### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = BEST1)
# 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}}"
"BEST1"	"bestrophin 1"	"11"	"q12"	"unknown"	"NG_009033.1"	"UD_132085347006"	""	"https://www.LOVD.nl/BEST1"	""	"1"	"12703"	"7439"	"607854"	"1"	"1"	"1"	"1"	"The origin of this database was the VMD2 Mutation Database @ Institute of Human Genetics, University of Regensburg <http://www-huge.uni-regensburg.de/VMD2_database/><br><font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>"	""	"g"	"http://databases.lovd.nl/shared/refseq/BEST1_NM_004183.3_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>"	"-1"	""	"-1"	"00001"	"2010-04-29 00:00:00"	"00006"	"2021-04-30 09:07:41"	"00000"	"2025-05-05 21:14:00"


## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{geneid}}"	"{{name}}"	"{{id_mutalyzer}}"	"{{id_ncbi}}"	"{{id_ensembl}}"	"{{id_protein_ncbi}}"	"{{id_protein_ensembl}}"	"{{id_protein_uniprot}}"	"{{remarks}}"	"{{position_c_mrna_start}}"	"{{position_c_mrna_end}}"	"{{position_c_cds_end}}"	"{{position_g_mrna_start}}"	"{{position_g_mrna_end}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00003366"	"BEST1"	"transcript variant 1"	"001"	"NM_004183.3"	""	"NP_004174.1"	""	""	""	"-580"	"2099"	"1758"	"61717356"	"61731935"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 16
"{{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"	""	""
"00027"	"CILD14"	"dyskinesia, ciliary, primary, type 14 (CILD-14)"	""	"613807"	""	""	""	"00008"	"2012-08-20 12:24:19"	"00006"	"2021-12-10 21:51:32"
"00112"	"RP"	"retinitis pigmentosa (RP)"	""	"268000"	""	""	""	"00001"	"2013-02-21 17:12:36"	"00006"	"2021-01-18 09:53:26"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"00296"	"CTRCT"	"cataract (CTRCT)"	""	""	""	""	""	"00006"	"2014-01-16 08:42:13"	"00006"	"2015-03-07 14:30:33"
"00381"	"RD"	"dystrophy, retinal (RD)"	""	""	""	""	""	"00006"	"2014-05-09 11:59:52"	"00006"	"2015-12-07 07:11:25"
"01424"	"VMD"	"dystrophy, macular, vitelliform (VMD)"	""	""	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2020-07-06 09:48:47"
"01600"	"VRCP;MRCS2"	"vitreoretinochoroidopathy (VRCP, MRCS2 included)"	"AD"	"193220"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-04-30 09:05:14"
"03059"	"VMD2"	"dystrophy, macular, vitelliform, type 2 (VMD-2 (Best macular dystrophy (BMD))"	"AD"	"153700"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-04-30 09:01:13"
"03279"	"RP50"	"retinitis pigmentosa, type 50, concentric (RP50)"	""	"613194"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-04-30 09:02:08"
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"
"04249"	"macular dystrophy"	"dystrophy, macular"	""	""	""	""	""	"00006"	"2015-05-04 22:10:58"	"00006"	"2024-02-15 21:18:39"
"04267"	"-"	"glaucoma"	""	""	""	""	""	"00006"	"2015-05-14 15:50:28"	""	""
"05412"	"maculopathy"	"maculopathy"	""	""	""	""	""	"00006"	"2018-03-23 12:21:26"	""	""
"05611"	"NDD"	"neurodevelopmental disorder (NDD)"	""	""	""	""	""	"00006"	"2019-06-19 12:27:20"	"00006"	"2024-12-13 11:12:21"
"05926"	"ARB"	"Bestrophinopathy, autosomal recessive (ARB)"	"AR"	"611809"	""	""	""	"00006"	"2021-04-30 09:04:26"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 6
"{{geneid}}"	"{{diseaseid}}"
"BEST1"	"00112"
"BEST1"	"01424"
"BEST1"	"01600"
"BEST1"	"03059"
"BEST1"	"03279"
"BEST1"	"05926"


## Individuals ## Do not remove or alter this header ##
## Count = 1875
"{{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}}"
"00000102"	""	""	""	"1"	""	"00004"	"{PMID:Almomani 2011:21102627}"	""	""	""	""	""	""	""	""	""	""
"00000220"	""	""	""	"1"	""	"00041"	"{PMID:Antony 2013:23255504}"	"2-generation family, 1 affected, unaffected parents"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"PCD206"
"00000221"	""	""	""	"1"	""	"00041"	"{PMID:Antony 2013:23255504}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	""	"Afghanistan"	""	"0"	""	""	"Pubjabi"	"PCD210"
"00033162"	""	""	""	"1"	""	"00229"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00033170"	""	""	""	"1"	""	"00229"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00100088"	""	""	""	"1"	""	"01769"	"{PMID:Li 2017:28418496}"	""	"F"	"yes"	"Pakistan"	""	"0"	""	""	"Pakistani"	"PKRD141;61141"
"00155391"	""	""	""	"2"	""	"01243"	"Sharon, submitted"	""	"M"	"yes"	"Israel"	""	"0"	""	""	"Arab-Muslim"	""
"00155392"	""	""	""	"2"	""	"01243"	"Sharon, submitted"	""	"F"	"no"	"Israel"	""	"0"	""	""	"Jewish-Ashkenazi"	""
"00207676"	""	""	""	"1"	""	"01244"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00207682"	""	""	""	"1"	""	"01244"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00233202"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233203"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233204"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233205"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233206"	""	""	""	"32"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233207"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233208"	""	""	""	"12"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233209"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233773"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00263902"	""	""	""	"1"	""	"01807"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00290459"	""	""	""	"2"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00290460"	""	""	""	"13"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00295936"	""	""	""	"1"	""	"01807"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00300619"	""	""	""	"1"	""	"01164"	""	""	"M"	""	"Germany"	""	"0"	""	""	""	""
"00300621"	""	""	""	"1"	""	"01164"	""	""	"F"	""	"Germany"	""	"0"	""	""	""	""
"00305912"	""	""	""	"1"	""	"00006"	"{PMID:Marcogliese 2018:30057031}"	"2-generation family, 1 affected, unaffected parents"	"F"	""	""	""	"0"	""	""	""	"Pat4"
"00305959"	""	""	""	"1"	""	"01807"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00308417"	""	""	""	"1"	""	"00004"	"{PMID:Boulanger-Scemama 2015:26103963}"	""	""	""	"France"	""	"0"	""	""	""	"CIC05272"
"00308481"	""	""	""	"2"	""	"00004"	"{PMID:Holtan 2020:31429209}"	"2 patients with variant in heterozygous or compound heterozygous form"	""	""	"Norway"	""	"0"	""	""	""	""
"00308482"	""	""	""	"1"	""	"00004"	"{PMID:Holtan 2020:31429209}"	"1 patient with variant in heterozygous or compound heterozygous form"	""	""	"Norway"	""	"0"	""	""	""	""
"00308483"	""	""	""	"9"	""	"00004"	"{PMID:Holtan 2020:31429209}"	"9 patients with variant in heterozygous or compound heterozygous form"	""	""	"Norway"	""	"0"	""	""	""	""
"00308484"	""	""	""	"1"	""	"00004"	"{PMID:Holtan 2020:31429209}"	"1 patient with variant in heterozygous or compound heterozygous form"	""	""	"Norway"	""	"0"	""	""	""	""
"00308485"	""	""	""	"4"	""	"00004"	"{PMID:Holtan 2020:31429209}"	"4 patients with variant in heterozygous or compound heterozygous form"	""	""	"Norway"	""	"0"	""	""	""	""
"00308486"	""	""	""	"1"	""	"00004"	"{PMID:Holtan 2020:31429209}"	"1 patient with variant in heterozygous or compound heterozygous form"	""	""	"Norway"	""	"0"	""	""	""	""
"00308487"	""	""	""	"1"	""	"00004"	"{PMID:Holtan 2020:31429209}"	"1 patient with variant in heterozygous or compound heterozygous form"	""	""	"Norway"	""	"0"	""	""	""	""
"00308601"	""	""	""	"1"	""	"00004"	"{PMID:Holtan 2020:31429209}"	"1 homozygous patient"	""	""	"Norway"	""	"0"	""	""	""	""
"00308602"	""	""	""	"1"	""	"00004"	"{PMID:Holtan 2020:31429209}"	"1 homozygous patient"	""	""	"Norway"	""	"0"	""	""	""	""
"00308633"	""	""	""	"2"	""	"00004"	"{PMID:Holtan 2020:31429209}"	"2 homozygous patients"	""	""	"Norway"	""	"0"	""	""	""	""
"00308674"	""	""	""	"1"	""	"00004"	"{PMID:Kim 2019:31144483}"	""	""	""	"Korea"	""	"0"	""	""	""	""
"00308735"	""	""	""	"1"	""	"00004"	"{PMID:Le 2019:31180159}"	"analysis 305 unrelated individuals"	""	""	"Viet Nam"	""	"0"	""	""	""	""
"00308972"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00308973"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00308974"	""	""	""	"2"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"2 IRD families"	""	""	"Israel"	""	"0"	""	""	""	""
"00308975"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00308976"	""	""	""	"3"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"3 IRD families"	""	""	"Israel"	""	"0"	""	""	""	""
"00308977"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00308978"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00308979"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00308980"	""	""	""	"2"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"2 IRD families"	""	""	"Israel"	""	"0"	""	""	""	""
"00308981"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00308982"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00308983"	""	""	""	"5"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"5 IRD families"	""	""	"Israel"	""	"0"	""	""	""	""
"00308984"	""	""	""	"4"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"4 IRD families"	""	""	"Israel"	""	"0"	""	""	""	""
"00308985"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00325452"	""	""	""	"1"	""	"00006"	"{PMID:Zenteno 2020:31736247}"	""	""	""	"Mexico"	""	"0"	""	""	""	"3109"
"00328191"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Europe"	"G007693"
"00328253"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Europe"	"G009002"
"00328427"	""	""	""	"1"	""	"00000"	"{PMID:Zhou 2018:29453956}"	""	""	""	"China"	""	"0"	""	""	""	"690275"
"00328428"	""	""	""	"1"	""	"00000"	"{PMID:Zhou 2018:29453956}"	""	""	""	"China"	""	"0"	""	""	""	"680687"
"00328429"	""	""	""	"1"	""	"00000"	"{PMID:Zhou 2018:29453956}"	""	""	""	"China"	""	"0"	""	""	""	"690910"
"00331963"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:29555955}"	"patient"	"F"	""	"Germany"	""	"0"	""	""	""	"Pat101"
"00331964"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:29555955}"	"family"	"M"	""	"Germany"	""	"0"	""	""	""	"Pat102"
"00331965"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:29555955}"	"patient"	"M"	""	"Germany"	""	"0"	""	""	""	"Pat103"
"00331966"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:29555955}"	"patient"	"M"	""	"Germany"	""	"0"	""	""	""	"Pat104"
"00331967"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:29555955}"	"family"	"M"	""	"Germany"	""	"0"	""	""	""	"Pat105"
"00332014"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:29555955}"	"family"	"M"	""	"Germany"	""	"0"	""	""	""	"Pat152"
"00332015"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:29555955}"	"family"	"M"	""	"Germany"	""	"0"	""	""	""	"Pat153"
"00332016"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:29555955}"	"family"	"F"	""	"Germany"	""	"0"	""	""	""	"Pat154"
"00332017"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:29555955}"	"patient"	"M"	""	"Germany"	""	"0"	""	""	""	"Pat155"
"00332018"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:29555955}"	"patient"	"M"	""	"Germany"	""	"0"	""	""	""	"Pat156"
"00332019"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:29555955}"	"patient"	"F"	""	"Germany"	""	"0"	""	""	""	"Pat157"
"00332020"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:29555955}"	"family"	"M"	""	"Germany"	""	"0"	""	""	""	"Pat158"
"00332021"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:29555955}"	"patient"	"F"	""	"Germany"	""	"0"	""	""	""	"Pat159"
"00332022"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:29555955}"	"patient"	"F"	""	"Germany"	""	"0"	""	""	""	"Pat160"
"00332023"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:29555955}"	"patient"	"M"	""	"Germany"	""	"0"	""	""	""	"Pat161"
"00332024"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:29555955}"	"family"	"M"	""	"Germany"	""	"0"	""	""	""	"Pat162"
"00332025"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:29555955}"	"patient"	"M"	""	"Germany"	""	"0"	""	""	""	"Pat163"
"00332026"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:29555955}"	"patient"	"M"	""	"Germany"	""	"0"	""	""	""	"Pat164"
"00332027"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:29555955}"	"patient"	"M"	""	"Germany"	""	"0"	""	""	""	"Pat165"
"00332504"	""	""	""	"1"	""	"00000"	"{PMID:Avela 2018:29068140}"	""	""	""	"Finland"	""	"0"	""	""	""	"Pat29"
"00333486"	""	""	""	"1"	""	"00006"	"{PMID:Li 2017:28677725}"	""	"F"	""	"China"	""	"0"	""	""	""	"patient"
"00333682"	""	""	""	"2"	""	"00000"	"{PMID:Stone 2017:28559085}"	"family, 2 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"837"
"00333683"	""	""	""	"20"	""	"00000"	"{PMID:Stone 2017:28559085}"	"family, 20 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"838"
"00333684"	""	""	""	"26"	""	"00000"	"{PMID:Stone 2017:28559085}"	"family, 26 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"839"
"00333685"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"841"
"00333686"	""	""	""	"2"	""	"00000"	"{PMID:Stone 2017:28559085}"	"family, 2 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"842"
"00333687"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"843"
"00333688"	""	""	""	"2"	""	"00000"	"{PMID:Stone 2017:28559085}"	"family, 2 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"845"
"00333689"	""	""	""	"4"	""	"00000"	"{PMID:Stone 2017:28559085}"	"family, 4 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"846"
"00333690"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"847"
"00333691"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"848"
"00333692"	""	""	""	"5"	""	"00000"	"{PMID:Stone 2017:28559085}"	"family, 5 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"850"
"00333693"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"851"
"00333694"	""	""	""	"2"	""	"00000"	"{PMID:Stone 2017:28559085}"	"family, 2 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"852"
"00333695"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"853"
"00333696"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"857"
"00333697"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"858"
"00333698"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"859"
"00333699"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"860"
"00334111"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"648"
"00334263"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"840"
"00334264"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"844"
"00334265"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"849"
"00334266"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"854"
"00334267"	""	""	""	"2"	""	"00000"	"{PMID:Stone 2017:28559085}"	"family, 2 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"855"
"00334268"	""	""	""	"2"	""	"00000"	"{PMID:Stone 2017:28559085}"	"family, 2 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"856"
"00334410"	""	""	""	"1"	""	"00000"	"{PMID:Huang 2017:28512305}"	"patient"	""	""	"China"	""	"0"	""	""	""	"RP-128"
"00334570"	""	""	""	"1"	""	"00000"	"{PMID:Vincent 2017:28488341}"	"patient, no family history"	"M"	"no"	"New Zealand"	""	"0"	""	""	"Maori"	"520"
"00335089"	""	""	""	"1"	""	"00000"	"{PMID:Haer-Wigman 2017:28224992}"	"patient"	""	"no"	"Netherlands"	""	"0"	""	""	""	"524"
"00335090"	""	""	""	"1"	""	"00000"	"{PMID:Haer-Wigman 2017:28224992}"	"family"	""	"no"	"Netherlands"	""	"0"	""	""	""	"3339"
"00335232"	""	""	""	"1"	""	"00000"	"{PMID:Riera 2017:28181551}"	"patient"	""	""	"Spain"	""	"0"	""	""	""	"Fi15/30"
"00335427"	""	""	""	"1"	""	"00000"	"{PMID:Huang 2018:29641573}"	""	""	""	""	""	"0"	""	""	""	"RP052"
"00335446"	""	""	""	"4"	""	"00006"	"{PMID:Todorova 2017:28147405}"	"3-generation family, 4 affected"	""	""	"Switzerland"	""	"0"	""	""	""	"Fam1"
"00335447"	""	""	""	"1"	""	"00006"	"{PMID:Todorova 2017:28147405}"	""	"F"	""	"Switzerland"	""	"0"	""	""	""	"Fam2"
"00335474"	""	""	""	"1"	""	"00000"	"{PMID:Bernardis 2016:28127548}"	" "	""	""	"Italy"	""	"0"	""	""	""	"IRD047"
"00335475"	""	""	""	"1"	""	"00000"	"{PMID:Bernardis 2016:28127548}"	"familial case"	""	""	"Italy"	""	"0"	""	""	""	"IRD057"
"00335476"	""	""	""	"1"	""	"00000"	"{PMID:Bernardis 2016:28127548}"	""	""	""	"Italy"	""	"0"	""	""	""	"IRD058"
"00335477"	""	""	""	"1"	""	"00000"	"{PMID:Bernardis 2016:28127548}"	" "	""	""	"Italy"	""	"0"	""	""	""	"IRD064"
"00335749"	""	""	""	"1"	""	"00000"	"{PMID:Zolnikova 2017:27939946}"	""	""	""	"Russia"	""	"0"	""	""	"Russia"	"P006"
"00335750"	""	""	""	"1"	""	"00000"	"{PMID:Zolnikova 2017:27939946}"	""	""	""	"Russia"	""	"0"	""	""	"Russia"	"P007"
"00335835"	""	""	""	"1"	""	"00000"	"{PMID:Ramkumar 2017:28005406}"	""	""	""	"United States"	""	"0"	""	""	""	""
"00335836"	""	""	""	"1"	""	"00000"	"{PMID:Ramkumar 2017:28005406}"	""	""	""	"United States"	""	"0"	""	""	""	""
"00358716"	""	""	""	"1"	""	"00000"	"{PMID:Carrigan 2016:27624628}"	""	""	""	"Ireland"	""	"0"	""	""	""	""
"00358931"	""	""	""	"1"	""	"00000"	"{PMID:Tiwari 2016:27391102}"	""	""	""	"Switzerland"	""	"0"	""	""	""	"Case24718"
"00358969"	""	""	""	"1"	""	"00000"	"{PMID:Tiwari 2016:27353947}"	"see paper"	"F"	""	"Switzerland"	""	"0"	""	""	""	"Case71133"
"00358971"	""	""	""	"1"	""	"00000"	"{PMID:Tiwari 2016:27353947}"	"see paper"	"F"	""	"Switzerland"	""	"0"	""	""	""	"Case70946"
"00358972"	""	""	""	"1"	""	"00000"	"{PMID:Tiwari 2016:27353947}"	"see paper"	"M"	""	"Switzerland"	""	"0"	""	""	""	"Case70559"
"00359206"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"familial segregation analysis requested"	""	""	""	""	"0"	""	""	""	"12008984"
"00359226"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"patient"	""	""	""	""	"0"	""	""	""	"13016023"
"00359237"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"patient"	""	""	""	""	"0"	""	""	""	"13017396"
"00359416"	""	""	""	"1"	""	"00008"	"{PMID:Zhuk 2006:16885924}"	""	"F"	""	""	""	"0"	""	""	"white"	""
"00359418"	""	""	""	"1"	""	"00008"	"{PMID:Zhuk 2006:16885924}"	""	"F"	""	""	""	"0"	""	""	"white"	""
"00359419"	""	""	""	"1"	""	"00008"	"{PMID:Zhuk 2006:16885924}"	""	"F"	""	""	""	"0"	""	""	"african"	""
"00359420"	""	""	""	"1"	""	"00008"	"{PMID:Zhuk 2006:16885924}"	""	"F"	""	""	""	"0"	""	""	"white"	""
"00359421"	""	""	""	"1"	""	"00008"	"{PMID:Zhuk 2006:16885924}"	"Brother with macular degeneration"	"F"	""	""	""	"0"	""	""	"white"	""
"00359422"	""	""	""	"1"	""	"00008"	"{PMID:Zhuk 2006:16885924}"	"Sister and 2 paternal cousins with macular degeneration"	"F"	""	""	""	"0"	""	""	"white"	""
"00359423"	""	""	""	"1"	""	"00008"	"{PMID:Zhuk 2006:16885924}"	""	"F"	""	""	""	"0"	""	""	"white"	""
"00359424"	""	""	""	"1"	""	"00008"	"{PMID:Zhuk 2006:16885924}"	"Sister with macular degeneration"	"F"	""	""	""	"0"	""	""	"white"	""
"00359425"	""	""	""	"1"	""	"00008"	"{PMID:Zhuk 2006:16885924}"	""	"M"	""	""	""	"0"	""	""	"white"	"Pat10"
"00359426"	""	""	""	"1"	""	"00008"	"{PMID:Zhuk 2006:16885924}"	""	"F"	""	""	""	"0"	""	""	"white"	""
"00359427"	""	""	""	"1"	""	"00008"	"{PMID:Zhuk 2006:16885924}"	""	"M"	""	""	""	"0"	""	""	"white"	""
"00362679"	""	""	""	"1"	""	"00008"	"{PMID:Downs 2007:17296903}"	""	""	""	""	""	"0"	""	""	""	""
"00362680"	""	""	""	"1"	""	"00008"	"{PMID:Downs 2007:17296903}"	""	""	""	""	""	"0"	""	""	""	""
"00362681"	""	""	""	"1"	""	"00008"	"{PMID:Downs 2007:17296903}"	""	""	""	""	""	"0"	""	""	""	""
"00362682"	""	""	""	"1"	""	"00008"	"{PMID:Downs 2007:17296903}"	""	""	""	""	""	"0"	""	""	""	""
"00362683"	""	""	""	"1"	""	"00008"	"{PMID:Downs 2007:17296903}"	""	""	""	""	""	"0"	""	""	""	""
"00362893"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2016:26766544}"	"family"	""	""	"Germany"	""	"0"	""	""	""	"CACD7"
"00362895"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2016:26766544}"	"family"	""	""	"Germany"	""	"0"	""	""	""	"MDS47"
"00363359"	""	""	""	"1"	""	"00000"	"{PMID:Sun 2015:26747767}"	"proband"	""	""	"China"	""	"0"	""	""	""	"HM762"
"00363598"	""	""	""	"1"	""	"00000"	"{PMID:Patel 2016:26355662}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"09DG01061"
"00363764"	""	""	""	"1"	""	"00000"	"{PMID:Huang 2015:26310487}"	"family"	"F"	""	"China"	""	"0"	""	""	""	"G617"
"00363765"	""	""	""	"1"	""	"00000"	"{PMID:Huang 2015:26310487}"	"family"	"F"	""	"China"	""	"0"	""	""	""	"G664"
"00363766"	""	""	""	"1"	""	"00000"	"{PMID:Huang 2015:26310487}"	"family"	"M"	""	"China"	""	"0"	""	""	""	"G38"
"00363767"	""	""	""	"1"	""	"00000"	"{PMID:Huang 2015:26310487}"	"family"	"F"	""	"China"	""	"0"	""	""	""	"G587"
"00363768"	""	""	""	"1"	""	"00000"	"{PMID:Huang 2015:26310487}"	"family"	"F"	""	"China"	""	"0"	""	""	""	"G663"
"00363769"	""	""	""	"1"	""	"00000"	"{PMID:Huang 2015:26310487}"	"family"	"M"	""	"China"	""	"0"	""	""	""	"G381"
"00363770"	""	""	""	"1"	""	"00000"	"{PMID:Huang 2015:26310487}"	"family"	"M"	""	"China"	""	"0"	""	""	""	"G402"
"00368955"	""	""	""	"1"	""	"01695"	"{PMID:Wang 2014:25097241}"	""	"F"	"?"	"United States"	""	"0"	""	""	""	"2"
"00372645"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"patient"	"F"	""	"China"	""	"0"	""	""	""	"RP289"
"00372687"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"family"	"M"	""	"China"	""	"0"	""	""	""	"RP288"
"00372705"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	""	""	""	"China"	""	"0"	""	""	""	"RP058"
"00372707"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	""	""	""	"China"	""	"0"	""	""	""	"RP160"
"00373354"	""	""	""	"1"	""	"00000"	"{PMID:Van Huet 2015:25999674}"	""	""	""	"Netherlands"	""	"0"	""	""	""	""
"00373478"	""	""	""	"1"	""	"00000"	"{PMID:Fernandez-San Jose 2015:25698705}"	"family, 1 affected"	""	""	"Spain"	""	"0"	""	""	""	"RP1524"
"00373524"	""	""	""	"1"	""	"00000"	"{PMID:Zaneveld 2015:25474345}"	""	""	""	"Canada"	""	"0"	""	""	""	"Pat69"
"00373870"	""	""	""	"1"	""	"00000"	"{PMID:Consugar 2015:25412400}"	""	""	""	"United States"	""	"0"	""	""	""	"OGI-409-877"
"00373871"	""	""	""	"1"	""	"00000"	"{PMID:Consugar 2015:25412400}"	""	""	""	"United States"	""	"0"	""	""	""	"OGI-396-856"
"00373903"	""	""	""	"1"	""	"00000"	"{PMID:Consugar 2015:25412400}"	""	""	""	"United States"	""	"0"	""	""	""	"OGI-138-376"
"00375327"	""	""	""	"1"	""	"00000"	"{PMID:Oishi 2014:25324289}"	"family"	""	""	"Japan"	""	"0"	""	""	""	"K6266"
"00375424"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2014:25268133}"	"family"	""	""	"Japan"	""	"0"	""	""	""	"RP#018"
"00375481"	""	""	""	"1"	""	"00000"	"{PMID:Alapati 2014:25082885}"	""	""	""	"United States"	""	"0"	""	""	""	"BesPat1"
"00375482"	""	""	""	"1"	""	"00000"	"{PMID:Alapati 2014:25082885}"	""	""	""	"United States"	""	"0"	""	""	""	"BesPat2"
"00375483"	""	""	""	"1"	""	"00000"	"{PMID:Alapati 2014:25082885}"	""	""	""	"United States"	""	"0"	""	""	""	"BesPat3"
"00375484"	""	""	""	"1"	""	"00000"	"{PMID:Alapati 2014:25082885}"	""	""	""	"United States"	""	"0"	""	""	""	"BesPat4"
"00375485"	""	""	""	"1"	""	"00000"	"{PMID:Alapati 2014:25082885}"	""	""	""	"United States"	""	"0"	""	""	""	"BesPat5"
"00375486"	""	""	""	"1"	""	"00000"	"{PMID:Alapati 2014:25082885}"	""	""	""	"United States"	""	"0"	""	""	""	"BesPat6"
"00375487"	""	""	""	"1"	""	"00000"	"{PMID:Alapati 2014:25082885}"	""	""	""	"United States"	""	"0"	""	""	""	"BesPat7"
"00375488"	""	""	""	"1"	""	"00000"	"{PMID:Alapati 2014:25082885}"	""	""	""	"United States"	""	"0"	""	""	""	"BesPat8"
"00375489"	""	""	""	"1"	""	"00000"	"{PMID:Alapati 2014:25082885}"	""	""	""	"United States"	""	"0"	""	""	""	"BesPat9"
"00375490"	""	""	""	"1"	""	"00000"	"{PMID:Alapati 2014:25082885}"	""	""	""	"United States"	""	"0"	""	""	""	"BesPat10"
"00375491"	""	""	""	"1"	""	"00000"	"{PMID:Alapati 2014:25082885}"	""	""	""	"United States"	""	"0"	""	""	""	"BesPat11"
"00375492"	""	""	""	"1"	""	"00000"	"{PMID:Alapati 2014:25082885}"	""	""	""	"United States"	""	"0"	""	""	""	"BesPat12"
"00375493"	""	""	""	"1"	""	"00000"	"{PMID:Alapati 2014:25082885}"	""	""	""	"United States"	""	"0"	""	""	""	"BesPat13"
"00375494"	""	""	""	"1"	""	"00000"	"{PMID:Alapati 2014:25082885}"	""	""	""	"United States"	""	"0"	""	""	""	"BesPat14"
"00375495"	""	""	""	"1"	""	"00000"	"{PMID:Alapati 2014:25082885}"	""	""	""	"United States"	""	"0"	""	""	""	"BesPat15"
"00375496"	""	""	""	"1"	""	"00000"	"{PMID:Alapati 2014:25082885}"	""	""	""	"United States"	""	"0"	""	""	""	"BesPat16"
"00375497"	""	""	""	"1"	""	"00000"	"{PMID:Alapati 2014:25082885}"	""	""	""	"United States"	""	"0"	""	""	""	"BesPat17"
"00375498"	""	""	""	"1"	""	"00000"	"{PMID:Alapati 2014:25082885}"	""	""	""	"United States"	""	"0"	""	""	""	"BesPat18"
"00375499"	""	""	""	"1"	""	"00000"	"{PMID:Alapati 2014:25082885}"	""	""	""	"United States"	""	"0"	""	""	""	"BesPat19"
"00375500"	""	""	""	"1"	""	"00000"	"{PMID:Alapati 2014:25082885}"	""	""	""	"United States"	""	"0"	""	""	""	"BesPat20"
"00375501"	""	""	""	"1"	""	"00000"	"{PMID:Alapati 2014:25082885}"	""	""	""	"United States"	""	"0"	""	""	""	"BesPat21"
"00375502"	""	""	""	"1"	""	"00000"	"{PMID:Alapati 2014:25082885}"	""	""	""	"United States"	""	"0"	""	""	""	"BesPat22"
"00375503"	""	""	""	"1"	""	"00000"	"{PMID:Alapati 2014:25082885}"	""	""	""	"United States"	""	"0"	""	""	""	"BesPat23"
"00375504"	""	""	""	"1"	""	"00000"	"{PMID:Alapati 2014:25082885}"	""	""	""	"United States"	""	"0"	""	""	""	"BesPat24"
"00375505"	""	""	""	"1"	""	"00000"	"{PMID:Alapati 2014:25082885}"	""	""	""	"United States"	""	"0"	""	""	""	"BesPat25, case 3"
"00376754"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"M"	""	"United States"	""	"0"	""	""	""	"14"
"00376768"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"M"	""	"United States"	""	"0"	""	""	""	"30"
"00377232"	""	""	""	"2"	""	"00000"	"Tracewska 2021, MolVis in press"	"proband"	"F"	"no"	"Poland"	""	"0"	"yes"	""	"Slavic"	"340"
"00377233"	""	""	"00377232"	"1"	""	"00000"	"Tracewska 2021, MolVis in press"	"brother"	"M"	"no"	"Poland"	""	"0"	"yes"	""	"Slavic"	"466"
"00377369"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Spain"	""	"0"	""	""	""	"?"
"00377370"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Spain"	""	"0"	""	""	""	"?"
"00377537"	""	""	""	"1"	""	"00000"	"{PMID:Hosono 2018:29844330}"	"proband, family EYE187"	"M"	"no"	"Japan"	""	"0"	""	""	"Asian"	"EYE187"
"00377856"	""	""	""	"1"	""	"00000"	"{PMID:Meunier 2011:21269699}"	""	"M"	"no"	""	""	"0"	""	""	""	""
"00377857"	""	""	""	"1"	""	"00000"	"{PMID:Meunier 2011:21269699}"	""	"M"	"no"	""	""	"0"	""	""	""	""
"00377858"	""	""	""	"1"	""	"00000"	"{PMID:Meunier 2011:21269699}"	""	"M"	"no"	""	""	"0"	""	""	""	""
"00377859"	""	""	""	"1"	""	"00000"	"{PMID:Meunier 2011:21269699}"	""	"F"	"no"	""	""	"0"	""	""	""	""
"00377860"	""	""	""	"1"	""	"00000"	"{PMID:Meunier 2011:21269699}"	""	"M"	"no"	""	""	"0"	""	""	""	""
"00377861"	""	""	""	"1"	""	"00000"	"{PMID:Meunier 2011:21269699}"	""	"M"	"no"	""	""	"0"	""	""	""	""
"00377862"	""	""	""	"1"	""	"00000"	"{PMID:Meunier 2011:21269699}"	""	"F"	"no"	""	""	"0"	""	""	""	""
"00377863"	""	""	""	"1"	""	"00000"	"{PMID:Meunier 2011:21269699}"	""	"F"	"no"	""	""	"0"	""	""	""	""
"00377864"	""	""	""	"1"	""	"00000"	"{PMID:Meunier 2011:21269699}"	""	"M"	"no"	""	""	"0"	""	""	""	""
"00377865"	""	""	""	"1"	""	"00000"	"{PMID:Meunier 2011:21269699}"	""	"F"	"no"	""	""	"0"	""	""	""	""
"00377866"	""	""	""	"1"	""	"00000"	"{PMID:Meunier 2011:21269699}"	""	"F"	"no"	""	""	"0"	""	""	""	""
"00377867"	""	""	""	"1"	""	"00000"	"{PMID:Meunier 2011:21269699}"	""	"F"	"no"	""	""	"0"	""	""	""	""
"00377868"	""	""	""	"1"	""	"00000"	"{PMID:Meunier 2011:21269699}"	""	"M"	"no"	""	""	"0"	""	""	""	""
"00377869"	""	""	""	"1"	""	"00000"	"{PMID:Meunier 2011:21269699}"	""	"M"	"no"	""	""	"0"	""	""	""	""
"00377870"	""	""	""	"1"	""	"00000"	"{PMID:Meunier 2011:21269699}"	""	"M"	"no"	""	""	"0"	""	""	""	""
"00377942"	""	""	""	"1"	""	"00000"	"{PMID:_Audo-2012:22277662}"	""	""	""	""	""	"0"	""	""	""	""
"00379440"	""	""	""	"1"	""	"00000"	"{PMID:Zhou 2011:29453956}"	""	""	""	"China"	""	"0"	""	""	""	""
"00379441"	""	""	""	"1"	""	"00000"	"{PMID:Zhou 2011:29453956}"	""	""	""	"China"	""	"0"	""	""	""	""
"00379442"	""	""	""	"1"	""	"00000"	"{PMID:Zhou 2011:29453956}"	""	""	""	"China"	""	"0"	""	""	""	""
"00379548"	""	""	""	"1"	""	"03508"	""	""	"F"	""	"Korea, South (Republic)"	""	""	""	""	""	"IR_GH_0008"
"00379813"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2018:30029497}"	""	"F"	"?"	"China"	""	"0"	""	""	"Han Chinese"	"2016110801"
"00380096"	""	""	""	"1"	""	"00000"	"{PMID:Kersten 2018:30215852}"	""	"F"	""	""	""	"0"	""	""	""	"?"
"00380153"	""	""	""	"1"	""	"03508"	""	""	"M"	""	"Korea, South (Republic)"	""	""	""	""	""	"IR_GS_0193"
"00382219"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"48"
"00382220"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"49"
"00382221"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"50"
"00382222"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"51"
"00382223"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"52"
"00382224"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"53"
"00382225"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"54"
"00382226"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"55"
"00382227"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"56"
"00382228"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"57"
"00382229"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"58"
"00382230"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"59"
"00382231"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"60"
"00382232"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"61"
"00382233"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"62"
"00382234"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"63"
"00382235"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"64"
"00382236"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"65"
"00382474"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"303"
"00382497"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"359"
"00382498"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"360"
"00382798"	""	""	""	"1"	""	"00000"	"{PMID:Song-2011:22025579}"	""	"M"	""	""	""	"0"	""	""	""	""
"00383410"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2019:31725702}"	""	"M"	""	""	""	"0"	""	""	""	""
"00383411"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2019:31725702}"	""	"F"	""	""	""	"0"	""	""	""	""
"00383520"	""	""	""	"1"	""	"00000"	"{PMID:Kim 2019:31496144}"	""	"?"	""	"Korea, South (Republic)"	""	"0"	""	""	""	"?"
"00384022"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-1714"
"00384272"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31106028}"	""	"M"	""	"China"	""	"0"	""	""	""	"13342"
"00384282"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31106028}"	""	"F"	""	"China"	""	"0"	""	""	""	"13409"
"00384357"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31106028}"	""	"M"	""	"China"	""	"0"	""	""	""	"13923"
"00384434"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31106028}"	""	"M"	""	"China"	""	"0"	""	""	""	"14520"
"00384438"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31106028}"	""	"F"	""	"China"	""	"0"	""	""	""	"14531"
"00384460"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31106028}"	""	"F"	""	"China"	""	"0"	""	""	""	"14666"
"00384480"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31106028}"	""	"M"	""	"China"	""	"0"	""	""	""	"14811"
"00384564"	""	""	""	"1"	""	"00000"	"{PMID:Salehi Chaleshtori 2019:31470097}"	"proband\'s cousin, loop A"	"M"	""	""	""	"0"	""	""	""	"DL1A-III1"
"00384565"	""	""	""	"1"	""	"00000"	"{PMID:Salehi Chaleshtori 2019:31470097}"	"proband\'s cousin, loop A"	"M"	""	""	""	"0"	""	""	""	"DL1A-III2"
"00384566"	""	""	""	"1"	""	"00000"	"{PMID:Salehi Chaleshtori 2019:31470097}"	"proband\'s cousin, loop B"	"F"	""	""	""	"0"	""	""	""	"DL1B-II3"
"00384567"	""	""	""	"1"	""	"00000"	"{PMID:Salehi Chaleshtori 2019:31470097}"	"proband\'s cousin, loop B"	"M"	""	""	""	"0"	""	""	""	"DL1B-II4"
"00384568"	""	""	""	"1"	""	"00000"	"{PMID:Salehi Chaleshtori 2019:31470097}"	"proband, loop C"	"M"	""	""	""	"0"	""	""	""	"DL1C-II2"
"00384569"	""	""	""	"1"	""	"00000"	"{PMID:Salehi Chaleshtori 2019:31470097}"	"proband"	"F"	""	""	""	"0"	""	""	""	"DL2-III1"
"00384570"	""	""	""	"1"	""	"00000"	"{PMID:Salehi Chaleshtori 2019:31470097}"	"proband"	"M"	""	""	""	"0"	""	""	""	"DL3-II1"
"00384571"	""	""	""	"1"	""	"00000"	"{PMID:Salehi Chaleshtori 2019:31470097}"	"proband\'s brother"	"M"	""	""	""	"0"	""	""	""	"DL3-II5"
"00384629"	""	""	""	"1"	""	"00000"	"{PMID:Ehrenberg 2019:31814694}"	""	"M"	"yes"	"Israel"	""	"0"	""	""	""	"Family 7 patient 1"
"00384630"	""	""	""	"1"	""	"00000"	"{PMID:Ehrenberg 2019:31814694}"	""	"M"	"yes"	"Israel"	""	"0"	""	""	""	"Family 7 patient 2"
"00386202"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RPN-322"
"00386206"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RPN-326"
"00386222"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	"family fRPN-178, proband"	"M"	""	"Spain"	""	"0"	""	""	""	"RPN-363"
"00386243"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RPN-466"
"00386264"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	"family fRPN-39, proband"	"M"	""	"Spain"	""	"0"	""	""	""	"RPN-106"
"00386688"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"OGI1047_002074"
"00386925"	""	""	""	"1"	""	"00006"	"{PMID:Mauro-Herrera 2021:34209753}"	""	""	""	"United States"	""	"0"	""	""	""	"Pat1"
"00387388"	""	""	""	"1"	""	"00000"	"{PMID:Sun 2020:32100970}"	""	"F"	""	"China"	""	"0"	""	""	""	"8"
"00387627"	""	""	""	"1"	""	"00000"	"{PMID:Zanolli 2020:32141364}"	"individual ID not present in paper, consecutive numbers given"	"?"	""	"Chile"	""	"0"	""	""	""	"12"
"00387639"	""	""	""	"1"	""	"00000"	"{PMID:Zanolli 2020:32141364}"	"individual ID not present in paper, consecutive numbers given"	"?"	""	"Chile"	""	"0"	""	""	""	"27"
"00387666"	""	""	""	"1"	""	"00000"	"{PMID:Zanolli 2020:32141364}"	"individual ID not present in paper, consecutive numbers given"	"?"	""	"Chile"	""	"0"	""	""	""	"54"
"00387667"	""	""	""	"1"	""	"00000"	"{PMID:Zanolli 2020:32141364}"	"individual ID not present in paper, consecutive numbers given"	"?"	""	"Chile"	""	"0"	""	""	""	"55"
"00387668"	""	""	""	"1"	""	"00000"	"{PMID:Zanolli 2020:32141364}"	"individual ID not present in paper, consecutive numbers given"	"?"	""	"Chile"	""	"0"	""	""	""	"56"
"00388799"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 43, Best vitelliform macular dystrophy, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"83"
"00388800"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 43, Best vitelliform macular dystrophy, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"84"
"00388809"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 45, Best vitelliform macular dystrophy, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"93"
"00388812"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 46, Best vitelliform macular dystrophy, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"96"
"00388813"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 46, Best vitelliform macular dystrophy, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"97"
"00388814"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 46, Best vitelliform macular dystrophy, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"98"
"00388825"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 50, Best vitelliform macular dystrophy, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"109"
"00388857"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 61, Best vitelliform macular dystrophy, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"141"
"00388880"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 66, Best vitelliform macular dystrophy, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"164"
"00388900"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 70, Best vitelliform macular dystrophy, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"184"
"00388906"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 72, Best vitelliform macular dystrophy, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"190"
"00388907"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 72, Best vitelliform macular dystrophy, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"191"
"00388920"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 74, Best vitelliform macular dystrophy, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"204"
"00388945"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 80, Best vitelliform macular dystrophy, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"229"
"00388965"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 85, Best vitelliform macular dystrophy, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"249"
"00388969"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 86, Best vitelliform macular dystrophy, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"253"
"00388976"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 88, Best vitelliform macular dystrophy, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"260"
"00388985"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 91, Best vitelliform macular dystrophy, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"269"
"00388988"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 92, Best vitelliform macular dystrophy, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"272"
"00388998"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 93, Best vitelliform macular dystrophy, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"282"
"00389004"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 95, Best vitelliform macular dystrophy, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"288"
"00389020"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 102, Best vitelliform macular dystrophy, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"304"
"00389021"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 102, Best vitelliform macular dystrophy, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"305"
"00389263"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 194, macular dystrophy, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"547"
"00389468"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 290, macular dystrophy, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"752"
"00389507"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 309, macular dystrophy, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"791"
"00389603"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 370, macular dystrophy, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"887"
"00390175"	""	""	""	"1"	""	"00000"	"{PMID:Turro 2020:32581362}"	"only individuals with mutations in retinal disease genes from this publication were inserted into LOVD"	"?"	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	"G007693"
"00390176"	""	""	""	"1"	""	"00000"	"{PMID:Turro 2020:32581362}"	"only individuals with mutations in retinal disease genes from this publication were inserted into LOVD"	"?"	""	""	""	"0"	""	""	""	"G009002"
"00390765"	""	""	""	"1"	""	"00000"	"{PMID:Booij-2011:20801516}"	""	""	""	""	""	"0"	""	""	""	""
"00390799"	""	""	""	"1"	""	"00000"	"{PMID:Booij-2011:20801516}"	""	""	""	""	""	"0"	""	""	""	""
"00390850"	""	""	""	"1"	""	"00000"	"{PMID:Maggi_2021:33546218}"	""	"M"	""	"Switzerland"	""	"0"	""	""	""	""
"00390855"	""	""	""	"1"	""	"00000"	"{PMID:Maggi_2021:33546218}"	""	"M"	""	"Switzerland"	""	"0"	""	""	""	""
"00390870"	""	""	""	"1"	""	"00000"	"{PMID:Maggi_2021:33546218}"	""	"M"	""	"Switzerland"	""	"0"	""	""	""	""
"00390873"	""	""	""	"1"	""	"00000"	"{PMID:Maggi_2021:33546218}"	""	"F"	""	"Switzerland"	""	"0"	""	""	""	""
"00390876"	""	""	""	"1"	""	"00000"	"{PMID:Maggi_2021:33546218}"	""	"M"	""	"Switzerland"	""	"0"	""	""	""	""
"00390906"	""	""	""	"1"	""	"00000"	"{PMID:Maggi_2021:33546218}"	""	"M"	""	"Switzerland"	""	"0"	""	""	""	""
"00390909"	""	""	""	"1"	""	"00000"	"{PMID:Maggi_2021:33546218}"	""	"F"	""	"Switzerland"	""	"0"	""	""	""	""
"00390930"	""	""	""	"1"	""	"00000"	"{PMID:Maggi_2021:33546218}"	""	"M"	""	"Switzerland"	""	"0"	""	""	""	""
"00390932"	""	""	""	"1"	""	"00000"	"{PMID:Maggi_2021:33546218}"	""	"M"	""	"Switzerland"	""	"0"	""	""	""	""
"00390963"	""	""	""	"1"	""	"00000"	"{PMID:Maggi_2021:33546218}"	""	"F"	""	"Switzerland"	""	"0"	""	""	""	""
"00390992"	""	""	""	"1"	""	"00000"	"{PMID:Maggi_2021:33546218}"	""	"M"	""	"Switzerland"	""	"0"	""	""	""	""
"00391137"	""	""	""	"1"	""	"00000"	"{PMID:Gliem 2020:32646556}"	""	"M"	""	"(Germany)"	""	"0"	""	""	""	"99"
"00391138"	""	""	""	"1"	""	"00000"	"{PMID:Gliem 2020:32646556}"	""	"M"	""	"(Germany)"	""	"0"	""	""	""	"100"
"00391139"	""	""	""	"1"	""	"00000"	"{PMID:Gliem 2020:32646556}"	""	"M"	""	"(Germany)"	""	"0"	""	""	""	"101"
"00391140"	""	""	""	"1"	""	"00000"	"{PMID:Gliem 2020:32646556}"	""	"M"	""	"(Germany)"	""	"0"	""	""	""	"102"
"00391141"	""	""	""	"1"	""	"00000"	"{PMID:Gliem 2020:32646556}"	""	"F"	""	"(Germany)"	""	"0"	""	""	""	"103"
"00391142"	""	""	""	"1"	""	"00000"	"{PMID:Gliem 2020:32646556}"	""	"M"	""	"(Germany)"	""	"0"	""	""	""	"104"
"00391143"	""	""	""	"1"	""	"00000"	"{PMID:Gliem 2020:32646556}"	""	"F"	""	"(Germany)"	""	"0"	""	""	""	"105"
"00391525"	""	""	""	"1"	""	"00000"	"{PMID:Hull 2020:32856788}"	""	"?"	""	"New Zealand"	""	"0"	""	""	"white"	"21"
"00391526"	""	""	""	"1"	""	"00000"	"{PMID:Hull 2020:32856788}"	""	"?"	""	"New Zealand"	""	"0"	""	""	"white"	"22"
"00391527"	""	""	""	"1"	""	"00000"	"{PMID:Hull 2020:32856788}"	""	"?"	""	"New Zealand"	""	"0"	""	""	"white"	"24"
"00391528"	""	""	""	"1"	""	"00000"	"{PMID:Hull 2020:32856788}"	""	"?"	""	"New Zealand"	""	"0"	""	""	"white"	"25"
"00391529"	""	""	""	"1"	""	"00000"	"{PMID:Hull 2020:32856788}"	""	"?"	""	"New Zealand"	""	"0"	""	""	"white"	"26"
"00391530"	""	""	""	"1"	""	"00000"	"{PMID:Hull 2020:32856788}"	""	"?"	""	"New Zealand"	""	"0"	""	""	"white"	"27"
"00392135"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez Munoz 2021:33411470}"	"family ID fRPN-142, proband"	"M"	""	"Spain"	""	"0"	""	""	""	"RPN-301"
"00392160"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez Munoz 2021:33411470}"	"family ID fRPN-142, proband"	"M"	""	"Spain"	""	"0"	""	""	""	"RPN-301"
"00392305"	""	""	""	"1"	""	"00000"	"{PMID:Pappalardo 2021:33512609}"	""	"F"	""	"Australia"	""	"0"	""	""	"Irish"	"I:1"
"00392306"	""	""	""	"1"	""	"00000"	"{PMID:Pappalardo 2021:33512609}"	""	"M"	""	"Australia"	""	"0"	""	""	"Irish"	"II:1"
"00392307"	""	""	""	"1"	""	"00000"	"{PMID:Pappalardo 2021:33512609}"	""	"M"	""	"Australia"	""	"0"	""	""	"Irish"	"II:2"
"00392576"	""	""	""	"1"	""	"00000"	"{PMID:Ma 2021:33691693}"	""	"?"	""	"Korea"	""	"0"	""	""	""	"24"
"00393330"	""	""	""	"1"	""	"00000"	"{PMID:Ng 2021:33846575}"	""	"M"	"?"	"China"	""	"0"	""	""	""	"RP-108"
"00393331"	""	""	""	"1"	""	"00000"	"{PMID:Ng 2021:33846575}"	""	"F"	"?"	"China"	""	"0"	""	""	""	"RP-109"
"00393478"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"M"	""	""	""	"0"	""	""	""	""
"00393570"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"F"	""	""	""	"0"	""	""	""	""
"00393629"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"F"	""	""	""	"0"	""	""	""	""
"00393653"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"M"	""	""	""	"0"	""	""	""	""
"00393815"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"F"	""	""	""	"0"	""	""	""	""
"00393830"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"F"	""	""	""	"0"	""	""	""	""
"00393872"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"F"	""	""	""	"0"	""	""	""	""
"00393900"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"M"	""	""	""	"0"	""	""	""	""
"00395434"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2021:34240658}"	"family F50, individual 51"	"M"	""	"Italy"	""	"0"	""	""	""	"51"
"00395435"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2021:34240658}"	"family F51, individual 52"	"M"	""	"Italy"	""	"0"	""	""	""	"52"
"00395436"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2021:34240658}"	"family F52, individual 53"	"F"	""	"Italy"	""	"0"	""	""	""	"53"
"00395437"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2021:34240658}"	"family F53, individual 54"	"M"	""	"Italy"	""	"0"	""	""	""	"54"
"00395438"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2021:34240658}"	"family F54, individual 55"	"F"	""	"Italy"	""	"0"	""	""	""	"55"
"00395439"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2021:34240658}"	"family F55, individual 56"	"M"	""	"Italy"	""	"0"	""	""	""	"56"
"00395859"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:43360855}"	""	"?"	""	"Taiwan"	""	"0"	""	""	""	"F140"
"00395903"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:43360855}"	""	"?"	""	"Taiwan"	""	"0"	""	""	""	"F069"
"00395936"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:43360855}"	""	"?"	""	"Taiwan"	""	"0"	""	""	""	"F209"
"00395946"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:43360855}"	""	"?"	""	"Taiwan"	""	"0"	""	""	""	"F152"
"00396465"	""	""	""	"1"	""	"00006"	"{PMID:Ellingford 2017:28378820}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"15022236"
"00402491"	""	""	""	"1"	""	"00000"	"{PMID:Petrukhin 1998:9662395}"	"family S1, individual S1-5; apart from the pedigree encompassing 13 individuals, there are 9 more affected tested individuals in this family"	"M"	""	""	""	"0"	""	""	"Swedish"	"S1-5"
"00402492"	""	""	""	"1"	""	"00000"	"{PMID:Petrukhin 1998:9662395}"	"family S1, individual S1-7; apart from the pedigree encompassing 13 individuals, there are 9 more affected tested individuals in this family"	"F"	""	""	""	"0"	""	""	"Swedish"	"S1-7"
"00402493"	""	""	""	"1"	""	"00000"	"{PMID:Petrukhin 1998:9662395}"	"family S1, individual S1-2; apart from the pedigree encompassing 13 individuals, there are 9 more affected tested individuals in this family"	"F"	""	""	""	"0"	""	""	"Swedish"	"S1-2"
"00402494"	""	""	""	"1"	""	"00000"	"{PMID:Petrukhin 1998:9662395}"	"family S1, individual S1-II:1; apart from the pedigree encompassing 13 individuals, there are 9 more affected tested individuals in this family"	"M"	""	""	""	"0"	""	""	"Swedish"	"S1-II:1"
"00402495"	""	""	""	"1"	""	"00000"	"{PMID:Petrukhin 1998:9662395}"	"family S1, individual S1-II:2; apart from the pedigree encompassing 13 individuals, there are 9 more affected tested individuals in this family"	"M"	""	""	""	"0"	""	""	"Swedish"	"S1-II:2"
"00402496"	""	""	""	"1"	""	"00000"	"{PMID:Petrukhin 1998:9662395}"	"family S1, individual S1-III:1; apart from the pedigree encompassing 13 individuals, there are 9 more affected tested individuals in this family"	"M"	""	""	""	"0"	""	""	"Swedish"	"S1-III:1"
"00402497"	""	""	""	"1"	""	"00000"	"{PMID:Petrukhin 1998:9662395}"	"family S1, individual S1-III:3; apart from the pedigree encompassing 13 individuals, there are 9 more affected tested individuals in this family"	"M"	""	""	""	"0"	""	""	"Swedish"	"S1-III:3"
"00402498"	""	""	""	"1"	""	"00000"	"{PMID:Petrukhin 1998:9662395}"	"family S1, individual S1-III:4; apart from the pedigree encompassing 13 individuals, there are 9 more affected tested individuals in this family"	"M"	""	""	""	"0"	""	""	"Swedish"	"S1-III:4"
"00402499"	""	""	""	"1"	""	"00000"	"{PMID:Petrukhin 1998:9662395}"	"family S1, individual S1-III:6; apart from the pedigree encompassing 13 individuals, there are 9 more affected tested individuals in this family"	"M"	""	""	""	"0"	""	""	"Swedish"	"S1-III:6"
"00402500"	""	""	""	"1"	""	"00000"	"{PMID:Petrukhin 1998:9662395}"	"family S1, individual S1-III:7; apart from the pedigree encompassing 13 individuals, there are 9 more affected tested individuals in this family"	"M"	""	""	""	"0"	""	""	"Swedish"	"S1-III:7"
"00402501"	""	""	""	"1"	""	"00000"	"{PMID:Petrukhin 1998:9662395}"	"family S1, individual S1-IV:1; apart from the pedigree encompassing 13 individuals, there are 9 more affected tested individuals in this family"	"F"	""	""	""	"0"	""	""	"Swedish"	"S1-IV:1"
"00402502"	""	""	""	"1"	""	"00000"	"{PMID:Petrukhin 1998:9662395}"	"family S1, individual S1-IV:2; apart from the pedigree encompassing 13 individuals, there are 9 more affected tested individuals in this family"	"M"	""	""	""	"0"	""	""	"Swedish"	"S1-IV:2"
"00402503"	""	""	""	"1"	""	"00000"	"{PMID:Petrukhin 1998:9662395}"	"family S1, individual S1-IV:3; apart from the pedigree encompassing 13 individuals, there are 9 more affected tested individuals in this family"	"F"	""	""	""	"0"	""	""	"Swedish"	"S1-IV:3"
"00402504"	""	""	""	"1"	""	"00000"	"{PMID:Petrukhin 1998:9662395}"	"family SL76, individual SL76-1"	"?"	""	""	""	"0"	""	""	""	"SL76-1"
"00402505"	""	""	""	"1"	""	"00000"	"{PMID:Petrukhin 1998:9662395}"	"family SL76, individual SL76-2"	"?"	""	""	""	"0"	""	""	""	"SL76-2"
"00402506"	""	""	""	"1"	""	"00000"	"{PMID:Petrukhin 1998:9662395}"	"family SL76, individual SL76-3"	"?"	""	""	""	"0"	""	""	""	"SL76-3"
"00402507"	""	""	""	"1"	""	"00000"	"{PMID:Petrukhin 1998:9662395}"	"family SL76, individual SL76-4"	"?"	""	""	""	"0"	""	""	""	"SL76-4"
"00402508"	""	""	""	"1"	""	"00000"	"{PMID:Petrukhin 1998:9662395}"	"family SL76, individual SL76-5"	"?"	""	""	""	"0"	""	""	""	"SL76-5"
"00402509"	""	""	""	"1"	""	"00000"	"{PMID:Petrukhin 1998:9662395}"	"family SL76, individual SL76-6"	"?"	""	""	""	"0"	""	""	""	"SL76-6"
"00402510"	""	""	""	"1"	""	"00000"	"{PMID:Petrukhin 1998:9662395}"	"family SL76, individual SL76-7"	"?"	""	""	""	"0"	""	""	""	"SL76-7"
"00402511"	""	""	""	"1"	""	"00000"	"{PMID:Petrukhin 1998:9662395}"	"family SG1, individual SG1-1"	"?"	""	""	""	"0"	""	""	"Swedish"	"SG1-1"
"00402512"	""	""	""	"1"	""	"00000"	"{PMID:Petrukhin 1998:9662395}"	"family SG1, individual SG1-2"	"?"	""	""	""	"0"	""	""	"Swedish"	"SG1-2"
"00402513"	""	""	""	"1"	""	"00000"	"{PMID:Petrukhin 1998:9662395}"	"family SG1, individual SG1-3"	"?"	""	""	""	"0"	""	""	"Swedish"	"SG1-3"
"00402514"	""	""	""	"1"	""	"00000"	"{PMID:Petrukhin 1998:9662395}"	"family SG1, individual SG1-4"	"?"	""	""	""	"0"	""	""	"Swedish"	"SG1-4"
"00402515"	""	""	""	"1"	""	"00000"	"{PMID:Petrukhin 1998:9662395}"	"family SL2, individual SL2"	"?"	""	""	""	"0"	""	""	"Swedish"	"SL2"
"00402516"	""	""	""	"1"	""	"00000"	"{PMID:Petrukhin 1998:9662395}"	"family SL3, individual SL3-1"	"?"	""	""	""	"0"	""	""	"Dutch"	"SL3-1"
"00402517"	""	""	""	"1"	""	"00000"	"{PMID:Petrukhin 1998:9662395}"	"family SL3, individual SL3-2"	"?"	""	""	""	"0"	""	""	"Dutch"	"SL3-2"
"00402518"	""	""	""	"1"	""	"00000"	"{PMID:Petrukhin 1998:9662395}"	"family Nx3, individual Nx3-1"	"?"	""	""	""	"0"	""	""	"Dutch"	"Nx3-1"
"00402519"	""	""	""	"1"	""	"00000"	"{PMID:Petrukhin 1998:9662395}"	"family Nx1, individual Nx1-1"	"?"	""	""	""	"0"	""	""	"Dutch"	"Nx1-I:2"
"00402520"	""	""	""	"1"	""	"00000"	"{PMID:Petrukhin 1998:9662395}"	"family Nx1, individual Nx1-1"	"?"	""	""	""	"0"	""	""	"Dutch"	"Nx1-I:4"
"00402521"	""	""	""	"1"	""	"00000"	"{PMID:Petrukhin 1998:9662395}"	"family Nx1, individual Nx1-1"	"?"	""	""	""	"0"	""	""	"Dutch"	"Nx1-II:1"
"00402522"	""	""	""	"1"	""	"00000"	"{PMID:Petrukhin 1998:9662395}"	"family SL76, individual SL76-2"	"?"	""	""	""	"0"	""	""	"Dutch"	"Nx6-1"
"00402523"	""	""	""	"1"	""	"00000"	"{PMID:Petrukhin 1998:9662395}"	"family SL76, individual SL76-3"	"?"	""	""	""	"0"	""	""	"Dutch"	"Nx6-2"
"00402524"	""	""	""	"1"	""	"00000"	"{PMID:Petrukhin 1998:9662395}"	"family SL76, individual SL76-4"	"?"	""	""	""	"0"	""	""	"Dutch"	"Nx6-3"
"00402525"	""	""	""	"1"	""	"00000"	"{PMID:Petrukhin 1998:9662395}"	"family SL76, individual SL76-5"	"?"	""	""	""	"0"	""	""	"Dutch"	"Nx8-1"
"00402526"	""	""	""	"1"	""	"00000"	"{PMID:Petrukhin 1998:9662395}"	"family SL76, individual SL76-6"	"?"	""	""	""	"0"	""	""	"Dutch"	"Nx8-2"
"00402527"	""	""	""	"1"	""	"00000"	"{PMID:Petrukhin 1998:9662395}"	"family SL76, individual SL76-7"	"?"	""	""	""	"0"	""	""	"Dutch"	"Nx8-3"
"00402528"	""	""	""	"1"	""	"00000"	"{PMID:Petrukhin 1998:9662395}"	"family SG1, individual SG1-1"	"?"	""	""	""	"0"	""	""	"Dutch"	"Nx8-4"
"00402529"	""	""	""	"1"	""	"00000"	"{PMID:Petrukhin 1998:9662395}"	"family SG1, individual SG1-2"	"?"	""	""	""	"0"	""	""	"Dutch"	"Nx8-5"
"00402530"	""	""	""	"1"	""	"00000"	"{PMID:Petrukhin 1998:9662395}"	"family SG1, individual SG1-3"	"?"	""	""	""	"0"	""	""	"Dutch"	"Nx8-6"
"00402531"	""	""	""	"1"	""	"00000"	"{PMID:Petrukhin 1998:9662395}"	"family SG1, individual SG1-4"	"?"	""	""	""	"0"	""	""	"Dutch"	"Nx8-7"
"00402532"	""	""	""	"1"	""	"00000"	"{PMID:Petrukhin 1998:9662395}"	"family SG1, individual SG1-4"	"?"	""	""	""	"0"	""	""	"Dutch"	"Nx8-8"
"00402535"	""	""	""	"1"	""	"00000"	"{PMID:Marquardt 1998:9700209}"	"Family O"	"?"	""	"Germany"	""	"0"	""	""	""	"O"
"00402536"	""	""	""	"1"	""	"00000"	"{PMID:Marquardt 1998:9700209}"	"Family C"	"?"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"C"
"00402537"	""	""	""	"1"	""	"00000"	"{PMID:Marquardt 1998:9700209}"	"Family G"	"?"	""	"Germany"	""	"0"	""	""	""	"G"
"00402538"	""	""	""	"1"	""	"00000"	"{PMID:Marquardt 1998:9700209}"	"Family S"	"?"	""	"Czech Republic"	""	"0"	""	""	""	"S"
"00402539"	""	""	""	"1"	""	"00000"	"{PMID:Marquardt 1998:9700209}"	"Family R"	"?"	""	"Germany"	""	"0"	""	""	""	"R"
"00402540"	""	""	""	"1"	""	"00000"	"{PMID:Marquardt 1998:9700209}"	"Family D, described elsewhere"	"?"	""	"Canada"	""	"0"	""	""	""	"D"
"00402541"	""	""	""	"1"	""	"00000"	"{PMID:Marquardt 1998:9700209}"	"Family H, described elsewhere"	"?"	""	"Germany"	""	"0"	""	""	""	"H"
"00402542"	""	""	""	"1"	""	"00000"	"{PMID:Marquardt 1998:9700209}"	"Family T"	"?"	""	"Hungary"	""	"0"	""	""	""	"T"
"00402543"	""	""	""	"1"	""	"00000"	"{PMID:Marquardt 1998:9700209}"	"Family W, described elsewhere"	"?"	""	"Germany"	""	"0"	""	""	""	"W"
"00402544"	""	""	""	"1"	""	"00000"	"{PMID:Marquardt 1998:9700209}"	"Family Di, described elsewhere"	"?"	""	"Canada"	""	"0"	""	""	""	"Di"
"00402545"	""	""	""	"1"	""	"00000"	"{PMID:Marquardt 1998:9700209}"	"Family F"	"?"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"F"
"00402546"	""	""	""	"1"	""	"00000"	"{PMID:Marquardt 1998:9700209}"	"Family N, individual I:4"	"F"	""	"Canada"	""	"0"	""	""	""	"N-I:4"
"00402547"	""	""	""	"1"	""	"00000"	"{PMID:Marquardt 1998:9700209}"	"Family N, individual I:3"	"F"	""	"Canada"	""	"0"	""	""	""	"N-I:3"
"00402548"	""	""	""	"1"	""	"00000"	"{PMID:Marquardt 1998:9700209}"	"Family N, individual I:5"	"M"	""	"Canada"	""	"0"	""	""	""	"N-I:5"
"00402549"	""	""	""	"1"	""	"00000"	"{PMID:Marquardt 1998:9700209}"	"Family N, individual I:6"	"M"	""	"Canada"	""	"0"	""	""	""	"N-I:6"
"00402550"	""	""	""	"1"	""	"00000"	"{PMID:Marquardt 1998:9700209}"	"Family N, individual II:8"	"F"	""	"Canada"	""	"0"	""	""	""	"N-II:8"
"00402551"	""	""	""	"1"	""	"00000"	"{PMID:Marquardt 1998:9700209}"	"Family N, individual II:20"	"M"	""	"Canada"	""	"0"	""	""	""	"N-II:20"
"00402552"	""	""	""	"1"	""	"00000"	"{PMID:Marquardt 1998:9700209}"	"Family N, individual II:21"	"M"	""	"Canada"	""	"0"	""	""	""	"N-II:21"
"00402553"	""	""	""	"1"	""	"00000"	"{PMID:Marquardt 1998:9700209}"	"Family N, individual II:22"	"M"	""	"Canada"	""	"0"	""	""	""	"N-II:22"
"00402554"	""	""	""	"1"	""	"00000"	"{PMID:Marquardt 1998:9700209}"	"Family N, individual III:9"	"F"	""	"Canada"	""	"0"	""	""	""	"N-III:9"
"00402555"	""	""	""	"1"	""	"00000"	"{PMID:Marquardt 1998:9700209}"	"Family N, individual III:10"	"F"	""	"Canada"	""	"0"	""	""	""	"N-III:10"
"00402559"	""	""	""	"1"	""	"00000"	"{PMID:Caldwell 1999:10331951}"	"Family A"	"M"	""	""	""	"0"	""	""	""	"A-II:1"
"00402560"	""	""	""	"1"	""	"00000"	"{PMID:Caldwell 1999:10331951}"	"Family B"	"F"	""	""	""	"0"	""	""	""	"B-I:2"
"00402561"	""	""	""	"1"	""	"00000"	"{PMID:Caldwell 1999:10331951}"	"Family B"	"F"	""	""	""	"0"	""	""	""	"B-II:1"
"00402562"	""	""	""	"1"	""	"00000"	"{PMID:Caldwell 1999:10331951}"	"Family C"	"F"	""	""	""	"0"	""	""	""	"C-II:2"
"00402563"	""	""	""	"1"	""	"00000"	"{PMID:Caldwell 1999:10331951}"	"Family C"	"F"	""	""	""	"0"	""	""	""	"C-III:2"
"00402564"	""	""	""	"1"	""	"00000"	"{PMID:Caldwell 1999:10331951}"	"Family C"	"M"	""	""	""	"0"	""	""	""	"C-IV:1"
"00402565"	""	""	""	"1"	""	"00000"	"{PMID:Caldwell 1999:10331951}"	"Family C"	"M"	""	""	""	"0"	""	""	""	"C-IV:2"
"00402566"	""	""	""	"1"	""	"00000"	"{PMID:Caldwell 1999:10331951}"	"Family C"	"F"	""	""	""	"0"	""	""	""	"C-IV:3"
"00402567"	""	""	""	"1"	""	"00000"	"{PMID:Caldwell 1999:10331951}"	"Family D"	"F"	""	""	""	"0"	""	""	""	"D-I:2"
"00402568"	""	""	""	"1"	""	"00000"	"{PMID:Caldwell 1999:10331951}"	"Family D"	"F"	""	""	""	"0"	""	""	""	"D-II:1"
"00402569"	""	""	""	"1"	""	"00000"	"{PMID:Caldwell 1999:10331951}"	"Family E"	"M"	""	""	""	"0"	""	""	""	"E-I:2"
"00402570"	""	""	""	"1"	""	"00000"	"{PMID:Caldwell 1999:10331951}"	"Family E"	"M"	""	""	""	"0"	""	""	""	"E-II:1"
"00402571"	""	""	""	"1"	""	"00000"	"{PMID:Caldwell 1999:10331951}"	"Family F"	"F"	""	""	""	"0"	""	""	""	"F-I:1"
"00402572"	""	""	""	"1"	""	"00000"	"{PMID:Caldwell 1999:10331951}"	"Family F"	"F"	""	""	""	"0"	""	""	""	"F-II:1"
"00402573"	""	""	""	"1"	""	"00000"	"{PMID:Caldwell 1999:10331951}"	"Family G"	"?"	""	""	""	"0"	""	""	""	"G"
"00402574"	""	""	""	"1"	""	"00000"	"{PMID:Caldwell 1999:10331951}"	"Family H"	"F"	""	""	""	"0"	""	""	""	"H-I:2"
"00402575"	""	""	""	"1"	""	"00000"	"{PMID:Caldwell 1999:10331951}"	"Family H"	"F"	""	""	""	"0"	""	""	""	"H-II:1"
"00402576"	""	""	""	"1"	""	"00000"	"{PMID:Caldwell 1999:10331951}"	"Family I"	"?"	""	""	""	"0"	""	""	""	"I"
"00402577"	""	""	""	"1"	""	"00000"	"{PMID:Bakall 1999:10394929}"	"Family Nx3"	"?"	""	""	""	"0"	""	""	"Dutch"	"Nx3"
"00402578"	""	""	""	"1"	""	"00000"	"{PMID:Bakall 1999:10394929}"	"Family Dx2"	"?"	""	""	""	"0"	""	""	"Danish"	"Dx2"
"00402579"	""	""	""	"1"	""	"00000"	"{PMID:Bakall 1999:10394929}"	"Family SL5"	"?"	""	""	""	"0"	""	""	"Swedish"	"SL5"
"00402580"	""	""	""	"1"	""	"00000"	"{PMID:Bakall 1999:10394929}"	"Family Nx10"	"?"	""	""	""	"0"	""	""	"Dutch"	"Nx10"
"00402581"	""	""	""	"1"	""	"00000"	"{PMID:Bakall 1999:10394929}"	"Family SL4"	"?"	""	""	""	"0"	""	""	"Swedish"	"SL4"
"00402582"	""	""	""	"1"	""	"00000"	"{PMID:Bakall 1999:10394929}"	"Family Dx1"	"?"	""	""	""	"0"	""	""	"Danish"	"Dx1"
"00402583"	""	""	""	"1"	""	"00000"	"{PMID:Bakall 1999:10394929}"	"Family SU5"	"?"	""	""	""	"0"	""	""	"Swedish"	"SU5"
"00402584"	""	""	""	"1"	""	"00000"	"{PMID:Bakall 1999:10394929}"	"Family Nx4"	"?"	""	""	""	"0"	""	""	"Dutch"	"Nx4"
"00402592"	""	""	""	"1"	""	"00000"	"{PMID:Allikmets 1999:10453731}"	"no patient numbering in the article"	"M"	""	""	""	"0"	""	""	"Hispanic"	"1"
"00402593"	""	""	""	"1"	""	"00000"	"{PMID:Allikmets 1999:10453731}"	"no patient numbering in the article"	"F"	""	""	""	"0"	""	""	"white"	"2"
"00402594"	""	""	""	"1"	""	"00000"	"{PMID:Allikmets 1999:10453731}"	"no patient numbering in the article"	"F"	""	""	""	"0"	""	""	"white"	"3"
"00402595"	""	""	""	"1"	""	"00000"	"{PMID:Allikmets 1999:10453731}"	"no patient numbering in the article"	"F"	""	""	""	"0"	""	""	"white"	"4"
"00402596"	""	""	""	"1"	""	"00000"	"{PMID:Allikmets 1999:10453731}"	"no patient numbering in the article"	"M"	""	""	""	"0"	""	""	"white"	"5"
"00402597"	""	""	""	"1"	""	"00000"	"{PMID:Allikmets 1999:10453731}"	"no patient numbering in the article"	"F"	""	""	""	"0"	""	""	"white"	"6"
"00402598"	""	""	""	"1"	""	"00000"	"{PMID:Allikmets 1999:10453731}"	"no patient numbering in the article"	"M"	""	""	""	"0"	""	""	"white"	"7"
"00402599"	""	""	""	"1"	""	"00000"	"{PMID:Palomba 2000:10682987}"	"no patient numbering in the article"	"F"	""	""	""	"0"	""	""	""	"1"
"00402601"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402602"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402603"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402604"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402605"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402606"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402607"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402608"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402609"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402610"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402611"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402612"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402613"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402614"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402615"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402616"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402617"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402618"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402619"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402620"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402621"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402622"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402623"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402624"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402625"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402626"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402627"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402628"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402629"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402630"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402631"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402632"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402633"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402634"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402635"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402636"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402637"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402638"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402639"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402640"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402641"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402642"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402643"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402644"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402645"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402646"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402647"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402648"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402649"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402650"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402651"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402652"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402653"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402654"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402655"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402656"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402657"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402658"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402659"	""	""	""	"1"	""	"00000"	"{PMID:Lotery 2000:10798642}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00402660"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2000:10854112}"	""	"?"	""	""	""	"0"	""	""	""	"A-21"
"00402661"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2000:10854112}"	""	"?"	""	""	""	"0"	""	""	""	"B-20"
"00402662"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2000:10854112}"	""	"?"	""	""	""	"0"	""	""	""	"B-48"
"00402663"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2000:10854112}"	""	"?"	""	""	""	"0"	""	""	""	"B-29"
"00402664"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2000:10854112}"	""	"?"	""	""	""	"0"	""	""	""	"B-30"
"00402665"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2000:10854112}"	""	"?"	""	""	""	"0"	""	""	""	"B-47"
"00402666"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2000:10854112}"	""	"?"	""	""	""	"0"	""	""	""	"B-43"
"00402667"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2000:10854112}"	""	"?"	""	""	""	"0"	""	""	""	"A-27"
"00402668"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2000:10854112}"	""	"?"	""	""	""	"0"	""	""	""	"B-28"
"00402669"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2000:10854112}"	""	"?"	""	""	""	"0"	""	""	""	"B-15"
"00402670"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2000:10854112}"	""	"?"	""	""	""	"0"	""	""	""	"B-3"
"00402671"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2000:10854112}"	""	"?"	""	""	""	"0"	""	""	""	"B-51"
"00402672"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2000:10854112}"	""	"?"	""	""	""	"0"	""	""	""	"B-24"
"00402673"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2000:10854112}"	""	"?"	""	""	""	"0"	""	""	""	"B-44"
"00402674"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2000:10854112}"	""	"?"	""	""	""	"0"	""	""	""	"B-32"
"00402675"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2000:10854112}"	""	"?"	""	""	""	"0"	""	""	""	"B-13"
"00402676"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2000:10854112}"	""	"?"	""	""	""	"0"	""	""	""	"B-53"
"00402677"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2000:10854112}"	""	"?"	""	""	""	"0"	""	""	""	"B-22"
"00402678"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2000:10854112}"	""	"?"	""	""	""	"0"	""	""	""	"B-26"
"00402679"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2000:10854112}"	""	"?"	""	""	""	"0"	""	""	""	"B-8"
"00402680"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2000:10854112}"	""	"?"	""	""	""	"0"	""	""	""	"B-52"
"00402681"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2000:10854112}"	""	"?"	""	""	""	"0"	""	""	""	"A-13"
"00402682"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2000:10854112}"	""	"?"	""	""	""	"0"	""	""	""	"A-18"
"00402683"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2000:10854112}"	""	"?"	""	""	""	"0"	""	""	""	"A-36"
"00402684"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2000:10854112}"	""	"?"	""	""	""	"0"	""	""	""	"A-37"
"00402685"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2000:10854112}"	""	"?"	""	""	""	"0"	""	""	""	"B-10"
"00402686"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2000:10854112}"	""	"?"	""	""	""	"0"	""	""	""	"B-12"
"00402687"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2000:10854112}"	""	"?"	""	""	""	"0"	""	""	""	"B-27"
"00402688"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2000:10854112}"	""	"?"	""	""	""	"0"	""	""	""	"B-41"
"00402689"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2000:10854112}"	""	"?"	""	""	""	"0"	""	""	""	"B-19"
"00402690"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2000:10854112}"	""	"?"	""	""	""	"0"	""	""	""	"B-21"
"00402691"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2000:10854112}"	""	"?"	""	""	""	"0"	""	""	""	"B-23"
"00402692"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2000:10854112}"	""	"?"	""	""	""	"0"	""	""	""	"B-35"
"00402693"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2000:10854112}"	""	"?"	""	""	""	"0"	""	""	""	"B-4"
"00402694"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2000:10854112}"	""	"?"	""	""	""	"0"	""	""	""	"B-25"
"00402695"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2000:10854112}"	""	"?"	""	""	""	"0"	""	""	""	"B-18"
"00402696"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2000:10854112}"	""	"?"	""	""	""	"0"	""	""	""	"B-1"
"00402697"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2000:10854112}"	""	"?"	""	""	""	"0"	""	""	""	"B-16"
"00402698"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2000:10854112}"	""	"?"	""	""	""	"0"	""	""	""	"B-6"
"00402699"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2000:10854112}"	""	"?"	""	""	""	"0"	""	""	""	"B-5"
"00402700"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2000:10854112}"	""	"?"	""	""	""	"0"	""	""	""	"B-7"
"00402701"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2000:10854112}"	""	"?"	""	""	""	"0"	""	""	""	"A-3"
"00402702"	""	""	""	"1"	""	"00000"	"{PMID:Marchant 2001:11241846}"	"family Mi, proband\'s mother"	"F"	""	""	""	"0"	""	""	""	"Mi"
"00402703"	""	""	""	"1"	""	"00000"	"{PMID:Marchant 2001:11241846}"	"family Mi, proband"	"M"	""	""	""	"0"	""	""	""	"Mi"
"00402704"	""	""	""	"1"	""	"00000"	"{PMID:Marchant 2001:11241846}"	"family Mi, proband\'s brother 1"	"F"	""	""	""	"0"	""	""	""	"Mi"
"00402705"	""	""	""	"1"	""	"00000"	"{PMID:Marchant 2001:11241846}"	"family Mi, proband\'s brother 2"	"F"	""	""	""	"0"	""	""	""	"Mi"
"00402706"	""	""	""	"1"	""	"00000"	"{PMID:Marchant 2001:11241846}"	""	"?"	""	""	""	"0"	""	""	""	"Em"
"00402707"	""	""	""	"1"	""	"00000"	"{PMID:Marchant 2001:11241846}"	""	"?"	""	""	""	"0"	""	""	""	"Ba"
"00402708"	""	""	""	"1"	""	"00000"	"{PMID:Marchant 2001:11241846}"	""	"?"	""	""	""	"0"	""	""	""	"Ti"
"00402709"	""	""	""	"1"	""	"00000"	"{PMID:Marchant 2001:11241846}"	"family Sc, proband\'s mother"	"F"	""	""	""	"0"	""	""	""	"Sc"
"00402710"	""	""	""	"1"	""	"00000"	"{PMID:Marchant 2001:11241846}"	"family Sc, proband"	"F"	""	""	""	"0"	""	""	""	"Sc"
"00402711"	""	""	""	"1"	""	"00000"	"{PMID:Marchant 2001:11241846}"	"family Ge, proband\'s father"	"M"	""	""	""	"0"	""	""	""	"Ge"
"00402712"	""	""	""	"1"	""	"00000"	"{PMID:Marchant 2001:11241846}"	"family Ge, proband"	"F"	""	""	""	"0"	""	""	""	"Ge"
"00402713"	""	""	""	"1"	""	"00000"	"{PMID:Marchant 2001:11241846}"	""	"?"	""	""	""	"0"	""	""	""	"Tu"
"00402714"	""	""	""	"1"	""	"00000"	"{PMID:Marchant 2001:11241846}"	""	"?"	""	""	""	"0"	""	""	""	"Sch"
"00402715"	""	""	""	"1"	""	"00000"	"{PMID:Marchant 2001:11241846}"	""	"M"	""	""	""	"0"	""	""	""	"Ah"
"00402716"	""	""	""	"1"	""	"00000"	"{PMID:Marchant 2001:11241846}"	"family Ge, proband"	"F"	""	""	""	"0"	""	""	""	"Ah"
"00402717"	""	""	""	"1"	""	"00000"	"{PMID:Eksandh 2001:11449320}"	""	"M"	""	""	""	"0"	""	""	""	"II:1"
"00402718"	""	""	""	"1"	""	"00000"	"{PMID:Eksandh 2001:11449320}"	""	"M"	""	""	""	"0"	""	""	""	"II:2"
"00402719"	""	""	""	"1"	""	"00000"	"{PMID:Eksandh 2001:11449320}"	""	"F"	""	""	""	"0"	""	""	""	"II:3"
"00402720"	""	""	""	"1"	""	"00000"	"{PMID:Eksandh 2001:11449320}"	""	"F"	""	""	""	"0"	""	""	""	"III:1"
"00402721"	""	""	""	"1"	""	"00000"	"{PMID:Eksandh 2001:11449320}"	""	"F"	""	""	""	"0"	""	""	""	"IV:1"
"00402722"	""	""	""	"1"	""	"00000"	"{PMID:Seddon 2001:11713080}"	""	"M"	""	""	""	"0"	""	""	""	"1"
"00402723"	""	""	""	"1"	""	"00000"	"{PMID:Seddon 2001:11713080}"	""	"M"	""	""	""	"0"	""	""	""	"2"
"00402724"	""	""	""	"1"	""	"00000"	"{PMID:Seddon 2001:11713080}"	""	"F"	""	""	""	"0"	""	""	""	"3"
"00402725"	""	""	""	"1"	""	"00000"	"{PMID:Seddon 2001:11713080}"	""	"F"	""	""	""	"0"	""	""	""	"4"
"00402726"	""	""	""	"1"	""	"00000"	"{PMID:Seddon 2001:11713080}"	""	"F"	""	""	""	"0"	""	""	""	"5"
"00402729"	""	""	""	"1"	""	"00000"	"{PMID:Chung 2001:11756879}"	""	"?"	""	""	""	"0"	""	""	""	"1"
"00402730"	""	""	""	"1"	""	"00000"	"{PMID:Chung 2001:11756879}"	""	"?"	""	""	""	"0"	""	""	""	"2"
"00402731"	""	""	""	"1"	""	"00000"	"{PMID:Chung 2001:11756879}"	""	"?"	""	""	""	"0"	""	""	""	"5"
"00402732"	""	""	""	"1"	""	"00000"	"{PMID:Chung 2001:11756879}"	""	"?"	""	""	""	"0"	""	""	""	"6"
"00402733"	""	""	""	"1"	""	"00000"	"{PMID:Chung 2001:11756879}"	""	"?"	""	""	""	"0"	""	""	""	"7"
"00402734"	""	""	""	"1"	""	"00000"	"{PMID:Chung 2001:11756879}"	""	"?"	""	""	""	"0"	""	""	""	"8"
"00402735"	""	""	""	"1"	""	"00000"	"{PMID:Chung 2001:11756879}"	""	"?"	""	""	""	"0"	""	""	""	"9"
"00402736"	""	""	""	"1"	""	"00000"	"{PMID:Chung 2001:11756879}"	""	"?"	""	""	""	"0"	""	""	""	"10"
"00402738"	""	""	""	"1"	""	"00000"	"{PMID:Yanagi 2002:12187431}"	"proband"	"M"	""	""	""	"0"	""	""	""	"1"
"00402739"	""	""	""	"1"	""	"00000"	"{PMID:Yanagi 2002:12187431}"	"mother of proband"	"F"	""	""	""	"0"	""	""	""	"1"
"00402740"	""	""	""	"1"	""	"00000"	"{PMID:Marchant 2002:12324875}"	""	"?"	""	""	""	"0"	""	""	""	"C (individual)"
"00402741"	""	""	""	"1"	""	"00000"	"{PMID:Marchant 2002:12324875}"	""	"?"	""	""	""	"0"	""	""	""	"A (family)"
"00402742"	""	""	""	"1"	""	"00000"	"{PMID:Marchant 2002:12324875}"	""	"?"	""	""	""	"0"	""	""	""	"B (family)"
"00402744"	""	""	""	"1"	""	"00000"	"{PMID:Pianta 2003:12565808}"	"family 1, individual P1"	"M"	""	""	""	"0"	""	""	""	"1_P1"
"00402745"	""	""	""	"1"	""	"00000"	"{PMID:Pianta 2003:12565808}"	"family 1, individual P2"	"M"	""	""	""	"0"	""	""	""	"1_P2"
"00402746"	""	""	""	"1"	""	"00000"	"{PMID:Pianta 2003:12565808}"	"family 2, individual P1"	"M"	""	""	""	"0"	""	""	""	"2_P1"
"00402747"	""	""	""	"1"	""	"00000"	"{PMID:Pianta 2003:12565808}"	"family 2, individual P2"	"M"	""	""	""	"0"	""	""	""	"2_P2"
"00402748"	""	""	""	"1"	""	"00000"	"{PMID:Pianta 2003:12565808}"	"family 2, individual P3"	"M"	""	""	""	"0"	""	""	""	"2_P3"
"00402749"	""	""	""	"1"	""	"00000"	"{PMID:Pianta 2003:12565808}"	"family 3, individual P1"	"M"	""	""	""	"0"	""	""	""	"3_P1"
"00402750"	""	""	""	"1"	""	"00000"	"{PMID:Pianta 2003:12565808}"	"family 3, individual P2"	"M"	""	""	""	"0"	""	""	""	"3_P2"
"00402751"	""	""	""	"1"	""	"00000"	"{PMID:Pianta 2003:12565808}"	"family 3, individual P3"	"M"	""	""	""	"0"	""	""	""	"3_P3"
"00402752"	""	""	""	"1"	""	"00000"	"{PMID:Pianta 2003:12565808}"	"family 4, individual P1"	"F"	""	""	""	"0"	""	""	""	"4_P1"
"00402753"	""	""	""	"1"	""	"00000"	"{PMID:Pianta 2003:12565808}"	"family 4, individual P2"	"M"	""	""	""	"0"	""	""	""	"4_P2"
"00402754"	""	""	""	"1"	""	"00000"	"{PMID:Seddon 2003:13129869}"	"Family 1, patient 1"	"M"	""	""	""	"0"	""	""	""	"patient 1"
"00402755"	""	""	""	"1"	""	"00000"	"{PMID:Seddon 2003:13129869}"	"Family 1, patient 2"	"M"	""	""	""	"0"	""	""	""	"patient 2"
"00402756"	""	""	""	"1"	""	"00000"	"{PMID:Seddon 2003:13129869}"	"Family 1, patient 4"	"M"	""	""	""	"0"	""	""	""	"patient 4"
"00402757"	""	""	""	"1"	""	"00000"	"{PMID:Seddon 2003:13129869}"	"Family 1, patient 5"	"M"	""	""	""	"0"	""	""	""	"patient 5"
"00402758"	""	""	""	"1"	""	"00000"	"{PMID:Seddon 2003:13129869}"	"Family 1, patient 7"	"F"	""	""	""	"0"	""	""	""	"patient 7"
"00402759"	""	""	""	"1"	""	"00000"	"{PMID:Seddon 2003:13129869}"	"Family 1, patient 8"	"F"	""	""	""	"0"	""	""	""	"patient 8"
"00402760"	""	""	""	"1"	""	"00000"	"{PMID:Seddon 2003:13129869}"	"Family 1, patient 9"	"M"	""	""	""	"0"	""	""	""	"patient 9"
"00402761"	""	""	""	"1"	""	"00000"	"{PMID:Seddon 2003:13129869}"	"Family 2, patient 11"	"F"	""	""	""	"0"	""	""	""	"patient 11"
"00402762"	""	""	""	"1"	""	"00000"	"{PMID:Seddon 2003:13129869}"	"Family 2, patient 12"	"F"	""	""	""	"0"	""	""	""	"patient 12"
"00402763"	""	""	""	"1"	""	"00000"	"{PMID:Seddon 2003:13129869}"	"Family 2, patient 13"	"F"	""	""	""	"0"	""	""	""	"patient 13"
"00402764"	""	""	""	"1"	""	"00000"	"{PMID:Seddon 2003:13129869}"	"Family 2, patient 14"	"F"	""	""	""	"0"	""	""	""	"patient 14"
"00402765"	""	""	""	"1"	""	"00000"	"{PMID:Seddon 2003:13129869}"	"Family 2, patient 15"	"F"	""	""	""	"0"	""	""	""	"patient 15"
"00402766"	""	""	""	"1"	""	"00000"	"{PMID:Seddon 2003:13129869}"	"Family 2, patient 16"	"F"	""	""	""	"0"	""	""	""	"patient 16"
"00402767"	""	""	""	"1"	""	"00000"	"{PMID:Seddon 2003:13129869}"	"Family 2, patient 21"	"F"	""	""	""	"0"	""	""	""	"patient 21"
"00402768"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2003:14517959}"	""	"?"	""	""	""	"0"	""	""	""	"991200"
"00402769"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2003:14517959}"	""	"?"	""	""	""	"0"	""	""	""	"10251"
"00402770"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2003:14517959}"	""	"?"	""	""	""	"0"	""	""	""	"41"
"00402771"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2003:14517959}"	""	"?"	""	""	""	"0"	""	""	""	"22431"
"00402772"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2003:14517959}"	""	"?"	""	""	""	"0"	""	""	""	"990723"
"00402773"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2003:14517959}"	""	"?"	""	""	""	"0"	""	""	""	"11102"
"00402774"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2003:14517959}"	""	"?"	""	""	""	"0"	""	""	""	"990489"
"00402775"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2003:14517959}"	""	"?"	""	""	""	"0"	""	""	""	"11456"
"00402776"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2003:14517959}"	""	"?"	""	""	""	"0"	""	""	""	"1843"
"00402777"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2003:14517959}"	""	"?"	""	""	""	"0"	""	""	""	"21384"
"00402778"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2003:14517959}"	""	"?"	""	""	""	"0"	""	""	""	"990335"
"00402779"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2003:14517959}"	""	"?"	""	""	""	"0"	""	""	""	"22492"
"00402780"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2003:14517959}"	""	"?"	""	""	""	"0"	""	""	""	"991228"
"00402781"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2003:14517959}"	""	"?"	""	""	""	"0"	""	""	""	"11259"
"00402782"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2003:14517959}"	""	"?"	""	""	""	"0"	""	""	""	"144"
"00402783"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2003:14517959}"	""	"?"	""	""	""	"0"	""	""	""	"10185"
"00402784"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2003:14517959}"	""	"?"	""	""	""	"0"	""	""	""	"990700"
"00402785"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2003:14517959}"	""	"?"	""	""	""	"0"	""	""	""	"20482"
"00402786"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2003:14517959}"	""	"?"	""	""	""	"0"	""	""	""	"433"
"00402787"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2003:14517959}"	""	"?"	""	""	""	"0"	""	""	""	"990803"
"00402788"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2003:14517959}"	""	"?"	""	""	""	"0"	""	""	""	"990551"
"00402789"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2003:14517959}"	""	"?"	""	""	""	"0"	""	""	""	"20177"
"00402790"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2003:14517959}"	""	"?"	""	""	""	"0"	""	""	""	"989"
"00402791"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2003:14517959}"	""	"?"	""	""	""	"0"	""	""	""	"22367"
"00402792"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2003:14517959}"	""	"?"	""	""	""	"0"	""	""	""	"22292"
"00402793"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2003:14517959}"	""	"?"	""	""	""	"0"	""	""	""	"990273"
"00402794"	""	""	""	"1"	""	"00000"	"{PMID:Kramer 2003:14517959}"	""	"?"	""	""	""	"0"	""	""	""	"31810"
"00402796"	""	""	""	"1"	""	"00000"	"{PMID:Yardley 2004:15452077}"	"multiple affected individuals in the family"	"?"	""	""	""	"0"	""	""	""	"Family 1"
"00402797"	""	""	""	"1"	""	"00000"	"{PMID:Yardley 2004:15452077}"	"multiple affected individuals in the family"	"?"	""	""	""	"0"	""	""	""	"Family 2"
"00402798"	""	""	""	"1"	""	"00000"	"{PMID:Yardley 2004:15452077}"	"multiple affected individuals in the family"	"?"	""	""	""	"0"	""	""	""	"Family 3"
"00402799"	""	""	""	"1"	""	"00000"	"{PMID:Yardley 2004:15452077}"	"multiple affected individuals in the family"	"?"	""	""	""	"0"	""	""	""	"Family 4"
"00402800"	""	""	""	"1"	""	"00000"	"{PMID:Yardley 2004:15452077}"	"multiple affected individuals in the family"	"?"	""	""	""	"0"	""	""	""	"Family 5"
"00402801"	""	""	""	"1"	""	"00000"	"{PMID:Pollack 2005:15657694}"	"mother"	"F"	""	""	""	"0"	""	""	""	"III-2"
"00402802"	""	""	""	"1"	""	"00000"	"{PMID:Pollack 2005:15657694}"	"daughter"	"F"	""	""	""	"0"	""	""	""	"IV-3"
"00402803"	""	""	""	"1"	""	"00000"	"{PMID:Pollack 2005:15657694}"	"son 1"	"M"	""	""	""	"0"	""	""	""	"IV-4"
"00402804"	""	""	""	"1"	""	"00000"	"{PMID:Pollack 2005:15657694}"	"son 2"	"M"	""	""	""	"0"	""	""	""	"IV-5"
"00402823"	""	""	""	"1"	""	"00000"	"{PMID:Renner 2005:15808248}"	""	"F"	""	""	""	"0"	""	""	""	"1659  (G01-1378)"
"00402824"	""	""	""	"1"	""	"00000"	"{PMID:Renner 2005:15808248}"	"family B - father"	"M"	""	""	""	"0"	""	""	""	"1150 (A-5)"
"00402825"	""	""	""	"1"	""	"00000"	"{PMID:Renner 2005:15808248}"	"family B - daughter"	"F"	""	""	""	"0"	""	""	""	"1149 (A-4)"
"00402826"	""	""	""	"1"	""	"00000"	"{PMID:Renner 2005:15808248}"	"family W - sister"	"F"	""	""	""	"0"	""	""	""	"806"
"00402827"	""	""	""	"1"	""	"00000"	"{PMID:Renner 2005:15808248}"	"family F - brother"	"M"	""	""	""	"0"	""	""	""	"1066 (B-16)"
"00402828"	""	""	""	"1"	""	"00000"	"{PMID:Renner 2005:15808248}"	"family F - sister"	"F"	""	""	""	"0"	""	""	""	"1065 (B-17)"
"00402829"	""	""	""	"1"	""	"00000"	"{PMID:Renner 2005:15808248}"	"family W - sister\'s child"	"F"	""	""	""	"0"	""	""	""	"808 (B-1)"
"00402830"	""	""	""	"1"	""	"00000"	"{PMID:Renner 2005:15808248}"	"family W - brother"	"M"	""	""	""	"0"	""	""	""	"780"
"00402831"	""	""	""	"1"	""	"00000"	"{PMID:Renner 2005:15808248}"	""	"M"	""	""	""	"0"	""	""	""	"1908  (G03-1810)"
"00402832"	""	""	""	"1"	""	"00000"	"{PMID:Renner 2005:15808248}"	""	"M"	""	""	""	"0"	""	""	""	"1346  (G99-0273)"
"00402833"	""	""	""	"1"	""	"00000"	"{PMID:Renner 2005:15808248}"	""	"F"	""	""	""	"0"	""	""	""	"1164 (B-28)"
"00402834"	""	""	""	"1"	""	"00000"	"{PMID:Renner 2005:15808248}"	""	"M"	""	""	""	"0"	""	""	""	"1080 (B-13)"
"00402835"	""	""	""	"1"	""	"00000"	"{PMID:Renner 2005:15808248}"	""	"M"	""	""	""	"0"	""	""	""	"1911  (G03-2001)"
"00402836"	""	""	""	"1"	""	"00000"	"{PMID:Renner 2005:15808248}"	""	"M"	""	""	""	"0"	""	""	""	"916 (B-15)"
"00402837"	""	""	""	"1"	""	"00000"	"{PMID:Renner 2005:15808248}"	""	"M"	""	""	""	"0"	""	""	""	"823 (PAT14)"
"00402838"	""	""	""	"1"	""	"00000"	"{PMID:Renner 2005:15808248}"	""	"M"	""	""	""	"0"	""	""	""	"1640  (G01-1102)"
"00402845"	""	""	""	"1"	""	"00000"	"{PMID:Mullins 2005:16286623}"	"III:8 in the original report, Braley A et al. Arch Ophthalmol. 1964;72:743-762."	"M"	""	""	"93y"	"0"	""	""	""	"?"
"00402850"	""	""	""	"1"	""	"00000"	"{PMID:Wabbels 2006:16612637}"	"Fam K, index patient"	"M"	""	"Germany"	""	"0"	""	""	""	"KII:1"
"00402851"	""	""	""	"1"	""	"00000"	"{PMID:Wabbels 2006:16612637}"	"Fam K"	"M"	""	"Germany"	""	"0"	""	""	""	"KI:1"
"00402852"	""	""	""	"1"	""	"00000"	"{PMID:Wabbels 2006:16612637}"	"Fam W, index patient"	"M"	""	"Germany"	""	"0"	""	""	""	"WII:2"
"00402853"	""	""	""	"1"	""	"00000"	"{PMID:Wabbels 2006:16612637}"	"Fam W"	"M"	""	"Germany"	""	"0"	""	""	""	"WII:1"
"00402854"	""	""	""	"1"	""	"00000"	"{PMID:Wabbels 2006:16612637}"	"Fam W"	"F"	""	"Germany"	""	"0"	""	""	""	"WI:2"
"00402855"	""	""	""	"1"	""	"00000"	"{PMID:Wabbels 2006:16612637}"	"Fam Wa, index patient"	"M"	""	"Germany"	""	"0"	""	""	""	"WaII:1"
"00402856"	""	""	""	"1"	""	"00000"	"{PMID:Wabbels 2006:16612637}"	"Fam Wa"	"M"	""	"Germany"	""	"0"	""	""	""	"WaI:1"
"00402857"	""	""	""	"1"	""	"00000"	"{PMID:Wabbels 2006:16612637}"	"Fam Bi, index patient"	"M"	""	"Germany"	""	"0"	""	""	""	"BiII:2"
"00402858"	""	""	""	"1"	""	"00000"	"{PMID:Wabbels 2006:16612637}"	"Fam Bi"	"M"	""	"Germany"	""	"0"	""	""	""	"BiI:1"
"00402859"	""	""	""	"1"	""	"00000"	"{PMID:Wabbels 2006:16612637}"	"FamU, index patient"	"M"	""	"Germany"	""	"0"	""	""	""	"UII:3"
"00402860"	""	""	""	"1"	""	"00000"	"{PMID:Wabbels 2006:16612637}"	"FamU"	"F"	""	"Germany"	""	"0"	""	""	""	"UII:1"
"00402861"	""	""	""	"1"	""	"00000"	"{PMID:Wabbels 2006:16612637}"	"FamU"	"M"	""	"Germany"	""	"0"	""	""	""	"UI:2"
"00402862"	""	""	""	"1"	""	"00000"	"{PMID:Wabbels 2006:16612637}"	"isolated patient"	"M"	""	"Germany"	""	"0"	""	""	""	"ZII:1"
"00402863"	""	""	""	"1"	""	"00000"	"{PMID:Wabbels 2006:16612637}"	"isolated patient"	"M"	""	"Germany"	""	"0"	""	""	""	"RI:1"
"00402864"	""	""	""	"1"	""	"00000"	"{PMID:Wabbels 2006:16612637}"	"Fam Be, index patient"	"M"	""	"Germany"	""	"0"	""	""	""	"BeI:1"
"00402865"	""	""	""	"1"	""	"00000"	"{PMID:Wabbels 2006:16612637}"	"Fam Be"	"M"	""	"Germany"	""	"0"	""	""	""	"BeII:1"
"00402866"	""	""	""	"1"	""	"00000"	"{PMID:Wabbels 2006:16612637}"	"Fam B, index patient"	"F"	""	"Germany"	""	"0"	""	""	""	"BI:2"
"00402867"	""	""	""	"1"	""	"00000"	"{PMID:Wabbels 2006:16612637}"	"Fam B"	"F"	""	"Germany"	""	"0"	""	""	""	"BII:1"
"00402868"	""	""	""	"1"	""	"00000"	"{PMID:Wabbels 2006:16612637}"	"Fam B"	"M"	""	"Germany"	""	"0"	""	""	""	"BII:2"
"00402869"	""	""	""	"1"	""	"00000"	"{PMID:Wabbels 2006:16612637}"	"isolated patient"	"F"	""	"Germany"	""	"0"	""	""	""	"MII:4"
"00402870"	""	""	""	"1"	""	"00000"	"{PMID:Schatz 2006:16754206}"	"proband\'s father"	"M"	""	"Sweden"	""	"0"	""	""	""	"I:1"
"00402871"	""	""	""	"1"	""	"00000"	"{PMID:Schatz 2006:16754206}"	"proband\'s mother"	"F"	""	"Sweden"	""	"0"	""	""	""	"I:2"
"00402872"	""	""	""	"1"	""	"00000"	"{PMID:Schatz 2006:16754206}"	"proband\'s sister"	"F"	""	"Sweden"	""	"0"	""	""	""	"II:1"
"00402873"	""	""	""	"1"	""	"00000"	"{PMID:Schatz 2006:16754206}"	"proband (not in article)"	"F"	""	"Sweden"	""	"0"	""	""	""	"II:2"
"00402874"	""	""	""	"1"	""	"00000"	"{PMID:Schatz 2006:16754206}"	"proband\'s daughter"	"F"	""	"Sweden"	""	"0"	""	""	""	"III:1"
"00402875"	""	""	""	"1"	""	"00000"	"{PMID:Schatz 2006:16754206}"	"proband\'s son"	"M"	""	"Sweden"	""	"0"	""	""	""	"III:2"
"00402924"	""	""	""	"1"	""	"00000"	"{PMID:Apushkin 2006:16769844}"	""	"M"	""	"United States"	""	"0"	""	""	"English, German, and Polish ancestry"	"?"
"00402926"	""	""	""	"1"	""	"00000"	"{PMID:Li 2006:16865191}"	"proband"	"M"	""	"China"	""	"0"	""	""	""	"III:1"
"00402927"	""	""	""	"1"	""	"00000"	"{PMID:Li 2006:16865191}"	"proband\'s sister"	"F"	""	"China"	""	"0"	""	""	""	"III:2"
"00402956"	""	""	""	"1"	""	"00000"	"{PMID:Marchant 2007:17287362}"	"family D"	""	""	"France"	""	"0"	""	""	""	"D"
"00402957"	""	""	""	"1"	""	"00000"	"{PMID:Marchant 2007:17287362}"	"family F"	""	""	"France"	""	"0"	""	""	""	"F"
"00402958"	""	""	""	"1"	""	"00000"	"{PMID:Marchant 2007:17287362}"	"family c"	""	""	"France"	""	"0"	""	""	""	"c"
"00402959"	""	""	""	"1"	""	"00000"	"{PMID:Marchant 2007:17287362}"	"family A"	""	""	"Switzerland"	""	"0"	""	""	""	"A"
"00402960"	""	""	""	"1"	""	"00000"	"{PMID:Marchant 2007:17287362}"	"family I"	""	""	"France"	""	"0"	""	""	""	"I"
"00402961"	""	""	""	"1"	""	"00000"	"{PMID:Marchant 2007:17287362}"	"family a"	""	""	"France"	""	"0"	""	""	""	"a"
"00402962"	""	""	""	"1"	""	"00000"	"{PMID:Marchant 2007:17287362}"	"family b"	""	""	"France"	""	"0"	""	""	""	"b"
"00402963"	""	""	""	"1"	""	"00000"	"{PMID:Marchant 2007:17287362}"	"family f"	""	""	"France"	""	"0"	""	""	""	"f"
"00402964"	""	""	""	"1"	""	"00000"	"{PMID:Marchant 2007:17287362}"	"family H"	""	""	"France"	""	"0"	""	""	""	"H"
"00402965"	""	""	""	"1"	""	"00000"	"{PMID:Marchant 2007:17287362}"	"family D"	""	""	"France"	""	"0"	""	""	""	"D"
"00402966"	""	""	""	"1"	""	"00000"	"{PMID:Marchant 2007:17287362}"	"family E"	""	""	"France"	""	"0"	""	""	""	"E"
"00402967"	""	""	""	"1"	""	"00000"	"{PMID:Marchant 2007:17287362}"	"family C, proband\'s  uncle 1"	"M"	""	"France"	""	"0"	""	""	""	"C-II:1"
"00402968"	""	""	""	"1"	""	"00000"	"{PMID:Marchant 2007:17287362}"	"family C, proband\'s  uncle 2"	"M"	""	"France"	""	"0"	""	""	""	"C-II:6"
"00402969"	""	""	""	"1"	""	"00000"	"{PMID:Marchant 2007:17287362}"	"family C, proband\'s paternal cousin 1 (son of uncle 1)"	"M"	""	"France"	""	"0"	""	""	""	"C-III:2"
"00402970"	""	""	""	"1"	""	"00000"	"{PMID:Marchant 2007:17287362}"	"family C, proband\'s brother"	"M"	""	"France"	""	"0"	""	""	""	"C-III:4"
"00402971"	""	""	""	"1"	""	"00000"	"{PMID:Marchant 2007:17287362}"	"family C, proband"	"M"	""	"France"	""	"0"	""	""	""	"C-III:6"
"00402972"	""	""	""	"1"	""	"00000"	"{PMID:Marchant 2007:17287362}"	"family C, proband\'s paternal cousin 2 (son of uncle 2)"	"M"	""	"France"	""	"0"	""	""	""	"C-III:10"
"00402973"	""	""	""	"1"	""	"00000"	"{PMID:Marchant 2007:17287362}"	"family C, proband\'s brother\'s son"	"M"	""	"France"	""	"0"	""	""	""	"C-IV:2"
"00402974"	""	""	""	"1"	""	"00000"	"{PMID:Marchant 2007:17287362}"	"family C, proband\'s son"	"M"	""	"France"	""	"0"	""	""	""	"C-IV:5"
"00402975"	""	""	""	"1"	""	"00000"	"{PMID:Marchant 2007:17287362}"	"family B"	""	""	"France"	""	"0"	""	""	""	"B"
"00402976"	""	""	""	"1"	""	"00000"	"{PMID:Marchant 2007:17287362}"	"family J"	""	""	"Switzerland"	""	"0"	""	""	""	"J"
"00402977"	""	""	""	"1"	""	"00000"	"{PMID:Marchant 2007:17287362}"	"family E"	""	""	"France"	""	"0"	""	""	""	"E"
"00402978"	""	""	""	"1"	""	"00000"	"{PMID:Marchant 2007:17287362}"	"family G"	""	""	"France"	""	"0"	""	""	""	"G"
"00402979"	""	""	""	"1"	""	"00000"	"{PMID:Bakall 2007:17477921}"	""	"M"	""	""	"81y"	"0"	""	""	"Swedish"	"II:2"
"00402980"	""	""	""	"1"	""	"00000"	"{PMID:Bakall 2007:17477921}"	""	"M"	""	""	""	"0"	""	""	"Swedish"	"III:1"
"00402981"	""	""	""	"1"	""	"00000"	"{PMID:Bakall 2007:17477921}"	""	"F"	""	""	""	"0"	""	""	"Swedish"	"III:2"
"00402982"	""	""	""	"1"	""	"00000"	"{PMID:Bakall 2007:17477921}"	""	"F"	""	""	""	"0"	""	""	"Swedish"	"III:3"
"00402983"	""	""	""	"1"	""	"00000"	"{PMID:Bakall 2007:17477921}"	""	"M"	""	""	""	"0"	""	""	"Swedish"	"III:4"
"00402984"	""	""	""	"1"	""	"00000"	"{PMID:Bakall 2007:17477921}"	""	"F"	""	""	""	"0"	""	""	"Swedish"	"III:5"
"00402985"	""	""	""	"1"	""	"00000"	"{PMID:Bakall 2007:17477921}"	""	"F"	""	""	""	"0"	""	""	"Swedish"	"III:6"
"00402986"	""	""	""	"1"	""	"00000"	"{PMID:Bakall 2007:17477921}"	""	"F"	""	""	""	"0"	""	""	"Swedish"	"III:7"
"00402987"	""	""	""	"1"	""	"00000"	"{PMID:Bakall 2007:17477921}"	""	"F"	""	""	""	"0"	""	""	"Swedish"	"III:8"
"00402988"	""	""	""	"1"	""	"00000"	"{PMID:Bakall 2007:17477921}"	""	"M"	""	""	""	"0"	""	""	"Swedish"	"III:9"
"00402989"	""	""	""	"1"	""	"00000"	"{PMID:Bakall 2007:17477921}"	""	"M"	""	""	""	"0"	""	""	"Swedish"	"III:10"
"00403000"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2007:17646752}"	""	"F"	""	"Italy"	""	"0"	""	""	""	"GM (V373)"
"00403001"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2007:17646752}"	""	"M"	""	"Italy"	""	"0"	""	""	""	"MM (V374)"
"00403002"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2007:17646752}"	""	"M"	""	"Italy"	""	"0"	""	""	""	"AM (V375)"
"00403003"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2007:17646752}"	""	"M"	""	"Italy"	""	"0"	""	""	""	"IG (V217)"
"00403004"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2007:17646752}"	""	"M"	""	"Italy"	""	"0"	""	""	""	"StG (V280)"
"00403005"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2007:17646752}"	""	"F"	""	"Italy"	""	"0"	""	""	""	"SaG (V219)"
"00403006"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2007:17646752}"	""	"M"	""	"Italy"	""	"0"	""	""	""	"MS (V310)"
"00403007"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2007:17646752}"	""	"F"	""	"Italy"	""	"0"	""	""	""	"DP (V4)"
"00403008"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2007:17646752}"	""	"M"	""	"Italy"	""	"0"	""	""	""	"ALB (V53)"
"00403009"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2007:17646752}"	""	"M"	""	"Italy"	""	"0"	""	""	""	"MF (V183)"
"00403010"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2007:17646752}"	""	"F"	""	"Italy"	""	"0"	""	""	""	"CF (V186)"
"00403011"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2007:17646752}"	""	"M"	""	"Italy"	""	"0"	""	""	""	"VF (V187)"
"00403014"	""	""	""	"1"	""	"00000"	"{PMID:Boon 2007:17698758}"	""	"F"	""	"Netherlands"	""	"0"	""	""	""	"1"
"00403015"	""	""	""	"1"	""	"00000"	"{PMID:Boon 2007:17698758}"	""	"F"	""	"Netherlands"	""	"0"	""	""	""	"2"
"00403016"	""	""	""	"1"	""	"00000"	"{PMID:Boon 2007:17698758}"	""	"M"	""	"Netherlands"	""	"0"	""	""	""	"3"
"00403017"	""	""	""	"1"	""	"00000"	"{PMID:Boon 2007:17698758}"	""	"F"	""	"Netherlands"	""	"0"	""	""	""	"4"
"00403018"	""	""	""	"1"	""	"00000"	"{PMID:Boon 2007:17698758}"	""	"F"	""	"Netherlands"	""	"0"	""	""	""	"5"
"00403019"	""	""	""	"1"	""	"00000"	"{PMID:Boon 2007:17698758}"	""	"F"	""	"Netherlands"	""	"0"	""	""	""	"6"
"00403020"	""	""	""	"1"	""	"00000"	"{PMID:Boon 2007:17698758}"	""	"F"	""	"Netherlands"	""	"0"	""	""	""	"7"
"00403021"	""	""	""	"1"	""	"00000"	"{PMID:Boon 2007:17698758}"	""	"M"	""	"Netherlands"	""	"0"	""	""	""	"8"
"00403022"	""	""	""	"1"	""	"00000"	"{PMID:Boon 2007:17698758}"	""	"M"	""	"Netherlands"	""	"0"	""	""	""	"9"
"00403032"	""	""	""	"1"	""	"00000"	"{PMID:Burgess 2008:18179881}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"1"
"00403033"	""	""	""	"1"	""	"00000"	"{PMID:Burgess 2008:18179881}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"1"
"00403034"	""	""	""	"1"	""	"00000"	"{PMID:Burgess 2008:18179881}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"2"
"00403035"	""	""	""	"1"	""	"00000"	"{PMID:Burgess 2008:18179881}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"3"
"00403036"	""	""	""	"1"	""	"00000"	"{PMID:Burgess 2008:18179881}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"4"
"00403037"	""	""	""	"1"	""	"00000"	"{PMID:Burgess 2008:18179881}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"5"
"00403038"	""	""	""	"1"	""	"00000"	"{PMID:Burgess 2008:18179881}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"5"
"00403040"	""	""	""	"1"	""	"00000"	"{PMID:Burgess 2009:18611979}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"II:1"
"00403041"	""	""	""	"1"	""	"00000"	"{PMID:Burgess 2009:18611979}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"II:2"
"00403043"	""	""	""	"1"	""	"00000"	"{PMID:Testa 2008:18703557}"	""	"M"	""	"Italy"	""	"0"	""	""	""	"II:1"
"00403044"	""	""	""	"1"	""	"00000"	"{PMID:Testa 2008:18703557}"	""	"F"	""	"Italy"	""	"0"	""	""	""	"III:1"
"00403045"	""	""	""	"1"	""	"00000"	"{PMID:Testa 2008:18703557}"	""	"M"	""	"Italy"	""	"0"	""	""	""	"III:2"
"00403046"	""	""	""	"1"	""	"00000"	"{PMID:Atchaneeyasakul 2008:18766995}"	"proband"	"M"	""	"Thailand"	""	"0"	""	""	""	"1a"
"00403047"	""	""	""	"1"	""	"00000"	"{PMID:Atchaneeyasakul 2008:18766995}"	"proband\'s elder sister; probable localisation in the pedigree"	"F"	""	"Thailand"	""	"0"	""	""	""	"proband\'s elder sister"
"00403048"	""	""	""	"1"	""	"00000"	"{PMID:Atchaneeyasakul 2008:18766995}"	"proband\'s daugther; probable localisation in the pedigree"	"F"	""	"Thailand"	""	"0"	""	""	""	"proband\'s daugther"
"00403049"	""	""	""	"1"	""	"00000"	"{PMID:Atchaneeyasakul 2008:18766995}"	"proband"	"F"	""	"Thailand"	""	"0"	""	""	""	"1b"
"00403050"	""	""	""	"1"	""	"00000"	"{PMID:Atchaneeyasakul 2008:18766995}"	"proband\'s elder sister"	"F"	""	"Thailand"	""	"0"	""	""	""	"proband\'s elder sister"
"00403051"	""	""	""	"1"	""	"00000"	"{PMID:Atchaneeyasakul 2008:18766995}"	"proband\'s mother"	"F"	""	"Thailand"	""	"0"	""	""	""	"proband\'s mother"
"00403052"	""	""	""	"1"	""	"00000"	"{PMID:Atchaneeyasakul 2008:18766995}"	"proband\'s maternal grandmother"	"F"	""	"Thailand"	""	"0"	""	""	""	"proband\'s maternal grandmother"
"00403054"	""	""	""	"1"	""	"00000"	"{PMID: Ouyang 2008:18844018}"	"abstract only available, consecutive numbers given"	"?"	""	"China"	""	"0"	""	""	""	"1"
"00403055"	""	""	""	"1"	""	"00000"	"{PMID: Ouyang 2008:18844018}"	"abstract only available, consecutive numbers given"	"?"	""	"China"	""	"0"	""	""	""	"2"
"00403056"	""	""	""	"1"	""	"00000"	"{PMID: Ouyang 2008:18844018}"	"abstract only available, consecutive numbers given"	"?"	""	"China"	""	"0"	""	""	""	"3"
"00403057"	""	""	""	"1"	""	"00000"	"{PMID: Ouyang 2008:18844018}"	"abstract only available, consecutive numbers given"	"?"	""	"China"	""	"0"	""	""	""	"4"
"00403058"	""	""	""	"1"	""	"00000"	"{PMID: Ouyang 2008:18844018}"	"abstract only available, consecutive numbers given"	"?"	""	"China"	""	"0"	""	""	""	"5"
"00403061"	""	""	""	"1"	""	"00000"	"{PMID:Gerth 2009:18985398}"	""	"M"	""	"Canada"	""	"0"	""	""	""	"?"
