""
"0000939502"	"3"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Tsuji 1987:2880291}"	"NciI+"	"T>C Leu444Pro"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939503"	"3"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Tsuji 1987:2880291}"	"NciI+"	"T>C Leu444Pro"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939504"	"3"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Tsuji 1987:2880291}"	"NciI+"	"T>C Leu444Pro"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939505"	"1"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Tsuji 1987:2880291}"	"NciI+"	"T>C Leu444Pro"	"no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939506"	"1"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Tsuji 1987:2880291}"	"NciI+"	"T>C Leu444Pro"	"no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939507"	"1"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Tsuji 1987:2880291}"	"NciI+"	"T>C Leu444Pro"	"no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939508"	"2"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Hong 1990:1972019}"	""	"Leu444Pro;Ala456Pro;Val460="	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939509"	"2"	"90"	"1"	"155205008"	"155205008"	"subst"	"0.000138248"	"00006"	"GBA_000068"	"g.155205008C>G"	""	"{PMID:Hong 1990:1972019}"	""	"Leu444Pro;Ala456Pro;Val460="	""	"Germline"	""	""	"0"	""	""	"g.155235217C>G"	""	"pathogenic (recessive)"	""
"0000939510"	"2"	"10"	"1"	"155204994"	"155204994"	"subst"	"0.000309029"	"00006"	"GBA_000010"	"g.155204994C>G"	""	"{PMID:Hong 1990:1972019}"	""	"Leu444Pro;Ala456Pro;Val460="	""	"Germline"	""	""	"0"	""	""	"g.155235203C>G"	""	"benign"	""
"0000939511"	"1"	"90"	"1"	"155204987"	"155204987"	"subst"	"7.31826E-5"	"00006"	"GBA_000101"	"g.155204987G>A"	""	"{PMID:Hong 1990:1972019}"	""	"C>T Arg463Cys"	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.155235196G>A"	""	"pathogenic (recessive)"	""
"0000939512"	"1"	"90"	"1"	"155205518"	"155205518"	"subst"	"0.000126416"	"00006"	"GBA_000014"	"g.155205518C>G"	""	"{PMID:Ohshima 1993:7694727}"	""	"Asp409His"	""	"Germline"	""	""	"0"	""	""	"g.155235727C>G"	""	"pathogenic (recessive)"	""
"0000939513"	"2"	"90"	"1"	"155204986"	"155204986"	"subst"	"8.13134E-6"	"00006"	"GBA_000111"	"g.155204986C>T"	""	"{PMID:Ohshima 1993:7694727}"	""	"IVS10-1G>A"	""	"Germline"	""	""	"0"	""	""	"g.155235195C>T"	""	"pathogenic (recessive)"	""
"0000939515"	"11"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Beutler 1994:7833951}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939516"	"21"	"90"	"1"	"155204239"	"155211069"	"del"	"0"	"00006"	"GBA_000143"	"g.(155197325_155204239)_(155211069_155259084)del"	""	"{PMID:Beutler 1994:7833951}"	""	""	"deletion does not include GBAP1 and PKLR"	"Germline"	"yes"	""	"0"	""	""	"g.(155227534_155234448)_(155241278_155289293)del"	""	"pathogenic (recessive)"	""
"0000939517"	"3"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Latham 1990:2349952}"	""	"6433C"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939518"	"3"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Latham 1990:2349952}"	""	"6433C"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939519"	"10"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Latham 1990:2349952}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939520"	"21"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Latham 1990:2349952}"	""	"6433C;6468C;6482C (Leu444Pro;Ala456Pro;Val460=)"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939521"	"21"	"90"	"1"	"155205008"	"155205008"	"subst"	"0.000138248"	"00006"	"GBA_000068"	"g.155205008C>G"	""	"{PMID:Latham 1990:2349952}"	""	"6433C;6468C;6482C (Leu444Pro;Ala456Pro;Val460=)"	""	"Germline"	""	""	"0"	""	""	"g.155235217C>G"	""	"pathogenic (recessive)"	""
"0000939522"	"21"	"10"	"1"	"155204994"	"155204994"	"subst"	"0.000309029"	"00006"	"GBA_000010"	"g.155204994C>G"	""	"{PMID:Latham 1990:2349952}"	""	"6433C;6468C;6482C (Leu444Pro;Ala456Pro;Val460=)"	""	"Germline"	""	""	"0"	""	""	"g.155235203C>G"	""	"benign"	""
"0000939523"	"11"	"90"	"1"	"155205008"	"155205008"	"subst"	"0.000138248"	"00006"	"GBA_000068"	"g.155205008C>G"	""	"{PMID:Latham 1990:2349952}"	""	"5957C;6433C;6468C;6482C (Val394Leu;Leu444Pro;Ala456Pro;Val460=)"	""	"Germline"	""	""	"0"	""	""	"g.155235217C>G"	""	"pathogenic (recessive)"	""
"0000939524"	"11"	"10"	"1"	"155204994"	"155204994"	"subst"	"0.000309029"	"00006"	"GBA_000010"	"g.155204994C>G"	""	"{PMID:Latham 1990:2349952}"	""	"5957C;6433C;6468C;6482C (Val394Leu;Leu444Pro;Ala456Pro;Val460=)"	""	"Germline"	""	""	"0"	""	""	"g.155235203C>G"	""	"benign"	""
"0000939525"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N409S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939526"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N409S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939527"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N409S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939528"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N409S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939529"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N409S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939530"	"3"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N409S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939531"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N409S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939532"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N409S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939533"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N409S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939534"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N409S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939535"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N409S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939536"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N409S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939537"	"1"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Pomponio 2005:16185907}"	""	"L483P"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939538"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N409S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939539"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N409S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939540"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N409S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939541"	"3"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N409S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939542"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N409S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939543"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N409S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939544"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N409S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939545"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N409S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939546"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N409S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939547"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N409S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939548"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N409S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939549"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N409S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939550"	"2"	"90"	"1"	"155207986"	"155207986"	"subst"	"0"	"00006"	"GBA_000156"	"g.155207986C>A"	""	"{PMID:Pomponio 2005:16185907}"	""	"G234W"	""	"Germline"	""	""	"0"	""	""	"g.155238195C>A"	""	"pathogenic (recessive)"	""
"0000939551"	"2"	"90"	"1"	"155204994"	"155205203"	"delins"	"0"	"00006"	"GBA_000104"	"g.155204994_155205203delins155184367_155184576"	""	"{PMID:Pomponio 2005:16185907}"	""	"(RecNciI)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000939552"	"2"	"90"	"1"	"155205605"	"155205605"	"subst"	"0"	"00006"	"GBA_000147"	"g.155205605C>G"	""	"{PMID:Pomponio 2005:16185907}"	""	"D419H"	""	"Germline"	""	""	"0"	""	""	"g.155235814C>G"	""	"pathogenic (recessive)"	""
"0000939553"	"2"	"90"	"1"	"155208090"	"155208091"	"del"	"1.08573E-5"	"00006"	"GBA_000158"	"g.155208090_155208091del"	""	"{PMID:Pomponio 2005:16185907}"	""	"595-596delCT"	""	"Germline"	""	""	"0"	""	""	"g.155238299_155238300del"	""	"pathogenic (recessive)"	""
"0000939554"	"2"	"90"	"1"	"155205605"	"155205605"	"subst"	"0"	"00006"	"GBA_000147"	"g.155205605C>G"	""	"{PMID:Pomponio 2005:16185907}"	""	"D419H"	""	"Germline"	""	""	"0"	""	""	"g.155235814C>G"	""	"pathogenic (recessive)"	""
"0000939555"	"2"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Pomponio 2005:16185907}"	""	"E355K;L483P"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939556"	"2"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Pomponio 2005:16185907}"	""	"E355K;L483P"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939557"	"2"	"90"	"1"	"155208090"	"155208091"	"del"	"1.08573E-5"	"00006"	"GBA_000158"	"g.155208090_155208091del"	""	"{PMID:Pomponio 2005:16185907}"	""	"595-596delCT"	""	"Germline"	""	""	"0"	""	""	"g.155238299_155238300del"	""	"pathogenic (recessive)"	""