"00403062"	""	""	""	"1"	""	"00000"	"{PMID:Boon 2009:19357557}"	"Family A, individual II.2"	"F"	""	"Netherlands"	""	"0"	""	""	""	"A-II.2"
"00403063"	""	""	""	"1"	""	"00000"	"{PMID:Boon 2009:19357557}"	"Family A, individual III.1"	"F"	""	"Netherlands"	""	"0"	""	""	""	"A-III.1"
"00403064"	""	""	""	"1"	""	"00000"	"{PMID:Boon 2009:19357557}"	"Family B, individual III.1"	"F"	""	"Netherlands"	""	"0"	""	""	""	"B-III.1"
"00403065"	""	""	""	"1"	""	"00000"	"{PMID:Boon 2009:19357557}"	"Family C, individual II.1"	"M"	""	"Netherlands"	""	"0"	""	""	""	"C-II.1"
"00403066"	""	""	""	"1"	""	"00000"	"{PMID:Boon 2009:19357557}"	"Family C, individual III.1"	"M"	""	"Netherlands"	""	"0"	""	""	""	"C-III.1"
"00403067"	""	""	""	"1"	""	"00000"	"{PMID:Boon 2009:19357557}"	"Family D, individual III.4"	"M"	""	"Netherlands"	""	"0"	""	""	""	"D-III.4"
"00403068"	""	""	""	"1"	""	"00000"	"{PMID:Boon 2009:19357557}"	"Family D, individual IV.3"	"M"	""	"Netherlands"	""	"0"	""	""	""	"D-IV.3"
"00403069"	""	""	""	"1"	""	"00000"	"{PMID:Boon 2009:19357557}"	"Family E, individual III.1"	"M"	""	"Netherlands"	""	"0"	""	""	""	"E-III.1"
"00403070"	""	""	""	"1"	""	"00000"	"{PMID:Boon 2009:19357557}"	"Family F, individual III.5"	"M"	""	"Netherlands"	""	"0"	""	""	""	"F-III.5"
"00403071"	""	""	""	"1"	""	"00000"	"{PMID:Boon 2009:19357557}"	"Family G, individual II.1"	"M"	""	"Netherlands"	""	"0"	""	""	""	"G-II.1"
"00403072"	""	""	""	"1"	""	"00000"	"{PMID:Boon 2009:19357557}"	"Family H, individual II.1"	"F"	""	"Netherlands"	""	"0"	""	""	""	"H-II.1"
"00403073"	""	""	""	"1"	""	"00000"	"{PMID:Boon 2009:19357557}"	"Family I, individual III.2"	"M"	""	"Netherlands"	""	"0"	""	""	""	"I-III.2"
"00403074"	""	""	""	"1"	""	"00000"	"{PMID:Boon 2009:19357557}"	"Family J, individual II.2"	"M"	""	"Netherlands"	""	"0"	""	""	""	"J-II.2"
"00403075"	""	""	""	"1"	""	"00000"	"{PMID:Boon 2009:19357557}"	"Family K, individual IV.1"	"F"	""	"Netherlands"	""	"0"	""	""	""	"K-IV.1"
"00403076"	""	""	""	"1"	""	"00000"	"{PMID:Boon 2009:19357557}"	"Family L, individual III.1"	"F"	""	"Netherlands"	""	"0"	""	""	""	"L-III.1"
"00403077"	""	""	""	"1"	""	"00000"	"{PMID:Boon 2009:19357557}"	"Family M, individual III.4"	"F"	""	"Netherlands"	""	"0"	""	""	""	"M-III.4"
"00403078"	""	""	""	"1"	""	"00000"	"{PMID:Boon 2009:19357557}"	"Family M, individual IV.3"	"F"	""	"Netherlands"	""	"0"	""	""	""	"M-IV.3"
"00403079"	""	""	""	"1"	""	"00000"	"{PMID:Boon 2009:19357557}"	"Family M, individual IV.4"	"F"	""	"Netherlands"	""	"0"	""	""	""	"M-IV.4"
"00403080"	""	""	""	"1"	""	"00000"	"{PMID:Boon 2009:19357557}"	"Family N, individual III.1"	"F"	""	"Netherlands"	""	"0"	""	""	""	"N-III.1"
"00403081"	""	""	""	"1"	""	"00000"	"{PMID:Boon 2009:19357557}"	"Family O, individual III.3"	"M"	""	"Netherlands"	""	"0"	""	""	""	"O-III.3"
"00403082"	""	""	""	"1"	""	"00000"	"{PMID:Sohn 2009:19597114}"	"proband 1"	"M"	""	"United States"	""	"0"	""	""	""	"1"
"00403083"	""	""	""	"1"	""	"00000"	"{PMID:Sohn 2009:19597114}"	"asymptomatic mother of proband 1"	"F"	""	"United States"	""	"0"	""	""	""	"1"
"00403084"	""	""	""	"1"	""	"00000"	"{PMID:Sohn 2009:19597114}"	"proband 2"	"M"	""	"United States"	""	"0"	""	""	""	"2"
"00403085"	""	""	""	"1"	""	"00000"	"{PMID:Sohn 2009:19597114}"	"proband 3"	"F"	""	"United States"	""	"0"	""	""	""	"3"
"00403118"	""	""	""	"1"	""	"00000"	"{PMID:Davidson 2009:19853238}"	"Family 1, proband"	"M"	""	"United States"	""	"0"	""	""	"white"	"1.IV-13"
"00403119"	""	""	""	"1"	""	"00000"	"{PMID:Davidson 2009:19853238}"	"Family 1, proband\'s paternal grandmother"	"F"	""	"United States"	""	"0"	""	""	"white"	"1.II-2"
"00403120"	""	""	""	"1"	""	"00000"	"{PMID:Davidson 2009:19853238}"	"Family 1, proband\'s paternal uncle 3"	"M"	""	"United States"	""	"0"	""	""	"white"	"1.III-3"
"00403121"	""	""	""	"1"	""	"00000"	"{PMID:Davidson 2009:19853238}"	"Family 1, proband\'s paternal uncle 4"	"M"	""	"United States"	""	"0"	""	""	"white"	"1.III-4"
"00403122"	""	""	""	"1"	""	"00000"	"{PMID:Davidson 2009:19853238}"	"Family 1, proband\'s paternal aunt"	"F"	""	"United States"	""	"0"	""	""	"white"	"1.III-5"
"00403123"	""	""	""	"1"	""	"00000"	"{PMID:Davidson 2009:19853238}"	"Family 1, proband\'s father"	"M"	""	"United States"	""	"0"	""	""	"white"	"1.III-7"
"00403124"	""	""	""	"1"	""	"00000"	"{PMID:Davidson 2009:19853238}"	"Family 1, proband\'s grandmother\'s sister\'s son"	"M"	""	"United States"	""	"0"	""	""	"white"	"1.III-10"
"00403125"	""	""	""	"1"	""	"00000"	"{PMID:Davidson 2009:19853238}"	"Family 1, proband son of uncle 4"	"M"	""	"United States"	""	"0"	""	""	"white"	"1.IV-7"
"00403126"	""	""	""	"1"	""	"00000"	"{PMID:Davidson 2009:19853238}"	"Family 1, proband\'s grandmother\'s sister\'s son\'s son 1"	"M"	""	"United States"	""	"0"	""	""	"white"	"1.IV-14"
"00403127"	""	""	""	"1"	""	"00000"	"{PMID:Davidson 2009:19853238}"	"Family 1, proband\'s grandmother\'s sister\'s son\'s son 2"	"M"	""	"United States"	""	"0"	""	""	"white"	"1.IV-15"
"00403128"	""	""	""	"1"	""	"00000"	"{PMID:Davidson 2009:19853238}"	"Family 2, proband, P1 in Milam et al. 2001"	"F"	""	"United States"	""	"0"	""	""	"white"	"2.P1"
"00403129"	""	""	""	"1"	""	"00000"	"{PMID:Davidson 2009:19853238}"	"Family 2, proband\'s brother, P2 in Milam et al. 2001"	"M"	""	"United States"	""	"0"	""	""	"white"	"2.P2"
"00403130"	""	""	""	"1"	""	"00000"	"{PMID:Davidson 2009:19853238}"	"Family 3, proband"	"M"	""	"United States"	""	"0"	""	""	"white"	"3.1"
"00403131"	""	""	""	"1"	""	"00000"	"{PMID:Davidson 2009:19853238}"	"Family 3, proband\'s mother"	"F"	""	"United States"	""	"0"	""	""	"white"	"3.2"
"00403132"	""	""	""	"1"	""	"00000"	"{PMID:Davidson 2009:19853238}"	"Family 4, proband"	"F"	""	"United States"	""	"0"	""	""	"white"	"4"
"00403133"	""	""	""	"1"	""	"00000"	"{PMID:Davidson 2009:19853238}"	"Family 5, proband"	"F"	""	"United States"	""	"0"	""	""	"Pakistani"	"5.III-5"
"00403134"	""	""	""	"1"	""	"00000"	"{PMID:Davidson 2009:19853238}"	"Family 5, proband\'s father"	"M"	""	"United States"	""	"0"	""	""	"Pakistani"	"5.II-6"
"00403135"	""	""	""	"1"	""	"00000"	"{PMID:Davidson 2009:19853238}"	"Family 5, proband\'s sister"	"F"	""	"United States"	""	"0"	""	""	"Pakistani"	"5.III-2"
"00403137"	""	""	""	"1"	""	"00000"	"{PMID:Wong 2009:20057343}"	"Family A, individual I-1 (father)"	"M"	""	"China"	""	"0"	""	""	""	"A:I-1"
"00403138"	""	""	""	"1"	""	"00000"	"{PMID:Wong 2009:20057343}"	"Family A, individual I-2 (mpther)"	"F"	""	"China"	""	"0"	""	""	""	"A:I-2"
"00403139"	""	""	""	"1"	""	"00000"	"{PMID:Wong 2009:20057343}"	"Family A, individual II-2 (proband)"	"M"	""	"China"	""	"0"	""	""	""	"A:II-2"
"00403140"	""	""	""	"1"	""	"00000"	"{PMID:Wong 2009:20057343}"	"Family A, individual II-4 (proband\'s brother 1)"	"M"	""	"China"	""	"0"	""	""	""	"A:II-4"
"00403141"	""	""	""	"1"	""	"00000"	"{PMID:Wong 2009:20057343}"	"Family A, individual II-5 (proband\'s brother 2)"	"M"	""	"China"	""	"0"	""	""	""	"A:II-5"
"00403142"	""	""	""	"1"	""	"00000"	"{PMID:Wong 2009:20057343}"	"Family A, individual III-1 (proband\'s daughter 1)"	"F"	""	"China"	""	"0"	""	""	""	"A:III-1"
"00403143"	""	""	""	"1"	""	"00000"	"{PMID:Wong 2009:20057343}"	"Family A, individual III-2 (proband\'s daughter 2)"	"F"	""	"China"	""	"0"	""	""	""	"A:III-2"
"00403144"	""	""	""	"1"	""	"00000"	"{PMID:Wong 2009:20057343}"	"Family A, individual III-3  (proband\'s daughter 3)"	"F"	""	"China"	""	"0"	""	""	""	"A:III-3"
"00403145"	""	""	""	"1"	""	"00000"	"{PMID:Wong 2009:20057343}"	"Family A, individual III-4 (proband\'s daughter 4)"	"F"	""	"China"	""	"0"	""	""	""	"A:III-4"
"00403146"	""	""	""	"1"	""	"00000"	"{PMID:Wong 2009:20057343}"	"Family B, individual I-1 (proband)"	"M"	""	"China"	""	"0"	""	""	""	"B:I-1"
"00403147"	""	""	""	"1"	""	"00000"	"{PMID:Wong 2009:20057343}"	"Family C, individual I-1 (proband)"	"M"	""	"China"	""	"0"	""	""	""	"C:I-1"
"00403148"	""	""	""	"1"	""	"00000"	"{PMID:Wong 2009:20057343}"	"Family D, individual I-1 (proband)"	"F"	""	"China"	""	"0"	""	""	""	"D:I-1"
"00403149"	""	""	""	"1"	""	"00000"	"{PMID:Wong 2009:20057343}"	"Family E, individual I-1 (proband)"	"M"	""	"China"	""	"0"	""	""	""	"E:I-1"
"00403150"	""	""	""	"1"	""	"00000"	"{PMID:Wong 2009:20057343}"	"Family E, individual II-3 (proband\'s son)"	"F"	""	"China"	""	"0"	""	""	""	"E:II-3"
"00403151"	""	""	""	"1"	""	"00000"	"{PMID:Wong 2009:20057343}"	"Family F, individual I-1 (proband)"	"M"	""	"China"	""	"0"	""	""	""	"F:I-1"
"00403152"	""	""	""	"1"	""	"00000"	"{PMID:Wong 2009:20057343}"	"Family G, individual I-2 (proband\'s mother)"	"F"	""	"China"	""	"0"	""	""	""	"G:I-2"
"00403153"	""	""	""	"1"	""	"00000"	"{PMID:Wong 2009:20057343}"	"Family G, individual II-1  (proband\'s sister)"	"M"	""	"China"	""	"0"	""	""	""	"G:II-1"
"00403154"	""	""	""	"1"	""	"00000"	"{PMID:Wong 2009:20057343}"	"Family G, individual II-2  (proband)"	"F"	""	"China"	""	"0"	""	""	""	"G:II-2"
"00403166"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2009:20057903}"	""	"M"	""	"France"	""	"0"	""	""	""	"FG01 (FamilyFG I)"
"00403167"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2009:20057903}"	""	"F"	""	"France"	""	"0"	""	""	""	"FG02 (FamilyFG I)"
"00403168"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2009:20057903}"	""	"M"	""	"France"	""	"0"	""	""	""	"FG03 (FamilyFG I)"
"00403169"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2009:20057903}"	""	"F"	""	"France"	""	"0"	""	""	""	"FG04 (FamilyFG I)"
"00403170"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2009:20057903}"	""	"F"	""	"France"	""	"0"	""	""	""	"FG05 (FamilyFG I)"
"00403171"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2009:20057903}"	""	"F"	""	"France"	""	"0"	""	""	""	"FG06 (FamilyFG II)"
"00403172"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2009:20057903}"	""	"M"	""	"France"	""	"0"	""	""	""	"FG07 (FamilyFG II)"
"00403173"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2009:20057903}"	""	"F"	""	"France"	""	"0"	""	""	""	"FG08 (FamilyFG III)"
"00403174"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2009:20057903}"	""	"F"	""	"France"	""	"0"	""	""	""	"FG09 (FamilyFG IV)"
"00403175"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2009:20057903}"	""	"M"	""	"France"	""	"0"	""	""	""	"FG10 (FamilyFG IV)"
"00403176"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2009:20057903}"	""	"M"	""	"France"	""	"0"	""	""	""	"CT01 (FamilyCT I)"
"00403177"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2009:20057903}"	""	"M"	""	"France"	""	"0"	""	""	""	"CT02 (FamilyCT II)"
"00403178"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2009:20057903}"	""	"F"	""	"France"	""	"0"	""	""	""	"CT03 (FamilyCT II)"
"00403179"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2009:20057903}"	""	"M"	""	"France"	""	"0"	""	""	""	"CT04 (FamilyCT II)"
"00403180"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2009:20057903}"	""	"M"	""	"France"	""	"0"	""	""	""	"CT05 (FamilyCT III)"
"00403181"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2009:20057903}"	""	"F"	""	"France"	""	"0"	""	""	""	"CT06 (FamilyCT III)"
"00403182"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2009:20057903}"	""	"F"	""	"France"	""	"0"	""	""	""	"CT07 (FamilyCT IV)"
"00403183"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2009:20057903}"	""	"F"	""	"France"	""	"0"	""	""	""	"CT08 (FamilyCT IV)"
"00403184"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2009:20057903}"	""	"F"	""	"France"	""	"0"	""	""	""	"CT09 (FamilyCT V)"
"00403185"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2009:20057903}"	""	"F"	""	"France"	""	"0"	""	""	""	"CT10 (FamilyCT V)"
"00403186"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2009:20057903}"	""	"M"	""	"France"	""	"0"	""	""	""	"CT11 (FamilyCT V)"
"00403187"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2009:20057903}"	""	"M"	""	"France"	""	"0"	""	""	""	"CT12 (FamilyCT VI)"
"00403188"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2009:20057903}"	""	"F"	""	"France"	""	"0"	""	""	""	"CT13 (FamilyCT VI)"
"00403545"	""	""	""	"1"	""	"00000"	"{PMID:Schatz 2010:20375334}"	"family SI, individual I:1"	"M"	""	""	""	"0"	""	""	"Swedish"	"SI-I:1"
"00403546"	""	""	""	"1"	""	"00000"	"{PMID:Schatz 2010:20375334}"	"family SI, individual I:2"	"F"	""	""	""	"0"	""	""	"Swedish"	"SI-I:2"
"00403547"	""	""	""	"1"	""	"00000"	"{PMID:Schatz 2010:20375334}"	"family SI, individual II:1"	"F"	""	""	""	"0"	""	""	"Swedish"	"SI-II:1"
"00403548"	""	""	""	"1"	""	"00000"	"{PMID:Schatz 2010:20375334}"	"family SI, individual II:2"	"F"	""	""	""	"0"	""	""	"Swedish"	"SI-II:2"
"00403549"	""	""	""	"1"	""	"00000"	"{PMID:Schatz 2010:20375334}"	"family SII, individual II:2"	"M"	""	""	""	"0"	""	""	"Swedish"	"SII-II:2"
"00403550"	""	""	""	"1"	""	"00000"	"{PMID:Schatz 2010:20375334}"	"family SII, individual III:1"	"F"	""	""	""	"0"	""	""	"Swedish"	"SII-III:1"
"00403551"	""	""	""	"1"	""	"00000"	"{PMID:Schatz 2010:20375334}"	"family SII, individual IV:1"	"F"	""	""	""	"0"	""	""	"Swedish"	"SII-IV:1"
"00403552"	""	""	""	"1"	""	"00000"	"{PMID:Schatz 2010:20375334}"	"family SIII, individual III:1"	"F"	""	""	""	"0"	""	""	"Swedish"	"SIII-III:1"
"00403553"	""	""	""	"1"	""	"00000"	"{PMID:Schatz 2010:20375334}"	"family SIV, individual VII:8"	"M"	""	""	""	"0"	""	""	"Swedish"	"SIV-VII:8"
"00403554"	""	""	""	"1"	""	"00000"	"{PMID:Schatz 2010:20375334}"	"family SIV, individual VI:9"	"F"	""	""	""	"0"	""	""	"Swedish"	"SIV-VI:9"
"00403555"	""	""	""	"1"	""	"00000"	"{PMID:Schatz 2010:20375334}"	"family SIV, individual VII:1"	"F"	""	""	""	"0"	""	""	"Swedish"	"SIV-VII:1"
"00403556"	""	""	""	"1"	""	"00000"	"{PMID:Schatz 2010:20375334}"	"family SIV, individual VII:14"	"F"	""	""	""	"0"	""	""	"Swedish"	"SIV-VII:14"
"00403557"	""	""	""	"1"	""	"00000"	"{PMID:Schatz 2010:20375334}"	"family SIV, individual VIII:4"	"M"	""	""	""	"0"	""	""	"Swedish"	"SIV-VIII:4"
"00403558"	""	""	""	"1"	""	"00000"	"{PMID:Schatz 2010:20375334}"	"family SV, individual III:1"	"F"	""	""	""	"0"	""	""	"Swedish"	"SV-III:1"
"00403559"	""	""	""	"1"	""	"00000"	"{PMID:Schatz 2010:20375334}"	"family SV, individual IV:1"	"F"	""	""	""	"0"	""	""	"Swedish"	"SV-IV:1"
"00403560"	""	""	""	"1"	""	"00000"	"{PMID:Schatz 2010:20375334}"	"family DI, individual III:1"	"M"	""	""	""	"0"	""	""	"Danish"	"DI-III:1"
"00403561"	""	""	""	"1"	""	"00000"	"{PMID:Schatz 2010:20375334}"	"family DI, individual III:2"	"F"	""	""	""	"0"	""	""	"Danish"	"DI-III:2"
"00403562"	""	""	""	"1"	""	"00000"	"{PMID:Schatz 2010:20375334}"	"family DI, individual IV:1"	"M"	""	""	""	"0"	""	""	"Danish"	"DI-IV:1"
"00403563"	""	""	""	"1"	""	"00000"	"{PMID:Schatz 2010:20375334}"	"family DII, individual II:1"	"M"	""	""	""	"0"	""	""	"Danish"	"DII-II:1"
"00403564"	""	""	""	"1"	""	"00000"	"{PMID:Schatz 2010:20375334}"	"family DII, individual III:7"	"M"	""	""	""	"0"	""	""	"Danish"	"DII-III:7"
"00403565"	""	""	""	"1"	""	"00000"	"{PMID:Schatz 2010:20375334}"	"family DIII, individual I:1"	"M"	""	""	""	"0"	""	""	"Danish"	"DIII-I:1"
"00403566"	""	""	""	"1"	""	"00000"	"{PMID:Schatz 2010:20375334}"	"family DIII, individual II:1"	"M"	""	""	""	"0"	""	""	"Danish"	"DIII-II:1"
"00403567"	""	""	""	"1"	""	"00000"	"{PMID:Schatz 2010:20375334}"	"family DIV, individual II:1"	"F"	""	""	""	"0"	""	""	"Danish"	"DIV-II:1"
"00403568"	""	""	""	"1"	""	"00000"	"{PMID:Schatz 2010:20375334}"	"family DIV, individual II:2"	"F"	""	""	""	"0"	""	""	"Danish"	"DIV-II:2"
"00403569"	""	""	""	"1"	""	"00000"	"{PMID:Vincent 2011:21072067}"	""	"F"	""	"Canada"	""	"0"	""	""	""	"II 1"
"00403570"	""	""	""	"1"	""	"00000"	"{PMID:Vincent 2011:21072067}"	""	"M"	""	"Canada"	""	"0"	""	""	""	"III 2"
"00403571"	""	""	""	"1"	""	"00000"	"{PMID:Vincent 2011:21072067}"	""	"F"	""	"Canada"	""	"0"	""	""	""	"IV 2"
"00403574"	""	""	""	"1"	""	"00000"	"{PMID:Chacon-Camacho 2011:21077756}"	"family 1, proband\'s father"	"M"	"yes"	"Mexico"	""	"0"	""	""	""	"1-I:2"
"00403575"	""	""	""	"1"	""	"00000"	"{PMID:Chacon-Camacho 2011:21077756}"	"family 1, proband"	"F"	"yes"	"Mexico"	""	"0"	""	""	""	"1-II:1"
"00403576"	""	""	""	"1"	""	"00000"	"{PMID:Chacon-Camacho 2011:21077756}"	"family 1, proband\'s brother"	"M"	"yes"	"Mexico"	""	"0"	""	""	""	"1-II:4"
"00403577"	""	""	""	"1"	""	"00000"	"{PMID:Chacon-Camacho 2011:21077756}"	"family 1, proband\'s son 1"	"M"	"yes"	"Mexico"	""	"0"	""	""	""	"1-III:1"
"00403578"	""	""	""	"1"	""	"00000"	"{PMID:Chacon-Camacho 2011:21077756}"	"family 1, proband\'s daughter"	"F"	"yes"	"Mexico"	""	"0"	""	""	""	"1-III:2"
"00403579"	""	""	""	"1"	""	"00000"	"{PMID:Chacon-Camacho 2011:21077756}"	"family 1, proband\'s son 2"	"M"	"yes"	"Mexico"	""	"0"	""	""	""	"1-III:3"
"00403580"	""	""	""	"1"	""	"00000"	"{PMID:Chacon-Camacho 2011:21077756}"	"family 1, proband\'s brother\'s daughter"	"F"	"yes"	"Mexico"	""	"0"	""	""	""	"1-III:11"
"00403581"	""	""	""	"1"	""	"00000"	"{PMID:Chacon-Camacho 2011:21077756}"	"family 2, proband"	"M"	""	"Mexico"	""	"0"	""	""	""	"2-II:4"
"00403582"	""	""	""	"1"	""	"00000"	"{PMID:Chacon-Camacho 2011:21077756}"	"family 2, proband\'s son"	"F"	""	"Mexico"	""	"0"	""	""	""	"2-III:3"
"00403583"	""	""	""	"1"	""	"00000"	"{PMID:Chacon-Camacho 2011:21077756}"	"family 2, proband\'s son\'s son 1"	"M"	""	"Mexico"	""	"0"	""	""	""	"2-IV:5"
"00403584"	""	""	""	"1"	""	"00000"	"{PMID:Chacon-Camacho 2011:21077756}"	"family 2, proband\'s son\'s son 2"	"M"	""	"Mexico"	""	"0"	""	""	""	"2-IV:6"
"00403592"	""	""	""	"1"	""	"00000"	"{PMID:Cohn 2010:21109774}"	"family FAM-01, 4 individuals"	"?"	""	"Australia"	""	"0"	""	""	""	"FAM-01.1"
"00403593"	""	""	""	"1"	""	"00000"	"{PMID:Cohn 2010:21109774}"	"family FAM-01, 4 individuals"	"?"	""	"Australia"	""	"0"	""	""	""	"FAM-01.2"
"00403594"	""	""	""	"1"	""	"00000"	"{PMID:Cohn 2010:21109774}"	"family FAM-01, 4 individuals"	"?"	""	"Australia"	""	"0"	""	""	""	"FAM-01.3"
"00403595"	""	""	""	"1"	""	"00000"	"{PMID:Cohn 2010:21109774}"	"family FAM-01, 4 individuals"	"?"	""	"Australia"	""	"0"	""	""	""	"FAM-01.4"
"00403596"	""	""	""	"1"	""	"00000"	"{PMID:Cohn 2010:21109774}"	"family FAM-05, 3 individuals"	"?"	""	"Australia"	""	"0"	""	""	""	"FAM-05.1"
"00403597"	""	""	""	"1"	""	"00000"	"{PMID:Cohn 2010:21109774}"	"family FAM-05, 3 individuals"	"?"	""	"Australia"	""	"0"	""	""	""	"FAM-05.2"
"00403598"	""	""	""	"1"	""	"00000"	"{PMID:Cohn 2010:21109774}"	"family FAM-05, 3 individuals"	"?"	""	"Australia"	""	"0"	""	""	""	"FAM-05.3"
"00403599"	""	""	""	"1"	""	"00000"	"{PMID:Cohn 2010:21109774}"	"family FAM-08, 4 individuals"	"?"	""	"Australia"	""	"0"	""	""	""	"FAM-08.1"
"00403600"	""	""	""	"1"	""	"00000"	"{PMID:Cohn 2010:21109774}"	"family FAM-08, 4 individuals"	"?"	""	"Australia"	""	"0"	""	""	""	"FAM-08.2"
"00403601"	""	""	""	"1"	""	"00000"	"{PMID:Cohn 2010:21109774}"	"family FAM-08, 4 individuals"	"?"	""	"Australia"	""	"0"	""	""	""	"FAM-08.3"
"00403602"	""	""	""	"1"	""	"00000"	"{PMID:Cohn 2010:21109774}"	"family FAM-08, 4 individuals"	"?"	""	"Australia"	""	"0"	""	""	""	"FAM-08.4"
"00403603"	""	""	""	"1"	""	"00000"	"{PMID:Cohn 2010:21109774}"	"family FAM-09, 1 individual"	"?"	""	"Australia"	""	"0"	""	""	""	"FAM-09.2"
"00403604"	""	""	""	"1"	""	"00000"	"{PMID:Cohn 2010:21109774}"	"family FAM-11, 8 individuals"	"?"	""	"Australia"	""	"0"	""	""	""	"FAM-11.1"
"00403605"	""	""	""	"1"	""	"00000"	"{PMID:Cohn 2010:21109774}"	"family FAM-11, 8 individuals"	"?"	""	"Australia"	""	"0"	""	""	""	"FAM-11.2"
"00403606"	""	""	""	"1"	""	"00000"	"{PMID:Cohn 2010:21109774}"	"family FAM-11, 8 individuals"	"?"	""	"Australia"	""	"0"	""	""	""	"FAM-11.3"
"00403607"	""	""	""	"1"	""	"00000"	"{PMID:Cohn 2010:21109774}"	"family FAM-11, 8 individuals"	"?"	""	"Australia"	""	"0"	""	""	""	"FAM-11.4"
"00403608"	""	""	""	"1"	""	"00000"	"{PMID:Cohn 2010:21109774}"	"family FAM-11, 8 individuals"	"?"	""	"Australia"	""	"0"	""	""	""	"FAM-11.5"
"00403609"	""	""	""	"1"	""	"00000"	"{PMID:Cohn 2010:21109774}"	"family FAM-11, 8 individuals"	"?"	""	"Australia"	""	"0"	""	""	""	"FAM-11.6"
"00403610"	""	""	""	"1"	""	"00000"	"{PMID:Cohn 2010:21109774}"	"family FAM-11, 8 individuals"	"?"	""	"Australia"	""	"0"	""	""	""	"FAM-11.7"
"00403611"	""	""	""	"1"	""	"00000"	"{PMID:Cohn 2010:21109774}"	"family FAM-11, 8 individuals"	"?"	""	"Australia"	""	"0"	""	""	""	"FAM-11.8"
"00403612"	""	""	""	"1"	""	"00000"	"{PMID:Cohn 2010:21109774}"	"family FAM-12, 3 individuals"	"?"	""	"Australia"	""	"0"	""	""	""	"FAM-12.1"
"00403613"	""	""	""	"1"	""	"00000"	"{PMID:Cohn 2010:21109774}"	"family FAM-12, 3 individuals"	"?"	""	"Australia"	""	"0"	""	""	""	"FAM-12.2"
"00403614"	""	""	""	"1"	""	"00000"	"{PMID:Cohn 2010:21109774}"	"family FAM-12, 3 individuals"	"?"	""	"Australia"	""	"0"	""	""	""	"FAM-12.3"
"00403615"	""	""	""	"1"	""	"00000"	"{PMID:Cohn 2010:21109774}"	"family FAM-14, 2 individuals"	"?"	""	"Australia"	""	"0"	""	""	""	"FAM-14.1"
"00403616"	""	""	""	"1"	""	"00000"	"{PMID:Cohn 2010:21109774}"	"family FAM-14, 2 individuals"	"?"	""	"Australia"	""	"0"	""	""	""	"FAM-14.2"
"00403617"	""	""	""	"1"	""	"00000"	"{PMID:Cohn 2010:21109774}"	"family FAM-15, 2 individuals"	"?"	""	"Australia"	""	"0"	""	""	""	"FAM-15.1"
"00403618"	""	""	""	"1"	""	"00000"	"{PMID:Cohn 2010:21109774}"	"family FAM-15, 2 individuals"	"?"	""	"Australia"	""	"0"	""	""	""	"FAM-15.2"
"00403619"	""	""	""	"1"	""	"00000"	"{PMID:Cohn 2010:21109774}"	"family FAM-17, 3 individuals"	"?"	""	"Australia"	""	"0"	""	""	""	"FAM-17.1"
"00403620"	""	""	""	"1"	""	"00000"	"{PMID:Cohn 2010:21109774}"	"family FAM-17, 3 individuals"	"?"	""	"Australia"	""	"0"	""	""	""	"FAM-17.2"
"00403621"	""	""	""	"1"	""	"00000"	"{PMID:Cohn 2010:21109774}"	"family FAM-17, 3 individuals"	"?"	""	"Australia"	""	"0"	""	""	""	"FAM-17.3"
"00403622"	""	""	""	"1"	""	"00000"	"{PMID:Cohn 2010:21109774}"	"family FAM-25, 2 individuals"	"?"	""	"Australia"	""	"0"	""	""	""	"FAM-25.1"
"00403623"	""	""	""	"1"	""	"00000"	"{PMID:Cohn 2010:21109774}"	"family FAM-25, 2 individuals"	"?"	""	"Australia"	""	"0"	""	""	""	"FAM-25.2"
"00403624"	""	""	""	"1"	""	"00000"	"{PMID:Cohn 2010:21109774}"	"family FAM-26, 1 individual"	"?"	""	"Australia"	""	"0"	""	""	""	"FAM-26.1"
"00403625"	""	""	""	"1"	""	"00000"	"{PMID:Cohn 2010:21109774}"	"family FAM-27, 1 individual"	"?"	""	"Australia"	""	"0"	""	""	""	"FAM-27.1"
"00403626"	""	""	""	"1"	""	"00000"	"{PMID:Cohn 2010:21109774}"	"family FAM-32, 5 individuals"	"?"	""	"Australia"	""	"0"	""	""	""	"FAM-32.1"
"00403627"	""	""	""	"1"	""	"00000"	"{PMID:Cohn 2010:21109774}"	"family FAM-32, 5 individuals"	"?"	""	"Australia"	""	"0"	""	""	""	"FAM-32.2"
"00403628"	""	""	""	"1"	""	"00000"	"{PMID:Cohn 2010:21109774}"	"family FAM-32, 5 individuals"	"?"	""	"Australia"	""	"0"	""	""	""	"FAM-32.3"
"00403629"	""	""	""	"1"	""	"00000"	"{PMID:Cohn 2010:21109774}"	"family FAM-32, 5 individuals"	"?"	""	"Australia"	""	"0"	""	""	""	"FAM-32.4"
"00403630"	""	""	""	"1"	""	"00000"	"{PMID:Cohn 2010:21109774}"	"family FAM-32, 5 individuals"	"?"	""	"Australia"	""	"0"	""	""	""	"FAM-32.5"
"00403631"	""	""	""	"1"	""	"00000"	"{PMID:Cohn 2010:21109774}"	"family FAM-33, 1 individual"	"?"	""	"Australia"	""	"0"	""	""	""	"FAM-33.1"
"00403632"	""	""	""	"1"	""	"00000"	"{PMID:Cohn 2010:21109774}"	"family FAM-35, 1 individual"	"?"	""	"Australia"	""	"0"	""	""	""	"FAM-35.1"
"00403683"	""	""	""	"1"	""	"00000"	"{PMID:Davidson 2010:21203346}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Subject 1"
"00403684"	""	""	""	"1"	""	"00000"	"{PMID:Davidson 2010:21203346}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Subject 2"
"00403698"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2011:21242858}"	"Family B01, patient1"	"F"	""	"France"	""	"0"	""	""	""	"Patient 1"
"00403699"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2011:21242858}"	"Family B01, patient2"	"F"	""	"France"	""	"0"	""	""	""	"Patient 2"
"00403700"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2011:21242858}"	"Family B02, patient3"	"M"	""	"France"	""	"0"	""	""	""	"Patient 3"
"00403701"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2011:21242858}"	"Family B02, patient4"	"M"	""	"France"	""	"0"	""	""	""	"Patient 4"
"00403702"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2011:21242858}"	"Family B03, patient5"	"M"	""	"France"	""	"0"	""	""	""	"Patient 5"
"00403703"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2011:21242858}"	"Family B03, patient6"	"F"	""	"France"	""	"0"	""	""	""	"Patient 6"
"00403704"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2011:21242858}"	"Family B03, patient7"	"M"	""	"France"	""	"0"	""	""	""	"Patient 7"
"00403705"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2011:21242858}"	"Family B04, patient8"	"M"	""	"France"	""	"0"	""	""	""	"Patient 8"
"00403706"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2011:21242858}"	"Family B04, patient9"	"F"	""	"France"	""	"0"	""	""	""	"Patient 9"
"00403707"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2011:21242858}"	"Family B05, patient10"	"F"	""	"France"	""	"0"	""	""	""	"Patient 10"
"00403708"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2011:21242858}"	"Family B05, patient11"	"F"	""	"France"	""	"0"	""	""	""	"Patient 11"
"00403709"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2011:21242858}"	"Family B05, patient12"	"M"	""	"France"	""	"0"	""	""	""	"Patient 12"
"00403710"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2011:21242858}"	"Family B06, patient13"	"M"	""	"France"	""	"0"	""	""	""	"Patient 13"
"00403711"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2011:21242858}"	"Family B07, patient14"	"F"	""	"France"	""	"0"	""	""	""	"Patient 14"
"00403712"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2011:21242858}"	"Family B07, patient15"	"M"	""	"France"	""	"0"	""	""	""	"Patient 15"
"00403728"	""	""	""	"1"	""	"00000"	"{PMID:Kinnick 2011:21273940}"	"not affected"	"M"	""	"United States"	""	"0"	""	""	""	"BST-A I-1"
"00403729"	""	""	""	"1"	""	"00000"	"{PMID:Kinnick 2011:21273940}"	"not affected"	"M"	""	"United States"	""	"0"	""	""	""	"BST-A II-1"
"00403730"	""	""	""	"1"	""	"00000"	"{PMID:Kinnick 2011:21273940}"	"not affected"	"F"	""	"United States"	""	"0"	""	""	""	"BST-A II-2"
"00403731"	""	""	""	"1"	""	"00000"	"{PMID:Kinnick 2011:21273940}"	"not affected"	"M"	""	"United States"	""	"0"	""	""	""	"BST-A II-3"
"00403732"	""	""	""	"1"	""	"00000"	"{PMID:Kinnick 2011:21273940}"	"not affected"	"F"	""	"United States"	""	"0"	""	""	""	"BST-A II-4"
"00403733"	""	""	""	"1"	""	"00000"	"{PMID:Kinnick 2011:21273940}"	"proband"	"M"	""	"United States"	""	"0"	""	""	""	"BST-A III-1"
"00403734"	""	""	""	"1"	""	"00000"	"{PMID:Kinnick 2011:21273940}"	"affected"	"F"	""	"United States"	""	"0"	""	""	""	"BST-A III-2"
"00403735"	""	""	""	"1"	""	"00000"	"{PMID:Kinnick 2011:21273940}"	"not affected"	"F"	""	"United States"	""	"0"	""	""	""	"BST-B I-1"
"00403736"	""	""	""	"1"	""	"00000"	"{PMID:Kinnick 2011:21273940}"	"not affected"	"M"	""	"United States"	""	"0"	""	""	""	"BST-B I-2"
"00403737"	""	""	""	"1"	""	"00000"	"{PMID:Kinnick 2011:21273940}"	"proband"	"F"	""	"United States"	""	"0"	""	""	""	"BST-B II-1"
"00403738"	""	""	""	"1"	""	"00000"	"{PMID:Kinnick 2011:21273940}"	"asymptomatic based on visual acuity and electrooculogram"	"F"	""	"United States"	""	"0"	""	""	""	"BST-C I-1"
"00403739"	""	""	""	"1"	""	"00000"	"{PMID:Kinnick 2011:21273940}"	"asymptomatic based on visual acuity and electrooculogram"	"M"	""	"United States"	""	"0"	""	""	""	"BST-C I-2"
"00403740"	""	""	""	"1"	""	"00000"	"{PMID:Kinnick 2011:21273940}"	"proband"	"M"	""	"United States"	""	"0"	""	""	""	"BST-C II-3"
"00403741"	""	""	""	"1"	""	"00000"	"{PMID:Kinnick 2011:21273940}"	"affected"	"M"	""	"United States"	""	"0"	""	""	""	"BST-C II-4"
"00403742"	""	""	""	"1"	""	"00000"	"{PMID:Kinnick 2011:21273940}"	"asymptomatic based on visual acuity and electrooculogram"	"F"	""	"United States"	""	"0"	""	""	""	"BST-C II-5"
"00403743"	""	""	""	"1"	""	"00000"	"{PMID:Kinnick 2011:21273940}"	"proband"	"?"	""	"United States"	""	"0"	""	""	""	"BST-D"
"00403744"	""	""	""	"1"	""	"00000"	"{PMID:Kinnick 2011:21273940}"	"proband"	"?"	""	"United States"	""	"0"	""	""	""	"BST-E"
"00403745"	""	""	""	"1"	""	"00000"	"{PMID:Kinnick 2011:21273940}"	"proband"	"?"	""	"United States"	""	"0"	""	""	""	"BST-F"
"00403746"	""	""	""	"1"	""	"00000"	"{PMID:Kinnick 2011:21273940}"	"proband"	"?"	""	"United States"	""	"0"	""	""	""	"BST-G"
"00403747"	""	""	""	"1"	""	"00000"	"{PMID:Kinnick 2011:21273940}"	"proband"	"?"	""	"United States"	""	"0"	""	""	""	"BST-H"
"00403748"	""	""	""	"1"	""	"00000"	"{PMID:Kinnick 2011:21273940}"	"proband"	"?"	""	"United States"	""	"0"	""	""	""	"BST-I"
"00403753"	""	""	""	"1"	""	"00000"	"{PMID:Lacassagne 2011:21293734}"	""	"M"	""	"France"	""	"0"	""	""	""	"II-1"
"00403754"	""	""	""	"1"	""	"00000"	"{PMID:Lacassagne 2011:21293734}"	""	"F"	""	"France"	""	"0"	""	""	""	"II-2"
"00403755"	""	""	""	"1"	""	"00000"	"{PMID:Lacassagne 2011:21293734}"	""	"F"	""	"France"	""	"0"	""	""	""	"II-3"
"00403756"	""	""	""	"1"	""	"00000"	"{PMID:Lacassagne 2011:21293734}"	""	"M"	""	"France"	""	"0"	""	""	""	"III-1"
"00403757"	""	""	""	"1"	""	"00000"	"{PMID:Lacassagne 2011:21293734}"	""	"M"	""	"France"	""	"0"	""	""	""	"III-2"
"00403758"	""	""	""	"1"	""	"00000"	"{PMID:Lacassagne 2011:21293734}"	""	"M"	""	"France"	""	"0"	""	""	""	"III-4"
"00403773"	""	""	""	"1"	""	"00000"	"{PMID:Iannaccone 2011:21320969}"	""	"F"	""	"United States"	""	"0"	""	"serial bilateral 1.25-mg intravitreal bevacizumab injections performed under anesthesia"	"white"	"II:1"
"00403792"	""	""	""	"1"	""	"00000"	"{PMID:Wittstrom 2011:21192766}"	"proband"	"F"	""	"United States"	""	"0"	""	""	"white"	"III:2"
"00403793"	""	""	""	"1"	""	"00000"	"{PMID:Wittstrom 2011:21192766}"	"mother of proband"	"F"	""	"United States"	""	"0"	""	""	"white"	"II:2"
"00403794"	""	""	""	"1"	""	"00000"	"{PMID:Wittstrom 2011:21192766}"	"older brother of proband"	"M"	""	"United States"	""	"0"	""	""	"white"	"III:1"
"00403802"	""	""	""	"1"	""	"00000"	"{PMID:Guerriero 2011:21412020}"	"proband"	"M"	""	"Italy"	""	"0"	""	""	"white"	"7"
"00403810"	""	""	""	"1"	""	"00000"	"{PMID:Bitner 2011:21467170}"	"proband, family MOL0632"	"F"	"no"	"Israel"	""	"0"	""	""	"Jewish"	"IV:1"
"00403811"	""	""	""	"1"	""	"00000"	"{PMID:Bitner 2011:21467170}"	"proband\'s brother, family MOL0632"	"M"	"no"	"Israel"	""	"0"	""	""	"Jewish"	"IV:4"
"00403818"	""	""	""	"1"	""	"00000"	"{PMID:Wittstrom 2011:21473666}"	"father of proband"	""	"no"	"Sweden"	""	"0"	""	""	""	""
"00403819"	""	""	""	"1"	""	"00000"	"{PMID:Wittstrom 2011:21473666}"	"proband\'s sister"	"F"	""	"Sweden"	""	"0"	""	""	""	""
"00403820"	""	""	""	"1"	""	"00000"	"{PMID:Wittstrom 2011:21473666}"	"proband"	"F"	""	"Sweden"	""	"0"	""	""	""	""
"00403821"	""	""	""	"1"	""	"00000"	"{PMID:Wittstrom 2011:21473666}"	"proband\'s son"	"M"	""	"Sweden"	""	"0"	""	""	""	""
"00403823"	""	""	""	"1"	""	"00000"	"{PMID:Pineiro-Gallego 2011:21738390}"	"family S, female sibling"	"F"	""	"Spain"	""	"0"	""	""	""	"S-II:1"
"00403824"	""	""	""	"1"	""	"00000"	"{PMID:Pineiro-Gallego 2011:21738390}"	"family S, male sibling"	"M"	""	"Spain"	""	"0"	""	""	""	"S-II:2"
"00403825"	""	""	""	"1"	""	"00000"	"{PMID:Pineiro-Gallego 2011:21738390}"	"family DII, individual III:8; III:7 and other members of this family were described in {PMID:Schatz 2010:20375334}"	"F"	""	"Denmark"	""	"0"	""	""	""	"DII-III:8"
"00404051"	""	""	""	"1"	""	"00000"	"{PMID:MacDonald 2011:21809908}"	""	"F"	""	""	""	"0"	""	""	"white"	"Case I"
"00404052"	""	""	""	"1"	""	"00000"	"{PMID:MacDonald 2011:21809908}"	""	"F"	""	""	""	"0"	""	""	"asian (Philippines)"	"Case II"
"00404053"	""	""	""	"1"	""	"00000"	"{PMID:MacDonald 2011:21809908}"	"family 1, proband"	"F"	""	""	""	"0"	""	""	""	"Case III"
"00404054"	""	""	""	"1"	""	"00000"	"{PMID:MacDonald 2011:21809908}"	"family 1, proband\'s sister"	"F"	""	""	""	"0"	""	""	""	"Case IV"
"00404055"	""	""	""	"1"	""	"00000"	"{PMID:MacDonald 2011:21809908}"	"family 1, proband\'s father"	"M"	""	""	""	"0"	""	""	""	"I:1"
"00404056"	""	""	""	"1"	""	"00000"	"{PMID:MacDonald 2011:21809908}"	"family 1, proband\'s mother"	"F"	""	""	""	"0"	""	""	""	"I:2"
"00404057"	""	""	""	"1"	""	"00000"	"{PMID:MacDonald 2011:21809908}"	"family 1, proband\'s brother"	"M"	""	""	""	"0"	""	""	""	"II:1"
"00404068"	""	""	""	"1"	""	"00000"	"{PMID:Borman 2011:21825197}"	""	"F"	""	""	""	"0"	""	""	""	"1"
"00404069"	""	""	""	"1"	""	"00000"	"{PMID:Borman 2011:21825197}"	""	"F"	""	""	""	"0"	""	""	""	"2"
"00404070"	""	""	""	"1"	""	"00000"	"{PMID:Borman 2011:21825197}"	""	"M"	""	""	""	"0"	""	""	""	"3"
"00404071"	""	""	""	"1"	""	"00000"	"{PMID:Borman 2011:21825197}"	""	"M"	""	""	""	"0"	""	""	""	"4"
"00404072"	""	""	""	"1"	""	"00000"	"{PMID:Borman 2011:21825197}"	"Family 5, proband"	"M"	""	""	""	"0"	""	""	""	"5"
"00404073"	""	""	""	"1"	""	"00000"	"{PMID:Borman 2011:21825197}"	"Family 5, proband\'s brother"	"M"	""	""	""	"0"	""	""	""	"6"
"00404091"	""	""	""	"1"	""	"00000"	"{PMID:Low 2011:21921978}"	"Proband 1"	"F"	"no"	"United Kingdom (Great Britain)"	""	"0"	""	""	"English"	"Proband 1"
"00404092"	""	""	""	"1"	""	"00000"	"{PMID:Low 2011:21921978}"	"Affected sister of proband 1"	"M"	"no"	"United Kingdom (Great Britain)"	""	"0"	""	""	"English"	"II:1"
"00404093"	""	""	""	"1"	""	"00000"	"{PMID:Low 2011:21921978}"	"Affected brother of proband 1"	"F"	"no"	"United Kingdom (Great Britain)"	""	"0"	""	""	"English"	"II:3"
"00404094"	""	""	""	"1"	""	"00000"	"{PMID:Low 2011:21921978}"	"Proband 2"	"F"	"no"	"United Kingdom (Great Britain)"	""	"0"	""	""	"English"	"Proband 2"
"00404125"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2011:22162627}"	"Family A, proband"	"F"	""	"Italy"	""	"0"	""	""	""	"A-3"
"00404126"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2011:22162627}"	"Family B, proband"	"F"	""	"Italy"	""	"0"	""	""	""	"B-3"
"00404127"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2011:22162627}"	"Family C, proband"	"M"	""	"Italy"	""	"0"	""	""	""	"C-3"
"00404128"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2011:22162627}"	"Family C, proband\'s sister"	"F"	""	"Italy"	""	"0"	""	""	""	"C-4"
"00404129"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2011:22162627}"	"Family D, proband"	"F"	""	"Italy"	""	"0"	""	""	""	"D-4"
"00404271"	""	""	""	"1"	""	"00000"	"{PMID:Kousal 2011:22448417}"	""	"M"	""	"Czech Republic"	""	"0"	""	""	""	"?"
"00404272"	""	""	""	"1"	""	"00000"	"{PMID:Kay 2012:22084158}"	"no patient numbers, consecutive numbers given"	"?"	""	"United States"	""	"0"	""	""	""	"1"
"00404273"	""	""	""	"1"	""	"00000"	"{PMID:Kay 2012:22084158}"	"no patient numbers, consecutive numbers given"	"?"	""	"United States"	""	"0"	""	""	""	"2"
"00404274"	""	""	""	"1"	""	"00000"	"{PMID:Kay 2012:22084158}"	"no patient numbers, consecutive numbers given"	"?"	""	"United States"	""	"0"	""	""	""	"3"
"00404275"	""	""	""	"1"	""	"00000"	"{PMID:Kay 2012:22084158}"	"no patient numbers, consecutive numbers given"	"?"	""	"United States"	""	"0"	""	""	""	"4"
"00404276"	""	""	""	"1"	""	"00000"	"{PMID:Kay 2012:22084158}"	"no patient numbers, consecutive numbers given"	"?"	""	"United States"	""	"0"	""	""	""	"5"
"00404277"	""	""	""	"1"	""	"00000"	"{PMID:Kay 2012:22084158}"	"no patient numbers, consecutive numbers given"	"?"	""	"United States"	""	"0"	""	""	""	"6"
"00404278"	""	""	""	"1"	""	"00000"	"{PMID:Kay 2012:22084158}"	"no patient numbers, consecutive numbers given"	"?"	""	"United States"	""	"0"	""	""	""	"7"
"00404279"	""	""	""	"1"	""	"00000"	"{PMID:Kay 2012:22084158}"	"no patient numbers, consecutive numbers given"	"?"	""	"United States"	""	"0"	""	""	""	"8"
"00404280"	""	""	""	"1"	""	"00000"	"{PMID:Kay 2012:22084158}"	"no patient numbers, consecutive numbers given"	"?"	""	"United States"	""	"0"	""	""	""	"9"
"00404281"	""	""	""	"1"	""	"00000"	"{PMID:Kay 2012:22084158}"	"no patient numbers, consecutive numbers given"	"?"	""	"United States"	""	"0"	""	""	""	"10"
"00404282"	""	""	""	"1"	""	"00000"	"{PMID:Kay 2012:22084158}"	"no patient numbers, consecutive numbers given"	"?"	""	"United States"	""	"0"	""	""	""	"11"
"00404283"	""	""	""	"1"	""	"00000"	"{PMID:Kay 2012:22084158}"	"no patient numbers, consecutive numbers given"	"?"	""	"United States"	""	"0"	""	""	""	"12"
"00404284"	""	""	""	"1"	""	"00000"	"{PMID:Kay 2012:22084158}"	"no patient numbers, consecutive numbers given"	"?"	""	"United States"	""	"0"	""	""	""	"13"
"00404285"	""	""	""	"1"	""	"00000"	"{PMID:Kay 2012:22084158}"	"no patient numbers, consecutive numbers given"	"?"	""	"United States"	""	"0"	""	""	""	"14"
"00404286"	""	""	""	"1"	""	"00000"	"{PMID:Kay 2012:22084158}"	"no patient numbers, consecutive numbers given"	"?"	""	"United States"	""	"0"	""	""	""	"15"
"00404288"	""	""	""	"1"	""	"00000"	"{PMID:Pomares 2012:22199244}"	""	""	""	"United States"	""	"0"	""	""	""	"48"
"00404289"	""	""	""	"1"	""	"00000"	"{PMID:Pomares 2012:22199244}"	""	""	""	"United States"	""	"0"	""	""	""	"64"
"00404290"	""	""	""	"1"	""	"00000"	"{PMID:Zhao 2012:22422030}"	"proband"	"F"	""	""	""	"0"	""	""	""	"Child 1"
"00404291"	""	""	""	"1"	""	"00000"	"{PMID:Zhao 2012:22422030}"	"proband\'s brother"	"M"	""	""	""	"0"	""	""	""	"Child 3"
"00404292"	""	""	""	"1"	""	"00000"	"{PMID:Zhao 2012:22422030}"	"proband\'s sister"	"F"	""	""	""	"0"	""	""	""	"Child 4"
"00404293"	""	""	""	"1"	""	"00000"	"{PMID:Cascavilla 2012:22584882}"	""	"F"	""	""	""	"0"	""	""	"white"	"?"
"00404294"	""	""	""	"1"	""	"00000"	"{PMID:Bitner 2012:22633354}"	"family VMD200014"	""	""	""	""	"0"	""	""	""	"VMD200014"
"00404295"	""	""	""	"1"	""	"00000"	"{PMID:Bitner 2012:22633354}"	"family VMD200022"	""	""	""	""	"0"	""	""	""	"VMD200022"
"00404296"	""	""	""	"1"	""	"00000"	"{PMID:Bitner 2012:22633354}"	"family VMD200034"	""	""	""	""	"0"	""	""	""	"VMD200034"
"00404297"	""	""	""	"1"	""	"00000"	"{PMID:Bitner 2012:22633354}"	"family VMD200035, individual 78502"	""	""	""	""	"0"	""	""	""	"78502"
"00404298"	""	""	""	"1"	""	"00000"	"{PMID:Bitner 2012:22633354}"	"family VMD200035, individual 78503"	""	""	""	""	"0"	""	""	""	"78503"
"00404299"	""	""	""	"1"	""	"00000"	"{PMID:Bitner 2012:22633354}"	"family VMD200038"	""	""	""	""	"0"	""	""	""	"VMD200038"
"00404300"	""	""	""	"1"	""	"00000"	"{PMID:Bitner 2012:22633354}"	"family VMD20101"	""	""	""	""	"0"	""	""	""	"VMD20101"
"00404301"	""	""	""	"1"	""	"00000"	"{PMID:Bitner 2012:22633354}"	"family VMD20102, individual 76968"	""	""	""	""	"0"	""	""	""	"76968"
"00404302"	""	""	""	"1"	""	"00000"	"{PMID:Bitner 2012:22633354}"	"family VMD20105, individual 76970"	""	""	""	""	"0"	""	""	""	"76970"
"00404303"	""	""	""	"1"	""	"00000"	"{PMID:Bitner 2012:22633354}"	"family VMD20106, individual 76971"	""	""	""	""	"0"	""	""	""	"76971"
"00404304"	""	""	""	"1"	""	"00000"	"{PMID:Bitner 2012:22633354}"	"family VMD20107, individual 76972"	""	""	""	""	"0"	""	""	""	"76972"
"00404305"	""	""	""	"1"	""	"00000"	"{PMID:Bitner 2012:22633354}"	"family VMD20107, individual 76972.1, son of 76972"	""	""	""	""	"0"	""	""	""	"76972.1"
"00404306"	""	""	""	"1"	""	"00000"	"{PMID:Bitner 2012:22633354}"	"family VMD20108"	""	""	""	""	"0"	""	""	""	"VMD20108"
"00404307"	""	""	""	"1"	""	"00000"	"{PMID:Bitner 2012:22633354}"	"family VMD20109, individual 76973"	""	""	""	""	"0"	""	""	""	"76973"
"00404308"	""	""	""	"1"	""	"00000"	"{PMID:Bitner 2012:22633354}"	"family VMD20110, individual 76976"	""	""	""	""	"0"	""	""	""	"76976"
"00404309"	""	""	""	"1"	""	"00000"	"{PMID:Bitner 2012:22633354}"	"family VMD20112"	""	""	""	""	"0"	""	""	""	"VMD20112"
"00404310"	""	""	""	"1"	""	"00000"	"{PMID:Bitner 2012:22633354}"	"family VMD24003"	""	""	""	""	"0"	""	""	""	"VMD24003"
"00404311"	""	""	""	"1"	""	"00000"	"{PMID:Bitner 2012:22633354}"	"family VMD24004, individual 56691"	""	""	""	""	"0"	""	""	""	"56691"
"00404333"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2015:26201355}"	"Family A, individual I-1 - father of proband"	"M"	""	"Japan"	""	"0"	""	""	"Asian"	"A.I-1"
"00404334"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2015:26201355}"	"Family A, individual I-2 - mother of proband"	"F"	""	"Japan"	""	"0"	""	""	"Asian"	"A.I-2"
"00404335"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2015:26201355}"	"Family A, individual II-1 - proband"	"M"	""	"Japan"	""	"0"	""	""	"Asian"	"A.II-1"
"00404336"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2015:26201355}"	"Family B, individual I-1 - proband"	"M"	""	"Japan"	""	"0"	""	""	"Asian"	"B.I-1"
"00404337"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2015:26201355}"	"Family C, individual II-3 - proband"	"M"	""	"Japan"	""	"0"	""	""	"Asian"	"C.II-3"
"00404338"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2015:26201355}"	"Family D, individual I-1 - father of proband"	"M"	""	"Japan"	""	"0"	""	""	"Asian"	"D.I-1"
"00404339"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2015:26201355}"	"Family D, individual II-1 - proband"	"M"	""	"Japan"	""	"0"	""	""	"Asian"	"D.II-1"
"00404340"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2015:26201355}"	"Family E, individual I-1 - father of proband"	"M"	""	"Japan"	""	"0"	""	""	"Asian"	"E.I-1"
"00404341"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2015:26201355}"	"Family E, individual II-1 - proband"	"F"	""	"Japan"	""	"0"	""	""	"Asian"	"E.II-1"
"00404342"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2015:26201355}"	"Family F, individual I-1 - proband"	"M"	""	"Japan"	""	"0"	""	""	"Asian"	"F.I-1"
"00404343"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2015:26201355}"	"Family G, individual II-2 - proband"	"M"	""	"Japan"	""	"0"	""	""	"Asian"	"G.II-2"
"00404344"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2015:26201355}"	"Family H, individual II-2 - proband"	"F"	""	"Japan"	""	"0"	""	""	"Asian"	"H.II-2"
"00404345"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2015:26201355}"	"Family I, individual II-3 - proband"	"M"	""	"Japan"	""	"0"	""	""	"Asian"	"I.II-3"
"00404346"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2015:26201355}"	"Family J, individual I-2 - proband"	"F"	""	"Japan"	""	"0"	""	""	"Asian"	"J.I-2"
"00404347"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2015:26201355}"	"Family K, individual II-1 - proband"	"M"	""	"Japan"	""	"0"	""	""	"Asian"	"K.II-1"
"00404348"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2015:26201355}"	"Family L, individual I-1 - father of proband"	"M"	""	"Japan"	""	"0"	""	""	"Asian"	"L.I-1"
"00404349"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2015:26201355}"	"Family L, individual II-2 - proband"	"F"	""	"Japan"	""	"0"	""	""	"Asian"	"L.II-2"
"00404350"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2015:26201355}"	"Family M, individual I-2 - mother of proband"	"F"	""	"Japan"	""	"0"	""	""	"Asian"	"M.I-2"
"00404351"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2015:26201355}"	"Family M, individual II-2 - proband"	"F"	""	"Japan"	""	"0"	""	""	"Asian"	"M.II-2"
"00404354"	""	""	""	"1"	""	"00000"	"{PMID:Wivestad-Jansson 2016:26333019}"	"Family A, individual II-1"	"F"	""	""	""	"0"	""	""	""	"A.II-1"
"00404355"	""	""	""	"1"	""	"00000"	"{PMID:Wivestad-Jansson 2016:26333019}"	"Family A, individual II-2"	"F"	""	""	""	"0"	""	""	""	"A.II-2"
"00404356"	""	""	""	"1"	""	"00000"	"{PMID:Wivestad-Jansson 2016:26333019}"	"Family B, individual II-1"	"F"	""	""	""	"0"	""	""	""	"B.II-1"
"00404357"	""	""	""	"1"	""	"00000"	"{PMID:Wivestad-Jansson 2016:26333019}"	"Family C, individual II-2"	"M"	""	""	""	"0"	""	""	""	"C.II-2"
"00404450"	""	""	""	"1"	""	"00000"	"{PMID:Preising 2012:23096145}"	"Family A, individual III:2"	"M"	""	"Germany"	""	"0"	""	""	""	"A-III:2"
"00404451"	""	""	""	"1"	""	"00000"	"{PMID:Preising 2012:23096145}"	"Family B, individual II:1"	"M"	""	"Germany"	""	"0"	""	""	""	"B-II:1"
"00404452"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2012:23213274}"	"family A, individual II-3"	"F"	""	"Italy"	""	"0"	""	""	""	"II-3"
"00404453"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2012:23213274}"	"family A, individual I-2"	"F"	""	"Italy"	""	"0"	""	""	""	"I-2"
"00404454"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2012:23213274}"	"family G, individual I-3"	"M"	""	"Italy"	""	"0"	""	""	""	"I-3"
"00404455"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2012:23213274}"	"family I, individual I-1"	"M"	""	"Italy"	""	"0"	""	""	""	"I-1"
"00404456"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2012:23213274}"	"family H, individual I-1"	"M"	""	"Italy"	""	"0"	""	""	""	"I-1"
"00404457"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2012:23213274}"	"family D, individual II-1"	"M"	""	"Italy"	""	"0"	""	""	""	"II-1"
"00404458"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2012:23213274}"	"family C, individual II-1"	"M"	""	"Italy"	""	"0"	""	"photodynamic therapy"	""	"II-1"
"00404459"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2012:23213274}"	"family J, individual III-1"	"F"	""	"Italy"	""	"0"	""	"photodynamic therapy"	""	"III-1"
"00404460"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2012:23213274}"	"family K, individual I-2"	"F"	""	"Italy"	""	"0"	""	"photodynamic therapy and intravitreal bevacizumab"	""	"I-2"
"00404461"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2012:23213274}"	"family K, individual II-1"	"M"	""	"Italy"	""	"0"	""	"photodynamic therapy"	""	"II-1"
"00404462"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2012:23213274}"	"family A, individual III-3"	"F"	""	"Italy"	""	"0"	""	""	""	"III-3"
"00404463"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2012:23213274}"	"family A, individual II-4"	"F"	""	"Italy"	""	"0"	""	""	""	"II-4"
"00404464"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2012:23213274}"	"family A, individual III-4"	"M"	""	"Italy"	""	"0"	""	""	""	"III-4"
"00404465"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2012:23213274}"	"family A, individual III-1"	"M"	""	"Italy"	""	"0"	""	""	""	"III-1"
"00404466"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2012:23213274}"	"family B, individual II-1"	"M"	""	"Italy"	""	"0"	""	""	""	"II-1"
"00404467"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2012:23213274}"	"family B, individual I-1"	"M"	""	"Italy"	""	"0"	""	""	""	"I-1"
"00404468"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2012:23213274}"	"family C, individual I-1"	"M"	""	"Italy"	""	"0"	""	""	""	"I-1"
"00404469"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2012:23213274}"	"family D, individual I-2"	"F"	""	"Italy"	""	"0"	""	""	""	"I-2"
"00404470"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2012:23213274}"	"family E, individual I-1"	"M"	""	"Italy"	""	"0"	""	""	""	"I-1"
"00404471"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2012:23213274}"	"family E, individual II-1"	"M"	""	"Italy"	""	"0"	""	""	""	"II-1"
"00404472"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2012:23213274}"	"family F, individual II-1"	"F"	""	"Italy"	""	"0"	""	""	""	"II-1"
"00404473"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2012:23213274}"	"family G, individual I-2"	"M"	""	"Italy"	""	"0"	""	""	""	"I-2"
"00404474"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2012:23213274}"	"family G, individual II-1"	"M"	""	"Italy"	""	"0"	""	""	""	"II-1"
"00404475"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2012:23213274}"	"family G, individual II-2"	"F"	""	"Italy"	""	"0"	""	""	""	"II-2"
"00404476"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2012:23213274}"	"family H, individual II-1"	"M"	""	"Italy"	""	"0"	""	""	""	"II-1"
"00404477"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2012:23213274}"	"family H, individual II-2"	"F"	""	"Italy"	""	"0"	""	""	""	"II-2"
"00404478"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2012:23213274}"	"family I, individual II-1"	"M"	""	"Italy"	""	"0"	""	""	""	"II-1"
"00404479"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2012:23213274}"	"family J, individual II-2"	"M"	""	"Italy"	""	"0"	""	""	""	"II-2"
"00404480"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2012:23213274}"	"family J, individual II-3"	"M"	""	"Italy"	""	"0"	""	""	""	"II-3"
"00404481"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2012:23213274}"	"family J, individual I-1"	"M"	""	"Italy"	""	"0"	""	""	""	"I-1"
"00404482"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2012:23213274}"	"family L, individual II-1"	"M"	""	"Italy"	""	"0"	""	""	""	"II-1"
"00404483"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2012:23213274}"	"family M, individual II-1"	"F"	""	"Italy"	""	"0"	""	""	""	"II-1"
"00404484"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2012:23213274}"	"family N, individual III-1"	"M"	""	"Italy"	""	"0"	""	""	""	"III-1"
"00404485"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2012:23213274}"	"family N, individual II-3"	"M"	""	"Italy"	""	"0"	""	""	""	"II-3"
"00404486"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2012:23213274}"	"family O, individual II-1"	"F"	""	"Italy"	""	"0"	""	""	""	"II-1"
"00404487"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2012:23213274}"	"family P, individual II-1"	"F"	""	"Italy"	""	"0"	""	""	""	"II-1"
"00404488"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2012:23213274}"	"family Q, individual I-2"	"F"	""	"Italy"	""	"0"	""	""	""	"I-2"
"00404489"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2012:23213274}"	"family R, individual II-1"	"F"	""	"Italy"	""	"0"	""	""	""	"II-1"
"00404490"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2012:23213274}"	"family S, individual II-1"	"M"	""	"Italy"	""	"0"	""	""	""	"II-1"
"00404491"	""	""	""	"1"	""	"00000"	"{PMID:Silva 2013:23572118}, {PMID:Fung 2013:24337562}"	"proband"	"F"	""	"United States"	""	"0"	""	""	"Jamaican"	"II-2"
"00404492"	""	""	""	"1"	""	"00000"	"{PMID:Silva 2013:23572118}, {PMID:Fung 2013:24337562}"	"proband\'s older brother"	"M"	""	"United States"	""	"0"	""	""	"Jamaican"	"II-1"
"00404549"	""	""	""	"1"	""	"00000"	"{PMID:Boon 2013:23290749}"	"Family 1, individual 1 (proband)"	"M"	""	"Netherlands"	""	"0"	""	""	""	"1"
"00404550"	""	""	""	"1"	""	"00000"	"{PMID:Boon 2013:23290749}"	"Family 1, individual 2 (proband\'s sibling)"	"F"	""	"Netherlands"	""	"0"	""	""	""	"2"
"00404551"	""	""	""	"1"	""	"00000"	"{PMID:Boon 2013:23290749}"	"Family 1, individual 3 (proband\'s sibling)"	"F"	""	"Netherlands"	""	"0"	""	""	""	"3"
"00404552"	""	""	""	"1"	""	"00000"	"{PMID:Boon 2013:23290749}"	"Family 1, individual 4 (proband\'s sibling)"	"F"	""	"Netherlands"	""	"0"	""	""	""	"4"
"00404553"	""	""	""	"1"	""	"00000"	"{PMID:Boon 2013:23290749}"	""	"F"	""	"Netherlands"	""	"0"	""	""	""	"5"
"00404554"	""	""	""	"1"	""	"00000"	"{PMID:Boon 2013:23290749}"	""	"F"	""	"Netherlands"	""	"0"	""	""	""	"6"
"00404555"	""	""	""	"1"	""	"00000"	"{PMID:Boon 2013:23290749}"	""	"M"	""	"Netherlands"	""	"0"	""	""	""	"7"
"00404556"	""	""	""	"1"	""	"00000"	"{PMID:Boon 2013:23290749}"	""	"F"	""	"Netherlands"	""	"0"	""	""	""	"8"
"00404557"	""	""	""	"1"	""	"00000"	"{PMID:Boon 2013:23290749}"	""	"M"	""	"Netherlands"	""	"0"	""	""	""	"9"
"00404558"	""	""	""	"1"	""	"00000"	"{PMID:Boon 2013:23290749}"	""	"F"	""	"Netherlands"	""	"0"	""	""	""	"10"
"00404559"	""	""	""	"1"	""	"00000"	"{PMID:Sheng 2013:23823511}"	"Family 1, individual II:5 (proband\'s sister 2)"	"F"	"yes"	"China"	""	"0"	""	""	""	"1"
"00404560"	""	""	""	"1"	""	"00000"	"{PMID:Sheng 2013:23823511}"	"Family 1, individual II:6 (proband\'s brother 2)"	"M"	"yes"	"China"	""	"0"	""	""	""	"1"
"00404561"	""	""	""	"1"	""	"00000"	"{PMID:Sheng 2013:23823511}"	"Family 1, individual II:12 (proband\'s sister 4)"	"F"	"yes"	"China"	""	"0"	""	""	""	"1"
"00404562"	""	""	""	"1"	""	"00000"	"{PMID:Sheng 2013:23823511}"	"Family 1, individual II:13 (proband)"	"M"	"yes"	"China"	""	"0"	""	""	""	"1"
"00404563"	""	""	""	"1"	""	"00000"	"{PMID:Sheng 2013:23823511}"	"Family 1, individual III:1 (from first-degree cousins marriage)"	"M"	"yes"	"China"	""	"0"	""	""	""	"1"
"00404720"	""	""	""	"1"	""	"00000"	"{PMID:Frennesson 2014:23617333}"	"Family 1, individual III:2 (proband)"	"M"	""	"Sweden"	""	"0"	""	"photodynamic therapy: verteporfin (6 mg⁄ m2 BS) infused intravenously and followed by diode laser (689 nm, 600 mW⁄ cm2 and 50 J ⁄ cm2) application for 83s, 3 times at 12-week intervals"	""	"1"
"00404721"	""	""	""	"1"	""	"00000"	"{PMID:Frennesson 2014:23617333}"	"Family 1, individual III:1 (proband\'s sister)"	"F"	""	"Sweden"	""	"0"	""	""	""	"1"
"00404722"	""	""	""	"1"	""	"00000"	"{PMID:Frennesson 2014:23617333}"	"Family 1, individual II:1 (proband\'s father)"	"M"	""	"Sweden"	""	"0"	""	""	""	"1"
"00404723"	""	""	""	"1"	""	"00000"	"{PMID:Frennesson 2014:23617333}"	"Family 1, individual I:1 (proband\'s grandfather)"	"M"	""	"Sweden"	""	"0"	""	""	""	"1"
"00404725"	""	""	""	"1"	""	"00000"	"{PMID:Sharon 2014:24345323}"	"Family 1, individual I:1 (proband\'s mother)"	"F"	""	"Denmark"	""	"0"	""	""	""	"I:1"
"00404726"	""	""	""	"1"	""	"00000"	"{PMID:Sharon 2014:24345323}"	"Family 1, individual I:2 (proband\'s father)"	"M"	""	"Denmark"	""	"0"	""	""	""	"I:2"
"00404727"	""	""	""	"1"	""	"00000"	"{PMID:Sharon 2014:24345323}"	"Family 1, individual II:1 (proband\'s sister)"	"F"	""	"Denmark"	""	"0"	""	""	""	"II:1"
"00404728"	""	""	""	"1"	""	"00000"	"{PMID:Sharon 2014:24345323}"	"Family 1, individual II:3 (proband)"	"M"	""	"Denmark"	""	"0"	""	""	""	"II:3"
"00404730"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	"family A, individual II:1"	"M"	""	"China"	""	"0"	""	""	""	"A_II:1"
"00404731"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	"family B, individual II:1"	"M"	""	"China"	""	"0"	""	""	""	"B_II:1"
"00404732"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	"family C, individual I:1"	"M"	""	"China"	""	"0"	""	""	""	"C_I:1"
"00404733"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	"family C, individual II:1"	"F"	""	"China"	""	"0"	""	""	""	"C_II:1"
"00404734"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	"family D, individual II:1"	"M"	""	"China"	""	"0"	""	""	""	"D_II:1"
"00404735"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	"family E, individual II:1"	"F"	""	"China"	""	"0"	""	""	""	"E_II:1"
"00404736"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	"family F, individual III:1"	"M"	""	"China"	""	"0"	""	""	""	"F_III:1"
"00404737"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	"family G, individual II:1"	"M"	""	"China"	""	"0"	""	""	""	"G_II:1"
"00404738"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	"family H, individual II:1"	"M"	""	"China"	""	"0"	""	""	""	"H_II:1"
"00404739"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	"family I, individual II:1"	"M"	""	"China"	""	"0"	""	""	""	"I_II:1"
"00404740"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	"family J, individual II:2"	"F"	""	"China"	""	"0"	""	""	""	"J_II:2"
"00404741"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	"family K, individual II:2"	"M"	""	"China"	""	"0"	""	""	""	"K_II:2"
"00404742"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	"family L, individual II:1"	"M"	""	"China"	""	"0"	""	""	""	"L_II:1"
"00404749"	""	""	""	"1"	""	"00000"	"{PMID:Duncker 2014:24526438}"	"family I, individual 1"	"F"	""	""	""	"0"	""	""	"White"	"I_1"
"00404750"	""	""	""	"1"	""	"00000"	"{PMID:Duncker 2014:24526438}"	"family II, individual 2"	"M"	""	""	""	"0"	""	""	"White"	"II_2"
"00404751"	""	""	""	"1"	""	"00000"	"{PMID:Duncker 2014:24526438}"	"family II, individual 3"	"M"	""	""	""	"0"	""	""	"White"	"II_3"
"00404752"	""	""	""	"1"	""	"00000"	"{PMID:Duncker 2014:24526438}"	"family III, individual 4"	"F"	""	""	""	"0"	""	""	"White"	"III_4"
"00404753"	""	""	""	"1"	""	"00000"	"{PMID:Duncker 2014:24526438}"	"family IV, individual 5"	"F"	""	""	""	"0"	""	""	"White"	"IV_5"
"00404754"	""	""	""	"1"	""	"00000"	"{PMID:Duncker 2014:24526438}"	"family V, individual 6"	"M"	""	""	""	"0"	""	""	"Hispanic"	"V_6"
"00404755"	""	""	""	"1"	""	"00000"	"{PMID:Duncker 2014:24526438}"	"family VI, individual 7"	"F"	""	""	""	"0"	""	""	"Black"	"VI_7"
"00404756"	""	""	""	"1"	""	"00000"	"{PMID:Duncker 2014:24526438}"	"family VII, individual 8"	"M"	""	""	""	"0"	""	""	"Hispanic"	"VII_8"
"00404757"	""	""	""	"1"	""	"00000"	"{PMID:Duncker 2014:24526438}"	"family IX, individual 11"	"M"	""	""	""	"0"	""	""	"White"	"IX_11"
"00404758"	""	""	""	"1"	""	"00000"	"{PMID:Duncker 2014:24526438}"	"family IX, individual 12"	"M"	""	""	""	"0"	""	""	"White"	"IX_12"
"00404759"	""	""	""	"1"	""	"00000"	"{PMID:Duncker 2014:24526438}"	"family X, individual 13"	"F"	""	""	""	"0"	""	""	"Hispanic"	"X_13"
"00404760"	""	""	""	"1"	""	"00000"	"{PMID:Duncker 2014:24526438}"	"family X, individual 14"	"M"	""	""	""	"0"	""	""	"Hispanic"	"X_14"
"00404761"	""	""	""	"1"	""	"00000"	"{PMID:Duncker 2014:24526438}"	"family X, individual 15"	"F"	""	""	""	"0"	""	""	"Hispanic"	"X_15"
"00404762"	""	""	""	"1"	""	"00000"	"{PMID:Duncker 2014:24526438}"	"family XI, individual 16"	"M"	""	""	""	"0"	""	""	"White"	"XI_16"
"00404763"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2014:24791142}"	"family 1, individual: Case1"	"F"	""	"France"	""	"0"	""	""	""	"1_Case1"
"00404764"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2014:24791142}"	"family 1, individual: Case2"	"F"	""	"France"	""	"0"	""	""	""	"1_Case2"
"00404765"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2014:24791142}"	"family 2, individual: Case3"	"M"	""	"France"	""	"0"	""	""	""	"2_Case3"
"00404766"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2014:24791142}"	"family 2, individual: Case4"	"M"	""	"France"	""	"0"	""	""	""	"2_Case4"
"00404767"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2014:24791142}"	"family 3, individual: Case5"	"M"	""	"France"	""	"0"	""	""	""	"3_Case5"
"00404768"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2014:24791142}"	"family 3, individual: Case6"	"F"	""	"France"	""	"0"	""	""	""	"3_Case6"
"00404769"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2014:24791142}"	"family 3, individual: Case7"	"M"	""	"France"	""	"0"	""	""	""	"3_Case7"
"00404770"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2014:24791142}"	"family 4, individual: Case8"	"M"	""	"France"	""	"0"	""	""	""	"4_Case8"
"00404771"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2014:24791142}"	"family 4, individual: Case9"	"F"	""	"France"	""	"0"	""	""	""	"4_Case9"
"00404772"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2014:24791142}"	"family 5, individual: Case10"	"F"	""	"France"	""	"0"	""	""	""	"5_Case10"
"00404773"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2014:24791142}"	"family 5, individual: Case11"	"F"	""	"France"	""	"0"	""	""	""	"5_Case11"
"00404774"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2014:24791142}"	"family 5, individual: Case12"	"M"	""	"France"	""	"0"	""	""	""	"5_Case12"
"00404775"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2014:24791142}"	"family 6, individual: Case13"	"M"	""	"France"	""	"0"	""	""	""	"6_Case13"
"00404776"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2014:24791142}"	"family 6, individual: Case14"	"M"	""	"France"	""	"0"	""	""	""	"6_Case14"
"00404777"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2014:24791142}"	"family 6, individual: Case15"	"M"	""	"France"	""	"0"	""	""	""	"6_Case15"
"00404778"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2014:24791142}"	"family 6, individual: Case16"	"F"	""	"France"	""	"0"	""	""	""	"6_Case16"
"00404779"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2014:24791142}"	"family 7, individual: Case17"	"F"	""	"France"	""	"0"	""	""	""	"7_Case17"
"00404780"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2014:24791142}"	"family 7, individual: Case18"	"M"	""	"France"	""	"0"	""	""	""	"7_Case18"
"00404781"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2014:24791142}"	"family 7, individual: Case19"	"F"	""	"France"	""	"0"	""	""	""	"7_Case19"
"00404782"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2014:24791142}"	"family 8, individual: Case20"	"F"	""	"France"	""	"0"	""	""	""	"8_Case20"
"00404783"	""	""	""	"1"	""	"00000"	"{PMID:Querques 2014:24791142}"	"family 8, individual: Case21"	"F"	""	"France"	""	"0"	""	""	""	"8_Case21"
"00404784"	""	""	""	"1"	""	"00000"	"{PMID:Crowley 2014:24859690}"	""	"M"	""	""	""	"0"	""	"Oral acetazolamide 500 mg twice a day"	""	"1"
"00404788"	""	""	""	"1"	""	"00000"	"{PMID:Parodi 2014:25174897}"	""	"M"	""	""	""	"0"	""	""	""	"1"
"00404789"	""	""	""	"1"	""	"00000"	"{PMID:Parodi 2014:25174897}"	""	"F"	""	""	""	"0"	""	""	""	"2"
"00404790"	""	""	""	"1"	""	"00000"	"{PMID:Parodi 2014:25174897}"	""	"M"	""	""	""	"0"	""	""	""	"3"
"00404791"	""	""	""	"1"	""	"00000"	"{PMID:Parodi 2014:25174897}"	""	"M"	""	""	""	"0"	""	""	""	"4"
"00404792"	""	""	""	"1"	""	"00000"	"{PMID:Parodi 2014:25174897}"	""	"F"	""	""	""	"0"	""	""	""	"5"
"00404793"	""	""	""	"1"	""	"00000"	"{PMID:Parodi 2014:25174897}"	""	"F"	""	""	""	"0"	""	""	""	"6"
"00404795"	""	""	""	"1"	""	"00000"	"{PMID:Hussain 2015:25265375}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	"3 injections of intravitreal bevacizumab 1.25 mg/0.05 ml under general anaesthetic to the left eye over 3 months"	""	"II:2"
"00404810"	""	""	""	"1"	""	"00000"	"{PMID:Fung 2015:25545482}"	"family 1, individual 1, proband"	"M"	""	""	""	"0"	""	""	"white"	"1"
"00404811"	""	""	""	"1"	""	"00000"	"{PMID:Fung 2015:25545482}"	"family 1, individual 2, proband\'s brother"	"M"	""	""	""	"0"	""	""	"white"	"2"
"00404812"	""	""	""	"1"	""	"00000"	"{PMID:Fung 2015:25545482}"	"family 2, individual 3, proband"	"M"	"yes"	""	""	"0"	""	""	"black"	"3"
"00404813"	""	""	""	"1"	""	"00000"	"{PMID:Fung 2015:25545482}"	"family 3, individual 4, proband"	"M"	""	""	""	"0"	""	""	"Puerto Rico"	"4"
"00404814"	""	""	""	"1"	""	"00000"	"{PMID:Fung 2015:25545482}"	"family 4, individual 5, proband"	"F"	"yes"	""	""	"0"	""	""	""	"5"
"00404836"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2015:25675349}"	""	"M"	""	"Italy"	""	"0"	""	"photodynamic therapy"	""	"1"
"00404837"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2015:25675349}"	""	"M"	""	"Italy"	""	"0"	""	"photodynamic therapy"	""	"2"
"00404838"	""	""	""	"1"	""	"00000"	"{PMID:Sodi 2015:25675349}"	""	"F"	""	"Italy"	""	"0"	""	"photodynamic therapy"	""	"3"
"00404839"	""	""	""	"1"	""	"00000"	"{PMID:Lin 2015:25936525}"	"Family 1, individual II:1"	"M"	""	"China"	""	"0"	""	"photodynamic therapy"	""	"Case 1"
"00404840"	""	""	""	"1"	""	"00000"	"{PMID:Lin 2015:25936525}"	"Family 2"	"M"	""	"China"	""	"0"	""	"photodynamic therapy"	""	"Case 2"
"00404841"	""	""	""	"1"	""	"00000"	"{PMID:Matson 2015:26099059}"	"Family 1, individual II:1"	"M"	""	"United States"	""	"0"	""	""	"black"	"Case 1"
"00404842"	""	""	""	"1"	""	"00000"	"{PMID:Johnson 2015:26200502}"	""	"F"	""	"United States"	""	"0"	""	""	""	"?"
"00404843"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2016:26418331}"	""	"M"	""	""	""	"0"	""	"intravitreous injection of 0.5 mg ranibizumab in the right eye"	"white"	"?"
"00404844"	""	""	""	"1"	""	"00000"	"{PMID:Toto 2016:26716959}"	"proband"	"F"	""	""	""	"0"	""	""	"white"	"III:7"
"00404845"	""	""	""	"1"	""	"00000"	"{PMID:Toto 2016:26716959}"	"proband\'s daughter"	"F"	""	""	""	"0"	""	""	"white"	"IV:3"
"00404846"	""	""	""	"1"	""	"00000"	"{PMID:Toto 2016:26716959}"	"proband\'s son"	"M"	""	""	""	"0"	""	""	"white"	"IV:2"
"00404847"	""	""	""	"1"	""	"00000"	"{PMID:Lee 2015:26720466}"	"proband"	"M"	""	"Korea, South (Republic)"	""	"0"	""	""	""	"II:5"
"00404848"	""	""	""	"1"	""	"00000"	"{PMID:Lee 2015:26720466}"	"proband"	"F"	""	"Korea, South (Republic)"	""	"0"	""	""	""	"II:8"
"00404849"	""	""	""	"1"	""	"00000"	"{PMID:Kellner 2016:26771239}"	"proband"	"M"	""	""	""	"0"	""	"flurbiprofen and dorzolamide"	""	"II:4"
"00404850"	""	""	""	"1"	""	"00000"	"{PMID:Kellner 2016:26771239}"	"proband\'s son"	"F"	""	""	""	"0"	""	""	""	"III:2"
"00404851"	""	""	""	"1"	""	"00000"	"{PMID:Kellner 2016:26771239}"	"proband\'s granddaughter"	"F"	""	""	""	"0"	""	""	""	"IV:1"
"00404866"	""	""	""	"2"	""	"00000"	"{PMID:Peiretti 2016:26807628}"	"Family 1, individual III:2, daughter of II:3"	"F"	""	"Italy"	""	"0"	""	""	""	"CA#1"
"00404867"	""	""	""	"3"	""	"00000"	"{PMID:Peiretti 2016:26807628}"	"Family 1, individual III:1, son of II:3"	"M"	""	"Italy"	""	"0"	""	""	""	"CA#2"
"00404868"	""	""	""	"4"	""	"00000"	"{PMID:Peiretti 2016:26807628}"	"Family 1, individual II:3"	"M"	""	"Italy"	""	"0"	""	""	""	"CA#3"
"00404869"	""	""	""	"5"	""	"00000"	"{PMID:Peiretti 2016:26807628}"	"Family 1, individual II:2, brother2  of II:3"	"M"	""	"Italy"	""	"0"	""	""	""	"CA#4"
"00404870"	""	""	""	"6"	""	"00000"	"{PMID:Peiretti 2016:26807628}"	"Family 1, individual II:1, brother1  of II:3"	"M"	""	"Italy"	""	"0"	""	""	""	"CA#5"
"00404889"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2016:26849243}"	"proband"	"M"	""	""	""	"0"	""	"laser photocoagulation; oral prednisone 60 mg daily; triamcinolone 20 mg injection; triamcinolone 4 mg"	""	"?"
"00404890"	""	""	""	"1"	""	"00000"	"{PMID:Liu 2016:27078032}"	"family A, individual II:2"	"M"	""	"China"	""	"0"	""	""	""	"A_II:2"
"00404891"	""	""	""	"1"	""	"00000"	"{PMID:Liu 2016:27078032}"	"family A, individual III:1"	"M"	""	"China"	""	"0"	""	""	""	"A_III:1"
"00404892"	""	""	""	"1"	""	"00000"	"{PMID:Liu 2016:27078032}"	"family B, individual I:1"	"M"	""	"China"	""	"0"	""	""	""	"B_I:1"
"00404893"	""	""	""	"1"	""	"00000"	"{PMID:Liu 2016:27078032}"	"family B, individual II:1"	"M"	""	"China"	""	"0"	""	""	""	"B_II:1"
"00404894"	""	""	""	"1"	""	"00000"	"{PMID:Liu 2016:27078032}"	"family C, individual I:1"	"F"	""	"China"	""	"0"	""	""	""	"C_I:1"
"00404895"	""	""	""	"1"	""	"00000"	"{PMID:Liu 2016:27078032}"	"family C, individual II:1"	"M"	""	"China"	""	"0"	""	""	""	"C_II:1"
"00404896"	""	""	""	"1"	""	"00000"	"{PMID:Liu 2016:27078032}"	"family D, individual II:1"	"M"	""	"China"	""	"0"	""	""	""	"D_II:1"
"00404897"	""	""	""	"1"	""	"00000"	"{PMID:Liu 2016:27078032}"	"family E, individual II:1"	"M"	""	"China"	""	"0"	""	""	""	"E_II:1"
"00404898"	""	""	""	"1"	""	"00000"	"{PMID:Liu 2016:27078032}"	"family F, individual II:1"	"M"	""	"China"	""	"0"	""	""	""	"F_II:1"
"00404899"	""	""	""	"1"	""	"00000"	"{PMID:Kubota 2016:27071392}"	""	"M"	"no"	"Japan"	""	"0"	""	""	"Asian"	"?"
"00404939"	""	""	""	"1"	""	"00000"	"{PMID:Nakanishi 2016:27163236}"	"family I, individual B1"	"F"	""	"Japan"	""	"0"	""	""	"Asian"	"3840_NA1050"
"00404940"	""	""	""	"1"	""	"00000"	"{PMID:Nakanishi 2016:27163236}"	"family I, individual B1"	"M"	""	"Japan"	""	"0"	""	""	"Asian"	"3840_NA0050"
"00404941"	""	""	""	"1"	""	"00000"	"{PMID:Nakanishi 2016:27163236}"	"family II, individual B1"	"M"	""	"Japan"	""	"0"	""	""	"Asian"	"3840_JU0209"
"00404942"	""	""	""	"1"	""	"00000"	"{PMID:Nakanishi 2016:27163236}"	"family III, individual B1"	"M"	""	"Japan"	""	"0"	""	""	"Asian"	"3840_NA1044"
"00404943"	""	""	""	"1"	""	"00000"	"{PMID:Nakanishi 2016:27163236}"	"family III, individual B1"	"F"	""	"Japan"	""	"0"	""	""	"Asian"	"3840_NA0044"
"00404944"	""	""	""	"1"	""	"00000"	"{PMID:Nakanishi 2016:27163236}"	"family IV, individual B1"	"F"	""	"Japan"	""	"0"	""	""	"Asian"	"3840_NA0062"
"00404945"	""	""	""	"1"	""	"00000"	"{PMID:Nakanishi 2016:27163236}"	"family V, individual B1"	"F"	""	"Japan"	""	"0"	""	""	"Asian"	"3840_JU0773"
"00404946"	""	""	""	"1"	""	"00000"	"{PMID:Nakanishi 2016:27163236}"	"family VI, individual B1"	"M"	""	"Japan"	""	"0"	""	""	"Asian"	"3840_JU0645"
"00404947"	""	""	""	"1"	""	"00000"	"{PMID:Nakanishi 2016:27163236}"	"family VII, individual B1"	"F"	""	"Japan"	""	"0"	""	""	"Asian"	"3840_KA160"
"00404948"	""	""	""	"1"	""	"00000"	"{PMID:Glavak 2016:27775230}"	"Family M, individual II:4"	"M"	""	""	""	"0"	""	""	""	"II:4"
"00404949"	""	""	""	"1"	""	"00000"	"{PMID:Glavak 2016:27775230}"	"Family M, individual III:2"	"M"	""	""	""	"0"	""	""	""	"III:2"
"00404950"	""	""	""	"1"	""	"00000"	"{PMID:Glavak 2016:27775230}"	"Family M, individual III:3"	"M"	""	""	""	"0"	""	""	""	"III:3"
"00404951"	""	""	""	"1"	""	"00000"	"{PMID:Glavak 2016:27775230}"	"Family K, individual III:2"	"F"	""	""	""	"0"	""	""	""	"III:2"
"00404952"	""	""	""	"1"	""	"00000"	"{PMID:Glavak 2016:27775230}"	"Family K, individual III:10"	"F"	""	""	""	"0"	""	""	""	"III:10"
"00404953"	""	""	""	"1"	""	"00000"	"{PMID:Glavak 2016:27775230}"	"Family K, individual IV:1"	"M"	""	""	""	"0"	""	""	""	"IV:1"
"00404954"	""	""	""	"1"	""	"00000"	"{PMID:Glavak 2016:27775230}"	"Family K, individual IV:4"	"F"	""	""	""	"0"	""	""	""	"IV:4"
"00404955"	""	""	""	"1"	""	"00000"	"{PMID:Glavak 2016:27775230}"	"Family K, individual IV:13"	"M"	""	""	""	"0"	""	""	""	"IV:13"
"00404956"	""	""	""	"1"	""	"00000"	"{PMID:Glavak 2016:27775230}"	"Family K, individual V:2"	"M"	""	""	""	"0"	""	""	""	"V:2"
"00404957"	""	""	""	"1"	""	"00000"	"{PMID:Glavak 2016:27775230}"	"Family K, individual V:3"	"F"	""	""	""	"0"	""	""	""	"V:3"
"00404958"	""	""	""	"1"	""	"00000"	"{PMID:Glavak 2016:27775230}"	"Family K, individual V:4"	"M"	""	""	""	"0"	""	""	""	"V:4"
"00404959"	""	""	""	"1"	""	"00000"	"{PMID:Glavak 2016:27775230}"	"Family ST, individual I:2"	"F"	""	""	""	"0"	""	""	""	"I:2"
"00404960"	""	""	""	"1"	""	"00000"	"{PMID:Glavak 2016:27775230}"	"Family ST, individual II:1"	"M"	""	""	""	"0"	""	""	""	"II:1"
"00404961"	""	""	""	"1"	""	"00000"	"{PMID:Glavak 2016:27775230}"	"Family ST, individual II:4"	"F"	""	""	""	"0"	""	""	""	"II:4"
"00404962"	""	""	""	"1"	""	"00000"	"{PMID:Glavak 2016:27775230}"	"Family ST, individual III:3"	"F"	""	""	""	"0"	""	""	""	"III:3"
"00404963"	""	""	""	"1"	""	"00000"	"{PMID:Glavak 2016:27775230}"	"Family ST, individual III:4"	"F"	""	""	""	"0"	""	""	""	"III:4"
"00404964"	""	""	""	"1"	""	"00000"	"{PMID:Glavak 2016:27775230}"	"Family ST, individual IV:1"	"M"	""	""	""	"0"	""	""	""	"IV:1"
"00404965"	""	""	""	"1"	""	"00000"	"{PMID:Glavak 2016:27775230}"	"Family S, individual II:1"	"M"	""	""	""	"0"	""	""	""	"II:1"
"00404966"	""	""	""	"1"	""	"00000"	"{PMID:Glavak 2016:27775230}"	"Family S, individual III:1"	"M"	""	""	""	"0"	""	""	""	"III:1"
"00404967"	""	""	""	"1"	""	"00000"	"{PMID:Glavak 2016:27775230}"	"Patient B, individual I:1"	"M"	""	""	""	"0"	""	""	""	"I:1"
"00404990"	""	""	""	"2"	""	"00000"	"{PMID:Arora 2016:27287821}"	"parental presentation: mother carrier state, unilateral"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"1"
"00404991"	""	""	""	"3"	""	"00000"	"{PMID:Arora 2016:27287821}"	"mother of Case 1, parental presentation: mother (grandmother of case1) with bilateral macular dystrophy"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"2"
"00404992"	""	""	""	"4"	""	"00000"	"{PMID:Arora 2016:27287821}"	"parental presentation: father with known best disease, bilateral"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"3"
"00404993"	""	""	""	"5"	""	"00000"	"{PMID:Arora 2016:27287821}"	"parental presentation: father carrier state, bilateral"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"4"
"00404994"	""	""	""	"6"	""	"00000"	"{PMID:Arora 2016:27287821}"	"parental presentation: mother and sister affected, although family members not examined"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"5"
"00404995"	""	""	""	"1"	""	"00000"	"{PMID:Gottwalt 2017:27503085}"	""	"F"	""	"Germany"	""	"0"	""	""	""	"1"
"00404998"	""	""	""	"1"	""	"00000"	"{PMID:Schonbach 2017:27548040}"	""	"F"	""	"United States"	""	"0"	""	""	"white"	"?"
"00404999"	""	""	""	"1"	""	"00000"	"{PMID:Zhong 2017:28056057}"	""	""	""	"China"	""	"0"	""	""	"Asian"	"1"
"00405000"	""	""	""	"1"	""	"00000"	"{PMID:Zhong 2017:28056057}"	""	""	""	"China"	""	"0"	""	""	"Asian"	"2"
"00405001"	""	""	""	"1"	""	"00000"	"{PMID:Zhong 2017:28056057}"	""	""	""	"China"	""	"0"	""	""	"Asian"	"3"
"00405002"	""	""	""	"1"	""	"00000"	"{PMID:Zhong 2017:28056057}"	""	""	""	"China"	""	"0"	""	""	"Asian"	"4"
"00405003"	""	""	""	"1"	""	"00000"	"{PMID:Zhong 2017:28056057}"	""	""	""	"China"	""	"0"	""	""	"Asian"	"5"
"00405004"	""	""	""	"1"	""	"00000"	"{PMID:Zhong 2017:28056057}"	""	""	""	"China"	""	"0"	""	""	"Asian"	"6"
"00405005"	""	""	""	"1"	""	"00000"	"{PMID:Zhong 2017:28056057}"	""	""	""	"China"	""	"0"	""	""	"Asian"	"7"
"00405006"	""	""	""	"1"	""	"00000"	"{PMID:Zhong 2017:28056057}"	""	""	""	"China"	""	"0"	""	""	"Asian"	"8"
"00405010"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2018:28225368}"	""	""	""	""	""	"0"	""	""	""	"1a (GC31650)"
"00405011"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2018:28225368}"	""	""	""	""	""	"0"	""	""	""	"1b (GC28880)"
"00405012"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2018:28225368}"	""	""	""	""	""	"0"	""	""	""	"2a (GC31925)"
"00405013"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2018:28225368}"	""	""	""	""	""	"0"	""	""	""	"2b (GC32406)"
"00405014"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2018:28225368}"	""	""	""	""	""	"0"	""	""	""	"3 (GC22319)"
"00405015"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2018:28225368}"	""	""	""	""	""	"0"	""	""	""	"4 (GC31312)"
"00405016"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2018:28225368}"	""	""	""	""	""	"0"	""	""	""	"5 (GC30444)"
"00405017"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2018:28225368}"	""	""	""	""	""	"0"	""	""	""	"6 (GC33133)"
"00405018"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2018:28225368}"	""	""	""	""	""	"0"	""	""	""	"1 (GC6299)"
"00405019"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2018:28225368}"	""	""	""	""	""	"0"	""	""	""	"2 (GC30824)"
"00405020"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2018:28225368}"	""	""	""	""	""	"0"	""	""	""	"3 (GC30818)"
"00405021"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2018:28225368}"	""	""	""	""	""	"0"	""	""	""	"4 (GC31575)"
"00405022"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2018:28225368}"	""	""	""	""	""	"0"	""	""	""	"5 (GC31279)"
"00405023"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2018:28225368}"	""	""	""	""	""	"0"	""	""	""	"6 (GC31629)"
"00405024"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2018:28225368}"	""	""	""	""	""	"0"	""	""	""	"7 (GC28551)"
"00405025"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2017:27764019}"	""	""	""	""	""	"0"	""	""	""	"1"
"00405026"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2017:27764019}"	""	""	""	""	""	"0"	""	""	""	"2"
"00405027"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2017:27764019}"	""	""	""	""	""	"0"	""	""	""	"4"
"00405028"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2017:27764019}"	""	""	""	""	""	"0"	""	""	""	"7"
"00405029"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2017:27764019}"	""	""	""	""	""	"0"	""	""	""	"8"
"00405030"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2017:27764019}"	""	""	""	""	""	"0"	""	""	""	"9"
"00405031"	""	""	""	"1"	""	"00000"	"{PMID:Hardin 2017:28481155}"	"proband"	"F"	"yes"	"United States"	""	"0"	""	""	"Middle East"	"II.7"
"00405032"	""	""	""	"1"	""	"00000"	"{PMID:Hardin 2017:28481155}"	"proband\'s son"	"M"	"yes"	"United States"	""	"0"	""	""	"Middle East"	"III.3"
"00405033"	""	""	""	"1"	""	"00000"	"{PMID:Hardin 2017:28481155}"	"proband\'s granddaughter (daughter of III:2)"	"F"	"yes"	"United States"	""	"0"	""	""	"Middle East"	"IV.2"
"00405034"	""	""	""	"1"	""	"00000"	"{PMID:Hardin 2017:28481155}"	"proband\'s grandson (son of III:3)"	"M"	"yes"	"United States"	""	"0"	""	""	"Middle East"	"IV.4"
"00405038"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	""	"M"	""	"China"	""	"0"	""	""	""	"010121"
"00405039"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	""	"M"	""	"China"	""	"0"	""	""	""	"010150"
"00405040"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	""	"F"	""	"China"	""	"0"	""	""	""	"010158"
"00405041"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	""	"M"	""	"China"	""	"0"	""	""	""	"010212"
"00405042"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	""	"M"	""	"China"	""	"0"	""	""	""	"010324"
"00405043"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	""	"M"	""	"China"	""	"0"	""	""	""	"010361"
"00405044"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	""	"F"	""	"China"	""	"0"	""	""	""	"010362"
"00405045"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	""	"M"	""	"China"	""	"0"	""	""	""	"010368"
"00405046"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	""	"M"	""	"China"	""	"0"	""	""	""	"010378"
"00405047"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	""	"M"	""	"China"	""	"0"	""	""	""	"010379"
"00405048"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	""	"M"	""	"China"	""	"0"	""	""	""	"010388"
"00405049"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	""	"M"	""	"China"	""	"0"	""	""	""	"010389"
"00405050"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	""	"M"	""	"China"	""	"0"	""	""	""	"010411"
"00405051"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	""	"M"	""	"China"	""	"0"	""	""	""	"010312"
"00405052"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	""	"M"	""	"China"	""	"0"	""	""	""	"010356"
"00405053"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	""	"M"	""	"China"	""	"0"	""	""	""	"010424"
"00405054"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	""	"M"	""	"China"	""	"0"	""	""	""	"010053"
"00405055"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	""	"M"	""	"China"	""	"0"	""	""	""	"010238"
"00405056"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	""	"M"	""	"China"	""	"0"	""	""	""	"010255"
"00405057"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	""	"M"	""	"China"	""	"0"	""	""	""	"010286"
"00405058"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	""	"M"	""	"China"	""	"0"	""	""	""	"010289"
"00405059"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	""	"M"	""	"China"	""	"0"	""	""	""	"010292"
"00405060"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	""	"F"	""	"China"	""	"0"	""	""	""	"010303"
"00405061"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	""	"F"	""	"China"	""	"0"	""	""	""	"010357"
"00405062"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	""	"M"	""	"China"	""	"0"	""	""	""	"113340"
"00405063"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	""	"M"	""	"China"	""	"0"	""	""	""	"113400"
"00405064"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	""	"F"	""	"China"	""	"0"	""	""	""	"010399"
"00405065"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	""	"M"	""	"China"	""	"0"	""	""	""	"010397"
"00405066"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	""	"F"	""	"China"	""	"0"	""	""	""	"10413"
"00405067"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	""	"M"	""	"China"	""	"0"	""	""	""	"010413-1"
"00405068"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	""	"F"	""	"China"	""	"0"	""	""	""	"010229"
"00405069"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	""	"M"	""	"China"	""	"0"	""	""	""	"010387"
"00405070"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	""	"M"	""	"China"	""	"0"	""	""	""	"10392"
"00405071"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	""	"M"	""	"China"	""	"0"	""	""	""	"113360"
"00405072"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	""	"M"	""	"China"	""	"0"	""	""	""	"010408"
"00405073"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2014:25489231}"	""	"F"	""	"China"	""	"0"	""	""	""	"010416"
"00405074"	""	""	""	"1"	""	"00000"	"{PMID:Lin 2017:28791410}"	""	"M"	""	"China"	""	"0"	""	""	""	"?"
"00405075"	""	""	""	"1"	""	"00000"	"{PMID:Gattoussi 2020:28806213}"	""	"F"	""	""	""	"0"	""	""	""	"?"
"00405076"	""	""	""	"1"	""	"00000"	"{PMID:Jun 2017:28831140}"	""	"M"	""	""	""	"0"	""	""	""	"?"
"00405077"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2018:28590961}"	""	""	""	""	""	"0"	""	""	""	"Patient 1"
"00405078"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2018:28590961}"	""	""	""	""	""	"0"	""	""	""	"Patient 2"
"00405079"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2018:28590961}"	""	""	""	""	""	"0"	""	""	""	"Patient 3"
"00405080"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2018:28590961}"	""	""	""	""	""	"0"	""	""	""	"Patient 4"
"00405081"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2018:28590961}"	""	""	""	""	""	"0"	""	""	""	"Patient 5"
"00405084"	""	""	""	"1"	""	"00000"	"{PMID:Lin 2018:29115605}"	""	"M"	""	""	""	"0"	""	""	""	"Patient 1"
"00405085"	""	""	""	"1"	""	"00000"	"{PMID:Lin 2018:29115605}"	""	"F"	""	""	""	"0"	""	""	""	"Patient 2"
"00405087"	""	""	""	"1"	""	"00000"	"{PMID:Dalvin 2016:29503890}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	"Denmark"	""	"0"	""	""	""	"patient"
"00405088"	""	""	""	"1"	""	"00000"	"{PMID:Goldberg 2018:29774302}"	"post-mortem eye analysis and history"	"M"	""	""	""	"0"	""	""	""	"?"
"00405100"	""	""	""	"1"	""	"00000"	"{PMID:Guo 2018:29781975}"	"Family A, individual II:1"	"F"	""	"China"	""	"0"	""	""	""	"A_II:1"
"00405101"	""	""	""	"1"	""	"00000"	"{PMID:Guo 2018:29781975}"	"Family B, individual II:1"	"M"	""	"China"	""	"0"	""	""	""	"B_II:1"
"00405102"	""	""	""	"1"	""	"00000"	"{PMID:Guo 2018:29781975}"	"Family C, individual II:1"	"M"	""	"China"	""	"0"	""	""	""	"C_II:1"
"00405103"	""	""	""	"1"	""	"00000"	"{PMID:Guo 2018:29781975}"	"Family C, individual I:1"	"M"	""	"China"	""	"0"	""	""	""	"C_I:1"
"00405104"	""	""	""	"1"	""	"00000"	"{PMID:Guo 2018:29781975}"	"Family D, individual II:1"	"M"	""	"China"	""	"0"	""	""	""	"D_II:1"
"00405105"	""	""	""	"1"	""	"00000"	"{PMID:Guo 2018:29781975}"	"Family E, individual III:3"	"F"	""	"China"	""	"0"	""	""	""	"E_III:3"
"00405106"	""	""	""	"1"	""	"00000"	"{PMID:Guo 2018:29781975}"	"Family E, individual II:3"	"F"	""	"China"	""	"0"	""	""	""	"E_II:3"
"00405107"	""	""	""	"1"	""	"00000"	"{PMID:Guo 2018:29781975}"	"Family E, individual II:5"	"F"	""	"China"	""	"0"	""	""	""	"E_II:5"
"00405108"	""	""	""	"1"	""	"00000"	"{PMID:Guo 2018:29781975}"	"Family E, individual III:1"	"F"	""	"China"	""	"0"	""	""	""	"E_III:1"
"00405109"	""	""	""	"1"	""	"00000"	"{PMID:Guo 2018:29781975}"	"Family E, individual IV:1"	"F"	""	"China"	""	"0"	""	""	""	"E_IV:1"
"00405110"	""	""	""	"1"	""	"00000"	"{PMID:Guo 2018:29781975}"	"Family F, individual II:1"	"M"	""	"China"	""	"0"	""	""	""	"F_II:1"
"00405111"	""	""	""	"1"	""	"00000"	"{PMID:Guo 2018:29781975}"	"Family G, individual II:1"	"F"	""	"China"	""	"0"	""	""	""	"G_II:1"
"00405112"	""	""	""	"1"	""	"00000"	"{PMID:Guo 2018:29781975}"	"Family H, individual II:1"	"F"	""	"China"	""	"0"	""	""	""	"H_II:1"
"00405113"	""	""	""	"1"	""	"00000"	"{PMID:Guo 2018:29781975}"	"Family K, individual II:1"	"M"	""	"China"	""	"0"	""	""	""	"K_II:1"
"00405114"	""	""	""	"1"	""	"00000"	"{PMID:Guo 2018:29781975}"	"Family K, individual II:1"	"M"	""	"China"	""	"0"	""	""	""	"K_II:1"
"00405115"	""	""	""	"1"	""	"00000"	"{PMID:Guo 2018:29781975}"	"Family L, individual II:1"	"M"	""	"China"	""	"0"	""	""	""	"L_II:1"
"00405116"	""	""	""	"1"	""	"00000"	"{PMID:Gutiérrez-Montero 2018:29853419"	"father of 2; no numbering, consecutive numbers given"	"M"	""	"Spain"	""	"0"	""	""	""	"1"
"00405117"	""	""	""	"1"	""	"00000"	"{PMID:Gutiérrez-Montero 2018:29853419"	"son of 1; no numbering, consecutive numbers given"	"M"	""	"Spain"	""	"0"	""	""	""	"2"
"00405176"	""	""	""	"1"	""	"00000"	"{PMID:Nguyen 2018:29976937}"	"family A, proband (II.1)"	"M"	""	"India"	""	"0"	""	""	""	"A_II.1"
"00405177"	""	""	""	"1"	""	"00000"	"{PMID:Nguyen 2018:29976937}"	"family A, sibling (II.2)"	"M"	""	"India"	""	"0"	""	""	""	"A_II.2"
"00405178"	""	""	""	"1"	""	"00000"	"{PMID:Nguyen 2018:29976937}"	"family B, proband (II.1)"	"M"	""	"India"	""	"0"	""	""	""	"B_II.1"
"00405179"	""	""	""	"1"	""	"00000"	"{PMID:Nguyen 2018:29976937}"	"family C, proband (II.3)"	"F"	""	"India"	""	"0"	""	""	""	"C_II.3"
"00405180"	""	""	""	"1"	""	"00000"	"{PMID:Nguyen 2018:29976937}"	"family C, sibling (II.1)"	"M"	""	"India"	""	"0"	""	""	""	"C_II.1"
"00405181"	""	""	""	"1"	""	"00000"	"{PMID:Nguyen 2018:29976937}"	"family C, sibling (II.4)"	"M"	""	"India"	""	"0"	""	""	""	"C_II.4"
"00405182"	""	""	""	"1"	""	"00000"	"{PMID:Nguyen 2018:29976937}"	"family C, sibling (II.3)"	"F"	""	"India"	""	"0"	""	""	""	"C_II.3"
"00405183"	""	""	""	"1"	""	"00000"	"{PMID:Nguyen 2018:29976937}"	"family D, proband (II.1)"	"M"	""	"India"	""	"0"	""	""	""	"D_II.1"
"00405184"	""	""	""	"1"	""	"00000"	"{PMID:Nguyen 2018:29976937}"	"family D, father (I.1)"	"M"	""	"India"	""	"0"	""	""	""	"D_I.1"
"00405185"	""	""	""	"1"	""	"00000"	"{PMID:Nguyen 2018:29976937}"	"family D, sibling (II.2)"	"F"	""	"India"	""	"0"	""	""	""	"D_II.2"
"00405186"	""	""	""	"1"	""	"00000"	"{PMID:Mano 2018:30222024}, {PMID:Weisschuh 2019:30632872}"	"Weisschuh (2019) doubts that this case is solved with BEST1 variant"	"F"	""	""	""	"0"	""	""	""	"?"
"00405272"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2018:30498755}"	""	""	""	"China"	""	"0"	""	""	""	"1"
"00405273"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2018:30498755}"	""	""	""	"China"	""	"0"	""	""	""	"2"
"00405274"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2018:30498755}"	""	""	""	"China"	""	"0"	""	""	""	"3"
"00405275"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2018:30498755}"	""	""	""	"China"	""	"0"	""	""	""	"4"
"00405276"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2018:30498755}"	""	""	""	"China"	""	"0"	""	""	""	"5"
"00405277"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2018:30498755}"	""	""	""	"China"	""	"0"	""	""	""	"6"
"00405278"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2018:30498755}"	""	""	""	"China"	""	"0"	""	""	""	"7"
"00405279"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2018:30498755}"	""	""	""	"China"	""	"0"	""	""	""	"8"
"00405280"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2018:30498755}"	""	""	""	"China"	""	"0"	""	""	""	"9"
"00405281"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2018:30498755}"	""	""	""	"China"	""	"0"	""	""	""	"10"
"00405282"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2018:30498755}"	""	""	""	"China"	""	"0"	""	""	""	"11"
"00405283"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2018:30498755}"	""	""	""	"China"	""	"0"	""	""	""	"12"
"00405284"	""	""	""	"1"	""	"00000"	"{PMID:Taylor 2018:30582078}"	""	""	""	"United States"	""	"0"	""	""	""	"1"
"00405285"	""	""	""	"1"	""	"00000"	"{PMID:Luo 2018:30593719}"	"Family 1, proband"	"F"	""	"China"	""	"0"	""	""	""	"1,II:1"
"00405286"	""	""	""	"1"	""	"00000"	"{PMID:Luo 2018:30593719}"	"Family 1, sister of proband"	"F"	""	"China"	""	"0"	""	""	""	"1,II:2"
"00405287"	""	""	""	"1"	""	"00000"	"{PMID:Luo 2018:30593719}"	""	"F"	""	"China"	""	"0"	""	""	""	"2,II:3"
"00405288"	""	""	""	"1"	""	"00000"	"{PMID:Luo 2018:30593719}"	""	"M"	""	"China"	""	"0"	""	""	""	"3,II:1"
"00405289"	""	""	""	"1"	""	"00000"	"{PMID:Luo 2018:30593719}"	""	"F"	""	"China"	""	"0"	""	""	""	"4,II:2"
"00405290"	""	""	""	"1"	""	"00000"	"{PMID:Luo 2018:30593719}"	""	"F"	""	"China"	""	"0"	""	""	""	"5,II:3"
"00405291"	""	""	""	"1"	""	"00000"	"{PMID:Luo 2018:30593719}"	""	"M"	""	"China"	""	"0"	""	""	""	"6,II:1"
"00405292"	""	""	""	"1"	""	"00000"	"{PMID:Luo 2018:30593719}"	""	"F"	""	"China"	""	"0"	""	""	""	"7,II:1"
"00405293"	""	""	""	"1"	""	"00000"	"{PMID:Luo 2018:30593719}"	""	"F"	""	"China"	""	"0"	""	""	""	"8,II:1"
"00405294"	""	""	""	"1"	""	"00000"	"{PMID:Luo 2018:30593719}"	"Family 9, proband"	"M"	""	"China"	""	"0"	""	""	""	"9,II:4"
"00405295"	""	""	""	"1"	""	"00000"	"{PMID:Luo 2018:30593719}"	"Family 9, brother of proband"	"M"	""	"China"	""	"0"	""	""	""	"9,II:2"
"00405296"	""	""	""	"1"	""	"00000"	"{PMID:Luo 2018:30593719}"	""	"F"	""	"China"	""	"0"	""	""	""	"10,II:2"
"00405297"	""	""	""	"1"	""	"00000"	"{PMID:Luo 2018:30593719}"	""	"F"	""	"China"	""	"0"	""	""	""	"11,II:3"
"00405298"	""	""	""	"1"	""	"00000"	"{PMID:Luo 2018:30593719}"	""	"F"	""	"China"	""	"0"	""	""	""	"12,II:3"
"00405299"	""	""	""	"1"	""	"00000"	"{PMID:Luo 2018:30593719}"	"Family 13, proband"	"F"	""	"China"	""	"0"	""	""	""	"13,II:2"
"00405300"	""	""	""	"1"	""	"00000"	"{PMID:Luo 2018:30593719}"	"Family 13, sister of proband"	"F"	""	"China"	""	"0"	""	""	""	"13,II:1"
"00405301"	""	""	""	"1"	""	"00000"	"{PMID:Luo 2018:30593719}"	""	"M"	""	"China"	""	"0"	""	""	""	"14,II:1"
"00405302"	""	""	""	"1"	""	"00000"	"{PMID:Luo 2018:30593719}"	""	"M"	""	"China"	""	"0"	""	""	""	"15,II:5"
"00405303"	""	""	""	"1"	""	"00000"	"{PMID:Luo 2018:30593719}"	""	"M"	""	"China"	""	"0"	""	""	""	"16,II:1"
"00405306"	""	""	""	"1"	""	"00000"	"{PMID:Deak 2019:29215532}"	""	"F"	""	"Austria"	""	"0"	""	""	""	"3"
"00405307"	""	""	""	"1"	""	"00000"	"{PMID:Deak 2019:29215532}"	""	"M"	""	"Austria"	""	"0"	""	""	""	"4"
"00405308"	""	""	""	"1"	""	"00000"	"{PMID:Deak 2019:29215532}"	""	"M"	""	"Austria"	""	"0"	""	""	""	"5"
"00405309"	""	""	""	"1"	""	"00000"	"{PMID:Deak 2019:29215532}"	""	"M"	""	"Austria"	""	"0"	""	""	""	"6"
"00405310"	""	""	""	"1"	""	"00000"	"{PMID:Deak 2019:29215532}"	""	"F"	""	"Austria"	""	"0"	""	""	""	"7"
"00405311"	""	""	""	"1"	""	"00000"	"{PMID:Deak 2019:29215532}"	""	"M"	""	"Austria"	""	"0"	""	""	""	"9"
"00405312"	""	""	""	"1"	""	"00000"	"{PMID:Deak 2019:29215532}"	""	"M"	""	"Austria"	""	"0"	""	""	""	"10"
"00405313"	""	""	""	"1"	""	"00000"	"{PMID:Deak 2019:29215532}"	""	"M"	""	"Austria"	""	"0"	""	""	""	"12"
"00405314"	""	""	""	"1"	""	"00000"	"{PMID:Deak 2019:29215532}"	""	"M"	""	"Austria"	""	"0"	""	""	""	"13"
"00405315"	""	""	""	"1"	""	"00000"	"{PMID:Deak 2019:29215532}"	""	"M"	""	"Austria"	""	"0"	""	""	""	"14"
"00405316"	""	""	""	"1"	""	"00000"	"{PMID:Deak 2019:29215532}"	""	"F"	""	"Austria"	""	"0"	""	""	""	"15"
"00405317"	""	""	""	"1"	""	"00000"	"{PMID:Deak 2019:29215532}"	""	"M"	""	"Austria"	""	"0"	""	""	""	"17"
"00405318"	""	""	""	"1"	""	"00000"	"{PMID:Deak 2019:29215532}"	""	"F"	""	"Austria"	""	"0"	""	""	""	"18"
"00405319"	""	""	""	"1"	""	"00000"	"{PMID:Boulanger-Scemama 2019:29370033}"	"Family 2675, Patient 1"	"F"	""	"France"	""	"0"	""	""	""	"CIC05537, III-4"
"00405320"	""	""	""	"1"	""	"00000"	"{PMID:Boulanger-Scemama 2019:29370033}"	"Family 2675, Patient 2"	"F"	""	"France"	""	"0"	""	""	""	"CIC05272, III-7"
"00405321"	""	""	""	"1"	""	"00000"	"{PMID:Boulanger-Scemama 2019:29370033}"	"Family 614, Patient 3"	"F"	""	"France"	""	"0"	""	""	""	"CIC00989, III-3"
"00405322"	""	""	""	"1"	""	"00000"	"{PMID:Boulanger-Scemama 2019:29370033}"	"Family 4434, Patient 4"	"F"	""	"France"	""	"0"	""	""	""	"CIC07935, III-1"
"00405323"	""	""	""	"1"	""	"00000"	"{PMID:Boulanger-Scemama 2019:29370033}"	"Family 4434, Patient 5"	"F"	""	"France"	""	"0"	""	""	""	"CIC07936, III-2"
"00405325"	""	""	""	"1"	""	"00000"	"{PMID:de Souza 2019:30723549}"	"proband\'s brother; only III:2 sequenced, but affecetd members of the family are likely to carry the same mutation"	"M"	""	"Brazil"	""	"0"	""	""	""	"II-1"
"00405326"	""	""	""	"1"	""	"00000"	"{PMID:de Souza 2019:30723549}"	"proband\'s sister 1; only III:2 sequenced, but affecetd members of the family are likely to carry the same mutation"	"M"	""	"Brazil"	""	"0"	""	""	""	"II-2"
"00405327"	""	""	""	"1"	""	"00000"	"{PMID:de Souza 2019:30723549}"	"proband\'s sister 2; only III:2 sequenced, but affecetd members of the family are likely to carry the same mutation"	"F"	""	"Brazil"	""	"0"	""	""	""	"II-3"
"00405328"	""	""	""	"1"	""	"00000"	"{PMID:de Souza 2019:30723549}"	"proband\'s sister 3; only III:2 sequenced, but affecetd members of the family are likely to carry the same mutation"	"F"	""	"Brazil"	""	"0"	""	""	""	"II-5"
"00405329"	""	""	""	"1"	""	"00000"	"{PMID:de Souza 2019:30723549}"	"proband; only III:2 sequenced, but affecetd members of the family are likely to carry the same mutation"	"F"	""	"Brazil"	""	"0"	""	""	""	"II-7"
"00405330"	""	""	""	"1"	""	"00000"	"{PMID:de Souza 2019:30723549}"	"proband\'s sister 3\'s daughter; only III:2 sequenced, but affecetd members of the family are likely to carry the same mutation"	"F"	""	"Brazil"	""	"0"	""	""	""	"III-1"
"00405331"	""	""	""	"1"	""	"00000"	"{PMID:de Souza 2019:30723549}"	"proband\'s son; only this one sequenced, but affecetd members of the family are likely to carry the same mutation"	"M"	""	"Brazil"	""	"0"	""	""	""	"III-2"
"00405332"	""	""	""	"1"	""	"00000"	"{PMID:Introini 2018:30457648}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	"two monthly intravitreal injections of ranibizumab (Lucentis) (0.5 mg per 0.05 mL)"	""	"Case 1"
"00405334"	""	""	""	"1"	""	"00000"	"{PMID:Jaffal 2019:30781664}"	""	"F"	"yes"	"Lebanon"	""	"0"	""	""	""	"F1: III.2"
"00405335"	""	""	""	"1"	""	"00000"	"{PMID:Jaffal 2019:30781664}"	""	"M"	"no"	"Lebanon"	""	"0"	""	""	""	"F1: IV.1"
"00405336"	""	""	""	"1"	""	"00000"	"{PMID:Jaffal 2019:30781664}"	""	"M"	"no"	"Lebanon"	""	"0"	""	""	""	"F1: IV.3"
"00405337"	""	""	""	"1"	""	"00000"	"{PMID:Jaffal 2019:30781664}"	""	"F"	"yes"	"Lebanon"	""	"0"	""	""	""	"F2: IV.1"
"00405338"	""	""	""	"1"	""	"00000"	"{PMID:Jaffal 2019:30781664}"	""	"F"	"no"	"Lebanon"	""	"0"	""	""	""	"F34: II.1"
"00405339"	""	""	""	"1"	""	"00000"	"{PMID:Jaffal 2019:30781664}"	""	"F"	"no"	"Lebanon"	""	"0"	""	""	""	"F34: II.4"
"00405340"	""	""	""	"1"	""	"00000"	"{PMID:Al-Abri 2019:30787533}"	""	""	""	""	""	"0"	""	""	""	"?"
"00405341"	""	""	""	"1"	""	"00000"	"{PMID:Ji 2019:31836750}"	""	"F"	""	""	""	"0"	""	""	""	"1"
"00405342"	""	""	""	"1"	""	"00000"	"{PMID:Ji 2019:31836750}"	""	"M"	""	""	""	"0"	""	""	""	"2"
"00405343"	""	""	""	"1"	""	"00000"	"{PMID:Ji 2019:31836750}"	""	"M"	""	""	""	"0"	""	""	""	"3"
"00405344"	""	""	""	"1"	""	"00000"	"{PMID:Ji 2019:31836750}"	""	"F"	""	""	""	"0"	""	""	""	"4"
"00405345"	""	""	""	"1"	""	"00000"	"{PMID:Ji 2019:31836750}"	""	"M"	""	""	""	"0"	""	""	""	"5"
"00405346"	""	""	""	"1"	""	"00000"	"{PMID:Ji 2019:31836750}"	""	"M"	""	""	""	"0"	""	""	""	"6"
"00405347"	""	""	""	"1"	""	"00000"	"{PMID:Lima de Carvalho 2019:31070670}"	"Family I, individual 1"	"M"	""	"United States"	""	"0"	""	""	"white"	"1"
"00405348"	""	""	""	"1"	""	"00000"	"{PMID:Lima de Carvalho 2019:31070670}"	"Family II, individual 2"	"F"	""	"United States"	""	"0"	""	""	"white"	"2"
"00405349"	""	""	""	"1"	""	"00000"	"{PMID:Lima de Carvalho 2019:31070670}"	"Family III, individual 3"	"F"	""	"United States"	""	"0"	""	""	"black"	"3"
"00405350"	""	""	""	"1"	""	"00000"	"{PMID:Lima de Carvalho 2019:31070670}"	"Family IV, individual 4"	"M"	""	"United States"	""	"0"	""	""	"Hispanic"	"4"
"00405351"	""	""	""	"1"	""	"00000"	"{PMID:Lima de Carvalho 2019:31070670}"	"Family V, individual 5"	"M"	""	"United States"	""	"0"	""	""	"white"	"5"
"00405352"	""	""	""	"1"	""	"00000"	"{PMID:Lima de Carvalho 2019:31070670}"	"Family VI, individual 6"	"M"	""	"United States"	""	"0"	""	""	"white"	"6"
"00405353"	""	""	""	"1"	""	"00000"	"{PMID:Lima de Carvalho 2019:31070670}"	"Family VII, individual 7"	"M"	""	"United States"	""	"0"	""	""	"white"	"7"
"00405354"	""	""	""	"1"	""	"00000"	"{PMID:Lima de Carvalho 2019:31070670}"	"Family VII, individual 8"	"M"	""	"United States"	""	"0"	""	""	"white"	"8"
"00405355"	""	""	""	"1"	""	"00000"	"{PMID:Lima de Carvalho 2019:31070670}"	"Family VIII, individual 9"	"F"	""	"United States"	""	"0"	""	""	"white"	"9"
"00405356"	""	""	""	"1"	""	"00000"	"{PMID:Lima de Carvalho 2019:31070670}"	"Family IX, individual 10"	"M"	""	"United States"	""	"0"	""	""	"white"	"10"
"00405357"	""	""	""	"1"	""	"00000"	"{PMID:Lima de Carvalho 2019:31070670}"	"Family X, individual 11"	"M"	""	"United States"	""	"0"	""	""	"white"	"11"
"00405358"	""	""	""	"1"	""	"00000"	"{PMID:Lima de Carvalho 2019:31070670}"	"Family XI, individual 12"	"F"	""	"United States"	""	"0"	""	""	"Asian"	"12"
"00405359"	""	""	""	"1"	""	"00000"	"{PMID:Lima de Carvalho 2019:31070670}"	"Family XII, individual 13"	"M"	""	"United States"	""	"0"	""	""	"white"	"13"
"00405360"	""	""	""	"1"	""	"00000"	"{PMID:Lima de Carvalho 2019:31070670}"	"Family XIII, individual 14"	"M"	""	"United States"	""	"0"	""	""	"white"	"14"
"00405361"	""	""	""	"1"	""	"00000"	"{PMID:Chibani 2019:31254423}"	"Family 1, patient 1"	"M"	"yes"	"Tunisia"	""	"0"	""	""	""	"P1"
"00405362"	""	""	""	"1"	""	"00000"	"{PMID:Chibani 2019:31254423}"	"Family 1, patient 2"	"M"	"yes"	"Tunisia"	""	"0"	""	""	""	"P2"
"00405363"	""	""	""	"1"	""	"00000"	"{PMID:Chibani 2019:31254423}"	"Family 2, patient 1"	"F"	"yes"	"Tunisia"	""	"0"	""	""	""	"P3"
"00405386"	""	""	""	"1"	""	"00000"	"{PMID:Augstburger 2019:31465755}"	"family F3071, individual CIC05870, proband"	"?"	""	"France"	""	"0"	""	""	""	"F3071_CIC05870"
"00405387"	""	""	""	"1"	""	"00000"	"{PMID:Augstburger 2019:31465755}"	"family F1297, individual CIC03131, proband"	"?"	""	"France"	""	"0"	""	""	""	"F1297_CIC03131"
"00405388"	""	""	""	"1"	""	"00000"	"{PMID:Augstburger 2019:31465755}"	"family F2890, individual CIC05629, proband"	"?"	""	"France"	""	"0"	""	""	""	"F2890_CIC05629"
"00405389"	""	""	""	"1"	""	"00000"	"{PMID:Augstburger 2019:31465755}"	"family F906, individual CIC02589, proband"	"?"	""	"France"	""	"0"	""	""	""	"F906_CIC02589"
"00405390"	""	""	""	"1"	""	"00000"	"{PMID:Augstburger 2019:31465755}"	"family F813, individual CIC01342, proband"	"?"	""	"France"	""	"0"	""	""	""	"F813_CIC01342"
"00405391"	""	""	""	"1"	""	"00000"	"{PMID:Augstburger 2019:31465755}"	"family F813, individual CIC01345, affected daughter"	"?"	""	"France"	""	"0"	""	""	""	"F813_CIC01345"
"00405392"	""	""	""	"1"	""	"00000"	"{PMID:Augstburger 2019:31465755}"	"family F813, individual CIC01346, affected daughter"	"?"	""	"France"	""	"0"	""	""	""	"F813_CIC01346"
"00405393"	""	""	""	"1"	""	"00000"	"{PMID:Augstburger 2019:31465755}"	"family F813, individual CIC01347, affected son"	"?"	""	"France"	""	"0"	""	""	""	"F813_CIC01347"
"00405394"	""	""	""	"1"	""	"00000"	"{PMID:Augstburger 2019:31465755}"	"family F5162, individual CIC09050, proband"	"?"	""	"France"	""	"0"	""	""	""	"F5162_CIC09050"
"00405395"	""	""	""	"1"	""	"00000"	"{PMID:Augstburger 2019:31465755}"	"family F5773, individual CIC06290, proband"	"?"	""	"France"	""	"0"	""	""	""	"F5773_CIC06290"
"00405396"	""	""	""	"1"	""	"00000"	"{PMID:Augstburger 2019:31465755}"	"family F4530, individual CIC08116, proband"	"?"	""	"France"	""	"0"	""	""	""	"F4530_CIC08116"
"00405397"	""	""	""	"1"	""	"00000"	"{PMID:Augstburger 2019:31465755}"	"family F5241, individual CIC09169, proband"	"?"	""	"France"	""	"0"	""	""	""	"F5241_CIC09169"
"00405398"	""	""	""	"1"	""	"00000"	"{PMID:Augstburger 2019:31465755}"	"family F61, individual CIC00084, proband"	"?"	""	"France"	""	"0"	""	""	""	"F61_CIC00084"
"00405399"	""	""	""	"1"	""	"00000"	"{PMID:Augstburger 2019:31465755}"	"family F5133, individual CIC08998, proband"	"?"	""	"France"	""	"0"	""	""	""	"F5133_CIC08998"
"00405400"	""	""	""	"1"	""	"00000"	"{PMID:Augstburger 2019:31465755}"	"family F1244, individual CIC03065, proband"	"?"	""	"France"	""	"0"	""	""	""	"F1244_CIC03065"
"00405401"	""	""	""	"1"	""	"00000"	"{PMID:Augstburger 2019:31465755}"	"family F1244, individual CIC03066,  affected mother"	"?"	""	"France"	""	"0"	""	""	""	"F1244_CIC03066"
"00405402"	""	""	""	"1"	""	"00000"	"{PMID:Augstburger 2019:31465755}"	"family F258, individual CIC00378, proband"	"?"	""	"France"	""	"0"	""	""	""	"F258_CIC00378"
"00405403"	""	""	""	"1"	""	"00000"	"{PMID:Augstburger 2019:31465755}"	"family F1306, individual CIC03147, proband"	"?"	""	"France"	""	"0"	""	""	""	"F1306_CIC03147"
"00405404"	""	""	""	"1"	""	"00000"	"{PMID:Augstburger 2019:31465755}"	"family F1112, individual CIC02902, proband"	"?"	""	"France"	""	"0"	""	""	""	"F1112_CIC02902"
"00405405"	""	""	""	"1"	""	"00000"	"{PMID:Augstburger 2019:31465755}"	"family F2353, individual CIC04736, proband"	"?"	""	"France"	""	"0"	""	""	""	"F2353_CIC04736"
"00405406"	""	""	""	"1"	""	"00000"	"{PMID:Augstburger 2019:31465755}"	"family F3880, individual CIC07058, proband"	"?"	""	"France"	""	"0"	""	""	""	"F3880_CIC07058"
"00405407"	""	""	""	"1"	""	"00000"	""	"family F6234, individual CIC10760, proband"	"?"	""	"France"	""	"0"	""	""	""	"F6234_CIC10760"
"00405408"	""	""	""	"1"	""	"00000"	"{PMID:Augstburger 2019:31465755}"	"family F3196, individual CIC06078, proband"	"?"	""	"France"	""	"0"	""	""	""	"F3196_CIC06078"
"00405409"	""	""	""	"1"	""	"00000"	"{PMID:Augstburger 2019:31465755}"	"family F3969, individual CIC07207, proband"	"?"	""	"France"	""	"0"	""	""	""	"F3969_CIC07207"
"00405410"	""	""	""	"1"	""	"00000"	"{PMID:Augstburger 2019:31465755}"	"family F3828, individual CIC06976, proband"	"?"	""	"France"	""	"0"	""	""	""	"F3828_CIC06976"
"00405411"	""	""	""	"1"	""	"00000"	"{PMID:Augstburger 2019:31465755}"	"family F3993, individual CIC07245, proband"	"?"	""	"France"	""	"0"	""	""	""	"F3993_CIC07245"
"00405412"	""	""	""	"1"	""	"00000"	"{PMID:Augstburger 2019:31465755}"	"family F2656, individual CIC05239, proband"	"?"	""	"France"	""	"0"	""	""	""	"F2656_CIC05239"
"00405413"	""	""	""	"1"	""	"00000"	"{PMID:Augstburger 2019:31465755}"	"family F2656, individual CIC05240, proband"	"?"	""	"France"	""	"0"	""	""	""	"F2656_CIC05240"
"00405414"	""	""	""	"1"	""	"00000"	"{PMID:Augstburger 2019:31465755}"	"family F5353, individual CIC09328, proband"	"?"	""	"France"	""	"0"	""	""	""	"F5353_CIC09328"
"00405415"	""	""	""	"1"	""	"00000"	"{PMID:Augstburger 2019:31465755}"	"family F5572, individual CIC09716, proband"	"?"	""	"France"	""	"0"	""	""	""	"F5572_CIC09716"
"00405416"	""	""	""	"1"	""	"00000"	"{PMID:Augstburger 2019:31465755}"	"family F2579, individual CIC05106, proband"	"?"	""	"France"	""	"0"	""	""	""	"F2579_CIC05106"
"00405417"	""	""	""	"1"	""	"00000"	"{PMID:Augstburger 2019:31465755}"	"family F897, individual CIC02569, proband"	"?"	""	"France"	""	"0"	""	""	""	"F897_CIC02569"
"00405418"	""	""	""	"1"	""	"00000"	"{PMID:Augstburger 2019:31465755}"	"family F897, individual CIC02568, father"	"?"	""	"France"	""	"0"	""	""	""	"F897_CIC02568"
"00405419"	""	""	""	"1"	""	"00000"	"{PMID:Augstburger 2019:31465755}"	"family F897, individual CIC03575, affected cousin"	"?"	""	"France"	""	"0"	""	""	""	"F897_CIC03575"
"00405420"	""	""	""	"1"	""	"00000"	"{PMID:Augstburger 2019:31465755}"	"family F2913, individual CIC05668, proband"	"?"	""	"France"	""	"0"	""	""	""	"F2913_CIC05668"
"00405421"	""	""	""	"1"	""	"00000"	"{PMID:Augstburger 2019:31465755}"	"family F3491, individual CIC06526, proband"	"?"	""	"France"	""	"0"	""	""	""	"F3491_CIC06526"
"00405422"	""	""	""	"1"	""	"00000"	"{PMID:Augstburger 2019:31465755}"	"family F3128, individual CIC05972, proband"	"?"	""	"France"	""	"0"	""	""	""	"F3128_CIC05972"
"00405423"	""	""	""	"1"	""	"00000"	"{PMID:Augstburger 2019:31465755}"	"family F3128, individual CIC05974, proband"	"?"	""	"France"	""	"0"	""	""	""	"F3128_CIC05974"
"00405424"	""	""	""	"1"	""	"00000"	"{PMID:Augstburger 2019:31465755}"	"family F2772, individual CIC05450, proband"	"?"	""	"France"	""	"0"	""	""	""	"F2772_CIC05450"
"00405425"	""	""	""	"1"	""	"00000"	""	"family F6725, individual CIC11655, proband"	"?"	""	"France"	""	"0"	""	""	""	"F6725_CIC11655"
"00405426"	""	""	""	"1"	""	"00000"	""	"family F6626, individual CIC11480, proband"	"?"	""	"France"	""	"0"	""	""	""	"F6626_CIC11480"
"00405427"	""	""	""	"1"	""	"00000"	"{PMID:Augstburger 2019:31465755}"	"family F4239, individual CIC07630, proband"	"?"	""	"France"	""	"0"	""	""	""	"F4239_CIC07630"
"00405434"	""	""	""	"1"	""	"00000"	"{PMID:Domingo Prim 2019:31518904}"	""	"F"	""	"Spain"	""	"0"	""	""	""	"?"
"00405463"	""	""	""	"1"	""	"00000"	"{PMID:Panpan 2020:31969119}"	"proband"	"F"	"yes"	"China"	""	"0"	""	""	"Han Chinese"	"V:6"
"00405464"	""	""	""	"1"	""	"00000"	"{PMID:Panpan 2020:31969119}"	"proband\'s older sister"	"F"	"yes"	"China"	""	"0"	""	""	"Han Chinese"	"V:5"
"00405465"	""	""	""	"1"	""	"00000"	"{PMID:Panpan 2020:31969119}"	"proband\'s younger sister"	"F"	"yes"	"China"	""	"0"	""	""	"Han Chinese"	"V:7"
"00405466"	""	""	""	"1"	""	"00000"	"{PMID:Nachtigal 2020:32111077}"	""	""	""	""	""	"0"	""	""	""	"+/N11K"
"00405467"	""	""	""	"1"	""	"00000"	"{PMID:Nachtigal 2020:32111077}"	""	""	""	""	""	"0"	""	""	""	"+/R218C"
"00405468"	""	""	""	"1"	""	"00000"	"{PMID:Nachtigal 2020:32111077}"	""	""	""	""	""	"0"	""	""	""	"+/I295del #1"
"00405469"	""	""	""	"1"	""	"00000"	"{PMID:Nachtigal 2020:32111077}"	""	""	""	""	""	"0"	""	""	""	"/+I295del #2"
"00405470"	""	""	""	"1"	""	"00000"	"{PMID:Nachtigal 2020:32111077}"	""	""	""	""	""	"0"	""	""	""	"N99K/R141H"
"00405471"	""	""	""	"1"	""	"00000"	"{PMID:Nachtigal 2020:32111077}"	""	""	""	""	""	"0"	""	""	""	"+/R141H"
"00405472"	""	""	""	"1"	""	"00000"	"{PMID:Nachtigal 2020:32111077}"	""	""	""	""	""	"0"	""	""	""	"A195V/L197PX26"
"00405473"	""	""	""	"1"	""	"00000"	"{PMID:Nachtigal 2020:32111077}"	""	""	""	""	""	"0"	""	""	""	"+/A195V"
"00405474"	""	""	""	"1"	""	"00000"	"{PMID:Nachtigal 2020:32111077}"	""	""	""	""	""	"0"	""	""	""	"+/L197PX26"
"00405475"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2020:32147488}"	""	"F"	""	""	""	"0"	""	""	""	"1"
"00405476"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2020:32147488}"	""	"F"	""	""	""	"0"	""	""	""	"2"
"00405477"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2020:32147488}"	""	"F"	""	""	""	"0"	""	""	""	"3"
"00405478"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2020:32147488}"	""	"M"	""	""	""	"0"	""	""	""	"4"
"00405479"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2020:32147488}"	""	"F"	""	""	""	"0"	""	""	""	"5"
"00405480"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2020:32147488}"	""	"F"	""	""	""	"0"	""	""	""	"6"
"00405481"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2020:32147488}"	""	"F"	""	""	""	"0"	""	""	""	"7"
"00405482"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2020:32147488}"	""	"M"	""	""	""	"0"	""	""	""	"8"
"00405483"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2020:32147488}"	""	"M"	""	""	""	"0"	""	""	""	"9"
"00405484"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2020:32147488}"	""	"M"	""	""	""	"0"	""	""	""	"10"
"00405485"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2020:32147488}"	""	"M"	""	""	""	"0"	""	""	""	"11"
"00405486"	""	""	""	"1"	""	"00000"	"{PMID:Garza-Garza 2020:32207364}"	""	"F"	""	"Mexico"	""	"0"	""	""	""	""
"00405487"	""	""	""	"1"	""	"00000"	"{PMID:Garza-Garza 2020:32207364}"	""	"M"	""	"Mexico"	""	"0"	""	""	""	""
"00405488"	""	""	""	"1"	""	"00000"	"{PMID:Garza-Garza 2020:32207364}"	""	"F"	""	"Mexico"	""	"0"	""	""	""	""
"00405497"	""	""	""	"1"	""	"00000"	"{PMID:Shah 2020:32239196}"	"family 1, individual 1"	""	""	""	""	"0"	""	""	"South Asian"	"1"
"00405498"	""	""	""	"1"	""	"00000"	"{PMID:Shah 2020:32239196}"	"family 1, individual 2"	""	""	""	""	"0"	""	""	"South Asian"	"1"
"00405499"	""	""	""	"1"	""	"00000"	"{PMID:Shah 2020:32239196}"	"family 1, individual 3"	""	""	""	""	"0"	""	""	"South Asian"	"1"
"00405500"	""	""	""	"1"	""	"00000"	"{PMID:Shah 2020:32239196}"	"family 1, individual 4"	""	""	""	""	"0"	""	""	"South Asian"	"1"
"00405501"	""	""	""	"1"	""	"00000"	"{PMID:Shah 2020:32239196}"	"family 1, individual 5"	""	""	""	""	"0"	""	""	"South Asian"	"1"
"00405502"	""	""	""	"1"	""	"00000"	"{PMID:Shah 2020:32239196}"	"family 1, individual 6"	""	""	""	""	"0"	""	""	"South Asian"	"1"
"00405503"	""	""	""	"1"	""	"00000"	"{PMID:Shah 2020:32239196}"	"family 2, individual 1"	""	""	""	""	"0"	""	""	"South Asian"	"2"
"00405504"	""	""	""	"1"	""	"00000"	"{PMID:Shah 2020:32239196}"	"family 3, individual 1"	""	""	""	""	"0"	""	""	"South Asian"	"3"
"00405505"	""	""	""	"1"	""	"00000"	"{PMID:Shah 2020:32239196}"	"family 4, individual 1"	""	""	""	""	"0"	""	""	"South Asian"	"4"
"00405506"	""	""	""	"1"	""	"00000"	"{PMID:Shah 2020:32239196}"	"family 5, individual 1"	""	""	""	""	"0"	""	""	"South Asian"	"5"
"00405507"	""	""	""	"1"	""	"00000"	"{PMID:Shah 2020:32239196}"	"family 6, individual 1"	""	""	""	""	"0"	""	""	"European"	"6"
"00405508"	""	""	""	"1"	""	"00000"	"{PMID:Shah 2020:32239196}"	"family 6, individual 2"	""	""	""	""	"0"	""	""	"European"	"6"
"00405509"	""	""	""	"1"	""	"00000"	"{PMID:Shah 2020:32239196}"	"family 7, individual 1"	""	""	""	""	"0"	""	""	"South Asian"	"7"
"00405510"	""	""	""	"1"	""	"00000"	"{PMID:Shah 2020:32239196}"	"family 8, individual 1"	""	""	""	""	"0"	""	""	""	"8"
"00405511"	""	""	""	"1"	""	"00000"	"{PMID:Shah 2020:32239196}"	"family 9, individual 1"	""	""	""	""	"0"	""	""	""	"9"
"00405512"	""	""	""	"1"	""	"00000"	"{PMID:Campa 2020:32321300}"	""	""	""	"Italy"	""	"0"	""	""	""	"?"
"00405527"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F10-1"
"00405528"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F1-1"
"00405529"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F11-1"
"00405530"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"F"	""	"China"	""	"0"	""	""	""	"F12-1"
"00405531"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F13-1"
"00405532"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"F"	""	"China"	""	"0"	""	""	""	"F13-2"
"00405533"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"F"	"yes"	"China"	""	"0"	""	""	""	"F14-1"
"00405534"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F15-1"
"00405535"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"F"	""	"China"	""	"0"	""	""	""	"F16-1"
"00405536"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"F"	""	"China"	""	"0"	""	""	""	"F17-1"
"00405537"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"F"	""	"China"	""	"0"	""	""	""	"F18-1"
"00405538"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"F"	""	"China"	""	"0"	""	""	""	"F19-1"
"00405539"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"F"	""	"China"	""	"0"	""	""	""	"F20-1"
"00405540"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F2-1"
"00405541"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F21-1"
"00405542"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F22-1"
"00405543"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F23-1"
"00405544"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"F"	""	"China"	""	"0"	""	""	""	"F24-1"
"00405545"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F25-1"
"00405546"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F25-2"
"00405547"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"F"	""	"China"	""	"0"	""	""	""	"F25-3"
"00405548"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F26-1"
"00405549"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F27-1"
"00405550"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"F"	""	"China"	""	"0"	""	""	""	"F28-1"
"00405551"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"F"	""	"China"	""	"0"	""	""	""	"F28-2"
"00405552"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"F"	""	"China"	""	"0"	""	""	""	"F29-1"
"00405553"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"F"	""	"China"	""	"0"	""	""	""	"F29-2"
"00405554"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"F"	""	"China"	""	"0"	""	""	""	"F29-3"
"00405555"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"F"	""	"China"	""	"0"	""	""	""	"F29-4"
"00405556"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"F"	""	"China"	""	"0"	""	""	""	"F30-1"
"00405557"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F30-2"
"00405558"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F3-1"
"00405559"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F31-1"
"00405560"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F32-1"
"00405561"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"F"	""	"China"	""	"0"	""	""	""	"F33-1"
"00405562"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F33-2"
"00405563"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F33-3"
"00405564"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F34-1"
"00405565"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F34-2"
"00405566"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"F"	""	"China"	""	"0"	""	""	""	"F35-1"
"00405567"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F36-1"
"00405568"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"F"	""	"China"	""	"0"	""	""	""	"F37-1"
"00405569"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F37-2"
"00405570"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"F"	"yes"	"China"	""	"0"	""	""	""	"F38-1"
"00405571"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F39-1"
"00405572"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"F"	""	"China"	""	"0"	""	""	""	"F39-1"
"00405573"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F40-1"
"00405574"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"F"	""	"China"	""	"0"	""	""	""	"F40-2"
"00405575"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"F"	""	"China"	""	"0"	""	""	""	"F40-3"
"00405576"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"F"	""	"China"	""	"0"	""	""	""	"F4-1"
"00405577"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F41-1"
"00405578"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"F"	""	"China"	""	"0"	""	""	""	"F41-2"
"00405579"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F42-1"
"00405580"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F43-1"
"00405581"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F43-2"
"00405582"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"F"	"yes"	"China"	""	"0"	""	""	""	"F44-1"
"00405583"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F45-1"
"00405584"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"F"	""	"China"	""	"0"	""	""	""	"F45-2"
"00405585"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F45-3"
"00405586"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F45-4"
"00405587"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"F"	""	"China"	""	"0"	""	""	""	"F45-5"
"00405588"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F46-1"
"00405589"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"F"	""	"China"	""	"0"	""	""	""	"F46-2"
"00405590"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F46-3"
"00405591"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F47-1"
"00405592"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"F"	""	"China"	""	"0"	""	""	""	"F47-2"
"00405593"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"F"	""	"China"	""	"0"	""	""	""	"F48-1"
"00405594"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"F"	""	"China"	""	"0"	""	""	""	"F48-2"
"00405595"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"F"	""	"China"	""	"0"	""	""	""	"F49-1"
"00405596"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"F"	""	"China"	""	"0"	""	""	""	"F49-2"
"00405597"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F49-3"
"00405598"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"F"	""	"China"	""	"0"	""	""	""	"F49-4"
"00405599"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F49-5"
"00405600"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F50-1"
"00405601"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F5-1"
"00405602"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"F"	"yes"	"China"	""	"0"	""	""	""	"F51-1"
"00405603"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F52-1"
"00405604"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"F"	""	"China"	""	"0"	""	""	""	"F52-2"
"00405605"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F52-3"
"00405606"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"F"	""	"China"	""	"0"	""	""	""	"F53-1"
"00405607"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F54-1"
"00405608"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F54-2"
"00405609"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F55-1"
"00405610"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F56-1"
"00405611"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F56-2"
"00405612"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F57-1"
"00405613"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F57-2"
"00405614"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"F"	""	"China"	""	"0"	""	""	""	"F58-1"
"00405615"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"F"	""	"China"	""	"0"	""	""	""	"F58-2"
"00405616"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F6-1"
"00405617"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F7-1"
"00405618"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F8-1"
"00405619"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31519547}"	""	"M"	""	"China"	""	"0"	""	""	""	"F9-1"
"00405674"	""	""	""	"1"	""	"00000"	"{PMID:Frecer 2019:31570112}"	""	"M"	""	"Italy"	""	"0"	""	""	""	"P1"
"00405675"	""	""	""	"1"	""	"00000"	"{PMID:Frecer 2019:31570112}"	""	"F"	""	"Italy"	""	"0"	""	""	""	"P2"
"00405676"	""	""	""	"1"	""	"00000"	"{PMID:Frecer 2019:31570112}"	""	"F"	""	"Italy"	""	"0"	""	""	""	"P3"
"00405677"	""	""	""	"1"	""	"00000"	"{PMID:Frecer 2019:31570112}"	""	"M"	""	"Italy"	""	"0"	""	""	""	"P4"
"00405678"	""	""	""	"1"	""	"00000"	"{PMID:Frecer 2019:31570112}"	""	"F"	""	"Italy"	""	"0"	""	""	""	"P5"
"00405679"	""	""	""	"1"	""	"00000"	"{PMID:Frecer 2019:31570112}"	""	"M"	""	"Italy"	""	"0"	""	""	""	"P6"
"00405680"	""	""	""	"1"	""	"00000"	"{PMID:Frecer 2019:31570112}"	""	"F"	""	"Italy"	""	"0"	""	""	""	"P7"
"00405681"	""	""	""	"1"	""	"00000"	"{PMID:Frecer 2019:31570112}"	""	"M"	""	"Italy"	""	"0"	""	""	""	"P8"
"00405682"	""	""	""	"1"	""	"00000"	"{PMID:Frecer 2019:31570112}"	""	"F"	""	"Italy"	""	"0"	""	""	""	"P9"
"00405683"	""	""	""	"1"	""	"00000"	"{PMID:Frecer 2019:31570112}"	""	"F"	""	"Italy"	""	"0"	""	""	""	"P10"
"00405684"	""	""	""	"1"	""	"00000"	"{PMID:Frecer 2019:31570112}"	""	"F"	""	"Italy"	""	"0"	""	""	""	"P11"
"00405685"	""	""	""	"1"	""	"00000"	"{PMID:Frecer 2019:31570112}"	""	"F"	""	"Italy"	""	"0"	""	""	""	"P12"
"00405686"	""	""	""	"1"	""	"00000"	"{PMID:Frecer 2019:31570112}"	""	"M"	""	"Italy"	""	"0"	""	""	""	"P13"
"00405687"	""	""	""	"1"	""	"00000"	"{PMID:Frecer 2019:31570112}"	""	"F"	""	"Italy"	""	"0"	""	""	""	"P14"
"00405688"	""	""	""	"1"	""	"00000"	"{PMID:Frecer 2019:31570112}"	""	"M"	""	"Italy"	""	"0"	""	""	""	"P15"
"00405689"	""	""	""	"1"	""	"00000"	"{PMID:Frecer 2019:31570112}"	""	"M"	""	"Italy"	""	"0"	""	""	""	"P16"
"00405690"	""	""	""	"1"	""	"00000"	"{PMID:Frecer 2019:31570112}"	""	"M"	""	"Italy"	""	"0"	""	""	""	"P17"
"00405691"	""	""	""	"1"	""	"00000"	"{PMID:Frecer 2019:31570112}"	""	"M"	""	"Italy"	""	"0"	""	""	""	"P18"
"00405692"	""	""	""	"1"	""	"00000"	"{PMID:Frecer 2019:31570112}"	""	"F"	""	"Italy"	""	"0"	""	""	""	"P19"
"00405693"	""	""	""	"1"	""	"00000"	"{PMID:Frecer 2019:31570112}"	""	"M"	""	"Italy"	""	"0"	""	""	""	"P20"
"00405694"	""	""	""	"1"	""	"00000"	"{PMID:Frecer 2019:31570112}"	""	"F"	""	"Italy"	""	"0"	""	""	""	"P21"
"00405695"	""	""	""	"1"	""	"00000"	"{PMID:Frecer 2019:31570112}"	""	"F"	""	"Italy"	""	"0"	""	""	""	"P22"
"00405696"	""	""	""	"1"	""	"00000"	"{PMID:Frecer 2019:31570112}"	""	"M"	""	"Italy"	""	"0"	""	""	""	"P23"
"00405697"	""	""	""	"1"	""	"00000"	"{PMID:Frecer 2019:31570112}"	""	"M"	""	"Italy"	""	"0"	""	""	""	"P24"
"00405698"	""	""	""	"1"	""	"00000"	"{PMID:Frecer 2019:31570112}"	""	"M"	""	"Italy"	""	"0"	""	""	""	"P25"
"00405699"	""	""	""	"1"	""	"00000"	"{PMID:Frecer 2019:31570112}"	""	"M"	""	"Italy"	""	"0"	""	""	""	"P26"
"00405700"	""	""	""	"1"	""	"00000"	"{PMID:Frecer 2019:31570112}"	""	"F"	""	"Italy"	""	"0"	""	""	""	"P27"
"00405701"	""	""	""	"1"	""	"00000"	"{PMID:Frecer 2019:31570112}"	""	"M"	""	"Italy"	""	"0"	""	""	""	"P28"
"00405702"	""	""	""	"1"	""	"00000"	"{PMID:Frecer 2019:31570112}"	""	"F"	""	"Italy"	""	"0"	""	""	""	"P29"
"00405703"	""	""	""	"1"	""	"00000"	"{PMID:Frecer 2019:31570112}"	""	"F"	""	"Italy"	""	"0"	""	""	""	"P30"
"00405704"	""	""	""	"1"	""	"00000"	"{PMID:Frecer 2019:31570112}"	""	"M"	""	"Italy"	""	"0"	""	""	""	"P31"
"00405705"	""	""	""	"1"	""	"00000"	"{PMID:Frecer 2019:31570112}"	""	"M"	""	"Italy"	""	"0"	""	""	""	"P32"
"00405706"	""	""	""	"1"	""	"00000"	"{PMID:Frecer 2019:31570112}"	""	"F"	""	"Italy"	""	"0"	""	""	""	"P33"
"00405707"	""	""	""	"1"	""	"00000"	"{PMID:Frecer 2019:31570112}"	""	"M"	""	"Italy"	""	"0"	""	""	""	"P34"
"00405708"	""	""	""	"1"	""	"00000"	"{PMID:Frecer 2019:31570112}"	""	"M"	""	"Italy"	""	"0"	""	""	""	"P35"
"00405709"	""	""	""	"1"	""	"00000"	"{PMID:Frecer 2019:31570112}"	""	"M"	""	"Italy"	""	"0"	""	""	""	"P36"
"00405718"	""	""	""	"1"	""	"00000"	"{PMID:Kopsidas 2019:31762771}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00405730"	""	""	""	"1"	""	"00000"	"{PMID:Shi 2020:32646389}"	""	"F"	"yes"	"China"	""	"0"	""	""	""	"?"
"00405731"	""	""	""	"1"	""	"00000"	"{PMID:Hwan Lee 2020:32882766}"	""	"F"	""	"Korea, South (Republic)"	""	"0"	""	""	""	"Patient 1"
"00405732"	""	""	""	"1"	""	"00000"	"{PMID:Hwan Lee 2020:32882766}"	""	"F"	""	"Korea, South (Republic)"	""	"0"	""	""	""	"Patient 2"
"00405741"	""	""	""	"1"	""	"00000"	"{PMID:Habibi 2019:31766397}"	"Family A"	"F"	""	""	""	"0"	""	""	""	"Proband (ll.1)"
"00405742"	""	""	""	"1"	""	"00000"	"{PMID:Habibi 2019:31766397}"	"Family A"	"F"	""	""	""	"0"	""	""	""	"Mother (I.2)"
"00405743"	""	""	""	"1"	""	"00000"	"{PMID:Habibi 2019:31766397}"	"Family A"	"M"	""	""	""	"0"	""	""	""	"Sibling (ll.2)"
"00405744"	""	""	""	"1"	""	"00000"	"{PMID:Habibi 2019:31766397}"	"Family A"	"M"	""	""	""	"0"	""	""	""	"Sibling (ll.3)"
"00405745"	""	""	""	"1"	""	"00000"	"{PMID:Habibi 2019:31766397}"	"Family A"	"M"	""	""	""	"0"	""	""	""	"Sibling (Il.4)"
"00405746"	""	""	""	"1"	""	"00000"	"{PMID:Habibi 2019:31766397}"	"Family A"	"M"	""	""	""	"0"	""	""	""	"Sibling (Il.5)"
"00405747"	""	""	""	"1"	""	"00000"	"{PMID:Habibi 2019:31766397}"	"Family B"	"M"	""	""	""	"0"	""	""	""	"Proband (ll.3)"
"00405748"	""	""	""	"1"	""	"00000"	"{PMID:Habibi 2019:31766397}"	"Family C"	"F"	""	""	""	"0"	""	""	""	"Proband (ll.1)"
"00405749"	""	""	""	"1"	""	"00000"	"{PMID:Habibi 2019:31766397}"	"Family D"	"M"	""	""	""	"0"	""	""	""	"Proband (II.1)"
"00405750"	""	""	""	"1"	""	"00000"	"{PMID:Habibi 2019:31766397}"	"Family E"	"F"	""	""	""	"0"	""	""	""	"Proband (II.1)"
"00405751"	""	""	""	"1"	""	"00000"	"{PMID:Habibi 2019:31766397}"	"Family F"	"M"	""	""	""	"0"	""	""	""	"Proband (II.1)"
"00405752"	""	""	""	"1"	""	"00000"	"{PMID:Habibi 2019:31766397}"	"Family F"	"M"	""	""	""	"0"	""	""	""	"Sibling (II.2)"
"00405780"	""	""	""	"1"	""	"00000"	"{PMID:Bonilha 2020:33154968}"	""	""	""	""	"85y"	"0"	""	""	""	"donor 1"
"00405781"	""	""	""	"1"	""	"00000"	"{PMID:Bonilha 2020:33154968}"	""	""	""	""	"65y"	"0"	""	""	""	"donor 2"
"00405785"	""	""	""	"1"	""	"00000"	"{PMID:Hufendiek 2020:33302512}"	"additional affected: none; family F1_1, individual 1"	"F"	""	"Germany"	""	"0"	""	""	""	"F1_1"
"00405786"	""	""	""	"1"	""	"00000"	"{PMID:Hufendiek 2020:33302512}"	"additional affected: paternal uncle; family F2_2, individual 2"	"M"	""	"Germany"	""	"0"	""	""	""	"F2_2"
"00405787"	""	""	""	"1"	""	"00000"	"{PMID:Hufendiek 2020:33302512}"	"additional affected: none; family F3_3, individual 3"	"M"	""	"Germany"	""	"0"	""	""	""	"F3_3"
"00405788"	""	""	""	"1"	""	"00000"	"{PMID:Hufendiek 2020:33302512}"	"additional affected: sister (#12); family F4_4, individual 4"	"F"	""	"Germany"	""	"0"	""	""	""	"F4_4"
"00405789"	""	""	""	"1"	""	"00000"	"{PMID:Hufendiek 2020:33302512}"	"additional affected: sister (#6); family F5_5, individual 5"	"F"	""	"Germany"	""	"0"	""	""	""	"F5_5"
"00405790"	""	""	""	"1"	""	"00000"	"{PMID:Hufendiek 2020:33302512}"	"additional affected: sister (#5); family F5_6, individual 6"	"F"	""	"Germany"	""	"0"	""	""	""	"F5_6"
"00405791"	""	""	""	"1"	""	"00000"	"{PMID:Hufendiek 2020:33302512}"	"additional affected: none; family F6_7, individual 7"	"F"	""	"Germany"	""	"0"	""	""	""	"F6_7"
"00405792"	""	""	""	"1"	""	"00000"	"{PMID:Hufendiek 2020:33302512}"	"additional affected: none; family F7_8, individual 8"	"F"	""	"Germany"	""	"0"	""	""	""	"F7_8"
"00405793"	""	""	""	"1"	""	"00000"	"{PMID:Hufendiek 2020:33302512}"	"additional affected: none; family F8_9, individual 9"	"M"	""	"Germany"	""	"0"	""	""	""	"F8_9"
"00405794"	""	""	""	"1"	""	"00000"	"{PMID:Hufendiek 2020:33302512}"	"additional affected: none; family F9_10, individual 10"	"F"	""	"Germany"	""	"0"	""	""	""	"F9_10"
"00405795"	""	""	""	"1"	""	"00000"	"{PMID:Hufendiek 2020:33302512}"	"additional affected: none; family F10_11, individual 11"	"M"	""	"Germany"	""	"0"	""	""	""	"F10_11"
"00405796"	""	""	""	"1"	""	"00000"	"{PMID:Hufendiek 2020:33302512}"	"additional affected: sister (#4); family F4_12, individual 12"	"F"	""	"Germany"	""	"0"	""	""	""	"F4_12"
"00405797"	""	""	""	"1"	""	"00000"	"{PMID:Hufendiek 2020:33302512}"	"additional affected: none; family F11_13, individual 13"	"M"	""	"Germany"	""	"0"	""	""	""	"F11_13"
"00405798"	""	""	""	"1"	""	"00000"	"{PMID:Hufendiek 2020:33302512}"	"additional affected: none; family F12_14, individual 14"	"M"	""	"Germany"	""	"0"	""	""	""	"F12_14"
"00405799"	""	""	""	"1"	""	"00000"	"{PMID:Hufendiek 2020:33302512}"	"additional affected: family 13, affected family members: sister, maternal uncle, brother (not tested); family F13_15, individual 15"	"M"	""	"Germany"	""	"0"	""	""	""	"F13_15"
"00405800"	""	""	""	"1"	""	"00000"	"{PMID:Hufendiek 2020:33302512}"	"additional affected: brother (#17); family F14_16, individual 16"	"M"	""	"Germany"	""	"0"	""	""	""	"F14_16"
"00405801"	""	""	""	"1"	""	"00000"	"{PMID:Hufendiek 2020:33302512}"	"additional affected: brother (#16); family F14_17, individual 17"	"M"	""	"Germany"	""	"0"	""	""	""	"F14_17"
"00405802"	""	""	""	"1"	""	"00000"	"{PMID:Hufendiek 2020:33302512}"	"additional affected: brother (macular degeneration); family F15_18, individual 18"	"F"	""	"Germany"	""	"0"	""	""	""	"F15_18"
"00405808"	""	""	""	"1"	""	"00000"	"{PMID:Yamada 2021:33767958}"	""	"M"	""	"Japan"	""	"0"	""	""	""	"proband"
"00405809"	""	""	""	"1"	""	"00000"	"{PMID:Yamada 2021:33767958}"	""	"M"	""	"Japan"	""	"0"	""	""	""	"dizygotic twin of the proband"
"00405906"	""	""	""	"1"	""	"00000"	"{PMID:Soto-Sierra 2021:33866859}"	""	"M"	""	"Spain"	""	"0"	""	""	""	"?"
"00405909"	""	""	""	"1"	""	"00000"	"{PMID:Kaden 2017:27668499}"	""	"F"	""	""	""	"0"	""	""	""	"?"
"00405913"	""	""	""	"1"	""	"00000"	"{PMID:Pfister 2021:34015078}"	""	"F"	""	"United States"	""	"0"	""	""	""	"A: III,1"
"00405914"	""	""	""	"1"	""	"00000"	"{PMID:Pfister 2021:34015078}"	""	"F"	""	"United States"	""	"0"	""	""	""	"B: III,1"
"00405915"	""	""	""	"1"	""	"00000"	"{PMID:Pfister 2021:34015078}"	""	"F"	""	"United States"	""	"0"	""	""	""	"B: III,2"
"00405916"	""	""	""	"1"	""	"00000"	"{PMID:Pfister 2021:34015078}"	""	"F"	""	"United States"	""	"0"	""	""	""	"C: II,2"
"00405917"	""	""	""	"1"	""	"00000"	"{PMID:Pfister 2021:34015078}"	""	"F"	""	"United States"	""	"0"	""	""	""	"D: IV,2"
"00405918"	""	""	""	"1"	""	"00000"	"{PMID:Pfister 2021:34015078}"	""	"F"	""	"United States"	""	"0"	""	""	""	"E: IV,5"
"00405919"	""	""	""	"1"	""	"00000"	"{PMID:Pfister 2021:34015078}"	""	"M"	""	"United States"	""	"0"	""	""	""	"F: III,1"
"00405920"	""	""	""	"1"	""	"00000"	"{PMID:Pfister 2021:34015078}"	""	"F"	""	"United States"	""	"0"	""	""	""	"F: III,2"
"00405921"	""	""	""	"1"	""	"00000"	"{PMID:Pfister 2021:34015078}"	""	"M"	""	"United States"	""	"0"	""	""	""	"G: II,1"
"00405922"	""	""	""	"1"	""	"00000"	"{PMID:Pfister 2021:34015078}"	""	"F"	""	"United States"	""	"0"	""	""	""	"H: II,1"
"00405923"	""	""	""	"1"	""	"00000"	"{PMID:Nowomiejska 2021:34327816}"	""	"F"	""	""	""	"0"	""	""	"German"	"MB19"
"00405924"	""	""	""	"1"	""	"00000"	"{PMID:Nowomiejska 2021:34327816}"	""	"M"	""	""	""	"0"	""	""	"German"	"MB27"
"00405925"	""	""	""	"1"	""	"00000"	"{PMID:Nowomiejska 2021:34327816}"	""	"M"	""	""	""	"0"	""	""	"German"	"MB28"
"00405926"	""	""	""	"1"	""	"00000"	"{PMID:Nowomiejska 2021:34327816}"	""	"M"	""	""	""	"0"	""	""	"German"	"MB31"
"00405927"	""	""	""	"1"	""	"00000"	"{PMID:Nowomiejska 2021:34327816}"	"family MB38, individual 1"	"F"	""	""	""	"0"	""	""	"German"	"MB38-1"
"00405928"	""	""	""	"1"	""	"00000"	"{PMID:Nowomiejska 2021:34327816}"	"family MB38, individual 2"	"F"	""	""	""	"0"	""	""	"German"	"MB38-2"
"00405929"	""	""	""	"1"	""	"00000"	"{PMID:Nowomiejska 2021:34327816}"	"family MB46, individual 1"	"M"	""	""	""	"0"	""	""	"German"	"MB46-1"
"00405930"	""	""	""	"1"	""	"00000"	"{PMID:Nowomiejska 2021:34327816}"	"family MB46, individual 2"	"F"	""	""	""	"0"	""	""	"German"	"MB46-2"
"00405931"	""	""	""	"1"	""	"00000"	"{PMID:Nowomiejska 2021:34327816}"	"family MB46, individual 3"	"F"	""	""	""	"0"	""	""	"German"	"MB46-3"
"00405932"	""	""	""	"1"	""	"00000"	"{PMID:Nowomiejska 2021:34327816}"	"family MB48, individual 1"	"M"	""	""	""	"0"	""	""	"German"	"MB48-1"
"00405933"	""	""	""	"1"	""	"00000"	"{PMID:Nowomiejska 2021:34327816}"	"family MB48, individual 2"	"M"	""	""	""	"0"	""	""	"German"	"MB48-2"
"00405934"	""	""	""	"1"	""	"00000"	"{PMID:Nowomiejska 2021:34327816}"	"family MB48, individual 3"	"F"	""	""	""	"0"	""	""	"German"	"MB48-3"
"00405935"	""	""	""	"1"	""	"00000"	"{PMID:Nowomiejska 2021:34327816}"	"family MB48, individual 4"	"F"	""	""	""	"0"	""	""	"German"	"MB48-4"
"00405936"	""	""	""	"1"	""	"00000"	"{PMID:Nowomiejska 2021:34327816}"	"family MB6, individual 1"	"M"	""	""	""	"0"	""	""	"German"	"MB6-1"
"00405937"	""	""	""	"1"	""	"00000"	"{PMID:Nowomiejska 2021:34327816}"	"family MB6, individual 2"	"M"	""	""	""	"0"	""	""	"German"	"MB6-2"
"00405938"	""	""	""	"1"	""	"00000"	"{PMID:Nowomiejska 2021:34327816}"	"family MB6, individual 3"	"M"	""	""	""	"0"	""	""	"German"	"MB6-3"
"00405939"	""	""	""	"1"	""	"00000"	"{PMID:Nowomiejska 2021:34327816}"	""	"F"	""	""	""	"0"	""	""	"German"	"MB64"
"00405940"	""	""	""	"1"	""	"00000"	"{PMID:Nowomiejska 2021:34327816}"	"family MB6, individual 4"	"F"	""	""	""	"0"	""	""	"German"	"MB6-4"
"00405941"	""	""	""	"1"	""	"00000"	"{PMID:Nowomiejska 2021:34327816}"	""	"F"	""	""	""	"0"	""	""	"German"	"MB70"
"00405942"	""	""	""	"1"	""	"00000"	"{PMID:Nowomiejska 2021:34327816}"	""	"M"	""	""	""	"0"	""	""	"Italian"	"MB72"
"00405943"	""	""	""	"1"	""	"00000"	"{PMID:Nowomiejska 2021:34327816}"	""	"F"	""	""	""	"0"	""	""	"German"	"MB74"
"00405944"	""	""	""	"1"	""	"00000"	"{PMID:Nowomiejska 2021:34327816}"	""	"M"	""	""	""	"0"	""	""	"Arabic"	"MB80"
"00405945"	""	""	""	"1"	""	"00000"	"{PMID:Nowomiejska 2021:34327816}"	""	"M"	""	""	""	"0"	""	""	"German"	"MB83"
"00405946"	""	""	""	"1"	""	"00000"	"{PMID:Nowomiejska 2021:34327816}"	""	"M"	""	""	""	"0"	""	""	"German"	"MB86"
"00405947"	""	""	""	"1"	""	"00000"	"{PMID:Nowomiejska 2021:34327816}"	""	"F"	""	""	""	"0"	""	""	"German"	"MB88"
"00405948"	""	""	""	"1"	""	"00000"	"{PMID:Nowomiejska 2021:34327816}"	""	"M"	""	""	""	"0"	""	""	"German"	"MB91"
"00405949"	""	""	""	"1"	""	"00000"	"{PMID:Nowomiejska 2021:34327816}"	""	"M"	""	""	""	"0"	""	""	"German"	"MB92"
"00405950"	""	""	""	"1"	""	"00000"	"{PMID:Nowomiejska 2021:34327816}"	""	"M"	""	""	""	"0"	""	""	"Arabic"	"MB93"
"00405951"	""	""	""	"1"	""	"00000"	"{PMID:Nowomiejska 2021:34327816}"	""	"F"	""	""	""	"0"	""	""	"German"	"MDS122"
"00405952"	""	""	""	"1"	""	"00000"	"{PMID:Nowomiejska 2021:34327816}"	""	"F"	""	""	""	"0"	""	""	"German"	"MDS290"
"00405953"	""	""	""	"1"	""	"00000"	"{PMID:Nowomiejska 2021:34327816}"	""	"M"	""	""	""	"0"	""	""	"Italian"	"MDS309"
"00405957"	""	""	""	"1"	""	"00000"	"{PMID:Li 2021:34001763}"	"family 1, proband"	""	""	""	""	"0"	""	""	""	"proband"
"00405958"	""	""	""	"1"	""	"00000"	"{PMID:Li 2021:34001763}"	"family 1, proband\'s brother"	""	""	""	""	"0"	""	""	""	"proband\'s brother"
"00405960"	""	""	""	"1"	""	"00000"	"{PMID:Khojasteh 2021:34012682}"	"family 1, individual 11"	"F"	""	"Iran"	""	"0"	""	""	""	"1_11"
"00405961"	""	""	""	"1"	""	"00000"	"{PMID:Khojasteh 2021:34012682}"	"family 2, individual 22"	"F"	""	"Iran"	""	"0"	""	""	""	"2_22"
"00405962"	""	""	""	"1"	""	"00000"	"{PMID:Khojasteh 2021:34012682}"	"family 2, individual 7"	""	""	"Iran"	""	"0"	""	""	""	"2_7"
"00405963"	""	""	""	"1"	""	"00000"	"{PMID:Khojasteh 2021:34012682}"	"family 3, individual 17"	"M"	""	"Iran"	""	"0"	""	""	""	"3_17"
"00405964"	""	""	""	"1"	""	"00000"	"{PMID:Khojasteh 2021:34012682}"	"family 4, individual 23"	"F"	""	"Iran"	""	"0"	""	""	""	"4_23"
"00405965"	""	""	""	"1"	""	"00000"	"{PMID:Khojasteh 2021:34012682}"	"family 5, individual 24"	"M"	""	"Iran"	""	"0"	""	""	""	"5_24"
"00405966"	""	""	""	"1"	""	"00000"	"{PMID:Khojasteh 2021:34012682}"	"family 6, individual 4"	"F"	""	"Iran"	""	"0"	""	""	""	"6_4"
"00405967"	""	""	""	"1"	""	"00000"	"{PMID:Khojasteh 2021:34012682}"	"family 7, individual 20"	"F"	""	"Iran"	""	"0"	""	""	""	"7_20"
"00405968"	""	""	""	"1"	""	"00000"	"{PMID:Khojasteh 2021:34012682}"	"family 7, individual 21"	"M"	""	"Iran"	""	"0"	""	""	""	"7_21"
"00405969"	""	""	""	"1"	""	"00000"	"{PMID:Khojasteh 2021:34012682}"	"family 8, individual 18"	"F"	""	"Iran"	""	"0"	""	""	""	"8_18"
"00405970"	""	""	""	"1"	""	"00000"	"{PMID:Khojasteh 2021:34012682}"	"family 8, individual 19"	"F"	""	"Iran"	""	"0"	""	""	""	"8_19"
"00405971"	""	""	""	"1"	""	"00000"	"{PMID:Lin 2021:34373720}"	""	"F"	""	"China"	""	"0"	""	""	"Asian"	"Patient no. 1"
"00405972"	""	""	""	"1"	""	"00000"	"{PMID:Lin 2021:34373720}"	""	"M"	""	"China"	""	"0"	""	""	"Asian"	"Patient no. 2"
"00405973"	""	""	""	"1"	""	"00000"	"{PMID:Lin 2021:34373720}"	""	"M"	""	"China"	""	"0"	""	""	"Asian"	"Patient no. 3"
"00405974"	""	""	""	"1"	""	"00000"	"{PMID:Lin 2021:34373720}"	""	"M"	""	"China"	""	"0"	""	""	"Asian"	"Patient no. 4"
"00406438"	""	""	""	"1"	""	"00000"	"{PMID:Liu 2017:27031371}"	""	"F"	""	"China"	""	"0"	""	""	"Asian"	"?"
"00408394"	""	""	""	"1"	""	"03468"	""	""	""	""	""	""	""	""	""	""	""
"00411344"	""	""	""	"1"	""	"04333"	"{PMID:Ben Yosef 2023:37287645}"	"family, 1 affected"	"F"	"no"	"Israel"	""	"0"	""	""	"Ethiopia;Jew"	"Fam17"
"00414279"	""	""	""	"1"	""	"00000"	"{PMID:Casalino 2020:33039401}"	""	"F"	""	""	""	"0"	""	""	"white"	"1"
"00414280"	""	""	""	"1"	""	"00000"	"{PMID:Casalino 2020:33039401}"	""	"M"	""	""	""	"0"	""	""	"white"	"2"
"00414281"	""	""	""	"1"	""	"00000"	"{PMID:Casalino 2020:33039401}"	""	"M"	""	""	""	"0"	""	""	"Asian"	"3"
"00414282"	""	""	""	"1"	""	"00000"	"{PMID:Casalino 2020:33039401}"	""	"M"	""	""	""	"0"	""	""	"white"	"4"
"00414283"	""	""	""	"1"	""	"00000"	"{PMID:Casalino 2020:33039401}"	""	"M"	""	""	""	"0"	""	""	"Asian"	"5"
"00414284"	""	""	""	"1"	""	"00000"	"{PMID:Casalino 2020:33039401}"	""	"F"	""	""	""	"0"	""	""	"white"	"6"
"00414285"	""	""	""	"1"	""	"00000"	"{PMID:Casalino 2020:33039401}"	""	"F"	""	""	""	"0"	""	""	"white"	"7"
"00414286"	""	""	""	"1"	""	"00000"	"{PMID:Casalino 2020:33039401}"	""	"M"	""	""	""	"0"	""	""	"white"	"8"
"00414287"	""	""	""	"1"	""	"00000"	"{PMID:Casalino 2020:33039401}"	""	"M"	""	""	""	"0"	""	""	"white"	"9"
"00414288"	""	""	""	"1"	""	"00000"	"{PMID:Casalino 2020:33039401}"	""	"F"	""	""	""	"0"	""	""	"Asian"	"10"
"00414289"	""	""	""	"1"	""	"00000"	"{PMID:Casalino 2020:33039401}"	""	"F"	""	""	""	"0"	""	""	""	"11"
"00414290"	""	""	""	"1"	""	"00000"	"{PMID:Casalino 2020:33039401}"	""	"F"	""	""	""	"0"	""	""	"white"	"12"
"00414291"	""	""	""	"1"	""	"00000"	"{PMID:Casalino 2020:33039401}"	""	"M"	""	""	""	"0"	""	""	"black"	"13"
"00414292"	""	""	""	"1"	""	"00000"	"{PMID:Casalino 2020:33039401}"	""	"M"	""	""	""	"0"	""	""	"white"	"14"
"00414293"	""	""	""	"1"	""	"00000"	"{PMID:Casalino 2020:33039401}"	""	"M"	""	""	""	"0"	""	""	"white"	"15"
"00414294"	""	""	""	"1"	""	"00000"	"{PMID:Casalino 2020:33039401}"	""	"M"	""	""	""	"0"	""	""	""	"16"
"00414295"	""	""	""	"1"	""	"00000"	"{PMID:Casalino 2020:33039401}"	""	"M"	""	""	""	"0"	""	""	"Asian"	"17"
"00414296"	""	""	""	"1"	""	"00000"	"{PMID:Casalino 2020:33039401}"	""	"M"	""	""	""	"0"	""	""	""	"18"
"00414297"	""	""	""	"1"	""	"00000"	"{PMID:Casalino 2020:33039401}"	""	"M"	""	""	""	"0"	""	""	"white"	"20"
"00414298"	""	""	""	"1"	""	"00000"	"{PMID:Casalino 2020:33039401}"	""	"F"	""	""	""	"0"	""	""	"white"	"21"
"00414299"	""	""	""	"1"	""	"00000"	"{PMID:Casalino 2020:33039401}"	""	"F"	""	""	""	"0"	""	""	"white"	"22"
"00414300"	""	""	""	"1"	""	"00000"	"{PMID:Casalino 2020:33039401}"	""	"M"	""	""	""	"0"	""	""	"black"	"23"
"00414301"	""	""	""	"1"	""	"00000"	"{PMID:Casalino 2020:33039401}"	""	"M"	""	""	""	"0"	""	""	"black"	"24"
"00414302"	""	""	""	"1"	""	"00000"	"{PMID:Casalino 2020:33039401}"	""	"F"	""	""	""	"0"	""	""	"white"	"25"
"00414303"	""	""	""	"1"	""	"00000"	"{PMID:Casalino 2020:33039401}"	""	"F"	""	""	""	"0"	""	""	"white"	"26"
"00414304"	""	""	""	"1"	""	"00000"	"{PMID:Casalino 2020:33039401}"	""	"F"	""	""	""	"0"	""	""	"Asian"	"27"
"00414305"	""	""	""	"1"	""	"00000"	"{PMID:Casalino 2020:33039401}"	""	"F"	""	""	""	"0"	""	""	"white"	"28"
"00419690"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}"	""	"F"	""	""	""	"0"	""	""	""	"070617"
"00419691"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}"	""	"M"	""	""	""	"0"	""	""	""	"070682"
"00420436"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:33608557}"	""	""	""	"Taiwan"	""	"0"	""	""	""	"F069"
"00420474"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:33608557}"	""	""	""	"Taiwan"	""	"0"	""	""	""	"F140"
"00420482"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:33608557}"	""	""	""	"Taiwan"	""	"0"	""	""	""	"F152"
"00420520"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:33608557}"	""	""	""	"Taiwan"	""	"0"	""	""	""	"F209"
"00426899"	""	""	""	"1"	""	"00000"	"{PMID:Zhu 2022:35456422}"	"family 2, individual 2"	"M"	""	""	""	"0"	""	""	""	"2_2"
"00426900"	""	""	""	"1"	""	"00000"	"{PMID:Zhu 2022:35456422}"	"family 3, individual 3"	"M"	""	""	""	"0"	""	""	""	"3_3"
"00426901"	""	""	""	"1"	""	"00000"	"{PMID:Zhu 2022:35456422}"	"family 3, individual 4"	"F"	""	""	""	"0"	""	""	""	"3_4"
"00429662"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00429674"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00429685"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00429736"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00429998"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00430002"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00436602"	""	""	""	"1"	""	"04552"	"Villafuerte-de la Cruz RA, et al., 2023. Submitted"	""	"F"	"no"	"Mexico"	""	""	""	"NONE"	"Hispanic"	"3191274"
"00444878"	""	""	""	"1"	""	"00006"	"{PMID:Fan 2020:32883240}"	"2-generation family, 1 affected"	""	""	"China"	""	"0"	""	""	""	"Pat4"
"00444879"	""	""	""	"1"	""	"00006"	"{PMID:Fan 2020:32883240}"	"2-generation family, 1 affected"	""	""	"China"	""	"0"	""	""	""	"Pat5"
"00446483"	""	""	""	"2"	""	"00006"	"{PMID:Liu 2023:37337769}"	"family"	"M"	""	"China"	""	"0"	""	""	""	"Fam83Pat228"
"00446484"	""	""	"00446483"	"1"	""	"00006"	"{PMID:Liu 2023:37337769}"	"relative"	"M"	""	"China"	""	"0"	""	""	""	"Fam83Pat230"
"00446526"	""	""	""	"2"	""	"00006"	"{PMID:Liu 2023:37337769}"	"family, 1 affected"	"F"	""	"China"	""	"0"	""	""	""	"Fam129Pat343"
"00446527"	""	""	"00446526"	"1"	""	"00006"	"{PMID:Liu 2023:37337769}"	"relative"	"F"	""	"China"	""	"0"	""	""	""	"Fam129Pat345"
"00446945"	""	""	""	"2"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, 2 affected"	"M"	""	"Germany"	""	"0"	""	""	""	"ADRP-488"
"00447034"	""	""	""	"4"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, >3 affected"	"F"	""	"Germany"	""	"0"	""	""	""	"BVMD-48"
"00447036"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"BVMD-98"
"00447037"	""	""	""	"2"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, 2 affected"	"M"	""	"Germany"	""	"0"	""	""	""	"BVMD-103"
"00447038"	""	""	""	"4"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, >3 affected"	"F"	""	"Germany"	""	"0"	""	""	""	"BVMD-104"
"00447039"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"BVMD-105"
"00447040"	""	""	""	"2"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, 2 affected"	"F"	""	"Germany"	""	"0"	""	""	""	"BVMD-106"
"00447041"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"M"	""	"Germany"	""	"0"	""	""	""	"BVMD-110"
"00447042"	""	""	""	"2"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, 2 affected"	"M"	""	"Germany"	""	"0"	""	""	""	"BVMD-114-1"
"00447043"	""	""	"00447042"	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"relative"	"F"	""	"Germany"	""	"0"	""	""	""	"BVMD-114-2"
"00447044"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"BVMD-116"
"00447151"	""	""	""	"2"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, 2 affected"	"F"	""	"Germany"	""	"0"	""	""	""	"MDS-290"
"00447193"	""	""	""	"4"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, >3 affected"	"F"	""	"Germany"	""	"0"	""	""	""	"MISC-249"
"00447303"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"M"	""	"Germany"	""	"0"	""	""	""	"SRP-1209"
"00447519"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient"	"M"	""	"Germany"	""	"0"	""	""	""	"BVMD-108"
"00447700"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"SRP-920"
"00450712"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"M"	""	""	""	"0"	""	""	""	"066673"
"00450713"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"M"	""	""	""	"0"	""	""	""	"066820"
"00450714"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"F"	""	""	""	"0"	""	""	""	"071077"
"00450715"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"F"	""	""	""	"0"	""	""	""	"071078"
"00450716"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"M"	""	""	""	"0"	""	""	""	"072213"
"00450717"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"M"	""	""	""	"0"	""	""	""	"072214"
"00450718"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"F"	""	""	""	"0"	""	""	""	"072253"
"00450719"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"F"	""	""	""	"0"	""	""	""	"074088"
"00450720"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"M"	""	""	""	"0"	""	""	""	"074644"
"00450766"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"F"	""	""	""	"0"	""	""	""	"079818"
"00451035"	""	""	""	"1"	""	"00006"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	""	""	"0"	""	""	""	"065670"
"00461127"	""	""	""	"1"	""	"00006"	"{PMID:Midgley 2024:39676705}"	""	"F"	""	"South Africa"	""	"0"	""	""	"Africa-indigenous"	"Pat62"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 1875
"{{individualid}}"	"{{diseaseid}}"
"00000220"	"00027"
"00000221"	"00027"
"00033162"	"04214"
"00033170"	"04214"
"00100088"	"00381"
"00155391"	"03059"
"00155392"	"03059"
"00207676"	"04214"
"00207682"	"04214"
"00233202"	"04214"
"00233203"	"04214"
"00233204"	"04214"
"00233205"	"04214"
"00233206"	"04214"
"00233207"	"04214"
"00233208"	"04214"
"00233209"	"04214"
"00233773"	"04214"
"00263902"	"00198"
"00290459"	"00198"
"00290460"	"00198"
"00295936"	"00198"
"00300619"	"00198"
"00300621"	"00198"
"00305912"	"01424"
"00305912"	"05611"
"00305959"	"00198"
"00308417"	"04214"
"00308481"	"04214"
"00308482"	"04214"
"00308483"	"04214"
"00308484"	"04214"
"00308485"	"04214"
"00308486"	"04214"
"00308487"	"04214"
"00308601"	"04214"
"00308602"	"04214"
"00308633"	"04214"
"00308674"	"04214"
"00308735"	"00000"
"00308972"	"04214"
"00308973"	"04214"
"00308974"	"04214"
"00308975"	"04214"
"00308976"	"04214"
"00308977"	"04214"
"00308978"	"04214"
"00308979"	"04214"
"00308980"	"04214"
"00308981"	"04214"
"00308982"	"04214"
"00308983"	"04214"
"00308984"	"04214"
"00308985"	"04214"
"00325452"	"04214"
"00328191"	"04214"
"00328253"	"04214"
"00328427"	"04214"
"00328428"	"04214"
"00328429"	"04214"
"00331963"	"04214"
"00331964"	"04214"
"00331965"	"04214"
"00331966"	"04214"
"00331967"	"04214"
"00332014"	"04214"
"00332015"	"04214"
"00332016"	"04214"
"00332017"	"04214"
"00332018"	"04214"
"00332019"	"04214"
"00332020"	"04214"
"00332021"	"04214"
"00332022"	"04214"
"00332023"	"04214"
"00332024"	"04214"
"00332025"	"04214"
"00332026"	"04214"
"00332027"	"04214"
"00332504"	"04214"
"00333486"	"00198"
"00333682"	"04214"
"00333683"	"04214"
"00333684"	"04214"
"00333685"	"04214"
"00333686"	"04214"
"00333687"	"04214"
"00333688"	"04214"
"00333689"	"04214"
"00333690"	"04214"
"00333691"	"04214"
"00333692"	"04214"
"00333693"	"04214"
"00333694"	"04214"
"00333695"	"04214"
"00333696"	"04214"
"00333697"	"04214"
"00333698"	"04214"
"00333699"	"04214"
"00334111"	"04214"
"00334263"	"04214"
"00334264"	"04214"
"00334265"	"04214"
"00334266"	"04214"
"00334267"	"04214"
"00334268"	"04214"
"00334410"	"04214"
"00334570"	"04214"
"00335089"	"00198"
"00335090"	"00198"
"00335232"	"04214"
"00335427"	"04214"
"00335446"	"04214"
"00335447"	"04214"
"00335474"	"04214"
"00335475"	"04214"
"00335476"	"04214"
"00335477"	"04214"
"00335749"	"04214"
"00335750"	"04214"
"00335835"	"04214"
"00335836"	"04214"
"00358716"	"04214"
"00358931"	"04214"
"00358969"	"04214"
"00358971"	"04214"
"00358972"	"04214"
"00359206"	"04214"
"00359226"	"04214"
"00359237"	"04214"
"00359416"	"04214"
"00359418"	"04214"
"00359419"	"04214"
"00359420"	"04214"
"00359421"	"04214"
"00359422"	"04214"
"00359423"	"04214"
"00359424"	"04214"
"00359425"	"04214"
"00359426"	"04214"
"00359427"	"04214"
"00362679"	"04214"
"00362680"	"04214"
"00362681"	"04214"
"00362682"	"04214"
"00362683"	"04214"
"00362893"	"04214"
"00362895"	"04214"
"00363359"	"04214"
"00363598"	"04214"
"00363764"	"04267"
"00363765"	"04267"
"00363766"	"04267"
"00363767"	"04267"
"00363768"	"04267"
"00363769"	"04267"
"00363770"	"04267"
"00368955"	"04214"
"00372645"	"04214"
"00372687"	"04214"
"00372705"	"04214"
"00372707"	"04214"
"00373354"	"04214"
"00373478"	"04214"
"00373524"	"04214"
"00373870"	"04214"
"00373871"	"04214"
"00373903"	"04214"
"00375327"	"04214"
"00375424"	"04214"
"00375481"	"04214"
"00375482"	"04214"
"00375483"	"04214"
"00375484"	"04214"
"00375485"	"04214"
"00375486"	"04214"
"00375487"	"04214"
"00375488"	"04214"
"00375489"	"04214"
"00375490"	"04214"
"00375491"	"04214"
"00375492"	"04214"
"00375493"	"04214"
"00375494"	"04214"
"00375495"	"04214"
"00375496"	"04214"
"00375497"	"04214"
"00375498"	"04214"
"00375499"	"04214"
"00375500"	"04214"
"00375501"	"04214"
"00375502"	"04214"
"00375503"	"04214"
"00375504"	"04214"
"00375505"	"04214"
"00376754"	"04214"
"00376768"	"04214"
"00377232"	"04214"
"00377233"	"04214"
"00377369"	"04214"
"00377370"	"04214"
"00377537"	"04214"
"00377856"	"04214"
"00377857"	"04214"
"00377858"	"04214"
"00377859"	"04214"
"00377860"	"04214"
"00377861"	"04214"
"00377862"	"04214"
"00377863"	"04214"
"00377864"	"04214"
"00377865"	"04214"
"00377866"	"04214"
"00377867"	"04214"
"00377868"	"04214"
"00377869"	"04214"
"00377870"	"04214"
"00377942"	"04214"
"00379440"	"04214"
"00379441"	"04214"
"00379442"	"04214"
"00379548"	"05926"
"00379813"	"04214"
"00380096"	"04214"
"00380153"	"05926"
"00382219"	"04214"
"00382220"	"04214"
"00382221"	"04214"
"00382222"	"04214"
"00382223"	"04214"
"00382224"	"04214"
"00382225"	"04214"
"00382226"	"04214"
"00382227"	"04214"
"00382228"	"04214"
"00382229"	"04214"
"00382230"	"04214"
"00382231"	"04214"
"00382232"	"04214"
"00382233"	"04214"
"00382234"	"04214"
"00382235"	"04214"
"00382236"	"04214"
"00382474"	"04214"
"00382497"	"04214"
"00382498"	"04214"
"00382798"	"04214"
"00383410"	"04214"
"00383411"	"04214"
"00383520"	"04214"
"00384022"	"04214"
"00384272"	"04214"
"00384282"	"04214"
"00384357"	"04214"
"00384434"	"04214"
"00384438"	"04214"
"00384460"	"04214"
"00384480"	"04214"
"00384564"	"04214"
"00384565"	"04214"
"00384566"	"04214"
"00384567"	"04214"
"00384568"	"04214"
"00384569"	"04214"
"00384570"	"04214"
"00384571"	"04214"
"00384629"	"00198"
"00384630"	"00198"
"00386202"	"04214"
"00386206"	"04214"
"00386222"	"04214"
"00386243"	"04214"
"00386264"	"04214"
"00386688"	"04214"
"00386925"	"04214"
"00387388"	"04214"
"00387627"	"04214"
"00387639"	"04214"
"00387666"	"04214"
"00387667"	"04214"
"00387668"	"04214"
"00388799"	"04214"
"00388800"	"04214"
"00388809"	"04214"
"00388812"	"04214"
"00388813"	"04214"
"00388814"	"04214"
"00388825"	"04214"
"00388857"	"04214"
"00388880"	"04214"
"00388900"	"04214"
"00388906"	"04214"
"00388907"	"04214"
"00388920"	"04214"
"00388945"	"04214"
"00388965"	"04214"
"00388969"	"04214"
"00388976"	"04214"
"00388985"	"04214"
"00388988"	"04214"
"00388998"	"04214"
"00389004"	"04214"
"00389020"	"04214"
"00389021"	"04214"
"00389263"	"04214"
"00389468"	"04214"
"00389507"	"04214"
"00389603"	"04214"
"00390175"	"04214"
"00390176"	"04214"
"00390765"	"04214"
"00390799"	"04214"
"00390850"	"04214"
"00390855"	"04214"
"00390870"	"04214"
"00390873"	"04214"
"00390876"	"04214"
"00390906"	"04214"
"00390909"	"04214"
"00390930"	"04214"
"00390932"	"04214"
"00390963"	"04214"
"00390992"	"04214"
"00391137"	"04214"
"00391138"	"04214"
"00391139"	"04214"
"00391140"	"04214"
"00391141"	"04214"
"00391142"	"04214"
"00391143"	"04214"
"00391525"	"04214"
"00391526"	"04214"
"00391527"	"04214"
"00391528"	"04214"
"00391529"	"04214"
"00391530"	"04214"
"00392135"	"04214"
"00392160"	"04214"
"00392305"	"04214"
"00392306"	"04214"
"00392307"	"04214"
"00392576"	"04214"
"00393330"	"04214"
"00393331"	"04214"
"00393478"	"04214"
"00393570"	"04214"
"00393629"	"04214"
"00393653"	"04214"
"00393815"	"04214"
"00393830"	"04214"
"00393872"	"04214"
"00393900"	"04214"
"00395434"	"04214"
"00395435"	"04214"
"00395436"	"04214"
"00395437"	"04214"
"00395438"	"04214"
"00395439"	"04214"
"00395859"	"04214"
"00395903"	"04214"
"00395936"	"04214"
"00395946"	"04214"
"00396465"	"04214"
"00402491"	"04214"
"00402492"	"04214"
"00402493"	"04214"
"00402494"	"04214"
"00402495"	"04214"
"00402496"	"04214"
"00402497"	"04214"
"00402498"	"04214"
"00402499"	"04214"
"00402500"	"04214"
"00402501"	"04214"
"00402502"	"04214"
"00402503"	"04214"
"00402504"	"04214"
"00402505"	"04214"
"00402506"	"04214"
"00402507"	"04214"
"00402508"	"04214"
"00402509"	"04214"
"00402510"	"04214"
"00402511"	"04214"
"00402512"	"04214"
"00402513"	"04214"
"00402514"	"04214"
"00402515"	"04214"
"00402516"	"04214"
"00402517"	"04214"
"00402518"	"04214"
"00402519"	"04214"
"00402520"	"04214"
"00402521"	"04214"
"00402522"	"04214"
"00402523"	"04214"
"00402524"	"04214"
"00402525"	"04214"
"00402526"	"04214"
"00402527"	"04214"
"00402528"	"04214"
"00402529"	"04214"
"00402530"	"04214"
"00402531"	"04214"
"00402532"	"04214"
"00402535"	"04214"
"00402536"	"04214"
"00402537"	"04214"
"00402538"	"04214"
"00402539"	"04214"
"00402540"	"04214"
"00402541"	"04214"
"00402542"	"04214"
"00402543"	"04214"
"00402544"	"04214"
"00402545"	"04214"
"00402546"	"04214"
"00402547"	"04214"
"00402548"	"04214"
"00402549"	"04214"
"00402550"	"04214"
"00402551"	"04214"
"00402552"	"04214"
"00402553"	"04214"
"00402554"	"04214"
"00402555"	"04214"
"00402559"	"04214"
"00402560"	"04214"
"00402561"	"04214"
"00402562"	"04214"
"00402563"	"04214"
"00402564"	"04214"
"00402565"	"04214"
"00402566"	"04214"
"00402567"	"04214"
"00402568"	"04214"
"00402569"	"04214"
"00402570"	"04214"
"00402571"	"04214"
"00402572"	"04214"
"00402573"	"04214"
"00402574"	"04214"
"00402575"	"04214"
"00402576"	"04214"
"00402577"	"04214"
"00402578"	"04214"
"00402579"	"04214"
"00402580"	"04214"
"00402581"	"04214"
"00402582"	"04214"
"00402583"	"04214"
"00402584"	"04214"
"00402592"	"04214"
"00402593"	"04214"
"00402594"	"04214"
"00402595"	"04214"
"00402596"	"04214"
"00402597"	"04214"
"00402598"	"04214"
"00402599"	"04214"
"00402601"	"04214"
"00402602"	"04214"
"00402603"	"04214"
"00402604"	"04214"
"00402605"	"04214"
"00402606"	"04214"
"00402607"	"04214"
"00402608"	"04214"
"00402609"	"04214"
"00402610"	"04214"
"00402611"	"04214"
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"00426899"	"04214"
"00426900"	"04214"
"00426901"	"04214"
"00429662"	"00112"
"00429674"	"00112"
"00429685"	"00112"
"00429736"	"00112"
"00429998"	"00112"
"00430002"	"00112"
"00436602"	"01424"
"00444878"	"00296"
"00444879"	"00296"
"00446483"	"00296"
"00446484"	"00000"
"00446526"	"00296"
"00446527"	"00000"
"00446945"	"00198"
"00447034"	"00198"
"00447036"	"00198"
"00447037"	"00198"
"00447038"	"00198"
"00447039"	"00198"
"00447040"	"00198"
"00447041"	"00198"
"00447042"	"00198"
"00447043"	"00198"
"00447044"	"00198"
"00447151"	"00198"
"00447193"	"00198"
"00447303"	"00198"
"00447519"	"00198"
"00447700"	"00198"
"00450712"	"04249"
"00450713"	"04249"
"00450714"	"04249"
"00450715"	"04249"
"00450716"	"04249"
"00450717"	"04249"
"00450718"	"04249"
"00450719"	"04249"
"00450720"	"04249"
"00450766"	"04249"
"00451035"	"04249"
"00461127"	"04214"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00027, 00112, 00198, 00296, 00381, 01424, 01600, 03059, 03279, 04214, 04249, 04267, 05412, 05611, 05926
## Count = 1853
"{{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}}"
"0000026591"	"04214"	"00033162"	"00229"	"Unknown"	"4y"	"retinal degeneration, severe, early onset (EOSRD)"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000026599"	"04214"	"00033170"	"00229"	"Unknown"	"4y"	"retinal degeneration, severe, early onset (EOSRD)"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000078327"	"00381"	"00100088"	"01769"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000127891"	"03059"	"00155391"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Best"	""
"0000127892"	"03059"	"00155392"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Best"	""
"0000155465"	"04214"	"00207676"	"01244"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000155472"	"04214"	"00207682"	"01244"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000201809"	"00198"	"00263902"	"01807"	"Unknown"	""	"Macular degeneration (HP:0000608)"	""	""	""	""	""	""	""	""	""	""	""
"0000223412"	"00198"	"00295936"	"01807"	"Unknown"	""	"Macular degeneration (HP:0000608)"	""	""	""	""	""	""	""	""	""	""	""
"0000227930"	"00198"	"00300619"	"01164"	"Unknown"	""	"Abnormality of the eye (HP:0000478)"	""	""	""	""	""	""	""	""	""	""	""
"0000227932"	"00198"	"00300621"	"01164"	"Unknown"	""	"Abnormality of the retina (HP:0000479)"	""	""	""	""	""	""	""	""	""	""	""
"0000231759"	"05611"	"00305912"	"00006"	"Unknown"	"16y"	"no dysmorphisms; motor regression present (age onset unknown); 12y-single words; unsteady gait, clumsy, 12y-mostly wheelchair-bound; 12y-loss of fine motor skills; excessive drooling; 12y-lost continence; 15y-lower extremity dystonia; bilateral ptosis, macular degeneration; 12y-poor balance; Bracken Basics Concepts III Receptive and School Readiness Composite, Conner’s Parent Rating Scale, 6y-Child Behavior Checklist intellectual functioning at approximately 1-3 year level; 13y-epilepsy, spells that consist of falling that last about 1 min; EEG 6.5y-no electrographic or electroclinical sz, but photic stim produced photoconvulsive response, 13y-moderately abnormal - recorded photo myoclonic sz during intermittent photic stim, generalized interictal epileptiform features, sleep architecture was additionally somewhat disrupted with high-voltage rhythmic delta; MRI brain 6y-normal, 13y-normal, 15y-thin corpus callosum but overall within normal limits, MRI brain 13y-spine normal, 15y-spine normal"	""	""	""	""	""	""	""	""	"NDD;VMD2"	""	""
"0000231807"	"00198"	"00305959"	"01807"	"Unknown"	""	"Vitelliform-like macular lesions (HP:0007677)"	""	""	""	""	""	""	""	""	""	""	""
"0000233844"	"04214"	"00308417"	"00004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000233909"	"04214"	"00308481"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000233910"	"04214"	"00308482"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000233911"	"04214"	"00308483"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000233912"	"04214"	"00308484"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000233913"	"04214"	"00308485"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000233914"	"04214"	"00308486"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000233915"	"04214"	"00308487"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000234029"	"04214"	"00308601"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000234030"	"04214"	"00308602"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000234061"	"04214"	"00308633"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000234102"	"04214"	"00308674"	"00004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Best disease"	""
"0000234292"	"04214"	"00308972"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"BEST"	""
"0000234293"	"04214"	"00308973"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"BEST"	""
"0000234294"	"04214"	"00308974"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"BEST"	""
"0000234295"	"04214"	"00308975"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"BEST"	""
"0000234296"	"04214"	"00308976"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"BEST"	""
"0000234297"	"04214"	"00308977"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"BEST"	""
"0000234298"	"04214"	"00308978"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"BEST"	""
"0000234299"	"04214"	"00308979"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"maculopathy"	""
"0000234300"	"04214"	"00308980"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"BEST"	""
"0000234301"	"04214"	"00308981"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"BEST"	""
"0000234302"	"04214"	"00308982"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"BEST"	""
"0000234303"	"04214"	"00308983"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"BEST"	""
"0000234304"	"04214"	"00308984"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"BEST"	""
"0000234305"	"04214"	"00308985"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"BEST"	""
"0000243939"	"04214"	"00325452"	"00006"	"Unknown"	""	"macular dystrophy"	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000246418"	"04214"	"00328191"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000246480"	"04214"	"00328253"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000246653"	"04214"	"00328427"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"early-onset high myopia"	""
"0000246654"	"04214"	"00328428"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"late-onset high myopia"	""
"0000246655"	"04214"	"00328429"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"early-onset high myopia"	""
"0000250154"	"04214"	"00331963"	"00000"	"Familial, autosomal dominant"	"40y"	"reduced visual acuity; EOG reduced; scotopic ERG normal; photopic ERG borderline"	"36y"	""	"reduced visual acuity"	""	""	""	""	""	""	"macular dystrophy or cone-rod dystrophy"	""
"0000250155"	"04214"	"00331964"	"00000"	"Familial, autosomal recessive"	"34y"	"reduced visual acuity; EOG reduced; scotopic ERG normalreduced; photopic ERG borderline"	"18y"	""	"reduced visual acuity"	""	""	""	""	""	""	"macular dystrophy or cone-rod dystrophy"	""
"0000250156"	"04214"	"00331965"	"00000"	"Familial, autosomal dominant"	"24y"	"reduced visual acuity; scotopic ERG normalreduced; photopic ERG borderline"	"10y"	""	"reduced visual acuity"	""	""	""	""	""	""	"macular dystrophy or cone-rod dystrophy"	""
"0000250157"	"04214"	"00331966"	"00000"	"Familial, autosomal dominant"	"62y"	"reduced visual acuity; EOG reduced; scotopic ERG normal; photopic ERG normal"	"54y"	""	"reduced visual acuity"	""	""	""	""	""	""	"macular dystrophy or cone-rod dystrophy"	""
"0000250158"	"04214"	"00331967"	"00000"	"Familial, autosomal recessive"	"68y"	"reduced visual acuity; scotopic ERG normal; photopic ERG borderline"	"30y"	""	"reduced visual acuity"	""	""	""	""	""	""	"macular dystrophy or cone-rod dystrophy"	""
"0000250205"	"04214"	"00332014"	"00000"	"Familial, autosomal dominant"	"53y"	"reduced visual acuity; EOG borderline"	"50y"	""	"reduced visual acuity"	""	""	""	""	""	""	"macular dystrophy or cone-rod dystrophy"	""
"0000250206"	"04214"	"00332015"	"00000"	"Familial, autosomal dominant"	"16y"	"reduced visual acuity; EOG reduced"	""	""	"reduced visual acuity"	""	""	""	""	""	""	"macular dystrophy or cone-rod dystrophy"	""
"0000250207"	"04214"	"00332016"	"00000"	"Familial, autosomal dominant"	"58y"	"reduced visual acuity; EOG reduced; scotopic ERG normal; photopic ERG normal"	"48y"	""	"reduced visual acuity"	""	""	""	""	""	""	"macular dystrophy or cone-rod dystrophy"	""
"0000250208"	"04214"	"00332017"	"00000"	"Familial, autosomal dominant"	"55y"	"night vision problems; EOG reduced; scotopic ERG normal; photopic ERG normal"	"49y"	""	"night vision problems"	""	""	""	""	""	""	"macular dystrophy or cone-rod dystrophy"	""
"0000250209"	"04214"	"00332018"	"00000"	"Familial, autosomal dominant"	"73y"	"reduced visual acuity; EOG reduced; scotopic ERG normalreduced; photopic ERG borderline"	"72y"	""	"reduced visual acuity"	""	""	""	""	""	""	"macular dystrophy or cone-rod dystrophy"	""
"0000250210"	"04214"	"00332019"	"00000"	"Familial, autosomal dominant"	"78y"	"reduced visual acuity; EOG reduced; scotopic ERG normalreduced; photopic ERG borderline"	"70y"	""	"reduced visual acuity"	""	""	""	""	""	""	"macular dystrophy or cone-rod dystrophy"	""
"0000250211"	"04214"	"00332020"	"00000"	"Familial, autosomal dominant"	"64y"	"reduced visual acuity; EOG reduced"	"58y"	""	"reduced visual acuity"	""	""	""	""	""	""	"macular dystrophy or cone-rod dystrophy"	""
"0000250212"	"04214"	"00332021"	"00000"	"Familial, autosomal dominant"	"73y"	"reduced visual acuity; EOG reduced; scotopic ERG normal; photopic ERG normal"	"69y"	""	"reduced visual acuity"	""	""	""	""	""	""	"macular dystrophy or cone-rod dystrophy"	""
"0000250213"	"04214"	"00332022"	"00000"	"Familial, autosomal dominant"	"58y"	"metamorphopsia; EOG reduced"	"55y"	""	"metamorphopsia"	""	""	""	""	""	""	"macular dystrophy or cone-rod dystrophy"	""
"0000250214"	"04214"	"00332023"	"00000"	"Familial, autosomal dominant"	"50y"	"reduced visual acuity; EOG reduced; scotopic ERG normal; photopic ERG normal"	"47y"	""	"reduced visual acuity"	""	""	""	""	""	""	"macular dystrophy or cone-rod dystrophy"	""
"0000250215"	"04214"	"00332024"	"00000"	"Familial, autosomal dominant"	"48y"	"reduced visual acuity; EOG reduced; scotopic ERG normal; photopic ERG borderline"	"32y"	""	"reduced visual acuity"	""	""	""	""	""	""	"macular dystrophy or cone-rod dystrophy"	""
"0000250216"	"04214"	"00332025"	"00000"	"Familial, autosomal dominant"	"52y"	"reduced visual acuity; EOG reduced"	"50y"	""	"reduced visual acuity"	""	""	""	""	""	""	"macular dystrophy or cone-rod dystrophy"	""
"0000250217"	"04214"	"00332026"	"00000"	"Familial, autosomal dominant"	"49y"	"reduced visual acuity; EOG reduced; scotopic ERG normalreduced; photopic ERG borderline"	""	""	"reduced visual acuity"	""	""	""	""	""	""	"macular dystrophy or cone-rod dystrophy"	""
"0000250218"	"04214"	"00332027"	"00000"	"Familial, autosomal dominant"	"18y"	"reduced visual acuity; EOG reduced; scotopic ERG borderline; photopic ERG borderline"	"17y"	""	"reduced visual acuity"	""	""	""	""	""	""	"macular dystrophy or cone-rod dystrophy"	""
"0000250688"	"04214"	"00332504"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinal dystrophy (AR)"	""
"0000251671"	"00198"	"00333486"	"00006"	"Unknown"	"28y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"bilateral macular coloboma"	""
"0000251866"	"04214"	"00333682"	"00000"	"Familial, autosomal dominant"	"18y"	"clinical category IIB"	""	""	""	""	""	""	""	""	""	"Best disease"	""
"0000251867"	"04214"	"00333683"	"00000"	"Familial, autosomal dominant"	"65y"	"clinical category IIB"	""	""	""	""	""	""	""	""	""	"Best disease"	""
"0000251868"	"04214"	"00333684"	"00000"	"Familial, autosomal dominant"	"16y"	"clinical category IIB"	""	""	""	""	""	""	""	""	""	"Best disease"	""
"0000251869"	"04214"	"00333685"	"00000"	"Familial, autosomal dominant"	"15y"	"clinical category IIB"	""	""	""	""	""	""	""	""	""	"Best disease"	""
"0000251870"	"04214"	"00333686"	"00000"	"Familial, autosomal dominant"	"15y"	"clinical category IIB"	""	""	""	""	""	""	""	""	""	"Best disease"	""
"0000251871"	"04214"	"00333687"	"00000"	"Familial, autosomal dominant"	"21y"	"clinical category IIB"	""	""	""	""	""	""	""	""	""	"Best disease"	""
"0000251872"	"04214"	"00333688"	"00000"	"Familial, autosomal dominant"	"68y"	"clinical category IIB"	""	""	""	""	""	""	""	""	""	"Best disease"	""
"0000251873"	"04214"	"00333689"	"00000"	"Familial, autosomal dominant"	"27y"	"clinical category IIB"	""	""	""	""	""	""	""	""	""	"Best disease"	""
"0000251874"	"04214"	"00333690"	"00000"	"Familial, autosomal dominant"	"11y"	"clinical category IIB"	""	""	""	""	""	""	""	""	""	"Best disease"	""
"0000251875"	"04214"	"00333691"	"00000"	"Familial, autosomal dominant"	"45y"	"clinical category IIB"	""	""	""	""	""	""	""	""	""	"Best disease"	""
"0000251876"	"04214"	"00333692"	"00000"	"Familial, autosomal dominant"	"23y"	"clinical category IIB"	""	""	""	""	""	""	""	""	""	"Best disease"	""
"0000251877"	"04214"	"00333693"	"00000"	"Familial, autosomal dominant"	"56y"	"clinical category IIB"	""	""	""	""	""	""	""	""	""	"Best disease"	""
"0000251878"	"04214"	"00333694"	"00000"	"Familial, autosomal dominant"	"47y"	"clinical category IIB"	""	""	""	""	""	""	""	""	""	"Best disease"	""
"0000251879"	"04214"	"00333695"	"00000"	"Familial, autosomal dominant"	"71y"	"clinical category IIB"	""	""	""	""	""	""	""	""	""	"Best disease"	""
"0000251880"	"04214"	"00333696"	"00000"	"Familial, autosomal dominant"	"53y"	"clinical category IIB"	""	""	""	""	""	""	""	""	""	"Best disease"	""
"0000251881"	"04214"	"00333697"	"00000"	"Familial, autosomal dominant"	"57y"	"clinical category IIB"	""	""	""	""	""	""	""	""	""	"Best disease"	""
"0000251882"	"04214"	"00333698"	"00000"	"Familial, autosomal dominant"	"32y"	"clinical category IIB"	""	""	""	""	""	""	""	""	""	"Best disease"	""
"0000251883"	"04214"	"00333699"	"00000"	"Familial, autosomal dominant"	"9y"	"clinical category IIB"	""	""	""	""	""	""	""	""	""	"Best disease"	""
"0000252296"	"04214"	"00334111"	"00000"	"Familial, autosomal recessive"	"48y"	"clinical category II"	""	""	""	""	""	""	""	""	""	"macular dystrophy (withinflammatory overlay and subretinal fibrosis)"	""
"0000252448"	"04214"	"00334263"	"00000"	"Familial, autosomal recessive"	"51y"	"clinical category IIB"	""	""	""	""	""	""	""	""	""	"Best disease"	""
"0000252449"	"04214"	"00334264"	"00000"	"Familial, autosomal recessive"	"14y"	"clinical category IIB"	""	""	""	""	""	""	""	""	""	"Best disease (AR)"	""
"0000252450"	"04214"	"00334265"	"00000"	"Familial, autosomal recessive"	"6y"	"clinical category IIB"	""	""	""	""	""	""	""	""	""	"Best disease"	""
"0000252451"	"04214"	"00334266"	"00000"	"Familial, autosomal recessive"	"58y"	"clinical category IIB"	""	""	""	""	""	""	""	""	""	"Best disease (AR)"	""
"0000252452"	"04214"	"00334267"	"00000"	"Familial, autosomal recessive"	"31y"	"clinical category IIB"	""	""	""	""	""	""	""	""	""	"Best disease (AR)"	""
"0000252453"	"04214"	"00334268"	"00000"	"Familial, autosomal recessive"	"4y"	"clinical category IIB"	""	""	""	""	""	""	""	""	""	"Best disease (AR)"	""
"0000252499"	"04214"	"00334410"	"00000"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252610"	"04214"	"00334570"	"00000"	"Familial, autosomal recessive"	"66y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000252804"	"00198"	"00335089"	"00000"	"Unknown"	""	"39y-diagnosis visual impairment"	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000252805"	"00198"	"00335090"	"00000"	"Familial, autosomal dominant"	""	"32y-diagnosis visual impairment"	""	""	""	""	""	""	""	""	""	"macular dystrophy"	""
"0000252947"	"04214"	"00335232"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Bestrophinopathy (AR) vs Stargardt disease"	""
"0000253373"	"04214"	"00335427"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253391"	"04214"	"00335446"	"00006"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""
"0000253392"	"04214"	"00335447"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000253419"	"04214"	"00335474"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Best macular dystrophy"	""
"0000253420"	"04214"	"00335475"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Best macular dystrophy"	""
"0000253421"	"04214"	"00335476"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Best macular dystrophy"	""
"0000253422"	"04214"	"00335477"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Best macular dystrophy"	""
"0000253667"	"04214"	"00335749"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"macular cystoid oedema"	""
"0000253668"	"04214"	"00335750"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinopathy"	""
"0000253736"	"04214"	"00335835"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000253737"	"04214"	"00335836"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000253931"	"04214"	"00358716"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""
"0000254230"	"04214"	"00358931"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000254267"	"04214"	"00358969"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis"	""
"0000254269"	"04214"	"00358971"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Best macular dystrophy"	""
"0000254270"	"04214"	"00358972"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Best macular dystrophy"	""
"0000254503"	"04214"	"00359206"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa or rod-cone dystrophy"	""
"0000254523"	"04214"	"00359226"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease or macular dystrophy"	""
"0000254534"	"04214"	"00359237"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease or macular dystrophy"	""
"0000254660"	"04214"	"00359416"	"00008"	"Familial, autosomal dominant"	""	""	"48y"	""	""	""	""	""	""	""	""	"adult-onset vitelliform macular dystrophy"	""
"0000254662"	"04214"	"00359418"	"00008"	"Familial"	""	""	"60y"	""	""	""	""	""	""	""	""	"adult-onset vitelliform macular dystrophy"	""
"0000254663"	"04214"	"00359419"	"00008"	"Familial"	""	""	"69y"	""	""	""	""	""	""	""	""	"adult-onset vitelliform macular dystrophy"	""
"0000254664"	"04214"	"00359420"	"00008"	"Familial"	""	""	"70y"	""	""	""	""	""	""	""	""	"adult-onset vitelliform macular dystrophy"	""
"0000254665"	"04214"	"00359421"	"00008"	"Familial"	""	""	"70y"	""	""	""	""	""	""	""	""	"adult-onset vitelliform macular dystrophy"	""
"0000254666"	"04214"	"00359422"	"00008"	"Familial"	""	""	"71y"	""	""	""	""	""	""	""	""	"adult-onset vitelliform macular dystrophy"	""
"0000254667"	"04214"	"00359423"	"00008"	"Familial"	""	""	"73y"	""	""	""	""	""	""	""	""	"adult-onset vitelliform macular dystrophy"	""
"0000254668"	"04214"	"00359424"	"00008"	"Familial"	""	""	"78y"	""	""	""	""	""	""	""	""	"adult-onset vitelliform macular dystrophy"	""
"0000254669"	"04214"	"00359425"	"00008"	"Familial"	""	""	"80y"	""	""	""	""	""	""	""	""	"adult-onset vitelliform macular dystrophy"	""
"0000254670"	"04214"	"00359426"	"00008"	"Familial"	""	""	"81y"	""	""	""	""	""	""	""	""	"adult-onset vitelliform macular dystrophy"	""
"0000254671"	"04214"	"00359427"	"00008"	"Familial"	""	""	"86y"	""	""	""	""	""	""	""	""	"adult-onset vitelliform macular dystrophy"	""
"0000258259"	"04214"	"00362893"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000258261"	"04214"	"00362895"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"macular dystrophy"	""
"0000258724"	"04214"	"00363359"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"early onset high myopia"	""
"0000258948"	"04214"	"00363598"	"00000"	"Familial"	""	"non-syndromic"	""	""	""	""	""	""	""	""	""	"Goldmann Favre disease"	""
"0000259111"	"04267"	"00363764"	"00000"	"Unknown"	"72y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"primary angle‐closure glaucoma"	""
"0000259112"	"04267"	"00363765"	"00000"	"Unknown"	"47y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"primary angle‐closure glaucoma"	""
"0000259113"	"04267"	"00363766"	"00000"	"Unknown"	"20y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"primary angle‐closure glaucoma"	""
"0000259114"	"04267"	"00363767"	"00000"	"Unknown"	"68y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"primary angle‐closure glaucoma"	""
"0000259115"	"04267"	"00363768"	"00000"	"Unknown"	"44y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"primary angle‐closure glaucoma"	""
"0000259116"	"04267"	"00363769"	"00000"	"Unknown"	"34y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"primary open‐angle glaucoma"	""
"0000259117"	"04267"	"00363770"	"00000"	"Unknown"	"56y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"primary open‐angle glaucoma"	""
"0000264293"	"04214"	"00368955"	"01695"	"Unknown"	""	""	"<27y"	""	"unknown"	""	""	""	""	""	""	"decreased vision"	""
"0000267924"	"04214"	"00372645"	"00000"	"Isolated (sporadic)"	"28y"	"see paper; ..."	"13y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267966"	"04214"	"00372687"	"00000"	"Familial, X-linked"	"23y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267984"	"04214"	"00372705"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267986"	"04214"	"00372707"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000268630"	"04214"	"00373354"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000268754"	"04214"	"00373478"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000268800"	"04214"	"00373524"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Stargardt macular dystrophy"	""
"0000269079"	"04214"	"00373870"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Best disease"	""
"0000269080"	"04214"	"00373871"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Best disease"	""
"0000269112"	"04214"	"00373903"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"macular dystrophy"	""
"0000270541"	"04214"	"00375327"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270638"	"04214"	"00375424"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270695"	"04214"	"00375481"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Best macular dystrophy"	""
"0000270696"	"04214"	"00375482"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Best macular dystrophy"	""
"0000270697"	"04214"	"00375483"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Best macular dystrophy"	""
"0000270698"	"04214"	"00375484"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Best macular dystrophy"	""
"0000270699"	"04214"	"00375485"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Best macular dystrophy"	""
"0000270700"	"04214"	"00375486"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Best macular dystrophy"	""
"0000270701"	"04214"	"00375487"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Best macular dystrophy"	""
"0000270702"	"04214"	"00375488"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Best macular dystrophy"	""
"0000270703"	"04214"	"00375489"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Best macular dystrophy"	""
"0000270704"	"04214"	"00375490"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Best macular dystrophy"	""
"0000270705"	"04214"	"00375491"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Best macular dystrophy"	""
"0000270706"	"04214"	"00375492"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Best macular dystrophy"	""
"0000270707"	"04214"	"00375493"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Best macular dystrophy"	""
"0000270708"	"04214"	"00375494"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Best macular dystrophy"	""
"0000270709"	"04214"	"00375495"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Best macular dystrophy"	""
"0000270710"	"04214"	"00375496"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Best macular dystrophy"	""
"0000270711"	"04214"	"00375497"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Best macular dystrophy"	""
"0000270712"	"04214"	"00375498"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Best macular dystrophy"	""
"0000270713"	"04214"	"00375499"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Best macular dystrophy"	""
"0000270714"	"04214"	"00375500"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Best macular dystrophy"	""
"0000270715"	"04214"	"00375501"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Best macular dystrophy"	""
"0000270716"	"04214"	"00375502"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Best macular dystrophy"	""
"0000270717"	"04214"	"00375503"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Best macular dystrophy"	""
"0000270718"	"04214"	"00375504"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Best macular dystrophy"	""
"0000270719"	"04214"	"00375505"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Best macular dystrophy"	""
"0000271965"	"04214"	"00376754"	"00000"	"Familial, autosomal recessive"	"18y"	""	""	""	""	""	""	""	""	""	""	"Bone spicule pigmentary clumping in fundus, VA = 20/20–25, peripheral field constriction"	""
"0000271979"	"04214"	"00376768"	"00000"	"Familial, autosomal recessive"	"37y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000272390"	"04214"	"00377232"	"00000"	"Familial, autosomal dominant"	"71y"	"see paper"	"65y"	"65y"	""	""	""	""	""	""	"dystrophy, macular, vitelliform, type 2 (VMD-2 (Best macular dystrophy (BMD))"	"retinal disease"	""
"0000272391"	"04214"	"00377233"	"00000"	"Familial, autosomal dominant"	""	"see paper"	"30y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform, type 2 (VMD-2 (Best macular dystrophy (BMD))"	"retinal disease"	""
"0000272519"	"04214"	"00377369"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000272520"	"04214"	"00377370"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"RP50"	"retinitis pigmentosa"	""
"0000272687"	"04214"	"00377537"	"00000"	"Familial, autosomal dominant"	""	"see paper"	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000273002"	"04214"	"00377856"	"00000"	"Familial, autosomal dominant"	"5y"	""	"4y"	""	""	""	""	""	""	""	""	"juvenile vitelliform macular dystrophy"	""
"0000273003"	"04214"	"00377857"	"00000"	"Familial, autosomal dominant"	"12y"	""	"5y"	""	""	""	""	""	""	""	""	"juvenile vitelliform macular dystrophy"	""
"0000273004"	"04214"	"00377858"	"00000"	"Familial, autosomal dominant"	"6y"	""	"5y"	""	""	""	""	""	""	""	""	"juvenile vitelliform macular dystrophy"	""
"0000273005"	"04214"	"00377859"	"00000"	"Familial, autosomal dominant"	"29y"	""	"6y"	""	""	""	""	""	""	""	""	"juvenile vitelliform macular dystrophy"	""
"0000273006"	"04214"	"00377860"	"00000"	"Familial, autosomal dominant"	"13y"	""	"6y"	""	""	""	""	""	""	""	""	"juvenile vitelliform macular dystrophy"	""
"0000273007"	"04214"	"00377861"	"00000"	"Familial, autosomal dominant"	"7y"	""	"7y"	""	""	""	""	""	""	""	""	"juvenile vitelliform macular dystrophy"	""
"0000273008"	"04214"	"00377862"	"00000"	"Familial, autosomal dominant"	"12y"	""	"8y"	""	""	""	""	""	""	""	""	"juvenile vitelliform macular dystrophy"	""
"0000273009"	"04214"	"00377863"	"00000"	"Familial, autosomal dominant"	"10y"	""	"9y"	""	""	""	""	""	""	""	""	"juvenile vitelliform macular dystrophy"	""
"0000273010"	"04214"	"00377864"	"00000"	"Familial, autosomal dominant"	"11y"	""	"9y"	""	""	""	""	""	""	""	""	"juvenile vitelliform macular dystrophy"	""
"0000273011"	"04214"	"00377865"	"00000"	"Familial, autosomal dominant"	"31y"	""	"13y"	""	""	""	""	""	""	""	""	"juvenile vitelliform macular dystrophy"	""
"0000273012"	"04214"	"00377866"	"00000"	"Familial, autosomal dominant"	"29y"	""	"14y"	""	""	""	""	""	""	""	""	"juvenile vitelliform macular dystrophy"	""
"0000273013"	"04214"	"00377867"	"00000"	"Familial, autosomal dominant"	"32y"	""	"15y"	""	""	""	""	""	""	""	""	"juvenile vitelliform macular dystrophy"	""
"0000273014"	"04214"	"00377868"	"00000"	"Familial, autosomal dominant"	"62y"	""	"20y"	""	""	""	""	""	""	""	""	"juvenile vitelliform macular dystrophy"	""
"0000273015"	"04214"	"00377869"	"00000"	"Familial, autosomal dominant"	"43y"	""	"30y"	""	""	""	""	""	""	""	""	"juvenile vitelliform macular dystrophy"	""
"0000273016"	"04214"	"00377870"	"00000"	"Familial, autosomal dominant"	"36y"	""	"34y"	""	""	""	""	""	""	""	""	"juvenile vitelliform macular dystrophy"	""
"0000273088"	"04214"	"00377942"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Congenital Stationary Night Blindness"	""
"0000273313"	"04214"	"00379440"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"early-onset high myopia (eoHM)"	""
"0000273314"	"04214"	"00379441"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"late-onset high myopia (loHM)"	""
"0000273315"	"04214"	"00379442"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"early-onset high myopia (eoHM)"	""
"0000273421"	"05926"	"00379548"	"03508"	"Familial, autosomal recessive"	""	"HP:0001129, HP:0032037, HP:0000007, HP:0012508"	""	""	""	""	""	""	""	""	""	"Bestrophinopathy, autosomal recessive (ARB)"	""
"0000273667"	"04214"	"00379813"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000273950"	"04214"	"00380096"	"00000"	"Unknown"	"66y"	"Central geographic atrophy surrounded by small hard drusen extending to the periphery"	""	""	""	""	""	""	""	""	""	"age-related macular degeneration"	""
"0000274008"	"05926"	"00380153"	"03508"	"Familial, autosomal recessive"	""	"HP:0032037,\tHP:0001123"	""	""	""	""	""	""	""	""	""	"Bestrophinopathy, autosomal recessive (ARB)"	""
"0000276068"	"04214"	"00382219"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276069"	"04214"	"00382220"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""
"0000276070"	"04214"	"00382221"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""
"0000276071"	"04214"	"00382222"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt Disease"	""
"0000276072"	"04214"	"00382223"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""
"0000276073"	"04214"	"00382224"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""
"0000276074"	"04214"	"00382225"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""
"0000276075"	"04214"	"00382226"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""
"0000276076"	"04214"	"00382227"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""
"0000276077"	"04214"	"00382228"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Macular dystrophy unspecified"	""
"0000276078"	"04214"	"00382229"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""
"0000276079"	"04214"	"00382230"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""
"0000276080"	"04214"	"00382231"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""
"0000276081"	"04214"	"00382232"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Macular dystrophy unspecified"	""
"0000276082"	"04214"	"00382233"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Macular dystrophy unspecified"	""
"0000276083"	"04214"	"00382234"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""
"0000276084"	"04214"	"00382235"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Generalized retinal dystrophy (non-syndromic)"	""
"0000276085"	"04214"	"00382236"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""
"0000276323"	"04214"	"00382474"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276346"	"04214"	"00382497"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276347"	"04214"	"00382498"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt Disease"	""
"0000276654"	"04214"	"00382798"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277195"	"04214"	"00383410"	"00000"	"Familial, autosomal dominant"	""	""	"7y"	""	""	""	""	""	""	""	""	"Bestrophinopathy"	""
"0000277196"	"04214"	"00383411"	"00000"	"Familial, autosomal dominant"	""	""	"10y"	""	""	""	""	""	""	""	""	"Bestrophinopathy"	""
"0000277305"	"04214"	"00383520"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Best disease"	""
"0000277807"	"04214"	"00384022"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Cone-rod dystrophy"	""
"0000278057"	"04214"	"00384272"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"BEST"	""
"0000278067"	"04214"	"00384282"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"BEST"	""
"0000278142"	"04214"	"00384357"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"macular degeneration"	""
"0000278219"	"04214"	"00384434"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"family exudative vitreoretinopathy"	""
"0000278223"	"04214"	"00384438"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"macular degeneration"	""
"0000278245"	"04214"	"00384460"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"optical atrophy"	""
"0000278265"	"04214"	"00384480"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000278351"	"04214"	"00384564"	"00000"	"Familial, autosomal recessive"	"25y"	"hand movement"	""	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis"	""
"0000278352"	"04214"	"00384565"	"00000"	"Familial, autosomal recessive"	"14y"	"counting fingers"	""	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis"	""
"0000278353"	"04214"	"00384566"	"00000"	"Familial, autosomal recessive"	"28y"	"light perception"	""	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis"	""
"0000278354"	"04214"	"00384567"	"00000"	"Familial, autosomal recessive"	"45y"	"counting fingers"	""	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis"	""
"0000278355"	"04214"	"00384568"	"00000"	"Familial, autosomal recessive"	"42y"	"hand movement"	""	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis"	""
"0000278356"	"04214"	"00384569"	"00000"	"Familial, autosomal recessive"	"5y"	"hand movement"	""	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis"	""
"0000278357"	"04214"	"00384570"	"00000"	"Familial, autosomal recessive"	"40y"	"hand movement"	""	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis"	""
"0000278358"	"04214"	"00384571"	"00000"	"Familial, autosomal recessive"	"22y"	"light perception"	""	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis"	""
"0000278419"	"00198"	"00384629"	"00000"	"Unknown"	""	"Autosomal recessive bestrophinopathy (AR) and ichtiosis (AR)"	""	""	""	""	""	""	""	""	"Mixed"	"Autosomal recessive bestrophinopathy and ichtyosis"	""
"0000278420"	"00198"	"00384630"	"00000"	"Familial, autosomal recessive"	""	"Autosomal recessive bestrophinopathy (AR) and ichtiosis (AR)"	""	""	""	""	""	""	""	""	"Mixed"	"Autosomal recessive bestrophinopathy and ichtyosis"	""
"0000280005"	"04214"	"00386202"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Best macular dystrophy"	""
"0000280009"	"04214"	"00386206"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Best macular dystrophy"	""
"0000280025"	"04214"	"00386222"	"00000"	"Familial, autosomal recessive"	"33y"	""	""	"24y"	""	""	""	""	""	""	"Best macular dystrophy"	""	""
"0000280046"	"04214"	"00386243"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Best macular dystrophy"	""
"0000280067"	"04214"	"00386264"	"00000"	"Familial, autosomal recessive"	"41y"	""	""	"9y"	""	""	""	""	""	""	"Best macular dystrophy"	"Stargardt Disease"	""
"0000280488"	"04214"	"00386688"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280724"	"04214"	"00386925"	"00006"	"Familial, autosomal dominant"	"56y"	"see paper; ..."	""	"46y"	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000280951"	"04214"	"00387388"	"00000"	"Familial, autosomal dominant"	"68y"	"posterior subcapsular cataract, posterior pole  choroidal atrophy, negative family history, BCVA OD/OS: HM/HM"	"15y"	""	""	""	""	""	""	""	"Retinitis pigmentosa"	"Retinitis pigmentosa"	""
"0000281190"	"04214"	"00387627"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Recessive bestrophinopathy"	"Adult retinal dystrophy"	""
"0000281202"	"04214"	"00387639"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"Best disease"	"Childhood retinal disease"	""
"0000281229"	"04214"	"00387666"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Recessive bestrophinopathy"	"Childhood retinal disease"	""
"0000281230"	"04214"	"00387667"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Recessive bestrophinopathy"	"Childhood retinal disease"	""
"0000281231"	"04214"	"00387668"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Recessive bestrophinopathy"	"Childhood retinal disease"	""
"0000282340"	"04214"	"00388799"	"00000"	"Familial, autosomal dominant"	"36y"	"age at genetic diagnosis mentioned"	""	"27y"	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""	""
"0000282341"	"04214"	"00388800"	"00000"	"Familial, autosomal dominant"	"16y"	"age at genetic diagnosis mentioned"	""	"7y"	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""	""
"0000282350"	"04214"	"00388809"	"00000"	"Familial, autosomal dominant"	"35y"	"age at genetic diagnosis mentioned"	""	"26y"	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""	""
"0000282353"	"04214"	"00388812"	"00000"	"Familial, autosomal dominant"	"47y"	"age at genetic diagnosis mentioned"	""	"38y"	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""	""
"0000282354"	"04214"	"00388813"	"00000"	"Familial, autosomal dominant"	"68y"	"age at genetic diagnosis mentioned"	""	"59y"	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""	""
"0000282355"	"04214"	"00388814"	"00000"	"Familial, autosomal dominant"	"44y"	"age at genetic diagnosis mentioned"	""	"35y"	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""	""
"0000282366"	"04214"	"00388825"	"00000"	"Familial, autosomal dominant"	"46y"	"age at genetic diagnosis mentioned"	""	"37y"	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""	""
"0000282398"	"04214"	"00388857"	"00000"	"Familial, autosomal dominant"	"27y"	"age at genetic diagnosis mentioned"	""	"20y"	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""	""
"0000282421"	"04214"	"00388880"	"00000"	"Familial, autosomal dominant"	"34y"	"age at genetic diagnosis mentioned"	""	"27y"	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""	""
"0000282441"	"04214"	"00388900"	"00000"	"Familial, autosomal dominant"	"59y"	"age at genetic diagnosis mentioned"	""	"54y"	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""	""
"0000282447"	"04214"	"00388906"	"00000"	"Familial, autosomal dominant"	"75y"	"age at genetic diagnosis mentioned"	""	"70y"	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""	""
"0000282448"	"04214"	"00388907"	"00000"	"Familial, autosomal dominant"	"48y"	"age at genetic diagnosis mentioned"	""	"43y"	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""	""
"0000282461"	"04214"	"00388920"	"00000"	"Familial, autosomal dominant"	"31y"	"age at genetic diagnosis mentioned"	""	"26y"	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""	""
"0000282486"	"04214"	"00388945"	"00000"	"Familial, autosomal recessive"	"40y"	"age at genetic diagnosis mentioned"	""	"36y"	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""	""
"0000282506"	"04214"	"00388965"	"00000"	"Familial, autosomal dominant"	"17y"	"age at genetic diagnosis mentioned"	""	"16y"	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""	""
"0000282510"	"04214"	"00388969"	"00000"	"Familial, autosomal dominant"	"55y"	"age at genetic diagnosis mentioned"	""	"52y"	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""	""
"0000282517"	"04214"	"00388976"	"00000"	"Familial, autosomal dominant"	"59y"	"age at genetic diagnosis mentioned"	""	"56y"	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""	""
"0000282526"	"04214"	"00388985"	"00000"	"Familial, autosomal dominant"	"48y"	"age at genetic diagnosis mentioned"	""	"45y"	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""	""
"0000282529"	"04214"	"00388988"	"00000"	"Familial, autosomal recessive"	"28y"	"age at genetic diagnosis mentioned"	""	"26y"	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""	""
"0000282539"	"04214"	"00388998"	"00000"	"Familial, autosomal recessive"	"19y"	"age at genetic diagnosis mentioned"	""	"17y"	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""	""
"0000282545"	"04214"	"00389004"	"00000"	"Familial, autosomal dominant"	"53y"	"age at genetic diagnosis mentioned"	""	"52y"	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""	""
"0000282561"	"04214"	"00389020"	"00000"	"Familial, autosomal dominant"	"35y"	"age at genetic diagnosis mentioned"	""	"34y"	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""	""
"0000282562"	"04214"	"00389021"	"00000"	"Familial, autosomal dominant"	"66y"	"age at genetic diagnosis mentioned"	""	"66y"	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""	""
"0000282804"	"04214"	"00389263"	"00000"	"Familial, autosomal dominant"	"56y"	"age at genetic diagnosis mentioned"	""	"53y"	""	""	""	""	""	""	"macular dystrophy"	""	""
"0000283009"	"04214"	"00389468"	"00000"	"Familial, autosomal recessive"	"57y"	"age at genetic diagnosis mentioned"	""	"54y"	""	""	""	""	""	""	"macular dystrophy"	""	""
"0000283048"	"04214"	"00389507"	"00000"	"Familial, autosomal recessive"	"53y"	"age at genetic diagnosis mentioned"	""	"50y"	""	""	""	""	""	""	"macular dystrophy"	""	""
"0000283144"	"04214"	"00389603"	"00000"	"Familial, autosomal dominant"	"57y"	"age at genetic diagnosis mentioned"	""	"56y"	""	""	""	""	""	""	"macular dystrophy"	""	""
"0000283713"	"04214"	"00390175"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"retinal disease"	"retinal disease"	""
"0000283714"	"04214"	"00390176"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000284253"	"04214"	"00390765"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"vitelliform macular dystrophy (VMD)"	""
"0000284287"	"04214"	"00390799"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"vitelliform macular dystrophy (VMD)"	""
"0000284338"	"04214"	"00390850"	"00000"	"Familial, autosomal recessive"	"26y-30y"	""	""	""	""	""	""	""	""	""	""	"cone dystrophy (COD)"	""
"0000284343"	"04214"	"00390855"	"00000"	"Familial, autosomal recessive"	"16y-20y"	""	""	""	""	""	""	""	""	""	""	"Best disease (BEST)"	""
"0000284358"	"04214"	"00390870"	"00000"	"Unknown"	"16y-20y"	""	""	""	""	""	""	""	""	""	""	"Best disease (BEST)"	""
"0000284361"	"04214"	"00390873"	"00000"	"Unknown"	"31y-35y"	""	""	""	""	""	""	""	""	""	""	"macular dystrophy (MD)"	""
"0000284364"	"04214"	"00390876"	"00000"	"Familial, autosomal recessive"	"26y-30y"	""	""	""	""	""	""	""	""	""	""	"Best disease (BEST)"	""
"0000284394"	"04214"	"00390906"	"00000"	"Unknown"	"51y-55y"	""	""	""	""	""	""	""	""	""	""	"Best disease (BEST)"	""
"0000284397"	"04214"	"00390909"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Best disease (BEST)"	""
"0000284418"	"04214"	"00390930"	"00000"	"Unknown"	"56y-60y"	""	""	""	""	""	""	""	""	""	""	"Best disease (BEST)"	""
"0000284420"	"04214"	"00390932"	"00000"	"Unknown"	"46y-50y"	""	""	""	""	""	""	""	""	""	""	"Best disease (BEST)"	""
"0000284451"	"04214"	"00390963"	"00000"	"Unknown"	"41y-45y"	""	""	""	""	""	""	""	""	""	""	"Best disease (BEST)"	""
"0000284480"	"04214"	"00390992"	"00000"	"Unknown"	"41y-45y"	""	""	""	""	""	""	""	""	""	""	"Best disease (BEST)"	""
"0000284579"	"04214"	"00391137"	"00000"	"Unknown"	"18y"	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000284580"	"04214"	"00391138"	"00000"	"Unknown"	"47y"	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000284581"	"04214"	"00391139"	"00000"	"Unknown"	"50y"	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000284582"	"04214"	"00391140"	"00000"	"Unknown"	"52y"	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000284583"	"04214"	"00391141"	"00000"	"Unknown"	"59y"	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000284584"	"04214"	"00391142"	"00000"	"Unknown"	"23y"	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000284585"	"04214"	"00391143"	"00000"	"Unknown"	"41y"	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000284861"	"04214"	"00391525"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"macular dystrophy"	""
"0000284862"	"04214"	"00391526"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"macular dystrophy"	""
"0000284863"	"04214"	"00391527"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"macular dystrophy"	""
"0000284864"	"04214"	"00391528"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"macular dystrophy"	""
"0000284865"	"04214"	"00391529"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"macular dystrophy"	""
"0000284866"	"04214"	"00391530"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"macular dystrophy"	""
"0000285413"	"04214"	"00392135"	"00000"	"Unknown"	"20y"	"best corrected visual acuity right/left eye: 0.4/0.5, visual field: constricted 10deg both eyes (28/27), fundus: optic disc pallor, thin vessels, intraretinal pigment deposits., fundus autofluorescence:PC speekled hypoautofluorescence, optical coherence tomography: widespread thinnin"	""	"10y"	""	""	""	""	""	""	"RPN-301"	"rod-cone dystrophy"	""
"0000285438"	"04214"	"00392160"	"00000"	"Unknown"	"20y"	"best corrected visual acuity right/left eye: 0.4/0.5, visual field: constricted 10deg both eyes (28/27), fundus: optic disc pallor, thin vessels, intraretinal pigment deposits., fundus autofluorescence:PC speekled hypoautofluorescence, optical coherence tomography: widespread thinnin"	""	"10y"	""	""	""	""	""	""	"RPN-301"	"rod-cone dystrophy"	""
"0000285581"	"04214"	"00392305"	"00000"	"Familial, autosomal dominant"	"82y"	"impaired night vision, 50y - presumed Stargardt disease due to central vision loss, 66y her condition was re-labelled as adRD"	""	"19y"	""	""	""	""	""	""	"retinal dystrophy"	"retinitis pigmentosa"	""
"0000285582"	"04214"	"00392306"	"00000"	"Familial, autosomal dominant"	"61y"	"impaired night vision, retinitis pigmentosa diagnosis at 12y changed to Best at 20y, 39 years and underwent photorefractive keratectomy to correct left hypermetropic astigmatism"	""	"20y"	""	""	""	""	""	""	"Best disease"	"retinitis pigmentosa"	""
"0000285583"	"04214"	"00392307"	"00000"	"Familial, autosomal dominant"	"60y"	"clinical signs of RP without symptoms, electroretinography: responses reduced and delayed"	""	"58y"	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000285823"	"04214"	"00392576"	"00000"	"Familial, autosomal recessive"	""	"initial diagnosis of isolated (sporadic) cone-rod dystrophy redifined to retinitis pigmentosa"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	"cone-rod dystrophy"	""
"0000286571"	"04214"	"00393330"	"00000"	"Isolated (sporadic)"	"52y"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	"retinitis pigmentosa"	""
"0000286572"	"04214"	"00393331"	"00000"	"Isolated (sporadic)"	"53y"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	"retinitis pigmentosa"	""
"0000286684"	"04214"	"00393478"	"00000"	"Familial, autosomal recessive"	"56y"	""	""	""	""	""	""	""	""	""	""	"Best disease"	""
"0000286776"	"04214"	"00393570"	"00000"	"Familial, autosomal recessive"	"22y"	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000286835"	"04214"	"00393629"	"00000"	"Isolated (sporadic)"	"6y"	""	""	""	""	""	""	""	""	""	""	"Best disease"	""
"0000286859"	"04214"	"00393653"	"00000"	"Isolated (sporadic)"	"15y"	""	""	""	""	""	""	""	""	""	""	"Best disease"	""
"0000287021"	"04214"	"00393815"	"00000"	"Familial, autosomal dominant"	"61y"	""	""	""	""	""	""	""	""	""	""	"Best disease"	""
"0000287036"	"04214"	"00393830"	"00000"	"Isolated (sporadic)"	"53y"	""	""	""	""	""	""	""	""	""	""	"Best disease"	""
"0000287078"	"04214"	"00393872"	"00000"	"Familial, autosomal dominant"	"30y"	""	""	""	""	""	""	""	""	""	""	"Best disease"	""
"0000287106"	"04214"	"00393900"	"00000"	"Isolated (sporadic)"	"42y"	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000288633"	"04214"	"00395434"	"00000"	"Unknown"	"33y"	"bilateral pattern dystrophy; best corrected visual acuity right/left eye: at onset: 0/0.21, last visit: 0/0.21, family history: yes"	"38y"	""	""	""	""	""	""	""	"adult-onset foveomacular vitelliform dystrophy"	""	""
"0000288634"	"04214"	"00395435"	"00000"	"Unknown"	"78y"	"bilateral pattern dystrophy; best corrected visual acuity right/left eye: at onset: 0/0.1, last visit: 0.21/0.1, family history: no"	"83y"	""	""	""	""	""	""	""	"butterfly-shaped pattern dystrophy"	""	""
"0000288635"	"04214"	"00395436"	"00000"	"Unknown"	"21y"	"bilateral pattern dystrophy; best corrected visual acuity right/left eye: at onset: 0/0, last visit: 0/0, family history: no; choroidal neovascularization"	"41y"	""	""	""	""	""	""	""	"reticular dystrophy of the RPE"	""	""
"0000288636"	"04214"	"00395437"	"00000"	"Unknown"	"38y"	"bilateral pattern dystrophy; best corrected visual acuity right/left eye: at onset: 0.3/0.22, last visit: /, family history: yes"	"46y"	""	""	""	""	""	""	""	"adult-onset foveomacular vitelliform dystrophy"	""	""
"0000288637"	"04214"	"00395438"	"00000"	"Unknown"	"54y"	"bilateral pattern dystrophy; best corrected visual acuity right/left eye: at onset: 0.4/0.3, last visit: /, family history: no"	"57y"	""	""	""	""	""	""	""	"adult-onset foveomacular vitelliform dystrophy"	""	""
"0000288638"	"04214"	"00395439"	"00000"	"Unknown"	"69y"	"unilateral pattern dystrophy; best corrected visual acuity right/left eye: at onset: 0.4/0.05, last visit: /, family history: no"	"69y"	""	""	""	""	""	""	""	"butterfly-shaped pattern dystrophy"	""	""
"0000289021"	"04214"	"00395859"	"00000"	"Unknown"	"21y1m"	""	"15y"	""	""	""	""	""	""	""	"macular dystrophy"	""	""
"0000289065"	"04214"	"00395903"	"00000"	"Unknown"	"47y5m"	""	"15y"	""	""	""	""	""	""	""	"vitreoretinochoroidopathy (VIRC)"	""	""
"0000289098"	"04214"	"00395936"	"00000"	"Unknown"	"79y10m"	""	"60y"	""	""	""	""	""	""	""	"macular dystrophy"	""	""
"0000289108"	"04214"	"00395946"	"00000"	"Unknown"	"49y11m"	""	"48y"	""	""	""	""	""	""	""	"macular dystrophy"	""	""