"0000939558"	"2"	"90"	"1"	"155208090"	"155208091"	"del"	"1.08573E-5"	"00006"	"GBA_000158"	"g.155208090_155208091del"	""	"{PMID:Pomponio 2005:16185907}"	""	"595-596delCT"	""	"Germline"	""	""	"0"	""	""	"g.155238299_155238300del"	""	"pathogenic (recessive)"	""
"0000939559"	"2"	"90"	"1"	"155207977"	"155207977"	"subst"	"8.1215E-6"	"00006"	"GBA_000155"	"g.155207977T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"K237E"	""	"Germline"	""	""	"0"	""	""	"g.155238186T>C"	""	"pathogenic (recessive)"	""
"0000939560"	"2"	"90"	"1"	"155207977"	"155207977"	"subst"	"8.1215E-6"	"00006"	"GBA_000155"	"g.155207977T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"K237E"	""	"Germline"	""	""	"0"	""	""	"g.155238186T>C"	""	"pathogenic (recessive)"	""
"0000939561"	"2"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Pomponio 2005:16185907}"	""	"L483P"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939562"	"2"	"90"	"1"	"155208090"	"155208091"	"del"	"1.08573E-5"	"00006"	"GBA_000158"	"g.155208090_155208091del"	""	"{PMID:Pomponio 2005:16185907}"	""	"595-596delCT"	""	"Germline"	""	""	"0"	""	""	"g.155238299_155238300del"	""	"pathogenic (recessive)"	""
"0000939563"	"2"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Pomponio 2005:16185907}"	""	"E355K;L483P"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939564"	"2"	"90"	"1"	"155205605"	"155205605"	"subst"	"0"	"00006"	"GBA_000147"	"g.155205605C>G"	""	"{PMID:Pomponio 2005:16185907}"	""	"D419H"	""	"Germline"	""	""	"0"	""	""	"g.155235814C>G"	""	"pathogenic (recessive)"	""
"0000939565"	"2"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Pomponio 2005:16185907}"	""	"L483P"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939566"	"2"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Pomponio 2005:16185907}"	""	"L483P"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939567"	"2"	"90"	"1"	"155206206"	"155206206"	"subst"	"0"	"00006"	"GBA_000076"	"g.155206206A>G"	""	"{PMID:Pomponio 2005:16185907}"	""	"Y352H"	""	"Germline"	""	""	"0"	""	""	"g.155236415A>G"	""	"pathogenic (recessive)"	""
"0000939568"	"2"	"90"	"1"	"155207233"	"155207233"	"del"	"0"	"00006"	"GBA_000153"	"g.155207233del"	""	"{PMID:Pomponio 2005:16185907}"	""	"898delG"	""	"Germline"	""	""	"0"	""	""	"g.155237442del"	""	"pathogenic (recessive)"	""
"0000939569"	"2"	"90"	"1"	"155207977"	"155207977"	"subst"	"8.1215E-6"	"00006"	"GBA_000155"	"g.155207977T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"K237E"	""	"Germline"	""	""	"0"	""	""	"g.155238186T>C"	""	"pathogenic (recessive)"	""
"0000939570"	"2"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Pomponio 2005:16185907}"	""	"L483P"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939571"	"2"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Pomponio 2005:16185907}"	""	"L483P"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939572"	"2"	"90"	"1"	"155206206"	"155206206"	"subst"	"0"	"00006"	"GBA_000076"	"g.155206206A>G"	""	"{PMID:Pomponio 2005:16185907}"	""	"Y352H"	""	"Germline"	""	""	"0"	""	""	"g.155236415A>G"	""	"pathogenic (recessive)"	""
"0000939573"	"2"	"50"	"1"	"155206167"	"155206167"	"subst"	"0.0106732"	"00006"	"GBA_000017"	"g.155206167C>T"	""	"{PMID:Pomponio 2005:16185907}"	""	"E355K;L483P"	""	"Germline"	""	""	"0"	""	""	"g.155236376C>T"	""	"VUS"	""
"0000939574"	"2"	"50"	"1"	"155206167"	"155206167"	"subst"	"0.0106732"	"00006"	"GBA_000017"	"g.155206167C>T"	""	"{PMID:Pomponio 2005:16185907}"	""	"E355K;L483P"	""	"Germline"	""	""	"0"	""	""	"g.155236376C>T"	""	"VUS"	""
"0000939575"	"2"	"50"	"1"	"155206167"	"155206167"	"subst"	"0.0106732"	"00006"	"GBA_000017"	"g.155206167C>T"	""	"{PMID:Pomponio 2005:16185907}"	""	"E355K;L483P"	""	"Germline"	""	""	"0"	""	""	"g.155236376C>T"	""	"VUS"	""
"0000939577"	"1"	"90"	"1"	"155205518"	"155205518"	"subst"	"0.000126416"	"00006"	"GBA_000014"	"g.155205518C>G"	""	"{PMID:Pomponio 2005:16185907}"	""	"D409H"	""	"Germline"	""	""	"0"	""	""	"g.155235727C>G"	""	"pathogenic (recessive)"	""
"0000939578"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N370S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939579"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N370S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939580"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N370S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939581"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N370S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939582"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N370S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939583"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N370S"	"no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939584"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N370S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939585"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N370S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939586"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N370S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939587"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N370S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939588"	"3"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N370S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939589"	"1"	"90"	"1"	"155204994"	"155205203"	"delins"	"0"	"00006"	"GBA_000104"	"g.155204994_155205203delins155184367_155184576"	""	"{PMID:Pomponio 2005:16185907}"	""	"RecNciI"	"no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000939590"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N370S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939591"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N370S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939592"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N370S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939593"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N370S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939594"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N370S"	"no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939595"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N370S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939596"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N370S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939597"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N370S"	"no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939598"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N370S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939599"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N370S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939600"	"1"	"90"	"1"	"155204994"	"155205203"	"delins"	"0"	"00006"	"GBA_000104"	"g.155204994_155205203delins155184367_155184577"	""	"{PMID:Pomponio 2005:16185907}"	""	"RecNciI"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000939601"	"1"	"90"	"1"	"155205518"	"155205518"	"subst"	"0.000126416"	"00006"	"GBA_000014"	"g.155205518C>G"	""	"{PMID:Pomponio 2005:16185907}"	""	"D409"	""	"Germline"	""	""	"0"	""	""	"g.155235727C>G"	""	"pathogenic (recessive)"	""
"0000939602"	"3"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N370S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939603"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N370S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939604"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N370S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939605"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N370S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939606"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N370S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939607"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N370S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939608"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N370S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939609"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N370S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939610"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N370S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939611"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N370S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939612"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N370S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939613"	"1"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"00006"	"GBA_000005"	"g.155205634T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"N370S"	""	"Germline"	""	""	"0"	""	""	"g.155235843T>C"	""	"pathogenic (recessive)"	""
"0000939614"	"2"	"90"	"1"	"155204994"	"155205203"	"delins"	"0"	"00006"	"GBA_000104"	"g.155204994_155205203delins155184367_155184578"	""	"{PMID:Pomponio 2005:16185907}"	""	"RecNciI"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000939615"	"2"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Pomponio 2005:16185907}"	""	"L444P"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939616"	"2"	"90"	"1"	"155210452"	"155210452"	"dup"	"0"	"00006"	"GBA_000004"	"g.155210452dup"	""	"{PMID:Pomponio 2005:16185907}"	""	"84GG"	""	"Germline"	""	""	"0"	""	""	"g.155240661dup"	""	"pathogenic (recessive)"	""
"0000939617"	"2"	"90"	"1"	"155208421"	"155208421"	"subst"	"1.62628E-5"	"00006"	"GBA_000067"	"g.155208421G>A"	""	"{PMID:Pomponio 2005:16185907}"	""	"R120W"	""	"Germline"	""	""	"0"	""	""	"g.155238630G>A"	""	"pathogenic (recessive)"	""