"0000289626"	"04214"	"00396465"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000295253"	"04214"	"00402491"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295254"	"04214"	"00402492"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295255"	"04214"	"00402493"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295256"	"04214"	"00402494"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295257"	"04214"	"00402495"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295258"	"04214"	"00402496"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295259"	"04214"	"00402497"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295260"	"04214"	"00402498"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295261"	"04214"	"00402499"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295262"	"04214"	"00402500"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295263"	"04214"	"00402501"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295264"	"04214"	"00402502"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295265"	"04214"	"00402503"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295266"	"04214"	"00402504"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295267"	"04214"	"00402505"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295268"	"04214"	"00402506"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295269"	"04214"	"00402507"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295270"	"04214"	"00402508"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295271"	"04214"	"00402509"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295272"	"04214"	"00402510"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295273"	"04214"	"00402511"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295274"	"04214"	"00402512"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295275"	"04214"	"00402513"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295276"	"04214"	"00402514"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295277"	"04214"	"00402515"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295278"	"04214"	"00402516"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295279"	"04214"	"00402517"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295280"	"04214"	"00402518"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295281"	"04214"	"00402519"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295282"	"04214"	"00402520"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295283"	"04214"	"00402521"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295284"	"04214"	"00402522"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295285"	"04214"	"00402523"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295286"	"04214"	"00402524"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295287"	"04214"	"00402525"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295288"	"04214"	"00402526"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295289"	"04214"	"00402527"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295290"	"04214"	"00402528"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295291"	"04214"	"00402529"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295292"	"04214"	"00402530"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295293"	"04214"	"00402531"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295294"	"04214"	"00402532"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295296"	"04214"	"00402535"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295297"	"04214"	"00402536"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295298"	"04214"	"00402537"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295299"	"04214"	"00402538"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295300"	"04214"	"00402539"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295301"	"04214"	"00402540"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295302"	"04214"	"00402541"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295303"	"04214"	"00402542"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295304"	"04214"	"00402543"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295305"	"04214"	"00402544"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295306"	"04214"	"00402545"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295307"	"04214"	"00402546"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295308"	"04214"	"00402547"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295309"	"04214"	"00402548"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295310"	"04214"	"00402549"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295311"	"04214"	"00402550"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295312"	"04214"	"00402551"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295313"	"04214"	"00402552"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295314"	"04214"	"00402553"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295315"	"04214"	"00402554"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295316"	"04214"	"00402555"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295322"	"04214"	"00402559"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295323"	"04214"	"00402560"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295324"	"04214"	"00402561"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295325"	"04214"	"00402562"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295326"	"04214"	"00402563"	"00000"	"Familial, autosomal dominant"	""	"asymptomatic; however, electrooculogram (EOG) recordings were abnormal"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295327"	"04214"	"00402564"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295328"	"04214"	"00402565"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295329"	"04214"	"00402566"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295330"	"04214"	"00402567"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295331"	"04214"	"00402568"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295332"	"04214"	"00402569"	"00000"	"Familial, autosomal dominant"	""	"asymptomatic; however, electrooculogram (EOG) recordings were abnormal"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295333"	"04214"	"00402570"	"00000"	"Familial, autosomal dominant"	""	""	""	"12y"	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295334"	"04214"	"00402571"	"00000"	"Familial, autosomal dominant"	""	"asymptomatic; however, electrooculogram (EOG) was not performed"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295335"	"04214"	"00402572"	"00000"	"Familial, autosomal dominant"	""	""	""	"8y"	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295336"	"04214"	"00402573"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295337"	"04214"	"00402574"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295338"	"04214"	"00402575"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295339"	"04214"	"00402576"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295340"	"04214"	"00402577"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295341"	"04214"	"00402578"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295342"	"04214"	"00402579"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295343"	"04214"	"00402580"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295344"	"04214"	"00402581"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295345"	"04214"	"00402582"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295346"	"04214"	"00402583"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295347"	"04214"	"00402584"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295355"	"04214"	"00402592"	"00000"	"Familial, autosomal dominant"	"73y"	"visual acuity at ascertainment: 20/60, 20/300, phenotype: Best disease"	""	"20y"	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295356"	"04214"	"00402593"	"00000"	"Familial, autosomal dominant"	"70y"	"visual acuity at ascertainment: 20/200, 20/60, phenotype: Best disease"	""	"50y"	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295357"	"04214"	"00402594"	"00000"	"Familial, autosomal dominant"	"61y"	"visual acuity at ascertainment: 20/50, 20/640, phenotype: retinal pigment epithelium mottling right eye, bull���s-eye maculopathy"	""	"57y"	""	""	""	""	""	""	"\"\"bull\'s eye\"\" maculopathy"	""	""
"0000295358"	"04214"	"00402595"	"00000"	"Familial, autosomal dominant"	"60y"	"visual acuity at ascertainment: 20/32, 20/20, phenotype: adult vitelliform right eye, retinal pigment epithelium atrophy  left eye"	""	"54y"	""	""	""	""	""	""	"adult vitelliform maculopathy"	""	""
"0000295359"	"04214"	"00402596"	"00000"	"Unknown"	"67y"	"visual acuity at ascertainment: 20/25, 20/25, phenotype: drusenoid both eyes; grade 3 b"	""	"57y"	""	""	""	""	""	""	"macular degeneration, age-related (ARMD)"	""	""
"0000295360"	"04214"	"00402597"	"00000"	"Unknown"	"61y"	"visual acuity at ascertainment: 20/25, 20/32, phenotype: hard drusen right eye, soft  left eye; grade 3"	""	"57y"	""	""	""	""	""	""	"macular degeneration, age-related (ARMD)"	""	""
"0000295361"	"04214"	"00402598"	"00000"	"Unknown"	"75y"	"visual acuity at ascertainment: 20/40, 20/200, phenotype: soft drusen and geographic atrophy; grade 4"	""	"66y"	""	""	""	""	""	""	"macular degeneration, age-related (ARMD)"	""	""
"0000295362"	"04214"	"00402599"	"00000"	"Familial, autosomal dominant"	"4y"	"funduscopy: typical egg-yolk macular lesion and accumulation of lipofuscin in the retinal pigment epithelium, visual acuity: 20/30 in both eyes, hypermetropia of 4.5 diopters, electroretinography: normal; scanning laser ophthalmoscopy: marked increase in fundus fluorescence, possibly because of the abnormal deposition of lipofuscin; no fundus abnormalities were found in parents, no family history of Best disease"	""	"4y"	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295364"	"04214"	"00402601"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295365"	"04214"	"00402602"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295366"	"04214"	"00402603"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295367"	"04214"	"00402604"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295368"	"04214"	"00402605"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295369"	"04214"	"00402606"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295370"	"04214"	"00402607"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295371"	"04214"	"00402608"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295372"	"04214"	"00402609"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295373"	"04214"	"00402610"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295374"	"04214"	"00402611"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295375"	"04214"	"00402612"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295376"	"04214"	"00402613"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295377"	"04214"	"00402614"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295378"	"04214"	"00402615"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295379"	"04214"	"00402616"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295380"	"04214"	"00402617"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295381"	"04214"	"00402618"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295382"	"04214"	"00402619"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295383"	"04214"	"00402620"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295384"	"04214"	"00402621"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295385"	"04214"	"00402622"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295386"	"04214"	"00402623"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295387"	"04214"	"00402624"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295388"	"04214"	"00402625"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295389"	"04214"	"00402626"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295390"	"04214"	"00402627"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295391"	"04214"	"00402628"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295392"	"04214"	"00402629"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295393"	"04214"	"00402630"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295394"	"04214"	"00402631"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295395"	"04214"	"00402632"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295396"	"04214"	"00402633"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295397"	"04214"	"00402634"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295398"	"04214"	"00402635"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295399"	"04214"	"00402636"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295400"	"04214"	"00402637"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295401"	"04214"	"00402638"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295402"	"04214"	"00402639"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295403"	"04214"	"00402640"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295404"	"04214"	"00402641"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295405"	"04214"	"00402642"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295406"	"04214"	"00402643"	"00000"	"Unknown"	"83y"	"Drusen and choroidal neovascular membranes, visual acuity both eyes 20/400 both eyes"	""	""	""	""	""	""	""	""	"macular degeneration, age-related (ARMD)"	""	""
"0000295407"	"04214"	"00402644"	"00000"	"Unknown"	"86y"	"Geographic atrophy both eyes, visual acuity 20/400 OD, 20/70 OS"	""	""	""	""	""	""	""	""	"macular degeneration, age-related (ARMD)"	""	""
"0000295408"	"04214"	"00402645"	"00000"	"Unknown"	"69y"	"Cuticular drusen both eyes, (EOG 2.16 OD, 1.85 OS), visual acuity right_left eye: 20/30_20/20"	""	""	""	""	""	""	""	""	"macular degeneration, age-related (ARMD)"	""	""
"0000295409"	"04214"	"00402646"	"00000"	"Unknown"	"78y"	"Drusen right eye, drusen and an occult choroidal neovascular membrane left eye (EOG 1.0 both eyes), visual acuity 20/25 both eyes"	""	""	""	""	""	""	""	""	"macular degeneration, age-related (ARMD)"	""	""
"0000295410"	"04214"	"00402647"	"00000"	"Unknown"	"87y"	"Choroidal neovascular membrane right eye, disciform scar right eye 20/200_20/100"	""	""	""	""	""	""	""	""	"macular degeneration, age-related (ARMD)"	""	""
"0000295411"	"04214"	"00402648"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295412"	"04214"	"00402649"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295413"	"04214"	"00402650"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295414"	"04214"	"00402651"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295415"	"04214"	"00402652"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295416"	"04214"	"00402653"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295417"	"04214"	"00402654"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295418"	"04214"	"00402655"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295419"	"04214"	"00402656"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295420"	"04214"	"00402657"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295421"	"04214"	"00402658"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295422"	"04214"	"00402659"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295423"	"04214"	"00402660"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform, adult (VMD)"	""	""
"0000295424"	"04214"	"00402661"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295425"	"04214"	"00402662"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295426"	"04214"	"00402663"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295427"	"04214"	"00402664"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295428"	"04214"	"00402665"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295429"	"04214"	"00402666"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295430"	"04214"	"00402667"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform, adult (VMD)"	""	""
"0000295431"	"04214"	"00402668"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295432"	"04214"	"00402669"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295433"	"04214"	"00402670"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295434"	"04214"	"00402671"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295435"	"04214"	"00402672"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295436"	"04214"	"00402673"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295437"	"04214"	"00402674"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295438"	"04214"	"00402675"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295439"	"04214"	"00402676"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295440"	"04214"	"00402677"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295441"	"04214"	"00402678"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295442"	"04214"	"00402679"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295443"	"04214"	"00402680"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295444"	"04214"	"00402681"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform, adult (VMD)"	""	""
"0000295445"	"04214"	"00402682"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform, adult (VMD)"	""	""
"0000295446"	"04214"	"00402683"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform, adult (VMD)"	""	""
"0000295447"	"04214"	"00402684"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform, adult (VMD)"	""	""
"0000295448"	"04214"	"00402685"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform, adult (VMD)"	""	""
"0000295449"	"04214"	"00402686"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295450"	"04214"	"00402687"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295451"	"04214"	"00402688"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295452"	"04214"	"00402689"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295453"	"04214"	"00402690"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295454"	"04214"	"00402691"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295455"	"04214"	"00402692"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295456"	"04214"	"00402693"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295457"	"04214"	"00402694"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295458"	"04214"	"00402695"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295459"	"04214"	"00402696"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295460"	"04214"	"00402697"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295461"	"04214"	"00402698"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295462"	"04214"	"00402699"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295463"	"04214"	"00402700"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform (VMD)"	""	""
"0000295464"	"04214"	"00402701"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform, adult (VMD)"	""	""
"0000295465"	"04214"	"00402702"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295466"	"04214"	"00402703"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295467"	"04214"	"00402704"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295468"	"04214"	"00402705"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295469"	"04214"	"00402706"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295470"	"04214"	"00402707"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295471"	"04214"	"00402708"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295472"	"04214"	"00402709"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295473"	"04214"	"00402710"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295474"	"04214"	"00402711"	"00000"	"Familial, autosomal dominant"	""	"asymptomatic at age 72y"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295475"	"04214"	"00402712"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295476"	"04214"	"00402713"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295477"	"04214"	"00402714"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295478"	"04214"	"00402715"	"00000"	"Familial, autosomal dominant"	""	"multiple vitelliform discs"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295479"	"04214"	"00402716"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295480"	"04214"	"00402717"	"00000"	"Familial, autosomal dominant"	"78y"	"military service (age 20): visual acuity: 0.3 right eye no visual problems left eye, manifested visual problems at age 55 years, visual failure in the left eye as well, present visual acuity: right eye: 0.1 left eye: 0.2 ,atrophic macular degeneration both eyes; Arden ratio right/left eye: 1.4/1.4"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295481"	"04214"	"00402718"	"00000"	"Familial, autosomal dominant"	"76y"	"military service (age 20): visual acuity: 0.8-1.0 both eyes, manifested visual problems at age 40-50years, visual failure both eyes, present visual acuity: right eye: 0.1 left eye: 0.3 ,atrophic macular degeneration both eyes; Arden ratio right/left eye: 1.2/1.2"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295482"	"04214"	"00402719"	"00000"	"Familial, autosomal dominant"	"75y"	"about 10 years old: reading problems at school, manifested visual problems in childhood, present visual acuity: right eye: 0.1 left eye: 0.15 ,atrophic macular degeneration both eyes; Arden ratio right/left eye: 0.7/0.9"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295483"	"04214"	"00402720"	"00000"	"Familial, autosomal dominant"	"40y"	"no visual problems up to the age of 39 years, manifested visual problems at age 39 years, metamorphopsia in the left eye, present visual acuity: right eye: 1.0 left eye: 1.0, right eye: a few atrophic drusen temporal to the fovea, left eye: a small pigment epithelium detachment temporal to the fovea; Arden ratio right/left eye: 1.1/1.0"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295484"	"04214"	"00402721"	"00000"	"Familial, autosomal dominant"	"11y"	"no visual problems, normal, present visual acuity: right eye: 1.0 left eye: 1.0; Arden ratio right/left eye: 1.0/1.0; asymptomatic (probably due to young age)"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295485"	"04214"	"00402722"	"00000"	"Isolated (sporadic)"	"72y"	"visual acuity: 20/25 both eyes, clinical features in the right eye: soft, confluent drusen evolving into retinal pigment epithelial detachment, and ultimately into geographic atrophy, clinical features in the leftt eye: soft, confluent drusen evolving into retinal pigment epithelial detachment, fluorescein angiogram results: hyperfluorescence related to drusen and retinal pigment epithelial detachment, no signs of cnvm, electro-oculogram results: 3.2/3.4"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295486"	"04214"	"00402723"	"00000"	"Isolated (sporadic)"	"76y"	"visual acuity: 20/40 right eye, 20/250 left eye , clinical features in the right eye: numerous soft drusen with central area of geographic atrophy, clinical features in the left eye: numerous soft drusen with central area of geographic atrophy, fluorescein angiogram results: hyperfluorescence consistent with staining of the drusen and window defect in areas of geographic atrophy electrooculogram results: 3.3/2.5"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295487"	"04214"	"00402724"	"00000"	"Isolated (sporadic)"	"61y"	"visual acuity: 20/25 right eye, 20/32 left eye clinical features in the right eye: small and intermediate drusen in both the macula and extramacular area , clinical features in the left eye: soft drusen and central retinal pigment epithelium alterations in addition to extramacular drusen, fluorescein angiogram results: hyperfluorescence consistent with staining of the drusen and window defects consistent with retinal pigment epithelium atrophy, electrooculogram results: 2.0/2.1"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295488"	"04214"	"00402725"	"00000"	"Isolated (sporadic)"	"77y"	"visual acuity: 20/50 right eye, 20/640 left eye, clinical features in the right eye:  subtle annular area of retinal pigment epithelial depigmentation,  clinical features in the left eye: annular area of retinal pigment epithelial depigmentation in a bull\'s-eye pattern,  fluorescein angiogram results: central area of hypofluorescence with a surrounding ring of hyperfluorescence in the left eye electrooculogram results: not available (patient deceased)"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295489"	"04214"	"00402726"	"00000"	"Familial, autosomal dominant"	"60y"	"visual acuity: 20/32 right eye, 20/20 left eye, clinical features in the right eye: symmetric, slightly elevated yellow lesion with central hyperpigmentation consistent with adult-onset foveomacular vitelliform dystrophy, with scattered drusen,  clinical features in the left eye: numerous drusen with scattered areas of retinal pigment epithelial alteration,  fluorescein angiogram results: ring of hyperfluorescence with hypofluorescence centrally and late staining of the central vitelliform-like lesion, electrooculogram results: 1.01/1.5"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295491"	"04214"	"00402729"	"00000"	"Familial, autosomal dominant"	"12y"	"initial acuity: 20/50, worst acuity: 20/60, final acuity: 20/30, follow-up, months: 9, final lesion: smaller vitelliform lesion"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295492"	"04214"	"00402730"	"00000"	"Familial, autosomal dominant"	"11y"	"right eye initial acuity: 20/40, worst acuity: 20/50, final acuity: 20/20, follow-up, months: 72, final lesion: gliotic nodule; left eye initial acuity: 20/80, worst acuity: 20/200 (postop), final acuity: 20/16, follow-up, months: 80, final lesion: retinal pigment epithelium atrophy"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295493"	"04214"	"00402731"	"00000"	"Familial, autosomal dominant"	"15y"	"initial acuity: 20/400, worst acuity: NA, final acuity: 20/400, follow-up, months: 0, final lesion: heme and gliosis"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295494"	"04214"	"00402732"	"00000"	"Familial, autosomal dominant"	"9y"	"initial acuity: 20/125, worst acuity: 20/125, final acuity: 20/80, follow-up, months: 5, final lesion: gliotic nodule"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295495"	"04214"	"00402733"	"00000"	"Familial, autosomal dominant"	"20y"	"initial acuity: 20/100, worst acuity: NA, final acuity: 20/100, follow-up, months: 0, final lesion: heme"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295496"	"04214"	"00402734"	"00000"	"Familial, autosomal dominant"	"13y"	"initial acuity: 20/100, worst acuity: 20/200, final acuity: 20/50, follow-up, months: 32, final lesion: gliotic nodule"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295497"	"04214"	"00402735"	"00000"	"Familial, autosomal dominant"	"9y"	"initial acuity: 20/30, worst acuity: 20/200, final acuity: 20/50, follow-up, months: 65, final lesion: gliotic nodule"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295498"	"04214"	"00402736"	"00000"	"Familial, autosomal dominant"	"23y"	"initial acuity: 20/40, worst acuity: 20/40, final acuity: 20/25, follow-up, months: 1, final lesion: gliotic nodule"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295499"	"04214"	"00402738"	"00000"	"Familial, autosomal dominant"	"20y"	"maculae of both eyes: symmetrical vitelliform cyst-like lesions, and were apparently in transition to the \"\"scrambled egg\"\" stage; optic disc, retinal vessels and peripheral retina: normal appearance, no abnormalities in the anterior segments; bright flash, photopic, and scotopic electroretinograms within normal limits; electro-oculogram: reduced Arden ratio or light-to-dark trough (L/D) ratio of 1.0 in both eyes; no remarkable changes in the fundus appearance were observed during a nine-year follow-up"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295500"	"04214"	"00402739"	"00000"	"Familial, autosomal dominant"	"47y"	"no abnormalities were found in the anterior segments, media, or fundus; electro-oculogram: reduced L/D ratio (1.0) in both eyes; individual remained asymptomatic thereafter for at least three years."	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295501"	"04214"	"00402740"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295502"	"04214"	"00402741"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295503"	"04214"	"00402742"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295504"	"04214"	"00402744"	"00000"	"Familial, autosomal dominant"	"61y"	"best corrected visual acuity and clinical stage right/left eye: 20/30 / 20/80, atrophic / atrophic"	""	""	""	"anna_tracewska"	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295505"	"04214"	"00402745"	"00000"	"Familial, autosomal dominant"	"20y"	"best corrected visual acuity and clinical stage right/left eye: 20/30 / 20/20, vitelliform / previtelliform"	""	""	""	"anna_tracewska"	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295506"	"04214"	"00402746"	"00000"	"Familial, autosomal dominant"	"47y"	"best corrected visual acuity and clinical stage right/left eye: 20/200 / 20/30, atrophic / vitelliform"	""	""	""	"anna_tracewska"	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295507"	"04214"	"00402747"	"00000"	"Familial, autosomal dominant"	"26y"	"best corrected visual acuity and clinical stage right/left eye: 20/200 / 20/20, vitelliruptive / pseudohypopyon"	""	""	""	"anna_tracewska"	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295508"	"04214"	"00402748"	"00000"	"Familial, autosomal dominant"	"23y"	"best corrected visual acuity and clinical stage right/left eye: 20/20 / 20/200, vitelliform / vitelliruptive"	""	""	""	"anna_tracewska"	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295509"	"04214"	"00402749"	"00000"	"Familial, autosomal dominant"	"35y"	"best corrected visual acuity and clinical stage right/left eye: 20/20 / 20/20, previtelliform / previtelliform"	""	""	""	"anna_tracewska"	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295510"	"04214"	"00402750"	"00000"	"Familial, autosomal dominant"	"34y"	"best corrected visual acuity and clinical stage right/left eye: 20/30 / 20/100, vitelliruptive / vitelliruptive"	""	""	""	"anna_tracewska"	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295511"	"04214"	"00402751"	"00000"	"Familial, autosomal dominant"	"31y"	"best corrected visual acuity and clinical stage right/left eye: 20/20 / 20/30, previtelliform / previtelliform"	""	""	""	"anna_tracewska"	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295512"	"04214"	"00402752"	"00000"	"Familial, autosomal dominant"	"33y"	"best corrected visual acuity and clinical stage right/left eye: 20/20 / 20/20, vitelliruptive / vitelliruptive"	""	""	""	"anna_tracewska"	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295513"	"04214"	"00402753"	"00000"	"Familial, autosomal dominant"	"05y"	"best corrected visual acuity and clinical stage right/left eye: 20/60 / 20/20, vitelliruptive / vitelliruptive"	""	""	""	"anna_tracewska"	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295514"	"04214"	"00402754"	"00000"	"Familial, autosomal dominant"	"82y"	"visual acuity at ascertainment right eye, left eye: 20/300, 20/200, right eye, scar with atrophy, yellow deposit, and retinal pigment epithelium proliferation, left eye, scar with focal, yellow deposits, both eyes, drusen in all four quadrants"	""	"44y"	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295515"	"04214"	"00402755"	"00000"	"Familial, autosomal dominant"	"75y"	"visual acuity at ascertainment right eye, left eye: 20/100, 20/300, electrooculogram results: right eye, 1.37 left eye, 1.63, right eye, scar with yellow deposit and retinal pigment epithelium proliferation, left eye, focal yellow deposits, both eyes, drusen temporal to macula"	""	"16y"	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295516"	"04214"	"00402756"	"00000"	"Familial, autosomal dominant"	"69y"	"visual acuity at ascertainment right eye, left eye: 20/70, 20/60, both eyes, scar with atrophy and focal yellow deposits, drusen in all four quadrants"	""	"38y"	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295517"	"04214"	"00402757"	"00000"	"Familial, autosomal dominant"	"51y"	"visual acuity at ascertainment right eye, left eye: 20/60 both eyes, right eye, focal yellow deposits and retinal pigment epithelium thinning, left eye, serous macular detachment with small yellow deposit"	""	"42y"	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295518"	"04214"	"00402758"	"00000"	"Familial, autosomal dominant"	"53y"	"visual acuity at ascertainment right eye, left eye: 20/20 both eyes, electrooculogram results: right eye, 1.27 left eye, 1.24, both eyes, normal macula with small peripapillary drusen"	""	"53y"	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295519"	"04214"	"00402759"	"00000"	"Familial, autosomal dominant"	"49y"	"visual acuity at ascertainment right eye, left eye: 20/25, 20/20, electrooculogram results: right eye, 1.27 left eye, 1.23, right eye, scrambled vitelliform lesion, left eye, mottled, yellowish change in retinal pigment epithelium"	""	"47y"	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295520"	"04214"	"00402760"	"00000"	"Familial, autosomal dominant"	"40y"	"visual acuity at ascertainment right eye, left eye: 20/25 both eyes, electrooculogram results right eye, 1.26 left eye, 1.61, both eyes, normal macula"	""	"40y"	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295521"	"04214"	"00402761"	"00000"	"Familial, autosomal dominant"	"72y"	"visual acuity at ascertainment right eye, left eye: 20/200, 20/60, electrooculogram results: inconsistent, unreliable: right eye, 3.25, left eye, 1.66, right eye, 0.00, left eye, 1.65, both eyes, scar with yellow deposit and retinal pigment epithelium clumping and thinning"	""	"50y"	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295522"	"04214"	"00402762"	"00000"	"Familial, autosomal dominant"	"54y"	"visual acuity at ascertainment right eye, left eye: 20/60, 20/30, electrooculogram results: right eye, 1.14, left eye, 1.20, right eye, scar with retinal pigment epithelium clumping, left eye, scar with central yellow deposit"	""	"27y"	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295523"	"04214"	"00402763"	"00000"	"Familial, autosomal dominant"	"78y"	"visual acuity at ascertainment right eye, left eye: 20/200 both eyes, right eye, geographic atrophic lesion, left eye, drusen and retinal pigment epithelium hypopigmentary changes"	""	"53y"	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295524"	"04214"	"00402764"	"00000"	"Familial, autosomal dominant"	"16y"	"visual acuity at ascertainment right eye, left eye: 20/25, 20/70, electrooculogram results: both eyes, 1.47, both eyes, vitelliform lesion in center of macula"	""	"11y"	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295525"	"04214"	"00402765"	"00000"	"Familial, autosomal dominant"	"52y"	"visual acuity at ascertainment right eye, left eye: 20/25 both eyes, electrooculogram results: right eye, 1.18, left eye 1.08, both eyes, hyperpigmented spot with surrounding atrophic halo"	""	"42y"	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295526"	"04214"	"00402766"	"00000"	"Familial, autosomal dominant"	"46y"	"visual acuity at ascertainment right eye, left eye: 20/20, 20/15, electrooculogram results: both eyes, 1.40, both eyes, normal macula"	""	"44y"	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295527"	"04214"	"00402767"	"00000"	"Familial, autosomal dominant"	"67y"	"visual acuity at ascertainment right eye, left eye: 20/20 both eyes, electrooculogram results: right eye, 1.41, left eye, 1.56, both eyes, normal macula"	""	"67y"	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295528"	"04214"	"00402768"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295529"	"04214"	"00402769"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295530"	"04214"	"00402770"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295531"	"04214"	"00402771"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295532"	"04214"	"00402772"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295533"	"04214"	"00402773"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295534"	"04214"	"00402774"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295535"	"04214"	"00402775"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295536"	"04214"	"00402776"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295537"	"04214"	"00402777"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295538"	"04214"	"00402778"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295539"	"04214"	"00402779"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295540"	"04214"	"00402780"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295541"	"04214"	"00402781"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"macular dystrophy, patterned"	""	""
"0000295542"	"04214"	"00402782"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295543"	"04214"	"00402783"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295544"	"04214"	"00402784"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295545"	"04214"	"00402785"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295546"	"04214"	"00402786"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295547"	"04214"	"00402787"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295548"	"04214"	"00402788"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295549"	"04214"	"00402789"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295550"	"04214"	"00402790"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295551"	"04214"	"00402791"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295552"	"04214"	"00402792"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295553"	"04214"	"00402793"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295554"	"04214"	"00402794"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295556"	"04214"	"00402796"	"00000"	"Familial, autosomal dominant"	""	"retinal dystrophy was characteristic of ADVIRC with circumferential peripheral retinal hyperpigmentation, punctate retinal and vitreous opacities, and choroidal atrophy. Individuals had abnormal electro-retinograms (ERG), suggestive of a more widespread photoreceptor dysfunction"	""	""	""	""	""	""	""	""	"nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC)"	""	""
"0000295557"	"04214"	"00402797"	"00000"	"Familial, autosomal dominant"	""	"retinal dystrophy was characteristic of ADVIRC with circumferential peripheral retinal hyperpigmentation, punctate retinal and vitreous opacities, and choroidal atrophy. Individuals had abnormal electro-retinograms (ERG), suggestive of a more widespread photoreceptor dysfunction; a more severe retinal phenotype was present in this family including rod���cone dystrophy and posterior sta"	""	""	""	""	""	""	""	""	"nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC)"	""	""
"0000295558"	"04214"	"00402798"	"00000"	"Familial, autosomal dominant"	""	"retinal dystrophy was characteristic of ADVIRC with circumferential peripheral retinal hyperpigmentation, punctate retinal and vitreous opacities, and choroidal atrophy. Individuals had abnormal electro-retinograms (ERG), suggestive of a more widespread photoreceptor dysfunction"	""	""	""	""	""	""	""	""	"nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC)"	""	""
"0000295559"	"04214"	"00402799"	"00000"	"Familial, autosomal dominant"	""	"retinal dystrophy was characteristic of ADVIRC with circumferential peripheral retinal hyperpigmentation, punctate retinal and vitreous opacities, and choroidal atrophy. Individuals had abnormal electro-retinograms (ERG), suggestive of a more widespread photoreceptor dysfunction"	""	""	""	""	""	""	""	""	"nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC)"	""	""
"0000295560"	"04214"	"00402800"	"00000"	"Familial, autosomal dominant"	""	"retinal dystrophy was characteristic of ADVIRC with circumferential peripheral retinal hyperpigmentation, punctate retinal and vitreous opacities, and choroidal atrophy. Individuals had abnormal electro-retinograms (ERG), suggestive of a more widespread photoreceptor dysfunction"	""	""	""	""	""	""	""	""	"nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC)"	""	""
"0000295562"	"04214"	"00402801"	"00000"	"Familial, autosomal dominant"	"63y"	"vision right/left eye: 0,3/0,3, near vision right/left eye: 0,5/0,8, nyctometry: missing, colour vision defect: Tritan/Tetartan, electrooculogram: normal, electroretinogram: not performed"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295563"	"04214"	"00402802"	"00000"	"Familial, autosomal dominant"	"37y"	"vision right/left eye: 0,5p/0,8p, near vision right/left eye: 0,7/1,0, nyctometry: missing, colour vision defect: none, electrooculogram: normal, electroretinogram: subnormal"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295564"	"04214"	"00402803"	"00000"	"Familial, autosomal dominant"	"33y"	"vision right/left eye: 0,5p/0,8p, near vision right/left eye: 1,0/1,0, nyctometry: pathological, colour vision defect: Tritan, electrooculogram: normal, electroretinogram: normal"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295565"	"04214"	"00402804"	"00000"	"Familial, autosomal dominant"	"30y"	"vision right/left eye: 1,0/1,0, near vision right/left eye: 1,0/1,0, nyctometry: pathological, colour vision defect: none, electrooculogram: normal, electroretinogram: normal"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295584"	"04214"	"00402823"	"00000"	"Familial, autosomal dominant"	"20y6m"	"lesions, right eye/left eye: single, pseudohypopyon/vitelliruptive lesion, visual acuity: right eye, left eye: 20/25, 20/32, color vision: normal, visual field: normal, full-field electroretinography: normal, multifocal electroretinography: all rings (61) reduced"	"18y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295585"	"04214"	"00402824"	"00000"	"Familial, autosomal dominant"	"86y6m"	"lesions, right eye/left eye: single, atrophic lesion/atrophic lesion, visual acuity: right eye, left eye: 20/400, 20/400, color vision: errors, visual field: absolute scotoma, full-field electroretinography: normal, multifocal electroretinography: all rings (61) reduced"	"54y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295586"	"04214"	"00402825"	"00000"	"Familial, autosomal dominant"	"54y4m"	"lesions, right eye/left eye: single, vitelliruptive lesion/vitelliruptive lesion, visual acuity: right eye, left eye: 20/32, 20/40, color vision: errors, visual field: relative scotoma, full-field electroretinography: reduced, multifocal electroretinography: r1-2 (61) reduced, electro-oculogram right eye/left eye: 141/155"	"35y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295587"	"04214"	"00402826"	"00000"	"Familial, autosomal dominant"	"52y11m"	"lesions, right eye/left eye: few, vitelliruptive lesion/vitelliruptive lesion, visual acuity: right eye, left eye: 20/63, 20/32, color vision: errors"	"45y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295588"	"04214"	"00402827"	"00000"	"Familial, autosomal dominant"	"29y5m"	"lesions, right eye/left eye: single, vitelliruptive lesion/vitelliruptive lesion, visual acuity: right eye, left eye: 20/63, 20/200, color vision: errors, visual field: scotoma (left eye), full-field electroretinography: reduced, multifocal electroretinography: r1-4 (103) reduced"	"5y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295589"	"04214"	"00402828"	"00000"	"Familial, autosomal dominant"	"31y6m"	"lesions, right eye/left eye: single, vitelliruptive lesion/vitelliruptive lesion, visual acuity: right eye, left eye: 20/40, 20/50, color vision: errors, visual field: normal, full-field electroretinography: right eye: 30-Hz flicker reduced, multifocal electroretinography: r1-5 (103) reduced, electro-oculogram right eye/left eye: 123/118"	"5y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295590"	"04214"	"00402829"	"00000"	"Familial, autosomal dominant"	"16y8m"	"lesions, right eye/left eye: none, visual acuity: right eye, left eye: 20/20, 20/16, color vision: normal, visual field: normal, electro-oculogram right eye/left eye: 139/140"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295591"	"04214"	"00402830"	"00000"	"Familial, autosomal dominant"	"55y5m"	"lesions, right eye/left eye: single, vitelliruptive lesion/vitelliruptive lesion, visual acuity: right eye, left eye: 20/50, 20/200, color vision: errors, visual field: relative scotoma, multifocal electroretinography: r1-4 (103) reduced, electro-oculogram right eye/left eye: 147/147"	"45y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295592"	"04214"	"00402831"	"00000"	"Familial, autosomal dominant"	"53y11m"	"lesions, right eye/left eye: single, atrophic lesion/atrophic lesion, visual acuity: right eye, left eye: 20/100, 20/100, color vision: normal, visual field: relative scotoma, full-field electroretinography: 30-hz flicker reduced, multifocal electroretinography: r1-3 (61) reduced, electro-oculogram right eye/left eye: 152/"	"34y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295593"	"04214"	"00402832"	"00000"	"Familial, autosomal dominant"	"42y8m"	"lesions, right eye/left eye: parafoveal, 2 vitelliform lesion/vitelliform lesion, visual acuity: right eye, left eye: 20/20, 20/40, visual field: absolute scotoma, multifocal electroretinography: normal, electro-oculogram right eye/left eye: /126"	"42y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295594"	"04214"	"00402833"	"00000"	"Familial, autosomal dominant"	"57y4m"	"lesions, right eye/left eye: single, atrophic lesion/vitelliform lesion, visual acuity: right eye, left eye: 20/200, 20/32, color vision: errors, visual field: absolute/relative scotoma, multifocal electroretinography: r1-2 (61) reduced, electro-oculogram right eye/left eye: 163/153"	"56y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295595"	"04214"	"00402834"	"00000"	"Familial, autosomal dominant"	"30y10m"	"lesions, right eye/left eye: single, -/vitelliform lesion, visual acuity: right eye, left eye: 20/50, 20/25, visual field: normal, full-field electroretinography: normal, multifocal electroretinography: normal, electro-oculogram right eye/left eye: /118"	"30y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295596"	"04214"	"00402835"	"00000"	"Familial, autosomal dominant"	"54y6m"	"lesions, right eye/left eye: single, vitelliruptive lesion/vitelliform lesion, visual acuity: right eye, left eye: 20/160, 20/25, color vision: errors, visual field: relative scotoma, multifocal electroretinography: right eye: r1-2 (61); left eye: all rings (61) reduced, electro-oculogram right eye/left eye: 132/154"	"53y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295597"	"04214"	"00402836"	"00000"	"Familial, autosomal dominant"	"51y7m"	"lesions, right eye/left eye: multiple, vitelliform lesion/vitelliform lesion, visual acuity: right eye, left eye: 20/25, 20/20, color vision: errors, visual field: relative scotoma, multifocal electroretinography: all rings (103) reduced, electro-oculogram right eye/left eye: 118/115"	"51y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295598"	"04214"	"00402837"	"00000"	"Familial, autosomal dominant"	"56y5m"	"lesions, right eye/left eye: single, vitelliruptive lesion/vitelliruptive lesion, visual acuity: right eye, left eye: 20/100, 20/63, color vision: errors, visual field: relative scotoma, electro-oculogram right eye/left eye: 149/141"	"21y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295599"	"04214"	"00402838"	"00000"	"Familial, autosomal dominant"	"59y7m"	"lesions, right eye/left eye: single, pseudohypopyon/vitelliruptive lesion, visual acuity: right eye, left eye: 20/25, 20/63, color vision: errors, visual field: relative scotoma, full-field electroretinography: reduced, multifocal electroretinography: all rings (61) reduced"	"58y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295606"	"04214"	"00402845"	"00000"	"Familial, autosomal dominant"	"93y"	"examined at the age of 51 years, visual acuity: 20/20 bothe eyes and a completely normal fundus in each eye was documented photographically. 75 years - visual acuity: 20/25 bothe eyes and small vitelliform lesions approximately one-third disc area in size centered on fixation; electro-culographic recordings: reduced in both eyes: 1.2 right eye and 1.1 left eye; 77 years - eccentric vitelliform lesions in both eyes;  88 years - visual acuity: 20/30 right eye and 20/70 2 left eye; central vitelliform lesions had evolved into small knobs of gliotic tissue; eccentric vitelliform lesions had resolved, leaving patches of retinal pigment epithelium atrophy. Multiple crumblike yellow flecks were observed in the midperiphery of both eyes at the level of the retinal pigment epithelium. Two other members of his extended family exhibited similar midperipheral flecks later in life"	"77y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295611"	"04214"	"00402850"	"00000"	"Familial, autosomal dominant"	"7y"	"7y visual acuity right/left eye: 0.7/0.7, fundus: right eye: pseudohypopyon stage, left eye: previtelliform or carrier stage, fundus autofluorescence: right eye: centrally moderate increase, left eye normal, electrooculogram Arden ratio right/left eye: 2.9/2.6; 11y visual acuity right/left eye: 0.8/0.8, visual field: normal, fundus: unchanged, fundus autofluorescence: unchanged, optical coherence tomography: right eye: domeshaped subretinal thickening, left eye: normal, electrooculogram Arden ratio right/left eye: artifacts, 1.2/1.6,; 13y visual acuity right/left eye: 0.7/0.9, visual field: normal, fundus: unchanged, fundus autofluorescence: unchanged, optical coherence tomography: unchanged"	"7y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295612"	"04214"	"00402851"	"00000"	"Familial, autosomal dominant"	"41y"	"41y visual acuity right/left eye: nd, visual field: not done, fundus: previtelliform or carrier stage, fundus autofluorescence: not done, optical coherence tomography: not done, electrooculogram Arden ratio right/left eye: not done, multifocal electroretinography: not done, comments: asymptomatic; not available for further testing"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295613"	"04214"	"00402852"	"00000"	"Familial, autosomal dominant"	"12y"	"12y visual acuity right/left eye: 0.4/1.0, visual field: normal, fundus: right eye: vitelliruptive stage (scrambled-egg stage), left eye: vitelliform stage with some scarring, fundus autofluorescence: right eye: autofluorescence very increased at the border of the central lesion, inside autofluorescence low, left eye: autofluorescence very increased at the border and freckled inside, electrooculogram Arden ratio right/left eye: 2.9/artifacts., multifocal electroretinography: A very reduced (left eye); 13y visual acuity right/left eye: 0.3/0.9, visual field: normal, fundus: unchanged, fundus autofluorescence: unchanged, optical coherence tomography: right eye: subretinal scarn left eye: domeshaped subretinal thickening, multifocal electroretinography: unchanged; 14y visual acuity right/left eye: 0.5/1.0, fundus: unchanged, fundus autofluorescence: unchanged, optical coherence tomography: unchanged, electrooculogram Arden ratio right/left eye: 2.6/ 1.9, multifocal electroretinography: unchanged; 15y visual acuity right/left eye: 0.5/0.8, visual field: normal, fundus: unchanged, fundus autofluorescence: unchanged, optical coherence tomography: unchanged, electrooculogram Arden ratio right/left eye: 1.5/ 1.5, multifocal electroretinography: unchanged; 17y visual acuity right/left eye: 0.8/1.0, visual field: normal, fundus: unchanged, fundus autofluorescence: unchanged, optical coherence tomography: unchanged, electrooculogram Arden ratio right/left eye: artifacts./artifacts., multifocal electroretinography: unchanged; 18y visual acuity right/left eye: 0.7/0.6, fundus: unchanged, fundus autofluorescence: unchanged, optical coherence tomography: unchanged, electrooculogram Arden ratio right/left eye: 1.7 / 1.5"	"6y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295614"	"04214"	"00402853"	"00000"	"Familial, autosomal dominant"	"11y"	"11y visual acuity right/left eye: 1.0/1.0, visual field: normal, fundus: Slight retinal pigment epithelium irregularities centrally, fundus autofluorescence: normal, optical coherence tomography: normal, electrooculogram Arden ratio right/left eye: 2.1/ 2.8, multifocal electroretinography: AP1 reduced overall, centrally very reduced, An1 almost normal; 12y visual acuity right/left eye: 1.0/1.2, visual field: normal, fundus: unchanged, fundus autofluorescence: normal, optical coherence tomography: normal, electrooculogram Arden ratio right/left eye: artifacts./ 2.1, multifocal electroretinography: unchanged; 13y visual acuity right/left eye: 1.0/1.2, visual field: normal, fundus: unchanged, fundus autofluorescence: normal, optical coherence tomography: normal, electrooculogram Arden ratio right/left eye: 2.1/ artifacts., multifocal electroretinography: unchanged; 15y visual acuity right/left eye: 1.2/1.2, visual field: normal, fundus: unchanged, fundus autofluorescence: normal, optical coherence tomography: normal, multifocal electroretinography: unchanged (right eye)"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295615"	"04214"	"00402854"	"00000"	"Familial, autosomal dominant"	"38y"	"31y visual acuity right/left eye: 1.0/0.8, fundus: both eyes: vitelliruptive stage (scrambled-egg stage) (central scarring left>right eye), fundus autofluorescence: OU: irregularly autofluorescenceincreased in area of lesion with patches of hyperautofluorescencecentre of the lesion with autofluorescenceincreased OD and autofluorescencereduced OS, optical coherence tomography: both eyes: domeshaped subretinal thickening with scarring, electrooculogram Arden ratio right/left eye: nlp, multifocal electroretinography: A reduced; 34y visual acuity right/left eye: 1.2/0.8, visual field: normal, fundus: unchanged, fundus autofluorescence: unchanged, optical coherence tomography: unchanged, electrooculogram Arden ratio right/left eye: nlp, comments: Vision loss at age 9 y and 16 y, chorioretinitis suspected"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295616"	"04214"	"00402855"	"00000"	"Familial, autosomal dominant"	"6y"	"6y visual acuity right/left eye: 1.0/0.8, visual field: not done, fundus: both eyes: vitelliform stage, fundus autofluorescence: both eyes: autofluorescence increased in central lesion, optical coherence tomography: both eyes: domeshaped subretinal thickening, electrooculogram Arden ratio right/left eye: no light peak, artifacts., multifocal electroretinography: not done"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295617"	"04214"	"00402856"	"00000"	"Familial, autosomal dominant"	"36y"	"36y visual acuity right/left eye: 1.2/1.2, visual field: not done, fundus: previtelliform or carrier stage, fundus autofluorescence: not done, optical coherence tomography: not done, electrooculogram Arden ratio right/left eye: not done, multifocal electroretinography: not done, comments: asymptomatic"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295618"	"04214"	"00402857"	"00000"	"Familial, autosomal dominant"	"2y"	"2y visual acuity right/left eye: 0.5/0.5, fundus: both eyes: vitelliform stage, comments: esotropia right eye: strabismus surgery at age 6 y; 6y visual acuity right/left eye: 0.5/0.7, fundus: unchanged, electrooculogram Arden ratio right/left eye: artifacts; 8y visual acuity right/left eye: 0.9/0.9, fundus: both eyes: vitelliform stage; right eye: with some irregularities, fundus autofluorescence: both eyes: autofluorescence of central lesion increased, inferiorly very increased, with tiny spots of hyperautofluorescence, electrooculogram Arden ratio right/left eye: artifacts"	"1y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295619"	"04214"	"00402858"	"00000"	"Familial, autosomal dominant"	"42y"	"42y visual acuity right/left eye: 1.0/0.2, fundus: slight retinal pigment epithelium irregularities, comments: asymptomatic; amblyopia left eye:, strabismus surgery at age 6; 45y visual acuity right/left eye: 1.0/0.2, visual field: normal, fundus: unchanged, fundus autofluorescence: right eye: centrally slightly autofluorescence increase, left eye: unremarkable, electrooculogram Arden ratio right/left eye: no light peak"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295620"	"04214"	"00402859"	"00000"	"Familial, autosomal dominant"	"6y"	"6y visual acuity right/left eye: 0.8/1.0, visual field: normal, fundus: both eyes: vitelliform stage, fundus autofluorescence: both eyes: autofluorescence increased in central lesion, electrooculogram Arden ratio right/left eye: no light peak, multifocal electroretinography: AP1 reduced overall, centrally very reduced, An1 almost normal (right eye); 11y visual acuity right/left eye: 0.8/0.8, visual field: normal, fundus: both eyes: vitelliform stage, left eye: central irregular, fundus autofluorescence: autofluorescence increased enlarged to the total lower half of the area, optical coherence tomography: both eyes: domeshaped subretinal thickening, electrooculogram Arden ratio right/left eye: no light peak"	"1y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295621"	"04214"	"00402860"	"00000"	"Familial, autosomal dominant"	"13y"	"13y visual acuity right/left eye: 1.4/1.4, visual field: not done, fundus: previtelliform or carrier stage, fundus autofluorescence: normal, optical coherence tomography: not done, electrooculogram Arden ratio right/left eye: no light peak, multifocal electroretinography: AP1 reduced overall, centrally very reduced, An1 almost normal, comments: asymptomatic"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295622"	"04214"	"00402861"	"00000"	"Familial, autosomal dominant"	"37y"	"37y visual acuity right/left eye: 1.2/0.8, visual field: not done, fundus: normalo typical macular reflexes, slight retinal pigment epithelium irregularities, fundus autofluorescence: normal, optical coherence tomography: not done, electrooculogram Arden ratio right/left eye: no light peak, multifocal electroretinography: AP1 reduced overall, centrally very reduced, An1 almost normal, comments: Left esotropia"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295623"	"04214"	"00402862"	"00000"	"Isolated (sporadic)"	"16y"	"16y visual acuity right/left eye: 0.9/0.6, visual field: not done, fundus: both eyes: vitelliruptive stage (scrambled-egg stage), fundus autofluorescence: autofluorescence increased especially in the lower partifactss of the lesion, optical coherence tomography: not done, electrooculogram Arden ratio right/left eye: not done, multifocal electroretinography: not done, comments: Mother affected, VA 0.1/ 0.1"	"16y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295624"	"04214"	"00402863"	"00000"	"Isolated (sporadic)"	"59y"	"59y visual acuity right/left eye: 0.7/0.1, visual field: G: normal outer borders, fundus: right eye: atrophic area surrounot doneed by hyperpigmentation, left eye: yellow deposits with central scar and hyperpigmentation, fundus autofluorescence: right eye: centrally autofluorescence decreased, left eye: irregular circle of autofluorescence increased with central autofluorescence decrease, optical coherence tomography: not done, electrooculogram Arden ratio right/left eye: no light peak, multifocal electroretinography: A very reduced"	"50y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295625"	"04214"	"00402864"	"00000"	"Familial, autosomal dominant"	"32y"	"32y visual acuity right/left eye: 0.2/0.4, visual field: not done, fundus: both eyes: pseudohypopyon stage, fundus autofluorescence: not done, optical coherence tomography: not done, electrooculogram Arden ratio right/left eye: not done, multifocal electroretinography: not done, comments: Narrow angle glaucoma"	"10y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295626"	"04214"	"00402865"	"00000"	"Familial, autosomal dominant"	"7y"	"7y visual acuity right/left eye: 0.2/0.03, visual field: not done, fundus: both eyes: vitelliruptive stage (scrambled-egg stage), fundus autofluorescence: not done, optical coherence tomography: not done, electrooculogram Arden ratio right/left eye: not done, multifocal electroretinography: not done"	"7y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295627"	"04214"	"00402866"	"00000"	"Familial, autosomal dominant"	"31y"	"31y visual acuity right/left eye: 1.0/0.8, visual field: not done, fundus: both eyes: vitelliruptive stage (scrambled-egg stage) (central scarring left>right eye), fundus autofluorescence: OU: irregularly autofluorescenceincreased in area of lesion with patches of hyperautofluorescencecentre of the lesion with autofluorescenceincreased OD and autofluorescencereduced OS, optical coherence tomography: both eyes: domeshaped subretinal thickening with scarring, electrooculogram Arden ratio right/left eye: nlp, multifocal electroretinography: A reduced; 34y visual acuity right/left eye: 1.2/0.8, visual field: normal, fundus: unchanged, fundus autofluorescence: unchanged, optical coherence tomography: unchanged, electrooculogram Arden ratio right/left eye: nlp, multifocal electroretinography: not done, comments: Vision loss at age 9 y and 16 y, chorioretinitis suspected"	"9y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295628"	"04214"	"00402867"	"00000"	"Familial, autosomal dominant"	"4y"	"4y visual acuity right/left eye: 1.0/1.0, fundus: both eyes: vitelliform stage; 7y visual acuity right/left eye: 0.7/1.0, visual field: normal, fundus: unchanged, fundus autofluorescence: both eyes: autofluorescence increased in central lesion, optical coherence tomography: both eyes: domeshaped subretinal thickening, electrooculogram Arden ratio right/left eye: artifacts"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295629"	"04214"	"00402868"	"00000"	"Familial, autosomal dominant"	"2y"	"2y visual acuity right/left eye: 1.0/1.0; 5y visual acuity right/left eye: 1.0/1.0, fundus: unchanged, fundus autofluorescence: both eyes: autofluorescence increased in central lesion (as BII:1), optical coherence tomography: both eyes: domeshaped subretinal thickening, electrooculogram Arden ratio right/left eye: 1.8/1.5"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295630"	"04214"	"00402869"	"00000"	"Isolated (sporadic)"	"15y"	"15y visual acuity right/left eye: 0.2/0.02, visual field: relative central scotoma, fundus: both eyes: late stage/ fibrotic stage, fundus autofluorescence: Central lesion with irregular autofluorescence very increased, centrally increased, optical coherence tomography: not done, electrooculogram Arden ratio right/left eye: 1.4/1.4, multifocal electroretinography: A reduced, centrally very reduced, comments: Brother also affected, father slight central irregularities, but no mutation"	"9y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295631"	"04214"	"00402870"	"00000"	"Familial, autosomal dominant"	"67y"	"ophthalmological examinations right, left eye: multiocal electroretinography (ERG): latency: ring 1-2: 27.5, ring 3-6: 29.2, amplitude (nV/deg2): ring 1-2: 35.4, ring 3-6:  17.4165, visual acuity: 20/20, 20/20, full-field ERG amplitudes: 30-Hz flicker (µV):49, 51; blue (rod) (µV): 142, 138 ; white light (µV):  262, 237; implicit time 30-Hz flicker (ms): 31.9, 32.4; electrooculogram Arden ratio"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295632"	"04214"	"00402871"	"00000"	"Familial, autosomal dominant"	"59y"	"ophthalmological examinations right, left eye: multiocal electroretinography (ERG): latency: ring 1-2: 30, ring 3-6: 30.0, amplitude (nV/deg2): ring 1-2: 27.8, ring 3-6:  9.3199, visual acuity: 20/20, 20/20, full-field ERG amplitudes: 30-Hz flicker (µV):13, 12; blue (rod) (µV):  56, 63; white light (µV): 169, 199; implicit time 30-Hz flicker (ms): 33.7, 33.7; electrooculogram Arden ratio"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295633"	"04214"	"00402872"	"00000"	"Familial, autosomal dominant"	"33y"	"ophthalmological examinations right, left eye: multiocal electroretinography (ERG): latency: ring 1-2: 31.6, ring 3-6: non-detectable, amplitude (nV/deg2): ring 1-2: 5.1, ring 3-6: non-detectable290 as measured including the ORCC complex, visual acuity: 20/200, 20/60, full-field ERG amplitudes: 30-Hz flicker (µV):21, 19; blue (rod) (µV):  70, 74; white light (µV): 161, 145; implicit time 30-Hz flicker (ms): 36.3, 34.0; electrooculogram Arden ratio"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295634"	"04214"	"00402873"	"00000"	"Familial, autosomal dominant"	"30y"	"ophthalmological examinations right, left eye: multiocal electroretinography (ERG): latency: ring 1-2: 32.5, ring 3-6: 31.7, amplitude (nV/deg2): ring 1-2: 16.2, ring 3-6: 17.2406, visual acuity: 20/200, 20/60, full-field ERG amplitudes: 30-Hz flicker (µV):56, 55; blue (rod) (µV): 143, 122; white light (µV): 159, 173; implicit time 30-Hz flicker (ms): 33.4, 33.4; electrooculogram Arden ratio"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295635"	"04214"	"00402874"	"00000"	"Familial, autosomal dominant"	"11y"	"ophthalmological examinations right, left eye: multiocal electroretinography (ERG): latency: ring 1-2: —, ring 3-6: —, amplitude (nV/deg2): ring 1-2: —, ring 3-6: ——, visual acuity: 20/20, 20/20, full-field ERG amplitudes: 30-Hz flicker (µV):—; blue (rod) (µV): —; white light (µV): —; implicit time 30-Hz flicker (ms): —; ele"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295636"	"04214"	"00402875"	"00000"	"Familial, autosomal dominant"	"6y"	"ophthalmological examinations right, left eye: multiocal electroretinography (ERG): latency: ring 1-2: —, ring 3-6: —, amplitude (nV/deg2): ring 1-2: —, ring 3-6: ——, visual acuity: 20/25, 20/25, full-field ERG amplitudes: 30-Hz flicker (µV):—; blue (rod) (µV): —; white light (µV): —; implicit time 30-Hz flicker (ms): —; ele"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295672"	"04214"	"00402924"	"00000"	"Familial, autosomal dominant"	"8y"	"Best corrected visual acuity: correctable to 20/20-1 OD with -2.00  0.50 x 90 diopters and 20/20-1 OS with -0.500.25 x 95 diopters; vision screening (Ishihara plates): normal; intraocular pressure right/left eye: 10 mm Hg / 11 mm Hg; anterior segment: normal; fundus examination: normal-appearing optic discs with normal retinal vessels; both eyes vitelliform-appearing lesion within the fovea; electro-oculographic results: light-peak to dark-trough ratio of 1.33 OD and 1.20 OS (norm: 1.75); patient’s parents – no symptoms, no mutation, paternity and maternity confir"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295674"	"04214"	"00402926"	"00000"	"Familial, autosomal dominant"	"28y"	"complaints of metamorphopsia; best-corrected visual acuity right/left eye: 20/200, 20/50; funduscopy: faded vitelliform macular lesion associated with retinal pigment epithelium atrophy in the right eye; a typical vitelliform-like macular lesion in the left eye (figs. 2a and 2b); optical coherence tomography: yellow macular lesions showed a highly reflective thickened layer at the level of the retinal pigment epithelium and choriocapillaris in both eyes; well-circumscribed elevation of the retinal pigment epithelium in the left eye"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295675"	"04214"	"00402927"	"00000"	"Familial, autosomal dominant"	""	"proband’s sibling: vitelliform-like lesions in both macular regions; no associated visual deficit; best-corrected visual acuity: 20/20 both ey"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295703"	"04214"	"00402956"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295704"	"04214"	"00402957"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295705"	"04214"	"00402958"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295706"	"04214"	"00402959"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295707"	"04214"	"00402960"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295708"	"04214"	"00402961"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295709"	"04214"	"00402962"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295710"	"04214"	"00402963"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295711"	"04214"	"00402964"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295712"	"04214"	"00402965"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295713"	"04214"	"00402966"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295714"	"04214"	"00402967"	"00000"	"Familial, autosomal dominant"	"71y"	"Best-corrected visual acuity: <20/100. Electrooculogram: 1.3. Fundus examination: Bilateral arrophy of the central macula.. Fluorescein angiography: Choroidal neovessel development very extensive in the right eye. Multifocal electroretinography:Retinal electrogenesis of the central cones severely altered. Optical coherence tomography:Dramatic thinning of the neurosensory retina with an epiretinal membrane-like detachment. Enhanced optical reflectivity from the choroid"	"<6y"	""	""	"Q293H mutant channel is non-functional and inhibits the function of wild-type bestrophin-1 channels in a dominant negative manner"	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295715"	"04214"	"00402968"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	"Q293H mutant channel is non-functional and inhibits the function of wild-type bestrophin-1 channels in a dominant negative manner"	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295716"	"04214"	"00402969"	"00000"	"Familial, autosomal dominant"	"35y"	"Best-corrected visual acuity: 20/200. Electrooculogram: 1.1. Fundus examination: Typical vitelliform lesions . Fluorescein angiography: Devepopment of foveolar choroidal neovessels. Multifocal electroretinography:Retinal electrogenesis of the central cones altered. Optical coherence tomography:Flattened foveal contour. Elevation of the neurosensory retina due to a mound of highly reflective material at the retinal pigment epithelium layer. Disruption of the photoreceptor layer"	"5y"	""	""	"Q293H mutant channel is non-functional and inhibits the function of wild-type bestrophin-1 channels in a dominant negative manner"	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295717"	"04214"	"00402970"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	"Q293H mutant channel is non-functional and inhibits the function of wild-type bestrophin-1 channels in a dominant negative manner"	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295718"	"04214"	"00402971"	"00000"	"Familial, autosomal dominant"	"41y"	"Best-corrected visual acuity: 20/20. Electrooculogram: 1. Fundus examination: Normal. Fluorescein angiography: Normal. Multifocal electroretinography:Normal. Optical coherence tomography:Normal"	""	""	""	"Q293H mutant channel is non-functional and inhibits the function of wild-type bestrophin-1 channels in a dominant negative manner"	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295719"	"04214"	"00402972"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	"Q293H mutant channel is non-functional and inhibits the function of wild-type bestrophin-1 channels in a dominant negative manner"	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295720"	"04214"	"00402973"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	"Q293H mutant channel is non-functional and inhibits the function of wild-type bestrophin-1 channels in a dominant negative manner"	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295721"	"04214"	"00402974"	"00000"	"Familial, autosomal dominant"	"10y"	"Best-corrected visual acuity: 20/200. Electrooculogram: 1. Fundus examination: Bilateral vitelliform appearance. Rapid fragmentation of the lesion in the right eye. Fluorescein angiography: Not done. Multifocal electroretinography:Not done. Optical coherence tomography:Elevation of the macular retina due to the vitelliform lesion. Highly reflective material at the retinal pigment epithelium layer"	"5y"	""	""	"Q293H mutant channel is non-functional and inhibits the function of wild-type bestrophin-1 channels in a dominant negative manner"	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295722"	"04214"	"00402975"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295723"	"04214"	"00402976"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295724"	"04214"	"00402977"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295725"	"04214"	"00402978"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295726"	"04214"	"00402979"	"00000"	"Familial, autosomal dominant"	"81y"	"post-mortem eye analysis;  scarring with atrophy, yellow deposits in the maculae of both eyes, and visual acuity of 20/200 at the age of 58; visual acuity was first assessed during the evaluation for draft for military service at the age of 20 and continuously declined resulting in legal blindness by the fourth; despite being homozygous for the W93C mutation he exhibited a later age of onset than has been reported as typical for 167 of his family members heterozygous for the same mutation"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295727"	"04214"	"00402980"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295728"	"04214"	"00402981"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295729"	"04214"	"00402982"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295730"	"04214"	"00402983"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295731"	"04214"	"00402984"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295732"	"04214"	"00402985"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295733"	"04214"	"00402986"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295734"	"04214"	"00402987"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295735"	"04214"	"00402988"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295736"	"04214"	"00402989"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295747"	"04214"	"00403000"	"00000"	"Familial, autosomal dominant"	"6y"	"Fundoscopy: both eyes: vitelliform disc, electrooculogram: (Arden ratio) right eye: 122, left eye: 140, electroretinogram: normal"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295748"	"04214"	"00403001"	"00000"	"Familial, autosomal dominant"	"3y"	"Fundoscopy: both eyes: normal (asymptomatic), electrooculogram: (Arden ratio) not performed, electroretinogram: not performed"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295749"	"04214"	"00403002"	"00000"	"Familial, autosomal dominant"	"38y"	"Fundoscopy: both eyes : normal (asymptomatic), electrooculogram: (Arden ratio) right eye: 140left eye: 145, electroretinogram: normal"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295750"	"04214"	"00403003"	"00000"	"Familial, autosomal dominant"	"56y"	"Fundoscopy: both eyes : vitelliform disc (partially atrophic), electrooculogram: (Arden ratio) right eye: 130, left eye: 145, electroretinogram: normal"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295751"	"04214"	"00403004"	"00000"	"Familial, autosomal dominant"	"23y"	"Fundoscopy: both eyes : normal (asymptomatic), electrooculogram: (Arden ratio) right eye: 128, left eye: 133, electroretinogram: normal"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295752"	"04214"	"00403005"	"00000"	"Familial, autosomal dominant"	"37y"	"Fundoscopy: both eyes : normal (asymptomatic), electrooculogram: (Arden ratio) Not performed, electroretinogram: not performed"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295753"	"04214"	"00403006"	"00000"	"Familial, autosomal dominant"	"37y"	"Fundoscopy: both eyes : vitelliform disc (scrambled egg), electrooculogram: (Arden ratio) right eye: 130, left eye: 109, electroretinogram: normal"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295754"	"04214"	"00403007"	"00000"	"Familial, autosomal dominant"	"41y"	"Fundoscopy: right eye: advanced CNV, fibrous scar, left eye: vitelliform disc, (scrambled egg), electrooculogram: (Arden ratio) right eye: 114, left eye: 102, electroretinogram: normal"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295755"	"04214"	"00403008"	"00000"	"Familial, autosomal dominant"	"12y"	"Fundoscopy: right eye: advanced CNV, fibrous scar, left eye: vitelliform disc (scrambled egg), electrooculogram: (Arden ratio) right eye: 120, left eye: 115, electroretinogram: normal"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295756"	"04214"	"00403009"	"00000"	"Familial, autosomal dominant"	"59y"	"Fundoscopy: right eye: vitelliform disc (scrambled egg), left eye: multiple vitelliform discs, electrooculogram: (Arden ratio) right eye: 150, left eye: 145, electroretinogram: normal"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295757"	"04214"	"00403010"	"00000"	"Familial, autosomal dominant"	"22y"	"Fundoscopy: both eyes : normal (asymptomatic), electrooculogram: (Arden ratio) right eye: 150, left eye: 155, electroretinogram: normal"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295758"	"04214"	"00403011"	"00000"	"Familial, autosomal dominant"	"29y"	"Fundoscopy: both eyes : normal (asymptomatic), electrooculogram: (Arden ratio) right eye: 155, left eye: 148, electroretinogram: normal"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295761"	"04214"	"00403014"	"00000"	"Familial, autosomal dominant"	"49y"	"visual acuity right, left eye: 20/70, 20/400, number of lesions right / left eye: 3/2, electro-oculogram right / left eye: 1.0/1.0"	"21y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295762"	"04214"	"00403015"	"00000"	"Familial, autosomal dominant"	"72y"	"visual acuity right, left eye: 20/40, 20/50, number of lesions right / left eye: 3/3, electro-oculogram right / left eye: 1.0/1.0b, electroretinogram: normal"	"50y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295763"	"04214"	"00403016"	"00000"	"Familial, autosomal dominant"	"63y"	"visual acuity right, left eye: 20/800, 20/200, number of lesions right / left eye: 2/5, electro-oculogram right / left eye: 1.6/1.4b"	"33y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295764"	"04214"	"00403017"	"00000"	"Familial, autosomal dominant"	"15y"	"visual acuity right, left eye: 20/20, 20/100, number of lesions right / left eye: 2/2, electro-oculogram right / left eye: 1.0/1.0, electroretinogram: normal"	"5y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295765"	"04214"	"00403018"	"00000"	"Familial, autosomal dominant"	"44y"	"visual acuity right, left eye: 20/100, 20/100, number of lesions right / left eye: 2/2, electro-oculogram right / left eye: 1.2/1.1b"	"14y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295766"	"04214"	"00403019"	"00000"	"Familial, autosomal dominant"	"55y"	"visual acuity right, left eye: 20/125, 20/100, number of lesions right / left eye: 6/2, electro-oculogram right / left eye: 1.0/1.0, electroretinogram: normal"	"10y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295767"	"04214"	"00403020"	"00000"	"Familial, autosomal dominant"	"67y"	"visual acuity right, left eye: 20/70, 20/50, number of lesions right / left eye: 2/2, electro-oculogram right / left eye: 1.1/1.2b"	"39y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295768"	"04214"	"00403021"	"00000"	"Familial, autosomal dominant"	"61y"	"visual acuity right, left eye: 20/100, 20/40, number of lesions right / left eye: 2/3, electro-oculogram right / left eye: 1.3/1.3b"	"46y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295769"	"04214"	"00403022"	"00000"	"Familial, autosomal dominant"	"55y"	"visual acuity right, left eye: 20/250, 20/20, number of lesions right / left eye: 7/6, electro-oculogram right / left eye: 1.0/1.0"	"50y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295779"	"04214"	"00403032"	"00000"	"Familial, autosomal recessive"	"30y"	"visual acuity (Snellen) /refraction: OD 20/60 +4/+1.75 @ 95 deg, OS 20/200 +4/+1.5 @ 90 deg, no angle closure glaucoma, fundoscopy: irregular pale reflex from RPE, peripheral sparing; small pale subretinal deposits, fluorescein angiography: early patchy hyperfluorescence, electroretinography (ERG): undetectable pattern ERG; reduced rod and cone full-field ERGs, electro-oculogram:absent EOG light rise"	""	""	""	""	""	""	""	""	"autosomal-recessive bestrophinopathy (ARB)"	""	""
"0000295780"	"04214"	"00403033"	"00000"	"Familial, autosomal recessive"	"18y"	"visual acuity (Snellen) /refraction: OD hand movement +1.75/+1.0 @ 110 deg, OS 20/120 +2.25/+0.75 @ 110 deg, angle closure glaucoma, fundoscopy: bilateral widespread RPE, irregularity with small subretinal deposits at the posterior poles, fluorescein angiography: widespread early patchy hyperfluorescence, electroretinography (ERG): reduced rod and cone full-field ERGs, electro-oculogram:absent EOG light rise"	""	""	""	""	""	""	""	""	"autosomal-recessive bestrophinopathy (ARB)"	""	""
"0000295781"	"04214"	"00403034"	"00000"	"Familial, autosomal recessive"	"40y"	"visual acuity (Snellen) /refraction: OD 20/80 +0.5DS, OS 20/120 +1.0/+1.75 @ 30 deg, no angle closure glaucoma, fundoscopy: widespread irregularity of the RPE pigmentation, subretinal deposits at the maculae with presumed bilateral macular edema, fluorescein angiography: patchy choroidal fluorescence, electroretinography (ERG): pattern ERG amplitudes mildly reduced; rod and cone full-field ERGs delayed and reduced, electro-oculogram:absent EOG light rise"	""	""	""	""	""	""	""	""	"autosomal-recessive bestrophinopathy (ARB)"	""	""
"0000295782"	"04214"	"00403035"	"00000"	"Familial, autosomal recessive"	"7y"	"visual acuity (Snellen) /refraction: OD 20/80 +1.25DS/-1 @ 40 deg, OS 20/120 +1.25DS/0.75@ 130 deg, no angle closure glaucoma, fundoscopy: widespread RPE irregularities and subretinal deposits, fluorescein angiography: not done, electroretinography (ERG): pattern ERG amplitudes mildly reduced; rod and cone full-field ERGs delayed and reduced, electro-oculogram:EOG light rise profoundly reduced"	""	""	""	""	""	""	""	""	"autosomal-recessive bestrophinopathy (ARB)"	""	""
"0000295783"	"04214"	"00403036"	"00000"	"Familial, autosomal recessive"	"4y"	"visual acuity (Snellen) /refraction: OD 20/120 +4/+0.5 @ 80 deg, OS 20/200 +3/+0.5 @ 120 deg, no angle closure glaucoma, fundoscopy: scars at each macula and widespread RPE irregularity, fluorescein angiography: patchy hyperfluorescence, electroretinography (ERG): pattern ERGs undetectable; reduced amplitude rod ERGs; cone ERGs amplitude reduced and delayed, electro-oculogram:absent EOG light rise"	""	""	""	""	""	""	""	""	"autosomal-recessive bestrophinopathy (ARB)"	""	""
"0000295784"	"04214"	"00403037"	"00000"	"Familial, autosomal recessive"	"31y"	"visual acuity (Snellen) /refraction: OS 20/60 +0.5/-0.5 @ 90 deg, OS 20/60 +0.5/-0.5 @ 90 deg, angle closure glaucoma, fundoscopy: macular edema, perifoveal yellow-white deposits; multiple small white dots in periphery, fluorescein angiography: early patchy hyperfluorescence, electroretinography (ERG): rod and cone full-field ERGs reduced, electro-oculogram:EOG light rise profoundly reduced"	""	""	""	""	""	""	""	""	"autosomal-recessive bestrophinopathy (ARB)"	""	""
"0000295785"	"04214"	"00403038"	"00000"	"Familial, autosomal recessive"	"28y"	"visual acuity (Snellen) /refraction: OD/OS 20/20 at presentation deg, angle closure glaucoma, fundoscopy: bilateral macular edema with white subretinal deposits in the midperiphery, fluorescein angiography: early patchy hyperfluorescence, electroretinography (ERG): severely reduced pattern ERG; rod and cone full-field ERGs reduced, electro-oculogram:EOG light rise profoundly reduced"	""	""	""	""	""	""	""	""	"autosomal-recessive bestrophinopathy (ARB)"	""	""
"0000295787"	"04214"	"00403040"	"00000"	"Familial, autosomal dominant"	"59y"	"childhood onset myopia first seen 38y - difficulty with reading; visual acuity: 6/9 both eyes, bilateral microcornea, microspherophakia with mild lens opacities, shallow anterior chambers and myopic optic discs; normal intraocular pressure; peripapillary chorioretinal atrophy and a post-oral band of atrophy and pigmentation running circumferentially through 360 degree; 44y - right pars plana lensectomy; 3 years later developed acute pupil-block glaucoma in the left eye, which responded to treatment; . successful left phacoemulsification and lens implant; 56y: intraocular pressure 36 mmHg in the right eye and 29 mmHg in the left, which fell to 28 mmHg and 20 mmHg, respectively, after treatment with Xalatan eye drops; visual acuity: 6/12 in each eye; no change in appearance of the fundus; undetectable pattern electroretinograms (ERG) in the right eye and markedly reduced responses in the left; full-field ERG found evidence of rod and cone dysfunction; unable to cooperate with electro-oculogram testing"	""	""	""	"altered splicing in an ESE dependent splice assay"	""	""	""	""	"autosomal dominant vitreoretinochoroidopathy (ADVIRC)"	""	""
"0000295788"	"04214"	"00403041"	"00000"	"Familial, autosomal dominant"	""	"47y: low-tension glaucoma, increased problems with night vision over the preceding 3 years; visual acuity: 6/12 in the right eye and 6/6 in the left; fundus examination: bilateral optic-disc cupping and a broad band of post-oral pigmentation and atrophy in each eye; normal pattern electroretinogram (ERG) but the full-field ERG found mild abnormality of rod and cone function. The electro-oculogram light rise was 200% in each eye (normal)"	""	""	""	"altered splicing in an ESE dependent splice assay"	""	""	""	""	"autosomal dominant vitreoretinochoroidopathy (ADVIRC)"	""	""
"0000295790"	"04214"	"00403043"	"00000"	"Familial, autosomal dominant"	"34y"	"best-corrected visual acuity right, left eye: 20/22, 20/50, fundus examination: scrambled egg-like lesion in both eyes with non-homogeneous deposition of yellowish material in the macular area clearly hyperautofluorescent on scanning laser ophthalmoscopy; optical coherence tomography: a subfoveal deposit of material at the retinal pigment epithelium level with an evident thickening in the right eye, left eye: the hyper-reflective material was localised in the outer retina, with a clear underlying subretinal fluid;  electroretinogram: normal, electro-oculogram: normal Arden ratio (1.85)"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295791"	"04214"	"00403044"	"00000"	"Familial, autosomal dominant"	"10y"	"best-corrected visual acuity right, left eye: 20/20, 20/33 in the left eye; funduscopy right eye: unremarkable, left eye: ��vitelliform�� macular lesion - fairly uniform hyperautofluorescence at scanning laser ophthalmoscopy analysis; optical coherence tomography examination, right eye: normal, left eye: hyper-reflecting material at the outer retina/retinal pigment epithelium interface associated with subretinal serous fluid; normal electroretinogram, normal electro-oculogram (Arden ratio right eye 2.58; left eye 1.78)"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295792"	"04214"	"00403045"	"00000"	"Familial, autosomal dominant"	"5y"	"best-corrected visual acuity: 20/50 both eyes; funduscopy pseudohypopyon-like macular lesion in both eyes; scanning laser ophthalmoscopy: mixed hypo- and hyper-autofluorescent zones , the latter corresponding to the clinically visible yellowish subretinal material; optical coherence tomography: a central serous retinal detachment with a diffuse thickening of the retinal pigment epithelium, more evident in the right eye; electro-oculogram: normal Arden ratio of 2.36 in the right eye and 2.97 in the left eye. an electroretinogram: not performed because of poor collaboration"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295793"	"04214"	"00403046"	"00000"	"Familial, autosomal dominant"	"58y"	"history of decreased vision in both eyes for 1 year; best-corrected visual acuity: 6/24 and 6/9 in the right and left eye respectively; funduscopy: typical egg yolk-like macular lesion in both eyes; light-peak to-dark-trough Arden ratio of the electro-oculogram: 1.57 and 1.37"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295794"	"04214"	"00403047"	"00000"	"Familial, autosomal dominant"	"64y"	"primary open angle glaucoma; best-corrected visual acuity right, left eye: 6/9, 6/18; macula - only mild pigmentary changes and drusen deposits; electro-oculogram: not available"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295795"	"04214"	"00403048"	"00000"	"Familial, autosomal dominant"	"21y"	"best-corrected visual acuity: normal, macular appearance in both eyes: normal, Arden ratio right/left eye: 1.37 / 1.43"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295796"	"04214"	"00403049"	"00000"	"Familial, autosomal dominant"	"25y"	"history of blurred vision in both eyes for 5 months; best-corrected visual acuity: 6/9 both eyes; funduscopy: characteristic egg yolk-like macular lesion left eye, scrambled egg appearance right eye. Arden ratio of the electro-oculogram: 1.22 and 1.23."	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295797"	"04214"	"00403050"	"00000"	"Familial, autosomal dominant"	"57y"	"blurred vision in the right eye for several years; best-corrected visual acuity right, left eye: 6/9, 6/6; funduscopy: small subretinal yellowish lesions in the macula of the right eye and normal macula in the left; electro-oculogram Arden ratio right / left eye: 1.26 / 1.86"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295798"	"04214"	"00403051"	"00000"	"Familial, autosomal dominant"	"77y"	"best-corrected visual acuity: 6/12 both eyes; funduscopy: small drusen deposits temporal to the fovea in both eyes; electro-oculogram Arden ratio right / left eye: 1.6 / 1.7"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295799"	"04214"	"00403052"	"00000"	"Familial, autosomal dominant"	"28y"	"best-corrected visual acuity: normal, macular appearance in both eyes: normal, electro-oculogram Arden ratio right / left eye: 1.17 / 1.20."	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295801"	"04214"	"00403054"	"00000"	"Familial, autosomal dominant"	""	"The phenotype of BVMD in this family belongs to geographic type"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295802"	"04214"	"00403055"	"00000"	"Familial, autosomal dominant"	""	"The phenotype of BVMD in this family belongs to geographic type"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295803"	"04214"	"00403056"	"00000"	"Familial, autosomal dominant"	""	"The phenotype of BVMD in this family belongs to geographic type"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295804"	"04214"	"00403057"	"00000"	"Familial, autosomal dominant"	""	"The phenotype of BVMD in this family belongs to geographic type"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295805"	"04214"	"00403058"	"00000"	"Familial, autosomal dominant"	""	"The phenotype of BVMD in this family belongs to geographic type"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295808"	"04214"	"00403061"	"00000"	"Familial, autosomal recessive"	"11y"	"visual acuity: nearly normal and stable over the past 3 years; contrast sensitivity: reduced both eyes; funduscopy: multiple yellowish-white, round, partially confluent lesions at the posterior pole and around the optic nerve with a well-demarcated edge; lesions were predominant around the vascular arcades and the fovea; left eye: two areas with subretinal fibrosis; full-field electroretinogram: delayed rod and rod-cone b-wave responses in both eyes, rod b wave responses did not return to baseline within the recording window used, amplitudes within normal limits, isolated rod photoreceptor responses using the bright flash stimulus: normal implicit time and amplitudes; pronounced negativity prior to op1 in both eyes; multifocal electroretinogram: responses reduced and delayed within the central 10deg; electro-oculogram: markedly reduced arden ratio in both eyes with a dark trough after 8 min (amplitude 1.92 uv) and light peak 6 min from the start of the light phase; retinal microstructure - macular scans: round- or dome-shaped deposits within the retinal pigment epithelium (RPE) reaching into the subretinal space. large deposits extended up to the outer plexiform layer in the left eye; retinal pigment epithelium thinning throughout the macula; photoreceptor layers detached from the retinal pigment epithelium; photoreceptor outer segments were thicker and elongated; small filament-like bridges visible between the photoreceptor outer segment layer and the retinal pigment epithelium; verhoeff\'s membrane, the interface between cone photoreceptors and the retinal pigment epithelium, was not identifiable in multiple scans of both eyes; inner retinal layers were unaffected"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000295809"	"04214"	"00403062"	"00000"	"Familial, autosomal dominant"	"41y"	"visual acuity right, left eye: 20/100, 20/40; stage, right eye: vitelliruptive_scrambled-egg, left eye: vitelliruptive_scrambled-egg; fluorescein angiography: both eyes: hyperfluorescence, passive leakage; both eyes: increased fundus autofluorescence corresponding with yellowish material; optical coherence tomography: both eyes: mixed hyporeflectivity and hyperreflectivity"	"30y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295810"	"04214"	"00403063"	"00000"	"Familial, autosomal dominant"	"17y"	"visual acuity right, left eye: 20/25, 20/100; stage, right eye: cicatricial, left eye: cicatricial; fluorescein angiography: both eyes: hyperfluorescence, passive leakage into scar; both eyes: decreased fundus autofluorescence of scar with residual areas of mildly increased fundus autofluorescence; optical coherence tomography: both eyes: adhesion between retina a underlying hyperreflective material, left eye: intraretinal cystoid changes"	"12y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295811"	"04214"	"00403064"	"00000"	"Familial, autosomal dominant"	"12y"	"visual acuity right, left eye: 20/40, 20/125; stage, right eye: vitelliform (/vitelliruptive_scrambled-egg), left eye: vitelliruptive_scrambled-egg/cicatricial/neovascular; fluorescein angiography: both eyes: hyperfluorescence, passive leakage into lesion; right eye: increased fundus autofluorescence corresponding with vitelliform material left eye: decreased fundus autofluorescence in area of scar with adjacent zone of increased fundus autofluorescence corresponding with yellowish material; optical coherence tomography: right eye: subretinal hyperreflective material left eye: adhesion between retina and underlying hyperreflective material, surrounded by remnant of hyporeflective subretinal material, intraretinal hyporeflective cystoid structure"	"10y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295812"	"04214"	"00403065"	"00000"	"Familial, autosomal dominant"	"41y"	"visual acuity right, left eye: 20/20, 20/20; stage, right eye: carrier, left eye: carrier; fluorescein angiography: both eyes: normal; both eyes: normal; optical coherence tomography: both eyes: normal"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295813"	"04214"	"00403066"	"00000"	"Familial, autosomal dominant"	"17y"	"visual acuity right, left eye: 20/80, 20/25; stage, right eye: vitelliruptive_scrambled-egg/cicatricial, left eye: vitelliruptive_scrambled-egg/cicatricial; fluorescein angiography: both eyes: hyperfluorescence, passive leakage; both eyes: mildly increased fundus autofluorescence; optical coherence tomography: both eyes: adhesion between retina a underlying hyperreflective material"	"<5y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295814"	"04214"	"00403067"	"00000"	"Familial, autosomal dominant"	"45y"	"visual acuity right, left eye: 20/200, 20/40; stage, right eye: pseudohypopyon/cicatricial/atrophic, left eye: vitelliruptive_scrambled-egg; fluorescein angiography: right eye: hyperfluorescence due to passive leakage, possibly from scar from old CNV, left eye: passive leakage and window defect; right eye: marked increased fundus autofluorescence of pseudohypopyon material, decreased fundus autofluorescence of atrophic/cicatricial part, mildly increased fundus autofluorescence of rest of the lesion, left eye: increased fundus autofluorescence of yellowish material; optical coherence tomography: right eye: hyperreflective pseudohypopyon, hyporeflective subretinal material, hyperreflective of cicatricial/atrophic area, which adheres to overlying thinned retina, left eye: hyporeflective subretinal material, some hyperreflective deposition"	"<5y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295815"	"04214"	"00403068"	"00000"	"Familial, autosomal dominant"	"11y"	"visual acuity right, left eye: 20/25, 20/25; stage, right eye: pseudohypopyon, left eye: pseudohypopyon/cicatricial/atrophic; fluorescein angiography: both eyes: hyperfluorescence of pseudohypopyon in earlier phase due to contribution of FAF, 2 F of pseudohypopyon in late phase, hyperfluorescence in superior part of lesion due to passive leakage; both eyes: marked increased fundus autofluorescence of pseudohypopyon material, mildly increased fundus autofluorescence of rest of the lesion; optical coherence tomography: both eyes: hyperreflective pseudohypopyon, hyporeflectivee subretinal material"	"5y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295816"	"04214"	"00403069"	"00000"	"Familial, autosomal dominant"	"26y"	"visual acuity right, left eye: 20/80, 20/70; stage, right eye: cicatricial, left eye: cicatricial/atrophic; fluorescein angiography: right eye: hyperfluorescence, passive leakage of scar, left eye: passive leakage and window defect; right eye: focal areas of increased fundus autofluorescence, left eye: decreased fundus autofluorescence of cicatricial zone; optical coherence tomography: right eye: adhesion between retina and underlying hyperreflective material, surrounded by hyporeflective subretinal material, left eye: hyperreflective of cicatricia atrophic area"	"16y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295817"	"04214"	"00403070"	"00000"	"Familial, autosomal dominant"	"17y"	"visual acuity right, left eye: 20/25, 20/100; stage, right eye: pseudohypopyon/vitelliruptive_scrambled-egg/cicatricial, left eye: vitelliruptive_scrambled-egg/cicatricial; fluorescein angiography: both eyes: hyperfluorescence, passive leakage into scar; both eyes: mildly increased fundus autofluorescence, left eye: decreased fundus autofluorescence in central part of scar; optical coherence tomography: both eyes: adhesion between retina a underlying hyperreflective cicatricial material, surrounded by hyporeflective subretinal material"	"<5y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295818"	"04214"	"00403071"	"00000"	"Familial, autosomal dominant"	"12y"	"visual acuity right, left eye: 20/25, 20/20; stage, right eye: vitelliruptive_scrambled-egg, left eye: vitelliruptive_scrambled-egg; fluorescein angiography: both eyes: hyperfluorescence, passive leakage; both eyes: increased fundus autofluorescence of yellowish material; optical coherence tomography: both eyes: hyporeflective subretinal material, some hyperreflective depositions"	"<5y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295819"	"04214"	"00403072"	"00000"	"Familial, autosomal dominant"	"42y"	"visual acuity right, left eye: 20/25, 20/32; stage, right eye: vitelliruptive_scrambled-egg/atrophic, left eye: atrophic; fluorescein angiography: right eye: hyperfluorescence, passive leakage, left eye: hyperfluorescence, passive leakage and window defect; both eyes: remnants of material with increased fundus autofluorescence, markedly decreased fundus autofluorescence of atrophic areas; optical coherence tomography: both eyes: hyporeflective subretinal material, hyperreflective of atrophic areas, which adheres to overlying thinned retina"	"42y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295820"	"04214"	"00403073"	"00000"	"Familial, autosomal dominant"	"35y"	"visual acuity right, left eye: 20/16, 20/16; stage, right eye: Discrete retinal pigment epithelium changes, left eye: Discrete retinal pigment epithelium changes; fluorescein angiography: both eyes: hyperfluorescence, window defect (hyperfluorescence on the fluorescein angiogram due to increased transmission of choroidal fluorescence as a result of atrophy of the overlying retinal pigment epithelium); both eyes: slightly increased fundus autofluorescence; optical coherence tomography: both eyes: discrete hyperreflective in foveal area"	"<5y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295821"	"04214"	"00403074"	"00000"	"Familial, autosomal dominant"	"47y"	"visual acuity right, left eye: 20/80, 20/50; stage, right eye: pseudohypopyon/cicatricial/atrophic, left eye: pseudohypopyon/cicatricial/atrophic; fluorescein angiography: both eyes: hyperfluorescence, passive leakage and window defect; both eyes: marked increased fundus autofluorescence of pseudohypopyon material, decreased fundus autofluorescence of atrophic/cicatricial part, mildly increased fundus autofluorescence of rest of the lesion; optical coherence tomography: both eyes: hyperreflective pseudohypopyon, hyporeflective subretinal material, hyperreflective of cicatricial/atrophic area, which adheres to overlying thinned retina"	"36y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295822"	"04214"	"00403075"	"00000"	"Familial, autosomal dominant"	"50y"	"visual acuity right, left eye: 20/25, 20/70; stage, right eye: atypical, left eye: atypical; fluorescein angiography: both eyes: hyperfluorescence, passive leakage; both eyes: radial pattern of fundus autofluorescence alterations , left eye: pseudohypopyonlike increased fundus autofluorescence; optical coherence tomography: both eyes: irreflective subretinal material"	"44y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295823"	"04214"	"00403076"	"00000"	"Familial, autosomal dominant"	"24y"	"visual acuity right, left eye: 20/25, 20/100; stage, right eye: vitelliruptive_scrambled-egg/cicatricial, left eye: vitelliruptive_scrambled-egg/cicatricial; fluorescein angiography: both eyes: hyperfluorescence, passive leakage; both eyes: remnants of increased fundus autofluorescence, decreased fundus autofluorescence of cicatricial parts; optical coherence tomography: both eyes: adhesion between retina and underlyinghyperreflective cicatricial material, surrounded by hyporeflective subretinal material"	"16y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295824"	"04214"	"00403077"	"00000"	"Familial, autosomal dominant"	"51y"	"visual acuity right, left eye: 20/40, 20/22; stage, right eye: vitelliform/vitelliruptive_scrambled-egg, left eye: vitelliform/vitelliruptive_scrambled-egg; fluorescein angiography: both eyes: hyperfluorescence, passive leakage; both eyes: increased fundus autofluorescence in zones corresponding with yellowish material; optical coherence tomography: both eyes: subretinal hyperreflective material"	"50y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295825"	"04214"	"00403078"	"00000"	"Familial, autosomal dominant"	"15y"	"visual acuity right, left eye: 20/80, 20/25; stage, right eye: vitelliruptive_scrambled-egg/cicatricial, left eye: vitelliruptive_scrambled-egg/cicatricial; fluorescein angiography: right eye: hyperfluorescence, passive leakage and window defect, left eye: hyperfluorescence, passive leakage; both eyes: irregular increased fundus autofluorescence, areas of decreased fundus autofluorescence within cicatricial zones; optical coherence tomography: right eye: adhesion between retina and underlying hyperreflective cicatricial material, surrounded by hyporeflective subretinal material, left eye: subretinal layer with hyperreflective material"	"12y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295826"	"04214"	"00403079"	"00000"	"Familial, autosomal dominant"	"17y"	"visual acuity right, left eye: 20/25, 20/20; stage, right eye: pseudohypopyon/vitelliruptive_scrambled-egg, left eye: vitelliruptive_scrambled-egg/cicatricial; fluorescein angiography: both eyes: hyperfluorescence, passive leakage; both eyes: increased fundus autofluorescence in zones corresponding with yellowish material; optical coherence tomography: both eyes: hyporeflective subretinal material with some hyperreflective deposits"	"2y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295827"	"04214"	"00403080"	"00000"	"Familial, autosomal dominant"	"44y"	"visual acuity right, left eye: 20/70, 20/33; stage, right eye: atrophic, left eye: atrophic; fluorescein angiography: both eyes: hyperfluorescence, window defect (hyperfluorescence on the fluorescein angiogram due to increased transmission of choroidal fluorescence as a result of atrophy of the overlying retinal pigment epithelium); both eyes: decreased fundus autofluorescence surrounded by ring of increased fundus autofluorescence; optical coherence tomography: both eyes: thinning of �outer red line� with underlying hyperreflectivity"	"36y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295828"	"04214"	"00403081"	"00000"	"Familial, autosomal dominant"	"53y"	"visual acuity right, left eye: 20/80, 20/200; stage, right eye: vitelliruptive_scrambled-egg/cicatricial/atrophic, left eye: vitelliruptive_scrambled-egg/cicatricial/atrophic (multifocal); fluorescein angiography: both eyes: hyperfluorescence, passive leakage and window defect (hyperfluorescence on the fluorescein angiogram due to increased transmission of choroidal fluorescence as a result of atrophy of the overlying retinal pigment epithelium); both eyes: multifocal lesions with increased fundus autofluorescence of yellowish depositions at outer border, decreased fundus autofluorescence centrally; optical coherence tomography: both eyes: hyporeflective material elevating retina, right eye: intraretinal cystoid changes"	"40y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295829"	"04214"	"00403082"	"00000"	"Familial, autosomal dominant"	"5y"	"best-corrected visual acuity: 20/40 both eyes, refraction: +5.25 sph both eyes, irides: green, fundus: vitelliform both eyes, ethnicity: Scandinavian, Irish, German, French"	""	""	""	""	""	""	""	""	"autosomal dominant vitreoretinochoroidopathy (ADVIRC)"	""	""
"0000295830"	"04214"	"00403083"	"00000"	"Familial, autosomal dominant"	"30y"	"best-corrected visual acuity: 20/20 both eyes, refraction: emmetropic, irides: green, fundus: normal, ethnicity: Scandinavian, Irish, German"	""	""	""	""	""	""	""	""	"autosomal dominant vitreoretinochoroidopathy (ADVIRC)"	""	""
"0000295831"	"04214"	"00403084"	"00000"	"Familial, autosomal dominant"	"54y"	"best-corrected visual acuity: 20/200 right eye, 20/20left eye, refraction: +2.25+075@180 right eye, irides: brown, fundus: atrophic right eye, ethnicity: East Indian"	""	""	""	""	""	""	""	""	"autosomal dominant vitreoretinochoroidopathy (ADVIRC)"	""	""
"0000295832"	"04214"	"00403085"	"00000"	"Familial, autosomal dominant"	"59y"	"best-corrected visual acuity: 20/70 right eye; 20/50left eye, refraction: +1.25+050@170 right eye, irides: green, fundus: atrophic both eyes, ethnicity: Norwegian, Jewish"	""	""	""	""	""	""	""	""	"autosomal dominant vitreoretinochoroidopathy (ADVIRC)"	""	""
"0000295866"	"04214"	"00403118"	"00000"	"Familial, autosomal dominant"	""	"reduced central vision beginning at age 5-10 y; night blindness; high hyperopia; progressive  visual symptoms; blindness registration around the end of the second decade of life"	"1y1m"	"1y1m"	"after falling down the stairs total serous retinal detachments associated with epiretinal membrane formation and severe retinal gliosis pale optic discs, no vessel attenuation"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000295867"	"04214"	"00403119"	"00000"	"Familial, autosomal dominant"	""	"reduced central vision beginning at age 5-10 y; night blindness; high hyperopia; progressive  visual symptoms; blindness registration around the end of the second decade of life; fundoscopy: panretinal dystrophy associated with flecks in the midperiphery, retinal gliosis, severe vascular attenuation, but relatively little peripheral pigment deposition, which is not typical of classical RP but is consistent with a severe retinal dystrophy affecting both rods and cones; extinguished electroretinograms in the dark-adapted state with residual light adapted responses"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000295868"	"04214"	"00403120"	"00000"	"Familial, autosomal dominant"	""	"reduced central vision beginning at age 5-10 y; night blindness; high hyperopia; progressive  visual symptoms; blindness registration around the end of the second decade of life; fundoscopy: panretinal dystrophy associated with flecks in the midperiphery, retinal gliosis, severe vascular attenuation, but relatively little peripheral pigment deposition, which is not typical of classical RP but is consistent with a severe retinal dystrophy affecting both rods and cones; extinguished electroretinograms in the dark-adapted state with residual light adapted responses"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000295869"	"04214"	"00403121"	"00000"	"Familial, autosomal dominant"	""	"reduced central vision beginning at age 5-10 y; night blindness; high hyperopia; progressive  visual symptoms; blindness registration around the end of the second decade of life; fundoscopy: panretinal dystrophy associated with flecks in the midperiphery, retinal gliosis, severe vascular attenuation, but relatively little peripheral pigment deposition, which is not typical of classical RP but is consistent with a severe retinal dystrophy affecting both rods and cones; extinguished electroretinograms in the dark-adapted state with residual light adapted responses"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000295870"	"04214"	"00403122"	"00000"	"Familial, autosomal dominant"	""	"reduced central vision beginning at age 5-10 y; night blindness; high hyperopia; progressive  visual symptoms; blindness registration around the end of the second decade of life; fundoscopy: panretinal dystrophy associated with flecks in the midperiphery, retinal gliosis, severe vascular attenuation, but relatively little peripheral pigment deposition, which is not typical of classical RP but is consistent with a severe retinal dystrophy affecting both rods and cones; extinguished electroretinograms in the dark-adapted state with residual light adapted responses"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000295871"	"04214"	"00403123"	"00000"	"Familial, autosomal dominant"	""	"reduced central vision beginning at age 5-10 y; night blindness; high hyperopia; progressive  visual symptoms; blindness registration around the end of the second decade of life; fundoscopy: panretinal dystrophy associated with flecks in the midperiphery, retinal gliosis, severe vascular attenuation, but relatively little peripheral pigment deposition, which is not typical of classical RP but is consistent with a severe retinal dystrophy affecting both rods and cones; extinguished electroretinograms in the dark-adapted state with residual light adapted responses"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000295872"	"04214"	"00403124"	"00000"	"Familial, autosomal dominant"	""	"reduced central vision beginning at age 5-10 y; night blindness; high hyperopia; progressive  visual symptoms; blindness registration around the end of the second decade of life; fundoscopy: panretinal dystrophy associated with flecks in the midperiphery, retinal gliosis, severe vascular attenuation, but relatively little peripheral pigment deposition, which is not typical of classical RP but is consistent with a severe retinal dystrophy affecting both rods and cones; extinguished electroretinograms in the dark-adapted state with residual light adapted responses"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000295873"	"04214"	"00403125"	"00000"	"Familial, autosomal dominant"	""	"reduced central vision beginning at age 5-10 y; night blindness; high hyperopia; progressive  visual symptoms; blindness registration around the end of the second decade of life; fundoscopy: panretinal dystrophy associated with flecks in the midperiphery, retinal gliosis, severe vascular attenuation, but relatively little peripheral pigment deposition, which is not typical of classical RP but is consistent with a severe retinal dystrophy affecting both rods and cones; extinguished electroretinograms in the dark-adapted state with residual light adapted responses"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000295874"	"04214"	"00403126"	"00000"	"Familial, autosomal dominant"	""	"reduced central vision beginning at age 5-10 y; night blindness; high hyperopia; progressive  visual symptoms; blindness registration around the end of the second decade of life; fundoscopy: panretinal dystrophy associated with flecks in the midperiphery, retinal gliosis, severe vascular attenuation, but relatively little peripheral pigment deposition, which is not typical of classical RP but is consistent with a severe retinal dystrophy affecting both rods and cones; extinguished electroretinograms in the dark-adapted state with residual light adapted responses"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000295875"	"04214"	"00403127"	"00000"	"Familial, autosomal dominant"	""	"reduced central vision beginning at age 5-10 y; night blindness; high hyperopia; progressive  visual symptoms; blindness registration around the end of the second decade of life; fundoscopy: panretinal dystrophy associated with flecks in the midperiphery, retinal gliosis, severe vascular attenuation, but relatively little peripheral pigment deposition, which is not typical of classical RP but is consistent with a severe retinal dystrophy affecting both rods and cones; extinguished electroretinograms in the dark-adapted state with residual light adapted responses"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000295876"	"04214"	"00403128"	"00000"	"Familial, autosomal dominant"	"30y"	"reduced central vision beginning at age 5-10 y; night blindness; high hyperopia; progressive  visual symptoms; blindness registration around the end of the second decade of life"	""	"25y"	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000295877"	"04214"	"00403129"	"00000"	"Familial, autosomal dominant"	"40y"	"peripheral visual loss but no night blindness at age 40 years; reduced visual acuity in the right eye as a result of a posterior subcapsular cataract, near-normal visual acuity in the left eye, constricted visual fields, and reduced rod and cone electroretinogram, vessel attenuation, dense pigmentary change in all quadrants of the peripheral retina, and an abrupt change to a more-normal-appearing central retina"	""	"25y"	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000295878"	"04214"	"00403130"	"00000"	"Familial, autosomal dominant"	"58y"	"high degree of myopia, asteroid hyalosis, reduced visual acuity and visual field; maculae appeared normal, normal autofluorescence and ocular coherence tomography; intraretinal bone spicule pigmentation in the peripheral retina only but without a sharp demarcation between normal and abnormal retina"	">50y"	""	"night blindness"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000295879"	"04214"	"00403131"	"00000"	"Familial, autosomal dominant"	""	"not tested in clinic"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000295880"	"04214"	"00403132"	"00000"	"Familial, autosomal dominant"	"45y"	"minimal symptoms, but examination revealed abrupt change from normal to abnormal retina in the periphery, suggestive of a bestrophinopathy"	""	""	""	""	""	""	""	""	"concentric retinitis pigmentosa"	""	""
"0000295881"	"04214"	"00403133"	"00000"	"Familial, autosomal dominant"	"23y"	"total serous retinal detachment with bilateral central retinal yellow foveal deposits and macular edema; visual acuity at 23y: counting fingers (right eye) and 6/36 (left eye); no recordable pattern electroretinogram, extinguished or reduced rod \"\"a\"\" and \"\"b\"\" wave responses and maximal bright white flash electroretinograms in the right and left eye, respectively; cone responses delayed with reduced amplitudes; bilateral macular edema and yellow deposits concentrated at the macula, scattered in the posterior pole - hyperautofluorescent"	"11y"	""	"night blindness and central vision loss right eye"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000295882"	"04214"	"00403134"	"00000"	"Familial, autosomal recessive"	"55y"	"visual acuity: 6/120 both eyes 55y; 23y VA severely reduced and electrophysiology testing revealed no recordable pattern electroretinogram, extinguished or reduced rod \"\"a\"\" and \"\"b\"\" wave responses and maximal bright white flash electroretinograms, and delayed cone responses with reduced amplitudes; bilateral macular edema and yellow deposits concentrated at the macula, scattered in the posterior pole - hyperautofluorescent"	"41y"	""	"fundus: yellow deposits, intraretinal bone spicule pigmentation, and attenuated blood vessels"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000295883"	"04214"	"00403135"	"00000"	"Familial, autosomal recessive"	"30y"	"bilateral macular edema and yellow deposits concentrated at the macula, scattered in the posterior pole - hyperautofluorescent; 30y: visual acuity were 6/12 (right) and 6/7.5 (left eye)"	""	""	"nyctalopia and central visual loss"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000295884"	"04214"	"00403137"	"00000"	"Familial, autosomal dominant"	""	"visual acuity: 20/100 both eyes, electro-oculogram (Arden index): not available, fundus appearance: vitelliform lesion both eyes"	"79y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295885"	"04214"	"00403138"	"00000"	"Familial, autosomal dominant"	""	"visual acuity: 20/100 both eyes, electro-oculogram (Arden index): reduced both eyes, fundus appearance: vitelliform lesion both eyes"	"85y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295886"	"04214"	"00403139"	"00000"	"Familial, autosomal dominant"	""	"visual acuity: 20/60 both eyes, electro-oculogram (Arden index): not available, fundus appearance: vitelliform lesion both eyes"	"48y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295887"	"04214"	"00403140"	"00000"	"Familial, autosomal dominant"	""	"visual acuity: 20/70 right eye,, electro-oculogram (Arden index): reduced both eyes, fundus appearance: vitelliform lesion"	"46y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295888"	"04214"	"00403141"	"00000"	"Familial, autosomal dominant"	""	"visual acuity: 20/50 both eyes, electro-oculogram (Arden index): reduced both eyes, fundus appearance: vitelliform lesion both eyes"	"40y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295889"	"04214"	"00403142"	"00000"	"Familial, autosomal dominant"	""	"visual acuity: 20/20 both eyes, electro-oculogram (Arden index): reduced both eyes, fundus appearance: normal both eyes"	"25y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295890"	"04214"	"00403143"	"00000"	"Familial, autosomal dominant"	""	"visual acuity: 20/20 both eyes, electro-oculogram (Arden index): reduced both eyes, fundus appearance: normal both eyes"	"23y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295891"	"04214"	"00403144"	"00000"	"Familial, autosomal dominant"	""	"visual acuity: 20/20 both eyes, electro-oculogram (Arden index): reduced both eyes, fundus appearance: previtelliform lesion both eyes"	"21y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295892"	"04214"	"00403145"	"00000"	"Familial, autosomal dominant"	""	"visual acuity: 20/20 both eyes, electro-oculogram (Arden index): reduced both eyes, fundus appearance: normal both eyes"	"18y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295893"	"04214"	"00403146"	"00000"	"Familial, autosomal dominant"	""	"visual acuity: 20/200 right eye,, electro-oculogram (Arden index): reduced both eyes, fundus appearance: choroidal neovascularization right eye and"	"8y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295894"	"04214"	"00403147"	"00000"	"Familial, autosomal dominant"	""	"visual acuity: 20/50 right eye, 20/100 left eye, electro-oculogram (Arden index): reduced both eyes, fundus appearance: atropic macula both eyes"	"56y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295895"	"04214"	"00403148"	"00000"	"Familial, autosomal dominant"	""	"visual acuity: 20/100 both eyes, electro-oculogram (Arden index): reduced both eyes, fundus appearance: vitelliruptive right eye, pseudohhypopyon left eye"	"39y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295896"	"04214"	"00403149"	"00000"	"Familial, autosomal dominant"	""	"visual acuity: 20/200 right eye, 20/400 left eye, electro-oculogram (Arden index): reduced both eyes, fundus appearance: atrophic macula both eyes"	"76y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295897"	"04214"	"00403150"	"00000"	"Familial, autosomal dominant"	""	"visual acuity: 20/30 both eyes, electro-oculogram (Arden index): reduced both eyes, fundus appearance: vitelliform lesion both eyes"	"39y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295898"	"04214"	"00403151"	"00000"	"Familial, autosomal dominant"	""	"visual acuity: 20/200 both eyes, electro-oculogram (Arden index): reduced both eyes, fundus appearance: atrophic macula both eyes"	"72y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295899"	"04214"	"00403152"	"00000"	"Familial, autosomal dominant"	""	"visual acuity: 20/20 both eyes, electro-oculogram (Arden index): not available, fundus appearance: normal both eyes"	"38y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295900"	"04214"	"00403153"	"00000"	"Familial, autosomal dominant"	""	"visual acuity: 20/30 both eyes, electro-oculogram (Arden index): not available, fundus appearance: vitelliform lesion both eyes"	"10y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295901"	"04214"	"00403154"	"00000"	"Familial, autosomal dominant"	""	"visual acuity: 20/20 both eyes, electro-oculogram (Arden index): not available, fundus appearance: normal both eyes"	"6y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295909"	"04214"	"00403166"	"00000"	"Familial, autosomal dominant"	"49y"	"best-corrected visual acuity right, left eye: 20/125, 20/160, atrophy/ atrophy"	"41y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295910"	"04214"	"00403167"	"00000"	"Familial, autosomal dominant"	"45y"	"best-corrected visual acuity right, left eye: 20/25, 20/25, vitelliruptive/ vitelliruptive"	"37y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295911"	"04214"	"00403168"	"00000"	"Familial, autosomal dominant"	"75y"	"best-corrected visual acuity right, left eye: 20/50, 20/125, pseudohypopion/ vitelliruptive"	"67y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295912"	"04214"	"00403169"	"00000"	"Familial, autosomal dominant"	"13y"	"best-corrected visual acuity right, left eye: 20/20, 20/20, none/ none"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295913"	"04214"	"00403170"	"00000"	"Familial, autosomal dominant"	"17y"	"best-corrected visual acuity right, left eye: 20/20, 20/20, none/ none"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295914"	"04214"	"00403171"	"00000"	"Familial, autosomal dominant"	"16y"	"best-corrected visual acuity right, left eye: 20/160, 20/160, fibrosis/ fibrosis, choroidal neovascularization both eyes"	"11y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295915"	"04214"	"00403172"	"00000"	"Familial, autosomal dominant"	"3y"	"best-corrected visual acuity right, left eye: 20/32, 20/32, vitelliform/ vitelliform"	"2y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295916"	"04214"	"00403173"	"00000"	"Familial, autosomal dominant"	"16y"	"best-corrected visual acuity right, left eye: 20/32, 20/40, vitelliruptive+multifocal/ vitelliruptive+multifocal"	"15y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295917"	"04214"	"00403174"	"00000"	"Familial, autosomal dominant"	"3y"	"best-corrected visual acuity right, left eye: 20/25, 20/25, vitelliform/ vitelliform"	"2y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295918"	"04214"	"00403175"	"00000"	"Familial, autosomal dominant"	"30y"	"best-corrected visual acuity right, left eye: 20/20, 20/20, none/ none"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295919"	"04214"	"00403176"	"00000"	"Familial, autosomal dominant"	"14y"	"best-corrected visual acuity right, left eye: 20/50, 20/40, fibrosis/ fibrosis, choroidal neovascularization both eyes"	"8y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295920"	"04214"	"00403177"	"00000"	"Familial, autosomal dominant"	"11y"	"best-corrected visual acuity right, left eye: 20/20, 20/25, pre-vitelliform/ pre-vitelliform"	"10y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295921"	"04214"	"00403178"	"00000"	"Familial, autosomal dominant"	"42y"	"best-corrected visual acuity right, left eye: 20/32, 20/25, pre-vitelliform+multifocal/ pre-vitelliform+multifocal"	"41y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295922"	"04214"	"00403179"	"00000"	"Familial, autosomal dominant"	"9y"	"best-corrected visual acuity right, left eye: 20/125, 20/125, vitelliruptive/ vitelliruptive"	"6y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295923"	"04214"	"00403180"	"00000"	"Familial, autosomal dominant"	"44y"	"best-corrected visual acuity right, left eye: 20/125, 20/40, atrophy/ atrophy"	"36y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295924"	"04214"	"00403181"	"00000"	"Familial, autosomal dominant"	"19y"	"best-corrected visual acuity right, left eye: 20/200, 20/40, fibrosis/ fibrosis, choroidal neovascularization right eye"	"11y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295925"	"04214"	"00403182"	"00000"	"Familial, autosomal dominant"	"27y"	"best-corrected visual acuity right, left eye: 20/50, 20/25, atrophy/ none"	"20y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295926"	"04214"	"00403183"	"00000"	"Familial, autosomal dominant"	"23y"	"best-corrected visual acuity right, left eye: 20/32, 20/50, pseudohypopyon/ atrophy, choroidal neovascularization left eye"	"16y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295927"	"04214"	"00403184"	"00000"	"Familial, autosomal dominant"	"10y"	"best-corrected visual acuity right, left eye: 20/20, 20/200, vitelliruptive/ fibrosis"	"9y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295928"	"04214"	"00403185"	"00000"	"Familial, autosomal dominant"	"36y"	"best-corrected visual acuity right, left eye: 20/63, 20/63, vitelliruptive/ vitelliruptive"	"30y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295929"	"04214"	"00403186"	"00000"	"Familial, autosomal dominant"	"70y"	"best-corrected visual acuity right, left eye: 20/50, 20/20, pseudohypopion/ none"	"60y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295930"	"04214"	"00403187"	"00000"	"Familial, autosomal dominant"	"44y"	"best-corrected visual acuity right, left eye: 20/50, 20/200, atrophy/ fibrosis"	"7y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000295931"	"04214"	"00403188"	"00000"	"Familial, autosomal dominant"	"12y"	"best-corrected visual acuity right, left eye: 20/20, 20/20, pre-vitelliform/ pre-vitelliform"	"12y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296284"	"04214"	"00403545"	"00000"	"Familial, autosomal dominant"	"67y"	"Asymptomatic, visual acuity at onset right / left eye: 1.0/1.0), visual acuity present right / left eye: 1.0/1.0, clinical findings right/left eye: previtelliform/previtelliform, normal, optical coherence tomography - foveal thickness (right/left eye, um):165/160, multifocal electroretinography: , rings 1+2 Amplitude (nV/deg ) / latency (ms): 35.4/27.5, rings 3+6 Amplitude (nV/deg ) / latency (ms): 17.4/29.2, electro-oculogram Arden ratio: 1.5/1.5, full-field ERG (rod, rod-cone, 30Hz flicker amplitudes, and implicit time): 104%, 86%, 92%,"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296285"	"04214"	"00403546"	"00000"	"Familial, autosomal dominant"	"59y"	"Asymptomatic, visual acuity at onset right / left eye: 1.0/1.0), visual acuity present right / left eye: 1.0/1.0, clinical findings right/left eye: previtelliform/previtelliform, normal, optical coherence tomography - foveal thickness (right/left eye, um):199/190, multifocal electroretinography: , rings 1+2 Amplitude (nV/deg ) / latency (ms): 27.8/30, rings 3+6 Amplitude (nV/deg ) / latency (ms): 9.3/30, electro-oculogram Arden ratio: 2.2/2.0, full-field ERG (rod, rod-cone, 30Hz flicker amplitudes, and implicit time): 41%, 55%, 25%,"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296286"	"04214"	"00403547"	"00000"	"Familial, autosomal dominant"	"10y"	"visual acuity at onset right / left eye: 0.1/0.4), visual acuity present right / left eye: 0.1/0.3, clinical findings right/left eye: atrophic+ fibrotic/atrophic+ fibrotic, unifocal, optical coherence tomography - foveal thickness (right/left eye, um):290/280, multifocal electroretinography: , rings 1+2 Amplitude (nV/deg ) / latency (ms): 5.1/31.6, rings 3+6 Amplitude (nV/deg ) / latency (ms): no data/no data, electro-oculogram Arden ratio: 1.0/1.0, full-field ERG (rod, rod-cone, 30Hz flicker amplitudes, and implicit time): 51%, 53%, 4"	"10y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296287"	"04214"	"00403548"	"00000"	"Familial, autosomal dominant"	"4y"	"visual acuity at onset right / left eye: 0.9/0.1), visual acuity present right / left eye: 0.1/0.3, clinical findings right/left eye: vitelliruptive/vitelliruptive, multifocal, optical coherence tomography - foveal thickness (right/left eye, um):406/341, multifocal electroretinography: , rings 1+2 Amplitude (nV/deg ) / latency (ms): 16.2/32.5, rings 3+6 Amplitude (nV/deg ) / latency (ms): 17.2/31.7, electro-oculogram Arden ratio: 1.0/1.1, full-field ERG (rod, rod-cone, 30Hz flicker amplitudes, and implicit time): 104%, 52%, 106%,"	"4y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296288"	"04214"	"00403549"	"00000"	"Familial, autosomal dominant"	"50y"	"visual acuity at onset right / left eye: 0.1/0.2), visual acuity present right / left eye: 0.1/0.2, clinical findings right/left eye: atrophic/atrophic, multifocal, optical coherence tomography - foveal thickness (right/left eye, um):110/83, multifocal electroretinography: , rings 1+2 Amplitude (nV/deg ) / latency (ms): 12.3/30, rings 3+6 Amplitude (nV/deg ) / latency (ms): 14.5/30, electro-oculogram Arden ratio: 1.4/1.4, full-field ERG (rod, rod-cone, 30Hz flicker amplitudes, and implicit time): 61%, 68%, 51%,"	"50y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296289"	"04214"	"00403550"	"00000"	"Familial, autosomal dominant"	"40y"	"visual acuity at onset right / left eye: 1.0/0.7), visual acuity present right / left eye: 1.0/0.7, clinical findings right/left eye: vitelliform/vitelliruptive, unifocal, optical coherence tomography - foveal thickness (right/left eye, um):232/199, multifocal electroretinography: , rings 1+2 Amplitude (nV/deg ) / latency (ms): 63.3/29.2, rings 3+6 Amplitude (nV/deg ) / latency (ms): 28.7/27.5, electro-oculogram Arden ratio: 1.1/1.0, full-field ERG (rod, rod-cone, 30Hz flicker amplitudes, and implicit time): 106%, 97%, 62%,"	"40y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296290"	"04214"	"00403551"	"00000"	"Familial, autosomal dominant"	"19y"	"Asymptomatic, visual acuity at onset right / left eye: 1.0/1.0), visual acuity present right / left eye: 1.0/1.0, clinical findings right/left eye: previtelliform/previtelliform, normal, optical coherence tomography - foveal thickness (right/left eye, um):159/199, multifocal electroretinography: , rings 1+2 Amplitude (nV/deg ) / latency (ms): 74.6/28.3, rings 3+6 Amplitude (nV/deg ) / latency (ms): 32.5/26.7, electro-oculogram Arden ratio: 1.0/1.0, full-field ERG (rod, rod-cone, 30Hz flicker amplitudes, and implicit time): 110%, 95%, 43%,"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296291"	"04214"	"00403552"	"00000"	"Familial, autosomal dominant"	"13y"	"visual acuity at onset right / left eye: 1.0/0.7), visual acuity present right / left eye: 1.0/0.2, clinical findings right/left eye: vitelliform/fibrotic, unifocal, optical coherence tomography - foveal thickness (right/left eye, um):298/240, multifocal electroretinography: , rings 1+2 Amplitude (nV/deg ) / latency (ms): 26.4/30, rings 3+6 Amplitude (nV/deg ) / latency (ms): 28.8/26.7, electro-oculogram Arden ratio: 1.4/1.2, full-field ERG (rod, rod-cone, 30Hz flicker amplitudes, and implicit time): 100%, 80%, 96%"	"13y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296292"	"04214"	"00403553"	"00000"	"Familial, autosomal dominant"	"10y"	"visual acuity at onset right / left eye: 0.6/0.6), visual acuity present right / left eye: 0.3/0.1, clinical findings right/left eye: vitelliruptive/vitelliruptive, multifocal, optical coherence tomography - foveal thickness (right/left eye, um):348/274, multifocal electroretinography: , rings 1+2 Amplitude (nV/deg ) / latency (ms): 17.1/32.5, rings 3+6 Amplitude (nV/deg ) / latency (ms): 22.7/28.3, electro-oculogram Arden ratio: 1.2/1.2, full-field ERG (rod, rod-cone, 30Hz flicker amplitudes, and implicit time): 111%, 69%, 130%,"	"10y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296293"	"04214"	"00403554"	"00000"	"Familial, autosomal dominant"	"50y"	"visual acuity at onset right / left eye: 0.1/0.1), visual acuity present right / left eye: counting fingers/counting fingers, clinical findings right/left eye: atrophic+ fibrotic/atrophic+ fibrotic, unifocal, optical coherence tomography - foveal thickness (right/left eye, um):175/133, multifocal electroretinography: , rings 1+2 Amplitude (nV/deg ) / latency (ms): 12/33.3, rings 3+6 Amplitude (nV/deg ) / latency (ms): 13.9/30, electro-oculogram Arden ratio: 1.0/1.1, full-field ERG (rod, rod-cone, 30Hz flicker amplitudes, and implicit time): 65%, 104%, 7"	"10y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296294"	"04214"	"00403555"	"00000"	"Familial, autosomal dominant"	"30y"	"visual acuity at onset right / left eye: 0.1/0.1), visual acuity present right / left eye: 0.1/0.1, clinical findings right/left eye: atrophic/atrophic, multifocal, optical coherence tomography - foveal thickness (right/left eye, um):398/257, multifocal electroretinography: , rings 1+2 Amplitude (nV/deg ) / latency (ms): 15/34.2, rings 3+6 Amplitude (nV/deg ) / latency (ms): 18.7/30, electro-oculogram Arden ratio: 1.0/1.0, full-field ERG (rod, rod-cone, 30Hz flicker amplitudes, and implicit time): 156%, 100%, 70%,"	"10y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296295"	"04214"	"00403556"	"00000"	"Familial, autosomal dominant"	"10y"	"visual acuity at onset right / left eye: 0.2/0.2), visual acuity present right / left eye: 0.5/0.9, clinical findings right/left eye: vitelliruptive/vitelliruptive+ fibrotic, unifocal, optical coherence tomography - foveal thickness (right/left eye, um):182/240, multifocal electroretinography: , rings 1+2 Amplitude (nV/deg ) / latency (ms): 32.5/27.5, rings 3+6 Amplitude (nV/deg ) / latency (ms): 33.3/27.5, electro-oculogram Arden ratio: 1.1/1.2, full-field ERG (rod, rod-cone, 30Hz flicker amplitudes, and implicit time): 106%, 100%, 221%"	"10y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296296"	"04214"	"00403557"	"00000"	"Familial, autosomal dominant"	"7y"	"visual acuity at onset right / left eye: 0.2/0.5), visual acuity present right / left eye: 0.2/0.5, clinical findings right/left eye: psedohypopyon/fibrotic, unifocal, optical coherence tomography - foveal thickness (right/left eye, um):581/307, multifocal electroretinography: not performed/, electro-oculogram Arden ratio: Not, full-field ERG (rod, rod-cone, 30Hz flicker amplitudes, and implicit time): not perform"	"7y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296297"	"04214"	"00403558"	"00000"	"Familial, autosomal dominant"	"30y"	"visual acuity at onset right / left eye: 0.8/0.8), visual acuity present right / left eye: 0.7/0.5, clinical findings right/left eye: vitelliruptive+atrophic/vitelliruptive+atrophic, multifocal, optical coherence tomography - foveal thickness (right/left eye, um):409/265, multifocal electroretinography: not performed, electro-oculogram Arden ratio: 1.0/0.9, full-field ERG (rod, rod-cone, 30Hz flicker amplitudes, and implicit time): 142%, 130%, 66%, 107%"	"30y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296298"	"04214"	"00403559"	"00000"	"Familial, autosomal dominant"	"10y"	"visual acuity at onset right / left eye: 0.8/0.8), visual acuity present right / left eye: 0.9/0.1, clinical findings right/left eye: vitelliruptive/fibrotic, unifocal right eye/multifocal left eye, optical coherence tomography - foveal thickness (right/left eye, um):282/323, multifocal electroretinography: not performed, electro-oculogram Arden ratio: 1.3/1.2, full-field ERG (rod, rod-cone, 30Hz flicker amplitudes, and implicit time): 142%, 105%, 58%, 10"	"10y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296299"	"04214"	"00403560"	"00000"	"Familial, autosomal dominant"	"41y"	"visual acuity at onset right / left eye: 0.8/0.8, visual acuity present right / left eye: 0.8/0.8, clinical findings right/left eye: vitelliruptive/vitelliruptive, multifocal, optical coherence tomography - foveal thickness (right/left eye, um):176/185, spectral Domain OCT foveal inner-outer segment junction: normal/focally disrupted, multifocal electroretinography: , rings 1+2 Amplitude (nV/deg ) / latency (ms): 30.2/31.7, rings 3+6 Amplitude (nV/deg ) / latency (ms): 16.1/31.7, electro-oculogram Arden ratio: 1.1/1.0, full-field ERG (rod, rod-cone, 30Hz flicker amplitudes, and implicit time): 104%, 90%, 63%,"	"41y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296300"	"04214"	"00403561"	"00000"	"Familial, autosomal dominant"	"38y"	"visual acuity at onset right / left eye: 0.1/1.0, visual acuity present right / left eye: 0.1/1.0, clinical findings right/left eye: vitelliruptive+atrophic+fibrotic/vitelliruptive, multifocal, optical coherence tomography - foveal thickness (right/left eye, um):115/108, spectral Domain OCT foveal inner-outer segment junction: absent/focally disrupted, multifocal electroretinography: , rings 1+2 Amplitude (nV/deg ) / latency (ms): 21/30.8, rings 3+6 Amplitude (nV/deg ) / latency (ms): 20.5/29.2, electro-oculogram Arden ratio: 1.2/1.1, full-field ERG (rod, rod-cone, 30Hz flicker amplitudes, and implicit time): Not performed"	"<10y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296301"	"04214"	"00403562"	"00000"	"Familial, autosomal dominant"	"7y"	"visual acuity at onset right / left eye: 0.05/0.7, visual acuity present right / left eye: 0.05/1.0, clinical findings right/left eye: atrophic+fibrotic/vitelliruptive, unifocal, optical coherence tomography - foveal thickness (right/left eye, um):110/156, spectral Domain OCT foveal inner-outer segment junction: absent/normal, multifocal electroretinography: , rings 1+2 Amplitude (nV/deg ) / latency (ms): 15.4/27.5, rings 3+6 Amplitude (nV/deg ) / latency (ms): 26.7/29.2, electro-oculogram Arden ratio: 1.1/1.1, full-field ERG (rod, rod-cone, 30Hz flicker amplitudes, and implicit time): 143%, 110%, 129"	"7y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296302"	"04214"	"00403563"	"00000"	"Familial, autosomal dominant"	"39y"	"visual acuity at onset right / left eye: 0.3/0.5, visual acuity present right / left eye: 0.2/0.6, clinical findings right/left eye: atrophic/atrophic, unifocal, optical coherence tomography - foveal thickness (right/left eye, um):61/76, spectral Domain OCT foveal inner-outer segment junction: absent/absent, multifocal electroretinography: , rings 1+2 Amplitude (nV/deg ) / latency (ms): 5.5/30.8, rings 3+6 Amplitude (nV/deg ) / latency (ms): 12.9/30, electro-oculogram Arden ratio: 1.4/1.5, full-field ERG (rod, rod-cone, 30Hz flicker amplitudes, and implicit time): 108%, 74%, 64%,"	"20y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296303"	"04214"	"00403564"	"00000"	"Familial, autosomal dominant"	"9y"	"visual acuity at onset right / left eye: 0.5/0.4, visual acuity present right / left eye: 0.5/0.4, clinical findings right/left eye: vitelliform/vitelliform, multifocal, optical coherence tomography - foveal thickness (right/left eye, um):155/244, spectral Domain OCT foveal inner-outer segment junction: normal/focally disrupted, multifocal electroretinography: not performed, rings 3+6 Amplitude (nV/deg ) / latency (ms): not performed, electro-oculogram Arden ratio: not performed, full-field ERG (rod, rod-cone, 30Hz flicker amplitudes, and implicit time): 35%, 50%, 60%, 9"	"9y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296304"	"04214"	"00403565"	"00000"	"Familial, autosomal dominant"	"40y"	"Asymptomatic, visual acuity at onset right / left eye: 1.0/1.0, visual acuity present right / left eye: 1.0/1.0, clinical findings right/left eye: previtelliform/previtelliform, normal, optical coherence tomography - foveal thickness (right/left eye, um):158/173, spectral Domain OCT foveal inner-outer segment junction: normal/normal, multifocal electroretinography: , rings 1+2 Amplitude (nV/deg ) / latency (ms): 46.4/29.2, rings 3+6 Amplitude (nV/deg ) / latency (ms): 20.5/28.3, electro-oculogram Arden ratio: 1.4/1.4, full-field ERG (rod, rod-cone, 30Hz flicker amplitudes, and implicit time): 153%, 91%, 90%,"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296305"	"04214"	"00403566"	"00000"	"Familial, autosomal dominant"	"6y"	"visual acuity at onset right / left eye: 0.8/0.8, visual acuity present right / left eye: 0.8/0.8, clinical findings right/left eye: vitelliform/vitelliform, unifocal, optical coherence tomography - foveal thickness (right/left eye, um):95/155, spectral Domain OCT foveal inner-outer segment junction: focally disrupted/focally disrupted, multifocal electroretinography: not performed, rings 3+6 Amplitude (nV/deg ) / latency (ms): not performed, electro-oculogram Arden ratio: not performed, full-field ERG (rod, rod-cone, 30Hz flicker amplitudes, and implicit time): not performed, ,"	"6y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296306"	"04214"	"00403567"	"00000"	"Familial, autosomal dominant"	"47y"	"visual acuity at onset right / left eye: 0.6/0.9, visual acuity present right / left eye: 0.9/0.5, clinical findings right/left eye: vitelliruptive+atrophic/vitelliruptive, multifocal, optical coherence tomography - foveal thickness (right/left eye, um):208/174, spectral Domain OCT foveal inner-outer segment junction: focally disrupted/focally disrupted, multifocal electroretinography: , rings 1+2 Amplitude (nV/deg ) / latency (ms): 20.8/28.3, rings 3+6 Amplitude (nV/deg ) / latency (ms): 16.1/29.2, electro-oculogram Arden ratio: 1.57/0.93, full-field ERG (rod, rod-cone, 30Hz flicker amplitudes, and implicit time): 108%, 120%, 75%,"	"40y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296307"	"04214"	"00403568"	"00000"	"Familial, autosomal dominant"	"30y"	"visual acuity at onset right / left eye: 0.1/0.6, visual acuity present right / left eye: 0.2/0.3, clinical findings right/left eye: vitelliruptive+pseudohypopyon/vitelliruptive+pseudohypopyon, unifocal, optical coherence tomography - foveal thickness (right/left eye, um):323/315, spectral Domain OCT foveal inner-outer segment junction: absent/focally disrupted, multifocal electroretinography: , rings 1+2 Amplitude (nV/deg ) / latency (ms): 12.9/26.7, rings 3+6 Amplitude (nV/deg ) / latency (ms): 13.5/27.5, electro-oculogram Arden ratio: 1.87/1.85, full-field ERG (rod, rod-cone, 30Hz flicker amplitudes, and implicit time): 84%, 98%, 66%,"	"30y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296308"	"04214"	"00403569"	"00000"	"Familial, autosomal dominant"	"63y"	"history, age 63y: vision loss noted at  37 years; blind by 47 years, best corrected visual acuity right, left eye: no perception of light,  no perception of light, color vision: not available, intraocular pressure [mmHg]: 32 right eye, 36 left eye, anterior segment (both eyes): Fibrin in anterior chamber, rubeosis iris, dense cataracts, fundus: no view, comment:B scan no evidence of  mass or retinal detachment; electroretinograms non-recordable"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296309"	"04214"	"00403570"	"00000"	"Familial, autosomal dominant"	"58y"	"history, age 42y: nyctalopia for 2 years, best corrected visual acuity right, left eye: 20/20,  20/25, color vision: normal, intraocular pressure [mmHg]: 14 both eyes, anterior segment (both eyes): pseudophakia, fundus: myopic discs, mild vascular attenuation, band of peripheral retinal hyperpigmentation, comment:Goldmann visual field: central 10deg; electroretinogram non-recordable; age 44y: extracapsular cataract extraction (38 years); vision loss right eye over 2 years, best corrected visual acuity right, left eye: light perception,  20/25, color vision: not available, fundus: area of subfoveal retinal pigment; age 58y: vision loss left eye over 10 years, best corrected visual acuity right, left eye: light perception,  light perception, color vision: not available, anterior segment (both eyes): CD, 11 mm (right eye), 10 mm (left eye); iris dysgenesis, fundus: pale discs, marked vessel attenuation, diffuse choriocapillary atrophy, comment:optical coherence tomography: signicant macular thinning"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296310"	"04214"	"00403571"	"00000"	"Familial, autosomal dominant"	"27y"	"history, age 27y: laser iridotomies at 17 years, best corrected visual acuity right, left eye: 20/20,  20/20, color vision: normal, intraocular pressure [mmHg]: 18 right eye, anterior segment (both eyes): CD, 9 mm; anterior chamber depth, 1.75 mm; iris dysgenesis, fundus: dysplastic optic nerves, normal vessels, annular retinal pigmentary changes in far periphery, comment:Goldmann visual field  normal; electroretinogram: low normal rod and cone responses with no IT delay; electro- oculogram Arden ratio: 1.50; optical coherence tomography: normal central retinal thickness"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296313"	"04214"	"00403574"	"00000"	"Familial, autosomal dominant"	"75y"	"photophobia, poor and blurred vision"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296314"	"04214"	"00403575"	"00000"	"Familial, autosomal dominant"	"46y"	"bilateral, slowly progressive decreased visual acuity noticed at 41y, with photophobia and metamorphopsia added 2 years after; visual acuity r right, left eye: 4/200, 20/400; fundus examination showed temporal pale optic discs and around vitelliform macular lesion measuring almost 1 diameter of the optic disc in both eyes. electroretinogram was normal, while electrooculogram showed an Arden index below 1.5 both eyes. retinal fluorangiography: marked hypofluorescence in the zone covered by the lesion"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296315"	"04214"	"00403576"	"00000"	"Familial, autosomal dominant"	"41y"	"decreased and blurred vision and photophobia; visual acuity: 20/200 right eye, hand movements left eye; fundoscopy: scarring macular lesion right eye, \"\"pseudohypopyon\"\" lesion left"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296316"	"04214"	"00403577"	"00000"	"Familial, autosomal dominant"	""	"young, asymptomatic individual; no clinical testing"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296317"	"04214"	"00403578"	"00000"	"Familial, autosomal dominant"	""	"young, asymptomatic individual; no clinical testing"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296318"	"04214"	"00403579"	"00000"	"Familial, autosomal dominant"	""	"young, asymptomatic individual; no clinical testing"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296319"	"04214"	"00403580"	"00000"	"Familial, autosomal dominant"	"6y"	"no funduscopic anomalies, optical coherence tomography: no retinal lesions; young, asymptomatic individual"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296320"	"04214"	"00403581"	"00000"	"Familial, autosomal dominant"	"62y"	"diminished bilateral visual acuity 57y; fundoscopy: vitelliform macular lesion both eyes; these lesions developed a fluid level of a yellow-colored vitelline substance; retinal fluorangiography: partial blockage of fluorescence with non-homogenous hyperfluorescence in both eyes; later, photophobia and poor adaptability to darkness; at present: 2/200 both eyes; funduscopy: a 5DD foveal and parafoveolar hypopigmented lesion along with perilesional hypopigmented changes, compatible with retinal pigment epithelium atrophy right eye; optic disc extensively elevated foveolar yellowish subretinal lesion was seen left eye; optical coherence tomography: outer retina splitting subfoveal and retinal pigment epithelium detachment, both eyes"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296321"	"04214"	"00403582"	"00000"	"Familial, autosomal dominant"	""	"diminished visual acuity and photophobia, fundoscopy: well demarcated areas with yellowish deposits and central subretinal fibrosis; optical coherence tomography: serous retinal detachment surrounding an elevated subfoveal mass apparently depending of the retinal pigment epithelium right eye; neurosensorial retinal detachment with medium-to high reflectivity suggesting adhesions and subretinal fibrosis"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296322"	"04214"	"00403583"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296323"	"04214"	"00403584"	"00000"	"Familial, autosomal dominant"	"8y"	"Fundoscopy: round hypopigmentary subfoveal lesion in both eyes; optical coherence tomography: extrafoveal serous retinal detachment between the retinal pigment epithelium and neurosensorial retina left eye"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296325"	"04214"	"00403592"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296326"	"04214"	"00403593"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296327"	"04214"	"00403594"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296328"	"04214"	"00403595"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296329"	"04214"	"00403596"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296330"	"04214"	"00403597"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296331"	"04214"	"00403598"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296332"	"04214"	"00403599"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296333"	"04214"	"00403600"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296334"	"04214"	"00403601"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296335"	"04214"	"00403602"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296336"	"04214"	"00403603"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296337"	"04214"	"00403604"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296338"	"04214"	"00403605"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296339"	"04214"	"00403606"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296340"	"04214"	"00403607"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296341"	"04214"	"00403608"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296342"	"04214"	"00403609"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296343"	"04214"	"00403610"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296344"	"04214"	"00403611"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296345"	"04214"	"00403612"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296346"	"04214"	"00403613"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296347"	"04214"	"00403614"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296348"	"04214"	"00403615"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296349"	"04214"	"00403616"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296350"	"04214"	"00403617"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296351"	"04214"	"00403618"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296352"	"04214"	"00403619"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296353"	"04214"	"00403620"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296354"	"04214"	"00403621"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296355"	"04214"	"00403622"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296356"	"04214"	"00403623"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296357"	"04214"	"00403624"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296358"	"04214"	"00403625"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296359"	"04214"	"00403626"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296360"	"04214"	"00403627"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296361"	"04214"	"00403628"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296362"	"04214"	"00403629"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296363"	"04214"	"00403630"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296364"	"04214"	"00403631"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296365"	"04214"	"00403632"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296378"	"04214"	"00403683"	"00000"	"Familial, autosomal recessive"	"44y"	"visual acuity (logMAR equivalent) 1.0/0.8, angle closure glaucoma, macular edema on the right eye; pale deposits in the fovea and midperiphery of both eyes, electroretinogram: pattern ERG undetectable on the right, normal on the left; subnormal rod ERGs and bright flash ERG a-waves bilaterally; delayed and subnormal 30Hz flicker ERGs bilaterally, electro-oculogram:markedly subnormal EOG light rise bilaterally"	""	"19y"	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	"macular dystrophy"	""
"0000296379"	"04214"	"00403684"	"00000"	"Familial, autosomal recessive"	"45y"	"visual acuity (logMAR equivalent) 1.0/0.8, angle closure glaucoma, atrophic lesions in both maculae; pale deposits in the fovea and around the vascular arcades of both eyes, electroretinogram: pattern ERG undetectable bilaterally; subnormal rod ERGs and bright flash ERG a-waves bilaterally; delayed and subnormal 30Hz flicker ERGs bilaterally, electro-oculogram:not presented"	""	"11y"	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	"macular dystrophy"	""
"0000296392"	"04214"	"00403698"	"00000"	"Familial, autosomal dominant"	"18y"	"best-corrected visual acuity right, left eye: 20/32, 20/25, preferential hyperacuity perimetry visual field defect index: 0.81, 1.06, disease stage right, left eye: pseudohypopyon, vitelliruptive"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296393"	"04214"	"00403699"	"00000"	"Familial, autosomal dominant"	"44y"	"best-corrected visual acuity right, left eye: 20/50, 20/200, preferential hyperacuity perimetry visual field defect index: 0.73 , 2.31, disease stage right, left eye:  vitelliform, pseudohypopyon"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296394"	"04214"	"00403700"	"00000"	"Familial, autosomal dominant"	"23y"	"best-corrected visual acuity right, left eye: 20/100, 20/125, preferential hyperacuity perimetry visual field defect index: 2.54, 3.16, disease stage right, left eye:  fibrotic, fibrotic"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296395"	"04214"	"00403701"	"00000"	"Familial, autosomal dominant"	"50y"	"best-corrected visual acuity right, left eye: 20/200, 20/200 , preferential hyperacuity perimetry visual field defect index: 1.67, 2.78, disease stage right, left eye:  atrophic, atrophic"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296396"	"04214"	"00403702"	"00000"	"Familial, autosomal dominant"	"11y"	"best-corrected visual acuity right, left eye: 20/25, 20/25, preferential hyperacuity perimetry visual field defect index: 1.98, 1.56, disease stage right, left eye:  pseudohypopyon, pseudohypopyon"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296397"	"04214"	"00403703"	"00000"	"Familial, autosomal dominant"	"20y"	"best-corrected visual acuity right, left eye: 20/200, 20/80, preferential hyperacuity perimetry visual field defect index: 1.74, 1.07, disease stage right, left eye:  fibrotic, fibrotic"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296398"	"04214"	"00403704"	"00000"	"Familial, autosomal dominant"	"45y"	"best-corrected visual acuity right, left eye: 20/100, 20/40, preferential hyperacuity perimetry visual field defect index: 0.91, 0.64, disease stage right, left eye:  atrophic, atrophic"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296399"	"04214"	"00403705"	"00000"	"Familial, autosomal dominant"	"41y"	"best-corrected visual acuity right, left eye: 20/50, 20/200, preferential hyperacuity perimetry visual field defect index: 1.61, 2.83, disease stage right, left eye:  atrophic, fibrotic"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296400"	"04214"	"00403706"	"00000"	"Familial, autosomal dominant"	"12y"	"best-corrected visual acuity right, left eye: 20/20, 20/20, preferential hyperacuity perimetry visual field defect index: 0.92, 0, disease stage right, left eye:  previtelliform, previtelliform"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296401"	"04214"	"00403707"	"00000"	"Familial, autosomal dominant"	"36y"	"best-corrected visual acuity right, left eye: 20/63, 20/63, preferential hyperacuity perimetry visual field defect index: 0.11, 0.37, disease stage right, left eye:  vitelliruptive, vitelliruptive"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296402"	"04214"	"00403708"	"00000"	"Familial, autosomal dominant"	"11y"	"best-corrected visual acuity right, left eye: 20/25, 20/200, preferential hyperacuity perimetry visual field defect index: 0.14, 1.84, disease stage right, left eye:  vitelliruptive, fibrotic"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296403"	"04214"	"00403709"	"00000"	"Familial, autosomal dominant"	"71y"	"best-corrected visual acuity right, left eye: 20/50, 20/20, preferential hyperacuity perimetry visual field defect index: 1.03, 0, disease stage right, left eye:  pseudohypopyon, previtelliform"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296404"	"04214"	"00403710"	"00000"	"Familial, autosomal dominant"	"78y"	"best-corrected visual acuity right, left eye: 20/40, 20/160, preferential hyperacuity perimetry visual field defect index: 0.85, 3.99, disease stage right, left eye:  vitelliform, atrophic"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296405"	"04214"	"00403711"	"00000"	"Familial, autosomal dominant"	"47y"	"best-corrected visual acuity right, left eye: 20/20, 20/32, preferential hyperacuity perimetry visual field defect index: 0, 0.71, disease stage right, left eye:  previtelliform, previtelliform"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296406"	"04214"	"00403712"	"00000"	"Familial, autosomal dominant"	"83y"	"best-corrected visual acuity right, left eye: 20/32, 20/200, preferential hyperacuity perimetry visual field defect index: 1.75, 2.14, disease stage right, left eye:  pseudohypopyon, atrophic"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296424"	"04214"	"00403728"	"00000"	"Familial, autosomal recessive"	"73y"	"visual acuity right, left eye: not available, fundoscopy macula: not available, periphery: not available, electrooculogram: not available, electroretinogram: not available"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform"	""	""
"0000296425"	"04214"	"00403729"	"00000"	"Familial, autosomal recessive"	"46y"	"visual acuity: 20/20, 20/20, fundoscopy macula: normal, periphery: normal, electrooculogram: not available, electroretinogram: not available"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform"	""	""
"0000296426"	"04214"	"00403730"	"00000"	"Familial, autosomal recessive"	"41y"	"visual acuity: 20/20, 20/20, fundoscopy macula: normal, periphery: normal, electrooculogram: not available, electroretinogram: not available"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform"	""	""
"0000296427"	"04214"	"00403731"	"00000"	"Familial, autosomal recessive"	"35y"	"visual acuity: 20/20, 20/20, fundoscopy macula: normal, periphery: normal, electrooculogram: not available, electroretinogram: not available"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform"	""	""
"0000296428"	"04214"	"00403732"	"00000"	"Familial, autosomal recessive"	"29y"	"visual acuity: 20/20, 20/20, fundoscopy macula: normal, periphery: normal, electrooculogram: not available, electroretinogram: not available"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform"	""	""
"0000296429"	"04214"	"00403733"	"00000"	"Familial, autosomal recessive"	"12y"	"visual acuity: 20/20, 20/25, fundoscopy macula: atrophic lesion with pigmentary changes, periphery: drusenoid deposits and flecks along the arcades, electrooculogram: right: 1.08; left: 1.17, electroretinogram: mildly reduced scotopic amplitudes; normal photopic responses"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform"	""	""
"0000296430"	"04214"	"00403734"	"00000"	"Familial, autosomal recessive"	"3y"	"visual acuity: 20/66, 20/66, fundoscopy macula: yellow deposit at the level of the retinal pigment epithelium with overlying atrophy; some deposits coalesced, periphery: punctate yellow deposits along the vascular arcades, some appear to have coalesced, electrooculogram: not available, electroretinogram: reduced scotopic and photopic responses (electroretinography exam under anesthesia)"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform"	""	""
"0000296431"	"04214"	"00403735"	"00000"	"Familial, autosomal recessive"	"49y"	"visual acuity: 20/20, 20/20, fundoscopy macula: normal, periphery: normal, electrooculogram: not available, electroretinogram: not available"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform"	""	""
"0000296432"	"04214"	"00403736"	"00000"	"Familial, autosomal recessive"	"47y"	"visual acuity: 20/20, 20/20, fundoscopy macula: normal, periphery: normal, electrooculogram: not available, electroretinogram: not available"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform"	""	""
"0000296433"	"04214"	"00403737"	"00000"	"Familial, autosomal recessive"	"16y"	"visual acuity: 20/40, 20/40, fundoscopy macula: yellow deposit at the level of the retinal pigment epithelium in the inferior nasal foveal region with overlying and surrounding atrophy, periphery: yellow deep retinal lesions midperipherally and along arcades, electrooculogram: right: 1.06, left: 1.06, electroretinogram: normal"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform"	""	""
"0000296434"	"04214"	"00403738"	"00000"	"Familial, autosomal recessive"	""	"visual acuity: 20/20, 20/20, fundoscopy macula: no visual impairment, periphery: no visual impairment, electrooculogram: right: 2.09, left: 1.86, electroretinogram: not available"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform"	""	""
"0000296435"	"04214"	"00403739"	"00000"	"Familial, autosomal recessive"	""	"visual acuity: 20/20, 20/20, fundoscopy macula: normal with isolated retinal hemorrhage, periphery: normal, electrooculogram: right: 2.22, left: 2.2, electroretinogram: not available"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform"	""	""
"0000296436"	"04214"	"00403740"	"00000"	"Familial, autosomal recessive"	"14y"	"visual acuity: 20/80, 20/30, fundoscopy macula: vitelliform lesion in right eye; vitelliform lesion with pigment in left eye, periphery: normal, electrooculogram: right: 1.64, left: 1.4, electroretinogram: scotopic responses below normal, photopic responses normal"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform"	""	""
"0000296437"	"04214"	"00403741"	"00000"	"Familial, autosomal recessive"	"19y"	"visual acuity: 20/20, 20/200, fundoscopy macula: classic best lesions, periphery: normal, electrooculogram: right: 1.47, left: 1.26, electroretinogram: not available"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform"	""	""
"0000296438"	"04214"	"00403742"	"00000"	"Familial, autosomal recessive"	"11y"	"visual acuity: 20/25, 20/40, fundoscopy macula: subtle anomalies, periphery: normal, electrooculogram: right: 2.6, left: 2.25, electroretinogram: not available"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform"	""	""
"0000296439"	"04214"	"00403743"	"00000"	"Familial, autosomal recessive"	"32y"	"visual acuity: 20/80, 20/400, fundoscopy macula: hyperpigmentation in right eye; subtle irregular yellow lesion in left eye, periphery: crystalline specks along the arcades, electrooculogram: right: 1.2, left: 1.3, electroretinogram: normal"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform"	""	""
"0000296440"	"04214"	"00403744"	"00000"	"Familial, autosomal recessive"	"17y"	"visual acuity: not available, fundoscopy macula: subtle lesions in both eyes, periphery: normal, electrooculogram: right: 1.19, left: 1.47, electroretinogram: reduced scotopic and photopic responses"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform"	""	""
"0000296441"	"04214"	"00403745"	"00000"	"Familial, autosomal recessive"	"41y"	"visual acuity: 20/20, 20/200, fundoscopy macula: hyperpigmentation in right eye; scarring in left eye, periphery: normal, electrooculogram: right: ;1.0, left: ;1.0, electroretinogram: normal"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform"	""	""
"0000296442"	"04214"	"00403746"	"00000"	"Familial, autosomal recessive"	"39y"	"visual acuity: 6/350, 20/400, fundoscopy macula: cystic lesions with scarring and yellow flecks, periphery: yellow white spots along the arcades, electrooculogram: right: 1.11, left: 1.30, electroretinogram: scotopic responses below normal, normal photopic responses"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform"	""	""
"0000296443"	"04214"	"00403747"	"00000"	"Familial, autosomal recessive"	"25y"	"visual acuity: 20/30, 20/30, fundoscopy macula: subretinal fibrosis, scattered round deposits, periphery: subretinal fibrosis, scattered round deposits, electrooculogram: na, electroretinogram: not available"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform"	""	""
"0000296444"	"04214"	"00403748"	"00000"	"Familial, autosomal recessive"	"30y"	"visual acuity: 20/50, 20/30, fundoscopy macula: drusen and retinal pigment epithelium changes described, periphery: drusen and retinal pigment epithelium changes described, electrooculogram: right: 1.38, left: 3.6, electroretinogram: not available"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform"	""	""
"0000296451"	"04214"	"00403753"	"00000"	"Familial, autosomal dominant"	"48y"	"visual acuity: 0.200/200, electro-oculogram (Arden ratio: right eye/left eye): 315/286, funduscopy: normal, optical coherence tomography: normal, flash electroretinograms: normal, multifocal electroretinograms: normal"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296452"	"04214"	"00403754"	"00000"	"Familial, autosomal dominant"	"44y"	"visual acuity: 0.200/200, electro-oculogram (Arden ratio: right eye/left eye): 145/138, funduscopy: normal, optical coherence tomography: normal, flash electroretinograms: normal, multifocal electroretinograms: normal"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296453"	"04214"	"00403755"	"00000"	"Familial, autosomal dominant"	"33y"	"visual acuity: 0.200/200, electro-oculogram (Arden ratio: right eye/left eye): 145/198, funduscopy: normal, optical coherence tomography: normal, flash electroretinograms: normal, multifocal electroretinograms: normal"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296454"	"04214"	"00403756"	"00000"	"Familial, autosomal dominant"	"23y"	"visual acuity: 20/200 (right eye), 130/200 (left eye), electro-oculogram (Arden ratio: right eye/left eye): 129/111, funduscopy: typical vitelliform lesions in both eyes, optical coherence tomography: disruption of the photoreceptor layer / highly reflective materiel at the rpe layer in both eyes, flash electroretinograms: dramatic decrease of the electroretinogram responses  , multifocal electroretinograms: retinal electrogenesis of the central cones severely altered"	"6y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296455"	"04214"	"00403757"	"00000"	"Familial, autosomal dominant"	"19y"	"visual acuity: 0.200/200, electro-oculogram (Arden ratio: right eye/left eye): 124/130, funduscopy: normal, optical coherence tomography: normal, flash electroretinograms: normal, multifocal electroretinograms: normal"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296456"	"04214"	"00403758"	"00000"	"Familial, autosomal dominant"	"9y"	"visual acuity: 30/200 (right eye), 200/200 (left eye), electro-oculogram (Arden ratio: right eye/left eye): 263/156, funduscopy: typical (right eye) or faded (left eye) vitelliform lesions, optical coherence tomography: disruption of the photorecepto r layer (right eye), abnormal thickness of the foveal region (left eye) , flash electroretinograms: dramatic decrease of the electroretinogram responses  , multifocal electroretinograms:"	"4y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296470"	"04214"	"00403773"	"00000"	"Familial, autosomal recessive"	"6y"	"visual acuity at presentation: 20/ 200 right eye with an atypical subfoveal vitelliform scar and 20/16 left eye with asymptomatic atypical vitelliform deposits extending along the inferotemporal arcade, most clearly seen with fundus autofluorescence; 6y =electro-oculogram Arden ratio: 1.1 right eye and 1.4 left eye; full-field cone-driven flash electroretinograms: low normal in amplitude to transient stimuli (80-90 uV); normal to flicker stimuli (~100 uV) but delayed in timing, much more so to flicker stimuli (transient: right eye, 31 ms, left eye, ms; flicker: 43 ms in both eyes).19; rod-driven and mixed electroretinograms: normal; rapid vision loss in the left eye (20/200) over a period of several months following development of a subfoveal choroidal neovascularization 6y; fundus examination: left eye: change in appearance of the vitelliform lesions compared with baseline and the presence of subretinal blood and fluid; leakage at and around the foveal region was seen on intravenous fluorescein angiography consistent with the presence of a neovascular membrane in the left eye; during the examination under anesthesia, a progressively filling neovascular stalk could be clearly seen; spectral-domain optical coherence tomography: the fluid pockets and the vitelliform lesions which in the left eye were accompanied by the noted clear-cut neovascular component; fundus autofluorescence: findings in the right/left eye: apparent areas of abnormal fundus autofluorescence extending well beyond the discrete subfoveal vitelliform lesions; serial bilateral 1.25-mg intravitreal bevacizumab injections performed under anesthesia, visual acuity returned to 20/20 left eye and was maintained at 27 months of follow-up; functional improvement in the left eye was associated with a significant reduction in retinal exudative changes and improvement in retinal microanatomy; fluid pockets in the right eye improved but persisted with mild intraretinal cystic edema. In the left eye, the clinical appearance improved significantly compared with the acute choroidal neovascularization stage -o nly a thin fluid cleft persisted temporally to the vitelliform fibrovascular lesion, but the fovea was attached and no intraretinal edema could be seen; amblyopia treatment (patching the left eye for 2 h/d and spectacle correction: right eye,+1.25sph+0.75cylx90deg; left eye,+ 0.50sph+0.25cylx85deg); over time, visual acuity increased to 20/50 right eye"	"5y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000296488"	"04214"	"00403792"	"00000"	"Familial, autosomal recessive"	"15y"	"5y: bilateral visual acuity loss and bilateral inactive macular retinochoroidal scars, which were diagnosed as secondary to ocular toxoplasmosis; best corrected visual acuity right/left eye: 20/32 / 20/63 (toxoplasma serology was normal); follow up every 6 months for 10 years - stable visual acuity; revisited at 15y due to spots in visual field and fluctuation in her ability to see; VA remained unchanged, but fundus examination revealed multiple yellowish-white, partially confluent, subretinal lesions at the posterior pole, around the optic nerve and the vascular arcades, and bilateral macular scars, full-field electroretinogram blue light responses (scotopic b-wave responses), which provide a measure of rod function: normal; combined total rod and cone responses to single-flash white light (full-field ERG combined maximal scotopic a- and b-wave responses): delayed implicit times; cone function (30 Hz flicker ERG) which demonstrated delayed implicit times; Arden ratios of the electrooculography right/left eye: 1.3 / 1.2; multifocal ERG amplitudes: reduced, both in the fovea and in the periphery of the macula in the proband; implicit times delayed; 19y: VA deterioration to 20/100 in the right eye and 20/200 in the left eye, no funduscopic, ICG, FA, or OCT changes were observed, but full-field and multifocal ERG showed a considerable reduction in all amplitudes; optical coherence tomography: subretinal fluid between the retinal pigment epithelium and the neurosensory retina, causing neurosensory macular detachment and cystoid intraretinal fluid in the right eye; left eye: hyperreflective mass due to fibroglial tissue at the RPE level in the fovea, with considerable attenuation of the overlying neurosensory retina, and less intraretinal and subretinal fluid; after 4 weeks rest from reading and intensive schoolwork, she reported better vision; OCT: reduction in central macular thickness from 469 um to 372 um was right eye, 284 um to 239 um left eye"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000296489"	"04214"	"00403793"	"00000"	"Familial, autosomal recessive"	"42y"	"all tests normal, electroretinogram combined total rod and cone responses to single-flash white light showed delayed implicit times in the a- and b-wave: delayed; Arden ratios of the electrooculography right/left eye: 1.3 / 1.6"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000296490"	"04214"	"00403794"	"00000"	"Familial, autosomal recessive"	"14y"	"all tests normal, electroretinogram combined total rod and cone responses to single-flash white light showed delayed implicit times in the a- and b-wave: not performed; Arden ratios of the electrooculography right/left eye: 1.5/1.3"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000296493"	"04214"	"00403802"	"00000"	"Familial, autosomal recessive"	"9y"	"best corrected visual acuity right/left eye: 0.09 logMAR (20/25) / 0.60 logMAR (20/80), hypermetropia (+4 dpt) both eyes; anterior segment: normal, intraocular pressure: 12 mm Hg both eyes; funduscopy: bilateral yellowish lesions scattered throughout the fundus, with multiple and partially confluent yellowish white deposits at the posterior pole; macula of the right eye (left eye similar) swollen, inferotemporal part of the fovea an area suggestive of subretinal fibrosis was present; left eye round yellowish lesion below the macula; fundus autofluorescence: multiple spots of hyperautofluorescence corresponding to the yellowish lesions noted on ophthalmoscopy; hypoautofluorescent area suggestive of subretinal fibrosis; fluorescein angiography: early widespread patchy hyperfluorescent areas due to retinal pigment epithelium atrophy and retinal leakage, more pronounced in the right eye than left eye, with evidence of subtle fluorescein accumulation within lesions in the late phase; indocyanine green angiography: revealed hyperfluorescent spots right eye 1 left eye corresponding to the areas of increased leakage through the RPE, evident hypofluorescent spots in the right eye corresponding to the retinal scar temporal to the macula; in the left eye, hyperfluorescent spots corresponding to the hyperfluorescent deposit below the fovea and near the superior retinal vascular arcade; optical coherence tomography: foveal neurosensory retinal detachment; dome-shaped elevated subretinal deposits in this area, sometimes expanding into the outer plexiform layer left eye / right eye (corresponding to the yellow lesion located below the fovea centralis in the left eye); photoreceptor outer segments were thickened and elongated in both eyes; small hyporeflective areas within the inner nuclear layer due to intraregional edema could be related to thickening of Muller cells (the thin septa separating these pseudocystic areas); scattered lesions outside the macula appeared on OCT scans either as small hyperreflective lesions between RPE and photoreceptors, or as a more pronounced thickening of the RPE/photoreceptor complex associated with a focal disruption of the layer corresponding to the inner segment/outer segment interface; full field electroretinography: normal; pattern ERG and 30-Hz flicker ERG: mildly reduced and delayed  Arden ratios of the electrooculography  both eyes: 1.25 with a dark trough after 9 min (amplitude 440 V), and a light peak 9 min from the start of the light phase (amplitude 550 V)).; multifocal ERG: reduced and delayed amplitudes within the central 25deg in both eyes, corresponding to the central lesion right eye: 1st ring 52.8 nV/degree2, 2nd ring 38.5 nV/degree2, 3rd ring 21.8 nV/degree2, 4th ring 14.7 nV/degree2, 5th ring 13.5 nV/degree2; left eye: 1st ring 40.1 nV/degree2, 2nd ring 17.1 nV/degree2, 3rd ring 15.1 nV/degree2, 4th ring 11.2 nV/degree2, 5th ring 8.1 nV/ degree2 (normal range 100–120 nV/degree2); frequency doubling technology visual field: several small areas of reduced sensitivity in the centr area corresponding to areas of retina edema and altered RPE"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000296494"	"04214"	"00403810"	"00000"	"Familial, autosomal recessive"	"9y"	"foveal changes found during routine eye examination, visual acuity: 1.0, fundus: signs compatible with subclinical, early (previtelliform) stages of Best disease, including yellow foveal spots that are more readily seen on infrared imaging and show very minimal hyperautofluorescencel; horizontal spectral  optical coherence tomography: normal, full-field electroretinography: normal light-adapted cone electroretinography responses and supernormal dark-adapted rod and mixed cone-rod electroretinography amplitudes with normal implicit times; electrooculography: Arden ratio severely reduced, with practically no light rise; panel D-15 color vision: normal"	""	""	""	""	""	""	""	""	"autosomal recessive Best disease"	""	""
"0000296495"	"04214"	"00403811"	"00000"	"Familial, autosomal recessive"	"2y6m"	"visual acuity: 0.8 in each eye; maculopathy clearly evident, foveal changes more prominent than in older sister; spectral optical coherence tomography: significant subfoveal deposits located between the retinal pigment epithelium and Bruchs membrane; electroretinography under anesthesia (using a short protocol, without full dark adaptation): normal; electrooculography:  not performed (young age)"	""	""	""	""	""	""	""	""	"autosomal recessive Best disease"	""	""
"0000296498"	"04214"	"00403818"	"00000"	"Familial, autosomal dominant"	"68y"	"measurements right, left eye: visual acuity: 20/200, 20/200, refraction spherical/cylinder: +3.25/-1x90deg, +2.50/-1x80deg, anterior chamber depth (mm): 3.3, 3.2, axial length (mm): 22.6, 22.8, Arden ratios electrooculography: 1.4, 1.3, intraocular pressure (mmHg): 20, 18"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296499"	"04214"	"00403819"	"00000"	"Familial, autosomal dominant"	"42y"	"measurements right, left eye: visual acuity: 20/100, 20/100, refraction spherical/cylinder: 1.50, +2.25/-1x120deg, anterior chamber depth (mm): 3, 3, axial length (mm): 22.5, 22.6, Arden ratios electrooculography: 1.3, 1.4, intraocular pressure (mmHg): 15, 15"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296500"	"04214"	"00403820"	"00000"	"Familial, autosomal dominant"	"35y"	"measurements right, left eye: visual acuity: 20/80, 20/40, refraction spherical/cylinder: +2, +3, anterior chamber depth (mm): 2.9, 3, axial length (mm): 20.2, 20 (microphthalmos), Arden ratios electrooculography: 1.1, 1.3, intraocular pressure (mmHg): 14, 17"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296501"	"04214"	"00403821"	"00000"	"Familial, autosomal dominant"	"10y"	"measurements right, left eye: visual acuity: 20/120, 20/50, refraction spherical/cylinder: +9, +8, anterior chamber depth (mm): 3.5, 3.5, axial length (mm): 19.7, 20 (microphthalmos), Arden ratios electrooculography: 1.3, 1.1, intraocular pressure (mmHg): 22, 20 (at risk of angle-closure glaucoma)"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296504"	"04214"	"00403823"	"00000"	"Familial, autosomal dominant"	""	"visual acuity: 0.8-0.8 (Pigassou), funduscopy: right eye: pseudohypopion macular lesion, fluorescein angiography: right eye: macular hypo-fluorescent lesions due to deposits of vitelliform material and hyper- fluorescent lesions due to atrophic lesions of the retinal pigment epithelium; left eye: hyper-fluorescent lesion due to its retractile-atrophic stage. hyper-fluorescent lesions in the periphery of both eyes, electroretinograms: normal, electrooculography Arden ratios: reduced right eye: 1.00, left eye: 1.12"	"4y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296505"	"04214"	"00403824"	"00000"	"Familial, autosomal dominant"	""	"visual acuity: 0.6-0.6 (Snellen), funduscopy: left eye: retractile-atrophic lesion, multifocal subretinal deposits of vitelliform material and diffuse alterations of rpe in posterior pole and peripheral retina in both eyes, fluorescein angiography: hyper-fluorescent perimacular lesions, multifocal peripheral hypofluorescent disc-like lesions, electroretinograms: reduced (a and b waves amplitudes), electrooculography Arden ratios: reduced right eye:1.03, left eye:1.12"	"9y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296506"	"04214"	"00403825"	"00000"	"Familial, autosomal dominant"	""	"visual acuity: 0.7-0.7 (Snellen), funduscopy: perimacular scars, multifocal vitelliform discs in peripheral retina, fluorescein angiography: not examined, electroretinograms: not examined, electrooculography Arden ratios: not possible"	"6y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296644"	"04214"	"00404051"	"00000"	"Familial, autosomal recessive"	"28y"	"atypical Best disease with a bifocal lesion; macular cystoid lesion with discrete yellowish deposits in its periphery, connected with a temporal paramacular area with less elevation; ptical coherent tomography: large central cystoid space and delamination of the retinal layers"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000296645"	"04214"	"00404052"	"00000"	"Familial, autosomal recessive"	"44y"	"funduscopy: vitelliform macular lesion with fibrosis and multiple discrete vitelliform deposits in the perifovea; optical coherent tomography: minimal cleft at the retinal pigment epithelium- photoreceptor interface (no cystoid space)."	""	"36y"	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000296646"	"04214"	"00404053"	"00000"	"Familial, autosomal recessive"	"14y"	"full field electroretinography: normal, fundus: circular retinal pigment epithelium disruption with fibrosis and yellowish deposits in the macula; despite the obvious maculopathy, color vision as measured with the D15 test: normal; best corrected visual acuity right/left eye: 20/200 / 20/20; electro-oculogram Arden ratio right/left eye: 1.25 / 1.44"	""	"11y"	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000296647"	"04214"	"00404054"	"00000"	"Familial, autosomal recessive"	"8y"	"best corrected visual acuity: 20/20 both eyes; full field electroretinography: normal, electro-oculogram Arden ratio right/left eye: 1.25 / 1.44"	""	"6y"	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000296648"	"04214"	"00404055"	"00000"	"Familial, autosomal recessive"	"41y"	"mild maculopathy; electro-oculogram Arden ratio right/left eye: 1.96/2.15"	""	"40y"	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000296649"	"04214"	"00404056"	"00000"	"Familial, autosomal recessive"	"38y"	"pigmentary maculopathy in the left eye; electro-oculogram Arden ratio right/left eye: 1.95/1.99"	""	"37y"	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000296650"	"04214"	"00404057"	"00000"	"Familial, autosomal recessive"	"14y"	"asymptomatic"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000296660"	"04214"	"00404068"	"00000"	"Familial, autosomal recessive"	""	"presenting visual acuity logMAR (age, y): 1.10 (2),  0.10, latest visual acuity logMAR (age, y): 1.18 (7.5), 0.18, refraction: +8.00 DS, +7.00/-1.00, 20, electrooculogram: undetectable, pattern electroretinogram right/left eye: normal, subnormal  (7.5) / normal, full-field electroretinogram: normal"	"2y"	""	"right convergent strabismus"	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000296661"	"04214"	"00404069"	"00000"	"Familial, autosomal recessive"	""	"presenting visual acuity logMAR (age, y): 0.18 (6),  0.48, latest visual acuity logMAR (age, y): 0.00 (19), 0.30, refraction: +2.50/-0.75, 170, +2.50/-0.75, 170, electrooculogram: undetectable, pattern electroretinogram right/left eye: normal (9.5), subnormal (17.5) / normal, subnormal , full-field electroretinogram: normal (9.5), subnormal (17.5)b, normal/"	"6y"	""	"reduced central vision"	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000296662"	"04214"	"00404070"	"00000"	"Familial, autosomal recessive"	""	"presenting visual acuity logMAR (age, y): 0.40 (2),  0.00, latest visual acuity logMAR (age, y): 0.40 (12.5), 0, refraction: +7.00/-0.25, 90, +5.00/-0.50, 90, electrooculogram: undetectable, pattern electroretinogram right/left eye: subnormal normal (12.5) / normal, full-field electroretinogram: subnormal normal (12.5)/ normal"	"2y"	""	"right convergent strabismus"	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000296663"	"04214"	"00404071"	"00000"	"Familial, autosomal recessive"	""	"presenting visual acuity logMAR (age, y): 0.12 (2),  0.12, latest visual acuity logMAR (age, y): 0.12 (6), 0.08, refraction: +5.25/-0.75, 10, +4.25/-0.75, 170, electrooculogram: not performed, pattern electroretinogram right/left eye: normal (3.5) / normal, full-field electroretinogram: normal (3.5)/normal"	"2y"	""	"leukokoria"	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000296664"	"04214"	"00404072"	"00000"	"Familial, autosomal recessive"	""	"presenting visual acuity logMAR (age, y): 0.00 (10),  1.00, latest visual acuity logMAR (age, y): 0.78 (19), 0.7, refraction: +0.25/-0.25, 110, +1.25/-0.50, 5, electrooculogram: undetectable, pattern electroretinogram right/left eye: subnormal (19.5) / subnormal, full-field electroretinogram: subnormal (19.5) subnormal"	"10y"	""	"headache, no visual loss"	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000296665"	"04214"	"00404073"	"00000"	"Familial, autosomal recessive"	""	"presenting visual acuity logMAR (age, y): 0.18 (3),  -0.08, latest visual acuity logMAR (age, y): 0.18 (13), -0.08, refraction: +0.50 DS., +0.50/-0.50, 170, electrooculogram: undetectable, pattern electroretinogram right/left eye: normal (13) / normal, full-field electroretinogram: normal (13)"	"3y"	""	"asymptomatic"	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000296679"	"04214"	"00404091"	"00000"	"Familial, autosomal dominant"	"42y"	"results right, left eye: best corrected visual acuity: 6/18, CF, refraction: +3.50, +3.50; intraocular pressure: 38, 24, anterior chamber depth: 2.22.06, axial length: 20.7, 21.63, cup-disc ratio: 0.5, 0.3, fundus: vitelliform lesion, subretinal fluid; electrooculogram Arden ratio: 110%"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296680"	"04214"	"00404092"	"00000"	"Familial, autosomal dominant"	""	"results right, left eye: best corrected visual acuity: 6/60, 6/9, refraction: +4.00, +4.00; intraocular pressure: 18, 14, anterior chamber depth: 2.522.43, axial length: 20.46, 20.84, cup-disc ratio: 0.3, 0.3, fundus: subretinal fluid, normal; electrooculogram Arden ratio: 160%, 170%"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296681"	"04214"	"00404093"	"00000"	"Familial, autosomal dominant"	""	"results right, left eye: best corrected visual acuity: 6/36, 6/36, refraction: +0.75, +0.75; intraocular pressure: 19, 20, anterior chamber depth: 2.562.64, axial length: 22.54, 22.6, cup-disc ratio: 0.3, 0.3, fundus: vitelliform lesion, subretinal fluid;  electrooculogram Arden ratio: 110%"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296682"	"04214"	"00404094"	"00000"	"Familial, autosomal dominant"	"53y"	"results right, left eye: best corrected visual acuity: 6/12, 6/12, refraction: +3.00, +2.00; intraocular pressure: 15, 14, anterior chamber depth: 2.832.85, axial length: 21.25, 21.42, cup-disc ratio: 0.2, 0.3, fundus: vitelliform lesion, subretinal fluid; electrooculogram Arden ratio: 170%, 180%"	""	"40y"	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296714"	"04214"	"00404125"	"00000"	"Familial, autosomal recessive"	""	"best corrected visual acuity right, left eye: 20/32, 20/50; fundus: vitelliform disc in the vitelliruptive stage in the macular area in both eye; left eye: two extrafoveal additional vitelliform discs in the temporal area at the posterior pole; . electroculogram Arden ratio: 1.00, 1.12; photopic electroretinographic response was within normal limits, scotopic showed a reduced amplitude (about 25% compared with the average values of the control group), 2008, patient developed choroidal neovascularization with macular hemorrhage in left eye and received two photodynamic therapy treatments.; last examination (July 2010) BCVA: 20/50, 20/100; right eye fluorescein angiography showed a round hypofluorescent area due to the vitelliform disc, with irregular areas of hyperfluorescence related to localized retinal pigment epithelium atrophy, without dye leakage; in left eye, hyperfluorescent abnormalities were detected in the macular area, in association with staining of the fibrotic areas, without any sign of dye leakage; optical coherence tomography: scans passing through the macula both eyes: optically empty lesion with clumping of hyperreflective material on the posterior retinal surface and some irregular thickening of the RPE layer"	"6y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000296715"	"04214"	"00404126"	"00000"	"Familial, autosomal recessive"	""	"best corrected visual acuity right, left eye: 20/20, 20/25; fundus: normal right eye, left eye vitelliform disc at the posterior pole; electroculogram Arden ratio: 1.07, 0.89; electroretinographic response amplitude was slightly reduced for all the components; optical coherence tomography: normal macular profile in right eye and an accumulation of hyperreflective material between the retinal pigment epithelium and the neuroretina in left eye"	"6y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000296716"	"04214"	"00404127"	"00000"	"Familial, autosomal recessive"	""	"best corrected visual acuity: 20/40; fundoscopy: vitelliform disc in the vitelliruptive stage at the posterior pole with contiguous retinal pigment epithelium dystrophy below the macula in both eyes; optical coherence tomography: bilateral macular optically empty zone containing partially reabsorbed hyperreflective material (Figure 4); electroretinography: normal; electroculogram Arden ratio right, left eye: 1.20, 1.54; clinical picture remained unchanged for 6 years of follow-up"	"15y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000296717"	"04214"	"00404128"	"00000"	"Familial, autosomal recessive"	""	"bilateral visual reduction, best corrected visual acuity: 20/32 in both eyes; fundus examination showed a bilateral vitelliform disc in the macular area; electroretinogram: normal; electroculogram Arden ratio: 1.65 both eyes; optical coherence tomography: bilateral hyperreflective dome-shaped lesion located between the retinal pigment epithelium and the neuroretina; the clinical picture was stable for the next two years"	"13y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000296718"	"04214"	"00404129"	"00000"	"Familial, autosomal recessive"	""	"reduced vision in both eyes that started when she was about 6 years old. At examination, her best corrected visual acuity right, left eye: 20/25, 20/50, fundoscopy: diffused retinal pigment epithelium dystrophy with yellowish deposits at the posterior pole and macular edema both eyes, in medical records no vitelliform disc detected during the course of the disease; optical coherence tomography: bilateral macular cystoid spaces; scotopic electroretinogram: amplitude reduced by about 50% of the average value of the control group; photopic electroretinogram amplitude: slightly reduced (about 25%); electroculogram Arden test right, left eye: 1.20, 1.50; fluorescein angiography showed macular hyperfluorescence and small hyperfluorescent spots at mid-periphery, with a higher concentration around the optic disc; in 2008, the patient had received photodynamic therapy for suspected choroidal neovascularization in right eye"	""	"16y"	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000296858"	"04214"	"00404271"	"00000"	"Familial, autosomal dominant"	""	"no visual symptoms; early vitelliform stage of Best disease - small yellowish spot in the macula in the right eye; fundus left eye: normal; spectral domain optical coherence tomography of the right macula: hypodense space between the retinal pigment epithelium and the neuroretinal layer; electrooculogram Arden ratio mildly reduced: 1.36 right and 1.3 left eye"	"64y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296859"	"04214"	"00404272"	"00000"	"Familial, autosomal dominant"	"17y"	"best corrected visual acuity right, left eye: 20/20, 20/100; lesions  right, left eye: pseudohypopyon, fibrotic nodule"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296860"	"04214"	"00404273"	"00000"	"Familial, autosomal dominant"	"22y"	"best corrected visual acuity right, left eye: 20/50, 20/20; lesions  right, left eye: fibrotic nodule, fibrotic nodule"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296861"	"04214"	"00404274"	"00000"	"Familial, autosomal dominant"	"22y"	"best corrected visual acuity right, left eye: 20/20, 20/100; lesions  right, left eye: fibrotic nodule, fibrotic nodule"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296862"	"04214"	"00404275"	"00000"	"Familial, autosomal dominant"	"15y"	"best corrected visual acuity right, left eye: 20/40, 20/30; lesions  right, left eye: vitelliform, fibrotic nodule"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296863"	"04214"	"00404276"	"00000"	"Familial, autosomal dominant"	"84y"	"best corrected visual acuity right, left eye: 20/40, 20/60; lesions  right, left eye: multifocal and vitelliform, multifocal and vitelliform"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296864"	"04214"	"00404277"	"00000"	"Familial, autosomal dominant"	"54y"	"best corrected visual acuity right, left eye: 20/15, 20/25; lesions  right, left eye: multifocal, vitelliform"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296865"	"04214"	"00404278"	"00000"	"Familial, autosomal dominant"	"67y"	"best corrected visual acuity right, left eye: 20/125, 20/125; lesions  right, left eye: retinal pigment epithelial detachments and subretinal fluid, retinal pigment epithelial detachments and subretinal fluid"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296866"	"04214"	"00404279"	"00000"	"Familial, autosomal dominant"	"13y"	"best corrected visual acuity right, left eye: 20/70, 20/25; lesions  right, left eye: fibrotic nodule, fibrotic nodule"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296867"	"04214"	"00404280"	"00000"	"Familial, autosomal dominant"	"68y"	"best corrected visual acuity right, left eye: 20/30, 20/20; lesions  right, left eye: vitelliform, no lesion"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296868"	"04214"	"00404281"	"00000"	"Familial, autosomal dominant"	"69y"	"best corrected visual acuity right, left eye: 20/30, 20/20; lesions  right, left eye: retinal pigment epithelial detachments and subretinal fluid, retinal pigment epithelial detachments and subretinal fluid"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296869"	"04214"	"00404282"	"00000"	"Familial, autosomal dominant"	"54y"	"best corrected visual acuity right, left eye: 20/125, 20/40; lesions  right, left eye: atrophic, vitelliform"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296870"	"04214"	"00404283"	"00000"	"Familial, autosomal dominant"	"58y"	"best corrected visual acuity right, left eye: 20/50, 20/70; lesions  right, left eye: subretinal fibrosis and subretinal fluid, atrophic"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296871"	"04214"	"00404284"	"00000"	"Familial, autosomal dominant"	"30y"	"best corrected visual acuity right, left eye: 20/63, 20/40; lesions  right, left eye: fibrotic nodule, pseudohypopyon"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296872"	"04214"	"00404285"	"00000"	"Familial, autosomal dominant"	"15y"	"best corrected visual acuity right, left eye: 20/20, 20/20; lesions  right, left eye: pseudohypopyon, pseudohypopyon"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296873"	"04214"	"00404286"	"00000"	"Familial, autosomal dominant"	"42y"	"best corrected visual acuity right, left eye: 20/25+3, 20/125; lesions  right, left eye: vitelliform, atrophy and subretinal fluid"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296876"	"04214"	"00404288"	"00000"	"Familial, autosomal recessive"	"42y"	"best corrected visual acuity right, left eye: OD 20/100, OS 20/200, fundus: widespread  retinal pigment epithelium irregularity affecting posterior pole and toward equator, small pale subretinal deposits in the macular area, optical coherence tomography: subretinal and intraretinal fluid, full-field electroretinographydelayed and reduced rod and cone erg, electrooculogram right, left eye: reduced/reduced"	"37y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000296877"	"04214"	"00404289"	"00000"	"Familial, autosomal recessive"	"17y"	"best corrected visual acuity right, left eye: OD 20/100, OS 20/40, fundus: widespread  retinal pigment epithelium disturbances, small pale subretinal deposits in the macula. large, multiple yellowish subretinal deposits affecting the posterior pole, optical coherence tomography: subretinal and intraretinal fluid, subretinal deposits, full-field electroretinographyreduced amplitudes of both cones and rods, electrooculogram right, left eye: normal/normal"	"8y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000296878"	"04214"	"00404290"	"00000"	"Familial, autosomal recessive"	"12y"	"best corrected visual acuity right, left eye: 20/400, 20/30; macular lesions and smaller scattered vitelliform lesions in the periphery of the right eye, intraretinal cysts, and elevation and separation of the neurosensory retina from the retinal pigment epithelium in the left eye"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000296879"	"04214"	"00404291"	"00000"	"Familial, autosomal recessive"	"9y"	"best corrected visual acuity right, left eye: 20/30, 20/40; scattered vitelliform lesions, subretinal deposits, and subretinal fluid in the macula of the right eye"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000296880"	"04214"	"00404292"	"00000"	"Familial, autosomal recessive"	"5y"	"best corrected visual acuity right, left eye: 20/40, 20/30; bilateral yellowish, subretinal macular lesions with the lesion in the right eye extending outside the macular area down to the inferior arcade, small deposits noted in the left macula and serous retinal fluid in both eyes"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000296881"	"04214"	"00404293"	"00000"	"Familial, autosomal recessive"	"10y"	"unilateral vitelliform phenotype; best-corrected visual acuity right, left eye: 20/25, 20/32; anterior segment normal; biomicroscopic funduscopy: normal findings in the right eye and a round, yellow macular lesion in the left eye; fundus autofluorescence: round hyper-autofluorescent macular lesion in the left eye, normal right eye; spectral-domain optical coherence tomography: subretinal accumulation of welldefined hyper-reflective material in the left macula, normal right eye; electro-oculogram: subnormal arden ratio in both eyes (1.07/0.85); full-field electroretinogram (ERG): normal responses in rod and rod-cone b-wave in both eyes; follow-up 2years later: unchanged except for full-field ERG which now revealed delayed rod and rod-cone b-wave responses in both eyes; Multifocal ERG showed reduced responses within the central 10deg in both eyes; microperimetry: fixation stable and predominantly central in both eyes; the mean retinal sensitivity was 20 dB (central 10deg) in the right and 18 dB (central 10deg) in the left eye"	"8y"	""	"blurred vision in left eye"	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000296882"	"04214"	"00404294"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296883"	"04214"	"00404295"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296884"	"04214"	"00404296"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296885"	"04214"	"00404297"	"00000"	"Familial, autosomal dominant"	"37y"	"first documented best corrected visual acuity right/left eye: 0.8/0.4, recent best corrected visual acuity right/left eye: 0.9/0.8, lesion size right/left eye (um): 1360/1783, electroculogram Arden ratio: not analyzed"	"37y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296886"	"04214"	"00404298"	"00000"	"Familial, autosomal dominant"	"10y"	"first documented best corrected visual acuity right/left eye: 10y, 0.2/0.2, recent best corrected visual acuity right/left eye: 0.2/0.2, lesion size right/left eye (um): 1963/1165, electroculogram Arden ratio: not analyzed"	"10y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296887"	"04214"	"00404299"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296888"	"04214"	"00404300"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296889"	"04214"	"00404301"	"00000"	"Familial, autosomal dominant"	"35y"	"first documented best corrected visual acuity right/left eye: 16y, 0.1/0.4, recent best corrected visual acuity right/left eye: N/A, lesion size right/left eye (um): N/A, electroculogram Arden ratio: 2.8/2.8"	"16y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296890"	"04214"	"00404302"	"00000"	"Familial, autosomal dominant"	"35y"	"first documented best corrected visual acuity right/left eye: 23y, 0.3/0.4, recent best corrected visual acuity right/left eye: N/A, lesion size right/left eye (um): N/A, electroculogram Arden ratio: 1.7/1.4"	"23y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296891"	"04214"	"00404303"	"00000"	"Familial, autosomal dominant"	"66y"	"first documented best corrected visual acuity right/left eye: 9y, 0.08/0.4, recent best corrected visual acuity right/left eye: 0.1/0.05, lesion size right/left eye (um): 2462/3496, electroculogram Arden ratio: 1.1/1.1"	"9y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296892"	"04214"	"00404304"	"00000"	"Familial, autosomal dominant"	"54y"	"first documented best corrected visual acuity right/left eye: 54y, 0.9/0.2, recent best corrected visual acuity right/left eye: 0.9/0.2, lesion size right/left eye (um): 2718/4597, electroculogram Arden ratio: 1.1/1.3"	"54y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296893"	"04214"	"00404305"	"00000"	"Familial, autosomal dominant"	"25y"	"first documented best corrected visual acuity right/left eye: 10y, 0.2/0.2, recent best corrected visual acuity right/left eye: 0.6/0.7, lesion size right/left eye (um): 2285/1637, electroculogram Arden ratio: not analyzed"	"10y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296894"	"04214"	"00404306"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296895"	"04214"	"00404307"	"00000"	"Familial, autosomal dominant"	"61y"	"first documented best corrected visual acuity right/left eye: 45y, 0.4/0.4, recent best corrected visual acuity right/left eye: 0.3/0.4, lesion size right/left eye (um): 3251/2031, electroculogram Arden ratio: 1.0/1.0"	"45y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296896"	"04214"	"00404308"	"00000"	"Familial, autosomal dominant"	"50y"	"first documented best corrected visual acuity right/left eye: 36y, 1.0/0.8, recent best corrected visual acuity right/left eye: 0.05/0.7, lesion size right/left eye (um): 2348/1261, electroculogram Arden ratio: not analyzed"	"36y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296897"	"04214"	"00404309"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296898"	"04214"	"00404310"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296899"	"04214"	"00404311"	"00000"	"Familial, autosomal dominant"	"41y"	"first documented best corrected visual acuity right/left eye: 16y, 1.0/0.5, recent best corrected visual acuity right/left eye: 0.8/0.8, lesion size right/left eye (um): 1403/2782, electroculogram Arden ratio: 1.5/1.6"	"16y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296921"	"04214"	"00404333"	"00000"	"Familial, autosomal dominant"	"60y"	"best corrected visual acuity right, left eye: 0.5, 1.2, fundus right, left eye: atrophic stage, vitelliruptive stage, electro-oculogram Arden ratio right, left eye: decreased, electroretinogram: not done"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296922"	"04214"	"00404334"	"00000"	"Familial, autosomal dominant"	"59y"	"best corrected visual acuity right, left eye: 1.2, 1.2, fundus right, left eye: normal, normal, electro-oculogram Arden ratio right, left eye: decreased, electroretinogram: not done"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296923"	"04214"	"00404335"	"00000"	"Familial, autosomal dominant"	"37y"	"best corrected visual acuity right, left eye: 1.0, 1.2, fundus right, left eye: pseudohypopyon stage, vitelliruptive stage, electro-oculogram Arden ratio right, left eye: 1.16, not done, electroretinogram: normal"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296924"	"04214"	"00404336"	"00000"	"Familial, autosomal dominant"	"36y"	"best corrected visual acuity right, left eye: 0.8, 1,5, fundus right, left eye: vitelliruptive stage, previtelliform stage, electro-oculogram Arden ratio right, left eye: decreased, electroretinogram: normal"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296925"	"04214"	"00404337"	"00000"	"Familial, autosomal dominant"	"26y"	"best corrected visual acuity right, left eye: 0.2, 1.0, fundus right, left eye: vitelliruptive stage, pseudohypopyon stage, electro-oculogram Arden ratio right, left eye: 1.08, not done, electroretinogram: normal"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296926"	"04214"	"00404338"	"00000"	"Familial, autosomal dominant"	"71y"	"best corrected visual acuity right, left eye: 0.06, 0.4, fundus right, left eye: fibrotic (or cicatricial) stage, vitelliruptive stage; right eye - choroidal neovasucularisation, electro-oculogram Arden ratio right, left eye: 1.15, 1.30, electroretinogram: normal"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296927"	"04214"	"00404339"	"00000"	"Familial, autosomal dominant"	"43y"	"best corrected visual acuity right, left eye: 0.5, 1.2, fundus right, left eye: atrophic stage, vitelliform stage, electro-oculogram Arden ratio right, left eye: 1.11, 1.04, electroretinogram: normal"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296928"	"04214"	"00404340"	"00000"	"Familial, autosomal dominant"	"76y"	"best corrected visual acuity right, left eye: 0.3, 0.04, fundus right, left eye: atrophic stage, atrophic stage; left eye - optic atrophy, electro-oculogram Arden ratio right, left eye: 1.24, 1.71, electroretinogram: normal"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296929"	"04214"	"00404341"	"00000"	"Familial, autosomal dominant"	"47y"	"best corrected visual acuity right, left eye: 1.0, 1.2, fundus right, left eye: pseudohypopyon stage, previtelliform stage, electro-oculogram Arden ratio right, left eye: 1.09, 1.10, electroretinogram: normal"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296930"	"04214"	"00404342"	"00000"	"Familial, autosomal dominant"	"66y"	"best corrected visual acuity right, left eye: 0.5, 0.5, fundus right, left eye: vitelliform stage, vitelliform stage, electro-oculogram Arden ratio right, left eye: 1.31, 1.27, electroretinogram: normal"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296931"	"04214"	"00404343"	"00000"	"Familial, autosomal dominant"	"56y"	"best corrected visual acuity right, left eye: 1.2, 1.0, fundus right, left eye: vitelliruptive stage, vitelliruptive stage; both eyes - diabetic retinopathy, electro-oculogram Arden ratio right, left eye: 1.76, 1.70, electroretinogram: decreased"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296932"	"04214"	"00404344"	"00000"	"Familial, autosomal dominant"	"38y"	"best corrected visual acuity right, left eye: 0.6, 1.0, fundus right, left eye: vitelliruptive stage, vitelliruptive stage, electro-oculogram Arden ratio right, left eye: 1.31, 1.50, electroretinogram: normal"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296933"	"04214"	"00404345"	"00000"	"Familial, autosomal dominant"	"58y"	"best corrected visual acuity right, left eye: 1.0, 0.7, fundus right, left eye: normal, vitelliform stage, electro-oculogram Arden ratio right, left eye: 1.18, 1.12, electroretinogram: normal"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296934"	"04214"	"00404346"	"00000"	"Familial, autosomal dominant"	"74y"	"best corrected visual acuity right, left eye: 1.0, 0.9, fundus right, left eye: vitelliruptive stage, vitelliruptive stage, electro-oculogram Arden ratio right, left eye: 1.23, not done, electroretinogram: not done"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296935"	"04214"	"00404347"	"00000"	"Familial, autosomal dominant"	"73y"	"best corrected visual acuity right, left eye: 0.15, 1.2, fundus right, left eye: atrophic stage, vitelliform stage, electro-oculogram Arden ratio right, left eye: 1.38, 1.47, electroretinogram: not done"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296936"	"04214"	"00404348"	"00000"	"Familial, autosomal dominant"	"50y"	"best corrected visual acuity right, left eye: 0.6, 1.0, fundus right, left eye: previtelliform stage, vitelliform stage, electro-oculogram Arden ratio right, left eye: 1.11, 1.17, electroretinogram: normal"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296937"	"04214"	"00404349"	"00000"	"Familial, autosomal dominant"	"11y"	"best corrected visual acuity right, left eye: 1.5, 2.0, fundus right, left eye: normal, normal, electro-oculogram Arden ratio right, left eye: not done, electroretinogram: not done"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296938"	"04214"	"00404350"	"00000"	"Familial, autosomal dominant"	"85y"	"best corrected visual acuity right, left eye: 0.5, 0.5, fundus right, left eye: previtelliform stage, previtelliform stage; both eyes - cataract, electro-oculogram Arden ratio right, left eye: not done, electroretinogram: not done"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296939"	"04214"	"00404351"	"00000"	"Familial, autosomal dominant"	"60y"	"best corrected visual acuity right, left eye: 0.5, 0.4, fundus right, left eye: vitelliruptive stage, vitelliruptive stage/fibrotic (or cicatricial) stage; left eye - choroidal neovasucularisation, electro-oculogram Arden ratio right, left eye: not done, 1.20, electroretinogram: not done"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000296943"	"04214"	"00404354"	"00000"	"Familial, autosomal recessive"	"25y"	"measurements  right, left eye: visual acuity: 20/60, 20/40, refraction (spherical/cylindrical): +1.5/-0.75 x 120deg, -1.25/-2 x 94deg, anterior chamber depth: 2.8, 2.7, axial length: 22.3, 22.4, electro-oculogram Arden ratio: 1.3, 1.0, intraocular pressure (mmHg): 17, 19"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000296944"	"04214"	"00404355"	"00000"	"Familial, autosomal recessive"	"23y"	"measurements  right, left eye: visual acuity: 20/60, 20/80, refraction (spherical/cylindrical): -1.75/-1.75 x 94deg, -2.25/-0.75 x 129deg, anterior chamber depth: 3.6, 3.6, axial length: 23.8, 23.7, electro-oculogram Arden ratio: 1.1, 1.2, intraocular pressure (mmHg): 19, 20"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000296945"	"04214"	"00404356"	"00000"	"Familial, autosomal recessive"	"15y"	"measurements  right, left eye: visual acuity: 20/30, 20/40, refraction (spherical/cylindrical): +4.25/1 x 44deg, +3.75/0.5 x 162deg, anterior chamber depth: 3,1, 3.2, axial length: 22,1, 22.2, electro-oculogram Arden ratio: 1,3, 1,3, intraocular pressure (mmHg): 10, 12"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000296946"	"04214"	"00404357"	"00000"	"Familial, autosomal recessive"	"9y"	"measurements  right, left eye: visual acuity: 20/30, 20/25, refraction (spherical/cylindrical): +0.5/0.5 x 100deg, +1/0.5 x 60deg, anterior chamber depth: 3.2, 3.2, axial length: 22.6, 22.2, electro-oculogram Arden ratio: 1.0, 1.0, intraocular pressure (mmHg): 18, 18"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000297042"	"04214"	"00404450"	"00000"	"Familial, autosomal recessive"	"8y3m"	"age: 5y, best corrected visual acuity right/left eye: 0.32/0.3, full-field electroretinography amplitudes: scotopic and mixed: 50 %, b/a = 1,8, 30 Hz: 30%, photopic-b & a: 40 %; age: 6y, refraction: right eye +7.75/-0.5/113deg, left eye +8.25/-0.5/68deg, best corrected visual acuity right/left eye: 0.32/0.3, electro-oculogram: right eye 1,1, left eye 1,2; age: 7y6m, refraction: right eye: +7.5/-0.5 124deg, left eye: +8.0 -0.5 76deg, best corrected visual acuity right/left eye: 0.4/0.4, intraocular pressure: 16/15, full-field electroretinography amplitudes: scotopic not analysed; 30 Hz 25 %, photopic-b right eye 60 %, left eye 75 %; phot-a right eye 33% , left eye 70 %, multifocal ERG: right eye 28% (0,8) left eye 44% (0,6); age: 7y9m, refraction: right eye: +7.75/-1.0/120deg, left eye: +8.2/-0.5/83deg, best corrected visual acuity right/left eye: 0.5/0.16, intraocular pressure: 12/14; age: 8y, best corrected visual acuity right/left eye: 0.5/0.4; age: 8y3m, refraction: right eye: +7.25/-1.0/101deg, left eye: +7.25/-0.5/74deg, best corrected visual acuity right/left eye: 0.32/0.25, visual field: MP1: central -8 db, full-field electroretinography amplitudes: 30 Hz: right eye 15 %, photopic-b & a: 60 %left eye 40 %;, multifocal ERG: right eye 27% (0,6) left eye 36% (0,4)"	""	"5y"	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297043"	"04214"	"00404451"	"00000"	"Familial, autosomal recessive"	"17y"	"age: 13y, refraction: right eye: +4.5/-2.0/8deg, left eye: +3.5/-1.25/168deg, best corrected visual acuity right/left eye: 0.5/1.0, visual field: unchanged, full-field electroretinography amplitudes: scotopic and mixed: 70 % b/a = 1,4 30 Hz: right eye 25 %, left eye 80 % photopic-b & a: 75 % , multifocal ERG: both eyes: 34 % (0,5), electro-oculogram: both eyes: ~ 1; age: 14y, refraction: right eye: +4.25/-2.0/7deg, left eye: +3.5/-1.5/171deg, best corrected visual acuity right/left eye: 0.4/0.63, visual field: unchanged, full-field electroretinography amplitudes: not analysed; age: 15y, full-field electroretinography amplitudes: scotopic and mixed: 50 %() b/a = 1,8 30 Hz & photopic-b & a: 40 %, multifocal ERG: right eye 23% (0,5) left eye 17% (0,5) ; age: 17y, refraction: right eye: +4.75/-1.75/8deg, left eye: +3.75/-1.50/163deg, best corrected visual acuity right/left eye: 0.4/0.8, visual field: unchanged MP1 nasal unchanged paracentral: superior -6 db inferior: -18 db"	""	"13y"	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297044"	"04214"	"00404452"	"00000"	"Familial, autosomal dominant"	"42y"	"best corrected visual acuity right/left eye: 0.6 / 1, fundus right/left eye: normal / normal; amblyopia right eye, electroculogram Arden ratio right/left eye: 1.47 / 1.42"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297045"	"04214"	"00404453"	"00000"	"Familial, autosomal dominant"	"78y"	"best corrected visual acuity right/left eye: 0.5 / 1, fundus right/left eye: glaucomatous cupping / glaucomatous cupping; glaucoma both eyes, electroculogram Arden ratio right/left eye: NA / NA"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297046"	"04214"	"00404454"	"00000"	"Familial, autosomal dominant"	"68y"	"best corrected visual acuity right/left eye: 0.8 / 0.9, fundus right/left eye: atrophic stage / vitelliform lesion; multifocal presentation of the disease OS, electroculogram Arden ratio right/left eye: 1.34 / 1.15"	"35y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297047"	"04214"	"00404455"	"00000"	"Familial, autosomal dominant"	"60y"	"best corrected visual acuity right/left eye: 0.8 / 1, fundus right/left eye: vitelliform lesion / vitelliform lesion; multifocal presentation of the diseaseOU, electroculogram Arden ratio right/left eye: 1.45 / 1.4"	"30y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297048"	"04214"	"00404456"	"00000"	"Familial, autosomal dominant"	"63y"	"best corrected visual acuity right/left eye: 0.4 / 0.8, fundus right/left eye: vitelliruptive stage / pseudohypopyon stage; multifocal presentation of the diseaseRE, electroculogram Arden ratio right/left eye: 1.4 / 1.42"	"53y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297049"	"04214"	"00404457"	"00000"	"Familial, autosomal dominant"	"22y"	"best corrected visual acuity right/left eye: 0.3 / 1, fundus right/left eye: fibrotic stage / vitelliform lesion; previous choroidal neovascularization, electroculogram Arden ratio right/left eye: 1.4 / 1.4"	"14y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297050"	"04214"	"00404458"	"00000"	"Familial, autosomal dominant"	"18y"	"best corrected visual acuity right/left eye: 0.8 / 0.8, fundus right/left eye: vitelliruptive stage / vitelliruptive stage; previous choroidal neovascularization, electroculogram Arden ratio right/left eye: 1.35 / 1.25"	"8y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297051"	"04214"	"00404459"	"00000"	"Familial, autosomal dominant"	"15y"	"best corrected visual acuity right/left eye: 0.4 / 0.8, fundus right/left eye: fibrotic stage / fibrotic stage; previous choroidal neovascularization, electroculogram Arden ratio right/left eye: 1.15 / 1.22"	"5y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297052"	"04214"	"00404460"	"00000"	"Familial, autosomal dominant"	"45y"	"best corrected visual acuity right/left eye: 0.3 / 0.7, fundus right/left eye: fibrotic stage / vitelliruptive stage; previous choroidal neovascularization, electroculogram Arden ratio right/left eye: 1.14 / 1.02"	"33y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297053"	"04214"	"00404461"	"00000"	"Familial, autosomal dominant"	"16y"	"best corrected visual acuity right/left eye: 0.2 / 0.9, fundus right/left eye: fibrotic stage / pseudohypopyon stage; previous choroidal neovascularization, electroculogram Arden ratio right/left eye: 1.2 / 1.15"	"7y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297054"	"04214"	"00404462"	"00000"	"Familial, autosomal dominant"	"11y"	"best corrected visual acuity right/left eye: 0.8 / 1, fundus right/left eye: vitelliform lesion / pre-vitelliform lesion; unilateral, electroculogram Arden ratio right/left eye: 1.22 / 1.4"	"6y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297055"	"04214"	"00404463"	"00000"	"Familial, autosomal dominant"	"42y"	"best corrected visual acuity right/left eye: 1 / 1, fundus right/left eye: normal / normal, electroculogram Arden ratio right/left eye: 1.4 / 1.45"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297056"	"04214"	"00404464"	"00000"	"Familial, autosomal dominant"	"9y"	"best corrected visual acuity right/left eye: 1 / 1, fundus right/left eye: normal / normal, electroculogram Arden ratio right/left eye: NA / NA"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297057"	"04214"	"00404465"	"00000"	"Familial, autosomal dominant"	"14y"	"best corrected visual acuity right/left eye: 1 / 1, fundus right/left eye: normal / normal, electroculogram Arden ratio right/left eye: NA / NA"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297058"	"04214"	"00404466"	"00000"	"Familial, autosomal dominant"	"16y"	"best corrected visual acuity right/left eye: 0.7 / 0.9, fundus right/left eye: pseudohypopyon stage / pseudohypopyon stage, electroculogram Arden ratio right/left eye: 1.3 / 1.25"	"10y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297059"	"04214"	"00404467"	"00000"	"Familial, autosomal dominant"	"44y"	"best corrected visual acuity right/left eye: 0.9 / 1, fundus right/left eye: vitelliruptive stage / vitelliruptive stage, electroculogram Arden ratio right/left eye: 1.4 / 1.2"	"39y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297060"	"04214"	"00404468"	"00000"	"Familial, autosomal dominant"	"54y"	"best corrected visual acuity right/left eye: 1 / 1, fundus right/left eye: normal / normal, electroculogram Arden ratio right/left eye: 1.32 / 1.11"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297061"	"04214"	"00404469"	"00000"	"Familial, autosomal dominant"	"57y"	"best corrected visual acuity right/left eye: 0.4 / 0.3, fundus right/left eye: atrophic stage / atrophic stage, electroculogram Arden ratio right/left eye: 1.35 / 1.25"	"35y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297062"	"04214"	"00404470"	"00000"	"Familial, autosomal dominant"	"62y"	"best corrected visual acuity right/left eye: 0.2 / 0.2, fundus right/left eye: atrophic stage / atrophic stage, electroculogram Arden ratio right/left eye: 1.43 / 1.3"	"25y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297063"	"04214"	"00404471"	"00000"	"Familial, autosomal dominant"	"42y"	"best corrected visual acuity right/left eye: 1 / 1, fundus right/left eye: normal / normal, electroculogram Arden ratio right/left eye: NA / NA"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297064"	"04214"	"00404472"	"00000"	"Familial, autosomal dominant"	"46y"	"best corrected visual acuity right/left eye: 0.2 / 0.2, fundus right/left eye: atrophic stage / atrophic stage, electroculogram Arden ratio right/left eye: 1.15 / 1.2"	"10y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297065"	"04214"	"00404473"	"00000"	"Familial, autosomal dominant"	"60y"	"best corrected visual acuity right/left eye: 0.3 / 0.1, fundus right/left eye: fibrotic stage / fibrotic stage, electroculogram Arden ratio right/left eye: 1.3 / 1.45"	"29y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297066"	"04214"	"00404474"	"00000"	"Familial, autosomal dominant"	"27y"	"best corrected visual acuity right/left eye: 1 / 1, fundus right/left eye: vitelliform lesion / vitelliform lesion, electroculogram Arden ratio right/left eye: 1.28 / 1.33"	"8y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297067"	"04214"	"00404475"	"00000"	"Familial, autosomal dominant"	"25y"	"best corrected visual acuity right/left eye: 1 / 1, fundus right/left eye: vitelliform lesion / vitelliform lesion, electroculogram Arden ratio right/left eye: 1.45 / 1.32"	"7y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297068"	"04214"	"00404476"	"00000"	"Familial, autosomal dominant"	"34y"	"best corrected visual acuity right/left eye: 1 / 1, fundus right/left eye: normal / normal, electroculogram Arden ratio right/left eye: 1.55 / 1.48"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297069"	"04214"	"00404477"	"00000"	"Familial, autosomal dominant"	"27y"	"best corrected visual acuity right/left eye: 1 / 1, fundus right/left eye: normal / normal, electroculogram Arden ratio right/left eye: 1.5 / 1.55"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297070"	"04214"	"00404478"	"00000"	"Familial, autosomal dominant"	"22y"	"best corrected visual acuity right/left eye: 0.3 / 0.7, fundus right/left eye: fibrotic stage / fibrotic stage, electroculogram Arden ratio right/left eye: 1.25 / 1.3"	"2y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297071"	"04214"	"00404479"	"00000"	"Familial, autosomal dominant"	"46y"	"best corrected visual acuity right/left eye: 0.5 / 0.5, fundus right/left eye: vitelliruptive stage / vitelliruptive stage, electroculogram Arden ratio right/left eye: 1.48 / 1.35"	"6y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297072"	"04214"	"00404480"	"00000"	"Familial, autosomal dominant"	"52y"	"best corrected visual acuity right/left eye: 0.7 / 0.3, fundus right/left eye: fibrotic stage / fibrotic stage, electroculogram Arden ratio right/left eye: 1.23 / 1.45"	"10y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297073"	"04214"	"00404481"	"00000"	"Familial, autosomal dominant"	"82y"	"best corrected visual acuity right/left eye: 0.8 / 0.1, fundus right/left eye: atrophic stage / atrophic stage, electroculogram Arden ratio right/left eye: 1.25 / 1.15"	"50y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297074"	"04214"	"00404482"	"00000"	"Familial, autosomal dominant"	"45y"	"best corrected visual acuity right/left eye: 0.4 / 0.6, fundus right/left eye: pseudohypopyon stage / vitelliruptive stage, electroculogram Arden ratio right/left eye: 1.3 / 1.09"	"15y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297075"	"04214"	"00404483"	"00000"	"Familial, autosomal dominant"	"38y"	"best corrected visual acuity right/left eye: 0.3 / 0.5, fundus right/left eye: vitelliruptive stage / vitelliruptive stage, electroculogram Arden ratio right/left eye: 1.23 / 1.41"	"25y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297076"	"04214"	"00404484"	"00000"	"Familial, autosomal dominant"	"35y"	"best corrected visual acuity right/left eye: 1 / 0.9, fundus right/left eye: pseudohypopyon stage / vitelliruptive stage, electroculogram Arden ratio right/left eye: 1.4 / 1.45"	"25y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297077"	"04214"	"00404485"	"00000"	"Familial, autosomal dominant"	"47y"	"best corrected visual acuity right/left eye: 0.2 / 1, fundus right/left eye: atrophic stage / pseudohypopyon stage, electroculogram Arden ratio right/left eye: 1.49 / 1.32"	"35y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297078"	"04214"	"00404486"	"00000"	"Familial, autosomal dominant"	"48y"	"best corrected visual acuity right/left eye: 0.1 / 0.1, fundus right/left eye: vitelliruptive stage / vitelliruptive stage, electroculogram Arden ratio right/left eye: 1.18 / 1.22"	"35y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297079"	"04214"	"00404487"	"00000"	"Familial, autosomal dominant"	"62y"	"best corrected visual acuity right/left eye: 0.5 / 0.6, fundus right/left eye: vitelliruptive stage / pseudohypopyon stage, electroculogram Arden ratio right/left eye: 1.36 / 1.26"	"47y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297080"	"04214"	"00404488"	"00000"	"Familial, autosomal dominant"	"72y"	"best corrected visual acuity right/left eye: 0.2 / 0.5, fundus right/left eye: atrophic stage / vitelliform lesion, electroculogram Arden ratio right/left eye: 1.23 / 1.43"	"60y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297081"	"04214"	"00404489"	"00000"	"Familial, autosomal dominant"	"41y"	"best corrected visual acuity right/left eye: 0.6 / 0.9, fundus right/left eye: vitelliruptive stage / vitelliform lesion, electroculogram Arden ratio right/left eye: 1.45 / 1.48"	"37y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297082"	"04214"	"00404490"	"00000"	"Familial, autosomal dominant"	"32y"	"best corrected visual acuity right/left eye: 0.8 / 1, fundus right/left eye: atrophic stage / atrophic stage, electroculogram Arden ratio right/left eye: 1.34 / 1.42"	"25y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297083"	"04214"	"00404491"	"00000"	"Familial, autosomal recessive"	"10y"	"best-corrected visual acuity at presentation: 20/40 right, 20/60 left eye; fundus: bilateral macular retinoschisis and serous retinal detachments; optical coherence tomography: central macular thickness right/left eye: 381 um / 430 um; fluorescein angiography: multiple hyperfluorescent spots in the periphery with central leakage in both eyes; indocyanine green angiography: multiple hypofluorescent spots in the periphery with hyperfluorescence centrally; electroretinography: normal; multifocal ERG: demonstrated severely impaired central macular function bilaterally; electrooculogram: severely subnormal light response of the standing potential in both eyes, Arden ratio right/left eye: 1.27 / 1.26; stable vision after 2 years of follow-up"	"8y"	"8y"	"several-week history of blurry vision in both eyes"	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297084"	"04214"	"00404492"	"00000"	"Familial, autosomal recessive"	"14y"	"best-corrected visual acuity at presentation: 20/80 right and 20/40 left eye; fundus:vessel sheathing in both eyes (though most prominent at the superior arcuate fibers in his left eye), central retinal pigment epithelial changes, bilateral macular retinoschisis, and serous retinal detachments; fluorescein angiography: multiple hyperfluorescent spots in the periphery with central leakage; indocyanine green angiography: multiple hypofluorescent spots in the periphery with hyperfluorescence centrally; follow-up after 2 years: fundus examination and ocular coherence tomography of the right eye: stable,  worsening visual acuity (20/100) with a new full-thickness macular hole in the left eye"	"9y"	"12y"	"difficulty reading for 3 years"	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297139"	"04214"	"00404549"	"00000"	"Familial, autosomal recessive"	"62y"	"measurements right / left eye: visual acuity (refractive error): 0.2 (+8.25/ - 1.00, 51deg) amblyopia / 0.5 (+7.50/ - 0.50, 147deg), electroretinography, photopic: severely abnormal (below 1% of normal range: photopic less than 69 uV, scotopic less than 195 uV); abnormally prolonged latency of cone responses / severely abnormal, electroretinography, scotopic: severely abnormal / severely abnormal, electrooculogram Arden ratio: 1 / 1; fundus: both eyes: Central yellow-white deposits, with indistinct yellowish retinal abnormalities extending to temporal vascular arcades"	"54y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297140"	"04214"	"00404550"	"00000"	"Familial, autosomal recessive"	"57y"	"measurements right / left eye: visual acuity (refractive error): 0.1- (+6.25/ - 1.75, 110deg) amblyopia / 0,1- (+6.00/ - 1.75, 70deg), electroretinography, photopic: - / -, electroretinography, scotopic: - / -, electrooculogram Arden ratio: 1 / 1; fundus:  both eyes: Multifocal atrophic subretinal scars, some with white fibrosis and hyperpigmentation, extending to vascular arcades (Fig. 2)"	"25y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297141"	"04214"	"00404551"	"00000"	"Familial, autosomal recessive"	"50y"	"measurements right / left eye: visual acuity (refractive error): 0,12 (+8.00/ C- 1.50, 111) / 0.8- (+8.75/ - 2.00, 53deg), electroretinography, photopic: - / -, electroretinography, scotopic: - / -, electrooculogram Arden ratio: 1 / 1; fundus:  right eye: Central subretinal scar left eye: Yellow scrambled-egg lesion in macula both eyes: patchy midperipheral retinal Atrophy"	"47y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297142"	"04214"	"00404552"	"00000"	"Familial, autosomal recessive"	"50y"	"measurements right / left eye: visual acuity (refractive error): 0,4 (+5,50/ - 2.00, 110deg) / 0.16+ (+6.00/ - 1,75, 0deg) amblyopia, electroretinography, photopic: abnormal (1-5% of normal range: photopic: >= 69 uV and less than 78 uV, scotopic: >= 195 uV and less than 263 uV) abnormally prolonged latency of cone responses / abnormal; abnormally prolonged latency of cone responses, electroretinography, scotopic: abnormal / abnormal; abnormally prolonged latency of cone responses, electrooculogram Arden ratio: 1 / 1; fundus:  both eyes: Yellowish scrambled-egg lesions in macula, patchy midperipheral retinal atrophy"	"38y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297143"	"04214"	"00404553"	"00000"	"Familial, autosomal recessive"	"37y"	"measurements right / left eye: visual acuity (refractive error): 0.3+ (+1.00/ - 0.50, 166deg) / 0.5 (+1.00/ - 0.75, 3deg), electroretinography, photopic: normal; abnormally prolonged latency of cone responses / normal; abnormally prolonged latency of cone responses, electroretinography, scotopic: normal / normal, electrooculogram Arden ratio: 1 / 1; fundus: both eyes: Multifocal lesions with yellowish subretinal depositions at edge of lesions, mild subretinal scarring"	"18y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297144"	"04214"	"00404554"	"00000"	"Familial, autosomal recessive"	"62y"	"measurements right / left eye: visual acuity (refractive error): 0.15 (+3.00/ - 1.25, 99deg) / 0.15 (+3.25/ - 1.75, 77deg), electroretinography, photopic: abnormal (1-5% of normal range: photopic: >= 69 uV and less than 78 uV, scotopic: >= 195 uV and less than 263 uV) abnormally prolonged latency of cone responses / abnormal; abnormally prolonged latency of cone responses, electroretinography, scotopic: abnormal / abnormal, electrooculogram Arden ratio: 1 / 1; fundus:  both eyes: Yellowish scrambled-egg lesions in macula, patchy midperipheral retinal atrophy (Fig. 1E-H)"	"18y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297145"	"04214"	"00404555"	"00000"	"Familial, autosomal recessive"	"36y"	"measurements right / left eye: visual acuity (refractive error): 0.1 (+2.75/ - 1.00, 18deg) / 0.1 (+4.75/ - 1.75, 163deg), electroretinography, photopic: abnormal (1-5% of normal range: photopic: >= 69 uV and less than 78 uV, scotopic: >= 195 uV and less than 263 uV) abnormally prolonged latency of cone responses / abnormal; abnormally prolonged latency of cone responses, electroretinography, scotopic: abnormal / abnormal, electrooculogram Arden ratio: 1 / 1; fundus:  both eyes: Central and midperipheral subretinal yellow-white spots, patchy midperipheral retinal atrophy"	"7y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297146"	"04214"	"00404556"	"00000"	"Familial, autosomal recessive"	"43y"	"measurements right / left eye: visual acuity (refractive error): 0.2 (6.00) / 0.16 (6.00), electroretinography, photopic: normal; abnormally prolonged latency of cone responses / abnormal; abnormally prolonged latency of cone responses, electroretinography, scotopic: normal; abnormally prolonged latency of cone responses / abnormal; abnormally prolonged latency of cone responses, electrooculogram Arden ratio: 1 / 1; fundus: both eyes: Yellowish scrambled-egg lesions in macula, patchy midperipheral retinal atrophy"	"2y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297147"	"04214"	"00404557"	"00000"	"Familial, autosomal recessive"	"38y"	"measurements right / left eye: visual acuity (refractive error): 0.8+ (+1.00/ - 0.50, 150deg) /  0.6+ (+1.50/ - 1.00, 10deg), electroretinography, photopic: normal / normal, electroretinography, scotopic: normal / normal, electrooculogram Arden ratio: 1 / 1; fundus: both eyes: Multifocal lesions with yellowish subretinal depositions at edge of lesions, subretinal scarring"	"17y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297148"	"04214"	"00404558"	"00000"	"Familial, autosomal recessive"	"31y"	"measurements right / left eye: visual acuity (refractive error): 0.6 (+1.00/ - 0.50, 125deg) / 0.1 (+1.50/ - 0.50, 13deg), electroretinography, photopic: normal / normal, electroretinography, scotopic: abnormal / abnormal, electrooculogram Arden ratio: 1 / 1; fundus:  both eyes: Yellowish depositions at edge of lesions, mild patchy midperipheral retinal atrophy with small yellow- white spots, cystoid macular edema left eye"	"28y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297149"	"04214"	"00404559"	"00000"	"Familial, autosomal recessive"	""	"unavailable for our clinical reevaluation; medical records indicated the development of bilateral angle-closure glaucoma, premature cataract and maculopathy by 40 years of age"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297150"	"04214"	"00404560"	"00000"	"Familial, autosomal recessive"	""	"angle-closure glaucoma, moderately shortened axial lengths with mild hyperopia, bilateral cortical cataracts; retinal pigment epithelium (RPE) disturbances and scattered punctate yellow-whitish fleck deposits surrounding maculae, and accumulation of fluid in the subretinal and/or intraretinal space at the fovea; significant reduction in the electrooculogram light rise with moderately decreased electroretinogram responses was detected in all patients, implying a primary insult to the RPE"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297151"	"04214"	"00404561"	"00000"	"Familial, autosomal recessive"	""	"angle-closure glaucoma, moderately shortened axial lengths with mild hyperopia, bilateral cortical cataracts; retinal pigment epithelium (RPE) disturbances and scattered punctate yellow-whitish fleck deposits surrounding maculae, and accumulation of fluid in the subretinal and/or intraretinal space at the fovea; significant reduction in the electrooculogram light rise with moderately decreased electroretinogram responses was detected in all patients, implying a primary insult to the RPE"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297152"	"04214"	"00404562"	"00000"	"Familial, autosomal recessive"	""	"angle-closure glaucoma, moderately shortened axial lengths with mild hyperopia, bilateral cortical cataracts; retinal pigment epithelium (RPE) disturbances and scattered punctate yellow-whitish fleck deposits surrounding maculae, and accumulation of fluid in the subretinal and/or intraretinal space at the fovea; significant reduction in the electrooculogram light rise with moderately decreased electroretinogram responses was detected in all patients, implying a primary insult to the RPE"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297153"	"04214"	"00404563"	"00000"	"Familial, autosomal recessive"	""	"angle-closure glaucoma, moderately shortened axial lengths with mild hyperopia, bilateral cortical cataracts; retinal pigment epithelium (RPE) disturbances and scattered punctate yellow-whitish fleck deposits surrounding maculae, and accumulation of fluid in the subretinal and/or intraretinal space at the fovea; significant reduction in the electrooculogram light rise with moderately decreased electroretinogram responses was detected in all patients, implying a primary insult to the RPE"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297295"	"04214"	"00404720"	"00000"	"Familial, autosomal dominant"	"18y"	"hyperopia and astigmatism -  4y, visual acuity (VA) of 1.0 in both eyes; 9y - VA decrease left eye to 0.3 (right unchanged); funduscopy: Best disease lesions in both eyes, pseudohypopyon in the right eye and an egg-yolk-lesion surrounded by a fairly thin subretinal haemorrhage in the left eye; haemorrhage resolved without treatment over a period of 3.5 months, visual acuity and VA increased to 0.7 in the left eye; rapid recovery seem to indicate a limited choroidal neovascularization (CNV); 14 months later, VA increase to 1.0 and remained approximately the same (85–83 letters) through the last follow-up 18y; no signs of haemorrhage in the fundus photograph; fluorescein angiography (FA): hyperfluorescent lesion without signs of leakage; spectral domain optical coherence tomography: fairly steep lesion, overlaying retina seems to have retained its photoreceptor layer to a large extent; 10y: right eye showed a reduced acuity to 0.5 and a thin haemorrhage, surrounding a vitelliform lesion in the macula; Arden ratios of the electrooculography: 1.3; photopic electroretinogram slightly subnormal; perimetry: central scotoma; scotopic ERG, dark adaptation and colour vision: normal. 11y: VA right eye varied between 0.2 - 0.5, FA did not show an unequivocal CNV with leakage, next visit VA decrease to 0.08 - haemorrhage surrounded most of the vitelliform lesion, thicker nasally with oedema and prominent striae; additional large haemorrhage below the lesion indicating possible CNV. Indocyanine and FA: CNV with leakage at the nasal side of the lesion: photodynamic therapy was applied - 2 months after the first treatment, almost all haemorrhages had disappeared, some leakage and oedema still present; 3months after the 3rd treatment, no uneqivocal leakage detected in the fundus photograph or in the fluorescein angiogram. 14 months after, no intraretinal oedema was seen in the OCT; VA improved from 0.08 to 0.25; One year later, VA increased to 0.5 and remained unchanged until 18y; fundus photograph showed a vitelliform lesion, most likely with fibrosis, but with no signs of haemorrhage or leakage; SD-OCT: massive lesion with a prominent retinal elevation, no signs of retinal oedema in the horizontal cross section; in spite of a fairly good acuity, the photoreceptor outer and inner segments disrupted"	"04y"	"11y"	"hyperopia and astigmatism, visual acuity decrease"	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297296"	"04214"	"00404721"	"00000"	"Familial, autosomal dominant"	"14y"	"visual acuity (VA) of 1.0 in both eyes – normal; fundus: only minor pigmentary changes in the maculae; Arden ratios of the electrooculography: 1.1 both eyes"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	"14y"	""