"0000939618"	"2"	"90"	"1"	"155207161"	"155207161"	"subst"	"2.03393E-5"	"00006"	"GBA_000151"	"g.155207161G>A"	""	"{PMID:Pomponio 2005:16185907}"	""	"R285C"	""	"Germline"	""	""	"0"	""	""	"g.155237370G>A"	""	"pathogenic (recessive)"	""
"0000939619"	"2"	"90"	"1"	"155204994"	"155205203"	"delins"	"0"	"00006"	"GBA_000104"	"g.155204994_155205203delins155184367_155184579"	""	"{PMID:Pomponio 2005:16185907}"	""	"RecNciI"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000939620"	"2"	"90"	"1"	"155204994"	"155205203"	"delins"	"0"	"00006"	"GBA_000104"	"g.155204994_155205203delins155184367_155184580"	""	"{PMID:Pomponio 2005:16185907}"	""	"RecNciI"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000939621"	"2"	"90"	"1"	"155204994"	"155205203"	"delins"	"0"	"00006"	"GBA_000104"	"g.155204994_155205203delins155184367_155184581"	""	"{PMID:Pomponio 2005:16185907}"	""	"RecNciI"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000939622"	"2"	"90"	"1"	"155204994"	"155205203"	"delins"	"0"	"00006"	"GBA_000104"	"g.155204994_155205203delins155184367_155184582"	""	"{PMID:Pomponio 2005:16185907}"	""	"RecNciI"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000939623"	"2"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Pomponio 2005:16185907}"	""	"L444P"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939624"	"2"	"90"	"1"	"155205548"	"155205548"	"subst"	"0"	"00006"	"GBA_000107"	"g.155205548C>T"	""	"{PMID:Pomponio 2005:16185907}"	""	"D399N"	""	"Germline"	""	""	"0"	""	""	"g.155235757C>T"	""	"pathogenic (recessive)"	""
"0000939625"	"2"	"90"	"1"	"155208087"	"155208087"	"subst"	"0"	"00006"	"GBA_000157"	"g.155208087A>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"1161S"	""	"Germline"	""	""	"0"	""	""	"g.155238296A>C"	""	"pathogenic (recessive)"	""
"0000939626"	"2"	"90"	"1"	"155204994"	"155205203"	"delins"	"0"	"00006"	"GBA_000104"	"g.155204994_155205203delins155184367_155184583"	""	"{PMID:Pomponio 2005:16185907}"	""	"RecNciI"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000939627"	"2"	"90"	"1"	"155207220"	"155207220"	"subst"	"0"	"00006"	"GBA_000152"	"g.155207220C>T"	""	"{PMID:Pomponio 2005:16185907}"	""	"G265D"	""	"Germline"	""	""	"0"	""	""	"g.155237429C>T"	""	"pathogenic (recessive)"	""
"0000939628"	"2"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Pomponio 2005:16185907}"	""	"L444P"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939629"	"2"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Pomponio 2005:16185907}"	""	"L444P"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939630"	"2"	"90"	"1"	"155204994"	"155205203"	"delins"	"0"	"00006"	"GBA_000104"	"g.155204994_155205203delins155184367_155184584"	""	"{PMID:Pomponio 2005:16185907}"	""	"RecNciI"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000939631"	"2"	"90"	"1"	"155204994"	"155205203"	"delins"	"0"	"00006"	"GBA_000104"	"g.155204994_155205203delins155184367_155184585"	""	"{PMID:Pomponio 2005:16185907}"	""	"RecNciI"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000939632"	"2"	"90"	"1"	"155209725"	"155209725"	"subst"	"2.84449E-5"	"00006"	"GBA_000044"	"g.155209725G>A"	""	"{PMID:Pomponio 2005:16185907}"	""	"R48W"	""	"Germline"	""	""	"0"	""	""	"g.155239934G>A"	""	"pathogenic (recessive)"	""
"0000939633"	"2"	"90"	"1"	"155205512"	"155205512"	"subst"	"0"	"00006"	"GBA_000145"	"g.155205512A>T"	""	"{PMID:Pomponio 2005:16185907}"	""	"F4111"	""	"Germline"	""	""	"0"	""	""	"g.155235721A>T"	""	"pathogenic (recessive)"	""
"0000939634"	"2"	"90"	"1"	"155204994"	"155205203"	"delins"	"0"	"00006"	"GBA_000104"	"g.155204994_155205203delins155184367_155184586"	""	"{PMID:Pomponio 2005:16185907}"	""	"RecNciI"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000939635"	"2"	"90"	"1"	"155207965"	"155207965"	"subst"	"3.24855E-5"	"00006"	"GBA_000036"	"g.155207965C>T"	""	"{PMID:Pomponio 2005:16185907}"	""	"G202R"	""	"Germline"	""	""	"0"	""	""	"g.155238174C>T"	""	"pathogenic (recessive)"	""
"0000939636"	"2"	"90"	"1"	"155204994"	"155205203"	"delins"	"0"	"00006"	"GBA_000104"	"g.155204994_155205203delins155184367_155184587"	""	"{PMID:Pomponio 2005:16185907}"	""	"RecNciI"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000939637"	"2"	"90"	"1"	"155204994"	"155205203"	"delins"	"0"	"00006"	"GBA_000104"	"g.155204994_155205203delins155184367_155184588"	""	"{PMID:Pomponio 2005:16185907}"	""	"RecNciI"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000939638"	"2"	"90"	"1"	"155210452"	"155210452"	"dup"	"0"	"00006"	"GBA_000004"	"g.155210452dup"	""	"{PMID:Pomponio 2005:16185907}"	""	"84GG"	""	"Germline"	""	""	"0"	""	""	"g.155240661dup"	""	"pathogenic (recessive)"	""
"0000939639"	"0"	"10"	"1"	"155205331"	"155205331"	"subst"	"0"	"00006"	"GBA_000142"	"g.155205331T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"6144A>G"	""	"Germline"	""	""	"0"	""	""	"g.155235540T>C"	""	"benign"	""
"0000939640"	"0"	"10"	"1"	"155205331"	"155205331"	"subst"	"0"	"00006"	"GBA_000142"	"g.155205331T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"6144A>G"	""	"Germline"	""	""	"0"	""	""	"g.155235540T>C"	""	"benign"	""
"0000939641"	"0"	"10"	"1"	"155205331"	"155205331"	"subst"	"0"	"00006"	"GBA_000142"	"g.155205331T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"6144A>G"	""	"Germline"	""	""	"0"	""	""	"g.155235540T>C"	""	"benign"	""
"0000939642"	"0"	"10"	"1"	"155205331"	"155205331"	"subst"	"0"	"00006"	"GBA_000142"	"g.155205331T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"6144A>G"	""	"Germline"	""	""	"0"	""	""	"g.155235540T>C"	""	"benign"	""
"0000939643"	"3"	"10"	"1"	"155205331"	"155205331"	"subst"	"0"	"00006"	"GBA_000142"	"g.155205331T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"6144A>G"	""	"Germline"	""	""	"0"	""	""	"g.155235540T>C"	""	"benign"	""
"0000939644"	"2"	"10"	"1"	"155205331"	"155205331"	"subst"	"0"	"00006"	"GBA_000142"	"g.155205331T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"6144A>G"	""	"Germline"	""	""	"0"	""	""	"g.155235540T>C"	""	"benign"	""
"0000939645"	"2"	"10"	"1"	"155205331"	"155205331"	"subst"	"0"	"00006"	"GBA_000142"	"g.155205331T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"6144A>G"	""	"Germline"	""	""	"0"	""	""	"g.155235540T>C"	""	"benign"	""
"0000939646"	"0"	"10"	"1"	"155205331"	"155205331"	"subst"	"0"	"00006"	"GBA_000142"	"g.155205331T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"6144A>G"	""	"Germline"	""	""	"0"	""	""	"g.155235540T>C"	""	"benign"	""
"0000939647"	"2"	"10"	"1"	"155205331"	"155205331"	"subst"	"0"	"00006"	"GBA_000142"	"g.155205331T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"6144A>G"	""	"Germline"	""	""	"0"	""	""	"g.155235540T>C"	""	"benign"	""
"0000939648"	"0"	"10"	"1"	"155205331"	"155205331"	"subst"	"0"	"00006"	"GBA_000142"	"g.155205331T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"6144A>G"	""	"Germline"	""	""	"0"	""	""	"g.155235540T>C"	""	"benign"	""
"0000939649"	"2"	"10"	"1"	"155205331"	"155205331"	"subst"	"0"	"00006"	"GBA_000142"	"g.155205331T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"6144A>G"	""	"Germline"	""	""	"0"	""	""	"g.155235540T>C"	""	"benign"	""
"0000939650"	"1"	"10"	"1"	"155205331"	"155205331"	"subst"	"0"	"00006"	"GBA_000142"	"g.155205331T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"6144A>G"	""	"Germline"	""	""	"0"	""	""	"g.155235540T>C"	""	"benign"	""
"0000939651"	"0"	"10"	"1"	"155205331"	"155205331"	"subst"	"0"	"00006"	"GBA_000142"	"g.155205331T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"6144A>G"	""	"Germline"	""	""	"0"	""	""	"g.155235540T>C"	""	"benign"	""
"0000939652"	"2"	"10"	"1"	"155205331"	"155205331"	"subst"	"0"	"00006"	"GBA_000142"	"g.155205331T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"6144A>G"	""	"Germline"	""	""	"0"	""	""	"g.155235540T>C"	""	"benign"	""
"0000939653"	"0"	"10"	"1"	"155205331"	"155205331"	"subst"	"0"	"00006"	"GBA_000142"	"g.155205331T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"6144A>G"	""	"Germline"	""	""	"0"	""	""	"g.155235540T>C"	""	"benign"	""
"0000939654"	"2"	"10"	"1"	"155210452"	"155210452"	"dup"	"0"	"00006"	"GBA_000004"	"g.155210452dup"	""	"{PMID:Pomponio 2005:16185907}"	""	"84GG"	""	"Germline"	""	""	"0"	""	""	"g.155240661dup"	""	"benign"	""
"0000939655"	"0"	"10"	"1"	"155205331"	"155205331"	"subst"	"0"	"00006"	"GBA_000142"	"g.155205331T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"6144A>G"	""	"Germline"	""	""	"0"	""	""	"g.155235540T>C"	""	"benign"	""
"0000939656"	"2"	"90"	"1"	"155204994"	"155205203"	"delins"	"0"	"00006"	"GBA_000104"	"g.155204994_155205203delins155184367_155184579"	""	"{PMID:Pomponio 2005:16185907}"	""	"RecNciI"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000939657"	"2"	"90"	"1"	"155204994"	"155205203"	"delins"	"0"	"00006"	"GBA_000104"	"g.155204994_155205203delins155184367_155184579"	""	"{PMID:Pomponio 2005:16185907}"	""	"RecNciI"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000939658"	"2"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Pomponio 2005:16185907}"	""	"L444P"	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939659"	"0"	"10"	"1"	"155205331"	"155205331"	"subst"	"0"	"00006"	"GBA_000142"	"g.155205331T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"6144A>G"	""	"Germline"	""	""	"0"	""	""	"g.155235540T>C"	""	"benign"	""
"0000939660"	"2"	"90"	"1"	"155207220"	"155207220"	"subst"	"0"	"00006"	"GBA_000152"	"g.155207220C>T"	""	"{PMID:Pomponio 2005:16185907}"	""	"G265D"	""	"Germline"	""	""	"0"	""	""	"g.155237429C>T"	""	"pathogenic (recessive)"	""
"0000939661"	"2"	"10"	"1"	"155205331"	"155205331"	"subst"	"0"	"00006"	"GBA_000142"	"g.155205331T>C"	""	"{PMID:Pomponio 2005:16185907}"	""	"6144A>G"	""	"Germline"	""	""	"0"	""	""	"g.155235540T>C"	""	"benign"	""
"0000939662"	"2"	"90"	"1"	"155204994"	"155205203"	"delins"	"0"	"00006"	"GBA_000104"	"g.155204994_155205203delins155184367_155184584"	""	"{PMID:Pomponio 2005:16185907}"	""	"RecNciI"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000939713"	"3"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939714"	"3"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939715"	"3"	"90"	"1"	"155204987"	"155204987"	"subst"	"7.31826E-5"	"00006"	"GBA_000101"	"g.155204987G>A"	""	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.155235196G>A"	""	"pathogenic (recessive)"	""
"0000939716"	"3"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939717"	"3"	"90"	"1"	"155206067"	"155206067"	"subst"	"0"	"00006"	"GBA_000074"	"g.155206067C>T"	""	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.155236276C>T"	""	"pathogenic (recessive)"	""
"0000939718"	"3"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939719"	"3"	"90"	"1"	"155206079"	"155206079"	"subst"	"0"	"00006"	"GBA_000149"	"g.155206079C>T"	""	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.155236288C>T"	""	"pathogenic (recessive)"	""
"0000939720"	"3"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939721"	"3"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939722"	"3"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939723"	"3"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939724"	"3"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939725"	"3"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939726"	"3"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939727"	"3"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939728"	"3"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939729"	"3"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939730"	"3"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939731"	"3"	"90"	"1"	"155205560"	"155205560"	"subst"	"4.06128E-6"	"00006"	"GBA_000146"	"g.155205560G>A"	""	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.155235769G>A"	""	"pathogenic (recessive)"	""
"0000939732"	"3"	"90"	"1"	"155206089"	"155206089"	"subst"	"0"	"00006"	"GBA_000150"	"g.155206089C>T"	""	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.155236298C>T"	""	"pathogenic (recessive)"	""
"0000939733"	"3"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939734"	"3"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939735"	"3"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939736"	"3"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939737"	"3"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939738"	"3"	"90"	"1"	"155206076"	"155206076"	"subst"	"8.12183E-6"	"00006"	"GBA_000148"	"g.155206076G>A"	""	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.155236285G>A"	""	"pathogenic (recessive)"	""
"0000939739"	"3"	"90"	"1"	"155206167"	"155206167"	"subst"	"0.0106732"	"00006"	"GBA_000017"	"g.155206167C>T"	""	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.155236376C>T"	""	"pathogenic (recessive)"	""
"0000939740"	"3"	"90"	"1"	"155206167"	"155206167"	"subst"	"0.0106732"	"00006"	"GBA_000017"	"g.155206167C>T"	""	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.155236376C>T"	""	"pathogenic (recessive)"	""
"0000939741"	"3"	"90"	"1"	"155207265"	"155207265"	"subst"	"0"	"00006"	"GBA_000154"	"g.155207265C>G"	""	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.155237474C>G"	""	"pathogenic (recessive)"	""
"0000939742"	"3"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939743"	"3"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939744"	"3"	"90"	"1"	"155205043"	"155205043"	"subst"	"0.00130657"	"00006"	"GBA_000006"	"g.155205043A>G"	""	"{PMID:Ankleshwaria 2014:24522292}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.155235252A>G"	""	"pathogenic (recessive)"	""
"0000939745"	"1"	"90"	"1"	"155205094"	"155205094"	"subst"	"0"	"00006"	"GBA_000144"	"g.155205094A>C"	""	"{PMID:Ankleshwaria 2014:24522292}"	""	""	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.155235303A>C"	""	"pathogenic (recessive)"	""
"0000960544"	"0"	"50"	"1"	"155205605"	"155205605"	"subst"	"0"	"02327"	"GBA_000159"	"g.155205605C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000960545"	"0"	"50"	"1"	"155209737"	"155209737"	"subst"	"8.53187E-5"	"01804"	"GBA_000026"	"g.155209737G>A"	""	""	""	"GBA(NM_000157.3):c.247C>T (p.(Arg83Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000973357"	"0"	"30"	"1"	"155206144"	"155206144"	"subst"	"4.06058E-6"	"02326"	"GBA_000160"	"g.155206144G>A"	""	""	""	"GBA(NM_001005741.3):c.1116C>T (p.N372=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000973358"	"0"	"50"	"1"	"155208000"	"155208000"	"subst"	"1.62504E-5"	"01804"	"GBA_000161"	"g.155208000G>A"	""	""	""	"GBA(NM_000157.4):c.686C>T (p.(Ala229Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000973359"	"0"	"50"	"1"	"155208005"	"155208005"	"subst"	"1.21862E-5"	"01804"	"GBA_000162"	"g.155208005A>C"	""	""	""	"GBA(NM_000157.4):c.681T>G (p.(Asn227Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000973360"	"0"	"50"	"1"	"155208006"	"155208006"	"subst"	"7.71987E-5"	"01804"	"GBA_000046"	"g.155208006T>C"	""	""	""	"GBA(NM_000157.4):c.680A>G (p.(Asn227Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000973361"	"0"	"50"	"1"	"155208361"	"155208361"	"subst"	"0.000138342"	"01804"	"GBA_000039"	"g.155208361C>G"	""	""	""	"GBA(NM_000157.4):c.535G>C (p.(Asp179His)), GBA(NM_001005741.2):c.535G>C (p.D179H), GBA(NM_001005742.3):c.535G>C (p.D179H), GBA1(NM_001005741.3):c.5..."	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000990385"	"0"	"90"	"1"	"155204793"	"155204793"	"subst"	"0.000170269"	"01804"	"GBA_000057"	"g.155204793C>T"	""	""	""	"GBA(NM_000157.3):c.1604G>A (p.(Arg535His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000990386"	"0"	"90"	"1"	"155205634"	"155205634"	"subst"	"0.00232286"	"01804"	"GBA_000005"	"g.155205634T>C"	""	""	""	"GBA(NM_000157.3):c.1226A>G (p.(Asn409Ser)), GBA(NM_000157.4):c.1226A>G (p.N409S), GBA1(NM_001005741.3):c.1226A>G (p.N409S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000990387"	"0"	"50"	"1"	"155206036"	"155206036"	"subst"	"4.06643E-6"	"01804"	"GBA_000163"	"g.155206036C>G"	""	""	""	"GBA(NM_000157.3):c.1224G>C (p.(Thr408Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001016468"	"0"	"70"	"1"	"155207491"	"155209317"	"del"	"0"	"04769"	"GBA_000164"	"g.155207491_155209317del"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.155237700_155239526del"	""	"VUS"	""
"0001031313"	"0"	"50"	"1"	"155205002"	"155205002"	"subst"	"0"	"01804"	"GBA_000165"	"g.155205002C>T"	""	""	""	"GBA(NM_000157.4):c.1489G>A (p.(Val497Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001031314"	"0"	"50"	"1"	"155205008"	"155205008"	"subst"	"0.000138248"	"01804"	"GBA_000068"	"g.155205008C>G"	""	""	""	"GBA(NM_000157.4):c.1483G>C (p.(Ala495Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001031315"	"0"	"30"	"1"	"155205047"	"155205047"	"subst"	"0.000512291"	"01804"	"GBA_000013"	"g.155205047C>T"	""	""	""	"GBA(NM_000157.4):c.1444G>A (p.(Asp482Asn)), GBA(NM_001005741.2):c.1444G>A (p.D482N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001031316"	"0"	"50"	"1"	"155206036"	"155206036"	"subst"	"0.000321248"	"01804"	"GBA_000056"	"g.155206036C>T"	""	""	""	"GBA(NM_000157.4):c.1224G>A (p.(Thr408=)), GBA1(NM_001005741.3):c.1224G>A (p.T408=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001031317"	"0"	"50"	"1"	"155206051"	"155206051"	"subst"	"0"	"01804"	"GBA_000166"	"g.155206051G>C"	""	""	""	"GBA(NM_000157.4):c.1209C>G (p.(Ser403Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001031318"	"0"	"50"	"1"	"155207185"	"155207185"	"subst"	"1.21988E-5"	"02325"	"GBA_000167"	"g.155207185G>A"	""	""	""	"GBA1(NM_001005741.3):c.946C>T (p.R316C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001031319"	"0"	"90"	"1"	"155207983"	"155207983"	"subst"	"8.12203E-6"	"01804"	"GBA_000168"	"g.155207983A>G"	""	""	""	"GBA(NM_000157.4):c.703T>C (p.(Ser235Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001031320"	"0"	"50"	"1"	"155209752"	"155209752"	"subst"	"9.34336E-5"	"01804"	"GBA_000169"	"g.155209752G>A"	""	""	""	"GBA(NM_000157.4):c.232C>T (p.(Arg78Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001031321"	"0"	"50"	"1"	"155209863"	"155209863"	"subst"	"1.63465E-5"	"01804"	"GBA_000170"	"g.155209863G>A"	""	""	""	"GBA(NM_000157.4):c.121C>T (p.(Arg41Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001045594"	"0"	"90"	"1"	"155210420"	"155210420"	"subst"	"7.32995E-5"	"02327"	"GBA_000008"	"g.155210420C>T"	""	""	""	"GBA(NM_000157.4):c.115+1G>A"	"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 GBA
## Count = 531
"{{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}}"
"0000000080"	"00000025"	"50"	"1200"	"0"	"1200"	"0"	"c.1200G>A"	"r.(?)"	"p.(Met400Ile)"	""
"0000000083"	"00000025"	"50"	"84"	"0"	"84"	"0"	"c.84dup"	"r.(?)"	"p.(Leu29Alafs*18)"	""
"0000000084"	"00000025"	"50"	"1226"	"0"	"1226"	"0"	"c.1226A>G"	"r.(?)"	"p.(Asn409Ser)"	""
"0000000086"	"00000025"	"50"	"1226"	"0"	"1226"	"0"	"c.1226A>G"	"r.(?)"	"p.(Asn409Ser)"	""
"0000000087"	"00000025"	"50"	"1226"	"0"	"1226"	"0"	"c.1226A>G"	"r.(?)"	"p.(Asn409Ser)"	""