"0000297297"	"04214"	"00404722"	"00000"	"Familial, autosomal dominant"	"40y"	"visual acuity right/left eye : 0.32/0.2; IIId lesions in both maculae with chorioretinal atrophy and corresponding pathology in fluorescein angiography. EOG was severely pathologic with an . Arden ratios of the electrooculography: 1.1 both eyes; electroretinogram: normal"	"34y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297298"	"04214"	"00404723"	"00000"	"Familial, autosomal dominant"	"67y"	"visual acuity: 0.6 right eye and strabismic amblyopia in the left eye, VA 0.08 without any visual complaints; fundus: chorioretinal atrophy and degenerative changes in both maculae with atrophy and pigment clumping in the periphery; fluorescein angiography: corresponding pathology. Arden ratios of the electrooculography: 1.2 both eyes; electroretinogram: normal"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297300"	"04214"	"00404725"	"00000"	"Familial, autosomal recessive"	"51y"	"asymptomatic, only electrooculogram abnormal; multifocal electroretinography amplitude ring averages for p1 wave ring 1-2 (normal range 71.3 (63.6-95.0) 3-6 (normal range 38.3 (20.6-46), ring ratio - ring 1-2 amplitude average divided by ring 3-6 amplitude average(nV/deg - normal range: 2.14 (1.60, 3.36)): 59.4, 28.1, 2.1 (right eye), electrooculogram Arden ratio (right eye, left eye)1.51, 1.30, visual acuity right eye, left eye (refraction): 1.3, 1.3 (-1), subfoveal choroidal thickness right eye, left eye (um): 512, 464, anterior chamber depth right eye, left eye (mm): 2.33, 2.34, anterior chamber angle right eye temporal, nasal (degrees): 26.1, 20.0"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297301"	"04214"	"00404726"	"00000"	"Familial, autosomal recessive"	"51y"	"asymptomatic, non-penetrant; multifocal electroretinography amplitude ring averages for p1 wave ring 1-2 (normal range 71.3 (63.6-95.0) 3-6 (normal range 38.3 (20.6-46), ring ratio - ring 1-2 amplitude average divided by ring 3-6 amplitude average(nV/deg - normal range: 2.14 (1.60, 3.36)): 62.1, 26.6, 2.3 (right eye), electrooculogram Arden ratio (right eye, left eye)3.38, 3.13, visual acuity right eye, left eye (refraction): 1.3, 1.3 (0), subfoveal choroidal thickness right eye, left eye (um): 249, 288, anterior chamber depth right eye, left eye (mm): 3.65, 3.60, anterior chamber angle right eye temporal, nasal (degrees): 41.7, 39.2"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297302"	"04214"	"00404727"	"00000"	"Familial, autosomal recessive"	"27y"	"asymptomatic, only electrooculogram abnormal; multifocal electroretinography amplitude ring averages for p1 wave ring 1-2 (normal range 71.3 (63.6-95.0) 3-6 (normal range 38.3 (20.6-46), ring ratio - ring 1-2 amplitude average divided by ring 3-6 amplitude average(nV/deg - normal range: 2.14 (1.60, 3.36)): 56.0, 32.4, 1.7 (right eye), electrooculogram Arden ratio (right eye, left eye)1.58, 1.69, visual acuity right eye, left eye (refraction): 1.3, 1.3 (0), subfoveal choroidal thickness right eye, left eye (um): not analysed, anterior chamber depth right eye, left eye (mm): 3.65, 3.72, anterior chamber angle right eye temporal, nasal (degrees): 31.5, 28.2"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297303"	"04214"	"00404728"	"00000"	"Familial, autosomal recessive"	"10y"	"10y: hyperautofluorescent widespread vitelliform changes in the posterior pole indicating the presence and accumulation of retinoid derivatives such as lipofuscin; photoreceptor outer segments were elongated in a precipitate-like manner and focal mounds were present on the Bruch membrane, these structures being separated by subretinal fluid; cystoid macular edema localized in the inner nuclear layer; multifocal electroretinography: reduced central but preserved paracentral retinal function in the right eye, absolute amplitudes: more pronounced amplitude reduction throughout the field in the left eye compared to the right eye; no consistent light rise in the electro-oculography; full-field electroretinography indicated reduced rod-driven response in the index case compared to other family members, while the cone-driven responses were better preserved, except for a delay in 30 Hz flicker implicit time; multifocal electroretinography amplitude ring averages for p1 wave ring 1-2 (normal range 71.3 (63.6-95.0) 3-6 (normal range 38.3 (20.6-46), ring ratio - ring 1-2 amplitude average divided by ring 3-6 amplitude average(nV/deg - normal range: 2.14 (1.60, 3.36)): 49.9, 37.5, 1.3 (right eye), electrooculogram Arden ratio (right eye, left eye)1.70, 1.48, visual acuity right eye, left eye (refraction): 0.9, 0.28 (+1), subfoveal choroidal thickness right eye, left eye (um): 281, 219, anterior chamber depth right eye, left eye (mm): 3.48, 3.52, anterior chamber angle right eye temporal, nasal (degrees): 41.1, 44.6"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297305"	"04214"	"00404730"	"00000"	"Familial, autosomal dominant"	"32y"	"best corrected visual acuity right/left eye: 20/40, 20/32, fundus findings: right eye pseudohypopyon, left eye vitelliruptive lesion, electrooculography Arden ratios: not available, electroretinography: not available"	"21y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297306"	"04214"	"00404731"	"00000"	"Familial, autosomal dominant"	"6y"	"best corrected visual acuity right/left eye: 20/40, 20/50, fundus findings: both eyes: vitelliform lesion, electrooculography Arden ratios: not available, electroretinography: not available"	"4y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297307"	"04214"	"00404732"	"00000"	"Familial, autosomal dominant"	"36y"	"best corrected visual acuity right/left eye: 20/50, 20/50, fundus findings: both eyes: pseudohypopyon, electrooculography Arden ratios: right eye 1.32, left eye 1.25, electroretinography: normal"	"30y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297308"	"04214"	"00404733"	"00000"	"Familial, autosomal dominant"	"10y"	"best corrected visual acuity right/left eye: 20/40, 20/40, fundus findings: right eye pseudohypopyon, left eye vitelliruptive lesion, electrooculography Arden ratios: right eye 1.28, left eye 1.3, electroretinography: normal"	"9y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297309"	"04214"	"00404734"	"00000"	"Familial, autosomal dominant"	"45y"	"best corrected visual acuity right/left eye: 20/40, 20/32, fundus findings: right eye pseudohypopyon, left eye vitelliform lesion, electrooculography Arden ratios: right eye 1.34, left eye 1.21, electroretinography: normal"	"42y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297310"	"04214"	"00404735"	"00000"	"Familial, autosomal dominant"	"58y"	"best corrected visual acuity right/left eye: 20/32, 20/100, fundus findings: both eyes: pseudohypopyon, electrooculography Arden ratios: not available, electroretinography: not available"	"50y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297311"	"04214"	"00404736"	"00000"	"Familial, autosomal dominant"	"26y"	"best corrected visual acuity right/left eye: 20/32, 20/40, fundus findings: both eyes: pseudohypopyon, electrooculography Arden ratios: not available, electroretinography: not available"	"25y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297312"	"04214"	"00404737"	"00000"	"Familial, autosomal recessive"	"6y"	"best corrected visual acuity right/left eye: 20/200, 20/63, fundus findings: right eye subretinal fibrosis, left eye subretinal fibrosis, yellowish deposits, electrooculography Arden ratios: right eye 0.95, left eye 1.18, electroretinography: reduced scotopic and photopic responses"	"5y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297313"	"04214"	"00404738"	"00000"	"Familial, autosomal recessive"	"26y"	"best corrected visual acuity right/left eye: 20/63, 20/200, fundus findings: both eyes: yellowish deposits, electrooculography Arden ratios: right eye 1.11, left eye 1.23, electroretinography: reduced scotopic and photopic responses"	"23y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297314"	"04214"	"00404739"	"00000"	"Familial, autosomal recessive"	"11y"	"best corrected visual acuity right/left eye: 20/32, 20/32, fundus findings: both eyes: macular scar, electrooculography Arden ratios: not available, electroretinography: not available"	"8y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297315"	"04214"	"00404740"	"00000"	"Familial, autosomal recessive"	"11y"	"best corrected visual acuity right/left eye: 20/200, 20/40, fundus findings: right eye macular scar, left eye vitelliruptive lesion, electrooculography Arden ratios: not available, electroretinography: not available"	"9y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297316"	"04214"	"00404741"	"00000"	"Familial, autosomal recessive"	"15y"	"best corrected visual acuity right/left eye: 20/63, 20/400, fundus findings: both eyes: hyperpigmented scar, electrooculography Arden ratios: right eye 1.20, left eye 1.32, electroretinography: normal"	"11y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297317"	"04214"	"00404742"	"00000"	"Familial, autosomal recessive"	"25y"	"best corrected visual acuity right/left eye: 20/50, 20/40, fundus findings: right eye pseudohypopyon, left eye vitelliform lesion, electrooculography Arden ratios: not available, electroretinography: not available"	"22y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297318"	"04214"	"00404749"	"00000"	"Familial, autosomal dominant"	"30y8m"	"measurements right/left eye: electrooculography Arden ratio: 1.41 / 1.9, disease stage: vitelliruptive/ vitelliruptive, best corrected visual acuity: 0.18 / 0.48, refraction, D: 1.5 / 2, axial length, mm: 21.78 / 21.58"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297319"	"04214"	"00404750"	"00000"	"Familial, autosomal dominant"	"54y8m"	"measurements right/left eye: electrooculography Arden ratio: 1.36 / 1.28, disease stage: vitelliruptive/ vitelliruptive, best corrected visual acuity: 0.6 / 0.48, refraction, D: 4.25 / 4, axial length, mm: 22.03 / 22.05"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297320"	"04214"	"00404751"	"00000"	"Familial, autosomal dominant"	"16y6m"	"measurements right/left eye: electrooculography Arden ratio: 1.13 / 1.68, disease stage: vitelliruptive/ vitelliruptive, best corrected visual acuity: -0.12 / 0, refraction, D: 0 / 0.5, axial length, mm: 22.64 / 22."	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297321"	"04214"	"00404752"	"00000"	"Familial, autosomal dominant"	"57y8m"	"measurements right/left eye: , disease stage: subclinical/ vitelliruptive, best corrected visual acuity: 0.18 / 0.88, refraction, D: 2.5 / 2.75, axial length, mm: 23.6 / 23.31"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297322"	"04214"	"00404753"	"00000"	"Familial, autosomal dominant"	"27y11m"	"measurements right/left eye: electrooculography Arden ratio: 1.18 / 1.27, disease stage: subclinical/ subclinical, best corrected visual acuity: 0 / 0, refraction, D: 5 / 5, axial length, mm: - / -"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297323"	"04214"	"00404754"	"00000"	"Familial, autosomal dominant"	"52y6m"	"measurements right/left eye: electrooculography Arden ratio: 1.8 / 1.76, disease stage: vitelliruptive/ vitelliruptive, best corrected visual acuity: 0.7 / 0.4, refraction, D: 3 / 3.5, axial length, mm: 22.04 / 21.27"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297324"	"04214"	"00404755"	"00000"	"Familial, autosomal dominant"	"5y8m"	"measurements right/left eye: , disease stage: pseudohypopyon/ pseudohypopyon, best corrected visual acuity: 0.6 / 0.8, refraction, D: 7.5 / 7, axial length, mm: - / -"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297325"	"04214"	"00404756"	"00000"	"Familial, autosomal dominant"	"41y"	"measurements right/left eye: , disease stage: (subclinical)/ subclinical, best corrected visual acuity: -0.1 / 0, refraction, D: -2.25 / 1.5, axial length, mm: -22.98 / 23.6"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297326"	"04214"	"00404757"	"00000"	"Familial, autosomal dominant"	"34y1m"	"measurements right/left eye: electrooculography Arden ratio: -1.22 / 1.17, disease stage: (atrophic)/ atrophic, best corrected visual acuity: -1.3 / 0.3, refraction, D: -5 / 2.5, axial length, mm: - / -"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297327"	"04214"	"00404758"	"00000"	"Familial, autosomal dominant"	"61y11m"	"measurements right/left eye: , disease stage: vitelliruptive/ -, best corrected visual acuity: 0.7 / -, refraction, D: 6 / -, axial length, mm: - / -"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297328"	"04214"	"00404759"	"00000"	"Familial, autosomal dominant"	"18y6m"	"measurements right/left eye: electrooculography Arden ratio: 1.29 / 1.41, disease stage: subclinical/ subclinical, best corrected visual acuity: 0 / 0, refraction, D: 0.25 / 0, axial length, mm: 23.33 / 23.29"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297329"	"04214"	"00404760"	"00000"	"Familial, autosomal dominant"	"14y11m"	"measurements right/left eye: electrooculography Arden ratio: -1.88 / 1.71, disease stage: (vitelliform)/ vitelliform, best corrected visual acuity: -0.1 / 0, refraction, D: -4 / 3, axial length, mm: -22.84 / 23.27"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297330"	"04214"	"00404761"	"00000"	"Familial, autosomal dominant"	"47y2m"	"measurements right/left eye: electrooculography Arden ratio: 1.28 / 1.26, disease stage: subclinical/ subclinical, best corrected visual acuity: 0.18 / 0.1, refraction, D: 0 / 0.25, axial length, mm: 23.88 / 23.66"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297331"	"04214"	"00404762"	"00000"	"Familial, autosomal dominant"	"7y6m"	"measurements right/left eye: , disease stage: vitelliruptive/ vitelliruptive, best corrected visual acuity: 0.1 / 0.1, refraction, D: 4.25 / 4.5, axial length, mm: - / -"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297332"	"04214"	"00404763"	"00000"	"Familial, autosomal dominant"	"18y"	"best corrected visual acuity right/left eye (baseline): 0.2 / 0.1, disease stage right/left eye (baseline): pseudohypopyon / pseudohypopyon; follow-up (months): 61, best corrected visual acuity right/left eye (follow-up): 0.2 / 0.1, disease stage right/left eye (follow-up): vitelliruptive / vitelliruptive"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297333"	"04214"	"00404764"	"00000"	"Familial, autosomal dominant"	"44y"	"best corrected visual acuity right/left eye (baseline): 0.4 / 1, disease stage right/left eye (baseline): vitelliform / vitelliform; follow-up (months): 61, best corrected visual acuity right/left eye (follow-up): 0.4 / 1, disease stage right/left eye (follow-up): pseudohypopyon / vitelliruptive"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297334"	"04214"	"00404765"	"00000"	"Familial, autosomal dominant"	"23y"	"best corrected visual acuity right/left eye (baseline): 0.7 / 0.8, disease stage right/left eye (baseline): fibrotic / fibrotic; follow-up (months): 38, best corrected visual acuity right/left eye (follow-up): 0.7 / 0.8, disease stage right/left eye (follow-up): fibrotic / fibrotic"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297335"	"04214"	"00404766"	"00000"	"Familial, autosomal dominant"	"50y"	"best corrected visual acuity right/left eye (baseline): 1 / 1, disease stage right/left eye (baseline): atrophic / atrophic; follow-up (months): 38, best corrected visual acuity right/left eye (follow-up): 1 / 1, disease stage right/left eye (follow-up): atrophic / atrophic"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297336"	"04214"	"00404767"	"00000"	"Familial, autosomal dominant"	"11y"	"best corrected visual acuity right/left eye (baseline): 0.1 / 0.1, disease stage right/left eye (baseline): vitelliruptive / pseudohypopyon; follow-up (months): 24, best corrected visual acuity right/left eye (follow-up): 0.1 / 0.1, disease stage right/left eye (follow-up): pseudohypopyon / vitelliruptive"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297337"	"04214"	"00404768"	"00000"	"Familial, autosomal dominant"	"20y"	"best corrected visual acuity right/left eye (baseline): 1 / 0.6, disease stage right/left eye (baseline): fibrotic / fibrotic; follow-up (months): 24, best corrected visual acuity right/left eye (follow-up): 1 / 0.6, disease stage right/left eye (follow-up): fibrotic / fibrotic"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297338"	"04214"	"00404769"	"00000"	"Familial, autosomal dominant"	"45y"	"best corrected visual acuity right/left eye (baseline): 0.7 / 0.3, disease stage right/left eye (baseline): atrophic / atrophic; follow-up (months): 24, best corrected visual acuity right/left eye (follow-up): 0.7 / 0.3, disease stage right/left eye (follow-up): atrophic / atrophic"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297339"	"04214"	"00404770"	"00000"	"Familial, autosomal dominant"	"41y"	"best corrected visual acuity right/left eye (baseline): 0.4 / 1, disease stage right/left eye (baseline): fibrotic / fibrotic; follow-up (months): 50, best corrected visual acuity right/left eye (follow-up): 0.4 / 1, disease stage right/left eye (follow-up): fibrotic / fibrotic"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297340"	"04214"	"00404771"	"00000"	"Familial, autosomal dominant"	"12y"	"best corrected visual acuity right/left eye (baseline): 0 / 0, disease stage right/left eye (baseline): previtelliform / previtelliform; follow-up (months): 50, best corrected visual acuity right/left eye (follow-up): 0 / 0, disease stage right/left eye (follow-up): previtelliform / previtelliform"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297341"	"04214"	"00404772"	"00000"	"Familial, autosomal dominant"	"36y"	"best corrected visual acuity right/left eye (baseline): 0.5 / 0.5, disease stage right/left eye (baseline): vitelliruptive / vitelliruptive; follow-up (months): 51, best corrected visual acuity right/left eye (follow-up): 0.5 / 0.5, disease stage right/left eye (follow-up): vitelliruptive / vitelliruptive"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297342"	"04214"	"00404773"	"00000"	"Familial, autosomal dominant"	"11y"	"best corrected visual acuity right/left eye (baseline): 0.1 / 1, disease stage right/left eye (baseline): vitelliruptive / vitelliruptive; follow-up (months): 51, best corrected visual acuity right/left eye (follow-up): 0 / 0.4, disease stage right/left eye (follow-up): fibrotic / fibrotic"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297343"	"04214"	"00404774"	"00000"	"Familial, autosomal dominant"	"71y"	"best corrected visual acuity right/left eye (baseline): 0.4 / 0, disease stage right/left eye (baseline): pseudohypopyon / pseudohypopyon; follow-up (months): 12, best corrected visual acuity right/left eye (follow-up): 0.4 / 0, disease stage right/left eye (follow-up): previtelliform / previtelliform"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297344"	"04214"	"00404775"	"00000"	"Familial, autosomal dominant"	"14y"	"best corrected visual acuity right/left eye (baseline): 0.4 / 0.3, disease stage right/left eye (baseline): fibrotic / fibrotic; follow-up (months): 72, best corrected visual acuity right/left eye (follow-up): 0.4 / 0.3, disease stage right/left eye (follow-up): vitelliruptive / pseudohypopyon"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297345"	"04214"	"00404776"	"00000"	"Familial, autosomal dominant"	"9y"	"best corrected visual acuity right/left eye (baseline): 0 / 0, disease stage right/left eye (baseline): previtelliform / previtelliform, disease stage right/left eye (follow-up): 0 / 0best corrected visual acuity right/left eye (baseline): 0.4 / 1, disease stage right/left eye (baseline): vitelliform / vitelliform; follow-up (months): 61, best corrected visual acuity right/left eye (follow-up): 0.4 / 1, disease stage right/left eye (follow-up): pseudohypopyon / vitelliruptiveprevitelliform / previtelliform"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297346"	"04214"	"00404777"	"00000"	"Familial, autosomal dominant"	"17y"	"best corrected visual acuity right/left eye (baseline): 0 / 0, disease stage right/left eye (baseline): previtelliform / previtelliform, disease stage right/left eye (follow-up): 0 / 0best corrected visual acuity right/left eye (baseline): 0.7 / 0.8, disease stage right/left eye (baseline): fibrotic / fibrotic; follow-up (months): 38, best corrected visual acuity right/left eye (follow-up): 0.7 / 0.8, disease stage right/left eye (follow-up): fibrotic / fibroticprevitelliform / previtelliform"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297347"	"04214"	"00404778"	"00000"	"Familial, autosomal dominant"	"20y"	"best corrected visual acuity right/left eye (baseline): 0 / 0, disease stage right/left eye (baseline): fibrotic / fibrotic, disease stage right/left eye (follow-up): 0 / 0best corrected visual acuity right/left eye (baseline): 1 / 1, disease stage right/left eye (baseline): atrophic / atrophic; follow-up (months): 38, best corrected visual acuity right/left eye (follow-up): 1 / 1, disease stage right/left eye (follow-up): atrophic / atrophicpseudohypopyon / vitelliruptive"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297348"	"04214"	"00404779"	"00000"	"Familial, autosomal dominant"	"47y"	"best corrected visual acuity right/left eye (baseline): 0.2 / 0.1, disease stage right/left eye (baseline): previtelliform + multifocal / previtelliform + multifocal, disease stage right/left eye (follow-up): 0.2 / 0.1best corrected visual acuity right/left eye (baseline): 0.1 / 0.1, disease stage right/left eye (baseline): vitelliruptive / pseudohypopyon; follow-up (months): 24, best corrected visual acuity right/left eye (follow-up): 0.1 / 0.1, disease stage right/left eye (follow-up): pseudohypopyon / vitelliruptiveprevitelliform + multifocal / previtelliform + multifocal"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297349"	"04214"	"00404780"	"00000"	"Familial, autosomal dominant"	"8y"	"best corrected visual acuity right/left eye (baseline): 0.2 / 0.2, disease stage right/left eye (baseline): pseudohypopyon / pseudohypopyon, disease stage right/left eye (follow-up): 0.2 / 0.2best corrected visual acuity right/left eye (baseline): 1 / 0.6, disease stage right/left eye (baseline): fibrotic / fibrotic; follow-up (months): 24, best corrected visual acuity right/left eye (follow-up): 1 / 0.6, disease stage right/left eye (follow-up): fibrotic / fibroticvitelliruptive / pseudohypopyon"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297350"	"04214"	"00404781"	"00000"	"Familial, autosomal dominant"	"6y"	"best corrected visual acuity right/left eye (baseline): 0 / 0, disease stage right/left eye (baseline): previtelliform / previtelliform, disease stage right/left eye (follow-up): 0 / 0best corrected visual acuity right/left eye (baseline): 0.7 / 0.3, disease stage right/left eye (baseline): atrophic / atrophic; follow-up (months): 24, best corrected visual acuity right/left eye (follow-up): 0.7 / 0.3, disease stage right/left eye (follow-up): atrophic / atrophicprevitelliform / previtelliform"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297351"	"04214"	"00404782"	"00000"	"Familial, autosomal dominant"	"27y"	"best corrected visual acuity right/left eye (baseline): 0.4 / 0.1, disease stage right/left eye (baseline): fibrotic / fibrotic, disease stage right/left eye (follow-up): 0.4 / 0.1best corrected visual acuity right/left eye (baseline): 0.4 / 1, disease stage right/left eye (baseline): fibrotic / fibrotic; follow-up (months): 50, best corrected visual acuity right/left eye (follow-up): 0.4 / 1, disease stage right/left eye (follow-up): fibrotic / fibroticnone / none"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297352"	"04214"	"00404783"	"00000"	"Familial, autosomal dominant"	"23y"	"best corrected visual acuity right/left eye (baseline): 0.2 / 0.4, disease stage right/left eye (baseline): vitelliruptive / vitelliruptive, disease stage right/left eye (follow-up): 0.2 / 0.4best corrected visual acuity right/left eye (baseline): 0 / 0, disease stage right/left eye (baseline): previtelliform / previtelliform; follow-up (months): 50, best corrected visual acuity right/left eye (follow-up): 0 / 0, disease stage right/left eye (follow-up): previtelliform / previtelliformfibrotic / fibrotic"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297353"	"04214"	"00404784"	"00000"	"Familial, autosomal recessive"	"26y"	"12y: Stargardt disease diagnosis, changed 2 years later to exudative polymorphous vitelliform macular dystrophy - electrophysiological studies: normal rod electroretinography (ERG) but abnormal flicker ERG with b-wave delay and abnormal electro-oculography (EOG). 24y: best-corrected visual acuity (BCVA): 6/36 right and 6/60 left; minimal refractive error of 0.5 dioptre spherical equivalent hyperopia in each eye; intraocular pressure: 13 mmHg right and 16 mmHg left eye; fundoscopy: normal optic discs, grossly abnormal retina bilaterally, with widespread subretinal yellow lesions which autofluoresced and schitic changes at the foveae; electrophysiology significantly deteriorated: delayed and reduced rod responses, further delayed photopic and flicker electroretinogram and reduced P50 in the pattern ERG and a grossly abnormal multifocal ERG;  remained grossly abnormal. Oral acetazolamide lead to anatomical improvement in the central retinal thickness over a 6-month period - BCVA improved to 6/18 right eye, with no change in that for the left; dose of his acetazolamide halved to 250 mg twice daily due to mild systemic side effects, reporting left eye discomfort and increasing floaters followed; visual acuity unchanged. left IOP markedly raised at 38 mmHg, compared with 4 mmHg for his right eye; angle-closure glaucoma diagnosed and effectively treated initially with topical antihypertensives and peripheral iridotomies; left-sided IOP continued to rise over a few days to 60 mmHg. B-scan ultrasound excluded choroidal effusion; axial length right/left eye: 21.64 mm / 22.06 mm; aterior chamber depth: 2.48 mm / 2.47 mm left; optic disc cup-to-disc ratio of less than 0.4 bilaterally; phacoemulsification lens extraction was required to lower the IOP, and a 24.0 dioptre posterior chamber lens (A-constant 119.0); IOP was controlled at 18 mmHg thereafter; required continued use of topical prostaglandin and beta-blocker"	""	"12y"	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	"Stargardt disease"	""
"0000297354"	"04214"	"00404788"	"00000"	"Familial, autosomal dominant"	"12y"	"monolateral, best corrected visual acuity: 20/20, electrooculogram Arden ratio: 2.45, optical coherence tomography: normal, mean retinal sensitivity within the central 10 degrees: 2deg: 17, 4 deg: 17.5, 6 deg: 18, 10 deg: 18.5"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297355"	"04214"	"00404789"	"00000"	"Familial, autosomal dominant"	"45y"	"monolateral, best corrected visual acuity: 20/20, electrooculogram Arden ratio: 2.4, optical coherence tomography: normal, mean retinal sensitivity within the central 10 degrees: 2deg: 17, 4 deg: 18, 6 deg: 19.7, 10 deg: 19.5"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297356"	"04214"	"00404790"	"00000"	"Familial, autosomal dominant"	"53y"	"bilateral, best corrected visual acuity: 20/20, electrooculogram Arden ratio right/left eye: 1.12 / 1.15, optical coherence tomography right/left eye: thickened interdigitation zone / thickened interdigitation zone, mean retinal sensitivity within the central 10 degrees right/left eye: 2deg: 17.1 / 17.2, 4 deg: 17.7 / 17.6, 6 deg: 18 / 18.2, 10 deg: 18.3 / 18.1"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297357"	"04214"	"00404791"	"00000"	"Familial, autosomal dominant"	"56y"	"bilateral, best corrected visual acuity: 20/20, electrooculogram Arden ratio right/left eye: 2.35 / 2.45, optical coherence tomography right/left eye: thickened interdigitation zone / thickened interdigitation zone, mean retinal sensitivity within the central 10 degrees right/left eye: 2deg: 18.9 / 17.1, 4 deg: 19.5 / 16, 6 deg: 19.4 / 15.2, 10 deg: 19.2 / 15.3"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297358"	"04214"	"00404792"	"00000"	"Familial, autosomal dominant"	"60y"	"bilateral, best corrected visual acuity: 20/20, electrooculogram Arden ratio right/left eye: 2.84 / 2.7, optical coherence tomography right/left eye: normal / normal, mean retinal sensitivity within the central 10 degrees right/left eye: 2deg: 18 / 18.1, 4 deg: 18 / 18.2, 6 deg: 19.3 / 19.3, 10 deg: 19.6 / 19.5"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297359"	"04214"	"00404793"	"00000"	"Familial, autosomal dominant"	"26y"	"bilateral, best corrected visual acuity: 20/20, electrooculogram Arden ratio right/left eye: 3.22 / 3.45, optical coherence tomography right/left eye: normal / normal, mean retinal sensitivity within the central 10 degrees right/left eye: 2deg: 15.7 / 18, 4 deg: 17.5 / 17.3, 6 deg: 18 / 18, 10 deg: 18.3 / 18.2"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297361"	"04214"	"00404795"	"00000"	"Familial, autosomal recessive"	"11y"	"best corrected visual acuity right, left eye: (BCVA) 6/9-1, 6/ 9+3; slit lamp biomicroscopy: white and quiet anterior segments, normal intraocular pressures with open angles on gonioscopy; cycloplegic and subjective refraction: low hypermetropia with astigmatism (+2.25/1.75  175); dilated fundoscopy: symmetrical multifocal arcuate and macular vitelliform lesions in both eyes; 2 months late: BCVA 3/18 left eye; subretinal hemorrhage suggesting choroidal neovascular membrane (CNVM); fluorescein angiogram (FFA): mid phase hyperfluorescence with late leakage confirming a CNVM associated with Best�s vitelliform macular dystrophy (BVMD); electroretinogram (ERG): scotopic and photopic flash and flicker responses within normal ranges, normal dark adaptation and reduced oscillatory potentials in the right eye; electro-oculogram (EOG) Arden ratio 1.06; optical coherence tomography (OCT): hypereflective areas of material accumulated in the subretinal space in both eyes, CNVM with associated intra retinal fluid. Following the treatment, BCVA left eye improved to 6/12, stable after a 2-year period with no further treatments required; after 6 months, OCT findings demonstrate resolution of the intraretinal fluid with organization of the subretinal hyper reflective material, resembling more a vitelliform lesion without the CNV"	"9y"	""	"distorted and blurred vision for several months"	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000297374"	"04214"	"00404810"	"00000"	"Familial, autosomal recessive"	"11y"	"best corrected visual acuity: 20/25 both eyes, no angle closure; fundus: bilateral, multifocal subretinal hyperautofluorescent yellowish deposits from the posterior poles up to the equator; cystoid macular edema and shallow serous macular detachments in both eyes. Treatment with topical nepafenac 0.1% (1 month) and prednisone 10 mg PO (3 weeks) failed to improve vision or fundus appearance"	"10y6m"	""	"reduced vision and central scotoma"	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297375"	"04214"	"00404811"	"00000"	"Familial, autosomal recessive"	"7y"	"almost identical clinical picture as his brother"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297376"	"04214"	"00404812"	"00000"	"Familial, autosomal recessive"	""	"fundus: bilateral, multifocal curvilinear subretinal hyperautofluorescent yellowish deposits were present in both eyes with cystic edema and subretinal fluid at the maculae; subfoveal choroidal thicknesses: 586 um in the right eye and 482 mm in the left eye; 3 years after first presentation, the vision remained stable at 20/80 in both eyes"	"6y"	""	"poor vision"	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297377"	"04214"	"00404813"	"00000"	"Familial, autosomal recessive"	""	"fundus: bilateral, confluent curvilinear subretinal hyperautofluorescent yellowish vitelliform deposits; more multifocal and dispersed over 3 years of follow-up; bilateral multifocal serous retinal detachments and cystic edema involved both maculae; subfoveal choroidal thickness: 537 um in the right eye and 527 um in the left eye"	"12y"	""	"reduced vision"	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297378"	"04214"	"00404814"	"00000"	"Familial, autosomal recessive"	"42y"	"deteriorating central vision, fundus: white-yellow vitelliform lesion was present at the left fovea, and RPE and retinal atrophy within the posterior poles; shallow subretinal fluid both maculae; subfoveal choroidal thickness: 370 um in both eyes"	"5y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297400"	"04214"	"00404836"	"00000"	"Familial, autosomal dominant"	"20y"	"best corrected visual acuity (BCVA): 20/25 both eyes with 4 diopters hyperopia; fundus examinations revealed a vitelliform disc in the vitelliruptive stage in the macular area both eyes; electrooculography Arden ratios of the right/left eye 1.35 / 1.25; photopic and scotopic electroretinogram responses:normal limits; 14y: central scotoma due to choroidal neovascularization with macular hemorrhage in right eye; BCVA 20/32; patient received photodynamic therapy treatment - after 2 months the macular hemorrhage had been re-absorbed and no leakage was detected at fluorescein angiography; 15y BCVA increase to 20/25 in right eye, stable in left eye; 20y BCVA 20/25 both eyes; funduscopy and autofluorescence: vitelliruptive lesions and some degree of fibrosis in right eye; optical coherence tomography in macula showed in both eyes a foveal elevation with clumping of hyper-reflective matter on the posterior retinal surface and some irregular thickening of the retinal pigment epithelium layer; microperimetry: both eyes stable central fixation with mild reduction of retinal sensitivity in the vitelliruptive lesions"	""	"8y"	"macular dystrophy"	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297401"	"04214"	"00404837"	"00000"	"Familial, autosomal dominant"	"18y"	"best corrected visual acuity (BCVA): 20/20 both eyes; fundus: vitelliform disc in both eyes; electrooculography Arden ratios of the right/left eye: 1.25 / 1.20; photopic and scotopic electroretinogram: normal; 9y: visual reduction in right eye; fluorescein angiography and optical coherence tomography: choroidal neovascularization with macular hemorrhage; BCVA: 20/200 patient received photodynamic therapy treatment. After 2 months visual acuity stable in both eyes, macular hemorrhage re-absorbed; fluorescein angiography: no leakage in right eye. 10y: BCVA 20/200 right eye with macular fibrosis, 20/20 left eye with a vitelliruptive lesion; BCVA improved to 20/100 in right eye 1 year later and to 20/50 4 years later, while it was stable in left eye. 18y: BCVA was 20/ 50 right eye and 20/20 left eye; autofluorescence and fundus photography: fibrosis reduction with hyperpigmentation in right eye and a vitelliruptive lesion in left eye with a slight accumulation of the deposits in the lower part of the vitelliform disc; optical coherence tomography in macula: some hyper-reflective matter with some cysts in the treated eye which have remained unchanged since 10y.; microperimetry: unstable central fixation with a deep scotoma in right eye and stable central fixation with good retinal sensitivity in left eye"	""	"7y"	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297402"	"04214"	"00404838"	"00000"	"Familial, autosomal dominant"	"17y"	"best corrected visual acuity (BCVA): 20/25 both eyes; fundus: vitelliform disc in both eyes; electrooculography Arden ratios of the right/left eye: 1.15 / 1.22; photopic and scotopic electroretinogram responses: normal. 11y:  visual reduction in left eye; fluorescein angiography: choroidal neovascularization with macular hemorrhage; BCVA 20/200; patient received photodynamic therapy treatment left eye. After 5 months, visual acuity was stable in left eye and had decreased to 20/100 with macular hemorrhage in right eye; received photodynamic therapy treatment in right eye. 13y: BCVA 20/40 , 20/25, macular fibrosis in both eyes. 17y: BCVA stable; fundus photography and autofluorescence imaging: small areas of fibrosis in both eyes; optical coherence tomography in macula: subretinal hyper-reflective matter associated with a small detachment of the neurosensory retina; microperimetry: in both eyes stable central fixation with small paracentral scotomas"	""	"4y"	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297403"	"04214"	"00404839"	"00000"	"Familial, autosomal dominant"	"23y"	"best-corrected visual acuity (LogMAR) right/left eye: 0.1 / 0.4; fundus:vitelliruptive lesions with a scrambled egg-like appearance and dispersion of the vitelliform material, including signs of atrophy, in the left eye; fluorescein angiography: significant early hyperfluorescence associated with moderate leakage right eye, macular lesions that simulated a pattern of dystrophy left eye; indocyanine green chorioangiography: hypofluorescence in the early stages of the angiographic sequence in the left and right eyes and subsequently detected little abnormal hyperfluorescence the late stages; anterior segment chamber depths right/left eye: 2.09 / 2.12 mm; central corneal thickness right/left eye: 548 um / 558 um"	""	"21y"	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297404"	"04214"	"00404840"	"00000"	"Familial, autosomal dominant"	"22y"	"best-corrected visual acuity (LogMAR) right/left eye: 0.7 / 0.4, fundus: vitelliruptive lesions with a scrambled egg-like appearance and dispersion of the vitelliform material with signs of atrophy of the right eye; patient supersensitive to fluorescein -no FFA or ICGA results were obtained; anterior chamber depth right/left eye: 3.15 / 3.17 mm; central corneal thickness right/left eye: 564 um / 568 um; spectral domain optical coherence tomography (OCT): absence of the foveal pit, serous retinal detachment, cystoid macular edema and interruption of the outer limiting; right eye -prominent yellow-white subretinal scarring with pigmented borders, surrounded by a serous retinal detachment; left eye - atrophic lesion; foveal region of the right eye unusually thick due to the presence of abnormal neuroretinal detachment from the retinal pigment epithelium (RPE) suggested to have been triggered by an aberrant accumulation of fluid within the choriocapillaris and between the RPE and the fovea; foveal region of the left eye abnormally thick due to irregularities in the deep retinal layers, with aberrant junctions between the inner and outer segments, as well as a prominent and hyperreflective structure in contact with the overlying retina, surrounded by elevated retina with underlying spots of increased reflectivity"	""	"19y"	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297405"	"04214"	"00404841"	"00000"	"Familial, autosomal dominant"	"52y"	"39y, fundus: bilateral round, yellow lesions located superior temporal to the maculae; 52y best-corrected visual acuities: 20/20; 4-diopter hyperopic prescription at distance in each eye; pupils and extraocular motilities, anterior segment: normal; Goldmann applanation tonometry right/left eye: 13 mm Hg / 15 mm Hg; fundus: bilateral atrophic round lesions, about 1.0 to 1.5 disc diameters in size, located in the superior temporal arcade, each lesion appeared to have a slight amount of possible lipofuscin material on the inferior edge; central macula flat and homogenous in each eye; optic nerves pink with distinct margins, cup-to-disc ratio right/left eye: 0.35 / 0.30; peripheral fundus: normal. 6 months: Heidelberg retina angiography + optical coherence tomography in central macula: normal foveal contour; optical coherence tomography of the superior nasal portion of the lesions: subretinal fluid greater right than left eye with disruption of the inner/outer segment junction and outer retinal layers; Retinal atrophy with loss of the outer retinal layers most prominently in left eye; scans through the inferior edge of the lesion right eye: dense hyperreflective deposits with trace subretinal fluid located between the retinal pigment epithelium (RPE) and the inner/outer segment junction; fundus autofluorescence: hyperfluorescence throughout the lesions, increasing more toward the periphery in the areas containing lipofuscin or stressed RPE cells. Prominent circular areas of hypofluorescence with surrounding mottled hypofluorescence delineated atrophy or loss of RPE cells; full field electroretinography and visual evoked response imaging system: scotopic responses for the dark adapted rod response: decreased amplitude and increased latency, scotopic combined, single flash cone, and photopic flicker responses: normal; electrooculography Arden ratio right/left eye: 1.371 / 1.291 (time to peak of 10.8 minutes); fluorescein angiography: slight hyperfluorescence of the lesions with an absence of fluorescence at the areas of atrophy, hyperfluorescent areas gradually increased fluorescence and then slightly decreased in late phase, atrophic areas demonstrated late staining; no choroidal neovascular membrane"	""	"16y"	""	""	""	""	""	""	"Atypical Best Vitelliform Dystrophy"	""	""
"0000297406"	"04214"	"00404842"	"00000"	"Familial, autosomal recessive"	"14y"	"initial exam: best-corrected visual acuity right/left eye: 20/100 / 20/ 50; accommodative esotropia and bilateral macular lesions with apparent multifocal sub-retinal pigment epithelium (RPE) lesions and subretinal fibrosis; sub-RPE lesions were autofluorescent; optical coherence tomography (OCT): localized serous retinal detachments in both eyes with fibrotic mounds and irregular, elongated photoreceptor outer segments; electrooculography Arden ratios ~1.1 in both eyes. 23y: best-corrected visual acuity right/left eye: improved, 20/60 / 20/25; appearance of fundus unchanged"	"7y"	"12y"	"decrease in vision"	"no loss of channel activity"	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297407"	"04214"	"00404843"	"00000"	"Familial, autosomal dominant"	"39y"	"33y: best-corrected visual acuity (BCVA) right/left eye: 20/100 / 20/250 in the left eye; ophthalmoscopy: right eye showed a sharply circumscribed vitelliform lesion in the center of the macula characteristic of pattern dystrophy primarily involving the retinal pigment epithelium, left eye showed a scar from choroidal neovascularization (CNV) that had developed 5 years before this initial decline in vision in the right eye; fluorescein angiography (FA) of the right eye in the early phase frames: hyperfluorescence corresponding to the extent of the vitelliform material with staining of this material but no definitive leakage in the late phase frames; visual acuity right eye gradually improved from 20/100 to 20/50 (5m) and 20/25 (9m later) with decreasing visualization of the vitelliform material on fundus photographs, FA: stable or slightly decreased staining of the material; optical coherence tomography: hyperreflective material in the subretinal space (2m) replaced by a hyporeflective area (5m and 9m of follow-up. 16m after reaccumulation of the visible vitelliform material, which became denser over the following 15 months. Optical coherence tomography: accumulation of the subretinal material of increased reflectivity on vertical cross sections; visual acuity remained stable at 20/25 until 31m after initial visit; 9 days after that urgent evaluation of an enlarged scotoma in the right eye for the last 2 days; visual acuity declined to 20/100 within the inferior margin of the lesion, fundus photography: less dense vitelliform material, FA: smaller area of hypofluorescence; FA: no fluorescein leakage from CNV on late phase frames; optical coherence tomography continued to show a large amount of the subretinal material of increased reflectivity; next 8 months, BCVA gradually improved to 20/25, correlating with decreasing amounts of the vitelliform material on red-free fundus photography and FA; optical coherence tomography: hyperreflective material in the subretinal space replaced by a hyporeflective area as the vitelliform material became less apparent on fundus photography. Next 18 months, visual acuity was stable, during which time the dense vitelliform material again appeared, disappeared, and reappeared within the inferior margin of the lesion on fundus photographs and late phase frames of FA; OCT changes reflected FA changes. 4m later (5y1m after initial visit) BCVA 20/125, FA: dense vitelliform material in the inferior half of the circular lesion; no leakage from CNV; OCT: large amount of the subretinal material of increased reflectivity, after 2m BCVA 20/63, 5m- 20/50, correlating with decreasing amounts of the vitelliform material in his right macula; 66-month follow-up visit: new subretinal hemorrhage was noted on a fundus photograph in the right eye; subretinal hemorrhage associated with CNV right eye,FA: distinctly abnormal vessels from CNV within the center of the macular lesion apparent in the early phase frame, corresponding with a hyperreflective area on the OCT.  intravitreous injection of 0.5 mg ranibizumab in the right eye. 3m later stable BCVA, fundus photographs: resolution of subretinal hemorrhages, FA: staining of his CNV lesion in the early phase frames, with no new leakage in late phase frames to warrant"	""	">20y"	""	"anna_tracewska"	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297408"	"04214"	"00404844"	"00000"	"Familial, autosomal dominant"	"46y"	"best-corrected visual acuity (LogMAR) right/left eye: hand motion/ hand motion, refraction: S + 6.75 = C + 0.50 @ 90 deg / S + 4.50 = C + 1.50 @10 deg, fundoscopy: both eyes: attenuation of the retinal arteries, RPE choriocapillaris atrophic changes in the macula, areas of coarse hyperpigmentation and small dot-shaped yellowish depositions in midperipheral and peripheral retina, mid/ peripheral ERMs and vitreous strands; in right eye: nasally to the optic disc 2 areas of subretinal yellowish deposits, fundus autofluorescence: both eyes: patchy hypoautofluorescence in the posterior pole due to retinal pigment epithelium atrophy; a diffuse oval-shaped zone of hyperautofluorescence in the area of the retinal vascular arcades; in the midperipheral and peripheral retina extensive areas of hypoautofluorescence; corresponded to confluent atrophic zones with hyperpigmentation on ophthalmoscopy; in right eye: 2 hyperautofluorescent areas nasally to the optic disc corresponded to the yellowish subretinal deposits on fundoscopy,spectral domain optical coherence tomography:both eyes: hyperreflectivity of the vitreoretinal interface due to ERM; markedly reduced CRT; nondetectable ELM and ellipsoid layer,electroretinogram and electro-oculogram:ERG: nonrecordable waveform for all cone and rod responses; EOG: absent light rise"	""	"17y"	"macular dystrophy"	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	"macular dystrophy"	""
"0000297409"	"04214"	"00404845"	"00000"	"Familial, autosomal dominant"	"21y"	"best-corrected visual acuity (LogMAR) right/left eye: 0.4/0.4 ; refraction: S +1.00 = C +2.25 @ 90 deg; S + 1.75 = C + 2.00 @ 90 deg, fundoscopy: both eyes: cystoid changes in the macula with mild pigmentary irregularities, atrophic appearing round zones in the midperipheral retina, fundus autofluorescence: both eyes: hyperautofluorescence in the macula, corresponding to cystoid fluid collections; diffuse oval-shaped zone of hyperautofluorescence in the area of the retinal vascular arcades in both eyes,spectral domain optical coherence tomography:right eye: highly reflective vitreous bands superiorly and superotemporally to the macula; right eye: hyporeflective cystoid lesions in the macula; discontinuous increased reflectivity of the vitreoretinal interface in left eye,electroretinogram and electro-oculogram:ERG: reduced and delayed waveform for all cone and rod responses; EOG: reduced light rise"	""	"14y"	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297410"	"04214"	"00404846"	"00000"	"Familial, autosomal dominant"	"23y"	"best-corrected visual acuity (LogMAR) right/left eye: 1.0 / 1.0; refraction: S + 5.00 = C + 1.50 @ 110 deg / S + 1.75 = C + 2.00 @ 90 deg, fundoscopy: both eyes: macular cystoid intraretinal fluid collections with mild pigmentary changes; right eye: subretinal yellowish deposits in the inferior part of the macula, outside the temporal vascular arcade, interface due to a thin adherent ERM was visible in both eyes, fundus autofluorescence: both eyes: petaloid hyperautofluorescence at the posterior pole corresponding to the macular cystoid lesions, a diffuse oval-shaped zone of hyperautofluorescence in the area of the retinal vascular arcades; right eye: bright focal hyperfluorescent lesions located inferiorly in the macula, corresponding to subretinal yellowish deposits,spectral domain optical coherence tomography:both eyes: intraretinal cystoid fluid collections, subretinal fluid accumulation below the outer retina, some ELM and ellipsoid irregularity and disruption; subretinal hyperreflective deposits corresponding to the yellowish deposits visible on fundoscopy, discontinuous increased reflectivity of the vitreoretinal interface,electroretinogram and electro-oculogram:ERG: reduced and delayed waveform for all cone and rod responses; EOG: absent light rise"	""	"16y"	"macular dystrophy"	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	"macular dystrophy"	""
"0000297411"	"04214"	"00404847"	"00000"	"Familial, autosomal recessive"	"66y"	"decimal visual acuity (spherical equivalent) right/left eye:0.05 (+3.00)/0.05 (+2.75), electroretinogram: normal, electrooculography Arden ratios: 1.0"	"25y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297412"	"04214"	"00404848"	"00000"	"Familial, autosomal recessive"	"52y"	"decimal visual acuity (spherical equivalent) right/left eye:0.05 (+3.00)/0.02 (+3.25), electroretinogram: normal, electrooculography Arden ratios: 1.1"	"20y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297413"	"04214"	"00404849"	"00000"	"Familial, autosomal recessive"	"68y"	"59y best-corrected visual acuity (LogMAR) right/left eye: 0.4 (with a mild astigmatism) / 0.03 on the left eye with -3.00 D myopia; pseudophakia both eyes 41y; ophthalmoscopy: a defined circumferential peripheral retinal hyperpigmentation, punctate retinal opacities and choroidal atrophy (characteristic of ADVIRC); central to this, few pigmentations were noted, posterior pole -mild pigment irregularities, cystoid macular edema confirmed by fluorescein angiography (FA); leakage of the vessels in the mid-periphery; Fundus autofluorescence (FAF) and near-infrared autofluorescence (NIA): no marked abnormalities at the posterior pole although marked vitreous opacities precluded the evaluation of fine details; a line of increased FAF and NIA intensity marked the midperipheral border of peripheral retinal degeneration much more central than the ophthalmoscopically visible equatorial demarcation line; full-field ERG: reduced to about 35% of age-similar normal median values at dark adaptation and 45% for light-adapted recordings; visual fields: concentric narrowing especially nasally to 35 from the center and to about 60 in all other directions. Topical treatment with flurbiprofen and dorzolamide: BCVA improved within 3 months to 0.7 / 0.4 on the left eye, later to 0.8 / 0.5 and remained stable; FA: regression of the cystoid edema. Interruption of treatment after 16 months - bilateral visual acuity loss, recovered after re-initiation of treatment with dorzolamide and ketorolac-trometamol; (spectral domain) optical coherence tomography: no edema on the right eye and small cystoid changes on the left eye, severe degeneration peripheral to the demarcation line remained unchanged during the observation period; central area of retinal degeneration slowly progressed centrally on both eyes, with a marked increase and central involvement 64y. FAF and NIA: central progression of the border of preserved photoreceptors in the mid-periphery and the posterior pole; SD-OCT: sharp transition between severe retinal destruction and preservation of the retinal layers; marked alterations and remodeling of retinal layers at the posterior pole occurred on the left eye between age 63 and 68 y. BCVA: 0.5/light perception - no known external reason for progression"	"10y"	"10y"	"night blindness"	""	""	""	""	""	"autosomal dominant vitreoretinochoroidopathy (ADVIRC)"	"retinitis pigmentosa"	""
"0000297414"	"04214"	"00404850"	"00000"	"Familial, autosomal recessive"	"40y"	"best-corrected visual acuity (LogMAR): 1.0 both eyes with mild hyperopia and astigmatism; anterior segments: normal, lens: clear; ophthalmoscopy did not reveal marked abnormalities except for some pigment irregularities in the far periphery, no demarcation line between peripheral degenerations and more central retina; fundus autofluorescence and near-infrared autofluorescence: normal at the posterior pole; optical coherence tomography: normal; visual field: absolute scotoma in the superior field beginning at 30 from the center on both eyes and additional nasal scotoma beyond 35 from the center; full-field ERG: markedly reduced amplitudes, dark adaptation amplitudes reduced to about 25% of normal age-similar median values, light-adapted responses reduced amplitudes to about 45%; normal implicit; multifocal ERG amplitudes and implicit times: normal range on both eyes except for reduced amplitudes in the outer ring"	"40y"	""	"difficulties with driving a car at night and glare"	""	""	""	""	""	"autosomal dominant vitreoretinochoroidopathy (ADVIRC)"	""	""
"0000297415"	"04214"	"00404851"	"00000"	"Familial, autosomal recessive"	"15y"	"12y: best-corrected visual acuity (LogMAR) right/left eye: 0.63 / 0.5 with mild myopia and astigmatism; 3y later with continuous correction of refractive error BCVA improved to 0.8 on the left eye; anterior segments: normal, lens: clear; ophthalmoscopy: peripheral demarcation line anterior to the equator with retinal pigmentations in the far periphery; fundus autofluorescence and near-infrared autofluorescence: normal at the posterior pole; spectral domain optical coherence tomography: few epiretinal folds without epiretinal fibrosis on the right eye not affecting the foveal structure; retina unchanged after 3y follow-up"	"12y"	"12y"	"reading problems"	""	""	""	""	""	"autosomal dominant vitreoretinochoroidopathy (ADVIRC)"	""	""
"0000297430"	"04214"	"00404866"	"00000"	"Familial, autosomal recessive"	"38y"	"best corrected visual acuity right/left eye: 20/50/20/32, electrooculogram Arden ratios right/left eye: 1.35/1.4, electroretinogram: normal"	""	""	""	""	""	""	""	""	"atypical Best vitelliform macular dystrophy"	""	""
"0000297431"	"04214"	"00404867"	"00000"	"Familial, autosomal recessive"	"40y"	"best corrected visual acuity right/left eye: 20/32/20/50, electrooculogram Arden ratios right/left eye: 1.41/1.43, electroretinogram: normal"	""	""	""	""	""	""	""	""	"atypical Best vitelliform macular dystrophy"	""	""
"0000297432"	"04214"	"00404868"	"00000"	"Familial, autosomal recessive"	"71y"	"best corrected visual acuity right/left eye: 20/200/20/60, electrooculogram Arden ratios right/left eye: 1.07/1.18, electroretinogram: normal morphology and latency time in both eyes, but low amplitude"	""	""	""	""	""	""	""	""	"atypical Best vitelliform macular dystrophy"	""	""
"0000297433"	"04214"	"00404869"	"00000"	"Familial, autosomal recessive"	"73y"	"best corrected visual acuity right/left eye: 20/200/20/200, electrooculogram Arden ratios right/left eye: 1.1/1.2, electroretinogram: normal morphology and latency time in both eyes, but low amplitude"	""	""	""	""	""	""	""	""	"atypical Best vitelliform macular dystrophy"	""	""
"0000297434"	"04214"	"00404870"	"00000"	"Familial, autosomal recessive"	"79y"	"best corrected visual acuity right/left eye: 20/800/20/200, electrooculogram Arden ratios right/left eye: 1.02/1.24, electroretinogram: normal morphology and latency time in both eyes, but low amplitude"	""	""	""	""	""	""	""	""	"atypical Best vitelliform macular dystrophy"	""	""
"0000297448"	"04214"	"00404889"	"00000"	"Familial, autosomal recessive"	"40y"	"at presentation, 7y: best-corrected visual acuity (BCVA) right/left eye: 20/50/ 20/100; anterior fleck opacities in the lenses and diffuse pigmented cells in the anterior vitreous; ophthalmoscopy: peripheral band of chorioretinal hyperpigmentation between the equator and the ora serrata; tiny, scattered, white, punctate opacities within the pigmentation, narrowing of the arterioles and sheathing along the inferotemporal arcade; superior to the right disc - a patch of retinal neovascularization; macula: large cystoid spaces that filled with fluorescein in late phases of the angiogram; left eye - similar peripheral fundus findings and vascular changes, but no neovascularization; left optic disc: mild edema, macula: smaller perifoveal and foveal cysts compared to the right. Initial visit- the neovascular frond superotemporal to the disc in the right eye treated with laser photocoagulation; oral prednisone 60 mg daily, and the cystoid edema improved bilaterall; after 2m BCVA vision improvement 20/30 / 20/50; cystoid edema recurred off steroids BCVA left 20/100 again, triamcinolone 20 mg injection into the subtenon\'s space in the left eye - improved to 20/50. Recurrent cystoid macular edema bilaterally with a fluctuating course. 32y: BCVA 20/200 / 20/400; cataract extractionleft eye, 35y right eye + intravitreal triamcinolone 4 mg - BCVA unchanged. 40y: BCVA 20/120 / 20/250, bilateral iris atrophy and pseudophakodonesis; advancement of the peripheral pigmentation and very attenuated arterioles bilaterally, no retinal neovascularization; right eye foveal hypopigmentation; fluorescein angiogram (FA): right - diffuse leakage at the macula and disc in late frames; spectral domain optical coherence tomography: rare juxtafoveal intraretinal cysts; foveal atrophy with loss of the foveal ellipsoid segments correlating with areas of patchy hypoautofluorescence in the central macula; left eye: foveal hypopigmentation FA left: early transmission defects in the foveal region and late leakage of fluorescein from the disc and the perimacular region; SD-OCT: left eye - persistence of central cystoid spaces overlying an area of foveal retinal pigment epithelial atrophy; fundus autofluorescence: central hypoautofluorescence with temporal areas of mild hyperautofluorescence"	"7y"	""	""	""	""	""	""	""	"autosomal dominant vitreoretinochoroidopathy (ADVIRC)"	""	""
"0000297449"	"04214"	"00404890"	"00000"	"Familial, autosomal dominant"	"32y"	"best corrected visual acuity: 20/16 both eyes, clinical findings: normal both eyes, electrooculography Arden ratio: reduced both eyes"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297450"	"04214"	"00404891"	"00000"	"Familial, autosomal dominant"	"10y"	"best corrected visual acuity: 20/50, 20/25 , clinical findings: vitelliform lesion both eyes, electrooculography Arden ratio: reduced both eyes"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297451"	"04214"	"00404892"	"00000"	"Familial, autosomal dominant"	"42y"	"best corrected visual acuity: 20/16 both eyes, clinical findings: normal both eyes, electrooculography Arden ratio: reduced both eyes"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297452"	"04214"	"00404893"	"00000"	"Familial, autosomal dominant"	"7y"	"best corrected visual acuity: 20/25 both eyes, clinical findings: vitelliruptive right eye (pseudohypopyon in follow-up), pseudohypopyon OS, electrooculography Arden ratio: n."	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297453"	"04214"	"00404894"	"00000"	"Familial, autosomal dominant"	"45y"	"best corrected visual acuity: 20/20 both eyes, clinical findings: normal both eyes, electrooculography Arden ratio: n.a."	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297454"	"04214"	"00404895"	"00000"	"Familial, autosomal dominant"	"22y"	"best corrected visual acuity: 20/50, 20/20 , clinical findings: vitelliruptive both eyes, electrooculography Arden ratio: reduced both eyes"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297455"	"04214"	"00404896"	"00000"	"Familial, autosomal dominant"	"24y"	"best corrected visual acuity: 20/20 both eyes, clinical findings: vitelliruptive both eyes, electrooculography Arden ratio: reduced both eyes"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297456"	"04214"	"00404897"	"00000"	"Familial, autosomal dominant"	"58y"	"best corrected visual acuity: 20/200, 20/100 , clinical findings: vitelliruptive right eye, vitelliform left eye, angle closure glaucoma both eyes, electrooculography Arden ratio: reduced both eyes"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297457"	"04214"	"00404898"	"00000"	"Familial, autosomal dominant"	"39y"	"best corrected visual acuity: 20/25, 20/60 , clinical findings: vitelliruptive both eyes, focal choroidal excavation right eye, electrooculography Arden ratio: reduced both eyes"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297458"	"04214"	"00404899"	"00000"	"Familial, autosomal recessive"	"25y"	"best-corrected visual acuity (BCVA) right/left eye: 0.9/0.3, refraction: S + 0.5 C-1.25 at 180 /S + 0.5 C-2.0 at 175; axial length: 23.71/23.85 mm; intraocular pressure and anterior ocular segments: normal, fundus: cystoid macular lesion, multiple yellowish deposits throughout the posterior pole of both eyes, vitelliform lesions not observed, FAF imaging showed multiple hyper-autofluorescent spots in the peripheral retina of both eyes, and the site of the spots corresponded with the yellowish deposits observed by ophthalmoscopy; fundus autofluorescence: hypoautofluorescent lesion in the maculae of both eyes; fluorescein angiography: widespread patchy hyper-fluorescence; spectral-domain optical coherence tomography: cystoid changes in the macula and shallow serous retinal detachments in both eyes, thickening and hyper-reflectivity at the areas corresponding to ellipsoid and interdigitation zones of the photoreceptors amplitudes of both the cone and rod full-field electroretinograms were reduced; amplitudes of the multifocal electroretinograms:r educed in the central and peripheral sectors of both eyes; electro-oculography Arden: 1.1 in both eyes with a dark trough 15 min after beginning the measurements and a light peak 15 min from the beginning of the light phase"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000297497"	"04214"	"00404939"	"00000"	"Familial, autosomal recessive"	"27y"	"best-corrected visual acuity right, left eye: 20/20, 20/25, spherical equivalent (D): +0.5, 0, electro-oculogram Arden ratio right/left eye: 1.1/1.1"	"22y"	""	"Floaters"	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000297498"	"04214"	"00404940"	"00000"	"Familial, autosomal recessive"	"23y"	"best-corrected visual acuity right, left eye: 20/40, 20/32, spherical equivalent (D): +2.0, +1.5, electro-oculogram Arden ratio right/left eye: 1.0/1.0"	"19y"	""	"Night blindness, blurred vision"	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000297499"	"04214"	"00404941"	"00000"	"Familial, autosomal recessive"	"35y"	"best-corrected visual acuity right, left eye: 20/100, 20/200, spherical equivalent (D): -0.5, -2.5, electro-oculogram Arden ratio right/left eye: 1.0/1.0"	"12y"	""	"Blurred vision"	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000297500"	"04214"	"00404942"	"00000"	"Familial, autosomal recessive"	"45y"	"best-corrected visual acuity right, left eye: 20/80, 20/50, spherical equivalent (D): +1.0, +1.0, electro-oculogram Arden ratio right/left eye: N/A"	"35y"	""	"Blurred vision"	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000297501"	"04214"	"00404943"	"00000"	"Familial, autosomal recessive"	"42y"	"best-corrected visual acuity right, left eye: 20/32, 20/25, spherical equivalent (D): 0, -0.25, electro-oculogram Arden ratio right/left eye: N/A"	"41y"	""	"Metamorphopsia, floaters"	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000297502"	"04214"	"00404944"	"00000"	"Familial, autosomal recessive"	"28y"	"best-corrected visual acuity right, left eye: 20/25, 20/25, spherical equivalent (D): 0, -0.75, electro-oculogram Arden ratio right/left eye: 1.1/1.1"	"20y"	""	"Photophobia, blurred vision"	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000297503"	"04214"	"00404945"	"00000"	"Familial, autosomal recessive"	"14y"	"best-corrected visual acuity right, left eye: 20/20, 20/20, spherical equivalent (D): +1.0, +0.5, electro-oculogram Arden ratio right/left eye: 1.2/1.2"	"14y"	""	"Metamorphopsia"	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000297504"	"04214"	"00404946"	"00000"	"Familial, autosomal recessive"	"38y"	"best-corrected visual acuity right, left eye: 20/125, 20/100, spherical equivalent (D): -0.75, 0, electro-oculogram Arden ratio right/left eye: 1.0/1.1"	"12y"	""	"Blurred vision"	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000297505"	"04214"	"00404947"	"00000"	"Familial, autosomal recessive"	"23y"	"best-corrected visual acuity right, left eye: 20/20, 20/20, spherical equivalent (D): 0, +0.25, electro-oculogram Arden ratio right/left eye: 1.0/1.0"	"17y"	""	"No complaint"	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000297506"	"04214"	"00404948"	"00000"	"Familial, autosomal dominant"	"53y"	"analyses right, left eye: best corrected visual acuity: 0.1, 0.1, Arden ratio on electrooculography: 1.56,1.76, stage: atrophic, atrophic"	"7y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297507"	"04214"	"00404949"	"00000"	"Familial, autosomal dominant"	"16y"	"analyses right, left eye: best corrected visual acuity: 0.6, 0.2, Arden ratio on electrooculography: 0.96,1.18, stage: atrophic, atrophic"	"10y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297508"	"04214"	"00404950"	"00000"	"Familial, autosomal dominant"	"20y"	"analyses right, left eye: best corrected visual acuity: 1.0, counting ?ngers (amblyopia), Arden ratio on electrooculography: 0,911, stage: carrier, carrier (min. changes)"	"10y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297509"	"04214"	"00404951"	"00000"	"Familial, autosomal dominant"	"56y"	"analyses right, left eye: best corrected visual acuity: 0.05, 0.05, Arden ratio on electrooculography: 1.34,1.17, stage: atrophic, atrophic"	"13y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297510"	"04214"	"00404952"	"00000"	"Familial, autosomal dominant"	"53y"	"analyses right, left eye: best corrected visual acuity: 1.0, 1.0, Arden ratio on electrooculography: 1.21,1.25, stage: carrier, vitelliform (extramacular)"	""	""	"asymptomatic"	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297511"	"04214"	"00404953"	"00000"	"Familial, autosomal dominant"	"37y"	"analyses right, left eye: best corrected visual acuity: 0.7, 0.9, Arden ratio on electrooculography: 1.08,1.12, stage: atrophic, vitelliruptive/scrambled  egg"	"10y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297512"	"04214"	"00404954"	"00000"	"Familial, autosomal dominant"	"41y"	"analyses right, left eye: best corrected visual acuity: 0.8,  0.8, Arden ratio on electrooculography: 1.02,1.1, stage: pseudohypopyon, vitelliruptive/scrambled  egg  +   periph."	"35y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297513"	"04214"	"00404955"	"00000"	"Familial, autosomal dominant"	"28y"	"analyses right, left eye: best corrected visual acuity: no data, Arden ratio on electrooculography: no data, stage: atrophic, atrophic"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297514"	"04214"	"00404956"	"00000"	"Familial, autosomal dominant"	"27y"	"analyses right, left eye: best corrected visual acuity: 0.4, 0.2, Arden ratio on electrooculography: 0.97,1.35, stage: vitelliruptive/scrambled  egg, atrophic   +  periph."	"5y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297515"	"04214"	"00404957"	"00000"	"Familial, autosomal dominant"	"23y"	"analyses right, left eye: best corrected visual acuity: 1.0, 0.7, Arden ratio on electrooculography: 1.18,0.77, stage: vitelliruptive/scrambled  egg, atrophic   +  periph."	"8y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297516"	"04214"	"00404958"	"00000"	"Familial, autosomal dominant"	"6y"	"analyses right, left eye: best corrected visual acuity: 0.4, 0.4, Arden ratio on electrooculography: 1.01,0.89, stage: vitelliform, vitelliform"	"6y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297517"	"04214"	"00404959"	"00000"	"Familial, autosomal dominant"	"67y"	"analyses right, left eye: best corrected visual acuity: hand motion, counting ?ngers, Arden ratio on electrooculography: 1.22,1.15, stage: atrophic, atrophic"	"40y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297518"	"04214"	"00404960"	"00000"	"Familial, autosomal dominant"	"37y"	"analyses right, left eye: best corrected visual acuity: no data, Arden ratio on electrooculography: no data, stage: atrophic, atrophic"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297519"	"04214"	"00404961"	"00000"	"Familial, autosomal dominant"	"48y"	"analyses right, left eye: best corrected visual acuity: 1.0, 1.0, Arden ratio on electrooculography: 1.2,1.04, stage: carrier, carrier"	""	""	"asymptomatic"	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297520"	"04214"	"00404962"	"00000"	"Familial, autosomal dominant"	"18y"	"analyses right, left eye: best corrected visual acuity: 1.0, 1.0, Arden ratio on electrooculography: 1.19,1.29, stage: carrier, carrier (min. changes)"	""	""	"asymptomatic"	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297521"	"04214"	"00404963"	"00000"	"Familial, autosomal dominant"	"25y"	"analyses right, left eye: best corrected visual acuity: 1.0, 1.0, Arden ratio on electrooculography: 1.1,1.14, stage: carrier, carrier"	""	""	"asymptomatic"	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297522"	"04214"	"00404964"	"00000"	"Familial, autosomal dominant"	"4y"	"analyses right, left eye: best corrected visual acuity: 0.3, 0.2, Arden ratio on electrooculography: no data, stage: vitelliform, vitelliform"	"4y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297523"	"04214"	"00404965"	"00000"	"Familial, autosomal dominant"	"54y"	"analyses right, left eye: best corrected visual acuity: 0.1, 0.1, Arden ratio on electrooculography: 1.34,1.32, stage: pseudohypopyon (multifocal), atrophic (multifocal)"	"39y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297524"	"04214"	"00404966"	"00000"	"Familial, autosomal dominant"	"20y"	"analyses right, left eye: best corrected visual acuity: 0.8, 0.1, Arden ratio on electrooculography: 1.08,1.15, stage: atrophic, atrophic"	"7y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297525"	"04214"	"00404967"	"00000"	"Familial, autosomal dominant"	"38y"	"analyses right, left eye: best corrected visual acuity: 0.8, 0.1, Arden ratio on electrooculography: 1.3,1.1, stage: atrophic, atrophic"	"11y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297548"	"04214"	"00404990"	"00000"	"Familial, autosomal dominant"	"12y"	"best corrected visual acuity affected eye: 0.06, fundus: creamy elevated lesion in central macular area, electrooculography light rise: absent both eyes"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297549"	"04214"	"00404991"	"00000"	"Familial, autosomal dominant"	"38y"	"best corrected visual acuity affected eye: 0, fundus: faint yellowish spot in the right fovea, electrooculography light rise: absent both eyes"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297550"	"04214"	"00404992"	"00000"	"Familial, autosomal dominant"	"16y"	"best corrected visual acuity affected eye: -0.1, fundus: macular atrophy with some yellow deposits at the level of the retinal pigment epithelium, electrooculography light rise: reduced both eyes"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297551"	"04214"	"00404993"	"00000"	"Familial, autosomal dominant"	"17y"	"best corrected visual acuity affected eye: 0.06, fundus: vitelliform lesion, electrooculography light rise: bilateral reduction"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297552"	"04214"	"00404994"	"00000"	"Familial, autosomal dominant"	"27y"	"best corrected visual acuity affected eye: hand motion, fundus: atrophic lesion, electrooculography light rise: technically unsatisfactory"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297553"	"04214"	"00404995"	"00000"	"Familial, autosomal recessive"	"6y"	"yellowish subretinal lesions in the macula and around the vessel arcade without signs of vasculitis or abnormal vessels in the angiography; spectral domain optical coherence tomography: subretinal hyperreflective masses"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297556"	"04214"	"00404998"	"00000"	"Familial, autosomal dominant"	"27y"	"best-corrected visual acuity: 20/12 both eyes; intraocular pressure right/;eft eye: 22 / 23 mmHg; visual fields and anterior segments: normal; fundus autofluorescence: discrete but clearly visible juxtafoveal regions of increased autofluorescence signals in both eyes; dilated fundus: discrete hypopigmented juxtafoveal changes; spectral-domain optical coherence tomography and microperimetric assessment of macular sensitivity and fixation: normal; electrooculography Arden 1.42 / 1.96"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297557"	"04214"	"00404999"	"00000"	"Familial, autosomal recessive"	""	""	"13y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297558"	"04214"	"00405000"	"00000"	"Familial, autosomal recessive"	""	""	"29y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297559"	"04214"	"00405001"	"00000"	"Familial, autosomal recessive"	""	""	"21y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297560"	"04214"	"00405002"	"00000"	"Familial, autosomal recessive"	""	""	"19y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297561"	"04214"	"00405003"	"00000"	"Familial, autosomal recessive"	""	""	"38y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297562"	"04214"	"00405004"	"00000"	"Familial, autosomal recessive"	""	""	"25y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297563"	"04214"	"00405005"	"00000"	"Familial, autosomal recessive"	""	""	"35y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297564"	"04214"	"00405006"	"00000"	"Familial, autosomal recessive"	""	""	"33y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297568"	"04214"	"00405010"	"00000"	"Familial, autosomal dominant"	"18y"	"asymptomatic; best corrected visual acuity right, left eye: 20/20, 20/20; no hyperopic refractive error (emmetropic), electrooculography light rise (%) (right/left eye):140/135, working diagnosis: none; seen with mother; PRPH2 normal"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297569"	"04214"	"00405011"	"00000"	"Familial, autosomal dominant"	"61y"	"best corrected visual acuity right, left eye: 20/300, 20/120; no hyperopic refractive error (emmetropic), electrooculography light rise (%) (right/left eye):Technically poor, working diagnosis: autosomal dominant macular dystrophy; PRPH2 normal, bilateral choroidal neovascular membrane"	"42y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	"autosomal dominant macular dystrophy;"	""
"0000297570"	"04214"	"00405012"	"00000"	"Familial, autosomal dominant"	"55y"	"asymptomatic; best corrected visual acuity right, left eye: 20/30, 20/60; hyperopic refractive error, electrooculography light rise (%) (right/left eye):135/120, working diagnosis: adult-onset vitelliform macular dystrophy; PRPH2 normal"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	"adult-onset vitelliform macular dystrophy;"	""
"0000297571"	"04214"	"00405013"	"00000"	"Familial, autosomal dominant"	"85y"	"amblyopia left eye; best corrected visual acuity right, left eye: 20/80, 20/80; hyperopic refractive error, electrooculography light rise (%) (right/left eye): not performed, working diagnosis: seen as a result of son—previous dx AMD; PRPH2 normal, possible age-related macular degenerati"	"72y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	"age-related macular degeneration"	""
"0000297572"	"04214"	"00405014"	"00000"	"Familial, autosomal dominant"	""	"best corrected visual acuity right, left eye: 20/30, 20/20; hyperopic refractive error, electrooculography light rise (%) (right/left eye):125/120, working diagnosis: Best disease"	"41y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	"Best disease"	""
"0000297573"	"04214"	"00405015"	"00000"	"Familial, autosomal dominant"	">40y"	"best corrected visual acuity right, left eye: 20/17, 20/30; no hyperopic refractive error (myopic), electrooculography light rise (%) (right/left eye):125/125, working diagnosis: Best disease"	"63y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	"Best disease"	""
"0000297574"	"04214"	"00405016"	"00000"	"Familial, autosomal dominant"	""	"best corrected visual acuity right, left eye: 20/33, 20/33; no hyperopic refractive error (emmetropic), electrooculography light rise (%) (right/left eye):170/175, working diagnosis: adult-onset vitelliform macular dystrophy; PRPH2 normal"	"32y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	"adult-onset vitelliform macular dystrophy;"	""
"0000297575"	"04214"	"00405017"	"00000"	"Familial, autosomal dominant"	""	"best corrected visual acuity right, left eye: 20/60, 20/60; no hyperopic refractive error (emmetropic), electrooculography light rise (%) (right/left eye):Technically poor, working diagnosis: adult-onset vitelliform macular dystrophy; PRPH2 normal"	"62y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	"adult-onset vitelliform macular dystrophy;"	""
"0000297576"	"04214"	"00405018"	"00000"	"Familial, autosomal dominant"	""	"best corrected visual acuity right, left eye: 20/200, 20/200; hyperopic refractive error, electrooculography light rise (%) (right/left eye):110/110, working diagnosis: Best disease"	"19y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	"Best disease"	""
"0000297577"	"04214"	"00405019"	"00000"	"Familial, autosomal dominant"	""	"best corrected visual acuity right, left eye: 20/80, 20/80; hyperopic refractive error, electrooculography light rise (%) (right/left eye):np, working diagnosis: Best disease"	"33y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	"Best disease"	""
"0000297578"	"04214"	"00405020"	"00000"	"Familial, autosomal dominant"	""	"best corrected visual acuity right, left eye: 20/33, 20/120; hyperopic refractive error, electrooculography light rise (%) (right/left eye):np, working diagnosis: Best disease"	"9y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	"Best disease"	""
"0000297579"	"04214"	"00405021"	"00000"	"Familial, autosomal dominant"	"49y"	"best corrected visual acuity right, left eye: 20/40, 20/120; hyperopic refractive error, electrooculography light rise (%) (right/left eye):np, working diagnosis: Best disease"	"10y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	"Best disease"	""
"0000297580"	"04214"	"00405022"	"00000"	"Familial, autosomal dominant"	"33y"	"best corrected visual acuity right, left eye: 20/20, 20/30; hyperopic refractive error, electrooculography light rise (%) (right/left eye):125/120, working diagnosis: Best disease"	"18y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	"Best disease"	""
"0000297581"	"04214"	"00405023"	"00000"	"Familial, autosomal dominant"	""	"best corrected visual acuity right, left eye: 20/40, 20/40; hyperopic refractive error, electrooculography light rise (%) (right/left eye):120/115, working diagnosis: Best disease"	"22y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	"Best disease"	""
"0000297582"	"04214"	"00405024"	"00000"	"Familial, autosomal dominant"	"38y"	"best corrected visual acuity right, left eye: 20/60, 20/60; hyperopic refractive error, electrooculography light rise (%) (right/left eye):120/105, working diagnosis: Best disease"	"12y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	"Best disease"	""
"0000297583"	"04214"	"00405025"	"00000"	"Familial, autosomal recessive"	""	"choroidal neovascular membrane (CNVM): right eye, age at CNVM discovery: 12; best corrected visual acuity pre-CNVM: 1; presentation best corrected visual acuity: 0.4; best corrected visual acuity last visit: 0.95, follow-up, years: 5"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000297584"	"04214"	"00405026"	"00000"	"Familial, autosomal dominant"	""	"choroidal neovascular membrane (CNVM): right eye, age at CNVM discovery: 9; best corrected visual acuity pre-CNVM: 0.43; presentation best corrected visual acuity: 0.22; best corrected visual acuity last visit: 0.5, follow-up, years: 1,5"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297585"	"04214"	"00405027"	"00000"	"Familial, autosomal dominant"	""	"choroidal neovascular membrane (CNVM): right eye, age at CNVM discovery: 72; best corrected visual acuity pre-CNVM: 0,14; presentation best corrected visual acuity: 0.05; best corrected visual acuity last visit: 0.05, follow-up, years: 6"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297586"	"04214"	"00405028"	"00000"	"Familial, autosomal dominant"	""	"choroidal neovascular membrane (CNVM): left eye, age at CNVM discovery: 20; best corrected visual acuity pre-CNVM: unknown; presentation best corrected visual acuity: 0.34; best corrected visual acuity last visit: 0.8, follow-up, years: 1,5"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297587"	"04214"	"00405029"	"00000"	"Familial, autosomal dominant"	""	"choroidal neovascular membrane (CNVM): right eye, age at CNVM discovery: 24; best corrected visual acuity pre-CNVM: 1; presentation best corrected visual acuity: 0.66; best corrected visual acuity last visit: 1 (stable after 4th and 8th treatment), 0.66 at final follow-up visit, follow-up, years: 4 (6)"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297588"	"04214"	"00405030"	"00000"	"Familial, autosomal dominant"	""	"choroidal neovascular membrane (CNVM): right eye, age at CNVM discovery: 28; best corrected visual acuity pre-CNVM: 1; presentation best corrected visual acuity: 0.25; best corrected visual acuity last visit: 1, follow-up, years: 2; CNVM: left eye, age at CNVM discovery: 25; best corrected visual acuity pre-CNVM: 1; presentation best corrected visual acuity: 0.1; best corrected visual acuity last visit: 0.66, follow-up, years: 5"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297589"	"04214"	"00405031"	"00000"	"Familial, autosomal recessive"	""	"best corrected visual acuity: counting fingers at 4 feet both eyes, macular optical coherence tomography: subretinal fluid with loss of outer photoreceptor layers and epiretinal membrane"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297590"	"04214"	"00405032"	"00000"	"Familial, autosomal recessive"	""	"best corrected visual acuity: 20/20 both eyes, asymptomatic, macular optical coherence tomography right eye: epiretinal membrane and contour irregularity,  left eye  normal segmentation and contour"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297591"	"04214"	"00405033"	"00000"	"Familial, autosomal recessive"	""	"best corrected visual acuity: 20/60 right eye, 20/70 left eye, macular optical coherence tomography: subretinal fluid"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297592"	"04214"	"00405034"	"00000"	"Familial, autosomal recessive"	""	"best corrected visual acuity: 20/25 right eye, 20/25 left eye, macular optical coherence tomography: subretinal fluid and deposits"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297595"	"04214"	"00405038"	"00000"	"Isolated (sporadic)"	"13y"	"best corrected visual acuity right/left eye: 0.9/0.2, fundus appearance both eyes or right/left eye: atrophic / pseudohypopyonelectrooculography Arden ratios right/left eye: not available, optical coherence tomography right/left eye: hyperreflective material between photoreceptors and the retinal pigment epithelium, neurosensory retinal detachment/neurosensory retinal detachment"	"9y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297596"	"04214"	"00405039"	"00000"	"Familial, autosomal dominant"	"41y"	"best corrected visual acuity right/left eye: 0.2/0.3, fundus appearance both eyes or right/left eye: atrophic electrooculography Arden ratios right/left eye: not available, optical coherence tomography right/left eye: hyperreflective material between photoreceptors and the retinal pigment epithelium, neurosensory retinal detachment"	"36y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297597"	"04214"	"00405040"	"00000"	"Familial, autosomal dominant"	"21y"	"best corrected visual acuity right/left eye: 0.4/0.4, fundus appearance both eyes or right/left eye: pseudohypopyonelectrooculography Arden ratios right/left eye: not available, optical coherence tomography right/left eye: hyperreflective material between photoreceptors and the retinal pigment epithelium, neurosensory retinal detachment"	"20y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297598"	"04214"	"00405041"	"00000"	"Isolated (sporadic)"	"8y"	"best corrected visual acuity right/left eye: 0.5/0.5, fundus appearance both eyes or right/left eye: atrophic / vitelliformelectrooculography Arden ratios right/left eye: not available, optical coherence tomography right/left eye: disappearance of the retinal pigment epithelium/hyperreflective material between photoreceptors and the retinal pigment epithelium, neurosensory retinal detachment"	"3y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297599"	"04214"	"00405042"	"00000"	"Familial, autosomal dominant"	"48y"	"best corrected visual acuity right/left eye: 0.5/0.8, fundus appearance both eyes or right/left eye: atrophic/ vitelliformelectrooculography Arden ratios right/left eye: 1.1/1.1, optical coherence tomography right/left eye: disappearance of the retinal pigment epithelium/hyperreflective material between photoreceptors and the retinal pigment epithelium"	"48y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297600"	"04214"	"00405043"	"00000"	"Isolated (sporadic)"	"34y"	"best corrected visual acuity right/left eye: 0.4/0.6, fundus appearance both eyes or right/left eye: vitelliformelectrooculography Arden ratios right/left eye: not available, optical coherence tomography right/left eye: hyperreflective material between photoreceptors and the retinal pigment epithelium/neurosensory retinal detachment, hyperreflective material between photoreceptors and the retinal pigment epithelium"	"34y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297601"	"04214"	"00405044"	"00000"	"Isolated (sporadic)"	"5y"	"best corrected visual acuity right/left eye: 0.2/0.4, fundus appearance both eyes or right/left eye: vitelliformelectrooculography Arden ratios right/left eye: not available, optical coherence tomography right/left eye: hyperreflective material between photoreceptors and the retinal pigment epithelium"	"3y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297602"	"04214"	"00405045"	"00000"	"Isolated (sporadic)"	"46y"	"best corrected visual acuity right/left eye: 0.4/0.4, fundus appearance both eyes or right/left eye: atrophic electrooculography Arden ratios right/left eye: not available, optical coherence tomography right/left eye: neurosensory retinal detachment"	"45y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297603"	"04214"	"00405046"	"00000"	"Familial, autosomal dominant"	"6y"	"best corrected visual acuity right/left eye: 0.3/0.3, fundus appearance both eyes or right/left eye: vitelliformelectrooculography Arden ratios right/left eye: not available, optical coherence tomography right/left eye: hyperreflective material between photoreceptors and the retinal pigment epithelium, neurosensory retinal detachment"	"6y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297604"	"04214"	"00405047"	"00000"	"Isolated (sporadic)"	"7y"	"best corrected visual acuity right/left eye: 0.2/0.3, fundus appearance both eyes or right/left eye: atrophic electrooculography Arden ratios right/left eye: not available, optical coherence tomography right/left eye: hyperreflective material between photoreceptors and the retinal pigment epithelium, neurosensory retinal detachment"	"7y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297605"	"04214"	"00405048"	"00000"	"Isolated (sporadic)"	"22y"	"best corrected visual acuity right/left eye: 1.5/0.1, fundus appearance both eyes or right/left eye: previtelliform/ atrophic electrooculography Arden ratios right/left eye: 1.2/1.3, optical coherence tomography right/left eye: normal/hyperreflective material between photoreceptors and the retinal pigment epithelium"	"22y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297606"	"04214"	"00405049"	"00000"	"Isolated (sporadic)"	"29y"	"best corrected visual acuity right/left eye: FC/0.8, fundus appearance both eyes or right/left eye: atrophic electrooculography Arden ratios right/left eye: not available, optical coherence tomography right/left eye: choroidal neovascularization,  neurosensory retinal detachment/ neurosensory retinal detachment"	"27y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297607"	"04214"	"00405050"	"00000"	"Isolated (sporadic)"	"17y"	"best corrected visual acuity right/left eye: 0.5/0.2, fundus appearance both eyes or right/left eye: vitelliform/ atrophic electrooculography Arden ratios right/left eye: 1.4/1.2, optical coherence tomography right/left eye: hyperreflective material between photoreceptors and the retinal pigment epithelium/ neurosensory retinal detachment, disappearance of the retinal pigment epithelium"	"16y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297608"	"04214"	"00405051"	"00000"	"Isolated (sporadic)"	"26y"	"best corrected visual acuity right/left eye: 0.7/0.4, fundus appearance both eyes or right/left eye: pseudohypopyon/ atrophic electrooculography Arden ratios right/left eye: 1.2/1.1, optical coherence tomography right/left eye: hyperreflective material between photoreceptors and the retinal pigment epithelium,  neurosensory retinal detachment"	"23y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297609"	"04214"	"00405052"	"00000"	"Isolated (sporadic)"	"39y"	"best corrected visual acuity right/left eye: 0.4/0.3, fundus appearance both eyes or right/left eye: atrophic electrooculography Arden ratios right/left eye: not available, optical coherence tomography right/left eye: neurosensory retinal detachment"	"37y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297610"	"04214"	"00405053"	"00000"	"Isolated (sporadic)"	"11y"	"best corrected visual acuity right/left eye: 0.1/1.5, fundus appearance both eyes or right/left eye: atrophic/ vitelliformelectrooculography Arden ratios right/left eye: 1.3/1.2, optical coherence tomography right/left eye: choroidal neovascularization/neurosensory retinal detachment"	"11y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297611"	"04214"	"00405054"	"00000"	"Isolated (sporadic)"	"18y"	"best corrected visual acuity right/left eye: 0.3/0.4, fundus appearance both eyes or right/left eye: multifocal lesionselectrooculography Arden ratios right/left eye: not available, optical coherence tomography right/left eye: NA/ NA"	"8y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297612"	"04214"	"00405055"	"00000"	"Isolated (sporadic)"	"47y"	"best corrected visual acuity right/left eye: 0.2/0.1, fundus appearance both eyes or right/left eye: multifocal lesionselectrooculography Arden ratios right/left eye: not available, optical coherence tomography right/left eye: cystoid macular edema, neurosensory retinal detachment"	"37y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297613"	"04214"	"00405056"	"00000"	"Isolated (sporadic)"	"32y"	"best corrected visual acuity right/left eye: 0.6/0.2, fundus appearance both eyes or right/left eye: multifocal lesionselectrooculography Arden ratios right/left eye: 1.2/1.1, optical coherence tomography right/left eye: cystoid macular edema, neurosensory retinal detachment"	"22y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297614"	"04214"	"00405057"	"00000"	"Isolated (sporadic)"	"39y"	"best corrected visual acuity right/left eye: 1.2/0.8, fundus appearance both eyes or right/left eye: multifocal lesionselectrooculography Arden ratios right/left eye: 1.0/1.1, optical coherence tomography right/left eye: neurosensory retinal detachment"	"37y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297615"	"04214"	"00405058"	"00000"	"Isolated (sporadic)"	"6y"	"best corrected visual acuity right/left eye: 0.5/0.5, fundus appearance both eyes or right/left eye: multifocal lesionselectrooculography Arden ratios right/left eye: not available, optical coherence tomography right/left eye: cystoid macular edema, neurosensory retinal detachment"	"4y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297616"	"04214"	"00405059"	"00000"	"Isolated (sporadic)"	"45y"	"best corrected visual acuity right/left eye: 0.02/0.1, fundus appearance both eyes or right/left eye: multifocal lesionselectrooculography Arden ratios right/left eye: not available, optical coherence tomography right/left eye: neurosensory retinal detachment"	"35y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297617"	"04214"	"00405060"	"00000"	"Isolated (sporadic)"	"17y"	"best corrected visual acuity right/left eye: 0.7/0.2, fundus appearance both eyes or right/left eye: multifocal lesionselectrooculography Arden ratios right/left eye: 1.1/1.3, optical coherence tomography right/left eye: cystoid macular edema, neurosensory retinal detachment"	"7y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297618"	"04214"	"00405061"	"00000"	"Isolated (sporadic)"	"37y"	"best corrected visual acuity right/left eye: 0.1/0.5, fundus appearance both eyes or right/left eye: multifocal lesionselectrooculography Arden ratios right/left eye: not available, optical coherence tomography right/left eye: cystoid macular edema, neurosensory retinal detachment"	"32y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297619"	"04214"	"00405062"	"00000"	"Isolated (sporadic)"	"5y"	"best corrected visual acuity right/left eye: 0.7/0.7, fundus appearance both eyes or right/left eye: multifocal lesionselectrooculography Arden ratios right/left eye: not available, optical coherence tomography right/left eye: cystoid macular edema, neurosensory retinal detachment"	"5y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297620"	"04214"	"00405063"	"00000"	"Isolated (sporadic)"	"34y"	"best corrected visual acuity right/left eye: 0.1/0.1, fundus appearance both eyes or right/left eye: multifocal lesionselectrooculography Arden ratios right/left eye: 1.1/1.1, optical coherence tomography right/left eye: cystoid macular edema, neurosensory retinal detachment; angle-closure glaucoma"	"24y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297621"	"04214"	"00405064"	"00000"	"Isolated (sporadic)"	"16y"	"best corrected visual acuity right/left eye: 0.1/0.4, fundus appearance both eyes or right/left eye: multifocal lesionselectrooculography Arden ratios right/left eye: not available, optical coherence tomography right/left eye: hyperreflective material between photoreceptors and the retinal pigment epithelium, cystoid macular edema, neurosensory retinal detachment"	"12y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297622"	"04214"	"00405065"	"00000"	"Isolated (sporadic)"	"18y"	"best corrected visual acuity right/left eye: 0.2/0.1, fundus appearance both eyes or right/left eye: multifocal lesionselectrooculography Arden ratios right/left eye: 1.0/1.1, optical coherence tomography right/left eye: hyperreflective material between photoreceptors and the retinal pigment epithelium, cystoid macular edema, neurosensory retinal detachment"	"15y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297623"	"04214"	"00405066"	"00000"	"Familial, autosomal recessive"	"57y"	"best corrected visual acuity right/left eye: 0.05/no light perception, fundus appearance both eyes or right/left eye: multifocal lesions/not availableelectrooculography Arden ratios right/left eye: 1.1/not available, optical coherence tomography right/left eye: hyperreflective material between photoreceptors and the retinal pigment epithelium/ NA; angle-closure glaucoma"	"27y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297624"	"04214"	"00405067"	"00000"	"Familial, autosomal recessive"	"38y"	"best corrected visual acuity right/left eye: 0.01/0.4, fundus appearance both eyes or right/left eye: multifocal lesionselectrooculography Arden ratios right/left eye: 1.2/1.1, optical coherence tomography right/left eye: neurosensory retinal detachment/cystoid macular edema, disappearance of the retinal pigment epithelium; angle-closure glaucoma"	"34y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297625"	"04214"	"00405068"	"00000"	"Isolated (sporadic)"	"10y"	"best corrected visual acuity right/left eye: 0.3/0.5, fundus appearance both eyes or right/left eye: multifocal lesionselectrooculography Arden ratios right/left eye: not available, optical coherence tomography right/left eye: cystoid macular edema, neurosensory retinal detachment"	"5y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297626"	"04214"	"00405069"	"00000"	"Isolated (sporadic)"	"27y"	"best corrected visual acuity right/left eye: 0.2/0.8, fundus appearance both eyes or right/left eye: multifocal lesionselectrooculography Arden ratios right/left eye: not available, optical coherence tomography right/left eye: cystoid macular edema, neurosensory retinal detachment; angle-closure glaucoma"	"25y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297627"	"04214"	"00405070"	"00000"	"Isolated (sporadic)"	"23y"	"best corrected visual acuity right/left eye: 0.1/0.3, fundus appearance both eyes or right/left eye: multifocal lesionselectrooculography Arden ratios right/left eye: 1.3/1.2, optical coherence tomography right/left eye: cystoid macular edema, neurosensory retinal detachment; angle-closure glaucoma"	"23y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297628"	"04214"	"00405071"	"00000"	"Isolated (sporadic)"	"30y"	"best corrected visual acuity right/left eye: 0.2/0.3, fundus appearance both eyes or right/left eye: multifocal lesionselectrooculography Arden ratios right/left eye: not available, optical coherence tomography right/left eye: cystoid macular edema, neurosensory retinal detachment; angle-closure glaucoma"	"29y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297629"	"04214"	"00405072"	"00000"	"Isolated (sporadic)"	"46y"	"best corrected visual acuity right/left eye: 0.4/0.4, fundus appearance both eyes or right/left eye: multifocal lesionselectrooculography Arden ratios right/left eye: 1.1/1.1, optical coherence tomography right/left eye: neurosensory retinal detachment/      hyperreflective material between photoreceptors and the retinal pigment epithelium, cystoid macular edema, neurosensory retinal detachment; angle-closure glaucoma"	"44y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297630"	"04214"	"00405073"	"00000"	"Isolated (sporadic)"	"6y"	"best corrected visual acuity right/left eye: 0.4/0.6, fundus appearance both eyes or right/left eye: multifocal lesionselectrooculography Arden ratios right/left eye: not available, optical coherence tomography right/left eye: neurosensory retinal detachment/      hyperreflective material between photoreceptors and the retinal pigment epithelium, cystoid macular edema, neurosensory retinal detachment"	"6y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297631"	"04214"	"00405074"	"00000"	"Isolated (sporadic)"	"10y"	"refraction: +6.25 diopter sphere both eyes; best-corrected visual acuity right/left eye: 0.2 / 0.1; cornea and the lens transparent; fundus: vitelliruptive lesions with an ‘egg-yolk’ appearance in both eyes; fluorescein angiography: normal in the early detection period, small amount of hyperfluorescence of the angiographic sequence with moderate leakage at the late detection period both eyes; optical coherence tomography: foveal region of both eyes abnormally thick due to neuroretinal detachment from the retinal pigment epithelium, probably triggered by the abnormal accumulation of hyper‑reflective materials beneath the retina of bot"	""	"10y"	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297632"	"04214"	"00405075"	"00000"	"Familial, autosomal dominant"	"59y"	"best-corrected visual acuity (BCVA) right/left eye: 20/20 / 20/25; anterior segment: normal; funduscopy: multifocal hyperautofluorescent vitelliform deposits with areas of subretinal fibrosis in both eyes; electrooculogram Arden ratios right/left eye: 1.32 / 1.97; ultra-widefield color and fundus autofluorescence imaging: degenerative retinal changes in areas throughout the entire fundus in both eyes;optical coherence tomography (scans from 2005 to 2016 ): persistent bilateral serous macular detachments; despite this, BCVA 20/25 / 20/40 in her left eye 24y after initial presentation; positive family history (mother)"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297633"	"04214"	"00405076"	"00000"	"Familial, autosomal dominant"	""	"best-corrected visual acuity (BCVA) right/left eye (spherical equivalent, D) : 1.0 (-0.375) / 0.9 (-0.25); electroretinography: normal; electrooculography Arden ratios right/left eye: 1.6 /"	""	""	"fundus: bilateral small subretinal yellow deposits"	""	""	""	""	""	"Adult-onset vitelliform macular dystrophy"	""	""
"0000297634"	"04214"	"00405077"	"00000"	"Familial, autosomal dominant"	"39y"	"electrooculography Arden ratio right/left eye (%): 220/180"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297635"	"04214"	"00405078"	"00000"	"Familial, autosomal dominant"	"36y"	"electrooculography Arden ratio right/left eye (%): 120/120"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297636"	"04214"	"00405079"	"00000"	"Familial, autosomal recessive"	"41y"	"electrooculography Arden ratio right/left eye (%): 175/260"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297637"	"04214"	"00405080"	"00000"	"Familial, autosomal dominant"	"9y"	"electrooculography Arden ratio right/left eye (%): 180/180"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297638"	"04214"	"00405081"	"00000"	"Familial, autosomal dominant"	"33y"	"electrooculography Arden ratio right/left eye (%): 170/175"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297641"	"04214"	"00405084"	"00000"	"Isolated (sporadic)"	"16y"	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297642"	"04214"	"00405085"	"00000"	"Isolated (sporadic)"	"43y"	""	""	""	""	""	""	""	""	""	"adult-onset Best vitelliform macular dystrophy"	""	""
"0000297644"	"04214"	"00405087"	"00000"	"Isolated (sporadic)"	"16y"	"best-corrected distance visual acuity : 0.2; refraction right/left eye: 1.00  + 1.25 x 93 / +0.25  + 1.00 x 100; intraocular pressure: 10 / 11 mmHg; slit lamp biomicroscopiy:  prominent corneal nerves, trace posterior subcapsular cataract, trace to 1 + vitreous cell, massive cystoid macular edema (CME), retinal vascular attenuation (more prominent in the periphery) and extensive bone spicules in both eyes ; optical coherence tomography (OCT): CME with clear progression (oral acetazolamide for CME, and after 2e3 weeks of treatment with sustained release acetazolamide 250 mg BID (Diamox SR), his CME had nearly resolved, resulting in visual acuities of 0.3 / 0.15; OCT angiography: inner retinal microvascular capillary loss and remodeling; visual field: generalized constriction to within 20deg in both eyes; full-field scotopic electroretinography: attenuation of rod and cone responses with trace residual photopic cone responses; electrooculography Arden ratios: <1.5"	""	""	"nyctalopia and constricted peripheral vision"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000297645"	"04214"	"00405088"	"00000"	"Familial, autosomal dominant"	"92y"	"see paper"	""	""	""	""	""	""	""	""	"autosomal dominant vitreoretinochoroidopathy (ADVIRC)"	""	""
"0000297649"	"04214"	"00405100"	"00000"	"Familial, autosomal dominant"	"69y"	"best corrected visual acuity right, left eye: 20/80, 20/500, fundus right/left eye: pseudohypopyon/atrophic, electrooculography Arden ratios right/left eye: 1/1.1, choroidal neovascularization (CNV): no, CNV follow-up (months): 10"	"64y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 3 (VMD3)"	""	""
"0000297650"	"04214"	"00405101"	"00000"	"Familial, autosomal dominant"	"59y"	"best corrected visual acuity right, left eye: 20/50, 20/100, fundus right/left eye: pseudohypopyon/vitelliruptive, electrooculography Arden ratios right/left eye: 1.1/1.1, choroidal neovascularization (CNV): no, CNV follow-up (months): 9"	"47y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 3 (VMD3)"	""	""
"0000297651"	"04214"	"00405102"	"00000"	"Familial, autosomal dominant"	"40y"	"best corrected visual acuity right, left eye: 20/50, 20/50, fundus right/left eye: vitelliruptive/atrophic, electrooculography Arden ratios right/left eye: 2.2/1.9, choroidal neovascularization (CNV): no, CNV follow-up (months): 9"	"39y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 3 (VMD3)"	""	""
"0000297652"	"04214"	"00405103"	"00000"	"Familial, autosomal dominant"	"62y"	"best corrected visual acuity right, left eye: 20/80, 20/63, fundus right/left eye: vitelliruptive/vitelliruptive, electrooculography Arden ratios right/left eye: not available, choroidal neovascularization (CNV): no, CNV follow-up (months): 9"	"60y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 3 (VMD3)"	""	""
"0000297653"	"04214"	"00405104"	"00000"	"Familial, autosomal dominant"	"51y"	"best corrected visual acuity right, left eye: 20/200, 20/32, fundus right/left eye: atrophic/vitelliform, electrooculography Arden ratios right/left eye: 1.2/1.2, choroidal neovascularization (CNV): no, CNV follow-up (months): 13"	"49y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 3 (VMD3)"	""	""
"0000297654"	"04214"	"00405105"	"00000"	"Familial, autosomal dominant"	"41y"	"best corrected visual acuity right, left eye: 20/80, 20/40, fundus right/left eye: vitelliruptive/vitelliruptive, electrooculography Arden ratios right/left eye: 1/1, choroidal neovascularization (CNV): no, CNV follow-up (months): 9"	"36y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 3 (VMD3)"	""	""
"0000297655"	"04214"	"00405106"	"00000"	"Familial, autosomal dominant"	"69y"	"best corrected visual acuity right, left eye: 20/25, 20/25, fundus right/left eye: normal/normal, electrooculography Arden ratios right/left eye: not available, choroidal neovascularization (CNV): no, CNV follow-up (months): 9"	"52y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 3 (VMD3)"	""	""
"0000297656"	"04214"	"00405107"	"00000"	"Familial, autosomal dominant"	"59y"	"best corrected visual acuity right, left eye: 20/80, 20/63, fundus right/left eye: vitelliruptive/vitelliruptive, electrooculography Arden ratios right/left eye: not available, choroidal neovascularization (CNV): no, CNV follow-up (months): 9"	"42y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 3 (VMD3)"	""	""
"0000297657"	"04214"	"00405108"	"00000"	"Familial, autosomal dominant"	"38y"	"best corrected visual acuity right, left eye: 20/32, 20/32, fundus right/left eye: vitelliruptive/vitelliruptive, electrooculography Arden ratios right/left eye: not available, choroidal neovascularization (CNV): no, CNV follow-up (months): 9"	"35y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 3 (VMD3)"	""	""
"0000297658"	"04214"	"00405109"	"00000"	"Familial, autosomal dominant"	"16y"	"best corrected visual acuity right, left eye: 20/160, 20/20, fundus right/left eye: vitelliruptive/fibrotic, electrooculography Arden ratios right/left eye: not available, choroidal neovascularization (CNV): yes, CNV follow-up (months): 9"	"14y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 3 (VMD3)"	""	""
"0000297659"	"04214"	"00405110"	"00000"	"Familial, autosomal dominant"	"47y"	"best corrected visual acuity right, left eye: 20/63, 20/50, fundus right/left eye: vitelliruptive/vitelliruptive, electrooculography Arden ratios right/left eye: 1.1/1.2, choroidal neovascularization (CNV): no, CNV follow-up (months): 13"	"33y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 3 (VMD3)"	""	""
"0000297660"	"04214"	"00405111"	"00000"	"Familial, autosomal dominant"	"62y"	"best corrected visual acuity right, left eye: 20/50, 20/200, fundus right/left eye: vitelliruptive/vitelliruptive, electrooculography Arden ratios right/left eye: 1.2/1.3, choroidal neovascularization (CNV): no, CNV follow-up (months): 14"	"58y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 3 (VMD3)"	""	""
"0000297661"	"04214"	"00405112"	"00000"	"Familial, autosomal dominant"	"30y"	"best corrected visual acuity right, left eye: 20/50, 20/100, fundus right/left eye: vitelliruptive/fibrotic, electrooculography Arden ratios right/left eye: 1/1.2, choroidal neovascularization (CNV): yes, CNV follow-up (months):-"	"30y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 3 (VMD3)"	""	""
"0000297662"	"04214"	"00405113"	"00000"	"Familial, autosomal dominant"	"33y"	"best corrected visual acuity right, left eye: 20/20, 20/25, fundus right/left eye: vitelliform/vitelliform, electrooculography Arden ratios right/left eye: 2.0/1.8, choroidal neovascularization (CNV): no, CNV follow-up (months): 11"	"32y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 3 (VMD3)"	""	""
"0000297663"	"04214"	"00405114"	"00000"	"Familial, autosomal dominant"	"33y"	"best corrected visual acuity right, left eye: 20/20, 20/25, fundus right/left eye: vitelliform/vitelliform, electrooculography Arden ratios right/left eye: 2.0/1.8, choroidal neovascularization (CNV): no, CNV follow-up (months): 11"	"32y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 3 (VMD3)"	""	""
"0000297664"	"04214"	"00405115"	"00000"	"Familial, autosomal dominant"	"46y"	"best corrected visual acuity right, left eye: 20/50, 20/50, fundus right/left eye: vitelliruptive/vitelliruptive, electrooculography Arden ratios right/left eye: 1.2/1.2, choroidal neovascularization (CNV): no, CNV follow-up (months): 12"	"45y"	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 3 (VMD3)"	""	""
"0000297665"	"04214"	"00405116"	"00000"	"Familial, autosomal dominant"	"43y"	"strabismic amblyopia,fundus: bilateral neurosensory detachments in posterior pole, surrounded by deposits of lipofuscin; electrooculography Arden ratio: decreased"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297666"	"04214"	"00405117"	"00000"	"Familial, autosomal dominant"	"3y"	"fundus: bilateral neurosensory detachments in posterior pole, pseudohypopyon right eye, fibrosis scar in left eye; electrooculography Arden ratio: decreased"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297725"	"04214"	"00405176"	"00000"	"Familial, autosomal recessive"	"21y"	"corrected distance visual acuity: 20/60, optical coherence tomography: cystoid and schitic changes in macula, electroretinogram: rod-cone dysfunction, electrooculography Arden ratio: absent light peak"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297726"	"04214"	"00405177"	"00000"	"Familial, autosomal recessive"	"24y"	"corrected distance visual acuity: 20/60, optical coherence tomography: cystoid and schitic changes in macula, electroretinogram: rod-cone dysfunction, electrooculography Arden ratio: absent light peak"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297727"	"04214"	"00405178"	"00000"	"Familial, autosomal recessive"	"24y"	"corrected distance visual acuity right/left eye: 20/40, 20/30, optical coherence tomography: schitic changes with subretinal fluid, electroretinogram: rod-cone dysfunction, electrooculography Arden ratio: absent light peak"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297728"	"04214"	"00405179"	"00000"	"Familial, autosomal recessive"	"21y"	"corrected distance visual acuity: 20/125, optical coherence tomography: focal schitic changes with predominant subretinal fluid, electroretinogram: normal, electrooculography Arden ratio: absent light peak"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297729"	"04214"	"00405180"	"00000"	"Familial, autosomal recessive"	"11y"	"corrected distance visual acuity: 20/30, optical coherence tomography: focal schitic changes with predominant subretinal fluid, electroretinogram: not done, electrooculography Arden ratio: not done"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297730"	"04214"	"00405181"	"00000"	"Familial, autosomal recessive"	"26y"	"corrected distance visual acuity: , optical coherence tomography: focal schitic changes with predominant subretinal fluid, electroretinogram: not done, electrooculography Arden ratio: not done"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297731"	"04214"	"00405182"	"00000"	"Familial, autosomal recessive"	"20y"	"optical coherence tomography: focal schitic changes with predominant subretinal fluid, electroretinogram: not done, electrooculography Arden ratio: not done"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297732"	"04214"	"00405183"	"00000"	"Familial, autosomal dominant"	"11y"	"corrected distance visual acuity: 20/40, optical coherence tomography: subretinal fluid with vitelliform deposits, electroretinogram: normal, electrooculography Arden ratio: absent light peak"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297733"	"04214"	"00405184"	"00000"	"Familial, autosomal dominant"	"38y"	"corrected distance visual acuity: 20/20, optical coherence tomography: very small sub-foveal lesion, electroretinogram: not done, electrooculography Arden ratio: not done"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297734"	"04214"	"00405185"	"00000"	"Familial, autosomal dominant"	"8y"	"corrected distance visual acuity: 20/20, optical coherence tomography: normal, electroretinogram: not done, electrooculography Arden ratio: not done"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297735"	"04214"	"00405186"	"00000"	"Familial, autosomal dominant"	"68y"	"moderate vitreous and subretinal hemorrhage left eye -vitrectomy improved visual acuity, and the SRH gradually regressed without recurrence; distinct, annular hyperpigmented band in both eyes; optical coherence tomography: preserved macular function"	""	""	""	""	""	""	""	""	"autosomal-dominant vitreoretinochoroidopathy (ADVIRC)"	""	""