"0000000088"	"00000025"	"50"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000000089"	"00000025"	"50"	"1361"	"0"	"1361"	"0"	"c.1361C>G"	"r.(?)"	"p.(Pro454Arg)"	""
"0000000090"	"00000025"	"50"	"115"	"1"	"115"	"1"	"c.115+1G>A"	"r.(=)"	"p.(=)"	""
"0000130049"	"00000025"	"90"	"820"	"0"	"820"	"0"	"c.820G>A"	"r.(?)"	"p.(Glu274Lys)"	""
"0000248139"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000250182"	"00000025"	"10"	"762"	"-18"	"762"	"-18"	"c.762-18T>A"	"r.(=)"	"p.(=)"	""
"0000254658"	"00000025"	"30"	"44"	"0"	"44"	"0"	"c.44T>C"	"r.(?)"	"p.(Leu15Ser)"	""
"0000254788"	"00000025"	"30"	"693"	"0"	"693"	"0"	"c.693T>C"	"r.(?)"	"p.(Asn231=)"	""
"0000255397"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000281001"	"00000025"	"30"	"1093"	"0"	"1093"	"0"	"c.1093G>A"	"r.(?)"	"p.(Glu365Lys)"	""
"0000281002"	"00000025"	"30"	"1223"	"0"	"1223"	"0"	"c.1223C>T"	"r.(?)"	"p.(Thr408Met)"	""
"0000283350"	"00000025"	"10"	"1093"	"0"	"1093"	"0"	"c.1093G>A"	"r.(?)"	"p.(Glu365Lys)"	""
"0000283351"	"00000025"	"30"	"1223"	"0"	"1223"	"0"	"c.1223C>T"	"r.(?)"	"p.(Thr408Met)"	""
"0000284599"	"00000025"	"30"	"1093"	"0"	"1093"	"0"	"c.1093G>A"	"r.(?)"	"p.(Glu365Lys)"	""
"0000288235"	"00000025"	"30"	"1092"	"0"	"1092"	"0"	"c.1092G>A"	"r.(?)"	"p.(Gly364=)"	""
"0000288236"	"00000025"	"30"	"1093"	"0"	"1093"	"0"	"c.1093G>A"	"r.(?)"	"p.(Glu365Lys)"	""
"0000288237"	"00000025"	"90"	"115"	"1"	"115"	"1"	"c.115+1G>A"	"r.spl?"	"p.?"	""
"0000288238"	"00000025"	"90"	"1226"	"0"	"1226"	"0"	"c.1226A>G"	"r.(?)"	"p.(Asn409Ser)"	""
"0000288239"	"00000025"	"90"	"1342"	"0"	"1342"	"0"	"c.1342G>C"	"r.(?)"	"p.(Asp448His)"	""
"0000288240"	"00000025"	"30"	"1444"	"0"	"1444"	"0"	"c.1444G>A"	"r.(?)"	"p.(Asp482Asn)"	""
"0000288241"	"00000025"	"30"	"46"	"0"	"46"	"0"	"c.46A>G"	"r.(?)"	"p.(Ser16Gly)"	""
"0000288242"	"00000025"	"30"	"474"	"0"	"474"	"0"	"c.474C>T"	"r.(?)"	"p.(Ile158=)"	""
"0000288243"	"00000025"	"30"	"58"	"0"	"58"	"0"	"c.58A>C"	"r.(?)"	"p.(Ile20Leu)"	""
"0000288244"	"00000025"	"30"	"837"	"0"	"837"	"0"	"c.837G>T"	"r.(?)"	"p.(Leu279=)"	""
"0000321024"	"00000025"	"50"	"1475"	"0"	"1475"	"0"	"c.1475A>T"	"r.(?)"	"p.(Asp492Val)"	""
"0000321025"	"00000025"	"50"	"1474"	"0"	"1474"	"0"	"c.1474G>C"	"r.(?)"	"p.(Asp492His)"	""
"0000321026"	"00000025"	"50"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000321027"	"00000025"	"30"	"917"	"0"	"917"	"0"	"c.917C>T"	"r.(?)"	"p.(Thr306Ile)"	""
"0000321029"	"00000025"	"30"	"-7003"	"0"	"-7003"	"0"	"c.-7003C>T"	"r.(?)"	"p.(=)"	""
"0000454880"	"00000025"	"30"	"1226"	"0"	"1226"	"0"	"c.1226A>G"	"r.(?)"	"p.(Asn409Ser)"	""
"0000503546"	"00000025"	"50"	"1600"	"0"	"1600"	"0"	"c.1600C>T"	"r.(?)"	"p.(Arg534Cys)"	""
"0000503547"	"00000025"	"30"	"1497"	"0"	"1497"	"0"	"c.1497G>C"	"r.(?)"	"p.(Val499=)"	""
"0000503548"	"00000025"	"50"	"1475"	"0"	"1475"	"0"	"c.1475A>T"	"r.(?)"	"p.(Asp492Val)"	""
"0000503549"	"00000025"	"50"	"1474"	"0"	"1474"	"0"	"c.1474G>C"	"r.(?)"	"p.(Asp492His)"	""
"0000503550"	"00000025"	"30"	"1455"	"0"	"1455"	"0"	"c.1455A>G"	"r.(?)"	"p.(Ala485=)"	""
"0000503552"	"00000025"	"90"	"1226"	"0"	"1226"	"0"	"c.1226A>G"	"r.(?)"	"p.(Asn409Ser)"	""
"0000503555"	"00000025"	"70"	"1088"	"0"	"1088"	"0"	"c.1088T>C"	"r.(?)"	"p.(Leu363Pro)"	""
"0000503556"	"00000025"	"70"	"896"	"0"	"896"	"0"	"c.896T>C"	"r.(?)"	"p.(Ile299Thr)"	""
"0000503557"	"00000025"	"50"	"802"	"0"	"802"	"0"	"c.802G>A"	"r.(?)"	"p.(Ala268Thr)"	""
"0000503558"	"00000025"	"50"	"721"	"0"	"721"	"0"	"c.721G>A"	"r.(?)"	"p.(Gly241Arg)"	""
"0000503559"	"00000025"	"30"	"702"	"0"	"702"	"0"	"c.702G>T"	"r.(?)"	"p.(Gly234=)"	""
"0000503560"	"00000025"	"50"	"586"	"0"	"586"	"0"	"c.586A>C"	"r.(?)"	"p.(Lys196Gln)"	""
"0000503561"	"00000025"	"90"	"535"	"0"	"535"	"0"	"c.535G>C"	"r.(?)"	"p.(Asp179His)"	""
"0000503562"	"00000025"	"90"	"535"	"0"	"535"	"0"	"c.535G>C"	"r.(?)"	"p.(Asp179His)"	""
"0000503563"	"00000025"	"50"	"535"	"0"	"535"	"0"	"c.535G>C"	"r.(?)"	"p.(Asp179His)"	""
"0000503565"	"00000025"	"30"	"168"	"0"	"168"	"0"	"c.168C>T"	"r.(?)"	"p.(Val56=)"	""
"0000604844"	"00000025"	"70"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000604846"	"00000025"	"90"	"259"	"0"	"259"	"0"	"c.259C>T"	"r.(?)"	"p.(Arg87Trp)"	""
"0000620405"	"00000025"	"50"	"865"	"0"	"865"	"0"	"c.865G>A"	"r.(?)"	"p.(Gly289Ser)"	""
"0000620406"	"00000025"	"30"	"687"	"0"	"687"	"0"	"c.687G>A"	"r.(?)"	"p.(Ala229=)"	""
"0000647385"	"00000025"	"50"	"1093"	"0"	"1093"	"0"	"c.1093G>A"	"r.(?)"	"p.(Glu365Lys)"	""
"0000647386"	"00000025"	"50"	"882"	"0"	"882"	"0"	"c.882T>G"	"r.(?)"	"p.(His294Gln)"	""
"0000647387"	"00000025"	"70"	"680"	"0"	"680"	"0"	"c.680A>G"	"r.(?)"	"p.(Asn227Ser)"	""
"0000653296"	"00000025"	"90"	"508"	"0"	"508"	"0"	"c.508C>T"	"r.(?)"	"p.(Arg170Cys)"	""
"0000653325"	"00000025"	"90"	"1604"	"0"	"1604"	"0"	"c.1604G>A"	"r.(?)"	"p.(Arg535His)"	""
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"0000848321"	"00000025"	"50"	"754"	"0"	"754"	"0"	"c.754T>G"	"r.(?)"	"p.(Phe252Val)"	""
"0000848322"	"00000025"	"50"	"586"	"0"	"586"	"0"	"c.586A>C"	"r.(?)"	"p.(Lys196Gln)"	""
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"0000857040"	"00000025"	"30"	"882"	"0"	"882"	"0"	"c.882T>G"	"r.(?)"	"p.(His294Gln)"	""
"0000857041"	"00000025"	"50"	"26"	"0"	"27"	"0"	"c.26_27del"	"r.(?)"	"p.(Glu9Glyfs*8)"	""
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"0000906102"	"00000025"	"90"	"1226"	"0"	"1226"	"0"	"c.1226A>G"	"r.(?)"	"p.(Asn409Ser)"	""
"0000906103"	"00000025"	"90"	"1226"	"0"	"1226"	"0"	"c.1226A>G"	"r.(?)"	"p.(Asn409Ser)"	""
"0000906159"	"00000025"	"90"	"667"	"0"	"667"	"0"	"c.667T>C"	"r.(?)"	"p.(Trp223Arg)"	""
"0000906160"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000906161"	"00000025"	"90"	"1604"	"0"	"1604"	"0"	"c.1604G>A"	"r.(?)"	"p.(Arg535His)"	""
"0000910789"	"00000025"	"50"	"928"	"0"	"928"	"0"	"c.928A>G"	"r.(?)"	"p.(Ser310Gly)"	""
"0000922962"	"00000025"	"50"	"1474"	"0"	"1475"	"0"	"c.1474_1475delinsCT"	"r.(?)"	"p.(Asp492Leu)"	""
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"0000927679"	"00000025"	"70"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000927681"	"00000025"	"70"	"1297"	"0"	"1297"	"0"	"c.1297G>Y"	"r.(?)"	"p.(Val433Leu)"	""
"0000927684"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000927695"	"00000025"	"70"	"475"	"0"	"475"	"0"	"c.475C>T"	"r.(?)"	"p.(Arg159Trp)"	""
"0000927696"	"00000025"	"70"	"1604"	"0"	"1604"	"0"	"c.1604G>A"	"r.(?)"	"p.(Arg535His)"	""
"0000927697"	"00000025"	"50"	"84"	"0"	"84"	"0"	"c.84dup"	"r.(?)"	"p.(Leu29Alafs*18)"	""
"0000927705"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000927706"	"00000025"	"90"	"1226"	"0"	"1226"	"0"	"c.1226A>G"	"r.(?)"	"p.(Asn409Ser)"	""
"0000927707"	"00000025"	"90"	"1226"	"0"	"1226"	"0"	"c.1226A>G"	"r.(?)"	"p.(Asn409Ser)"	""
"0000927709"	"00000025"	"90"	"1246"	"0"	"1246"	"0"	"c.1246G>A"	"r.(?)"	"p.(Gly416Ser)"	""
"0000927731"	"00000025"	"70"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000927732"	"00000025"	"70"	"1342"	"0"	"1342"	"0"	"c.1342G>C"	"r.(?)"	"p.(Asp448His)"	""
"0000927733"	"00000025"	"70"	"680"	"0"	"680"	"0"	"c.680A>G"	"r.(?)"	"p.(Asn227Ser)"	""
"0000927734"	"00000025"	"70"	"1304"	"0"	"1304"	"0"	"c.1304A>C"	"r.(?)"	"p.(Asn435Thr)"	""
"0000927735"	"00000025"	"70"	"475"	"0"	"475"	"0"	"c.475C>T"	"r.(?)"	"p.(Arg159Trp)"	""
"0000927737"	"00000025"	"90"	"1226"	"0"	"1226"	"0"	"c.1226A>G"	"r.(?)"	"p.(Asn409Ser)"	""
"0000927738"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000927740"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000927741"	"00000025"	"90"	"1483"	"0"	"1483"	"0"	"c.1483G>C"	"r.(?)"	"p.(Ala495Pro)"	""
"0000927743"	"00000025"	"90"	"1497"	"0"	"1497"	"0"	"c.1497G>C"	"r.(=)"	"p.(=)"	""
"0000927744"	"00000025"	"90"	"1226"	"0"	"1226"	"0"	"c.1226A>G"	"r.(?)"	"p.(Asn409Ser)"	""
"0000927745"	"00000025"	"90"	"1289"	"0"	"1289"	"0"	"c.1289C>T"	"r.(?)"	"p.(Pro430Leu)"	""
"0000927746"	"00000025"	"90"	"1226"	"0"	"1226"	"0"	"c.1226A>G"	"r.(?)"	"p.(Asn409Ser)"	""
"0000927748"	"00000025"	"90"	"1226"	"0"	"1226"	"0"	"c.1226A>G"	"r.(?)"	"p.(Asn409Ser)"	""
"0000927751"	"00000025"	"90"	"1226"	"0"	"1226"	"0"	"c.1226A>G"	"r.(?)"	"p.(Asn409Ser)"	""
"0000927752"	"00000025"	"90"	"1451"	"0"	"1452"	"0"	"c.1451_1452del"	"r.(?)"	"p.(Asp484Glyfs*21)"	""
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"0000927754"	"00000025"	"90"	"1054"	"0"	"1054"	"0"	"c.1054T>C"	"r.(?)"	"p.(Tyr352His)"	""
"0000927755"	"00000025"	"90"	"1226"	"0"	"1226"	"0"	"c.1226A>G"	"r.(?)"	"p.(Asn409Ser)"	""
"0000927756"	"00000025"	"90"	"1098"	"0"	"1098"	"0"	"c.1098dup"	"r.(?)"	"p.(His367Thrfs*69)"	""
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"0000927758"	"00000025"	"90"	"1193"	"0"	"1193"	"0"	"c.1193G>A"	"r.(?)"	"p.(Arg398Gln)"	""
"0000927759"	"00000025"	"90"	"1226"	"0"	"1226"	"0"	"c.1226A>G"	"r.(?)"	"p.(Asn409Ser)"	""
"0000927761"	"00000025"	"90"	"1265"	"0"	"1319"	"0"	"c.1265_1319del"	"r.(?)"	"p.(Leu422Profs*4)"	""
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"0000927763"	"00000025"	"90"	"500"	"0"	"500"	"0"	"c.500dup"	"r.(?)"	"p.(Ser168Leufs*12)"	""
"0000927764"	"00000025"	"90"	"1226"	"0"	"1226"	"0"	"c.1226A>G"	"r.(?)"	"p.(Asn409Ser)"	""
"0000927765"	"00000025"	"90"	"517"	"0"	"517"	"0"	"c.517A>C"	"r.(?)"	"p.(Thr173Pro)"	""
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"0000927767"	"00000025"	"90"	"108"	"0"	"108"	"0"	"c.108G>A"	"r.(?)"	"p.(Trp36*)"	""
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"0000927769"	"00000025"	"50"	"455"	"0"	"455"	"0"	"c.455G>A"	"r.(?)"	"p.(Gly152Glu)"	""
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"0000927771"	"00000025"	"50"	"721"	"0"	"721"	"0"	"c.721G>A"	"r.(?)"	"p.(Gly241Arg)"	""
"0000927772"	"00000025"	"90"	"1226"	"0"	"1226"	"0"	"c.1226A>G"	"r.(?)"	"p.(Asn409Ser)"	""
"0000927773"	"00000025"	"90"	"588"	"1"	"588"	"1"	"c.588+1G>T"	"r.spl"	"p.?"	""
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"0000927775"	"00000025"	"50"	"701"	"0"	"701"	"0"	"c.701G>A"	"r.(?)"	"p.(Gly234Glu)"	""
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"0000927777"	"00000025"	"50"	"1351"	"0"	"1351"	"0"	"c.1351T>C"	"r.(?)"	"p.(Tyr451His)"	""
"0000927782"	"00000025"	"90"	"1226"	"0"	"1226"	"0"	"c.1226A>G"	"r.(?)"	"p.(Asn409Ser)"	""
"0000927783"	"00000025"	"90"	"886"	"0"	"886"	"0"	"c.886C>T"	"r.(?)"	"p.(Arg296*)"	""
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"0000927785"	"00000025"	"90"	"622"	"0"	"622"	"0"	"c.622C>T"	"r.(?)"	"p.(Gln208*)"	""
"0000927786"	"00000025"	"90"	"1342"	"0"	"1342"	"0"	"c.1342G>C"	"r.(?)"	"p.(Asp448His)"	""
"0000927787"	"00000025"	"70"	"1093"	"0"	"1093"	"0"	"c.1093G>A"	"r.(?)"	"p.(Glu365Lys)"	""
"0000928023"	"00000025"	"30"	"1455"	"0"	"1455"	"0"	"c.1455A>G"	"r.(?)"	"p.(Ala485=)"	""
"0000939323"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000939324"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000939325"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000939326"	"00000025"	"90"	"1208"	"0"	"1208"	"0"	"c.1208G>C"	"r.(?)"	"p.(Ser403Thr)"	""
"0000939327"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000939328"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000939329"	"00000025"	"90"	"1053"	"0"	"1053"	"0"	"c.1053G>T"	"r.(?)"	"p.(Trp351Cys)"	""
"0000939330"	"00000025"	"90"	"1043"	"0"	"1043"	"0"	"c.1043C>T"	"r.(?)"	"p.(Ala348Val)"	""
"0000939331"	"00000025"	"90"	"1226"	"0"	"1226"	"0"	"c.1226A>G"	"r.(?)"	"p.(Asn409Ser)"	""
"0000939332"	"00000025"	"90"	"1226"	"0"	"1226"	"0"	"c.1226A>G"	"r.(?)"	"p.(Asn409Ser)"	""
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"0000939334"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000939335"	"00000025"	"90"	"586"	"0"	"586"	"0"	"c.586A>C"	"r.(?)"	"p.(Lys196Gln)"	""
"0000939336"	"00000025"	"90"	"1343"	"0"	"1343"	"0"	"c.1343A>T"	"r.(?)"	"p.(Asp448Val)"	""
"0000939337"	"00000025"	"90"	"476"	"0"	"754"	"0"	"c.476_754delins[NR_002188.2:n.522_801del]"	"r.(?)"	"p.(Arg159Trp;Trp223Arg;Asn227Lys;Val230Gly;Ser235Pro;Gly241Arg;Phe252Ile)"	""
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"0000939340"	"00000025"	"90"	"73"	"0"	"73"	"0"	"c.73del"	"r(?)"	"p.(Leu25SerfsTer66)"	""
"0000939341"	"00000025"	"90"	"481"	"0"	"481"	"0"	"c.481C>T"	"r(?)"	"p.(Pro161Ser)"	""
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"0000939348"	"00000025"	"90"	"1265"	"0"	"1319"	"0"	"c.1265_1319del"	"r(?)"	"p.(Leu422ProfsTer4)"	""
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"0000939350"	"00000025"	"90"	"1226"	"0"	"1226"	"0"	"c.1226A>G"	"r(?)"	"p.(Asn409Ser)"	""
"0000939351"	"00000025"	"90"	"84"	"0"	"84"	"0"	"c.84dup"	"r(?)"	"p.(Leu29AlafsTer18)"	""
"0000939352"	"00000025"	"90"	"84"	"0"	"84"	"0"	"c.84dup"	"r(?)"	"p.(Leu29AlafsTer18)"	""
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"0000939354"	"00000025"	"90"	"84"	"0"	"84"	"0"	"c.84dup"	"r(?)"	"p.(Leu29AlafsTer18)"	""
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"0000939360"	"00000025"	"90"	"1226"	"0"	"1226"	"0"	"c.1226A>G"	"r.(?)"	"p.(Asn409Ser)"	""
"0000939361"	"00000025"	"90"	"1448"	"0"	"21980"	"0"	"c.1448_*20369delins[NR_002188.2:n.1329_2036]"	"r.[1448u>c;1483g>c;1497g>c;*92g>a]"	"p.[Leu483Pro;Ala495Pro]"	"_10_11_"
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"0000939363"	"00000025"	"90"	"1226"	"0"	"1226"	"0"	"c.1226A>G"	"r(?)"	"p.(Asn409Ser)"	""
"0000939364"	"00000025"	"90"	"1226"	"0"	"1226"	"0"	"c.1226A>G"	"r(?)"	"p.(Asn409Ser)"	""
"0000939365"	"00000025"	"90"	"1226"	"0"	"1226"	"0"	"c.1226A>G"	"r(?)"	"p.(Asn409Ser)"	""
"0000939366"	"00000025"	"90"	"1226"	"0"	"1226"	"0"	"c.1226A>G"	"r(?)"	"p.(Asn409Ser)"	""
"0000939367"	"00000025"	"90"	"1226"	"0"	"1226"	"0"	"c.1226A>G"	"r(?)"	"p.(Asn409Ser)"	""
"0000939368"	"00000025"	"90"	"1226"	"0"	"1226"	"0"	"c.1226A>G"	"r(?)"	"p.(Asn409Ser)"	""
"0000939369"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r(?)"	"p.(Leu483Pro)"	""
"0000939370"	"00000025"	"90"	"1604"	"0"	"1604"	"0"	"c.1604G>A"	"r(?)"	"p.(Arg535His)"	""
"0000939371"	"00000025"	"90"	"1226"	"0"	"1226"	"0"	"c.1226A>G"	"r(?)"	"p.(Asn409Ser)"	""
"0000939372"	"00000025"	"90"	"84"	"0"	"84"	"0"	"c.84dup"	"r(?)"	"p.(Leu29AlafsTer18)"	""
"0000939373"	"00000025"	"90"	"115"	"1"	"115"	"1"	"c.115+1G>A"	"r.spl"	"p.?"	""
"0000939374"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r(?)"	"p.(Leu483Pro)"	""
"0000939375"	"00000025"	"90"	"1297"	"0"	"1297"	"0"	"c.1297G>T"	"r(?)"	"p.(Val433Leu)"	""
"0000939376"	"00000025"	"90"	"1448"	"0"	"21980"	"0"	"c.1448_*20369delins[NR_002188.2:n.1329_2036]"	"r(?)"	"p.[(Leu483Pro;Ala495Pro)]"	""
"0000939377"	"00000025"	"90"	"751"	"0"	"751"	"0"	"c.751T>C"	"r(?)"	"p.(Tyr251His)"	""
"0000939378"	"00000025"	"90"	"1504"	"0"	"1504"	"0"	"c.1504C>T"	"r(?)"	"p.(Arg502Cys)"	""
"0000939379"	"00000025"	"90"	"84"	"0"	"84"	"0"	"c.84dup"	"r(?)"	"p.(Leu29AlafsTer18)"	""
"0000939380"	"00000025"	"90"	"254"	"0"	"254"	"0"	"c.254G>A"	"r(?)"	"p.(Gly85Glu)"	""
"0000939381"	"00000025"	"90"	"160"	"0"	"160"	"0"	"c.160G>T"	"r(?)"	"p.(Val54Leu)"	""
"0000939382"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r(?)"	"p.(Leu483Pro)"	""
"0000939383"	"00000025"	"90"	"254"	"0"	"254"	"0"	"c.254G>A"	"r(?)"	"p.(Gly85Glu)"	""
"0000939384"	"00000025"	"90"	"680"	"0"	"680"	"0"	"c.680A>G"	"r(?)"	"p.(Asn227Ser)"	""
"0000939385"	"00000025"	"90"	"680"	"0"	"680"	"0"	"c.680A>G"	"r(?)"	"p.(Asn227Ser)"	""
"0000939386"	"00000025"	"90"	"680"	"0"	"680"	"0"	"c.680A>G"	"r(?)"	"p.(Asn227Ser)"	""
"0000939387"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r(?)"	"p.(Leu483Pro)"	""
"0000939388"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r(?)"	"p.(Leu483Pro)"	""
"0000939389"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r(?)"	"p.(Leu483Pro)"	""
"0000939390"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r(?)"	"p.(Leu483Pro)"	""
"0000939391"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r(?)"	"p.(Leu483Pro)"	""
"0000939392"	"00000025"	"90"	"1226"	"0"	"1226"	"0"	"c.1226A>G"	"r(?)"	"p.(Asn409Ser)"	""
"0000939393"	"00000025"	"90"	"259"	"0"	"259"	"0"	"c.259C>T"	"r(?)"	"p.(Arg87Trp)"	""
"0000939394"	"00000025"	"90"	"1226"	"0"	"1226"	"0"	"c.1226A>G"	"r(?)"	"p.(Asn409Ser)"	""
"0000939395"	"00000025"	"90"	"1226"	"0"	"1226"	"0"	"c.1226A>G"	"r(?)"	"p.(Asn409Ser)"	""
"0000939396"	"00000025"	"90"	"1601"	"0"	"1601"	"0"	"c.1601G>A"	"r(?)"	"p.(Arg534His)"	""
"0000939397"	"00000025"	"90"	"259"	"0"	"259"	"0"	"c.259C>T"	"r(?)"	"p.(Arg87Trp)"	""
"0000939398"	"00000025"	"90"	"245"	"0"	"245"	"0"	"c.245C>T"	"r(?)"	"p.(Thr82Ile)"	""
"0000939399"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>G"	"r(?)"	"p.(Leu483Arg)"	""
"0000939400"	"00000025"	"90"	"635"	"0"	"635"	"0"	"c.635C>G"	"r(?)"	"p.(Ser212Ter)"	""
"0000939401"	"00000025"	"90"	"914"	"0"	"914"	"0"	"c.914del"	"r(?)"	"p.(Pro305LeufsTer31)"	""
"0000939402"	"00000025"	"90"	"1505"	"2"	"1505"	"2"	"c.1505+2T>G"	"r.1389_1505del"	"p.Lys464_Arg502del"	""
"0000939403"	"00000025"	"90"	"586"	"0"	"586"	"0"	"c.586A>C"	"r.586a>c"	"p.Lys196Gln"	""
"0000939404"	"00000025"	"70"	"535"	"0"	"535"	"0"	"c.535G>C"	"r.535g>c"	"p.Asp179His"	""
"0000939405"	"00000025"	"70"	"1093"	"0"	"1093"	"0"	"c.1093G>A"	"r.1093g>a"	"p.Glu365Lys"	""
"0000939406"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.1448u>C"	"p.Leu483Pro"	""
"0000939407"	"00000025"	"90"	"649"	"0"	"649"	"0"	"c.649C>T"	"r.649c>u"	"p.Pro217Ser"	""
"0000939408"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000939409"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000939410"	"00000025"	"90"	"1213"	"0"	"1213"	"0"	"c.1213A>G"	"r.(?)"	"p.(Ser405Gly)"	""
"0000939411"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000939412"	"00000025"	"90"	"1354"	"0"	"1354"	"0"	"c.1354A>C"	"r.(?)"	"p.(Lys452Gln)"	""
"0000939413"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000939414"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000939415"	"00000025"	"90"	"754"	"0"	"754"	"0"	"c.754T>A"	"r.(?)"	"p.(Phe252Ile)"	""
"0000939416"	"00000025"	"90"	"1603"	"0"	"1603"	"0"	"c.1603C>T"	"r(?)"	"p.(Arg535Cys)"	""
"0000939417"	"00000025"	"90"	"1342"	"0"	"1342"	"0"	"c.1342G>C"	"r.(?)"	"p.(Asp448His)"	""
"0000939418"	"00000025"	"90"	"1447"	"0"	"1466"	"0"	"c.1447_1466delinsTG"	"r.(?)"	"p.(Leu483_Met489delinsTrp)"	""
"0000939419"	"00000025"	"90"	"1193"	"0"	"1193"	"0"	"c.1193G>A"	"r.(?)"	"p.(Arg398Gln)"	""
"0000939420"	"00000025"	"90"	"1246"	"0"	"1246"	"0"	"c.1246G>A"	"r.(?)"	"p.(Gly416Ser)"	""
"0000939421"	"00000025"	"90"	"1390"	"0"	"1390"	"0"	"c.1390A>G"	"r(?)"	"p.(Lys464Glu)"	""
"0000939422"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>G"	"r.(?)"	"p.(Leu483Arg)"	""
"0000939423"	"00000025"	"90"	"1504"	"0"	"1504"	"0"	"c.1504C>T"	"r(?)"	"p.(Arg502Cys)"	""
"0000939424"	"00000025"	"90"	"115"	"1"	"115"	"1"	"c.115+1G>A"	"r.spl"	"p.?"	""
"0000939425"	"00000025"	"90"	"1505"	"0"	"1505"	"0"	"c.1505G>A"	"r.spl"	"p.?"	""
"0000939426"	"00000025"	"90"	"683"	"0"	"683"	"0"	"c.683G>T"	"r(?)"	"p.(Gly228Val)"	""
"0000939427"	"00000025"	"90"	"683"	"0"	"683"	"0"	"c.683G>T"	"r(?)"	"p.(Gly228Val)"	""