"0000297821"	"04214"	"00405272"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297822"	"04214"	"00405273"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297823"	"04214"	"00405274"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297824"	"04214"	"00405275"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297825"	"04214"	"00405276"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000297826"	"04214"	"00405277"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297827"	"04214"	"00405278"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000297828"	"04214"	"00405279"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297829"	"04214"	"00405280"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297830"	"04214"	"00405281"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297831"	"04214"	"00405282"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000297832"	"04214"	"00405283"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297833"	"04214"	"00405284"	"00000"	"Familial, autosomal dominant"	"15y"	"macular sub-retinal pigment epithelium deposits slowly progressing, best corrected visual acuity right/left eye: 20/20 / 20/25; 10y: peripapillary white and patchy superficial retinal lesion supernasal to the optic nerve slowly increasing in size over next 4 years, and the peripheral retina developed a tapetal sheen; optical coherence tomography (OCT): hyperreflective thickening of the inner retinal layers with a moth-eaten appearance and posterior shadowing; fluorescein angiography: early filling of the small lacey vessels within the lesion with pronounced residual hyperfluoresence in the late phases, no defined feeder vessel; OCT angiography: vascular flow consistent with a disorganized capillary network within the lesion. Multimodal imaging of the lesion was consistent with a retinal astrocytic hamartoma; no extraocular signs or symptoms"	"6y"	""	"vitelliform lesions in both maculae"	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297834"	"04214"	"00405285"	"00000"	"Familial, autosomal recessive"	"33y"	"best corrected visual acuity right/left eye: 20/60, counting fingers, refraction right/left eye: +0.75DS / +0.75DS, anterior segment both or right/left eye: angle-closure glaucoma, funduscopy both eyes or right/left eye: cystoid macular edema, retinal detachment, elongated photoreceptor outer segment, hyperreflective subretinal deposit / cystoid macular edema, retinal detachment, elongated photoreceptor outer segment, hyperreflective subretinal deposit, fibrosis, fundus fluorescein angiography both eyes or right/left eye: retinal pigment epithelium atrophy /retinal pigment epithelium atrophy, peripheral vascular leakage, indocyanine green angiography: permeability increased, electrooculography Arden ratios right/left eye: 1,5 /1"	"28y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000297835"	"04214"	"00405286"	"00000"	"Familial, autosomal recessive"	"29y"	"best corrected visual acuity right/left eye: 20/25, 20/20, refraction right/left eye: +2.50DS / +2.50DS, funduscopy both eyes or right/left eye: cystoid macular edema, retinal detachment, elongated photoreceptor outer segment, hyperreflective subretinal deposit, fundus fluorescein angiography both eyes or right/left eye: retinal pigment epithelium atrophy, posterior pole vascular leakage, peripheral vascular leakage, indocyanine green angiography: not available, electrooculography Arden ratios right/left eye: 0,98 / 1"	"<5y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000297836"	"04214"	"00405287"	"00000"	"Familial, autosomal recessive"	"31y"	"best corrected visual acuity right/left eye: 20/22, 20/32, refraction right/left eye: -0.50DS /-1.25DS, anterior segment both or right/left eye: angle-closure glaucoma, funduscopy both eyes or right/left eye: cystoid macular edema, retinal detachment, elongated photoreceptor outer segment, hyperreflective subretinal deposit, fundus fluorescein angiography both eyes or right/left eye: retinal pigment epithelium atrophy, posterior pole vascular leakage, peripheral vascular leakage, indocyanine green angiography: not available, electrooculography Arden ratios right/left eye: 1 / 1.1"	"<5y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000297837"	"04214"	"00405288"	"00000"	"Familial, autosomal recessive"	"31y"	"best corrected visual acuity right/left eye: HM, 20/400, refraction right/left eye: not available, not available, anterior segment both or right/left eye: angle-closure glaucoma, funduscopy both eyes or right/left eye: cystoid macular edema, retinal detachment, elongated photoreceptor outer segment, hyperreflective subretinal deposit, fundus fluorescein angiography both eyes or right/left eye: retinal pigment epithelium atrophy, indocyanine green angiography: permeability increased, hyperfluorescent spots, electrooculography Arden ratios right/left eye: not available"	"<5y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000297838"	"04214"	"00405289"	"00000"	"Familial, autosomal recessive"	"36y"	"best corrected visual acuity right/left eye: 20/400, 20/400, refraction right/left eye: not available, not available, funduscopy both eyes or right/left eye: retinal detachment, elongated photoreceptor outer segment, hyperreflective subretinal deposit, fundus fluorescein angiography both eyes or right/left eye: not available, indocyanine green angiography: not available, electrooculography Arden ratios right/left eye: not available"	"30y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000297839"	"04214"	"00405290"	"00000"	"Familial, autosomal recessive"	"28y"	"best corrected visual acuity right/left eye: 20/50, 20/25, refraction right/left eye: +5.00DS, +5.25DS, anterior segment both or right/left eye: angle-closure glaucoma / angle closure, funduscopy both eyes or right/left eye: retinal detachment, elongated photoreceptor outer segment, hyperreflective subretinal deposit, fundus fluorescein angiography both eyes or right/left eye: retinal pigment epithelium atrophy, posterior pole vascular leakage, indocyanine green angiography: not available, electrooculography Arden ratios right/left eye: 1,1 / 1"	"27y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000297840"	"04214"	"00405291"	"00000"	"Familial, autosomal recessive"	"21y"	"best corrected visual acuity right/left eye: 20/40, 20/32, refraction right/left eye: +4.00DS, +3.25DS, funduscopy both eyes or right/left eye: cystoid macular edema, retinal detachment, elongated photoreceptor outer segment, hyperreflective subretinal deposit, fundus fluorescein angiography both eyes or right/left eye: retinal pigment epithelium atrophy, peripheral vascular leakage, indocyanine green angiography: vessel dilatation, hyperfluorescent spots, electrooculography Arden ratios right/left eye: 1,2 / 1,2"	"5y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000297841"	"04214"	"00405292"	"00000"	"Familial, autosomal recessive"	"42y"	"best corrected visual acuity right/left eye: 20/50, 20/25, refraction right/left eye: not available, not available, funduscopy both eyes or right/left eye: cystoid macular edema, retinal detachment, elongated photoreceptor outer segment, hyperreflective subretinal deposit, fundus fluorescein angiography both eyes or right/left eye: retinal pigment epithelium atrophy, indocyanine green angiography: permeability increased, hyperfluorescent spots, electrooculography Arden ratios right/left eye: not available"	"19y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000297842"	"04214"	"00405293"	"00000"	"Familial, autosomal recessive"	"26y"	"best corrected visual acuity right/left eye: 20/60, 20/50, refraction right/left eye: +1.25DS, +2.50DS, anterior segment both or right/left eye: angle-closure glaucoma / angle closure, funduscopy both eyes or right/left eye: cystoid macular edema, retinal detachment, elongated photoreceptor outer segment, hyperreflective subretinal deposit, fibrosis / cystoid macular edema, retinal detachment, elongated photoreceptor outer segment, hyperreflective subretinal deposit, fundus fluorescein angiography both eyes or right/left eye: retinal pigment epithelium atrophy, peripheral vascular leakage, indocyanine green angiography: permeability increased, electrooculography Arden ratios right/left eye: 1,1 /"	"<5y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000297843"	"04214"	"00405294"	"00000"	"Familial, autosomal recessive"	"23y"	"best corrected visual acuity right/left eye: 20/125, 20/60, refraction right/left eye: -1.00DS, -1.00DS, anterior segment both or right/left eye: angle-closure glaucoma, funduscopy both eyes or right/left eye: cystoid macular edema, retinal detachment, elongated photoreceptor outer segment, hyperreflective subretinal deposit, fundus fluorescein angiography both eyes or right/left eye: retinal pigment epithelium atrophy, posterior pole vascular leakage, indocyanine green angiography: permeability increased, electrooculography Arden ratios right/left eye: 1,5 / 1,3"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000297844"	"04214"	"00405295"	"00000"	"Familial, autosomal recessive"	"28y"	"best corrected visual acuity right/left eye: 20/60, 20/40, refraction right/left eye: -2.25DS, -2.25DS, anterior segment both or right/left eye: angle-closure glaucoma, funduscopy both eyes or right/left eye: retinal detachment, elongated photoreceptor outer segment, hyperreflective subretinal deposit, fundus fluorescein angiography both eyes or right/left eye: retinal pigment epithelium atrophy, peripheral vascular leakage, indocyanine green angiography: hyperfluorescent spots, electrooculography Arden ratios right/left eye: 1,1 / 1"	"18y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000297845"	"04214"	"00405296"	"00000"	"Familial, autosomal recessive"	"17y"	"best corrected visual acuity right/left eye: 20/22, 20/40, refraction right/left eye: -1.00DS, -1.25DS, anterior segment both or right/left eye: angle-closure glaucoma, funduscopy both eyes or right/left eye: cystoid macular edema, retinal detachment, elongated photoreceptor outer segment, hyperreflective subretinal deposit, fundus fluorescein angiography both eyes or right/left eye: retinal pigment epithelium atrophy, posterior pole vascular leakage, peripheral vascular leakage, indocyanine green angiography: not available, electrooculography Arden ratios right/left eye: 1,3 / 1"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000297846"	"04214"	"00405297"	"00000"	"Familial, autosomal recessive"	"32y"	"best corrected visual acuity right/left eye: 20/25, no light perception, refraction right/left eye: -1.00DS, not available, anterior segment both or right/left eye: angle-closure glaucoma, funduscopy both eyes or right/left eye: retinal detachment, elongated photoreceptor outer segment, hyperreflective subretinal deposit / funnel-shaped retinal detachment, fundus fluorescein angiography both eyes or right/left eye: retinal pigment epithelium atrophy, posterior pole vascular leakage, peripheral vascular leakage / not available, indocyanine green angiography: permeability increased,  slight leakage / not available, electrooculography Arden ratios right/left eye: 1,2 / not available"	"16y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000297847"	"04214"	"00405298"	"00000"	"Familial, autosomal recessive"	"29y"	"best corrected visual acuity right/left eye: 20/50, 20/60, refraction right/left eye: +1.00DS, +1.00DS, anterior segment both or right/left eye: angle closure, funduscopy both eyes or right/left eye: cystoid macular edema, retinal detachment, elongated photoreceptor outer segment, hyperreflective subretinal deposit, fundus fluorescein angiography both eyes or right/left eye: retinal pigment epithelium atrophy / retinal pigment epithelium atrophy, peripheral vascular leakage, indocyanine green angiography: permeability increased, electrooculography Arden ratios right/left eye: 0,87 / 0,92"	"24y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000297848"	"04214"	"00405299"	"00000"	"Familial, autosomal recessive"	"21y"	"best corrected visual acuity right/left eye: 20/32, 20/60, refraction right/left eye: -0.25DS, -1.00DS, anterior segment both or right/left eye: angle closure, funduscopy both eyes or right/left eye: cystoid macular edema, retinal detachment, elongated photoreceptor outer segment, hyperreflective subretinal deposit, fundus fluorescein angiography both eyes or right/left eye: retinal pigment epithelium atrophy, posterior pole vascular leakage, peripheral vascular leakage, indocyanine green angiography: permeability increased, electrooculography Arden ratios right/left eye: 1 / 0,97"	"15y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000297849"	"04214"	"00405300"	"00000"	"Familial, autosomal recessive"	"25y"	"best corrected visual acuity right/left eye: 20/22, 20/22, refraction right/left eye: -1.25DS, -0.75DS, funduscopy both eyes or right/left eye: cystoid macular edema, retinal detachment, elongated photoreceptor outer segment, hyperreflective subretinal deposit, fundus fluorescein angiography both eyes or right/left eye: retinal pigment epithelium atrophy, posterior pole vascular leakage, peripheral vascular leakage, indocyanine green angiography: permeability increased, hyperfluorescent spots, electrooculography Arden ratios right/left eye: not available"	"17y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000297850"	"04214"	"00405301"	"00000"	"Familial, autosomal recessive"	"20y"	"best corrected visual acuity right/left eye: 20/100, 20/50, refraction right/left eye: +2.25DS, +3.25DS, anterior segment both or right/left eye: angle-closure glaucoma, funduscopy both eyes or right/left eye: cystoid macular edema, retinal detachment, elongated photoreceptor outer segment, hyperreflective subretinal deposit, fundus fluorescein angiography both eyes or right/left eye: retinal pigment epithelium atrophy, posterior pole vascular leakage, indocyanine green angiography: vessel dilatation, hyperfluorescent spots, electrooculography Arden ratios right/left eye: 1,2 / 1,1"	"16y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000297851"	"04214"	"00405302"	"00000"	"Familial, autosomal recessive"	"26y"	"best corrected visual acuity right/left eye: 20/32, 20/40, refraction right/left eye: +2.50DS, +2.25DS, funduscopy both eyes or right/left eye: cystoid macular edema, retinal detachment, elongated photoreceptor outer segment, hyperreflective subretinal deposit, fundus fluorescein angiography both eyes or right/left eye: retinal pigment epithelium atrophy, posterior pole vascular leakage, peripheral vascular leakage, indocyanine green angiography: vessel dilatation, hyperfluorescent spots, electrooculography Arden ratios right/left eye: 1,5 / 1,2"	"<5y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000297852"	"04214"	"00405303"	"00000"	"Familial, autosomal recessive"	"39y"	"best corrected visual acuity right/left eye: 20/80, light perception, refraction right/left eye: not available, not available, anterior segment both or right/left eye: angle-closure glaucoma, funduscopy both eyes or right/left eye: cystoid macular edema,  retina atrophy / not available, fundus fluorescein angiography both eyes or right/left eye: diffuse retinal pigment epithelium atrophy, vessels narrow,  filling delay / not available, indocyanine green angiography: not available, electrooculography Arden ratios right/left eye: 1,2 / not avail"	"<5y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000297855"	"04214"	"00405306"	"00000"	"Familial, autosomal dominant"	"44y4m"	"stage right/left eye: 5 (2 - extrafoveal lesion of the same eye) / monoculus because of trauma, best corrected visual acuity right/left eye: 0.30 (20/40) / -"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297856"	"04214"	"00405307"	"00000"	"Familial, autosomal dominant"	"74y"	"stage right/left eye: 1 / 3, best corrected visual acuity right/left eye: 0.00 (20/20) / 0.15 (20/28)"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297857"	"04214"	"00405308"	"00000"	"Familial, autosomal dominant"	"69y5m"	"stage right/left eye: 4 / 5, best corrected visual acuity right/left eye: 1.00 (20/200) / 1.00 (20/200)"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297858"	"04214"	"00405309"	"00000"	"Familial, autosomal dominant"	"80y4m"	"stage right/left eye: 2 / 2, best corrected visual acuity right/left eye: 0.30 (20/40) / 0.22 (20/33)"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297859"	"04214"	"00405310"	"00000"	"Familial, autosomal dominant"	"39y8m"	"stage right/left eye: 2 / 2, best corrected visual acuity right/left eye: 0.22 (20/33) / 0.15 (20/28)"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297860"	"04214"	"00405311"	"00000"	"Familial, autosomal recessive"	"20y6m"	"best corrected visual acuity right/left eye: 0.52 (20/66) / 0.30 (20/40)"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000297861"	"04214"	"00405312"	"00000"	"Familial, autosomal dominant"	"49y7m"	"stage right/left eye: 4 / 4, best corrected visual acuity right/left eye: 0.60 (20/80) / 0.60 (20/80)"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297862"	"04214"	"00405313"	"00000"	"Familial, autosomal dominant"	"78y7m"	"stage right/left eye: 2 / 2, best corrected visual acuity right/left eye: 0.40 (20/50) / 0.15 (20/28)"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297863"	"04214"	"00405314"	"00000"	"Familial, autosomal dominant"	"67y2m"	"stage right/left eye: 5 / 2, best corrected visual acuity right/left eye: 1.00 (20/200) / 0.00 (20/20)"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297864"	"04214"	"00405315"	"00000"	"Familial, autosomal dominant"	"47y4m"	"stage right/left eye: 2 / 2, best corrected visual acuity right/left eye: 0.22 (20/33) / 1.00 (20/200)"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297865"	"04214"	"00405316"	"00000"	"Familial, autosomal recessive"	"28y7m"	"best corrected visual acuity right/left eye: 1.00 (20/200) / 0.70 (20/100)"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000297866"	"04214"	"00405317"	"00000"	"Familial, autosomal dominant"	"71y1m"	"stage right/left eye: 2 / 2, best corrected visual acuity right/left eye: 0.70 (20/100) / 0.05 (20/22)"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297867"	"04214"	"00405318"	"00000"	"Familial, autosomal recessive"	"18y5m"	"best corrected visual acuity right/left eye: 0.40 (20/50) / 0.52 (20/66)"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000297868"	"04214"	"00405319"	"00000"	"Familial, autosomal dominant"	"49y"	"retinal  circumferential hyperpigmented band, congenital cataract, high hyperopia secondary to bilateral aphakia"	""	""	""	""	""	""	""	""	"autosomal dominant vitreoretinochoroidopathy (ADVIRC)"	"rod-cone dystrophy"	""
"0000297869"	"04214"	"00405320"	"00000"	"Familial, autosomal dominant"	"60y"	"fibrillar vitreous condensation"	""	""	""	""	""	""	""	""	"autosomal dominant vitreoretinochoroidopathy (ADVIRC)"	"rod-cone dystrophy"	""
"0000297870"	"04214"	"00405321"	"00000"	"Familial, autosomal dominant"	"62y"	"retinal  circumferential hyperpigmented band"	""	""	""	""	""	""	""	""	"autosomal dominant vitreoretinochoroidopathy (ADVIRC)"	"rod-cone dystrophy"	""
"0000297871"	"04214"	"00405322"	"00000"	"Familial, autosomal dominant"	"71y"	"retinal  circumferential hyperpigmented band, angle-closure glaucoma"	""	""	""	""	""	""	""	""	"autosomal dominant vitreoretinochoroidopathy (ADVIRC)"	"rod-cone dystrophy"	""
"0000297872"	"04214"	"00405323"	"00000"	"Familial, autosomal dominant"	"66y"	"narrowed angle treated by bilateral laser iridotomy"	""	""	""	""	""	""	""	""	"autosomal dominant vitreoretinochoroidopathy (ADVIRC)"	"rod-cone dystrophy"	""
"0000297873"	"04214"	"00405325"	"00000"	"Familial, autosomal dominant"	"74y"	"best-corrected visual acuity right, left eye: 20/60, CF at 50 cm; spherical equivalent: 0 / 0; intraocular pressure (mmHg): 14 / 15; disease stage both eyes: stage V; fundus both eyes: retinal pigment epithelium atrophy, subretinal fibrosis, left eye: foveal photoreceptor outer segments atrophy"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297874"	"04214"	"00405326"	"00000"	"Familial, autosomal dominant"	"72y"	"best-corrected visual acuity right, left eye: 20/200, 20/160; spherical equivalent: +5.50 / +5.50; intraocular pressure (mmHg): 14 / 12; disease stage both eyes: stage IV; fundus both eyes: retinal pigment epithelium atrophy, serous retinal detachment, foveal photoreceptor outer segments atrophy"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297875"	"04214"	"00405327"	"00000"	"Familial, autosomal dominant"	"62y"	"best-corrected visual acuity right, left eye: CF at 50 cm, CF at 50 cm; spherical equivalent: +2.00 / +2.75; intraocular pressure (mmHg): 16 / 16; disease stage both eyes: stage IV; fundus both eyes: retinal pigment epithelium atrophy, serous retinal detachment, foveal photoreceptor outer segments atrophy"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297876"	"04214"	"00405328"	"00000"	"Familial, autosomal dominant"	"57y"	"best-corrected visual acuity right, left eye: 20/125, 20/200; spherical equivalent: +1.25 / +0.50; intraocular pressure (mmHg): 16 / 16; disease stage both eyes: stage V; fundus both eyes: retinal pigment epithelium atrophy, foveal photoreceptor outer segments atrophy"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297877"	"04214"	"00405329"	"00000"	"Familial, autosomal dominant"	"54y"	"best-corrected visual acuity right, left eye: 20/25, 20/25; spherical equivalent: +1.00 / +1.50; intraocular pressure (mmHg): 13 / 12; disease stage both eyes: stage III; fundus both eyes: yellow subretinal deposits, retinal pigment epithelium atrophy, serous retinal detachment, foveal photoreceptor outer segments atrophy"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297878"	"04214"	"00405330"	"00000"	"Familial, autosomal dominant"	"29y"	"best-corrected visual acuity right, left eye: 20/25, 20/50; spherical equivalent: -0.50 / -0.25; intraocular pressure (mmHg): 13 / 13; disease stage both eyes: stage IV; fundus both eyes: yellow subretinal deposits, serous retinal detachment, foveal photoreceptor outer segments atrophy, left eye: subretinal fibrosis"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297879"	"04214"	"00405331"	"00000"	"Familial, autosomal dominant"	"24y"	"best-corrected visual acuity right, left eye: 20/20, 20/20; spherical equivalent: -0.25 / -0.50; intraocular pressure (mmHg): 10 / 11; disease stage both eyes: stage III; fundus both eyes: yellow subretinal deposits, serous retinal detachment, foveal photoreceptor outer segments atrophy"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297880"	"04214"	"00405332"	"00000"	"Familial, autosomal recessive"	"11y"	"at presentation 9y: best-corrected visual acuity (BCVA) right, left eye: 20/50, 20/500 left eye; fundus: retinal thickening at the right macula and extensive macular scarring left eye; fundus autofluorescence and optical coherence tomography consistent with ARB; electrooculography Arden ratios right/left eye reduced: 1.20 / 1.40; fluorescein angiography and indocyanine green angiography: active choroidal neovascularization right eye (CNV), which was confirmed on OCT angiography (OCTA); two monthly intravitreal injections of ranibizumab (0.5 mg per 0.05 mL); 1m after the second injection BCVA: 20/63, response of the CNV to the treatment - decreased vascular flow signal within the neovascular network. 2 years of follow-up and seven further intravitreal injections of ranibizumab, BCVA in the right eye dropped to 20/200 because of recurrent CNV exudation and progressive retinal scarring; two satellite progressive fibrotic lesions were observed temporal to the macula"	""	"6y"	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297882"	"04214"	"00405334"	"00000"	"Familial, autosomal recessive"	""	"fundus (phenotype of viteliform lesion): ring-like deposition of yellowish material around the macula (multifocal lesions), optical coherence tomography central serous detachment with some hyperreflective material, electrooculography Arden ratio right/left eye: 1.7/1.5, electroretinography: normal"	"17y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297883"	"04214"	"00405335"	"00000"	"Familial, autosomal recessive"	""	"fundus (phenotype of viteliform lesion): bilateral vitelliform lesions in the posterior pole of the macula (single vitelliform lesion), optical coherence tomography hyperreflective material at the fovea, electrooculography Arden ratio right/left eye: 1.3/1.3"	"11y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297884"	"04214"	"00405336"	"00000"	"Familial, autosomal recessive"	""	"fundus (phenotype of viteliform lesion): bilateral vitelliform lesions in the posterior pole of the macula (single vitelliform lesion), optical coherence tomography hyperreflective material at the fovea, electrooculography Arden ratio right/left eye: 1.1/1.1"	"6y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297885"	"04214"	"00405337"	"00000"	"Familial, autosomal recessive"	""	"fundus (phenotype of viteliform lesion): multifocal vitelliform lesions, optical coherence tomography central serous detachment with some hyperreflective material, electrooculography Arden ratio right/left eye: 1.3/1.2"	"6y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297886"	"04214"	"00405338"	"00000"	"Familial, autosomal recessive"	""	"fundus (phenotype of viteliform lesion): multifocal vitelliform lesions, optical coherence tomography central serous detachment with some hyperreflective material, electrooculography Arden ratio right/left eye: 1.01/1.03, electroretinography: normal"	"15y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297887"	"04214"	"00405339"	"00000"	"Familial, autosomal recessive"	""	"fundus (phenotype of viteliform lesion): multifocal vitelliform lesions, optical coherence tomography central serous detachment with some hyperreflective material, electrooculography Arden ratio right/left eye: 1.06/1.01"	"11y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297888"	"04214"	"00405340"	"00000"	"Familial, autosomal dominant"	"16y"	"no history of ocular trauma or previous ocular inflammation; best-corrected visual acuity (BCVA) right, left eye: 0.04 (20/500) , 1.0 (20/20); intraocular pressure right/left eye: 16 / 18 mmHg; anterior segment: normal; fundus: bilateral, yellow macular lesions -  right eye lesion elevated and surrounded by a relatively fresh subretinal hemorrhage and fluid consistent with minimally active choroidal neovascularization (CNV) and relatively flat in the left eye; fluorescein angiography: central hyperfluorescent area surrounded by well-circumscribed hypofluorescence caused by the subretinal hemorrhage; left eye essentially normal; optical coherence tomography revealed a subretinal, hyperreflective lesion causing elevation of the neurosensory retina in the macular area; small, subretinal, hyperreflective area left eye, without retinal elevation; full field and pattern electroretinogram: responses reduced; electrooculography Arden ratio right/left eye: normal 3.06 / 3.66. Series of intravitreal ranibizumab (Lucentis) injections were planned; but presented late for the first injection and already developed subfoveal fibrosis surrounded by subretinal hemorrhage and fluid; after two intravitreal ranibizumab injections (0.05 ml/0.5 mg) 4 weeks apart, subjective improvement in vision and resolution of subretinal hemorrhage with a slight reduction in the subretinal fluid were noted; no vision improvement; last follow-up visit, 3 years after the injections, BCVA stable: 0.05 (20/400), 1.0 (20/20); subfoveal fibrosis right eye, left eye macular lesion remained the same"	"15y6m"	""	"progressive reduction in vision right eye for 6 months"	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297889"	"04214"	"00405341"	"00000"	"Familial, autosomal dominant"	"6y"	"best corrected visual acuity right, left eye: 20/80, 20/125, fundus: large-area, massive vitelliform lesion in the maculae, hypofluorescent on fundus autofuorescence; right macula: subretinal fibrosis; optical coherence tomography: retinal detachments in both eyes with raised fbrotic mounds in the center of the vitelliform lesion and abnormal, elongated photoreceptor outer segments; intraretinal fluid in both eyes"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297890"	"04214"	"00405342"	"00000"	"Familial, autosomal dominant"	"52y"	"best corrected visual acuity right, left eye: 20/100, 20/50, optical coherence tomography: thin photoreceptor layer in each eye, extensive subretinal serous fuid and probable vitelliform lesion"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297891"	"04214"	"00405343"	"00000"	"Familial, autosomal dominant"	"7y"	"best corrected visual acuity right, left eye: 20/25, 20/25, fundus and optical coherence tomography: standard boundaries-cleared yellowish vitelliform lesion in the macular area of both eyes, as well as subretinal serous fluid and retinal outer segment debris"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297892"	"04214"	"00405344"	"00000"	"Familial, autosomal dominant"	"61y"	"best corrected visual acuity right, left eye: 20/100, left eye no light perception due to previous intraocular trauma; fundus autofuorescence: hyperfluorescent vitelliform material in right eye, confirmed by optical coherence tomography; electrooculography testing: noisy background, decrease of light rise in both eyes"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297893"	"04214"	"00405345"	"00000"	"Familial, autosomal dominant"	"44y"	"best corrected visual acuity right, left eye: 20/50, 20/50fundus autofluorescence: hyperfluorescent yellowish subretinal vitelliform deposits in both maculae; electrooculography: loss of light rise"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297894"	"04214"	"00405346"	"00000"	"Familial, autosomal dominant"	"19y"	"best corrected visual acuity right, left eye: not available, not availablefundus autofluorescence: vitelliform lesion, serous retinal detachments and cystic fluid in both maculae areas"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297895"	"04214"	"00405347"	"00000"	"Familial, autosomal dominant"	"44y"	"disease stage right / left eye: vitelliform / preclinic, best corrected visual acuity right/left eye: 0.1 / 0, refraction: +0.25 / not available"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297896"	"04214"	"00405348"	"00000"	"Familial, autosomal dominant"	"34y"	"disease stage right / left eye: vitelliruptive / vitelliruptive, best corrected visual acuity right/left eye: 0 / 0, refraction: plan / not available"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297897"	"04214"	"00405349"	"00000"	"Familial, autosomal dominant"	"12y"	"disease stage right / left eye: vitelliruptive / vitelliruptive, best corrected visual acuity right/left eye: 0.62 / 0.1, refraction: +6.0 / +4.0"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297898"	"04214"	"00405350"	"00000"	"Familial, autosomal dominant"	"59y"	"disease stage right / left eye: vitelliruptive / vitelliruptive, best corrected visual acuity right/left eye: 0.88 / 0.5, refraction: +2.5 / +2.75"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297899"	"04214"	"00405351"	"00000"	"Familial, autosomal dominant"	"49y"	"disease stage right / left eye: vitelliruptive / atrophic, best corrected visual acuity right/left eye: 0.4 / 0.5, refraction: -1.5 / -1.25"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297900"	"04214"	"00405352"	"00000"	"Familial, autosomal dominant"	"55y"	"disease stage right / left eye: vitelliruptive / vitelliruptive, best corrected visual acuity right/left eye: 0.7 / 0.68, refraction: +2.0 / +2.0"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297901"	"04214"	"00405353"	"00000"	"Familial, autosomal dominant"	"23y"	"disease stage right / left eye: vitelliruptive / vitelliruptive, best corrected visual acuity right/left eye: 0.02 / 0, refraction: +1.25 / +4.0"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297902"	"04214"	"00405354"	"00000"	"Familial, autosomal dominant"	"61y"	"disease stage right / left eye: vitelliruptive / vitelliruptive, best corrected visual acuity right/left eye: 0.68 / 0.62, refraction: +4.0 / +4.0"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297903"	"04214"	"00405355"	"00000"	"Familial, autosomal dominant"	"32y"	"disease stage right / left eye: pseudohypopyon / pseudohypopyon, best corrected visual acuity right/left eye: 0.1 / 1.2, refraction: +0.25 / not available"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297904"	"04214"	"00405356"	"00000"	"Familial, autosomal dominant"	"60y"	"disease stage right / left eye: vitelliruptive / vitelliruptive"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297905"	"04214"	"00405357"	"00000"	"Familial, autosomal dominant"	"43y"	"disease stage right / left eye: vitelliruptive / vitelliruptive, best corrected visual acuity right/left eye: 1.3 / 0.3, refraction: +0.75 / +1.00"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297906"	"04214"	"00405358"	"00000"	"Familial, autosomal dominant"	"43y"	"disease stage right / left eye: vitelliruptive / vitelliruptive, best corrected visual acuity right/left eye: 0.2 / 0"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297907"	"04214"	"00405359"	"00000"	"Familial, autosomal dominant"	"57y"	"disease stage right / left eye: atrophic / vitelliruptive, best corrected visual acuity right/left eye: 1.3 / 0.6, refraction: -2.75 / -2.5"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297908"	"04214"	"00405360"	"00000"	"Familial, autosomal dominant"	"45y"	"disease stage right / left eye: pseudohypopyon / vitelliform, best corrected visual acuity right/left eye: 0.22 / 0.1, refraction: +0.50 / +0.50"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297909"	"04214"	"00405361"	"00000"	"Familial, autosomal recessive"	"10y"	"best corrected visual acuity right/left eye: (6/10)/(6/10), refraction (right eye/left eye)(diopters): +5.25(+1.25;125)/+6.25, axial length right/left eye: 19.49/19.19, full field electroretinography: reduced scotopic and photopic responses, electrooculography Arden ratio (%): 180"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297910"	"04214"	"00405362"	"00000"	"Familial, autosomal recessive"	"8y"	"best corrected visual acuity right/left eye: (6/10)/(6/10), refraction (right eye/left eye)(diopters): +3.50(+0.50; 140)/+3.75, axial length right/left eye: 20.43/20.55, full field electroretinography: reduced scotopic and photopic responses, electrooculography Arden ratio (%): 180"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297911"	"04214"	"00405363"	"00000"	"Familial, autosomal recessive"	"7y"	"best corrected visual acuity right/left eye: (7/10)/(7/10), refraction (right eye/left eye)(diopters): +2.00(-0.50;169)/+1.25 (-0.25;21), axial length right/left eye: 20.82/21.02, full field electroretinography: normal cone pathway responses but reduced rod responses, electrooculography Arden ratio (%):"	""	""	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""	""
"0000297917"	"04214"	"00405386"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297918"	"04214"	"00405387"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297919"	"04214"	"00405388"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297920"	"04214"	"00405389"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297921"	"04214"	"00405390"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297922"	"04214"	"00405391"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297923"	"04214"	"00405392"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297924"	"04214"	"00405393"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297925"	"04214"	"00405394"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297926"	"04214"	"00405395"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297927"	"04214"	"00405396"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297928"	"04214"	"00405397"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297929"	"04214"	"00405398"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297930"	"04214"	"00405399"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297931"	"04214"	"00405400"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297932"	"04214"	"00405401"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297933"	"04214"	"00405402"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297934"	"04214"	"00405403"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297935"	"04214"	"00405404"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297936"	"04214"	"00405405"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297937"	"04214"	"00405406"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297938"	"04214"	"00405407"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297939"	"04214"	"00405408"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297940"	"04214"	"00405409"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297941"	"04214"	"00405410"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297942"	"04214"	"00405411"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297943"	"04214"	"00405412"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297944"	"04214"	"00405413"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297945"	"04214"	"00405414"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297946"	"04214"	"00405415"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297947"	"04214"	"00405416"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297948"	"04214"	"00405417"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297949"	"04214"	"00405418"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297950"	"04214"	"00405419"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297951"	"04214"	"00405420"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297952"	"04214"	"00405421"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297953"	"04214"	"00405422"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297954"	"04214"	"00405423"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297955"	"04214"	"00405424"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297956"	"04214"	"00405425"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297957"	"04214"	"00405426"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297958"	"04214"	"00405427"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297965"	"04214"	"00405434"	"00000"	"Familial, autosomal dominant"	"35y"	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297986"	"04214"	"00405463"	"00000"	"Familial, autosomal recessive"	"34y"	"over 20 years of progressive vision loss; best corrected visual acuity right/left eye: 0.15 / 0.1; funduscopy: normal; fundus autofluorescence: annular hyperfluorescence around the posterior pole; optical coherence tomography: cystoid macular edema with subretinal fluid"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297987"	"04214"	"00405464"	"00000"	"Familial, autosomal recessive"	"36y"	"over 20 years of progressive vision loss; best corrected visual acuity: 0.1, ocular findings similar to the proband, shallower anterior chamber depth, angle closure; fundus autofluorescence: mild fluorescence leakage beneath the macula"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297988"	"04214"	"00405465"	"00000"	"Familial, autosomal recessive"	"32y"	"over 20 years of progressive vision loss; vitrectomy both eyes for retinal detachment; best corrected visual acuity: counting fingers"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297989"	"04214"	"00405466"	"00000"	"Familial, autosomal dominant"	"59y"	"best corrected visual acuity right/left eye: 0.2 / 0.2, electrooculography Arden ratio right/left eye: 1.1 / 1.3, right eye fullfield electroretinography: normal photopic amplitudes/peak times; multifocal electroretinography: normal / left eye fullfield electroretinography: normal photopic amplitudes/peak times; multifocal electroretinography: normal"	""	"59y"	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297990"	"04214"	"00405467"	"00000"	"Familial, autosomal dominant"	"50y"	"best corrected visual acuity right/left eye: 1 / 1.3, electrooculography Arden ratio right/left eye: 1.3 / 1.3, right eye fullfield electroretinography: normal photopic amplitudes/peak times / left eye fullfield electroretinography: normal photopic amplitudes/peak times"	""	"43y"	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297991"	"04214"	"00405468"	"00000"	"Familial, autosomal dominant"	"50y"	"best corrected visual acuity right/left eye: 0.3 / 0.1, electrooculography Arden ratio right/left eye: na / na, right eye fullfield electroretinography: normal photopic cone response / left eye fullfield electroretinography: normal photopic cone response"	""	"45y"	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297992"	"04214"	"00405469"	"00000"	"Familial, autosomal dominant"	"17y"	"best corrected visual acuity right/left eye: 0.7 / 0.4, electrooculography Arden ratio right/left eye: missing light peak / missing light peak"	""	"16y"	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000297993"	"04214"	"00405470"	"00000"	"Familial, autosomal recessive"	"6y"	"best corrected visual acuity right/left eye: 0.1 / 0.1, electrooculography Arden ratio right/left eye: missing light peak / missing light peak, right eye fullfield electroretinography: scotopic amplitudes reduced at higher flash intensities; multifocal electroretinography: central and paracentral amplitude reduction / left eye fullfield electroretinography: scotopic amplitudes reduced at higher flash intensities, photopic amplitudes reduced; multifocal electroretinography: central and paracentral amplitude reduction"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297994"	"04214"	"00405471"	"00000"	"Familial, autosomal recessive"	"47y"	"best corrected visual acuity right/left eye: -0.1 / -0.1, electrooculography Arden ratio right/left eye: 2.4 / 2.0, right eye fullfield electroretinography: normal; multifocal electroretinography: normal / left eye fullfield electroretinography: normal; multifocal electroretinography: normal"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297995"	"04214"	"00405472"	"00000"	"Familial, autosomal recessive"	"26y"	"best corrected visual acuity right/left eye: 0.3 / 0.3, electrooculography Arden ratio right/left eye: 1.3 / (normal) 1.3, right eye fullfield electroretinography: photopic normal latency and amplitude, scotpic normal latency, reduced amplitude; multifocal electroretinography: reduced central amplitudes / left eye fullfield electroretinography: photopic normal latency and amplitude, scotpic normal latency, reduced amplitude; multifocal electroretinography: reduced central amplitudes"	""	"24y"	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297996"	"04214"	"00405473"	"00000"	"Familial, autosomal recessive"	"53y"	"best corrected visual acuity right/left eye: 0 / 0, electrooculography Arden ratio right/left eye: 2.5 / 2.2"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297997"	"04214"	"00405474"	"00000"	"Familial, autosomal recessive"	"54y"	"best corrected visual acuity right/left eye: 0 / 0, electrooculography Arden ratio right/left eye: 2.7 / 2.2"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297998"	"04214"	"00405475"	"00000"	"Familial, autosomal recessive"	"38y"	"best corrected visual acuity right, left eye: 20/63, 20/200, refraction (diopters), spherical/cylinder:+1.00/-0.50, +1.25/-, electrooculography Arden ratio:1.2, electroretinography scotopic / photopic: normal / borderline"	"36y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000297999"	"04214"	"00405476"	"00000"	"Familial, autosomal recessive"	"45y"	"best corrected visual acuity right, left eye: 20/200, 20/25, refraction (diopters), spherical/cylinder:+0.75/-1.25, +0.00/-, electrooculography Arden ratio:not performed, electroretinography scotopic / photopic: not performed / not performed"	"30y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298000"	"04214"	"00405477"	"00000"	"Familial, autosomal recessive"	"17y"	"best corrected visual acuity right, left eye: 20/25, 20/25, refraction (diopters), spherical/cylinder:+0.25/-2.00, +1.00/-, electrooculography Arden ratio:1.0, electroretinography scotopic / photopic: normal / normal"	"17y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298001"	"04214"	"00405478"	"00000"	"Familial, autosomal recessive"	"34y"	"best corrected visual acuity right, left eye: 20/320, 20/400, refraction (diopters), spherical/cylinder:+0.50/-0.50, +0.25/-, electrooculography Arden ratio:1.1, electroretinography scotopic / photopic: reduced / reduced"	"18y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298002"	"04214"	"00405479"	"00000"	"Familial, autosomal recessive"	"68y"	"best corrected visual acuity right, left eye: 20/200, 20/500, refraction (diopters), spherical/cylinder:+7.00/-0.50, +7.00/-1.25, electrooculography Arden ratio:1.0, electroretinography scotopic / photopic: normal / reduced"	"30y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298003"	"04214"	"00405480"	"00000"	"Familial, autosomal recessive"	"58y"	"best corrected visual acuity right, left eye: 20/50, 20/200, refraction (diopters), spherical/cylinder:+4.25/-1.50, +4.75/-2.00, electrooculography Arden ratio:1.1, electroretinography scotopic / photopic: not performed / not performed"	"39y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298004"	"04214"	"00405481"	"00000"	"Familial, autosomal recessive"	"70y"	"best corrected visual acuity right, left eye: 20/800, 20/63, refraction (diopters), spherical/cylinder:+3.75/-1.00, +4.25/-2.00, electrooculography Arden ratio:not performed, electroretinography scotopic / photopic: reduced / reduced"	"50y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298005"	"04214"	"00405482"	"00000"	"Familial, autosomal recessive"	"46y"	"best corrected visual acuity right, left eye: 20/200, 20/80, refraction (diopters), spherical/cylinder:+7.25/-0.75, +7.75/-0.75, electrooculography Arden ratio:not performed, electroretinography scotopic / photopic: reduced / reduced"	"<18y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298006"	"04214"	"00405483"	"00000"	"Familial, autosomal recessive"	"24y"	"best corrected visual acuity right, left eye: 20/80, 20/200, refraction (diopters), spherical/cylinder:-1.75/-1.50, -1.75/-1.75, electrooculography Arden ratio:not performed, electroretinography scotopic / photopic: reduced / reduced"	"10y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298007"	"04214"	"00405484"	"00000"	"Familial, autosomal recessive"	"62y"	"best corrected visual acuity right, left eye: 20/25, 20/800z, refraction (diopters), spherical/cylinder:+4.00/-1.25, +4.50/-0.25, electrooculography Arden ratio:1.1, electroretinography scotopic / photopic: normal / normal"	"54y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298008"	"04214"	"00405485"	"00000"	"Familial, autosomal recessive"	"39y"	"best corrected visual acuity right, left eye: 20/200, 20/63, refraction (diopters), spherical/cylinder:+4.25/-0.75, +4.00/-0.75, electrooculography Arden ratio:1.0, electroretinography scotopic / photopic: reduced / reduced"	"<18y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298009"	"04214"	"00405486"	"00000"	"Familial, autosomal dominant"	"9y"	"distance best-corrected visual acuity right/left eye: 20/20, 20/25; anterior segment: normal; fundus: right eye: pale lesion in the macular area with a vitelliruptive appearance (stage 4), left eye: yellow-colored macular lesion with regular borders and a vitelliform aspect; optical coherence tomography angiography: high flow signal center in the vascular density and perfusion density both eyes: reduction of the foveal avascular zone area and perimeter right eye (left not quantified); electroretinogram: normal; electrooculography Arden ratio right/left eye: 88% / 90%"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298010"	"04214"	"00405487"	"00000"	"Familial, autosomal dominant"	"18y"	"distance best-corrected visual acuity right/left eye: 20/20, 20/25; anterior segment: normal; fundus: five-disc diameter size lesion in the macular area of both eyes with an accumulation of subretinal yellow material; right eye: pseudohypopyon appearance (stage 3), left eye: vitelliruptive appearance (stage 4). optical coherence tomography angiography: high flow signal center in the vascular density and perfusion density both eyes; reduction of the foveal avascular zone area and perimeter both eyes"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298011"	"04214"	"00405488"	"00000"	"Familial, autosomal dominant"	"36y"	"asymptomatic; uncorrected distance visual acuity 20/20 both eyes, normal anterior and posterior segment; other examinations: no abnormalities; optical coherence tomography angiography: high flow signal center in the vascular density and perfusion density both eyes; ); electroretinogram: normal; electrooculography Arden ratio right/left eye: 106% / 116%"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298020"	"04214"	"00405497"	"00000"	"Familial, autosomal recessive"	""	"best corrected visual acuity right; left eye: 1.30; 1.30"	"40y"	""	"reduced central vision, nyctalopia"	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298021"	"04214"	"00405498"	"00000"	"Familial, autosomal recessive"	""	"best corrected visual acuity right; left eye: 0.60; 0.80"	"10y"	""	"reduced central vision, slow dark adaptation, photosensitivity"	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298022"	"04214"	"00405499"	"00000"	"Familial, autosomal recessive"	""	"best corrected visual acuity right; left eye: counting fingers; 0.90, retinal detachment right eye"	"10y"	""	"reduced central vision, nyctalopia"	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298023"	"04214"	"00405500"	"00000"	"Familial, autosomal recessive"	""	"best corrected visual acuity right; left eye: 0.72; 0.84"	"10y"	""	"reduced central vision, slow dark adaptation"	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298024"	"04214"	"00405501"	"00000"	"Familial, autosomal recessive"	""	"best corrected visual acuity right; left eye: 0.64; 0.72, refraction: -3.50/-2.50 x 10; -2.75/-2.00 x175"	"10y"	""	"reduced central vision, slow dark adaptation"	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298025"	"04214"	"00405502"	"00000"	"Familial, autosomal recessive"	""	"best corrected visual acuity right; left eye: 0.50; 0.64, refraction: +2.25/-2.00 x 180; +1.75/-2.00 x 180"	">10y"	""	"reduced central vision, slow dark adaptation photosensitivity"	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298026"	"04214"	"00405503"	"00000"	"Familial, autosomal recessive"	""	"asymptomatic; best corrected visual acuity right; left eye: -0.12; 0.20, refraction: +4.00/-0.75 x 180; +5.00 DS, amblyopia and squint left eye, asthma"	"10y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298027"	"04214"	"00405504"	"00000"	"Familial, autosomal recessive"	""	"best corrected visual acuity right; left eye: 0.46; 0.92, refraction: -1.25/-1.00 x 35; -1.25/-1.50 x 155"	"30y"	""	"reduced central vision"	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298028"	"04214"	"00405505"	"00000"	"Familial, autosomal recessive"	""	"asymptomatic; best corrected visual acuity right; left eye: 0.10; 0.10, refraction: +2.50/-0.75 x 180; +2.50/-0.75 x"	">10y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298029"	"04214"	"00405506"	"00000"	"Familial, autosomal recessive"	""	"best corrected visual acuity right; left eye: 0.50; 0.58, refraction: -0.75/-1.25 x 084; -0.75/-1.25 x 086"	"10y"	""	"reduced central vision"	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298030"	"04214"	"00405507"	"00000"	"Familial, autosomal recessive"	""	"best corrected visual acuity right; left eye: 0.30; 0.50"	">10y"	""	"reduced central vision, slow dark adaptation,  photosensitivity"	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298031"	"04214"	"00405508"	"00000"	"Familial, autosomal recessive"	""	"best corrected visual acuity right; left eye: 1.24; 1.04, refraction: +5.00; +6.00"	">10y"	""	"reduced central vision, difficulties in the dark"	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298032"	"04214"	"00405509"	"00000"	"Familial, autosomal recessive"	""	"best corrected visual acuity right; left eye: 0.06; 0.80"	">10y"	""	"reduced central vision"	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298033"	"04214"	"00405510"	"00000"	"Familial, autosomal recessive"	""	"best corrected visual acuity right; left eye: 0.98; 0.52, amblyopia right eye"	"10y"	""	"photosensitivity, slow dark adaptation"	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298034"	"04214"	"00405511"	"00000"	"Familial, autosomal recessive"	""	"best corrected visual acuity right; left eye: 0.80; 0.62"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298035"	"04214"	"00405512"	"00000"	"Familial, autosomal dominant"	"44y"	"best corrected visual acuity right, left eye: 20/25, 20/20 in the left eye; refraction: +1.50 diopter (D) sphere both eyes; cornea and the lens transparent; fundus: bilateral multiple pigment sharply demarcated yellowish lesions in the macular region and along the upper retinal vascular arcade appearing hyperautofluoresent; optical coherence tomography confirmed lesions under the level of retinal epithelium; electrooculography Arden ratio below 130 in both eyes"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298050"	"04214"	"00405527"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298051"	"04214"	"00405528"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298052"	"04214"	"00405529"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298053"	"04214"	"00405530"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298054"	"04214"	"00405531"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298055"	"04214"	"00405532"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298056"	"04214"	"00405533"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298057"	"04214"	"00405534"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298058"	"04214"	"00405535"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298059"	"04214"	"00405536"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298060"	"04214"	"00405537"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298061"	"04214"	"00405538"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298062"	"04214"	"00405539"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298063"	"04214"	"00405540"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298064"	"04214"	"00405541"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298065"	"04214"	"00405542"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298066"	"04214"	"00405543"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298067"	"04214"	"00405544"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298068"	"04214"	"00405545"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298069"	"04214"	"00405546"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298070"	"04214"	"00405547"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298071"	"04214"	"00405548"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298072"	"04214"	"00405549"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298073"	"04214"	"00405550"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298074"	"04214"	"00405551"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298075"	"04214"	"00405552"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298076"	"04214"	"00405553"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298077"	"04214"	"00405554"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298078"	"04214"	"00405555"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298079"	"04214"	"00405556"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298080"	"04214"	"00405557"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298081"	"04214"	"00405558"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298082"	"04214"	"00405559"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298083"	"04214"	"00405560"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298084"	"04214"	"00405561"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298085"	"04214"	"00405562"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298086"	"04214"	"00405563"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298087"	"04214"	"00405564"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298088"	"04214"	"00405565"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298089"	"04214"	"00405566"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298090"	"04214"	"00405567"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298091"	"04214"	"00405568"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298092"	"04214"	"00405569"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298093"	"04214"	"00405570"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298094"	"04214"	"00405571"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298095"	"04214"	"00405572"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298096"	"04214"	"00405573"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298097"	"04214"	"00405574"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298098"	"04214"	"00405575"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298099"	"04214"	"00405576"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298100"	"04214"	"00405577"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298101"	"04214"	"00405578"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298102"	"04214"	"00405579"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298103"	"04214"	"00405580"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298104"	"04214"	"00405581"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298105"	"04214"	"00405582"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298106"	"04214"	"00405583"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298107"	"04214"	"00405584"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298108"	"04214"	"00405585"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298109"	"04214"	"00405586"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298110"	"04214"	"00405587"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298111"	"04214"	"00405588"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298112"	"04214"	"00405589"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298113"	"04214"	"00405590"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298114"	"04214"	"00405591"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298115"	"04214"	"00405592"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298116"	"04214"	"00405593"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298117"	"04214"	"00405594"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298118"	"04214"	"00405595"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298119"	"04214"	"00405596"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298120"	"04214"	"00405597"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298121"	"04214"	"00405598"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298122"	"04214"	"00405599"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298123"	"04214"	"00405600"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298124"	"04214"	"00405601"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298125"	"04214"	"00405602"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298126"	"04214"	"00405603"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298127"	"04214"	"00405604"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298128"	"04214"	"00405605"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298129"	"04214"	"00405606"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298130"	"04214"	"00405607"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298131"	"04214"	"00405608"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298132"	"04214"	"00405609"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298133"	"04214"	"00405610"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298134"	"04214"	"00405611"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298135"	"04214"	"00405612"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298136"	"04214"	"00405613"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298137"	"04214"	"00405614"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298138"	"04214"	"00405615"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298139"	"04214"	"00405616"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298140"	"04214"	"00405617"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298141"	"04214"	"00405618"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298142"	"04214"	"00405619"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298177"	"04214"	"00405674"	"00000"	"Familial, autosomal dominant"	"50y"	"disease stage right/left eye: 5 / 5, best corrected visual acuity right/left eye: 0.1 / 0.4"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298178"	"04214"	"00405675"	"00000"	"Familial, autosomal dominant"	"42y"	"disease stage right/left eye: 2 / 2, best corrected visual acuity right/left eye: 0 / 0"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298179"	"04214"	"00405676"	"00000"	"Familial, autosomal dominant"	"13y"	"disease stage right/left eye: 1 / 1, best corrected visual acuity right/left eye: 0.1 / 0.1"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298180"	"04214"	"00405677"	"00000"	"Familial, autosomal dominant"	"27y"	"disease stage right/left eye: 2 / 2, best corrected visual acuity right/left eye: 0 / 0.6"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298181"	"04214"	"00405678"	"00000"	"Familial, autosomal dominant"	"34y"	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298182"	"04214"	"00405679"	"00000"	"Familial, autosomal dominant"	"22y"	"disease stage right/left eye: 3 / 4, best corrected visual acuity right/left eye: 0 / 0.2"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298183"	"04214"	"00405680"	"00000"	"Familial, autosomal dominant"	"13y"	"disease stage right/left eye: 0 / 3, best corrected visual acuity right/left eye: 0 / 0.22"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298184"	"04214"	"00405681"	"00000"	"Familial, autosomal dominant"	"56y"	"disease stage right/left eye: 2 / 2, best corrected visual acuity right/left eye: 0.1 / 0.7"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298185"	"04214"	"00405682"	"00000"	"Familial, autosomal dominant"	"23y"	"disease stage right/left eye: 4 / 2, best corrected visual acuity right/left eye: 0.5 / 0"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298186"	"04214"	"00405683"	"00000"	"Familial, autosomal dominant"	"47y"	"disease stage right/left eye: 3 / 4, best corrected visual acuity right/left eye: 0.1 / 0.2"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298187"	"04214"	"00405684"	"00000"	"Familial, autosomal dominant"	"55y"	"disease stage right/left eye: 2 / 2"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298188"	"04214"	"00405685"	"00000"	"Familial, autosomal dominant"	"52y"	"disease stage right/left eye: 3 / 3, best corrected visual acuity right/left eye: 0.7 / 1"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298189"	"04214"	"00405686"	"00000"	"Familial, autosomal dominant"	"10y"	"disease stage right/left eye: 4 / 4, best corrected visual acuity right/left eye: 0 / 0"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298190"	"04214"	"00405687"	"00000"	"Familial, autosomal recessive"	"27y"	""	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298191"	"04214"	"00405688"	"00000"	"Familial, autosomal dominant"	"42y"	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298192"	"04214"	"00405689"	"00000"	"Familial, autosomal dominant"	"70y"	"disease stage right/left eye: 4 / 3, best corrected visual acuity right/left eye: 0.5 / 0"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298193"	"04214"	"00405690"	"00000"	"Familial, autosomal dominant"	"26y"	"disease stage right/left eye: 2 / 2, best corrected visual acuity right/left eye: 0.1 / 1"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298194"	"04214"	"00405691"	"00000"	"Familial, autosomal dominant"	"46y"	"disease stage right/left eye: 1 / 2, best corrected visual acuity right/left eye: 0.3 / 0.3"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298195"	"04214"	"00405692"	"00000"	"Familial, autosomal dominant"	"13y"	"disease stage right/left eye: 4 / 4"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298196"	"04214"	"00405693"	"00000"	"Familial, autosomal recessive"	"19y"	""	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298197"	"04214"	"00405694"	"00000"	"Familial, autosomal dominant"	"25y"	"disease stage right/left eye: 2 / 2, best corrected visual acuity right/left eye: 0.1 / 0"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298198"	"04214"	"00405695"	"00000"	"Familial, autosomal dominant"	"13y"	"disease stage right/left eye: 0 / 3, best corrected visual acuity right/left eye: 0 / 0.17"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298199"	"04214"	"00405696"	"00000"	"Familial, autosomal dominant"	"14y"	"disease stage right/left eye: 2 / 2, best corrected visual acuity right/left eye: 0.4 / 0"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298200"	"04214"	"00405697"	"00000"	"Familial, autosomal dominant"	"42y"	"disease stage right/left eye: 3 / 3, best corrected visual acuity right/left eye: 0.5 / 0.4"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298201"	"04214"	"00405698"	"00000"	"Familial, autosomal dominant"	"54y"	"disease stage right/left eye: 3 / 3, best corrected visual acuity right/left eye: 0.6 / 0.8"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298202"	"04214"	"00405699"	"00000"	"Familial, autosomal dominant"	"17y"	"disease stage right/left eye: 3 / 3, best corrected visual acuity right/left eye: 0.1 / 0.1"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298203"	"04214"	"00405700"	"00000"	"Familial, autosomal dominant"	"51y"	"disease stage right/left eye: 2 / 2, best corrected visual acuity right/left eye: 1 / 1"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298204"	"04214"	"00405701"	"00000"	"Familial, autosomal dominant"	"49y"	"disease stage right/left eye: 3 / 3, best corrected visual acuity right/left eye: 0.1 / 0"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298205"	"04214"	"00405702"	"00000"	"Familial, autosomal dominant"	"43y"	"disease stage right/left eye: 3 / 2, best corrected visual acuity right/left eye: 0.2 / 0.2"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298206"	"04214"	"00405703"	"00000"	"Familial, autosomal dominant"	"50y"	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298207"	"04214"	"00405704"	"00000"	"Familial, autosomal dominant"	"9y"	"disease stage right/left eye: 2 / 2, best corrected visual acuity right/left eye: 1 / 1"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298208"	"04214"	"00405705"	"00000"	"Familial, autosomal dominant"	"39y"	"disease stage right/left eye: 3 / 3, best corrected visual acuity right/left eye: 0.1 / 0.3"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298209"	"04214"	"00405706"	"00000"	"Familial, autosomal dominant"	"41y"	"disease stage right/left eye: 2 / 2, best corrected visual acuity right/left eye: 0.3 / 0.3"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298210"	"04214"	"00405707"	"00000"	"Familial, autosomal dominant"	"10y"	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298211"	"04214"	"00405708"	"00000"	"Familial, autosomal dominant"	"53y"	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298212"	"04214"	"00405709"	"00000"	"Familial, autosomal dominant"	"21y"	"best corrected visual acuity right/left eye: 0 / 0.6"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298221"	"04214"	"00405718"	"00000"	"Familial, autosomal dominant"	"39y"	"family history of pan-retinal rod-cone dystrophy; best-corrected visual acuity right, left eye: 6/36, 6/60; refraction: low hyperopia (OD +3.75, OS +4.00); fundus: bilateral total exudative retinal detachment; last recorded visual acuity before: 6/18, 6/36; investigations including serology for inflammatory, autoimmune, and infectious disease and a chest X-ray: negative. The patient was monitored using widefield fundus imaging and optical coherence tomography (Fig. 1, Fig. 2). fluorescein angiography: widespread accumulation of fluorescein related to the serous detachment with no other signs of a vascular event or focal exudative process; the retinal detachments resolved spontaneously within a week of cessation of creatine supplementation,visual acuity recovered to 6/30 in the right eye and 6/48 in the left"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298227"	"04214"	"00405730"	"00000"	"Familial, autosomal recessive"	"26y"	"best corrected visual acuity (BCVA) right, left eye: 20/2000, 20/40; intraocular pressure (IOP) 50 mmHg; remained around 30 after treatment, vision continued to decline, then BCVA right, left eye: counting fingers at 10, 20/600 in the left eye, IOP 25 / 31 mmHg; deep anterior chamber centrally but shallow peripherally without inflammation or posterior synechiae; clear lenses.; fundus: bilateral cup-to-disc ratio of 0.95, horizontal macular pucker with mild vascular tortuosity, and discrete, round, yellow-white deposits of variable sizes scattered throughout the macula and posterior pole; static gonioscopy: circumferential grade IV angle 2�3 clock hours open in each eye on dynamic gonioscopy; ultrasound biomicroscopy (UBM): angle closure in the setting of iris thickening and plateau iris-like configuration with an anteriorly rotated ciliary body and iris root; anterior chamber depth (ACD) right / left eye: 2.64 / 2.77 mm, axial length: 21.88 mm each eye; spectral domain optical coherence tomography (SD-OCT): cystoid macular edema associated with retinoschisis as well as increased reflectivity of the vitreoretinal interface in both eyes with pre-retinal tractional membranes; subfoveal choroid thickness: 401 ?m both eyes. Clear lens extraction with intraocular lens implantation and goniosynechialysis in the left eye with a higher IOP was perfomed; post-operative day 1 � BCVA 20/800, IOP 44 mmHg, unchanged ACD; malignant glaucoma suspected - Nd:YAG laser capsulotomy performed improvement in the patient�s condition; diode laser transscleral cyclophotocoagulation (TCP) � 1 day later IOP in the left eye decreased to 25 mmHg with BCVA improving to 20/667, day 4, IOP 15 mmHg, ACD: 3.014 mm; post-operative week 5, IOP: normal, ACD: 3.427 mm; UBM: increased space between the ciliary body and iris root with a moderate backward rotation of the ciliary body; TCP, the retinoschisis in the left eye resolved completely but with no improvement after lens extraction with intraocular lens implantation and goniosynechialysis. Right eye underwent combined phacoemulsification, intraocular lens implantation, and goniosynechialysis and had similarly improved;  fundus fluorescein angiography: scattered early hyperfluorescence in the mid-periphery around the arcades with no significant change in late stages, peripheral retina capillary leakage in late stage images; fundus autofluorescence: perifoveal hypo-autofluorescence in the right worse than left eye and hyper-autofluorescence in the posterior pole corresponding to the areas of hyperfluorescence seen on fundus fluorescein angiography; electrooculography: not possible; flash electroretinogram: decreased rod photoreceptor maximal reaction amplitude, cone � normal. 6m after TCP BCVA 20/250 both eyes, IOP 14-16 mmHg; ACD stable ~ 3.5 mm; no change in fundus, no recurrence of retinoschisis on OCT"	"25y"	""	"progressive bilateral blurred vision and ocular pain for the preceding 10 months"	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000298228"	"04214"	"00405731"	"00000"	"Familial, autosomal dominant"	""	"fundus:  retinal pigment epithelium atrophy and pigment disruption in the right eye, dome-shaped accumulation of yellowish material in the central macula of the left eye; hyperreflective materials with subretinal fluid in the subretinal space on optical coherence tomographic images"	"41y"	""	"decreased visual acuity right eye"	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298229"	"04214"	"00405732"	"00000"	"Familial, autosomal recessive"	""	"significant visual loss in both eyes at the age of 20 years; fundus: bilateral retinal pigment epithelium irregularities in the posterior pole with scattered yellowish flecks; neurosensory retinal detachment with subretinal fluid  in the left eye on an optical coherence tomography image"	"57y"	""	"decreased visual acuity left eye for 2 months"	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000298238"	"04214"	"00405741"	"00000"	"Familial, autosomal recessive"	"44y"	"corrected distance visual acuity: 0.32 / 0.2, optical coherence tomography: cystoid intra-retinal and serous subretinal fluid, electroretinography: moderate reduced response in both scotopic and photopic conditions, electrooculography: absent light peak"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298239"	"04214"	"00405742"	"00000"	"Familial, autosomal recessive"	"75y"	"corrected distance visual acuity: 0.4 both eyes, optical coherence tomography: very small sub-foveal deposits, electroretinography: not done, electrooculography: not done"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298240"	"04214"	"00405743"	"00000"	"Familial, autosomal recessive"	"50y"	"corrected distance visual acuity: 0.8 both eyes, optical coherence tomography: very small focal subretinal deposits, electroretinography: normal, electrooculography: absent light peak"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298241"	"04214"	"00405744"	"00000"	"Familial, autosomal recessive"	"48y"	"corrected distance visual acuity: 1.0 both eyes, optical coherence tomography: normal, electroretinography: normal, electrooculography: absent light peak"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298242"	"04214"	"00405745"	"00000"	"Familial, autosomal recessive"	"49y"	"corrected distance visual acuity: 1.0 both eyes, optical coherence tomography: normal, electroretinography: normal, electrooculography: absent light peak"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298243"	"04214"	"00405746"	"00000"	"Familial, autosomal recessive"	"53y"	"corrected distance visual acuity: 1.0 both eyes, optical coherence tomography: normal, electroretinography: normal, electrooculography: absent light peak"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298244"	"04214"	"00405747"	"00000"	"Familial, autosomal recessive"	"7y"	"corrected distance visual acuity: 0.4 both eyes, optical coherence tomography: not done, electroretinography: not done, electrooculography: not done"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298245"	"04214"	"00405748"	"00000"	"Familial, autosomal recessive"	"17y"	"corrected distance visual acuity: 0.16 / 0.25, optical coherence tomography: multiple yellowish, vitelliform deposits in the macula and along the vessel arcades exhibiting a pseudohypopyon appearance serous subretinal fluid, electroretinography: reduced photopic and scotopic responses left eye, normal right eye, whereas the multifocal erg was reduced centrally and paracentrally, electrooculography: reduced Arden ratio"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298246"	"04214"	"00405749"	"00000"	"Familial, autosomal recessive"	"28y"	"corrected distance visual acuity: 0.36 / 0.8, optical coherence tomography: hyperreflective subretinal deposits, as well as rpe detachment of retina affecting the macula, electroretinography: reduced scotopic and photopic responses, electrooculography: reduced Arden ratio"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298247"	"04214"	"00405750"	"00000"	"Familial, autosomal recessive"	"13y"	"corrected distance visual acuity: 0.1 / 0.32, optical coherence tomography: subretinal depositis and subretinal fluid, electroretinography: normal, electrooculography: reduced Arden ratio"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298248"	"04214"	"00405751"	"00000"	"Familial, autosomal recessive"	"35y"	"corrected distance visual acuity: 0.8 ,refraction: +2 ddc, optical coherence tomography: schisis subfoveal important, electroretinography: reduced scotopic and photopic responses, electrooculography: pathologic"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298249"	"04214"	"00405752"	"00000"	"Familial, autosomal recessive"	"29y"	"corrected distance visual acuity: 0.16 / 0.16, refraction: +6, optical coherence tomography: schisis, subretinal subfoveal fluid, electroretinography: within normal limits, electrooculography: not done"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298277"	"04214"	"00405780"	"00000"	"Familial, autosomal dominant"	"85y"	"20 years before death (65y): best corrected visual acuity: 20/200 both eyes;  lenses: trace nuclear sclerosis; intraocular pressure: were 18 mmHg both eyes; fundus: hypertrophic scar in the right eye, left eye: areas of hypopigmentation within the fovea; blurred vision in the right eye; this eye displayed a + 2 1/2 anterior cortical change; left eye: + 1 anterior cortical opacity; visual field: bilateral central scotomas"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298278"	"04214"	"00405781"	"00000"	"Familial, autosomal dominant"	"65y"	""	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298282"	"04214"	"00405785"	"00000"	"Familial, autosomal recessive"	"3y"	"photo-phobia, age at first visit (y): 3, right eye: phenotype I: characteristic for ARB: multiple fleck-like and often confluent yellow lesions involving the posterior pole and extending to the mid-periphery beyond the vascular arcades and nasal of the disc, best corrected visual acuity first/last visit: 0.3 / 0.5, refraction: +5.00/ -1.25; left eye: phenotype I: characteristic for ARB: multiple fleck-like and often confluent yellow lesions involving the posterior pole and extending to the mid-periphery beyond the vascular arcades and nasal of the disc best corrected visual acuity first/last visit: 0.5 / 0.6, refraction: +4.25/ -1.00"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298283"	"04214"	"00405786"	"00000"	"Familial, autosomal recessive"	"7y"	"blurred vision, age at first visit (y): 7, right eye: phenotype I: characteristic for ARB: multiple fleck-like and often confluent yellow lesions involving the posterior pole and extending to the mid-periphery beyond the vascular arcades and nasal of the disc, best corrected visual acuity first/last visit: 0.7 / 0.4 , refraction: -1.00/ -0.75; left eye: phenotype I: characteristic for ARB: multiple fleck-like and often confluent yellow lesions involving the posterior pole and extending to the mid-periphery beyond the vascular arcades and nasal of the disc, best corrected visual acuity first/last visit: 0.1 / 0.25, refraction: +/- 0.00/ -0.75"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298284"	"04214"	"00405787"	"00000"	"Familial, autosomal recessive"	"7y"	"blurred vision, age at first visit (y): 7, right eye: phenotype I: characteristic for ARB: multiple fleck-like and often confluent yellow lesions involving the posterior pole and extending to the mid-periphery beyond the vascular arcades and nasal of the disc, best corrected visual acuity first/last visit: 0.3 / -, refraction: +3.50/ -1.00; left eye: phenotype I: characteristic for ARB: multiple fleck-like and often confluent yellow lesions involving the posterior pole and extending to the mid-periphery beyond the vascular arcades and nasal of the disc, best corrected visual acuity first/last visit: 1.0/ - , refraction: +2.50/+/- 0.00"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298285"	"04214"	"00405788"	"00000"	"Familial, autosomal recessive"	"7y"	"blurred vision, age at first visit (y): 7, right eye: phenotype I: characteristic for ARB: multiple fleck-like and often confluent yellow lesions involving the posterior pole and extending to the mid-periphery beyond the vascular arcades and nasal of the disc , best corrected visual acuity first/last visit: 1.0 1.0 +0.25/ -1.50; left eye: phenotype I: characteristic for ARB: multiple fleck-like and often confluent yellow lesions involving the posterior pole and extending to the mid-periphery beyond the vascular arcades and nasal of the disc, best corrected visual acuity first/last visit: 1.0 1.0 , refraction: +0.75/ -1.75"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298286"	"04214"	"00405789"	"00000"	"Familial, autosomal recessive"	"8y"	"none, age at first visit (y): 8, right eye: phenotype I: characteristic for ARB: multiple fleck-like and often confluent yellow lesions involving the posterior pole and extending to the mid-periphery beyond the vascular arcades and nasal of the disc, best corrected visual acuity first/last visit: 1.0 / 1.0 , refraction: +3.75/ -1.25; left eye: phenotype I: characteristic for ARB: multiple fleck-like and often confluent yellow lesions involving the posterior pole and extending to the mid-periphery beyond the vascular arcades and nasal of the disc, best corrected visual acuity first/last visit: 1.0 / 1.0 , refraction: +3.75/ -1.25"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298287"	"04214"	"00405790"	"00000"	"Familial, autosomal recessive"	"9y"	"none, age at first visit (y): 9, right eye: phenotype V: two to four well-circumscribed lesions consistent with multifocal Best vitelliform macular dystrophy, best corrected visual acuity first/last visit: 1.0 / 1.2 , refraction: +1.00/ -0.50; left eye: phenotype V: two to four well-circumscribed lesions consistent with multifocal Best vitelliform macular dystrophy, best corrected visual acuity first/last visit: 1.0 / 0.8 , refraction: +0.75/ -0.75"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298288"	"04214"	"00405791"	"00000"	"Familial, autosomal recessive"	"10y"	"blurred vision, age at first visit (y): 10, right eye: phenotype I: characteristic for ARB: multiple fleck-like and often confluent yellow lesions involving the posterior pole and extending to the mid-periphery beyond the vascular arcades and nasal of the disc, best corrected visual acuity first/last visit: 0.2/ - , refraction: +3.75/ -0.50; left eye: phenotype I: characteristic for ARB: multiple fleck-like and often confluent yellow lesions involving the posterior pole and extending to the mid-periphery beyond the vascular arcades and nasal of the disc, best corrected visual acuity first/last visit: 0.4/ - , refraction: +4.00/ -1.00"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298289"	"04214"	"00405792"	"00000"	"Familial, autosomal recessive"	"20y"	"blurred vision, age at first visit (y): 20, right eye: phenotype II: multiple small fleck-like, mostly non-confluent, yellow lesions 0.4 / 0.4 , refraction: +2.50/ -0.50; left eye: phenotype II: multiple small fleck-like, mostly non-confluent, yellow lesions 0.25 / 0.16 , refraction: +3.00/ -0.25"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298290"	"04214"	"00405793"	"00000"	"Familial, autosomal recessive"	"21y"	"blurred vision, age at first visit (y): 21, right eye: phenotype II: multiple small fleck-like, mostly non-confluent, yellow lesions, best corrected visual acuity first/last visit: 0.5 / 0.4 , refraction: +0.25/ -2.00; left eye: phenotype II: multiple small fleck-like, mostly non-confluent, yellow lesions, best corrected visual acuity first/last visit: 0.4 / 0.3 , refraction: -0.25/ -1.00"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298291"	"04214"	"00405794"	"00000"	"Familial, autosomal recessive"	"25y"	"blurred vision, night blindness, age at first visit (y): 25, right eye: phenotype I: characteristic for ARB: multiple fleck-like and often confluent yellow lesions involving the posterior pole and extending to the mid-periphery beyond the vascular arcades and nasal of the disc, best corrected visual acuity first/last visit: 0.5 / 0.2 , refraction: +1.00/ -0.75; left eye: phenotype I: characteristic for ARB: multiple fleck-like and often confluent yellow lesions involving the posterior pole and extending to the mid-periphery beyond the vascular arcades and nasal of the disc, best corrected visual acuity first/last visit: 0.6 / 0.2 , refraction: +1.00/+/-0.00"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298292"	"04214"	"00405795"	"00000"	"Familial, autosomal recessive"	"25y"	"blurred vision, age at first visit (y): 25, right eye: phenotype IV: either one lesion at the posterior pole resembling unifocal Best vitelliform macular dystrophy (BVMD) with multifocal BVMD, best corrected visual acuity first/last visit: 0.8 / 0.125 , refraction: -3.25/ -0.25; left eye: phenotype IV: either one lesion at the posterior pole resembling unifocal Best vitelliform macular dystrophy (BVMD) with multifocal BVMD, best corrected visual acuity first/last visit: 0.8 / 0.2 , refraction: -1.75/ -1.00"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298293"	"04214"	"00405796"	"00000"	"Familial, autosomal recessive"	"26y"	"none, age at first visit (y): 26, right eye: phenotype I: characteristic for ARB: multiple fleck-like and often confluent yellow lesions involving the posterior pole and extending to the mid-periphery beyond the vascular arcades and nasal of the disc, best corrected visual acuity first/last visit: 1.0 / 1.0 , refraction: +/-0; left eye: phenotype I: characteristic for ARB: multiple fleck-like and often confluent yellow lesions involving the posterior pole and extending to the mid-periphery beyond the vascular arcades and nasal of the disc , , best corrected visual acuity first/last visit: 1.0 / 1.0 refraction: +/-0"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298294"	"04214"	"00405797"	"00000"	"Familial, autosomal recessive"	"28y"	"blurred vision, age at first visit (y): 28, right eye: phenotype II: multiple small fleck-like, mostly non-confluent, yellow lesions, best corrected visual acuity first/last visit: 0.16 / 0.1 , refraction: -1.00/ -1.00; left eye: phenotype II: multiple small fleck-like, mostly non-confluent, yellow lesions, best corrected visual acuity first/last visit: 0.1 / 0.05 -, refraction: 1.25/ -0.75"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298295"	"04214"	"00405798"	"00000"	"Familial, autosomal recessive"	"30y"	"blurred vision, age at first visit (y): 30, right eye: phenotype II: multiple small fleck-like, mostly non-confluent, yellow lesions, best corrected visual acuity first/last visit: 0.3 /0.25 , refraction: +4.50/−3.25; , left eye: phenotype II: multiple small fleck-like, mostly non-confluent, yellow lesions 0.08 / 0.05 , refraction: +6.00/−"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298296"	"04214"	"00405799"	"00000"	"Familial, autosomal recessive"	"33y"	"night blindness, age at first visit (y): 33, right eye: phenotype II: multiple small fleck-like, mostly non-confluent, yellow lesions, multiple fleck-like and often confluent yellow lesions involving the posterior pole and extending to the mid-periphery beyond the vascular arcades and nasal of the disc, best corrected visual acuity first/last visit: 0.05 / 0.08 , refraction: +0.75/±0.00; left eye: phenotype II, left eye: , best corrected visual acuity first/last visit: 0.02 / 0.1 , refraction: +2.25/−0"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298297"	"04214"	"00405800"	"00000"	"Familial, autosomal recessive"	"46y"	"blurred vision, age at first visit (y): 46, right eye: phenotype V: two to four well-circumscribed lesions consistent with multifocal Best vitelliform macular dystrophy , best corrected visual acuity first/last visit: 0.6/ - , refraction: +4.00/−1.25; , left eye: phenotype I: characteristic for ARB: multiple fleck-like and often confluent yellow lesions involving the posterior pole and extending to the mid-periphery beyond the vascular arcades and nasal of the disc, best corrected visual acuity first/last visit: 0.2/ - , refraction: +4.25/−"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298298"	"04214"	"00405801"	"00000"	"Familial, autosomal recessive"	"50y"	"blurred vision, age at first visit (y): 50, right eye: phenotype I: characteristic for ARB: multiple fleck-like and often confluent yellow lesions involving the posterior pole and extending to the mid-periphery beyond the vascular arcades and nasal of the disc, best corrected visual acuity first/last visit: 0.5 / 0.3 , refraction: +3.25/−0.50; left eye: phenotype I, best corrected visual acuity first/last visit: 0.5 / 0.4 , refraction: +4.00/−"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298299"	"04214"	"00405802"	"00000"	"Familial, autosomal recessive"	"50y"	"blurred vision, age at first visit (y): 50, right eye: phenotype V: two to four well-circumscribed lesions consistent with multifocal Best vitelliform macular dystrophy , best corrected visual acuity first/last visit: 0.1 / 0.125 , refraction: +1.5/−0."	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298305"	"04214"	"00405808"	"00000"	"Familial, autosomal recessive"	"29y"	"cystoid macular edema and subretinal fluid accumulation; best corrected visual acuity at first visit right, left eye: 20/29, 20/33, 5 and 7 months later 20/40 both eyes; intraocular pressure: normal; anterior chamber depth and anterior chamber angles: normal; no microcornea, cataract, or staphyloma; fundus: yellowish macular lesions; fundus autofluorescence: hyper signals corresponding to the yellowish lesions; fundus fluorescein angiography: no vessel leaks"	""	""	"reduced vision in both eyes"	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298306"	"04214"	"00405809"	"00000"	"Familial, autosomal recessive"	"29y"	"cystoid macular edema and subretinal fluid accumulation; best corrected visual acuity at first visit right, left eye: 20/25, 20/66, 7 months later unchanged; intraocular pressure: normal; anterior chamber depth and anterior chamber angles: normal; no microcornea, cataract, or staphyloma; fundus: yellowish macular lesions; full-field electroretinography test results indicated reduced amplification (subnormal)"	""	""	"reduced vision in both eyes"	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298403"	"04214"	"00405906"	"00000"	"Familial, autosomal recessive"	"55y"	"best corrected visual acuity right, left eye: 20/25, 20/20; intraocular pressure:14mmHg both eyes; anterior segment only showed an early phacosclerosis; the patient had iridotomies performed in both eyes due to shallow anterior chamber depth. Ophthalmoscopy: perifoveal yellow flecked-like lesions in both eyes; electrooculography, fluorescein angiography, and fundus autofluorescence results consistent with pattern dystrophy; optic coherence tomography: cupuliform lesion in both foveae with microcysts alongside; electrooculography: abnormalities since the beginning of the dark initial value (140.6 µV right and 132.8 µV left eye), time to light peak: 3\' right, 2\' left eye; Arden index right/left eye: 1.29 / 1.22; electroretinography: normal response in rods, discrete alterations in cones as well as in combined rod-cone respon"	""	""	"gradual bilateral decrease of visual acuity over several months"	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000298405"	"04214"	"00405909"	"00000"	"Familial, autosomal dominant"	"62y"	"refraction history: +6.50 diopter [Ds] right eye, +4.75 left eye, mild amblyopia left eye, and an abnormal macular appearance right eye (28y). Electrooculogram Arden ratio right/left eye: 1.2 / 1.41; no family history of Best disease glaucoma in mother; adult-onset diabetes; best-corrected visual acuities at distance right, left eye: 20/40, 20/40 + 1; applanation tension right/left eye: 26 / 22 mmHg; anterior segment: normal; funduscopy right eye: normal-appearing optic disk and retinal vasculature, retinal pigment epithelium (RPE) hypopigmentation in the central macula beneath a shallow serous retinal detachment, small flat choroidal nevus temporal to the fovea; no evidence of hemorrhage peripheral right eye unremarkable but for a few scattered microaneurysms consistent with mild nonproliferative diabetic retinopathy; funduscopy left eye: normal, peripheral examination: mild nonproliferative diabetic retinopathy; optical coherence tomography: normal; fluorescein angiography: right eye central staining in the area of the RPE hypopigmentation, left eye: normal; fundus autofluorescence: right eye - large zone of central hypoautofluorescence surrounded by a ring of hyperautofluorescence, left eye � normal; Both the fluorescein angiography and fundus autofluorescence of the left eye appeared normal (Figure 2). Indocyanine green angiography: normal; optical coherence tomography�angiography right eye: reduced choriocapillaris flow without neovascularization. left eye - normal"	""	""	"blurring of her vision in both eyes, worse in the left eye"	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298410"	"04214"	"00405913"	"00000"	"Familial, autosomal recessive"	"6y"	"right eye: best corrected visual acuity (BCVA): 20/32, refraction: +1.00 +1.50 x 82, electrooculography Arden ratio: 1.8, color vision score (axis):11/15 (D15, nonspecific), axial length (mm)22,17, intraocular pressure: 15, cup-to-disk ratio: 0,4; left eye: BCVA: 20/80, refraction: +1.00 +1.75 x 90, electrooculography Arden ratio: 0.88, color vision score (axis):13/15 (D15, nonspecific), axial length (mm)22,46, intraocular pressure: 15, cup-to-disk ratio: 0,4"	"5y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000298411"	"04214"	"00405914"	"00000"	"Familial, autosomal recessive"	"44y"	"right eye: best corrected visual acuity (BCVA): 20/320, refraction: +0.75 +2.50 x 180, electrooculography Arden ratio: 1.64, color vision score (axis):1/15 (D15, Tritan), axial length (mm)21,35, intraocular pressure: 11, cup-to-disk ratio: 0,4; left eye: BCVA: 20/320, refraction: +3.25 +2.25 x 13, electrooculography Arden ratio: not available, color vision score (axis):1/15 (D15, Tritan), axial length (mm)21,11, intraocular pressure: 11, cup-to-disk ratio: 0,5"	"3y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000298412"	"04214"	"00405915"	"00000"	"Familial, autosomal recessive"	"39y"	"right eye: best corrected visual acuity (BCVA): 20/200, refraction: +2.00 +1.23 x 112, color vision score (axis):3/15 (D15, Tritan), axial length (mm)21,4, intraocular pressure: 15, cup-to-disk ratio: 0,2; left eye: BCVA: 20/640, refraction: +2.75 +1.25 x 32, color vision score (axis):2/15 (D15, Tritan), axial length (mm)21,73, intraocular pressure: 16, cup-to-disk ratio: 0,2"	"4y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000298413"	"04214"	"00405916"	"00000"	"Familial, autosomal recessive"	"24y"	"right eye: best corrected visual acuity (BCVA): 20/125, refraction: -2.00 Sph, intraocular pressure: 15, cup-to-disk ratio: 1; left eye: BCVA: 20/800, refraction: Sph Plano, intraocular pressure: 17, cup-to-disk ratio: 0,3"	"12y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000298414"	"04214"	"00405917"	"00000"	"Familial, autosomal recessive"	"32y"	"right eye: best corrected visual acuity (BCVA): 20/80, refraction: -0.75 +1.75 x 5, electrooculography Arden ratio: 1.12, color vision score (axis):12/16 (Ishihara), axial length (mm)21,11, intraocular pressure: 40 (22*), cup-to-disk ratio: 0,6; left eye: BCVA: 20/100, refraction: -0.25 +1.50 x 10, electrooculography Arden ratio: 1.11, color vision score (axis):11/16 (Ishihara), axial length (mm)20,84, intraocular pressure: 15, cup-to-disk ratio: 0,5"	"30y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000298415"	"04214"	"00405918"	"00000"	"Familial, autosomal recessive"	"26y"	"right eye: best corrected visual acuity (BCVA): 20/50, refraction: -1.25 +1.75 x 101, electrooculography Arden ratio: 1.14, color vision score (axis):12/15 (D15, Tritan), axial length (mm)21.31 (2.15), intraocular pressure: 20, cup-to-disk ratio: 0,6; left eye: BCVA: 20/40, refraction: -0.50 +1.25 x 94, electrooculography Arden ratio: 1.21, color vision score (axis):9/15 (D15, Tritan), axial length (mm)21.14 (2.47), intraocular pressure: 13, cup-to-disk ratio: 0,6"	"4y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000298416"	"04214"	"00405919"	"00000"	"Familial, autosomal recessive"	"9y"	"right eye: best corrected visual acuity (BCVA): 20/20, refraction: +0.50 -0.50 x 168, color vision score (axis):9/15 (D15, nonspecific), axial length (mm)22.4 (3.44), intraocular pressure: 21, cup-to-disk ratio: 0,3; left eye: BCVA: 20/50, refraction: +0.50 -0.25 x 47, color vision score (axis):13/15 (D15, nonspecific), axial length (mm)22.8 (3.17), intraocular pressure: 20, cup-to-disk ratio: 0,3"	"9y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000298417"	"04214"	"00405920"	"00000"	"Familial, autosomal recessive"	"10y"	"right eye: best corrected visual acuity (BCVA): 20/25, refraction: +3.75 -0.75 x 147, color vision score (axis):11/15 (D15, nonspecific), axial length (mm)21.05 (3.00), intraocular pressure: 17, cup-to-disk ratio: 0,3; left eye: BCVA: 20/20, refraction: +3.50 -0.75 x 38, color vision score (axis):15/15, axial length (mm)21.04 (2.92), intraocular pressure: 16, cup-to-disk ratio: 0,3"	"10y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000298418"	"04214"	"00405921"	"00000"	"Familial, autosomal recessive"	"23y"	"right eye: best corrected visual acuity (BCVA): 20/320, refraction: -4.50 +2.25 x 97, intraocular pressure: 14, cup-to-disk ratio: ; left eye: BCVA: 20/200, refraction: -4.50 +0.50 x 170, intraocular pressure: 25, cup-to-disk ratio:"	"23y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000298419"	"04214"	"00405922"	"00000"	"Familial, autosomal recessive"	"60y"	"right eye: best corrected visual acuity (BCVA): 20/300, refraction: +10.50 sph, intraocular pressure: 17, cup-to-disk ratio: 0,3; left eye: BCVA: 20/150, refraction: +10.50 sph, electrooculography Arden ratio: , color vision score (axis):, axial length (mm), intraocular pressure: 14, cup-to-disk ratio: 0,3"	"31y"	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000298420"	"04214"	"00405923"	"00000"	"Familial, autosomal dominant"	"50y"	"age at first visit (y): 50, follow-up period (y): 5, stage right eye during first visit: 3, stage right eye during last visit: 3"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298421"	"04214"	"00405924"	"00000"	"Familial, autosomal dominant"	"57y"	"age at first visit (y): 43, follow-up period (y): 14, stage right eye during first visit: 5, stage right eye during last visit: 5"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298422"	"04214"	"00405925"	"00000"	"Familial, autosomal dominant"	"35y"	"age at first visit (y): 35, follow-up period (y): 1, stage right eye during first visit: 2, stage right eye during last visit: 2"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298423"	"04214"	"00405926"	"00000"	"Familial, autosomal dominant"	"37y"	"age at first visit (y): 23, follow-up period (y): 14, stage right eye during first visit: 2, stage right eye during last visit: 2"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298424"	"04214"	"00405927"	"00000"	"Familial, autosomal dominant"	"26y"	"age at first visit (y): 22, follow-up period (y): 4, stage right eye during first visit: 4, stage right eye during last visit: 5"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298425"	"04214"	"00405928"	"00000"	"Familial, autosomal dominant"	"54y"	"age at first visit (y): 47, follow-up period (y): 7, stage right eye during first visit: 5, stage right eye during last visit: 5"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298426"	"04214"	"00405929"	"00000"	"Familial, autosomal dominant"	"35y"	"age at first visit (y): 35, follow-up period (y): 0, stage right eye during first visit: 4, stage right eye during last visit: 4"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298427"	"04214"	"00405930"	"00000"	"Familial, autosomal dominant"	"48y"	"age at first visit (y): 48, follow-up period (y): 0, stage right eye during first visit: 4, stage right eye during last visit: 4"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298428"	"04214"	"00405931"	"00000"	"Familial, autosomal dominant"	"60y"	"age at first visit (y): 60, follow-up period (y): 0, stage right eye during first visit: 4, stage right eye during last visit: 4"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298429"	"04214"	"00405932"	"00000"	"Familial, autosomal dominant"	"25y"	"age at first visit (y): 20, follow-up period (y): 5, stage right eye during first visit: 2, stage right eye during last visit: 4"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298430"	"04214"	"00405933"	"00000"	"Familial, autosomal dominant"	"34y"	"age at first visit (y): 29, follow-up period (y): 5, stage right eye during first visit: 5, stage right eye during last visit: 4"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298431"	"04214"	"00405934"	"00000"	"Familial, autosomal dominant"	"30y"	"age at first visit (y): 30, follow-up period (y): 0, stage right eye during first visit: 5, stage right eye during last visit: 4"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298432"	"04214"	"00405935"	"00000"	"Familial, autosomal dominant"	"60y"	"age at first visit (y): 55, follow-up period (y): 5, stage right eye during first visit: 5, stage right eye during last visit: 5"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298433"	"04214"	"00405936"	"00000"	"Familial, autosomal dominant"	"51y"	"age at first visit (y): 40, follow-up period (y): 11, stage right eye during first visit: 5, stage right eye during last visit: 3"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298434"	"04214"	"00405937"	"00000"	"Familial, autosomal dominant"	"45y"	"age at first visit (y): 45, follow-up period (y): 0, stage right eye during first visit: 5, stage right eye during last visit: 5"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298435"	"04214"	"00405938"	"00000"	"Familial, autosomal dominant"	"52y"	"age at first visit (y): 52, follow-up period (y): 0, stage right eye during first visit: 5, stage right eye during last visit: 5"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298436"	"04214"	"00405939"	"00000"	"Familial, autosomal recessive"	"44y"	"age at first visit (y): 40, follow-up period (y): 4, stage right eye during first visit: 3, stage right eye during last visit: 3"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000298437"	"04214"	"00405940"	"00000"	"Familial, autosomal dominant"	"76y"	"age at first visit (y): 71, follow-up period (y): 5, stage right eye during first visit: 5, stage right eye during last visit: 5"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298438"	"04214"	"00405941"	"00000"	"Unknown"	"58y"	"age at first visit (y): 53, follow-up period (y): 5, stage right eye during first visit: 2, stage right eye during last visit: 1"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298439"	"04214"	"00405942"	"00000"	"Familial, autosomal dominant"	"45y"	"age at first visit (y): 36, follow-up period (y): 9, stage right eye during first visit: 4, stage right eye during last visit: 4"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298440"	"04214"	"00405943"	"00000"	"Familial, autosomal dominant"	"28y"	"age at first visit (y): 28, follow-up period (y): 0, stage right eye during first visit: 1, stage right eye during last visit: 1"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298441"	"04214"	"00405944"	"00000"	"Familial, autosomal recessive"	"37y"	"age at first visit (y): 35, follow-up period (y): 2"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000298442"	"04214"	"00405945"	"00000"	"Familial, autosomal recessive"	"37y"	"age at first visit (y): 28, follow-up period (y): 9, stage right eye during first visit: 5, stage right eye during last visit: 5"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000298443"	"04214"	"00405946"	"00000"	"Familial, autosomal dominant"	"53y"	"age at first visit (y): 52, follow-up period (y): 2"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298444"	"04214"	"00405947"	"00000"	"Familial, autosomal dominant"	"56y"	"age at first visit (y): 56, follow-up period (y): 1, stage right eye during first visit: 2, stage right eye during last visit: 2"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298445"	"04214"	"00405948"	"00000"	"Familial, autosomal dominant"	"46y"	"age at first visit (y): 42, follow-up period (y): 4, stage right eye during first visit: 4, stage right eye during last visit: 4"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298446"	"04214"	"00405949"	"00000"	"Familial, autosomal recessive"	"36y"	"age at first visit (y): 36, follow-up period (y): 0"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000298447"	"04214"	"00405950"	"00000"	"Familial, autosomal recessive"	"17y"	"age at first visit (y): 16, follow-up period (y): 2"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000298448"	"04214"	"00405951"	"00000"	"Familial, autosomal dominant"	"57y"	"age at first visit (y): 49, follow-up period (y): 8, stage right eye during first visit: 3, stage right eye during last visit: 5"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298449"	"04214"	"00405952"	"00000"	"Familial, autosomal recessive"	"54y"	"age at first visit (y): 44, follow-up period (y): 10"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000298450"	"04214"	"00405953"	"00000"	"Familial, autosomal dominant"	"51y"	"age at first visit (y): 50, follow-up period (y): 1, stage right eye during first visit: 1, stage right eye during last visit: 1"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298455"	"04214"	"00405957"	"00000"	"Familial, autosomal dominant"	"76y"	"best-corrected visual acuity right, left eye: 20/30, 20/80; anterior segment: normal; fundoscopy: multifocal, subretinal vitelliform lesions in the macula and peripapillary region, multiple irregular spoke-like lines that radiated from the optic nerve, consistent with angioid streaks, and an adjacent focus of intraretinal hemorrhage inferonasal to the optic nerve; left eye - central area of atrophy and a well-defined homogeneous subretinal vitelliform lesion inferior to the fovea, along with peripapillary subretinal lesions and circumpapillary angioid streak-like changes; short-wavelength fundus autofluorescence (SW-FAF): both eyes hyper-autofluorescence of the central vitelliform lesions extending into the peripapillary region, radially oriented hypo-autofluorescent angioid streak-like changes; spectral-domain optical coherence tomography (SD-OCT) right eye: subretinal hyperreflective material and subretinal fluid, breaks in Bruch’s membrane consistent with angioid streak-like changes; fluorescein angiogray: no leakage, indocyanine green: no neovascularization; OCT angiography – no neovascular membrane (not shown); systemic malignancy was ruled out; full-field electroretinogram: normal; electrooculogram: abnormally reduced Arden ratio (0.86 / 1.26), which suggested the possibility of an adult onset BEST1-associated inherited retinal degeneration"	""	""	"worsening visual distortion in both eyes over the last 2 years"	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298456"	"04214"	"00405958"	"00000"	"Familial, autosomal dominant"	"69y"	"best-corrected visual acuity each eye: 20/50 in each eye; anterior segment: normal; fundoscopy: multiple yellowish lesions along with several spoke-like lines that radiated from the optic nerve, consistent with angioid streak-like changes, in both eyes (Patient 2; Figures 2a and 2b). spectral-domain optical coherence tomography: subretinal hyperreflective material, no subretinal fluid; breaks in Bruch’s membrane consistent with angioid streak-like chang"	""	""	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000298458"	"04214"	"00405960"	"00000"	"Familial, autosomal recessive"	"10y"	"best corrected visual acuity right, left eye: 7/10, 6/10, refraction right/left eye: +2.75-0.5 x180 / +2.5-1.00 x180, electrooculography Arden ratio right/left eye: 101 / 103, electroretinography: normal, retinal schisis unrelated to choroidal neovascularization: , optical coherence tomography - subretinal hyporeflective space in fovea: both ey"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000298459"	"04214"	"00405961"	"00000"	"Familial, autosomal recessive"	"5y"	"best corrected visual acuity right, left eye: 7/10, 6/10, refraction right/left eye: +4.5 / +4.25-0.75 x 60 / , electroretinography: normal, both eyes: thick choroid, retinal schisis unrelated to choroidal neovascularization: both eyes, inner nuclear layer, optical coherence tomography - subretinal hyporeflective space in fovea: both eyes"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000298460"	"04214"	"00405962"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000298461"	"04214"	"00405963"	"00000"	"Familial, autosomal recessive"	"32y"	"best corrected visual acuity right, left eye: 2/10, 2/10, refraction right/left eye: +2.75-0.75 x180 / +2.50, electrooculography Arden ratio right/left eye: 108 / 112, electroretinography: normal, both eyes: thick choroid, severe, retinal schisis unrelated to choroidal neovascularization: both eyes/inner nuclear layer, outer nuclear layer, optical coherence tomography - subretinal hyporeflective space in fovea: both eyes, angle-closure glaucoma treatment: latanoprost, fine peripheral leakage in fundus autofluorescence"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000298462"	"04214"	"00405964"	"00000"	"Familial, autosomal recessive"	"11y"	"best corrected visual acuity right, left eye: 7/10, 5/10, refraction right/left eye: +3.50-3.00 x180 / +2.75-1.25 x180, electrooculography Arden ratio right/left eye: 121 / 117, electroretinography: normal, both eyes: thick choroid, retinal schisis unrelated to choroidal neovascularization: both eyes/inner nuclear layer, outer nuclear layer, optical coherence tomography - subretinal hyporeflective space in fovea: both eyes, angle-closure glaucoma treatment: timolol"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000298463"	"04214"	"00405965"	"00000"	"Familial, autosomal recessive"	"27y"	"best corrected visual acuity right, left eye: 5/10, 5/10, refraction right/left eye: +1.50-0.75 x180 / +1.5-0.5 x180, electrooculography Arden ratio right/left eye: 108 / 105, electroretinography: mildly reduced responses, both eyes: thick choroid, retinal schisis unrelated to choroidal neovascularization: both eyes/inner nuclear layer, outer nuclear layer, optical coherence tomography - subretinal hyporeflective space in fovea: both eyes"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000298464"	"04214"	"00405966"	"00000"	"Familial, autosomal recessive"	"12y"	"best corrected visual acuity right, left eye: 7/10, 3/10, refraction right/left eye: +4.5-0.5 x 50 / +5.00-0.5 x110, electrooculography Arden ratio right/left eye: 102 / 102, electroretinography: normal, both eyes: thick choroid, retinal schisis unrelated to choroidal neovascularization: both eyes/inner nuclear layer, optical coherence tomography - subretinal hyporeflective space in fovea: both eyes, subfoveal scar in right eye compatible with fibrotic pill"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000298465"	"04214"	"00405967"	"00000"	"Familial, autosomal recessive"	"7y"	"best corrected visual acuity right, left eye: 6/10, 6/10, refraction right/left eye: +5.75-1.25 x10 / +5.75-1 x 170 / , electroretinography: normal, both eyes: thick choroid, severe, retinal schisis unrelated to choroidal neovascularization: both eyes, inner nuclear layer, optical coherence tomography - subretinal hyporeflective space in fovea: both eyes"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000298466"	"04214"	"00405968"	"00000"	"Familial, autosomal recessive"	"12y"	"best corrected visual acuity right, left eye: 2/10, 4/10, refraction right/left eye: +3.50-3.00 x170 / +2.75-2.00 x170, electrooculography Arden ratio right/left eye: 110 / 124, electroretinography: normal, both eyes: thick choroid, retinal schisis unrelated to choroidal neovascularization: both eyes/inner nuclear layer, outer nuclear layer, optical coherence tomography - subretinal hyporeflective space in fovea: both eyes, subfoveal scar in right eye compatible with fibrotic pillar"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000298467"	"04214"	"00405969"	"00000"	"Familial, autosomal recessive"	"28y"	"best corrected visual acuity right, left eye: 10/10, 6/10, refraction right/left eye: +1.5-0.25 x 60 / +1.50, electrooculography Arden ratio right/left eye: 132 / 115, electroretinography: mildly reduced responses, both eyes: thick choroid, severe, retinal schisis unrelated to choroidal neovascularization: both eyes/inner nuclear layer, outer nuclear layer, optical coherence tomography - subretinal hyporeflective space in fovea: both eyes, angle-closure glaucoma treatment: laser PI, fine peripheral leakage in fundus autofluorescence"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000298468"	"04214"	"00405970"	"00000"	"Familial, autosomal recessive"	"26y"	"best corrected visual acuity right, left eye: 5/10, 10/10, refraction right/left eye: +0.75-1.25x10 / +0.5-0.75x180, electrooculography Arden ratio right/left eye: 176 / 189, electroretinography: near-normal responses, both eyes: thick choroid, retinal schisis unrelated to choroidal neovascularization: both eyes/inner nuclear layer, outer nuclear layer, optical coherence tomography - subretinal hyporeflective space in fovea: both eyes, fine peripheral leakage in fundus autofluorescence"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy"	""	""
"0000298469"	"04214"	"00405971"	"00000"	"Familial, autosomal dominant"	"62y"	"best corrected visual acuity right, left eye: both eyes: 20/100, fundus: pigmentation in the macular area"	""	""	""	""	""	""	""	""	"adult-onset best vitelliform macular dystrophy"	""	""
"0000298470"	"04214"	"00405972"	"00000"	"Familial, autosomal dominant"	"50y"	"best corrected visual acuity right, left eye: both eyes: 20/80, fundus: round lesions in the macular area"	""	""	""	""	""	""	""	""	"adult-onset best vitelliform macular dystrophy"	""	""
"0000298471"	"04214"	"00405973"	"00000"	"Familial, autosomal dominant"	"60y"	"best corrected visual acuity right, left eye: 20/200 :counting fingers/30 cm, fundus: right eye yolk-like lesion in the macula, left eye: atrophic lesion"	""	""	""	""	""	""	""	""	"adult-onset best vitelliform macular dystrophy"	""	""
"0000298472"	"04214"	"00405974"	"00000"	"Familial, autosomal dominant"	"78y"	"best corrected visual acuity right, left eye: counting fingers/20 cm,  counting fingers/30 cm, fundus: round lesions in the macular area"	""	""	""	""	""	""	""	""	"adult-onset best vitelliform macular dystrophy"	""	""
"0000298925"	"04214"	"00406438"	"00000"	"Familial, autosomal dominant"	"53y"	"1-year vision loss in both eyes - bilateral macular holes with atrophic photoreceptors and retinal pigment epithelium; vitrectomy surgery with internal limiting membrane peeling and gas tamponade right eye; macular hole closed and maintained stable for 1 year; a new extramacular vitelliform lesion was observed during the follow-up"	""	"35y"	""	""	""	""	""	""	"dystrophy, macular, vitelliform type 2 (VMD2)"	""	""
"0000300515"	"05412"	"00408394"	"03468"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000306114"	"04214"	"00414279"	"00000"	"Familial, autosomal recessive"	"34y"	"best corrected visual acuity at first visit right/left eye: 0.3 / 0.78, best corrected visual acuity at last visit right/left eye: 3 / 0.82, primary angle-closure glaucoma, follow-up: 17y"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000306115"	"04214"	"00414280"	"00000"	"Familial, autosomal recessive"	"39y"	"refraction right, left eye: +4.00, +4/-0.50@70, best corrected visual acuity at first visit right/left eye: 1 / 1, best corrected visual acuity at last visit right/left eye: 1 / 1, primary angle-closure glaucoma, follow-up: 14y"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000306116"	"04214"	"00414281"	"00000"	"Familial, autosomal recessive"	"49y"	"refraction right, left eye: +2/-0.50@120, +2/-0.75@70, best corrected visual acuity at first visit right/left eye: 0.78 / 0.78, best corrected visual acuity at last visit right/left eye: 0.78 / 0.78, follow-up: 15y"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000306117"	"04214"	"00414282"	"00000"	"Familial, autosomal recessive"	"30y"	"best corrected visual acuity at first visit right/left eye: 0.6 / 0.6, best corrected visual acuity at last visit right/left eye: 0.6 / 0.6, follow-up: 11y"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000306118"	"04214"	"00414283"	"00000"	"Familial, autosomal recessive"	"22y"	"best corrected visual acuity at first visit right/left eye: 1 / 1, best corrected visual acuity at last visit right/left eye: 1 / 1, follow-up: 12y"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000306119"	"04214"	"00414284"	"00000"	"Familial, autosomal recessive"	"44y"	"refraction right, left eye: +2.50, +4.00, best corrected visual acuity at first visit right/left eye: 0.6 / 0.48, best corrected visual acuity at last visit right/left eye: 0.9 / 0.9, follow-up: 15y"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000306120"	"04214"	"00414285"	"00000"	"Familial, autosomal recessive"	"27y"	"refraction right, left eye: +4.00, +4.00, best corrected visual acuity at first visit right/left eye: 0.78 / 1, best corrected visual acuity at last visit right/left eye: 0.6 / 1.3, follow-up: 18y"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000306121"	"04214"	"00414286"	"00000"	"Familial, autosomal recessive"	"48y"	"best corrected visual acuity at first visit right/left eye: 0.48 / 0.48, best corrected visual acuity at last visit right/left eye: 1.6 / 1.6, follow-up: 14y"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000306122"	"04214"	"00414287"	"00000"	"Familial, autosomal recessive"	"36y"	"best corrected visual acuity at first visit right/left eye: 0.48 / 1, best corrected visual acuity at last visit right/left eye: 0.48 / 0.78, follow-up: 7y"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000306123"	"04214"	"00414288"	"00000"	"Familial, autosomal recessive"	"35y"	"best corrected visual acuity at first visit right/left eye: 1 / 0.78, best corrected visual acuity at last visit right/left eye: 1.6 / 1.6, primary angle-closure glaucoma, follow-up: 12y"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000306124"	"04214"	"00414289"	"00000"	"Familial, autosomal recessive"	"16y"	"refraction right, left eye: +1.25/\'+1@75, +1.00, best corrected visual acuity at first visit right/left eye: 0.18 / 0.48, best corrected visual acuity at last visit right/left eye: 0.18 / 0.48, primary angle-closure glaucoma, follow-up: 12y"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000306125"	"04214"	"00414290"	"00000"	"Familial, autosomal recessive"	"5y"	"refraction right, left eye: +6/-1@180, +5/-0.75@50, best corrected visual acuity at first visit right/left eye: 0.1 / 0.1, best corrected visual acuity at last visit right/left eye: 0.9 / 0.2, follow-up: 11y"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000306126"	"04214"	"00414291"	"00000"	"Familial, autosomal recessive"	"19y"	"best corrected visual acuity at first visit right/left eye: 0.48 / 0.3, best corrected visual acuity at last visit right/left eye: 1 / 0.8, follow-up: 10y"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000306127"	"04214"	"00414292"	"00000"	"Familial, autosomal recessive"	"4y"	"refraction right, left eye: +4.50, +3.50, best corrected visual acuity at first visit right/left eye: 0.1 / 0.1, best corrected visual acuity at last visit right/left eye: 0.1 / 0, follow-up: 11y"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000306128"	"04214"	"00414293"	"00000"	"Familial, autosomal recessive"	"14y"	"best corrected visual acuity at first visit right/left eye: 0.4 / 0.78, best corrected visual acuity at last visit right/left eye: 1 / 1, follow-up: 9y"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000306129"	"04214"	"00414294"	"00000"	"Familial, autosomal recessive"	"11y"	"refraction right, left eye: +6/-0.75@110, +5.25/-1@80, best corrected visual acuity at first visit right/left eye: 0.32 / 0.02, best corrected visual acuity at last visit right/left eye: 0.18 / 0, follow-up: 8y"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000306130"	"04214"	"00414295"	"00000"	"Familial, autosomal recessive"	"40y"	"best corrected visual acuity at first visit right/left eye: 0.6 / 0.3, best corrected visual acuity at last visit right/left eye: 0.6 / 0.6, primary angle-closure glaucoma, follow-up: 9y"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000306131"	"04214"	"00414296"	"00000"	"Familial, autosomal recessive"	"12y"	"refraction right, left eye: -0.5, -0.25, best corrected visual acuity at first visit right/left eye: 0.06 / 0.4, best corrected visual acuity at last visit right/left eye: 0 / 0, follow-up: 8y"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000306132"	"04214"	"00414297"	"00000"	"Familial, autosomal recessive"	"45y"	"best corrected visual acuity at first visit right/left eye: 1.6 / 1.6, best corrected visual acuity at last visit right/left eye: 3 / 3, follow-up: 3y"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000306133"	"04214"	"00414298"	"00000"	"Familial, autosomal recessive"	"25y"	"best corrected visual acuity at first visit right/left eye: 0.78 / 1.18, best corrected visual acuity at last visit right/left eye: 1 / 1.6, primary angle-closure glaucoma, follow-up: 4y"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000306134"	"04214"	"00414299"	"00000"	"Familial, autosomal recessive"	"12y"	"refraction right, left eye: +0.50, +0.75/-0.25@5, best corrected visual acuity at first visit right/left eye: 0.3 / 0.28, best corrected visual acuity at last visit right/left eye: 0.48 / 0.48, follow-up: 4y"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000306135"	"04214"	"00414300"	"00000"	"Familial, autosomal recessive"	"12y"	"refraction right, left eye: +1.00, +0.25, best corrected visual acuity at first visit right/left eye: 0.3 / 0.28, best corrected visual acuity at last visit right/left eye: 0.18 / 0.3, follow-up: 3y"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000306136"	"04214"	"00414301"	"00000"	"Familial, autosomal recessive"	"31y"	"refraction right, left eye: -1, -1.25, best corrected visual acuity at first visit right/left eye: 0.18 / 0.18, best corrected visual acuity at last visit right/left eye: 0.3 / 0.18, follow-up: 1y"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000306137"	"04214"	"00414302"	"00000"	"Familial, autosomal recessive"	"63y"	"best corrected visual acuity at first visit right/left eye: 0.3 / 0.78, best corrected visual acuity at last visit right/left eye: 0.3 / 0.6, follow-up: 3y"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000306138"	"04214"	"00414303"	"00000"	"Familial, autosomal recessive"	"31y"	"refraction right, left eye: +2.50, +3.00, best corrected visual acuity at first visit right/left eye: 0.3 / 0.18, best corrected visual acuity at last visit right/left eye: 0.18 / 0.18, primary angle-closure glaucoma, follow-up: 2y"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000306139"	"04214"	"00414304"	"00000"	"Familial, autosomal recessive"	"7y"	"refraction right, left eye: +5/-1@180, +6/-2@180, best corrected visual acuity at first visit right/left eye: 0.12 / 0.2, best corrected visual acuity at last visit right/left eye: 0.4 / 0.5, follow-up: 1y"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000306140"	"04214"	"00414305"	"00000"	"Familial, autosomal recessive"	"22y"	"best corrected visual acuity at first visit right/left eye: 0.78 / 0.3, best corrected visual acuity at last visit right/left eye: 1 / 0.48, primary angle-closure glaucoma, follow-up: 2y"	""	""	""	""	""	""	""	""	"autosomal recessive bestrophinopathy (ARB)"	""	""