"0000939428"	"00000025"	"90"	"1213"	"0"	"1213"	"0"	"c.1213A>G"	"r.(?)"	"p.(Ser405Gly)"	""
"0000939429"	"00000025"	"90"	"1414"	"0"	"1414"	"0"	"c.1414A>G"	"r(?)"	"p.(Arg472Gly)"	""
"0000939430"	"00000025"	"90"	"754"	"0"	"754"	"0"	"c.754T>A"	"r.(?)"	"p.(Phe252Ile)"	""
"0000939431"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000939432"	"00000025"	"90"	"764"	"0"	"764"	"0"	"c.764T>A"	"r.(?)"	"p.(Phe255Tyr)"	""
"0000939433"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000939434"	"00000025"	"90"	"914"	"0"	"914"	"0"	"c.914C>G"	"r.(?)"	"p.(Pro305Arg)"	""
"0000939435"	"00000025"	"90"	"1226"	"0"	"1226"	"0"	"c.1226A>G"	"r.(?)"	"p.(Asn409Ser)"	""
"0000939436"	"00000025"	"90"	"1060"	"0"	"1060"	"0"	"c.1060G>C"	"r.(?)"	"p.(Asp354His)"	""
"0000939437"	"00000025"	"90"	"1226"	"0"	"1226"	"0"	"c.1226A>G"	"r.(?)"	"p.(Asn409Ser)"	""
"0000939438"	"00000025"	"90"	"1070"	"0"	"1070"	"0"	"c.1070C>A"	"r.(?)"	"p.(Ala357Asp)"	""
"0000939439"	"00000025"	"90"	"754"	"0"	"754"	"0"	"c.754T>A"	"r.754u>a"	"p.(he252Ile"	""
"0000939440"	"00000025"	"90"	"983"	"0"	"983"	"0"	"c.983C>T"	"r.983c>u"	"p.Pro328Leu"	""
"0000939441"	"00000025"	"90"	"1085"	"0"	"1085"	"0"	"c.1085C>T"	"r.1085c>u"	"p.Thr362Ile"	""
"0000939442"	"00000025"	"90"	"1504"	"0"	"1504"	"0"	"c.1504C>T"	"r.1504c>u"	"p.Arg502Cys"	""
"0000939443"	"00000025"	"90"	"1090"	"0"	"1090"	"0"	"c.1090G>A"	"r.1090g>a"	"p.Gly364Arg"	""
"0000939444"	"00000025"	"90"	"1141"	"0"	"1141"	"0"	"c.1141T>G"	"r.1141u>g"	"p.Cys381Gly"	""
"0000939445"	"00000025"	"90"	"1389"	"0"	"1497"	"0"	"c.1389_1497delins[NR_002188.2:n.1271_1379del]"	"r.[1448u>c;1483g>c;1497g>c]"	"p.[Leu483Pro;Ala495Pro]"	"9i_9"
"0000939446"	"00000025"	"90"	"1342"	"0"	"1497"	"0"	"c.1342_1497delins[NR_002188.2:n.1271_1379del]"	"r.[1342g>c;1448u>c;1483g>c;1497g>c]"	"p.[Asp448His;Leu483Pro;Ala495Pro]"	""
"0000939447"	"00000025"	"90"	"1342"	"0"	"1342"	"0"	"c.1342G>C"	"r.1342g>c"	"p.Asp448His"	""
"0000939448"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.1448u>c"	"p.Leu483Pro"	""
"0000939449"	"00000025"	"90"	"1192"	"0"	"1192"	"0"	"c.1192C>T"	"r.(?)"	"p.(Arg398*)"	""
"0000939450"	"00000025"	"90"	"1192"	"0"	"1192"	"0"	"c.1192C>T"	"r.(?)"	"p.(Arg398*)"	""
"0000939451"	"00000025"	"90"	"1192"	"0"	"1192"	"0"	"c.1192C>T"	"r.(?)"	"p.(Arg398*)"	""
"0000939452"	"00000025"	"90"	"1312"	"0"	"1312"	"0"	"c.1312G>A"	"r.(?)"	"p.(Asp438Asn)"	""
"0000939453"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000939454"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000939455"	"00000025"	"90"	"1226"	"0"	"1226"	"0"	"c.1226A>G"	"r.(?)"	"p.(Asn409Ser)"	""
"0000939456"	"00000025"	"90"	"1226"	"0"	"1226"	"0"	"c.1226A>G"	"r.(?)"	"p.(Asn409Ser)"	""
"0000939457"	"00000025"	"90"	"1603"	"0"	"1603"	"0"	"c.1603C>T"	"r.(?)"	"p.(Arg535Cys)"	""
"0000939458"	"00000025"	"90"	"1226"	"0"	"1226"	"0"	"c.1226A>G"	"r.(?)"	"p.(Asn409Ser)"	""
"0000939459"	"00000025"	"90"	"1246"	"0"	"1246"	"0"	"c.1246G>A"	"r.(?)"	"p.(Gly416Ser)"	""
"0000939460"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000939461"	"00000025"	"90"	"1256"	"0"	"1256"	"0"	"c.1256A>C"	"r.(?)"	"p.(Asp419Ala)"	""
"0000939462"	"00000025"	"90"	"1265"	"0"	"1319"	"0"	"c.1265_1319del"	"r.(?)"	"p.(Leu422Profs*4)"	""
"0000939463"	"00000025"	"90"	"1297"	"0"	"1297"	"0"	"c.1297G>T"	"r.1297g>u"	"p.Val433Leu"	""
"0000939464"	"00000025"	"90"	"1297"	"0"	"1297"	"0"	"c.1297G>T"	"r.1297g>u"	"p.Val433Leu"	""
"0000939465"	"00000025"	"90"	"1342"	"0"	"1342"	"0"	"c.1342G>C"	"r.(?)"	"p.(Asp448His)"	""
"0000939466"	"00000025"	"90"	"1342"	"0"	"1342"	"0"	"c.1342G>C"	"r.(?)"	"p.(Asp448His)"	""
"0000939467"	"00000025"	"90"	"1342"	"0"	"1342"	"0"	"c.1342G>C"	"r.1342g>c"	"p.Asp448His"	""
"0000939468"	"00000025"	"90"	"1343"	"0"	"1343"	"0"	"c.1343A>T"	"r.(?)"	"p.(Asp448Val)"	""
"0000939469"	"00000025"	"90"	"1226"	"0"	"1226"	"0"	"c.1226A>G"	"r.1226a>g"	"p.Asn409Ser"	""
"0000939470"	"00000025"	"90"	"1226"	"0"	"1226"	"0"	"c.1226A>G"	"r.(?)"	"p.(Asn409Ser)"	""
"0000939471"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000939472"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000939474"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.1448u>c"	"p.Leu483Pro"	""
"0000939475"	"00000025"	"90"	"1304"	"0"	"1304"	"0"	"c.1304A>C"	"r.(?)"	"p.(Asn435Thr)"	""
"0000939476"	"00000025"	"90"	"1246"	"0"	"1246"	"0"	"c.1246G>A"	"r.(?)"	"p.(Gly416Ser)"	""
"0000939477"	"00000025"	"90"	"1246"	"0"	"1246"	"0"	"c.1246G>A"	"r.(?)"	"p.(Gly416Ser)"	""
"0000939478"	"00000025"	"90"	"1226"	"0"	"1226"	"0"	"c.1226A>G"	"r.(?)"	"p.(Asn409Ser)"	""
"0000939479"	"00000025"	"90"	"1309"	"0"	"1309"	"0"	"c.1309G>C"	"r.(?)"	"p.(Val437Leu)"	""
"0000939480"	"00000025"	"90"	"1589"	"0"	"1589"	"0"	"c.1589C>T"	"r.(?)"	"p.(Thr530Ile)"	""
"0000939481"	"00000025"	"90"	"1361"	"0"	"1361"	"0"	"c.1361C>G"	"r.1361c>g"	"p.Pro454Arg"	""
"0000939482"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.1448u>c"	"p.Leu483Pro"	""
"0000939483"	"00000025"	"90"	"1226"	"0"	"1226"	"0"	"c.1226A>G"	"r.1226a>g"	"p.Asn409Ser"	""
"0000939484"	"00000025"	"90"	"1366"	"0"	"1366"	"0"	"c.1366T>G"	"r.1366u>g"	"p.Phe456Val"	""
"0000939485"	"00000025"	"30"	"1601"	"0"	"1601"	"0"	"c.1601G>A"	"r.1601g>a"	"p.Arg534His"	""
"0000939486"	"00000025"	"30"	"84"	"0"	"84"	"0"	"c.84G>T"	"r.84g>u"	"p.Leu28Phe"	""
"0000939487"	"00000025"	"90"	"1370"	"0"	"1370"	"0"	"c.1370A>G"	"r.(?)"	"p.(Tyr457Cys)"	""
"0000939488"	"00000025"	"90"	"1226"	"0"	"1226"	"0"	"c.1226A>G"	"r.(?)"	"p.(Asn409Ser)"	""
"0000939489"	"00000025"	"90"	"1226"	"0"	"1226"	"0"	"c.1226A>G"	"r.(?)"	"p.(Asn409Ser)"	""
"0000939490"	"00000025"	"90"	"84"	"0"	"84"	"0"	"c.84dup"	"r.(?)"	"p.(Leu29Alafs*18)"	""
"0000939491"	"00000025"	"30"	"-1385"	"0"	"-1385"	"0"	"c.-1385G>A"	"r.(=)"	"p.(=)"	"_1"
"0000939492"	"00000025"	"30"	"-1308"	"0"	"-1308"	"0"	"c.-1308T>C"	"r.(=)"	"p.(=)"	"_1"
"0000939493"	"00000025"	"30"	"-1197"	"0"	"-1197"	"0"	"c.-1197T>C"	"r.(=)"	"p.(=)"	"_1"
"0000939494"	"00000025"	"30"	"454"	"47"	"454"	"47"	"c.454+47G>A"	"r.(=)"	"p.(=)"	""
"0000939495"	"00000025"	"30"	"455"	"-206"	"455"	"-206"	"c.455-206A>C"	"r.(=)"	"p.(=)"	"4i"
"0000939496"	"00000025"	"30"	"589"	"-86"	"589"	"-86"	"c.589-86A>G"	"r.(=)"	"p.(=)"	"5i"
"0000939497"	"00000025"	"30"	"762"	"-257"	"762"	"-257"	"c.762-257C>T"	"r.(=)"	"p.(=)"	"6i"
"0000939498"	"00000025"	"30"	"762"	"-180"	"762"	"-180"	"c.762-180A>G"	"r.(=)"	"p.(=)"	""
"0000939499"	"00000025"	"30"	"999"	"309"	"999"	"309"	"c.999+309del"	"r.(=)"	"p.(=)"	"7i"
"0000939500"	"00000025"	"30"	"1000"	"-81"	"1000"	"-81"	"c.1000-81A>C"	"r.(=)"	"p.(=)"	"7i"
"0000939501"	"00000025"	"30"	"1388"	"141"	"1388"	"141"	"c.1388+141A>G"	"r.(=)"	"p.(=)"	"9i"
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"0000939625"	"00000025"	"90"	"599"	"0"	"599"	"0"	"c.599T>G"	"r.(?)"	"p.(Ile200Ser)"	""
"0000939626"	"00000025"	"90"	"1389"	"0"	"1497"	"0"	"c.1389_1497delins[NR_002188.2:n.1271_1379del]"	"r.[(1448u>c;1483g>c;1497g>c)]"	"p.[(Leu483Pro;Ala495Pro)]"	""
"0000939627"	"00000025"	"90"	"911"	"0"	"911"	"0"	"c.911G>A"	"r.(?)"	"p.(Gly304Asp)"	""
"0000939628"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000939629"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000939630"	"00000025"	"90"	"1389"	"0"	"1497"	"0"	"c.1389_1497delins[NR_002188.2:n.1271_1379del]"	"r.[(1448u>c;1483g>c;1497g>c)]"	"p.[(Leu483Pro;Ala495Pro)]"	""
"0000939631"	"00000025"	"90"	"1389"	"0"	"1497"	"0"	"c.1389_1497delins[NR_002188.2:n.1271_1379del]"	"r.[(1448u>c;1483g>c;1497g>c)]"	"p.[(Leu483Pro;Ala495Pro)]"	""
"0000939632"	"00000025"	"90"	"259"	"0"	"259"	"0"	"c.259C>T"	"r.(?)"	"p.(Arg87Trp)"	""
"0000939633"	"00000025"	"90"	"1348"	"0"	"1348"	"0"	"c.1348T>A"	"r.(?)"	"p.(Phe450Ile)"	""
"0000939634"	"00000025"	"90"	"1389"	"0"	"1497"	"0"	"c.1389_1497delins[NR_002188.2:n.1271_1379del]"	"r.[(1448u>c;1483g>c;1497g>c)]"	"p.[(Leu483Pro;Ala495Pro)]"	""
"0000939635"	"00000025"	"90"	"721"	"0"	"721"	"0"	"c.721G>A"	"r.(?)"	"p.(Gly241Arg)"	""
"0000939636"	"00000025"	"90"	"1389"	"0"	"1497"	"0"	"c.1389_1497delins[NR_002188.2:n.1271_1379del]"	"r.[(1448u>c;1483g>c;1497g>c)]"	"p.[(Leu483Pro;Ala495Pro)]"	""
"0000939637"	"00000025"	"90"	"1389"	"0"	"1497"	"0"	"c.1389_1497delins[NR_002188.2:n.1271_1379del]"	"r.[(1448u>c;1483g>c;1497g>c)]"	"p.[(Leu483Pro;Ala495Pro)]"	""
"0000939638"	"00000025"	"90"	"84"	"0"	"84"	"0"	"c.84dup"	"r.(?)"	"p.(Leu29AlafsTer18)"	""
"0000939639"	"00000025"	"10"	"1388"	"141"	"1388"	"141"	"c.1388+141A>G"	"r.(?)"	"p.(=)"	""
"0000939640"	"00000025"	"10"	"1388"	"141"	"1388"	"141"	"c.1388+141A>G"	"r.(?)"	"p.(=)"	""
"0000939641"	"00000025"	"10"	"1388"	"141"	"1388"	"141"	"c.1388+141A>G"	"r.(?)"	"p.(=)"	""
"0000939642"	"00000025"	"10"	"1388"	"141"	"1388"	"141"	"c.1388+141A>G"	"r.(?)"	"p.(=)"	""
"0000939643"	"00000025"	"10"	"1388"	"141"	"1388"	"141"	"c.1388+141A>G"	"r.(?)"	"p.(=)"	""
"0000939644"	"00000025"	"10"	"1388"	"141"	"1388"	"141"	"c.1388+141A>G"	"r.(?)"	"p.(=)"	""
"0000939645"	"00000025"	"10"	"1388"	"141"	"1388"	"141"	"c.1388+141A>G"	"r.(?)"	"p.(=)"	""
"0000939646"	"00000025"	"10"	"1388"	"141"	"1388"	"141"	"c.1388+141A>G"	"r.(?)"	"p.(=)"	""
"0000939647"	"00000025"	"10"	"1388"	"141"	"1388"	"141"	"c.1388+141A>G"	"r.(?)"	"p.(=)"	""
"0000939648"	"00000025"	"10"	"1388"	"141"	"1388"	"141"	"c.1388+141A>G"	"r.(?)"	"p.(=)"	""
"0000939649"	"00000025"	"10"	"1388"	"141"	"1388"	"141"	"c.1388+141A>G"	"r.(?)"	"p.(=)"	""
"0000939650"	"00000025"	"10"	"1388"	"141"	"1388"	"141"	"c.1388+141A>G"	"r.(?)"	"p.(=)"	""
"0000939651"	"00000025"	"10"	"1388"	"141"	"1388"	"141"	"c.1388+141A>G"	"r.(?)"	"p.(=)"	""
"0000939652"	"00000025"	"10"	"1388"	"141"	"1388"	"141"	"c.1388+141A>G"	"r.(?)"	"p.(=)"	""
"0000939653"	"00000025"	"10"	"1388"	"141"	"1388"	"141"	"c.1388+141A>G"	"r.(?)"	"p.(=)"	""
"0000939654"	"00000025"	"10"	"84"	"0"	"84"	"0"	"c.84dup"	"r.(?)"	"p.(Leu29AlafsTer18)"	""
"0000939655"	"00000025"	"10"	"1388"	"141"	"1388"	"141"	"c.1388+141A>G"	"r.(?)"	"p.(=)"	""
"0000939656"	"00000025"	"90"	"1389"	"0"	"1497"	"0"	"c.1389_1497delins[NR_002188.2:n.1271_1379del]"	"r.[(1448u>c;1483g>c;1497g>c)]"	"p.[(Leu483Pro;Ala495Pro)]"	""
"0000939657"	"00000025"	"90"	"1389"	"0"	"1497"	"0"	"c.1389_1497delins[NR_002188.2:n.1271_1379del]"	"r.[(1448u>c;1483g>c;1497g>c)]"	"p.[(Leu483Pro;Ala495Pro)]"	""
"0000939658"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000939659"	"00000025"	"10"	"1388"	"141"	"1388"	"141"	"c.1388+141A>G"	"r.(?)"	"p.(=)"	""
"0000939660"	"00000025"	"90"	"911"	"0"	"911"	"0"	"c.911G>A"	"r.(?)"	"p.(Gly304Asp)"	""
"0000939661"	"00000025"	"10"	"1388"	"141"	"1388"	"141"	"c.1388+141A>G"	"r.(?)"	"p.(=)"	""
"0000939662"	"00000025"	"90"	"1389"	"0"	"1497"	"0"	"c.1389_1497delins[NR_002188.2:n.1271_1379del]"	"r.[(1448u>c;1483g>c;1497g>c)]"	"p.[(Leu483Pro;Ala495Pro)]"	""
"0000939713"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000939714"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000939715"	"00000025"	"90"	"1504"	"0"	"1504"	"0"	"c.1504C>T"	"r.(?)"	"p.(Arg502Cys)"	""
"0000939716"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000939717"	"00000025"	"90"	"1193"	"0"	"1193"	"0"	"c.1193G>A"	"r.(?)"	"p.(Arg398Gln)"	""
"0000939718"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000939719"	"00000025"	"90"	"1181"	"0"	"1181"	"0"	"c.1181G>A"	"r.(?)"	"p.(Gly394Asp)"	""
"0000939720"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000939721"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000939722"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000939723"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000939724"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000939725"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000939726"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000939727"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000939728"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000939729"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000939730"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000939731"	"00000025"	"90"	"1300"	"0"	"1300"	"0"	"c.1300C>T"	"r.(?)"	"p.(Arg434Cys)"	""
"0000939732"	"00000025"	"90"	"1171"	"0"	"1171"	"0"	"c.1171G>A"	"r.(?)"	"p.(Val391Met)"	""
"0000939733"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000939734"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000939735"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000939736"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000939737"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000939738"	"00000025"	"90"	"1184"	"0"	"1184"	"0"	"c.1184C>T"	"r.(?)"	"p.(Ser395Phe)"	""
"0000939739"	"00000025"	"90"	"1093"	"0"	"1093"	"0"	"c.1093G>A"	"r.(?)"	"p.(Glu365Lys)"	""
"0000939740"	"00000025"	"90"	"1093"	"0"	"1093"	"0"	"c.1093G>A"	"r.(?)"	"p.(Glu365Lys)"	""
"0000939741"	"00000025"	"90"	"866"	"0"	"866"	"0"	"c.866G>C"	"r.(?)"	"p.(Gly289Ala)"	""
"0000939742"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000939743"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000939744"	"00000025"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000939745"	"00000025"	"90"	"1397"	"0"	"1397"	"0"	"c.1397T>G"	"r.(?)"	"p.(Ile466Ser)"	""
"0000960544"	"00000025"	"50"	"1255"	"0"	"1255"	"0"	"c.1255G>T"	"r.(?)"	"p.(Asp419Tyr)"	""
"0000960545"	"00000025"	"50"	"247"	"0"	"247"	"0"	"c.247C>T"	"r.(?)"	"p.(Arg83Cys)"	""
"0000973357"	"00000025"	"30"	"1116"	"0"	"1116"	"0"	"c.1116C>T"	"r.(?)"	"p.(=)"	""
"0000973358"	"00000025"	"50"	"686"	"0"	"686"	"0"	"c.686C>T"	"r.(?)"	"p.(Ala229Val)"	""
"0000973359"	"00000025"	"50"	"681"	"0"	"681"	"0"	"c.681T>G"	"r.(?)"	"p.(Asn227Lys)"	""
"0000973360"	"00000025"	"50"	"680"	"0"	"680"	"0"	"c.680A>G"	"r.(?)"	"p.(Asn227Ser)"	""
"0000973361"	"00000025"	"50"	"535"	"0"	"535"	"0"	"c.535G>C"	"r.(?)"	"p.(Asp179His)"	""
"0000990385"	"00000025"	"90"	"1604"	"0"	"1604"	"0"	"c.1604G>A"	"r.(?)"	"p.(Arg535His)"	""
"0000990386"	"00000025"	"90"	"1226"	"0"	"1226"	"0"	"c.1226A>G"	"r.(?)"	"p.(Asn409Ser)"	""
"0000990387"	"00000025"	"50"	"1224"	"0"	"1224"	"0"	"c.1224G>C"	"r.(?)"	"p.(=)"	""
"0001016468"	"00000025"	"70"	"454"	"91"	"762"	"-121"	"c.454+91_762-121del"	"r.(455_761del)"	"p.(Ile153Serfs*15)"	""
"0001031313"	"00000025"	"50"	"1489"	"0"	"1489"	"0"	"c.1489G>A"	"r.(?)"	"p.(Val497Met)"	""
"0001031314"	"00000025"	"50"	"1483"	"0"	"1483"	"0"	"c.1483G>C"	"r.(?)"	"p.(Ala495Pro)"	""
"0001031315"	"00000025"	"30"	"1444"	"0"	"1444"	"0"	"c.1444G>A"	"r.(?)"	"p.(Asp482Asn)"	""
"0001031316"	"00000025"	"50"	"1224"	"0"	"1224"	"0"	"c.1224G>A"	"r.(?)"	"p.(Thr408=)"	""
"0001031317"	"00000025"	"50"	"1209"	"0"	"1209"	"0"	"c.1209C>G"	"r.(?)"	"p.(Ser403Arg)"	""
"0001031318"	"00000025"	"50"	"946"	"0"	"946"	"0"	"c.946C>T"	"r.(?)"	"p.(Arg316Cys)"	""
"0001031319"	"00000025"	"90"	"703"	"0"	"703"	"0"	"c.703T>C"	"r.(?)"	"p.(Ser235Pro)"	""
"0001031320"	"00000025"	"50"	"232"	"0"	"232"	"0"	"c.232C>T"	"r.(?)"	"p.(Arg78Cys)"	""
"0001031321"	"00000025"	"50"	"121"	"0"	"121"	"0"	"c.121C>T"	"r.(?)"	"p.(Arg41Cys)"	""
"0001045594"	"00000025"	"90"	"115"	"1"	"115"	"1"	"c.115+1G>A"	"r.spl?"	"p.?"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 445
"{{screeningid}}"	"{{variantid}}"
"0000000012"	"0000000080"
"0000000023"	"0000000087"
"0000000048"	"0000000088"
"0000000048"	"0000000089"
"0000000058"	"0000000083"
"0000000058"	"0000000084"
"0000000059"	"0000000086"
"0000000060"	"0000000090"
"0000080963"	"0000130049"
"0000220000"	"0000454880"
"0000290696"	"0000647385"
"0000290697"	"0000647386"
"0000290698"	"0000647387"
"0000296607"	"0000653296"
"0000296636"	"0000653325"
"0000336135"	"0000735211"
"0000415987"	"0000873929"
"0000428376"	"0000906101"
"0000428376"	"0000906159"
"0000428377"	"0000906102"
"0000428377"	"0000906160"
"0000428378"	"0000906103"
"0000428378"	"0000906161"
"0000436626"	"0000927678"
"0000436626"	"0000927679"
"0000436626"	"0000927681"
"0000436626"	"0000927696"
"0000436626"	"0000927697"
"0000436627"	"0000927684"
"0000436635"	"0000927695"
"0000436637"	"0000927705"
"0000436638"	"0000927706"
"0000436639"	"0000927707"
"0000436639"	"0000927740"
"0000436639"	"0000927741"
"0000436639"	"0000927743"
"0000436640"	"0000927709"
"0000436657"	"0000927731"
"0000436657"	"0000927732"
"0000436657"	"0000927733"
"0000436657"	"0000927734"
"0000436657"	"0000927735"
"0000436658"	"0000927737"
"0000436658"	"0000927738"
"0000436659"	"0000927744"
"0000436659"	"0000927745"
"0000436660"	"0000927746"
"0000436661"	"0000927748"
"0000436662"	"0000927751"
"0000436662"	"0000927752"
"0000436663"	"0000927753"
"0000436663"	"0000927754"
"0000436664"	"0000927755"
"0000436664"	"0000927756"
"0000436665"	"0000927757"
"0000436665"	"0000927758"
"0000436666"	"0000927759"
"0000436666"	"0000927761"
"0000436668"	"0000927762"
"0000436668"	"0000927763"
"0000436669"	"0000927764"
"0000436669"	"0000927765"
"0000436670"	"0000927766"
"0000436670"	"0000927767"
"0000436671"	"0000927768"
"0000436671"	"0000927769"
"0000436672"	"0000927770"
"0000436672"	"0000927771"
"0000436673"	"0000927772"
"0000436673"	"0000927773"
"0000436674"	"0000927774"
"0000436674"	"0000927775"
"0000436675"	"0000927776"
"0000436675"	"0000927777"
"0000436679"	"0000927782"
"0000436679"	"0000927783"
"0000436680"	"0000927784"
"0000436680"	"0000927785"
"0000436681"	"0000927786"
"0000436681"	"0000927787"
"0000441573"	"0000939323"
"0000441575"	"0000939325"
"0000441575"	"0000939326"
"0000441577"	"0000939328"
"0000441577"	"0000939329"
"0000441578"	"0000939330"
"0000441578"	"0000939331"
"0000441579"	"0000939332"
"0000441579"	"0000939337"
"0000441580"	"0000939333"
"0000441580"	"0000939335"
"0000441581"	"0000939334"
"0000441581"	"0000939336"
"0000441582"	"0000939338"
"0000441582"	"0000939339"
"0000441583"	"0000939340"
"0000441584"	"0000939341"
"0000441585"	"0000939342"
"0000441585"	"0000939349"
"0000441586"	"0000939343"
"0000441586"	"0000939350"
"0000441587"	"0000939344"
"0000441587"	"0000939351"
"0000441588"	"0000939345"
"0000441588"	"0000939352"
"0000441589"	"0000939346"
"0000441589"	"0000939353"
"0000441590"	"0000939347"
"0000441590"	"0000939354"
"0000441591"	"0000939348"
"0000441591"	"0000939355"
"0000441594"	"0000939360"
"0000441594"	"0000939361"
"0000441595"	"0000939362"
"0000441596"	"0000939363"
"0000441596"	"0000939372"
"0000441597"	"0000939364"
"0000441597"	"0000939373"
"0000441598"	"0000939365"
"0000441598"	"0000939374"
"0000441599"	"0000939366"
"0000441599"	"0000939375"
"0000441600"	"0000939367"
"0000441600"	"0000939376"
"0000441601"	"0000939368"
"0000441601"	"0000939377"
"0000441602"	"0000939369"
"0000441602"	"0000939378"
"0000441603"	"0000939370"
"0000441603"	"0000939379"
"0000441604"	"0000939371"
"0000441605"	"0000939380"
"0000441605"	"0000939387"
"0000441606"	"0000939381"
"0000441606"	"0000939388"
"0000441607"	"0000939382"
"0000441608"	"0000939383"
"0000441608"	"0000939389"
"0000441609"	"0000939384"
"0000441610"	"0000939385"
"0000441610"	"0000939390"
"0000441611"	"0000939386"
"0000441611"	"0000939391"
"0000441612"	"0000939392"
"0000441612"	"0000939398"
"0000441613"	"0000939393"
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