"0000310970"	"04214"	"00419690"	"04405"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000310971"	"04214"	"00419691"	"04405"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000311684"	"04214"	"00420436"	"00000"	"Familial, autosomal dominant"	"47y5m"	""	"15y"	""	""	""	""	""	""	""	"vitreoretinochoroidopathy (VIRC)"	""	""
"0000311722"	"04214"	"00420474"	"00000"	"Familial, autosomal dominant"	"21y1m"	""	"15y"	""	""	""	""	""	""	""	"macular dystrophy"	""	""
"0000311730"	"04214"	"00420482"	"00000"	"Familial, autosomal dominant"	"49y11m"	""	"48y"	""	""	""	""	""	""	""	"macular dystrophy"	""	""
"0000311768"	"04214"	"00420520"	"00000"	"Familial, autosomal dominant"	"79y10m"	""	"60y"	""	""	""	""	""	""	""	"macular dystrophy"	""	""
"0000318037"	"04214"	"00426899"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"Best Vitelliform Macular Dystrophy"	"Best Vitelliform Macular Dystrophy"	""
"0000318038"	"04214"	"00426900"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"Best Vitelliform Macular Dystrophy"	"Best Vitelliform Macular Dystrophy"	""
"0000318039"	"04214"	"00426901"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"Best Vitelliform Macular Dystrophy"	"Best Vitelliform Macular Dystrophy"	""
"0000320534"	"00112"	"00429662"	"04436"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320546"	"00112"	"00429674"	"04436"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320557"	"00112"	"00429685"	"04436"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320608"	"00112"	"00429736"	"04436"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320870"	"00112"	"00429998"	"04436"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320874"	"00112"	"00430002"	"04436"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000326713"	"00318"	"00000102"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"breast cancer"	""
"0000326714"	"00318"	"00000102"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"breast cancer"	""
"0000326751"	"01424"	"00436602"	"04552"	"Familial, autosomal dominant"	"20y"	"Macular dystrophy HP:0007754, Reduced visual acuity HP:0007663"	"15y"	"33y"	""	""	""	""	""	""	"# 153700"	""	""
"0000334128"	"00296"	"00444878"	"00006"	"Unknown"	""	"monocular, posterior polar/subcapsular"	""	""	""	""	""	""	""	""	""	"cataract"	""
"0000334129"	"00296"	"00444879"	"00006"	"Unknown"	""	"monocular, all white, persistent hyperplastic primary vitreous"	""	""	""	""	""	""	""	""	""	"cataract"	""
"0000335702"	"00296"	"00446483"	"00006"	"Unknown"	""	"monocular congenital cataract left"	""	""	""	""	""	""	""	""	""	"congenital catarct"	""
"0000335738"	"00296"	"00446526"	"00006"	"Unknown"	""	"monocular congenital cataract left"	""	""	""	""	""	""	""	""	""	"congenital catarct"	""
"0000336144"	"00198"	"00446945"	"00006"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, autosomal dominant"	""
"0000336233"	"00198"	"00447034"	"00006"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""
"0000336235"	"00198"	"00447036"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""
"0000336236"	"00198"	"00447037"	"00006"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""
"0000336237"	"00198"	"00447038"	"00006"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""
"0000336238"	"00198"	"00447039"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""
"0000336239"	"00198"	"00447040"	"00006"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""
"0000336240"	"00198"	"00447041"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""
"0000336241"	"00198"	"00447042"	"00006"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""
"0000336242"	"00198"	"00447043"	"00006"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""
"0000336243"	"00198"	"00447044"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""
"0000336350"	"00198"	"00447151"	"00006"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"macular dystrophy"	""
"0000336392"	"00198"	"00447193"	"00006"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"eye diseaes"	""
"0000336502"	"00198"	"00447303"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""
"0000336718"	"00198"	"00447519"	"00006"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""
"0000336899"	"00198"	"00447700"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""
"0000339767"	"04249"	"00450712"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000339768"	"04249"	"00450713"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000339769"	"04249"	"00450714"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000339770"	"04249"	"00450715"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000339771"	"04249"	"00450716"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000339772"	"04249"	"00450717"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000339773"	"04249"	"00450718"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000339774"	"04249"	"00450719"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"macular dystrophy"	""
"0000339775"	"04249"	"00450720"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Best vitelliform macular dystrophy"	""
"0000339821"	"04249"	"00450766"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""
"0000348627"	"04214"	"00461127"	"00006"	"Familial"	""	""	"18y"	""	""	""	""	""	""	""	""	"Stargardt disease"	""


## Screenings ## Do not remove or alter this header ##
## Count = 1875
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000000102"	"00000102"	"1"	"00004"	""	"2012-05-11 13:19:45"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000033230"	"00033162"	"1"	"00229"	"00229"	"2012-02-04 16:07:37"	"00006"	"2012-05-18 13:59:33"	"SEQ;SEQ-NG-S"	"DNA"	""	""
"0000033238"	"00033170"	"1"	"00229"	"00229"	"2012-02-04 15:59:56"	"00006"	"2012-05-18 13:59:33"	"SEQ;SEQ-NG-S"	"DNA"	""	""
"0000100491"	"00100088"	"1"	"01769"	"01769"	"2017-01-30 17:09:38"	""	""	"SEQ"	"DNA"	"WBC"	""
"0000156256"	"00155391"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000156257"	"00155392"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000208717"	"00207676"	"1"	"01244"	"01244"	"2018-11-27 15:50:35"	""	""	"SEQ-NG-I"	"DNA"	"Peripheral blood"	""
"0000208723"	"00207682"	"1"	"01244"	"01244"	"2018-11-27 16:43:21"	""	""	"SEQ-NG-I"	"DNA"	"Peripheral blood"	""
"0000234301"	"00233202"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234302"	"00233203"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234303"	"00233204"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234304"	"00233205"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234305"	"00233206"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234306"	"00233207"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234307"	"00233208"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234308"	"00233209"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234872"	"00233773"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000265013"	"00263902"	"1"	"01807"	"01807"	"2019-08-30 19:56:44"	""	""	"SEQ"	"DNA"	""	""
"0000291627"	"00290459"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000291628"	"00290460"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000297108"	"00295936"	"1"	"01807"	"01807"	"2020-03-30 10:44:39"	""	""	"SEQ"	"DNA"	""	""
"0000301740"	"00300619"	"1"	"01164"	"01164"	"2020-05-04 10:06:02"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000301742"	"00300621"	"1"	"01164"	"01164"	"2020-05-04 10:08:01"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000307042"	"00305912"	"1"	"00006"	"00006"	"2020-07-05 16:07:27"	"00006"	"2020-07-06 09:46:49"	"SEQ;SEQ-NG"	"DNA"	""	""
"0000307089"	"00305959"	"1"	"01807"	"01807"	"2020-07-06 11:47:01"	""	""	"SEQ"	"DNA"	""	""
"0000309561"	"00308417"	"1"	"00004"	"00006"	"2020-08-26 16:56:47"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"123 gene panel"
"0000309626"	"00308481"	"1"	"00004"	"00006"	"2020-08-27 13:01:07"	""	""	"SEQ"	"DNA"	""	""
"0000309627"	"00308482"	"1"	"00004"	"00006"	"2020-08-27 13:01:07"	""	""	"SEQ"	"DNA"	""	""
"0000309628"	"00308483"	"1"	"00004"	"00006"	"2020-08-27 13:01:07"	""	""	"SEQ"	"DNA"	""	""
"0000309629"	"00308484"	"1"	"00004"	"00006"	"2020-08-27 13:01:07"	""	""	"SEQ"	"DNA"	""	""
"0000309630"	"00308485"	"1"	"00004"	"00006"	"2020-08-27 13:01:07"	""	""	"SEQ"	"DNA"	""	""
"0000309631"	"00308486"	"1"	"00004"	"00006"	"2020-08-27 13:01:07"	""	""	"SEQ"	"DNA"	""	""
"0000309632"	"00308487"	"1"	"00004"	"00006"	"2020-08-27 13:01:07"	""	""	"SEQ"	"DNA"	""	""
"0000309746"	"00308601"	"1"	"00004"	"00006"	"2020-08-27 13:01:07"	""	""	"SEQ"	"DNA"	""	""
"0000309747"	"00308602"	"1"	"00004"	"00006"	"2020-08-27 13:01:07"	""	""	"SEQ"	"DNA"	""	""
"0000309778"	"00308633"	"1"	"00004"	"00006"	"2020-08-27 13:01:07"	""	""	"SEQ"	"DNA"	""	""
"0000309819"	"00308674"	"1"	"00004"	"00006"	"2020-08-27 14:47:58"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"204 gene panel"
"0000309880"	"00308735"	"1"	"00004"	"00006"	"2020-08-27 15:56:29"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"105 WGS/200 WES"
"0000310117"	"00308972"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310118"	"00308973"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310119"	"00308974"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310120"	"00308975"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310121"	"00308976"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310122"	"00308977"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310123"	"00308978"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310124"	"00308979"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310125"	"00308980"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310126"	"00308981"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310127"	"00308982"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310128"	"00308983"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310129"	"00308984"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310130"	"00308985"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000326663"	"00325452"	"1"	"00006"	"00006"	"2021-01-03 11:36:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"199 gene panel"
"0000329406"	"00328191"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000329468"	"00328253"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000329641"	"00328427"	"1"	"00000"	"00006"	"2021-01-27 14:27:38"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000329642"	"00328428"	"1"	"00000"	"00006"	"2021-01-27 14:27:38"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000329643"	"00328429"	"1"	"00000"	"00006"	"2021-01-27 14:27:38"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000333182"	"00331963"	"1"	"00000"	"00006"	"2021-02-14 10:12:05"	""	""	"SEQ"	"DNA"	""	""
"0000333183"	"00331964"	"1"	"00000"	"00006"	"2021-02-14 10:12:05"	""	""	"SEQ"	"DNA"	""	""
"0000333184"	"00331965"	"1"	"00000"	"00006"	"2021-02-14 10:12:05"	""	""	"SEQ"	"DNA"	""	""
"0000333185"	"00331966"	"1"	"00000"	"00006"	"2021-02-14 10:12:05"	""	""	"SEQ"	"DNA"	""	""
"0000333186"	"00331967"	"1"	"00000"	"00006"	"2021-02-14 10:12:05"	""	""	"SEQ"	"DNA"	""	""
"0000333233"	"00332014"	"1"	"00000"	"00006"	"2021-02-14 10:12:05"	""	""	"SEQ"	"DNA"	""	""
"0000333234"	"00332015"	"1"	"00000"	"00006"	"2021-02-14 10:12:05"	""	""	"SEQ"	"DNA"	""	""
"0000333235"	"00332016"	"1"	"00000"	"00006"	"2021-02-14 10:12:05"	""	""	"SEQ"	"DNA"	""	""
"0000333236"	"00332017"	"1"	"00000"	"00006"	"2021-02-14 10:12:05"	""	""	"SEQ"	"DNA"	""	""
"0000333237"	"00332018"	"1"	"00000"	"00006"	"2021-02-14 10:12:05"	""	""	"SEQ"	"DNA"	""	""
"0000333238"	"00332019"	"1"	"00000"	"00006"	"2021-02-14 10:12:05"	""	""	"SEQ"	"DNA"	""	""
"0000333239"	"00332020"	"1"	"00000"	"00006"	"2021-02-14 10:12:05"	""	""	"SEQ"	"DNA"	""	""
"0000333240"	"00332021"	"1"	"00000"	"00006"	"2021-02-14 10:12:05"	""	""	"SEQ"	"DNA"	""	""
"0000333241"	"00332022"	"1"	"00000"	"00006"	"2021-02-14 10:12:05"	""	""	"SEQ"	"DNA"	""	""
"0000333242"	"00332023"	"1"	"00000"	"00006"	"2021-02-14 10:12:05"	""	""	"SEQ"	"DNA"	""	""
"0000333243"	"00332024"	"1"	"00000"	"00006"	"2021-02-14 10:12:05"	""	""	"SEQ"	"DNA"	""	""
"0000333244"	"00332025"	"1"	"00000"	"00006"	"2021-02-14 10:12:05"	""	""	"SEQ"	"DNA"	""	""
"0000333245"	"00332026"	"1"	"00000"	"00006"	"2021-02-14 10:12:05"	""	""	"SEQ"	"DNA"	""	""
"0000333246"	"00332027"	"1"	"00000"	"00006"	"2021-02-14 10:12:05"	""	""	"SEQ"	"DNA"	""	""
"0000333728"	"00332504"	"1"	"00000"	"00006"	"2021-02-19 16:33:37"	""	""	"SEQ-NG"	"DNA"	""	""
"0000334711"	"00333486"	"1"	"00006"	"00006"	"2021-02-25 16:28:54"	""	""	"SEQ-NG"	"DNA"	""	"175-gene panel"
"0000334908"	"00333682"	"1"	"00000"	"00006"	"2021-02-26 12:01:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000334909"	"00333683"	"1"	"00000"	"00006"	"2021-02-26 12:01:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000334910"	"00333684"	"1"	"00000"	"00006"	"2021-02-26 12:01:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000334911"	"00333685"	"1"	"00000"	"00006"	"2021-02-26 12:01:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000334912"	"00333686"	"1"	"00000"	"00006"	"2021-02-26 12:01:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000334913"	"00333687"	"1"	"00000"	"00006"	"2021-02-26 12:01:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000334914"	"00333688"	"1"	"00000"	"00006"	"2021-02-26 12:01:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000334915"	"00333689"	"1"	"00000"	"00006"	"2021-02-26 12:01:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000334916"	"00333690"	"1"	"00000"	"00006"	"2021-02-26 12:01:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000334917"	"00333691"	"1"	"00000"	"00006"	"2021-02-26 12:01:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000334918"	"00333692"	"1"	"00000"	"00006"	"2021-02-26 12:01:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000334919"	"00333693"	"1"	"00000"	"00006"	"2021-02-26 12:01:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000334920"	"00333694"	"1"	"00000"	"00006"	"2021-02-26 12:01:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000334921"	"00333695"	"1"	"00000"	"00006"	"2021-02-26 12:01:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000334922"	"00333696"	"1"	"00000"	"00006"	"2021-02-26 12:01:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000334923"	"00333697"	"1"	"00000"	"00006"	"2021-02-26 12:01:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000334924"	"00333698"	"1"	"00000"	"00006"	"2021-02-26 12:01:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000334925"	"00333699"	"1"	"00000"	"00006"	"2021-02-26 12:01:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335337"	"00334111"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335489"	"00334263"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335490"	"00334264"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335491"	"00334265"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335492"	"00334266"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335493"	"00334267"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335494"	"00334268"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335639"	"00334410"	"1"	"00000"	"00006"	"2021-02-28 16:11:14"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000335799"	"00334570"	"1"	"00000"	"00006"	"2021-03-01 15:50:09"	""	""	"SEQ-NG"	"DNA"	""	"105-gene panel"
"0000336318"	"00335089"	"1"	"00000"	"00006"	"2021-03-04 11:06:46"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000336319"	"00335090"	"1"	"00000"	"00006"	"2021-03-04 11:06:46"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000336461"	"00335232"	"1"	"00000"	"00006"	"2021-03-04 14:06:09"	""	""	"SEQ-NG"	"DNA"	""	"212-gene panel"
"0000336656"	"00335427"	"1"	"00000"	"00006"	"2021-03-05 16:19:42"	""	""	"SEQ-NG"	"DNA"	""	"283-gene panel"
"0000336675"	"00335446"	"1"	"00006"	"00006"	"2021-03-05 16:51:51"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000336676"	"00335447"	"1"	"00006"	"00006"	"2021-03-05 16:54:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000336703"	"00335474"	"1"	"00000"	"00006"	"2021-03-05 19:30:17"	""	""	"SEQ-NG"	"DNA"	""	"72-gene panel"
"0000336704"	"00335475"	"1"	"00000"	"00006"	"2021-03-05 19:30:17"	""	""	"SEQ-NG"	"DNA"	""	"72-gene panel"
"0000336705"	"00335476"	"1"	"00000"	"00006"	"2021-03-05 19:30:17"	""	""	"SEQ-NG"	"DNA"	""	"72-gene panel"
"0000336706"	"00335477"	"1"	"00000"	"00006"	"2021-03-05 19:30:17"	""	""	"SEQ-NG"	"DNA"	""	"72-gene panel"
"0000336978"	"00335749"	"1"	"00000"	"00006"	"2021-03-08 20:49:15"	""	""	"SEQ-NG"	"DNA"	""	"325-gene panel"
"0000336979"	"00335750"	"1"	"00000"	"00006"	"2021-03-08 20:49:15"	""	""	"SEQ-NG"	"DNA"	""	"325-gene panel"
"0000337065"	"00335835"	"1"	"00000"	"00006"	"2021-03-09 09:58:04"	""	""	"SEQ"	"DNA"	""	"17-gene panel"
"0000337066"	"00335836"	"1"	"00000"	"00006"	"2021-03-09 09:58:04"	""	""	"SEQ"	"DNA"	""	"17-gene panel"
"0000359946"	"00358716"	"1"	"00000"	"00006"	"2021-03-11 13:59:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000360164"	"00358931"	"1"	"00000"	"00006"	"2021-03-17 15:00:07"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000360206"	"00358969"	"1"	"00000"	"00006"	"2021-03-18 12:15:00"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000360208"	"00358971"	"1"	"00000"	"00006"	"2021-03-18 12:15:00"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000360209"	"00358972"	"1"	"00000"	"00006"	"2021-03-18 12:15:00"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000360444"	"00359206"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000360464"	"00359226"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000360475"	"00359237"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000360658"	"00359416"	"1"	"00008"	"00008"	"2021-03-21 22:15:12"	""	""	"PCR;SEQ"	"DNA"	"blood"	""
"0000360660"	"00359418"	"1"	"00008"	"00008"	"2021-03-21 22:15:12"	""	""	"PCR;SEQ"	"DNA"	"blood"	""
"0000360661"	"00359419"	"1"	"00008"	"00008"	"2021-03-21 22:15:12"	""	""	"PCR;SEQ"	"DNA"	"blood"	""
"0000360662"	"00359420"	"1"	"00008"	"00008"	"2021-03-21 22:15:12"	""	""	"PCR;SEQ"	"DNA"	"blood"	""
"0000360663"	"00359421"	"1"	"00008"	"00008"	"2021-03-21 22:15:12"	""	""	"PCR;SEQ"	"DNA"	"blood"	""
"0000360664"	"00359422"	"1"	"00008"	"00008"	"2021-03-21 22:15:12"	""	""	"PCR;SEQ"	"DNA"	"blood"	""
"0000360665"	"00359423"	"1"	"00008"	"00008"	"2021-03-21 22:15:12"	""	""	"PCR;SEQ"	"DNA"	"blood"	""
"0000360666"	"00359424"	"1"	"00008"	"00008"	"2021-03-21 22:15:12"	""	""	"PCR;SEQ"	"DNA"	"blood"	""
"0000360667"	"00359425"	"1"	"00008"	"00008"	"2021-03-21 22:15:12"	""	""	"PCR;SEQ"	"DNA"	"blood"	""
"0000360668"	"00359426"	"1"	"00008"	"00008"	"2021-03-21 22:15:12"	""	""	"PCR;SEQ"	"DNA"	"blood"	""
"0000360669"	"00359427"	"1"	"00008"	"00008"	"2021-03-21 22:15:12"	""	""	"PCR;SEQ"	"DNA"	"blood"	""
"0000363907"	"00362679"	"1"	"00008"	"00008"	"2021-04-22 15:23:44"	""	""	"SEQ"	"DNA"	"blood"	""
"0000363908"	"00362680"	"1"	"00008"	"00008"	"2021-04-22 15:23:44"	""	""	"SEQ"	"DNA"	"blood"	""
"0000363909"	"00362681"	"1"	"00008"	"00008"	"2021-04-22 15:23:44"	""	""	"SEQ"	"DNA"	"blood"	""
"0000363910"	"00362682"	"1"	"00008"	"00008"	"2021-04-22 15:23:44"	""	""	"SEQ"	"DNA"	"blood"	""
"0000363911"	"00362683"	"1"	"00008"	"00008"	"2021-04-22 15:23:44"	""	""	"SEQ"	"DNA"	"blood"	""
"0000364121"	"00362893"	"1"	"00000"	"00006"	"2021-04-23 19:25:57"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000364123"	"00362895"	"1"	"00000"	"00006"	"2021-04-23 19:25:57"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000364587"	"00363359"	"1"	"00000"	"00006"	"2021-04-26 18:22:04"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000364826"	"00363598"	"1"	"00000"	"00006"	"2021-04-29 16:11:05"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000364992"	"00363764"	"1"	"00000"	"00006"	"2021-04-30 09:22:49"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000364993"	"00363765"	"1"	"00000"	"00006"	"2021-04-30 09:22:49"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000364994"	"00363766"	"1"	"00000"	"00006"	"2021-04-30 09:22:49"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000364995"	"00363767"	"1"	"00000"	"00006"	"2021-04-30 09:22:49"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000364996"	"00363768"	"1"	"00000"	"00006"	"2021-04-30 09:22:49"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000364997"	"00363769"	"1"	"00000"	"00006"	"2021-04-30 09:22:49"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000364998"	"00363770"	"1"	"00000"	"00006"	"2021-04-30 09:22:49"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000370183"	"00368955"	"1"	"01695"	"01695"	"2021-05-03 14:25:36"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000373877"	"00372645"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373919"	"00372687"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373937"	"00372705"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373939"	"00372707"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000374589"	"00373354"	"1"	"00000"	"00006"	"2021-05-14 10:24:46"	""	""	"PE;SEQ"	"DNA"	""	"APEX"
"0000374713"	"00373478"	"1"	"00000"	"00006"	"2021-05-14 16:56:19"	""	""	"SEQ-NG"	"DNA"	""	"73-gene panel"
"0000374759"	"00373524"	"1"	"00000"	"00006"	"2021-05-15 17:36:34"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000375102"	"00373870"	"1"	"00000"	"00006"	"2021-05-21 15:01:30"	""	""	"SEQ-NG"	"DNA"	""	"238-gene panel"
"0000375103"	"00373871"	"1"	"00000"	"00006"	"2021-05-21 15:01:30"	""	""	"SEQ-NG"	"DNA"	""	"238-gene panel"
"0000375135"	"00373903"	"1"	"00000"	"00006"	"2021-05-21 15:01:30"	""	""	"SEQ-NG"	"DNA"	""	"238-gene panel"
"0000376524"	"00375327"	"1"	"00000"	"00006"	"2021-06-03 08:39:58"	""	""	"SEQ-NG"	"DNA"	""	"193-gene panel"
"0000376621"	"00375424"	"1"	"00000"	"00006"	"2021-06-04 09:36:04"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000376678"	"00375481"	"1"	"00000"	"00006"	"2021-06-04 12:49:21"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000376679"	"00375482"	"1"	"00000"	"00006"	"2021-06-04 12:49:21"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000376680"	"00375483"	"1"	"00000"	"00006"	"2021-06-04 12:49:21"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000376681"	"00375484"	"1"	"00000"	"00006"	"2021-06-04 12:49:21"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000376682"	"00375485"	"1"	"00000"	"00006"	"2021-06-04 12:49:21"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000376683"	"00375486"	"1"	"00000"	"00006"	"2021-06-04 12:49:21"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000376684"	"00375487"	"1"	"00000"	"00006"	"2021-06-04 12:49:21"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000376685"	"00375488"	"1"	"00000"	"00006"	"2021-06-04 12:49:21"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000376686"	"00375489"	"1"	"00000"	"00006"	"2021-06-04 12:49:21"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000376687"	"00375490"	"1"	"00000"	"00006"	"2021-06-04 12:49:21"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000376688"	"00375491"	"1"	"00000"	"00006"	"2021-06-04 12:49:21"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000376689"	"00375492"	"1"	"00000"	"00006"	"2021-06-04 12:49:21"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000376690"	"00375493"	"1"	"00000"	"00006"	"2021-06-04 12:49:21"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000376691"	"00375494"	"1"	"00000"	"00006"	"2021-06-04 12:49:21"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000376692"	"00375495"	"1"	"00000"	"00006"	"2021-06-04 12:49:21"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000376693"	"00375496"	"1"	"00000"	"00006"	"2021-06-04 12:49:21"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000376694"	"00375497"	"1"	"00000"	"00006"	"2021-06-04 12:49:21"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000376695"	"00375498"	"1"	"00000"	"00006"	"2021-06-04 12:49:21"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000376696"	"00375499"	"1"	"00000"	"00006"	"2021-06-04 12:49:21"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000376697"	"00375500"	"1"	"00000"	"00006"	"2021-06-04 12:49:21"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000376698"	"00375501"	"1"	"00000"	"00006"	"2021-06-04 12:49:21"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000376699"	"00375502"	"1"	"00000"	"00006"	"2021-06-04 12:49:21"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000376700"	"00375503"	"1"	"00000"	"00006"	"2021-06-04 12:49:21"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000376701"	"00375504"	"1"	"00000"	"00006"	"2021-06-04 12:49:21"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000376702"	"00375505"	"1"	"00000"	"00006"	"2021-06-04 12:49:21"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000377960"	"00376754"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000377974"	"00376768"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000378437"	"00377232"	"1"	"00000"	"03840"	"2021-07-16 14:18:12"	"00006"	"2021-08-06 16:49:30"	"SEQ-NG-I;SEQ"	"DNA"	"blood"	"targeted resequencing using MIPs library prep; 108-gene panel"
"0000378438"	"00377233"	"1"	"00000"	"03840"	"2021-07-16 14:18:12"	""	""	"SEQ"	"DNA"	"buccal cells"	"targeted resequencing using MIPs library prep; 108-gene panel"
"0000378572"	"00377369"	"1"	"00000"	"03840"	"2021-07-22 14:34:00"	""	""	"?"	"DNA"	""	"various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES"
"0000378573"	"00377370"	"1"	"00000"	"03840"	"2021-07-22 14:34:00"	""	""	"?"	"DNA"	""	"various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES"
"0000378740"	"00377537"	"1"	"00000"	"03840"	"2021-07-22 15:35:32"	"00006"	"2021-08-06 16:49:30"	"SEQ-NG;SEQ"	"DNA"	"blood"	"Targeted next-generation sequencing"
"0000379060"	"00377856"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR; SEQ"	"DNA"	""	""
"0000379061"	"00377857"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR; SEQ"	"DNA"	""	""
"0000379062"	"00377858"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR; SEQ"	"DNA"	""	""
"0000379063"	"00377859"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR; SEQ"	"DNA"	""	""
"0000379064"	"00377860"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR; SEQ"	"DNA"	""	""
"0000379065"	"00377861"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR; SEQ"	"DNA"	""	""
"0000379066"	"00377862"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR; SEQ"	"DNA"	""	""
"0000379067"	"00377863"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR; SEQ"	"DNA"	""	""
"0000379068"	"00377864"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR; SEQ"	"DNA"	""	""
"0000379069"	"00377865"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR; SEQ"	"DNA"	""	""
"0000379070"	"00377866"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR; SEQ"	"DNA"	""	""
"0000379071"	"00377867"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR; SEQ"	"DNA"	""	""
"0000379072"	"00377868"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR; SEQ"	"DNA"	""	""
"0000379073"	"00377869"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR; SEQ"	"DNA"	""	""
"0000379074"	"00377870"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR; SEQ"	"DNA"	""	""
"0000379146"	"00377942"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"SEQ; SEQ-NG-S"	"DNA"	"blood"	""
"0000380640"	"00379440"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"SEQ"	"DNA"	"blood"	"WES"
"0000380641"	"00379441"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"SEQ"	"DNA"	"blood"	"WES"
"0000380642"	"00379442"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"SEQ"	"DNA"	"blood"	"WES"
"0000380748"	"00379548"	"1"	"03508"	"03508"	"2021-08-05 10:08:08"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000381015"	"00379813"	"1"	"00000"	"03840"	"2021-08-10 08:08:19"	""	""	"SEQ-NG"	"DNA"	""	"panel of 441 hereditary eye disease genes including 291 genes related to IRD"
"0000381297"	"00380096"	"1"	"00000"	"03840"	"2021-08-10 09:32:07"	""	""	"SEQ-NG"	"DNA"	""	"Whole-exome sequencing"
"0000381355"	"00380153"	"1"	"03508"	"03508"	"2021-08-10 10:11:57"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000383433"	"00382219"	"1"	"00000"	"03840"	"2021-09-09 12:39:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000383434"	"00382220"	"1"	"00000"	"03840"	"2021-09-09 12:39:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000383435"	"00382221"	"1"	"00000"	"03840"	"2021-09-09 12:39:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000383436"	"00382222"	"1"	"00000"	"03840"	"2021-09-09 12:39:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000383437"	"00382223"	"1"	"00000"	"03840"	"2021-09-09 12:39:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000383438"	"00382224"	"1"	"00000"	"03840"	"2021-09-09 12:39:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000383439"	"00382225"	"1"	"00000"	"03840"	"2021-09-09 12:39:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000383440"	"00382226"	"1"	"00000"	"03840"	"2021-09-09 12:39:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000383441"	"00382227"	"1"	"00000"	"03840"	"2021-09-09 12:39:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000383442"	"00382228"	"1"	"00000"	"03840"	"2021-09-09 12:39:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000383443"	"00382229"	"1"	"00000"	"03840"	"2021-09-09 12:39:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000383444"	"00382230"	"1"	"00000"	"03840"	"2021-09-09 12:39:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000383445"	"00382231"	"1"	"00000"	"03840"	"2021-09-09 12:39:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000383446"	"00382232"	"1"	"00000"	"03840"	"2021-09-09 12:39:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000383447"	"00382233"	"1"	"00000"	"03840"	"2021-09-09 12:39:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000383448"	"00382234"	"1"	"00000"	"03840"	"2021-09-09 12:39:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000383449"	"00382235"	"1"	"00000"	"03840"	"2021-09-09 12:39:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000383450"	"00382236"	"1"	"00000"	"03840"	"2021-09-09 12:39:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000383688"	"00382474"	"1"	"00000"	"03840"	"2021-09-09 12:39:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000383711"	"00382497"	"1"	"00000"	"03840"	"2021-09-09 12:39:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000383712"	"00382498"	"1"	"00000"	"03840"	"2021-09-09 12:39:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000384014"	"00382798"	"1"	"00000"	"00008"	"2021-09-13 01:01:20"	""	""	"arraySEQ;PCR"	"DNA"	"blood"	""
"0000384635"	"00383410"	"1"	"00000"	"03840"	"2021-09-29 09:58:40"	""	""	"?"	"DNA"	""	"retrospective study"
"0000384636"	"00383411"	"1"	"00000"	"03840"	"2021-09-29 09:58:40"	""	""	"?"	"DNA"	""	"retrospective study"
"0000384745"	"00383520"	"1"	"00000"	"03840"	"2021-09-29 12:00:07"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"204 genes associated with inherited retinal disorders; see paper"
"0000385247"	"00384022"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385497"	"00384272"	"1"	"00000"	"03840"	"2021-09-29 13:19:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel of 126 genes"
"0000385507"	"00384282"	"1"	"00000"	"03840"	"2021-09-29 13:19:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel of 126 genes"
"0000385582"	"00384357"	"1"	"00000"	"03840"	"2021-09-29 13:19:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel of 126 genes"
"0000385659"	"00384434"	"1"	"00000"	"03840"	"2021-09-29 13:19:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel of 126 genes"
"0000385663"	"00384438"	"1"	"00000"	"03840"	"2021-09-29 13:19:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel of 126 genes"
"0000385685"	"00384460"	"1"	"00000"	"03840"	"2021-09-29 13:19:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel of 126 genes"
"0000385705"	"00384480"	"1"	"00000"	"03840"	"2021-09-29 13:19:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel of 126 genes"
"0000385789"	"00384564"	"1"	"00000"	"03840"	"2021-09-30 09:21:52"	""	""	"SEQ;RFLP"	"DNA"	""	""
"0000385790"	"00384565"	"1"	"00000"	"03840"	"2021-09-30 09:21:52"	""	""	"SEQ;RFLP"	"DNA"	""	""
"0000385791"	"00384566"	"1"	"00000"	"03840"	"2021-09-30 09:21:52"	""	""	"SEQ;RFLP"	"DNA"	""	""
"0000385792"	"00384567"	"1"	"00000"	"03840"	"2021-09-30 09:21:52"	""	""	"SEQ;RFLP"	"DNA"	""	""
"0000385793"	"00384568"	"1"	"00000"	"03840"	"2021-09-30 09:21:52"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000385794"	"00384569"	"1"	"00000"	"03840"	"2021-09-30 09:21:52"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000385795"	"00384570"	"1"	"00000"	"03840"	"2021-09-30 09:21:52"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000385796"	"00384571"	"1"	"00000"	"03840"	"2021-09-30 09:21:52"	""	""	"SEQ;RFLP"	"DNA"	""	""
"0000385857"	"00384629"	"1"	"00000"	"03840"	"2021-10-04 12:47:36"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000385858"	"00384630"	"1"	"00000"	"03840"	"2021-10-04 12:47:36"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000387431"	"00386202"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387435"	"00386206"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387451"	"00386222"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387472"	"00386243"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387493"	"00386264"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387916"	"00386688"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000388153"	"00386925"	"1"	"00006"	"00006"	"2021-10-26 19:10:41"	"00006"	"2021-10-26 20:03:08"	"SEQ"	"DNA"	""	""
"0000388614"	"00387388"	"1"	"00000"	"03840"	"2021-10-29 09:42:54"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome"
"0000388853"	"00387627"	"1"	"00000"	"03840"	"2021-10-29 23:13:01"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000388865"	"00387639"	"1"	"00000"	"03840"	"2021-10-29 23:13:01"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000388892"	"00387666"	"1"	"00000"	"03840"	"2021-10-29 23:13:01"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000388893"	"00387667"	"1"	"00000"	"03840"	"2021-10-29 23:13:01"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000388894"	"00387668"	"1"	"00000"	"03840"	"2021-10-29 23:13:01"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000390042"	"00388799"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390043"	"00388800"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390052"	"00388809"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390055"	"00388812"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390056"	"00388813"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390057"	"00388814"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390068"	"00388825"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390100"	"00388857"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390123"	"00388880"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390143"	"00388900"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390149"	"00388906"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390150"	"00388907"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390163"	"00388920"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390188"	"00388945"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390208"	"00388965"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390212"	"00388969"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390219"	"00388976"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390228"	"00388985"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390231"	"00388988"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390241"	"00388998"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390247"	"00389004"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390263"	"00389020"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390264"	"00389021"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390506"	"00389263"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000390711"	"00389468"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000390750"	"00389507"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000390846"	"00389603"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET9 targeted sequencing panel - see paper"
"0000391416"	"00390175"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000391417"	"00390176"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000392006"	"00390765"	"1"	"00000"	"00008"	"2021-11-11 21:56:08"	""	""	"arraySEQ"	"DNA"	"Blood"	""
"0000392040"	"00390799"	"1"	"00000"	"00008"	"2021-11-11 21:56:08"	""	""	"arraySEQ"	"DNA"	"Blood"	""
"0000392091"	"00390850"	"1"	"00000"	"00008"	"2021-11-11 21:56:08"	""	""	"SEQ"	"DNA"	""	""
"0000392096"	"00390855"	"1"	"00000"	"00008"	"2021-11-11 21:56:08"	""	""	"SEQ"	"DNA"	""	""
"0000392111"	"00390870"	"1"	"00000"	"00008"	"2021-11-11 21:56:08"	""	""	"SEQ"	"DNA"	""	""
"0000392114"	"00390873"	"1"	"00000"	"00008"	"2021-11-11 21:56:08"	""	""	"SEQ"	"DNA"	""	""
"0000392117"	"00390876"	"1"	"00000"	"00008"	"2021-11-11 21:56:08"	""	""	"SEQ"	"DNA"	""	""
"0000392147"	"00390906"	"1"	"00000"	"00008"	"2021-11-11 21:56:08"	""	""	"SEQ"	"DNA"	""	""
"0000392150"	"00390909"	"1"	"00000"	"00008"	"2021-11-11 21:56:08"	""	""	"SEQ"	"DNA"	""	""
"0000392171"	"00390930"	"1"	"00000"	"00008"	"2021-11-11 21:56:08"	""	""	"SEQ"	"DNA"	""	""
"0000392173"	"00390932"	"1"	"00000"	"00008"	"2021-11-11 21:56:08"	""	""	"SEQ"	"DNA"	""	""
"0000392204"	"00390963"	"1"	"00000"	"00008"	"2021-11-11 21:56:08"	""	""	"SEQ"	"DNA"	""	""
"0000392233"	"00390992"	"1"	"00000"	"00008"	"2021-11-11 21:56:08"	""	""	"SEQ"	"DNA"	""	""
"0000392379"	"00391137"	"1"	"00000"	"03840"	"2021-11-13 11:00:19"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole exome sequencing"
"0000392380"	"00391138"	"1"	"00000"	"03840"	"2021-11-13 11:00:19"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole exome sequencing"
"0000392381"	"00391139"	"1"	"00000"	"03840"	"2021-11-13 11:00:19"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole exome sequencing"
"0000392382"	"00391140"	"1"	"00000"	"03840"	"2021-11-13 11:00:19"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole exome sequencing"
"0000392383"	"00391141"	"1"	"00000"	"03840"	"2021-11-13 11:00:19"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole exome sequencing"
"0000392384"	"00391142"	"1"	"00000"	"03840"	"2021-11-13 11:00:19"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole exome sequencing"
"0000392385"	"00391143"	"1"	"00000"	"03840"	"2021-11-13 11:00:19"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole exome sequencing"
"0000392767"	"00391525"	"1"	"00000"	"03840"	"2021-11-17 14:55:16"	""	""	"?"	"DNA"	"blood"	"NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families"
"0000392768"	"00391526"	"1"	"00000"	"03840"	"2021-11-17 14:55:16"	""	""	"?"	"DNA"	"blood"	"NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families"
"0000392769"	"00391527"	"1"	"00000"	"03840"	"2021-11-17 14:55:16"	""	""	"?"	"DNA"	"blood"	"NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families"
"0000392770"	"00391528"	"1"	"00000"	"03840"	"2021-11-17 14:55:16"	""	""	"?"	"DNA"	"blood"	"NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families"
"0000392771"	"00391529"	"1"	"00000"	"03840"	"2021-11-17 14:55:16"	""	""	"?"	"DNA"	"blood"	"NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families"
"0000392772"	"00391530"	"1"	"00000"	"03840"	"2021-11-17 14:55:16"	""	""	"?"	"DNA"	"blood"	"NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families"
"0000393377"	"00392135"	"1"	"00000"	"03840"	"2021-11-21 15:06:43"	""	""	"SEQ-NG"	"DNA"	"blood"	"custom panel of 117 IRD-associated genes"
"0000393402"	"00392160"	"1"	"00000"	"03840"	"2021-11-21 15:43:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"custom panel of 117 IRD-associated genes"
"0000393547"	"00392305"	"1"	"00000"	"03840"	"2021-11-22 13:18:51"	""	""	"SEQ-NG"	"DNA"	"blood"	"MVL Vision Panel v2 incorporating copy number variation analysis"
"0000393548"	"00392306"	"1"	"00000"	"03840"	"2021-11-22 13:18:51"	""	""	"SEQ-NG"	"DNA"	"blood"	"MVL Vision Panel v2 incorporating copy number variation analysis"
"0000393549"	"00392307"	"1"	"00000"	"03840"	"2021-11-22 13:18:51"	""	""	"SEQ-NG"	"DNA"	"blood"	"MVL Vision Panel v2 incorporating copy number variation analysis"
"0000393823"	"00392576"	"1"	"00000"	"03840"	"2021-11-23 15:06:01"	""	""	"SEQ-NG-I;SEQ"	"DNA"	""	"whole exome sequencing"
"0000394578"	"00393330"	"1"	"00000"	"03840"	"2021-11-29 11:52:56"	""	""	"SEQ"	"DNA"	"blood"	"whole exome sequencing"
"0000394579"	"00393331"	"1"	"00000"	"03840"	"2021-11-29 11:52:56"	""	""	"SEQ"	"DNA"	"blood"	"whole exome sequencing"
"0000394726"	"00393478"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ"	"DNA"	""	""
"0000394818"	"00393570"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG"	"DNA"	""	"hereditary eye disease enrichment panel (HEDEP)"
"0000394877"	"00393629"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ"	"DNA"	""	""
"0000394901"	"00393653"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ"	"DNA"	""	""
"0000395063"	"00393815"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ"	"DNA"	""	""
"0000395078"	"00393830"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG"	"DNA"	""	"hereditary eye disease enrichment panel (HEDEP)"
"0000395120"	"00393872"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG"	"DNA"	""	"hereditary eye disease enrichment panel (HEDEP)"
"0000395148"	"00393900"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG"	"DNA"	""	"hereditary eye disease enrichment panel (HEDEP)"
"0000396672"	"00395434"	"1"	"00000"	"03840"	"2021-12-06 18:34:43"	""	""	"?"	"DNA"	""	"retrospective analysis"
"0000396673"	"00395435"	"1"	"00000"	"03840"	"2021-12-06 18:34:43"	""	""	"?"	"DNA"	""	"retrospective analysis"
"0000396674"	"00395436"	"1"	"00000"	"03840"	"2021-12-06 18:34:43"	""	""	"?"	"DNA"	""	"retrospective analysis"
"0000396675"	"00395437"	"1"	"00000"	"03840"	"2021-12-06 18:34:43"	""	""	"?"	"DNA"	""	"retrospective analysis"
"0000396676"	"00395438"	"1"	"00000"	"03840"	"2021-12-06 18:34:43"	""	""	"?"	"DNA"	""	"retrospective analysis"
"0000396677"	"00395439"	"1"	"00000"	"03840"	"2021-12-06 18:34:43"	""	""	"?"	"DNA"	""	"retrospective analysis"
"0000397098"	"00395859"	"1"	"00000"	"03840"	"2021-12-09 13:32:39"	""	""	"SEQ-NG"	"DNA"	"blood"	"212 inherited retinal disease-related genes"
"0000397142"	"00395903"	"1"	"00000"	"03840"	"2021-12-09 13:32:39"	""	""	"SEQ-NG"	"DNA"	"blood"	"212 inherited retinal disease-related genes"
"0000397175"	"00395936"	"1"	"00000"	"03840"	"2021-12-09 13:32:39"	""	""	"SEQ-NG"	"DNA"	"blood"	"212 inherited retinal disease-related genes"
"0000397185"	"00395946"	"1"	"00000"	"03840"	"2021-12-09 13:32:39"	""	""	"SEQ-NG"	"DNA"	"blood"	"212 inherited retinal disease-related genes"
"0000397705"	"00396465"	"1"	"00006"	"00006"	"2021-12-15 16:38:30"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000403733"	"00402491"	"1"	"00000"	"03840"	"2022-02-07 12:31:53"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403734"	"00402492"	"1"	"00000"	"03840"	"2022-02-07 12:31:53"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403735"	"00402493"	"1"	"00000"	"03840"	"2022-02-07 12:31:53"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403736"	"00402494"	"1"	"00000"	"03840"	"2022-02-07 12:31:53"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403737"	"00402495"	"1"	"00000"	"03840"	"2022-02-07 12:31:53"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403738"	"00402496"	"1"	"00000"	"03840"	"2022-02-07 12:31:53"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403739"	"00402497"	"1"	"00000"	"03840"	"2022-02-07 12:31:53"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403740"	"00402498"	"1"	"00000"	"03840"	"2022-02-07 12:31:53"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403741"	"00402499"	"1"	"00000"	"03840"	"2022-02-07 12:31:53"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403742"	"00402500"	"1"	"00000"	"03840"	"2022-02-07 12:31:53"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403743"	"00402501"	"1"	"00000"	"03840"	"2022-02-07 12:31:53"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403744"	"00402502"	"1"	"00000"	"03840"	"2022-02-07 12:31:53"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403745"	"00402503"	"1"	"00000"	"03840"	"2022-02-07 12:31:53"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403746"	"00402504"	"1"	"00000"	"03840"	"2022-02-07 12:31:53"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403747"	"00402505"	"1"	"00000"	"03840"	"2022-02-07 12:31:53"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403748"	"00402506"	"1"	"00000"	"03840"	"2022-02-07 12:31:53"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403749"	"00402507"	"1"	"00000"	"03840"	"2022-02-07 12:31:53"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403750"	"00402508"	"1"	"00000"	"03840"	"2022-02-07 12:31:53"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403751"	"00402509"	"1"	"00000"	"03840"	"2022-02-07 12:31:53"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403752"	"00402510"	"1"	"00000"	"03840"	"2022-02-07 12:31:53"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403753"	"00402511"	"1"	"00000"	"03840"	"2022-02-07 12:31:53"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403754"	"00402512"	"1"	"00000"	"03840"	"2022-02-07 12:31:53"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403755"	"00402513"	"1"	"00000"	"03840"	"2022-02-07 12:31:53"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403756"	"00402514"	"1"	"00000"	"03840"	"2022-02-07 12:31:53"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403757"	"00402515"	"1"	"00000"	"03840"	"2022-02-07 12:31:53"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403758"	"00402516"	"1"	"00000"	"03840"	"2022-02-07 12:31:53"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403759"	"00402517"	"1"	"00000"	"03840"	"2022-02-07 12:31:53"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403760"	"00402518"	"1"	"00000"	"03840"	"2022-02-07 12:31:53"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403761"	"00402519"	"1"	"00000"	"03840"	"2022-02-07 12:31:53"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403762"	"00402520"	"1"	"00000"	"03840"	"2022-02-07 12:31:53"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403763"	"00402521"	"1"	"00000"	"03840"	"2022-02-07 12:31:53"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403764"	"00402522"	"1"	"00000"	"03840"	"2022-02-07 12:31:53"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403765"	"00402523"	"1"	"00000"	"03840"	"2022-02-07 12:31:53"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403766"	"00402524"	"1"	"00000"	"03840"	"2022-02-07 12:31:53"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403767"	"00402525"	"1"	"00000"	"03840"	"2022-02-07 12:31:53"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403768"	"00402526"	"1"	"00000"	"03840"	"2022-02-07 12:31:53"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403769"	"00402527"	"1"	"00000"	"03840"	"2022-02-07 12:31:53"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403770"	"00402528"	"1"	"00000"	"03840"	"2022-02-07 12:31:53"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403771"	"00402529"	"1"	"00000"	"03840"	"2022-02-07 12:31:53"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403772"	"00402530"	"1"	"00000"	"03840"	"2022-02-07 12:31:53"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403773"	"00402531"	"1"	"00000"	"03840"	"2022-02-07 12:31:53"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403774"	"00402532"	"1"	"00000"	"03840"	"2022-02-07 12:31:53"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403776"	"00402535"	"1"	"00000"	"03840"	"2022-02-07 13:53:49"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403777"	"00402536"	"1"	"00000"	"03840"	"2022-02-07 13:53:49"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403778"	"00402537"	"1"	"00000"	"03840"	"2022-02-07 13:53:49"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403779"	"00402538"	"1"	"00000"	"03840"	"2022-02-07 13:53:49"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403780"	"00402539"	"1"	"00000"	"03840"	"2022-02-07 13:53:49"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403781"	"00402540"	"1"	"00000"	"03840"	"2022-02-07 13:53:49"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403782"	"00402541"	"1"	"00000"	"03840"	"2022-02-07 13:53:49"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403783"	"00402542"	"1"	"00000"	"03840"	"2022-02-07 13:53:49"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403784"	"00402543"	"1"	"00000"	"03840"	"2022-02-07 13:53:49"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403785"	"00402544"	"1"	"00000"	"03840"	"2022-02-07 13:53:49"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403786"	"00402545"	"1"	"00000"	"03840"	"2022-02-07 13:53:49"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403787"	"00402546"	"1"	"00000"	"03840"	"2022-02-07 13:53:49"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403788"	"00402547"	"1"	"00000"	"03840"	"2022-02-07 13:53:49"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403789"	"00402548"	"1"	"00000"	"03840"	"2022-02-07 13:53:49"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403790"	"00402549"	"1"	"00000"	"03840"	"2022-02-07 13:53:49"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403791"	"00402550"	"1"	"00000"	"03840"	"2022-02-07 13:53:49"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403792"	"00402551"	"1"	"00000"	"03840"	"2022-02-07 13:53:49"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403793"	"00402552"	"1"	"00000"	"03840"	"2022-02-07 13:53:49"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403794"	"00402553"	"1"	"00000"	"03840"	"2022-02-07 13:53:49"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403795"	"00402554"	"1"	"00000"	"03840"	"2022-02-07 13:53:49"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403796"	"00402555"	"1"	"00000"	"03840"	"2022-02-07 13:53:49"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403801"	"00402559"	"1"	"00000"	"03840"	"2022-02-07 17:42:58"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403802"	"00402560"	"1"	"00000"	"03840"	"2022-02-07 17:42:58"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403803"	"00402561"	"1"	"00000"	"03840"	"2022-02-07 17:42:58"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403804"	"00402562"	"1"	"00000"	"03840"	"2022-02-07 17:42:58"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403805"	"00402563"	"1"	"00000"	"03840"	"2022-02-07 17:42:58"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403806"	"00402564"	"1"	"00000"	"03840"	"2022-02-07 17:42:58"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403807"	"00402565"	"1"	"00000"	"03840"	"2022-02-07 17:42:58"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403808"	"00402566"	"1"	"00000"	"03840"	"2022-02-07 17:42:58"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403809"	"00402567"	"1"	"00000"	"03840"	"2022-02-07 17:42:58"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403810"	"00402568"	"1"	"00000"	"03840"	"2022-02-07 17:42:58"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403811"	"00402569"	"1"	"00000"	"03840"	"2022-02-07 17:42:58"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403812"	"00402570"	"1"	"00000"	"03840"	"2022-02-07 17:42:58"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403813"	"00402571"	"1"	"00000"	"03840"	"2022-02-07 17:42:58"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403814"	"00402572"	"1"	"00000"	"03840"	"2022-02-07 17:42:58"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403815"	"00402573"	"1"	"00000"	"03840"	"2022-02-07 17:42:58"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403816"	"00402574"	"1"	"00000"	"03840"	"2022-02-07 17:42:58"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403817"	"00402575"	"1"	"00000"	"03840"	"2022-02-07 17:42:58"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403818"	"00402576"	"1"	"00000"	"03840"	"2022-02-07 17:42:58"	""	""	"STR;SEQ"	"DNA"	""	""
"0000403819"	"00402577"	"1"	"00000"	"03840"	"2022-02-07 20:27:59"	""	""	"RFLP;SEQ"	"DNA"	""	""
"0000403820"	"00402578"	"1"	"00000"	"03840"	"2022-02-07 20:27:59"	""	""	"ARMS;SEQ"	"DNA"	""	""
"0000403821"	"00402579"	"1"	"00000"	"03840"	"2022-02-07 20:27:59"	""	""	"ARMS;SEQ"	"DNA"	""	""
"0000403822"	"00402580"	"1"	"00000"	"03840"	"2022-02-07 20:27:59"	""	""	"RFLP;SEQ"	"DNA"	""	""
"0000403823"	"00402581"	"1"	"00000"	"03840"	"2022-02-07 20:27:59"	""	""	"RFLP;SEQ"	"DNA"	""	""
"0000403824"	"00402582"	"1"	"00000"	"03840"	"2022-02-07 20:27:59"	""	""	"ARMS;SEQ"	"DNA"	""	""
"0000403825"	"00402583"	"1"	"00000"	"03840"	"2022-02-07 20:27:59"	""	""	"ARMS;SEQ"	"DNA"	""	""
"0000403826"	"00402584"	"1"	"00000"	"03840"	"2022-02-07 20:27:59"	""	""	"RFLP;SEQ"	"DNA"	""	""
"0000403834"	"00402592"	"1"	"00000"	"03840"	"2022-02-08 12:12:39"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403835"	"00402593"	"1"	"00000"	"03840"	"2022-02-08 12:12:39"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403836"	"00402594"	"1"	"00000"	"03840"	"2022-02-08 12:12:39"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403837"	"00402595"	"1"	"00000"	"03840"	"2022-02-08 12:12:39"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403838"	"00402596"	"1"	"00000"	"03840"	"2022-02-08 12:12:39"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403839"	"00402597"	"1"	"00000"	"03840"	"2022-02-08 12:12:39"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403840"	"00402598"	"1"	"00000"	"03840"	"2022-02-08 12:12:39"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403841"	"00402599"	"1"	"00000"	"03840"	"2022-02-08 12:36:04"	""	""	"SEQ;STR"	"DNA"	""	""
"0000403843"	"00402601"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403844"	"00402602"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403845"	"00402603"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403846"	"00402604"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403847"	"00402605"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403848"	"00402606"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403849"	"00402607"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403850"	"00402608"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SEQ"	"DNA"	""	""
"0000403851"	"00402609"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403852"	"00402610"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403853"	"00402611"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SEQ"	"DNA"	""	""
"0000403854"	"00402612"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403855"	"00402613"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403856"	"00402614"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403857"	"00402615"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403858"	"00402616"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403859"	"00402617"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403860"	"00402618"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403861"	"00402619"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403862"	"00402620"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403863"	"00402621"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403864"	"00402622"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403865"	"00402623"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403866"	"00402624"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403867"	"00402625"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403868"	"00402626"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403869"	"00402627"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403870"	"00402628"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403871"	"00402629"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403872"	"00402630"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403873"	"00402631"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403874"	"00402632"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403875"	"00402633"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403876"	"00402634"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SEQ"	"DNA"	""	""
"0000403877"	"00402635"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SEQ"	"DNA"	""	""
"0000403878"	"00402636"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SEQ"	"DNA"	""	""
"0000403879"	"00402637"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SEQ"	"DNA"	""	""
"0000403880"	"00402638"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SEQ"	"DNA"	""	""
"0000403881"	"00402639"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SEQ"	"DNA"	""	""
"0000403882"	"00402640"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SEQ"	"DNA"	""	""
"0000403883"	"00402641"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SEQ"	"DNA"	""	""
"0000403884"	"00402642"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SEQ"	"DNA"	""	""
"0000403885"	"00402643"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403886"	"00402644"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403887"	"00402645"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403888"	"00402646"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403889"	"00402647"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403890"	"00402648"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403891"	"00402649"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403892"	"00402650"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403893"	"00402651"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403894"	"00402652"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403895"	"00402653"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403896"	"00402654"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403897"	"00402655"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403898"	"00402656"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403899"	"00402657"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403900"	"00402658"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403901"	"00402659"	"1"	"00000"	"03840"	"2022-02-08 16:38:30"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000403902"	"00402660"	"1"	"00000"	"03840"	"2022-02-08 19:31:42"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403903"	"00402661"	"1"	"00000"	"03840"	"2022-02-08 19:31:42"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403904"	"00402662"	"1"	"00000"	"03840"	"2022-02-08 19:31:42"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403905"	"00402663"	"1"	"00000"	"03840"	"2022-02-08 19:31:42"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403906"	"00402664"	"1"	"00000"	"03840"	"2022-02-08 19:31:42"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403907"	"00402665"	"1"	"00000"	"03840"	"2022-02-08 19:31:42"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403908"	"00402666"	"1"	"00000"	"03840"	"2022-02-08 19:31:42"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403909"	"00402667"	"1"	"00000"	"03840"	"2022-02-08 19:31:42"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403910"	"00402668"	"1"	"00000"	"03840"	"2022-02-08 19:31:42"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403911"	"00402669"	"1"	"00000"	"03840"	"2022-02-08 19:31:42"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403912"	"00402670"	"1"	"00000"	"03840"	"2022-02-08 19:31:42"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403913"	"00402671"	"1"	"00000"	"03840"	"2022-02-08 19:31:42"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403914"	"00402672"	"1"	"00000"	"03840"	"2022-02-08 19:31:42"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403915"	"00402673"	"1"	"00000"	"03840"	"2022-02-08 19:31:42"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403916"	"00402674"	"1"	"00000"	"03840"	"2022-02-08 19:31:42"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403917"	"00402675"	"1"	"00000"	"03840"	"2022-02-08 19:31:42"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403918"	"00402676"	"1"	"00000"	"03840"	"2022-02-08 19:31:42"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403919"	"00402677"	"1"	"00000"	"03840"	"2022-02-08 19:31:42"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403920"	"00402678"	"1"	"00000"	"03840"	"2022-02-08 19:31:42"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403921"	"00402679"	"1"	"00000"	"03840"	"2022-02-08 19:31:42"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403922"	"00402680"	"1"	"00000"	"03840"	"2022-02-08 19:31:42"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403923"	"00402681"	"1"	"00000"	"03840"	"2022-02-08 19:31:42"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403924"	"00402682"	"1"	"00000"	"03840"	"2022-02-08 19:31:42"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403925"	"00402683"	"1"	"00000"	"03840"	"2022-02-08 19:31:42"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403926"	"00402684"	"1"	"00000"	"03840"	"2022-02-08 19:31:42"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403927"	"00402685"	"1"	"00000"	"03840"	"2022-02-08 19:31:42"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403928"	"00402686"	"1"	"00000"	"03840"	"2022-02-08 19:31:42"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403929"	"00402687"	"1"	"00000"	"03840"	"2022-02-08 19:31:42"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403930"	"00402688"	"1"	"00000"	"03840"	"2022-02-08 19:31:42"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403931"	"00402689"	"1"	"00000"	"03840"	"2022-02-08 19:31:42"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403932"	"00402690"	"1"	"00000"	"03840"	"2022-02-08 19:31:42"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403933"	"00402691"	"1"	"00000"	"03840"	"2022-02-08 19:31:42"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403934"	"00402692"	"1"	"00000"	"03840"	"2022-02-08 19:31:42"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403935"	"00402693"	"1"	"00000"	"03840"	"2022-02-08 19:31:42"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403936"	"00402694"	"1"	"00000"	"03840"	"2022-02-08 19:31:42"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403937"	"00402695"	"1"	"00000"	"03840"	"2022-02-08 19:31:42"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403938"	"00402696"	"1"	"00000"	"03840"	"2022-02-08 19:31:42"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403939"	"00402697"	"1"	"00000"	"03840"	"2022-02-08 19:31:42"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403940"	"00402698"	"1"	"00000"	"03840"	"2022-02-08 19:31:42"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403941"	"00402699"	"1"	"00000"	"03840"	"2022-02-08 19:31:42"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403942"	"00402700"	"1"	"00000"	"03840"	"2022-02-08 19:31:42"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403943"	"00402701"	"1"	"00000"	"03840"	"2022-02-08 19:31:42"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403944"	"00402702"	"1"	"00000"	"03840"	"2022-02-09 07:53:37"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403945"	"00402703"	"1"	"00000"	"03840"	"2022-02-09 07:53:37"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403946"	"00402704"	"1"	"00000"	"03840"	"2022-02-09 07:53:37"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403947"	"00402705"	"1"	"00000"	"03840"	"2022-02-09 07:53:37"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403948"	"00402706"	"1"	"00000"	"03840"	"2022-02-09 07:53:37"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403949"	"00402707"	"1"	"00000"	"03840"	"2022-02-09 07:53:37"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403950"	"00402708"	"1"	"00000"	"03840"	"2022-02-09 07:53:37"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403951"	"00402709"	"1"	"00000"	"03840"	"2022-02-09 07:53:37"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403952"	"00402710"	"1"	"00000"	"03840"	"2022-02-09 07:53:37"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403953"	"00402711"	"1"	"00000"	"03840"	"2022-02-09 07:53:37"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403954"	"00402712"	"1"	"00000"	"03840"	"2022-02-09 07:53:37"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403955"	"00402713"	"1"	"00000"	"03840"	"2022-02-09 07:53:37"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403956"	"00402714"	"1"	"00000"	"03840"	"2022-02-09 07:53:37"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403957"	"00402715"	"1"	"00000"	"03840"	"2022-02-09 07:53:37"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403958"	"00402716"	"1"	"00000"	"03840"	"2022-02-09 07:53:37"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403959"	"00402717"	"1"	"00000"	"03840"	"2022-02-09 09:32:16"	""	""	"SEQ;RFLP"	"DNA"	"blood"	""
"0000403960"	"00402718"	"1"	"00000"	"03840"	"2022-02-09 09:32:16"	""	""	"SEQ;RFLP"	"DNA"	"blood"	""
"0000403961"	"00402719"	"1"	"00000"	"03840"	"2022-02-09 09:32:16"	""	""	"SEQ;RFLP"	"DNA"	"blood"	""
"0000403962"	"00402720"	"1"	"00000"	"03840"	"2022-02-09 09:32:16"	""	""	"SEQ;RFLP"	"DNA"	"blood"	""
"0000403963"	"00402721"	"1"	"00000"	"03840"	"2022-02-09 09:32:16"	""	""	"SEQ;RFLP"	"DNA"	"blood"	""
"0000403964"	"00402722"	"1"	"00000"	"03840"	"2022-02-09 10:28:10"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403965"	"00402723"	"1"	"00000"	"03840"	"2022-02-09 10:28:10"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403966"	"00402724"	"1"	"00000"	"03840"	"2022-02-09 10:28:10"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403967"	"00402725"	"1"	"00000"	"03840"	"2022-02-09 10:28:10"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403968"	"00402726"	"1"	"00000"	"03840"	"2022-02-09 10:28:10"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403970"	"00402729"	"1"	"00000"	"03840"	"2022-02-09 13:32:05"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403971"	"00402730"	"1"	"00000"	"03840"	"2022-02-09 13:32:05"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403972"	"00402731"	"1"	"00000"	"03840"	"2022-02-09 13:32:05"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403973"	"00402732"	"1"	"00000"	"03840"	"2022-02-09 13:32:05"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403974"	"00402733"	"1"	"00000"	"03840"	"2022-02-09 13:32:05"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403975"	"00402734"	"1"	"00000"	"03840"	"2022-02-09 13:32:05"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403976"	"00402735"	"1"	"00000"	"03840"	"2022-02-09 13:32:05"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403977"	"00402736"	"1"	"00000"	"03840"	"2022-02-09 13:32:05"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403979"	"00402738"	"1"	"00000"	"03840"	"2022-02-09 14:26:52"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403980"	"00402739"	"1"	"00000"	"03840"	"2022-02-09 14:26:52"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000403981"	"00402740"	"1"	"00000"	"03840"	"2022-02-09 14:47:13"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	""
"0000403982"	"00402741"	"1"	"00000"	"03840"	"2022-02-09 14:47:13"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	""
"0000403983"	"00402742"	"1"	"00000"	"03840"	"2022-02-09 14:47:13"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	""
"0000403985"	"00402744"	"1"	"00000"	"03840"	"2022-02-09 16:16:55"	""	""	"?"	"DNA"	"blood"	"SSCA;SEQ"
"0000403986"	"00402745"	"1"	"00000"	"03840"	"2022-02-09 16:16:55"	""	""	"?"	"DNA"	"blood"	"SSCA;SEQ"
"0000403987"	"00402746"	"1"	"00000"	"03840"	"2022-02-09 16:16:55"	""	""	"?"	"DNA"	"blood"	"SSCA;SEQ"
"0000403988"	"00402747"	"1"	"00000"	"03840"	"2022-02-09 16:16:55"	""	""	"?"	"DNA"	"blood"	"SSCA;SEQ"
"0000403989"	"00402748"	"1"	"00000"	"03840"	"2022-02-09 16:16:55"	""	""	"?"	"DNA"	"blood"	"SSCA;SEQ"
"0000403990"	"00402749"	"1"	"00000"	"03840"	"2022-02-09 16:16:55"	""	""	"?"	"DNA"	"blood"	"SSCA;SEQ"
"0000403991"	"00402750"	"1"	"00000"	"03840"	"2022-02-09 16:16:55"	""	""	"?"	"DNA"	"blood"	"SSCA;SEQ"
"0000403992"	"00402751"	"1"	"00000"	"03840"	"2022-02-09 16:16:55"	""	""	"?"	"DNA"	"blood"	"SSCA;SEQ"
"0000403993"	"00402752"	"1"	"00000"	"03840"	"2022-02-09 16:16:55"	""	""	"?"	"DNA"	"blood"	"SSCA;SEQ"
"0000403994"	"00402753"	"1"	"00000"	"03840"	"2022-02-09 16:16:55"	""	""	"?"	"DNA"	"blood"	"SSCA;SEQ"
"0000403995"	"00402754"	"1"	"00000"	"03840"	"2022-02-10 11:42:06"	""	""	"?"	"DNA"	""	"retrospective study"
"0000403996"	"00402755"	"1"	"00000"	"03840"	"2022-02-10 11:42:06"	""	""	"?"	"DNA"	""	"retrospective study"
"0000403997"	"00402756"	"1"	"00000"	"03840"	"2022-02-10 11:42:06"	""	""	"?"	"DNA"	""	"retrospective study"
"0000403998"	"00402757"	"1"	"00000"	"03840"	"2022-02-10 11:42:06"	""	""	"?"	"DNA"	""	"retrospective study"
"0000403999"	"00402758"	"1"	"00000"	"03840"	"2022-02-10 11:42:06"	""	""	"?"	"DNA"	""	"retrospective study"
"0000404000"	"00402759"	"1"	"00000"	"03840"	"2022-02-10 11:42:06"	""	""	"?"	"DNA"	""	"retrospective study"
"0000404001"	"00402760"	"1"	"00000"	"03840"	"2022-02-10 11:42:06"	""	""	"?"	"DNA"	""	"retrospective study"
"0000404002"	"00402761"	"1"	"00000"	"03840"	"2022-02-10 11:42:06"	""	""	"?"	"DNA"	""	"retrospective study"
"0000404003"	"00402762"	"1"	"00000"	"03840"	"2022-02-10 11:42:06"	""	""	"?"	"DNA"	""	"retrospective study"
"0000404004"	"00402763"	"1"	"00000"	"03840"	"2022-02-10 11:42:06"	""	""	"?"	"DNA"	""	"retrospective study"
"0000404005"	"00402764"	"1"	"00000"	"03840"	"2022-02-10 11:42:06"	""	""	"?"	"DNA"	""	"retrospective study"
"0000404006"	"00402765"	"1"	"00000"	"03840"	"2022-02-10 11:42:06"	""	""	"?"	"DNA"	""	"retrospective study"
"0000404007"	"00402766"	"1"	"00000"	"03840"	"2022-02-10 11:42:06"	""	""	"?"	"DNA"	""	"retrospective study"
"0000404008"	"00402767"	"1"	"00000"	"03840"	"2022-02-10 11:42:06"	""	""	"?"	"DNA"	""	"retrospective study"
"0000404009"	"00402768"	"1"	"00000"	"03840"	"2022-02-10 15:35:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404010"	"00402769"	"1"	"00000"	"03840"	"2022-02-10 15:35:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404011"	"00402770"	"1"	"00000"	"03840"	"2022-02-10 15:35:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404012"	"00402771"	"1"	"00000"	"03840"	"2022-02-10 15:35:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404013"	"00402772"	"1"	"00000"	"03840"	"2022-02-10 15:35:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404014"	"00402773"	"1"	"00000"	"03840"	"2022-02-10 15:35:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404015"	"00402774"	"1"	"00000"	"03840"	"2022-02-10 15:35:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404016"	"00402775"	"1"	"00000"	"03840"	"2022-02-10 15:35:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404017"	"00402776"	"1"	"00000"	"03840"	"2022-02-10 15:35:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404018"	"00402777"	"1"	"00000"	"03840"	"2022-02-10 15:35:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404019"	"00402778"	"1"	"00000"	"03840"	"2022-02-10 15:35:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404020"	"00402779"	"1"	"00000"	"03840"	"2022-02-10 15:35:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404021"	"00402780"	"1"	"00000"	"03840"	"2022-02-10 15:35:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404022"	"00402781"	"1"	"00000"	"03840"	"2022-02-10 15:35:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404023"	"00402782"	"1"	"00000"	"03840"	"2022-02-10 15:35:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404024"	"00402783"	"1"	"00000"	"03840"	"2022-02-10 15:35:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404025"	"00402784"	"1"	"00000"	"03840"	"2022-02-10 15:35:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404026"	"00402785"	"1"	"00000"	"03840"	"2022-02-10 15:35:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404027"	"00402786"	"1"	"00000"	"03840"	"2022-02-10 15:35:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404028"	"00402787"	"1"	"00000"	"03840"	"2022-02-10 15:35:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404029"	"00402788"	"1"	"00000"	"03840"	"2022-02-10 15:35:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404030"	"00402789"	"1"	"00000"	"03840"	"2022-02-10 15:35:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404031"	"00402790"	"1"	"00000"	"03840"	"2022-02-10 15:35:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404032"	"00402791"	"1"	"00000"	"03840"	"2022-02-10 15:35:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404033"	"00402792"	"1"	"00000"	"03840"	"2022-02-10 15:35:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404034"	"00402793"	"1"	"00000"	"03840"	"2022-02-10 15:35:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404035"	"00402794"	"1"	"00000"	"03840"	"2022-02-10 15:35:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404036"	"00402796"	"1"	"00000"	"03840"	"2022-02-10 19:08:55"	""	""	"SEQ;STR"	"DNA"	"blood"	""
"0000404037"	"00402797"	"1"	"00000"	"03840"	"2022-02-10 19:08:55"	""	""	"SEQ;STR"	"DNA"	"blood"	""
"0000404038"	"00402798"	"1"	"00000"	"03840"	"2022-02-10 19:08:55"	""	""	"SEQ;STR"	"DNA"	"blood"	""
"0000404039"	"00402799"	"1"	"00000"	"03840"	"2022-02-10 19:08:55"	""	""	"SEQ;STR"	"DNA"	"blood"	""
"0000404040"	"00402800"	"1"	"00000"	"03840"	"2022-02-10 19:08:55"	""	""	"SEQ;STR"	"DNA"	"blood"	""
"0000404041"	"00402801"	"1"	"00000"	"03840"	"2022-02-10 19:12:18"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404042"	"00402802"	"1"	"00000"	"03840"	"2022-02-10 19:12:18"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404043"	"00402803"	"1"	"00000"	"03840"	"2022-02-10 19:12:18"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404044"	"00402804"	"1"	"00000"	"03840"	"2022-02-10 19:12:18"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404064"	"00402823"	"1"	"00000"	"03840"	"2022-02-11 14:52:14"	""	""	"SEQ"	"DNA"	"blood"	"Retrospective study"
"0000404065"	"00402824"	"1"	"00000"	"03840"	"2022-02-11 14:52:14"	""	""	"SEQ"	"DNA"	"blood"	"Retrospective study"
"0000404066"	"00402825"	"1"	"00000"	"03840"	"2022-02-11 14:52:14"	""	""	"SEQ"	"DNA"	"blood"	"Retrospective study"
"0000404067"	"00402826"	"1"	"00000"	"03840"	"2022-02-11 14:52:14"	""	""	"SEQ"	"DNA"	"blood"	"Retrospective study"
"0000404068"	"00402827"	"1"	"00000"	"03840"	"2022-02-11 14:52:14"	""	""	"SEQ"	"DNA"	"blood"	"Retrospective study"
"0000404069"	"00402828"	"1"	"00000"	"03840"	"2022-02-11 14:52:14"	""	""	"SEQ"	"DNA"	"blood"	"Retrospective study"
"0000404070"	"00402829"	"1"	"00000"	"03840"	"2022-02-11 14:52:14"	""	""	"SEQ"	"DNA"	"blood"	"Retrospective study"
"0000404071"	"00402830"	"1"	"00000"	"03840"	"2022-02-11 14:52:14"	""	""	"SEQ"	"DNA"	"blood"	"Retrospective study"
"0000404072"	"00402831"	"1"	"00000"	"03840"	"2022-02-11 14:52:14"	""	""	"SEQ"	"DNA"	"blood"	"Retrospective study"
"0000404073"	"00402832"	"1"	"00000"	"03840"	"2022-02-11 14:52:14"	""	""	"SEQ"	"DNA"	"blood"	"Retrospective study"
"0000404074"	"00402833"	"1"	"00000"	"03840"	"2022-02-11 14:52:14"	""	""	"SEQ"	"DNA"	"blood"	"Retrospective study"
"0000404075"	"00402834"	"1"	"00000"	"03840"	"2022-02-11 14:52:14"	""	""	"SEQ"	"DNA"	"blood"	"Retrospective study"
"0000404076"	"00402835"	"1"	"00000"	"03840"	"2022-02-11 14:52:14"	""	""	"SEQ"	"DNA"	"blood"	"Retrospective study"
"0000404077"	"00402836"	"1"	"00000"	"03840"	"2022-02-11 14:52:14"	""	""	"SEQ"	"DNA"	"blood"	"Retrospective study"
"0000404078"	"00402837"	"1"	"00000"	"03840"	"2022-02-11 14:52:14"	""	""	"SEQ"	"DNA"	"blood"	"Retrospective study"
"0000404079"	"00402838"	"1"	"00000"	"03840"	"2022-02-11 14:52:14"	""	""	"SEQ"	"DNA"	"blood"	"Retrospective study"
"0000404086"	"00402845"	"1"	"00000"	"03840"	"2022-02-11 18:06:18"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404091"	"00402850"	"1"	"00000"	"03840"	"2022-02-12 12:32:03"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000404092"	"00402851"	"1"	"00000"	"03840"	"2022-02-12 12:32:03"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000404093"	"00402852"	"1"	"00000"	"03840"	"2022-02-12 12:32:03"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000404094"	"00402853"	"1"	"00000"	"03840"	"2022-02-12 12:32:03"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000404095"	"00402854"	"1"	"00000"	"03840"	"2022-02-12 12:32:03"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000404096"	"00402855"	"1"	"00000"	"03840"	"2022-02-12 12:32:03"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000404097"	"00402856"	"1"	"00000"	"03840"	"2022-02-12 12:32:03"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000404098"	"00402857"	"1"	"00000"	"03840"	"2022-02-12 12:32:03"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000404099"	"00402858"	"1"	"00000"	"03840"	"2022-02-12 12:32:03"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000404100"	"00402859"	"1"	"00000"	"03840"	"2022-02-12 12:32:03"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000404101"	"00402860"	"1"	"00000"	"03840"	"2022-02-12 12:32:03"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000404102"	"00402861"	"1"	"00000"	"03840"	"2022-02-12 12:32:03"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000404103"	"00402862"	"1"	"00000"	"03840"	"2022-02-12 12:32:03"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000404104"	"00402863"	"1"	"00000"	"03840"	"2022-02-12 12:32:03"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000404105"	"00402864"	"1"	"00000"	"03840"	"2022-02-12 12:32:03"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000404106"	"00402865"	"1"	"00000"	"03840"	"2022-02-12 12:32:03"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000404107"	"00402866"	"1"	"00000"	"03840"	"2022-02-12 12:32:03"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000404108"	"00402867"	"1"	"00000"	"03840"	"2022-02-12 12:32:03"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000404109"	"00402868"	"1"	"00000"	"03840"	"2022-02-12 12:32:03"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000404110"	"00402869"	"1"	"00000"	"03840"	"2022-02-12 12:32:03"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000404111"	"00402870"	"1"	"00000"	"03840"	"2022-02-12 14:41:22"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404112"	"00402871"	"1"	"00000"	"03840"	"2022-02-12 14:41:22"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404113"	"00402872"	"1"	"00000"	"03840"	"2022-02-12 14:41:22"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404114"	"00402873"	"1"	"00000"	"03840"	"2022-02-12 14:41:22"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404115"	"00402874"	"1"	"00000"	"03840"	"2022-02-12 14:41:22"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404116"	"00402875"	"1"	"00000"	"03840"	"2022-02-12 14:41:22"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404165"	"00402924"	"1"	"00000"	"03840"	"2022-02-14 14:42:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404167"	"00402926"	"1"	"00000"	"03840"	"2022-02-14 15:17:53"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404168"	"00402927"	"1"	"00000"	"03840"	"2022-02-14 15:17:53"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404197"	"00402956"	"1"	"00000"	"03840"	"2022-02-15 11:11:54"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404198"	"00402957"	"1"	"00000"	"03840"	"2022-02-15 11:11:54"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404199"	"00402958"	"1"	"00000"	"03840"	"2022-02-15 11:11:54"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404200"	"00402959"	"1"	"00000"	"03840"	"2022-02-15 11:11:54"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404201"	"00402960"	"1"	"00000"	"03840"	"2022-02-15 11:11:54"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404202"	"00402961"	"1"	"00000"	"03840"	"2022-02-15 11:11:54"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404203"	"00402962"	"1"	"00000"	"03840"	"2022-02-15 11:11:54"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404204"	"00402963"	"1"	"00000"	"03840"	"2022-02-15 11:11:54"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404205"	"00402964"	"1"	"00000"	"03840"	"2022-02-15 11:11:54"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404206"	"00402965"	"1"	"00000"	"03840"	"2022-02-15 11:11:54"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404207"	"00402966"	"1"	"00000"	"03840"	"2022-02-15 11:11:54"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404208"	"00402967"	"1"	"00000"	"03840"	"2022-02-15 11:11:54"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404209"	"00402968"	"1"	"00000"	"03840"	"2022-02-15 11:11:54"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404210"	"00402969"	"1"	"00000"	"03840"	"2022-02-15 11:11:54"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404211"	"00402970"	"1"	"00000"	"03840"	"2022-02-15 11:11:54"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404212"	"00402971"	"1"	"00000"	"03840"	"2022-02-15 11:11:54"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404213"	"00402972"	"1"	"00000"	"03840"	"2022-02-15 11:11:54"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404214"	"00402973"	"1"	"00000"	"03840"	"2022-02-15 11:11:54"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404215"	"00402974"	"1"	"00000"	"03840"	"2022-02-15 11:11:54"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404216"	"00402975"	"1"	"00000"	"03840"	"2022-02-15 11:11:54"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404217"	"00402976"	"1"	"00000"	"03840"	"2022-02-15 11:11:54"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404218"	"00402977"	"1"	"00000"	"03840"	"2022-02-15 11:11:54"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404219"	"00402978"	"1"	"00000"	"03840"	"2022-02-15 11:11:54"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404220"	"00402979"	"1"	"00000"	"03840"	"2022-02-15 11:13:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404221"	"00402980"	"1"	"00000"	"03840"	"2022-02-15 11:13:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404222"	"00402981"	"1"	"00000"	"03840"	"2022-02-15 11:13:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404223"	"00402982"	"1"	"00000"	"03840"	"2022-02-15 11:13:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404224"	"00402983"	"1"	"00000"	"03840"	"2022-02-15 11:13:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404225"	"00402984"	"1"	"00000"	"03840"	"2022-02-15 11:13:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404226"	"00402985"	"1"	"00000"	"03840"	"2022-02-15 11:13:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404227"	"00402986"	"1"	"00000"	"03840"	"2022-02-15 11:13:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404228"	"00402987"	"1"	"00000"	"03840"	"2022-02-15 11:13:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404229"	"00402988"	"1"	"00000"	"03840"	"2022-02-15 11:13:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404230"	"00402989"	"1"	"00000"	"03840"	"2022-02-15 11:13:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404241"	"00403000"	"1"	"00000"	"03840"	"2022-02-15 14:30:47"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404242"	"00403001"	"1"	"00000"	"03840"	"2022-02-15 14:30:47"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404243"	"00403002"	"1"	"00000"	"03840"	"2022-02-15 14:30:47"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404244"	"00403003"	"1"	"00000"	"03840"	"2022-02-15 14:30:47"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404245"	"00403004"	"1"	"00000"	"03840"	"2022-02-15 14:30:47"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404246"	"00403005"	"1"	"00000"	"03840"	"2022-02-15 14:30:47"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404247"	"00403006"	"1"	"00000"	"03840"	"2022-02-15 14:30:47"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404248"	"00403007"	"1"	"00000"	"03840"	"2022-02-15 14:30:47"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404249"	"00403008"	"1"	"00000"	"03840"	"2022-02-15 14:30:47"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404250"	"00403009"	"1"	"00000"	"03840"	"2022-02-15 14:30:47"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404251"	"00403010"	"1"	"00000"	"03840"	"2022-02-15 14:30:47"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404252"	"00403011"	"1"	"00000"	"03840"	"2022-02-15 14:30:47"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404255"	"00403014"	"1"	"00000"	"03840"	"2022-02-15 17:37:36"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404256"	"00403015"	"1"	"00000"	"03840"	"2022-02-15 17:37:36"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404257"	"00403016"	"1"	"00000"	"03840"	"2022-02-15 17:37:36"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404258"	"00403017"	"1"	"00000"	"03840"	"2022-02-15 17:37:36"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404259"	"00403018"	"1"	"00000"	"03840"	"2022-02-15 17:37:36"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404260"	"00403019"	"1"	"00000"	"03840"	"2022-02-15 17:37:36"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404261"	"00403020"	"1"	"00000"	"03840"	"2022-02-15 17:37:36"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404262"	"00403021"	"1"	"00000"	"03840"	"2022-02-15 17:37:36"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404263"	"00403022"	"1"	"00000"	"03840"	"2022-02-15 17:37:36"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404273"	"00403032"	"1"	"00000"	"03840"	"2022-02-15 23:44:26"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404274"	"00403033"	"1"	"00000"	"03840"	"2022-02-15 23:44:26"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404275"	"00403034"	"1"	"00000"	"03840"	"2022-02-15 23:44:26"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404276"	"00403035"	"1"	"00000"	"03840"	"2022-02-15 23:44:26"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404277"	"00403036"	"1"	"00000"	"03840"	"2022-02-15 23:44:26"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404278"	"00403037"	"1"	"00000"	"03840"	"2022-02-15 23:44:26"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404279"	"00403038"	"1"	"00000"	"03840"	"2022-02-15 23:44:26"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404281"	"00403040"	"1"	"00000"	"03840"	"2022-02-16 10:17:43"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404282"	"00403041"	"1"	"00000"	"03840"	"2022-02-16 10:17:43"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404284"	"00403043"	"1"	"00000"	"03840"	"2022-02-16 11:33:44"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404285"	"00403044"	"1"	"00000"	"03840"	"2022-02-16 11:33:44"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404286"	"00403045"	"1"	"00000"	"03840"	"2022-02-16 11:33:44"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404287"	"00403046"	"1"	"00000"	"03840"	"2022-02-16 12:12:05"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404288"	"00403047"	"1"	"00000"	"03840"	"2022-02-16 12:12:05"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404289"	"00403048"	"1"	"00000"	"03840"	"2022-02-16 12:12:05"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404290"	"00403049"	"1"	"00000"	"03840"	"2022-02-16 12:12:05"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404291"	"00403050"	"1"	"00000"	"03840"	"2022-02-16 12:12:05"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404292"	"00403051"	"1"	"00000"	"03840"	"2022-02-16 12:12:05"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404293"	"00403052"	"1"	"00000"	"03840"	"2022-02-16 12:12:05"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404295"	"00403054"	"1"	"00000"	"03840"	"2022-02-16 12:30:29"	""	""	"SEQ"	"DNA"	""	"retrospective case analysis"
"0000404296"	"00403055"	"1"	"00000"	"03840"	"2022-02-16 12:30:29"	""	""	"SEQ"	"DNA"	""	"retrospective case analysis"
"0000404297"	"00403056"	"1"	"00000"	"03840"	"2022-02-16 12:30:29"	""	""	"SEQ"	"DNA"	""	"retrospective case analysis"
"0000404298"	"00403057"	"1"	"00000"	"03840"	"2022-02-16 12:30:29"	""	""	"SEQ"	"DNA"	""	"retrospective case analysis"
"0000404299"	"00403058"	"1"	"00000"	"03840"	"2022-02-16 12:30:29"	""	""	"SEQ"	"DNA"	""	"retrospective case analysis"
"0000404302"	"00403061"	"1"	"00000"	"03840"	"2022-02-16 13:16:15"	""	""	"SEQ"	"DNA"	""	""
"0000404303"	"00403062"	"1"	"00000"	"03840"	"2022-02-16 14:48:04"	""	""	"SEQ"	"DNA"	""	""
"0000404304"	"00403063"	"1"	"00000"	"03840"	"2022-02-16 14:48:04"	""	""	"SEQ"	"DNA"	""	""
"0000404305"	"00403064"	"1"	"00000"	"03840"	"2022-02-16 14:48:04"	""	""	"SEQ"	"DNA"	""	""
"0000404306"	"00403065"	"1"	"00000"	"03840"	"2022-02-16 14:48:04"	""	""	"SEQ"	"DNA"	""	""
"0000404307"	"00403066"	"1"	"00000"	"03840"	"2022-02-16 14:48:04"	""	""	"SEQ"	"DNA"	""	""
"0000404308"	"00403067"	"1"	"00000"	"03840"	"2022-02-16 14:48:04"	""	""	"SEQ"	"DNA"	""	""
"0000404309"	"00403068"	"1"	"00000"	"03840"	"2022-02-16 14:48:04"	""	""	"SEQ"	"DNA"	""	""
"0000404310"	"00403069"	"1"	"00000"	"03840"	"2022-02-16 14:48:04"	""	""	"SEQ"	"DNA"	""	""
"0000404311"	"00403070"	"1"	"00000"	"03840"	"2022-02-16 14:48:04"	""	""	"SEQ"	"DNA"	""	""
"0000404312"	"00403071"	"1"	"00000"	"03840"	"2022-02-16 14:48:04"	""	""	"SEQ"	"DNA"	""	""
"0000404313"	"00403072"	"1"	"00000"	"03840"	"2022-02-16 14:48:04"	""	""	"SEQ"	"DNA"	""	""
"0000404314"	"00403073"	"1"	"00000"	"03840"	"2022-02-16 14:48:04"	""	""	"SEQ"	"DNA"	""	""
"0000404315"	"00403074"	"1"	"00000"	"03840"	"2022-02-16 14:48:04"	""	""	"SEQ"	"DNA"	""	""
"0000404316"	"00403075"	"1"	"00000"	"03840"	"2022-02-16 14:48:04"	""	""	"SEQ"	"DNA"	""	""
"0000404317"	"00403076"	"1"	"00000"	"03840"	"2022-02-16 14:48:04"	""	""	"SEQ"	"DNA"	""	""
"0000404318"	"00403077"	"1"	"00000"	"03840"	"2022-02-16 14:48:04"	""	""	"SEQ"	"DNA"	""	""
"0000404319"	"00403078"	"1"	"00000"	"03840"	"2022-02-16 14:48:04"	""	""	"SEQ"	"DNA"	""	""
"0000404320"	"00403079"	"1"	"00000"	"03840"	"2022-02-16 14:48:04"	""	""	"SEQ"	"DNA"	""	""
"0000404321"	"00403080"	"1"	"00000"	"03840"	"2022-02-16 14:48:04"	""	""	"SEQ"	"DNA"	""	""
"0000404322"	"00403081"	"1"	"00000"	"03840"	"2022-02-16 14:48:04"	""	""	"SEQ"	"DNA"	""	""
"0000404323"	"00403082"	"1"	"00000"	"03840"	"2022-02-16 16:45:35"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404324"	"00403083"	"1"	"00000"	"03840"	"2022-02-16 16:45:35"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404325"	"00403084"	"1"	"00000"	"03840"	"2022-02-16 16:45:35"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404326"	"00403085"	"1"	"00000"	"03840"	"2022-02-16 16:45:35"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404359"	"00403118"	"1"	"00000"	"03840"	"2022-02-17 12:55:13"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404360"	"00403119"	"1"	"00000"	"03840"	"2022-02-17 12:55:13"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404361"	"00403120"	"1"	"00000"	"03840"	"2022-02-17 12:55:13"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404362"	"00403121"	"1"	"00000"	"03840"	"2022-02-17 12:55:13"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404363"	"00403122"	"1"	"00000"	"03840"	"2022-02-17 12:55:13"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404364"	"00403123"	"1"	"00000"	"03840"	"2022-02-17 12:55:13"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404365"	"00403124"	"1"	"00000"	"03840"	"2022-02-17 12:55:13"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404366"	"00403125"	"1"	"00000"	"03840"	"2022-02-17 12:55:13"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404367"	"00403126"	"1"	"00000"	"03840"	"2022-02-17 12:55:13"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404368"	"00403127"	"1"	"00000"	"03840"	"2022-02-17 12:55:13"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404369"	"00403128"	"1"	"00000"	"03840"	"2022-02-17 12:55:13"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404370"	"00403129"	"1"	"00000"	"03840"	"2022-02-17 12:55:13"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404371"	"00403130"	"1"	"00000"	"03840"	"2022-02-17 12:55:13"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404372"	"00403131"	"1"	"00000"	"03840"	"2022-02-17 12:55:13"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404373"	"00403132"	"1"	"00000"	"03840"	"2022-02-17 12:55:13"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404374"	"00403133"	"1"	"00000"	"03840"	"2022-02-17 12:55:13"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404375"	"00403134"	"1"	"00000"	"03840"	"2022-02-17 12:55:13"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404376"	"00403135"	"1"	"00000"	"03840"	"2022-02-17 12:55:13"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404378"	"00403137"	"1"	"00000"	"03840"	"2022-02-17 14:25:11"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404379"	"00403138"	"1"	"00000"	"03840"	"2022-02-17 14:25:11"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404380"	"00403139"	"1"	"00000"	"03840"	"2022-02-17 14:25:11"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404381"	"00403140"	"1"	"00000"	"03840"	"2022-02-17 14:25:11"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404382"	"00403141"	"1"	"00000"	"03840"	"2022-02-17 14:25:11"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404383"	"00403142"	"1"	"00000"	"03840"	"2022-02-17 14:25:11"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404384"	"00403143"	"1"	"00000"	"03840"	"2022-02-17 14:25:11"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404385"	"00403144"	"1"	"00000"	"03840"	"2022-02-17 14:25:11"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404386"	"00403145"	"1"	"00000"	"03840"	"2022-02-17 14:25:11"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404387"	"00403146"	"1"	"00000"	"03840"	"2022-02-17 14:25:11"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404388"	"00403147"	"1"	"00000"	"03840"	"2022-02-17 14:25:11"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404389"	"00403148"	"1"	"00000"	"03840"	"2022-02-17 14:25:11"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404390"	"00403149"	"1"	"00000"	"03840"	"2022-02-17 14:25:11"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404391"	"00403150"	"1"	"00000"	"03840"	"2022-02-17 14:25:11"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404392"	"00403151"	"1"	"00000"	"03840"	"2022-02-17 14:25:11"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404393"	"00403152"	"1"	"00000"	"03840"	"2022-02-17 14:25:11"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404394"	"00403153"	"1"	"00000"	"03840"	"2022-02-17 14:25:11"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404395"	"00403154"	"1"	"00000"	"03840"	"2022-02-17 14:25:11"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404407"	"00403166"	"1"	"00000"	"03840"	"2022-02-18 10:57:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404408"	"00403167"	"1"	"00000"	"03840"	"2022-02-18 10:57:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404409"	"00403168"	"1"	"00000"	"03840"	"2022-02-18 10:57:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404410"	"00403169"	"1"	"00000"	"03840"	"2022-02-18 10:57:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404411"	"00403170"	"1"	"00000"	"03840"	"2022-02-18 10:57:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404412"	"00403171"	"1"	"00000"	"03840"	"2022-02-18 10:57:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404413"	"00403172"	"1"	"00000"	"03840"	"2022-02-18 10:57:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404414"	"00403173"	"1"	"00000"	"03840"	"2022-02-18 10:57:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404415"	"00403174"	"1"	"00000"	"03840"	"2022-02-18 10:57:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404416"	"00403175"	"1"	"00000"	"03840"	"2022-02-18 10:57:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404417"	"00403176"	"1"	"00000"	"03840"	"2022-02-18 10:57:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404418"	"00403177"	"1"	"00000"	"03840"	"2022-02-18 10:57:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404419"	"00403178"	"1"	"00000"	"03840"	"2022-02-18 10:57:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404420"	"00403179"	"1"	"00000"	"03840"	"2022-02-18 10:57:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404421"	"00403180"	"1"	"00000"	"03840"	"2022-02-18 10:57:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404422"	"00403181"	"1"	"00000"	"03840"	"2022-02-18 10:57:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404423"	"00403182"	"1"	"00000"	"03840"	"2022-02-18 10:57:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404424"	"00403183"	"1"	"00000"	"03840"	"2022-02-18 10:57:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404425"	"00403184"	"1"	"00000"	"03840"	"2022-02-18 10:57:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404426"	"00403185"	"1"	"00000"	"03840"	"2022-02-18 10:57:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404427"	"00403186"	"1"	"00000"	"03840"	"2022-02-18 10:57:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404428"	"00403187"	"1"	"00000"	"03840"	"2022-02-18 10:57:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404429"	"00403188"	"1"	"00000"	"03840"	"2022-02-18 10:57:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404785"	"00403545"	"1"	"00000"	"03840"	"2022-02-18 14:02:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404786"	"00403546"	"1"	"00000"	"03840"	"2022-02-18 14:02:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404787"	"00403547"	"1"	"00000"	"03840"	"2022-02-18 14:02:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404788"	"00403548"	"1"	"00000"	"03840"	"2022-02-18 14:02:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404789"	"00403549"	"1"	"00000"	"03840"	"2022-02-18 14:02:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404790"	"00403550"	"1"	"00000"	"03840"	"2022-02-18 14:02:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404791"	"00403551"	"1"	"00000"	"03840"	"2022-02-18 14:02:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404792"	"00403552"	"1"	"00000"	"03840"	"2022-02-18 14:02:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404793"	"00403553"	"1"	"00000"	"03840"	"2022-02-18 14:02:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404794"	"00403554"	"1"	"00000"	"03840"	"2022-02-18 14:02:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404795"	"00403555"	"1"	"00000"	"03840"	"2022-02-18 14:02:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404796"	"00403556"	"1"	"00000"	"03840"	"2022-02-18 14:02:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404797"	"00403557"	"1"	"00000"	"03840"	"2022-02-18 14:02:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404798"	"00403558"	"1"	"00000"	"03840"	"2022-02-18 14:02:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404799"	"00403559"	"1"	"00000"	"03840"	"2022-02-18 14:02:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404800"	"00403560"	"1"	"00000"	"03840"	"2022-02-18 14:02:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404801"	"00403561"	"1"	"00000"	"03840"	"2022-02-18 14:02:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404802"	"00403562"	"1"	"00000"	"03840"	"2022-02-18 14:02:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404803"	"00403563"	"1"	"00000"	"03840"	"2022-02-18 14:02:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404804"	"00403564"	"1"	"00000"	"03840"	"2022-02-18 14:02:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404805"	"00403565"	"1"	"00000"	"03840"	"2022-02-18 14:02:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404806"	"00403566"	"1"	"00000"	"03840"	"2022-02-18 14:02:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404807"	"00403567"	"1"	"00000"	"03840"	"2022-02-18 14:02:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404808"	"00403568"	"1"	"00000"	"03840"	"2022-02-18 14:02:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404809"	"00403569"	"1"	"00000"	"03840"	"2022-02-18 14:56:19"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404810"	"00403570"	"1"	"00000"	"03840"	"2022-02-18 14:56:19"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404811"	"00403571"	"1"	"00000"	"03840"	"2022-02-18 14:56:19"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404814"	"00403574"	"1"	"00000"	"03840"	"2022-02-18 19:25:55"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404815"	"00403575"	"1"	"00000"	"03840"	"2022-02-18 19:25:55"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404816"	"00403576"	"1"	"00000"	"03840"	"2022-02-18 19:25:55"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404817"	"00403577"	"1"	"00000"	"03840"	"2022-02-18 19:25:55"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404818"	"00403578"	"1"	"00000"	"03840"	"2022-02-18 19:25:55"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404819"	"00403579"	"1"	"00000"	"03840"	"2022-02-18 19:25:55"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404820"	"00403580"	"1"	"00000"	"03840"	"2022-02-18 19:25:55"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404821"	"00403581"	"1"	"00000"	"03840"	"2022-02-18 19:25:55"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404822"	"00403582"	"1"	"00000"	"03840"	"2022-02-18 19:25:55"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404823"	"00403583"	"1"	"00000"	"03840"	"2022-02-18 19:25:55"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404824"	"00403584"	"1"	"00000"	"03840"	"2022-02-18 19:25:55"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404832"	"00403592"	"1"	"00000"	"03840"	"2022-02-19 19:11:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404833"	"00403593"	"1"	"00000"	"03840"	"2022-02-19 19:11:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404834"	"00403594"	"1"	"00000"	"03840"	"2022-02-19 19:11:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404835"	"00403595"	"1"	"00000"	"03840"	"2022-02-19 19:11:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404836"	"00403596"	"1"	"00000"	"03840"	"2022-02-19 19:11:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404837"	"00403597"	"1"	"00000"	"03840"	"2022-02-19 19:11:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404838"	"00403598"	"1"	"00000"	"03840"	"2022-02-19 19:11:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404839"	"00403599"	"1"	"00000"	"03840"	"2022-02-19 19:11:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404840"	"00403600"	"1"	"00000"	"03840"	"2022-02-19 19:11:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404841"	"00403601"	"1"	"00000"	"03840"	"2022-02-19 19:11:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404842"	"00403602"	"1"	"00000"	"03840"	"2022-02-19 19:11:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404843"	"00403603"	"1"	"00000"	"03840"	"2022-02-19 19:11:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404844"	"00403604"	"1"	"00000"	"03840"	"2022-02-19 19:11:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404845"	"00403605"	"1"	"00000"	"03840"	"2022-02-19 19:11:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404846"	"00403606"	"1"	"00000"	"03840"	"2022-02-19 19:11:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404847"	"00403607"	"1"	"00000"	"03840"	"2022-02-19 19:11:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404848"	"00403608"	"1"	"00000"	"03840"	"2022-02-19 19:11:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404849"	"00403609"	"1"	"00000"	"03840"	"2022-02-19 19:11:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404850"	"00403610"	"1"	"00000"	"03840"	"2022-02-19 19:11:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404851"	"00403611"	"1"	"00000"	"03840"	"2022-02-19 19:11:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404852"	"00403612"	"1"	"00000"	"03840"	"2022-02-19 19:11:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404853"	"00403613"	"1"	"00000"	"03840"	"2022-02-19 19:11:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404854"	"00403614"	"1"	"00000"	"03840"	"2022-02-19 19:11:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404855"	"00403615"	"1"	"00000"	"03840"	"2022-02-19 19:11:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404856"	"00403616"	"1"	"00000"	"03840"	"2022-02-19 19:11:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404857"	"00403617"	"1"	"00000"	"03840"	"2022-02-19 19:11:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404858"	"00403618"	"1"	"00000"	"03840"	"2022-02-19 19:11:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404859"	"00403619"	"1"	"00000"	"03840"	"2022-02-19 19:11:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404860"	"00403620"	"1"	"00000"	"03840"	"2022-02-19 19:11:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404861"	"00403621"	"1"	"00000"	"03840"	"2022-02-19 19:11:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404862"	"00403622"	"1"	"00000"	"03840"	"2022-02-19 19:11:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404863"	"00403623"	"1"	"00000"	"03840"	"2022-02-19 19:11:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404864"	"00403624"	"1"	"00000"	"03840"	"2022-02-19 19:11:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404865"	"00403625"	"1"	"00000"	"03840"	"2022-02-19 19:11:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404866"	"00403626"	"1"	"00000"	"03840"	"2022-02-19 19:11:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404867"	"00403627"	"1"	"00000"	"03840"	"2022-02-19 19:11:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404868"	"00403628"	"1"	"00000"	"03840"	"2022-02-19 19:11:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404869"	"00403629"	"1"	"00000"	"03840"	"2022-02-19 19:11:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404870"	"00403630"	"1"	"00000"	"03840"	"2022-02-19 19:11:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404871"	"00403631"	"1"	"00000"	"03840"	"2022-02-19 19:11:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404872"	"00403632"	"1"	"00000"	"03840"	"2022-02-19 19:11:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404922"	"00403683"	"1"	"00000"	"03840"	"2022-02-20 14:50:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404923"	"00403684"	"1"	"00000"	"03840"	"2022-02-20 14:50:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404935"	"00403698"	"1"	"00000"	"03840"	"2022-02-21 11:18:07"	""	""	"?"	"DNA"	""	""
"0000404936"	"00403699"	"1"	"00000"	"03840"	"2022-02-21 11:18:07"	""	""	"?"	"DNA"	""	""
"0000404937"	"00403700"	"1"	"00000"	"03840"	"2022-02-21 11:18:07"	""	""	"?"	"DNA"	""	""
"0000404938"	"00403701"	"1"	"00000"	"03840"	"2022-02-21 11:18:07"	""	""	"?"	"DNA"	""	""
"0000404939"	"00403702"	"1"	"00000"	"03840"	"2022-02-21 11:18:07"	""	""	"?"	"DNA"	""	""
"0000404940"	"00403703"	"1"	"00000"	"03840"	"2022-02-21 11:18:07"	""	""	"?"	"DNA"	""	""
"0000404941"	"00403704"	"1"	"00000"	"03840"	"2022-02-21 11:18:07"	""	""	"?"	"DNA"	""	""
"0000404942"	"00403705"	"1"	"00000"	"03840"	"2022-02-21 11:18:07"	""	""	"?"	"DNA"	""	""
"0000404943"	"00403706"	"1"	"00000"	"03840"	"2022-02-21 11:18:07"	""	""	"?"	"DNA"	""	""
"0000404944"	"00403707"	"1"	"00000"	"03840"	"2022-02-21 11:18:07"	""	""	"?"	"DNA"	""	""
"0000404945"	"00403708"	"1"	"00000"	"03840"	"2022-02-21 11:18:07"	""	""	"?"	"DNA"	""	""
"0000404946"	"00403709"	"1"	"00000"	"03840"	"2022-02-21 11:18:07"	""	""	"?"	"DNA"	""	""
"0000404947"	"00403710"	"1"	"00000"	"03840"	"2022-02-21 11:18:07"	""	""	"?"	"DNA"	""	""
"0000404948"	"00403711"	"1"	"00000"	"03840"	"2022-02-21 11:18:07"	""	""	"?"	"DNA"	""	""
"0000404949"	"00403712"	"1"	"00000"	"03840"	"2022-02-21 11:18:07"	""	""	"?"	"DNA"	""	""
"0000404965"	"00403728"	"1"	"00000"	"03840"	"2022-02-21 13:54:28"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404966"	"00403729"	"1"	"00000"	"03840"	"2022-02-21 13:54:28"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404967"	"00403730"	"1"	"00000"	"03840"	"2022-02-21 13:54:28"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404968"	"00403731"	"1"	"00000"	"03840"	"2022-02-21 13:54:28"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404969"	"00403732"	"1"	"00000"	"03840"	"2022-02-21 13:54:28"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404970"	"00403733"	"1"	"00000"	"03840"	"2022-02-21 13:54:28"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404971"	"00403734"	"1"	"00000"	"03840"	"2022-02-21 13:54:28"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404972"	"00403735"	"1"	"00000"	"03840"	"2022-02-21 13:54:28"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404973"	"00403736"	"1"	"00000"	"03840"	"2022-02-21 13:54:28"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404974"	"00403737"	"1"	"00000"	"03840"	"2022-02-21 13:54:28"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404975"	"00403738"	"1"	"00000"	"03840"	"2022-02-21 13:54:28"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404976"	"00403739"	"1"	"00000"	"03840"	"2022-02-21 13:54:28"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404977"	"00403740"	"1"	"00000"	"03840"	"2022-02-21 13:54:28"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404978"	"00403741"	"1"	"00000"	"03840"	"2022-02-21 13:54:28"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404979"	"00403742"	"1"	"00000"	"03840"	"2022-02-21 13:54:28"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404980"	"00403743"	"1"	"00000"	"03840"	"2022-02-21 13:54:28"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404981"	"00403744"	"1"	"00000"	"03840"	"2022-02-21 13:54:28"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404982"	"00403745"	"1"	"00000"	"03840"	"2022-02-21 13:54:28"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404983"	"00403746"	"1"	"00000"	"03840"	"2022-02-21 13:54:28"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404984"	"00403747"	"1"	"00000"	"03840"	"2022-02-21 13:54:28"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404985"	"00403748"	"1"	"00000"	"03840"	"2022-02-21 13:54:28"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404991"	"00403753"	"1"	"00000"	"03840"	"2022-02-21 15:24:56"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404992"	"00403754"	"1"	"00000"	"03840"	"2022-02-21 15:24:56"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404993"	"00403755"	"1"	"00000"	"03840"	"2022-02-21 15:24:56"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404994"	"00403756"	"1"	"00000"	"03840"	"2022-02-21 15:24:56"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404995"	"00403757"	"1"	"00000"	"03840"	"2022-02-21 15:24:56"	""	""	"SEQ"	"DNA"	"blood"	""
"0000404996"	"00403758"	"1"	"00000"	"03840"	"2022-02-21 15:24:56"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405010"	"00403773"	"1"	"00000"	"03840"	"2022-02-22 17:37:11"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405029"	"00403792"	"1"	"00000"	"03840"	"2022-02-22 19:49:20"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405030"	"00403793"	"1"	"00000"	"03840"	"2022-02-22 19:49:20"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405031"	"00403794"	"1"	"00000"	"03840"	"2022-02-22 19:49:20"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405039"	"00403802"	"1"	"00000"	"03840"	"2022-02-23 10:05:56"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405047"	"00403810"	"1"	"00000"	"03840"	"2022-02-23 11:57:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405048"	"00403811"	"1"	"00000"	"03840"	"2022-02-23 11:57:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405056"	"00403818"	"1"	"00000"	"03840"	"2022-02-24 07:05:02"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405057"	"00403819"	"1"	"00000"	"03840"	"2022-02-24 07:05:02"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405058"	"00403820"	"1"	"00000"	"03840"	"2022-02-24 07:05:02"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405059"	"00403821"	"1"	"00000"	"03840"	"2022-02-24 07:05:02"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405061"	"00403823"	"1"	"00000"	"03840"	"2022-02-24 11:21:18"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405062"	"00403824"	"1"	"00000"	"03840"	"2022-02-24 11:21:18"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405063"	"00403825"	"1"	"00000"	"03840"	"2022-02-24 11:21:18"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405290"	"00404051"	"1"	"00000"	"03840"	"2022-02-25 15:55:14"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405291"	"00404052"	"1"	"00000"	"03840"	"2022-02-25 15:55:14"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405292"	"00404053"	"1"	"00000"	"03840"	"2022-02-25 15:55:14"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405293"	"00404054"	"1"	"00000"	"03840"	"2022-02-25 15:55:14"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405294"	"00404055"	"1"	"00000"	"03840"	"2022-02-25 15:55:14"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405295"	"00404056"	"1"	"00000"	"03840"	"2022-02-25 15:55:14"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405296"	"00404057"	"1"	"00000"	"03840"	"2022-02-25 15:55:14"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405304"	"00404068"	"1"	"00000"	"03840"	"2022-02-25 21:42:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405305"	"00404069"	"1"	"00000"	"03840"	"2022-02-25 21:42:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405306"	"00404070"	"1"	"00000"	"03840"	"2022-02-25 21:42:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405307"	"00404071"	"1"	"00000"	"03840"	"2022-02-25 21:42:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405308"	"00404072"	"1"	"00000"	"03840"	"2022-02-25 21:42:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405309"	"00404073"	"1"	"00000"	"03840"	"2022-02-25 21:42:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405328"	"00404091"	"1"	"00000"	"03840"	"2022-02-26 19:11:07"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405329"	"00404092"	"1"	"00000"	"03840"	"2022-02-26 19:11:07"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405330"	"00404093"	"1"	"00000"	"03840"	"2022-02-26 19:11:07"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405331"	"00404094"	"1"	"00000"	"03840"	"2022-02-26 19:11:07"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405363"	"00404125"	"1"	"00000"	"03840"	"2022-02-27 23:25:19"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405364"	"00404126"	"1"	"00000"	"03840"	"2022-02-27 23:25:19"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405365"	"00404127"	"1"	"00000"	"03840"	"2022-02-27 23:25:19"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405366"	"00404128"	"1"	"00000"	"03840"	"2022-02-27 23:25:19"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405367"	"00404129"	"1"	"00000"	"03840"	"2022-02-27 23:25:19"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405510"	"00404271"	"1"	"00000"	"03840"	"2022-02-28 11:33:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405511"	"00404272"	"1"	"00000"	"03840"	"2022-02-28 12:07:16"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405512"	"00404273"	"1"	"00000"	"03840"	"2022-02-28 12:07:16"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405513"	"00404274"	"1"	"00000"	"03840"	"2022-02-28 12:07:16"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405514"	"00404275"	"1"	"00000"	"03840"	"2022-02-28 12:07:16"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405515"	"00404276"	"1"	"00000"	"03840"	"2022-02-28 12:07:16"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405516"	"00404277"	"1"	"00000"	"03840"	"2022-02-28 12:07:16"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405517"	"00404278"	"1"	"00000"	"03840"	"2022-02-28 12:07:16"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405518"	"00404279"	"1"	"00000"	"03840"	"2022-02-28 12:07:16"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405519"	"00404280"	"1"	"00000"	"03840"	"2022-02-28 12:07:16"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405520"	"00404281"	"1"	"00000"	"03840"	"2022-02-28 12:07:16"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405521"	"00404282"	"1"	"00000"	"03840"	"2022-02-28 12:07:16"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405522"	"00404283"	"1"	"00000"	"03840"	"2022-02-28 12:07:16"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405523"	"00404284"	"1"	"00000"	"03840"	"2022-02-28 12:07:16"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405524"	"00404285"	"1"	"00000"	"03840"	"2022-02-28 12:07:16"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405525"	"00404286"	"1"	"00000"	"03840"	"2022-02-28 12:07:16"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405527"	"00404288"	"1"	"00000"	"03840"	"2022-02-28 13:08:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405528"	"00404289"	"1"	"00000"	"03840"	"2022-02-28 13:08:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405529"	"00404290"	"1"	"00000"	"03840"	"2022-02-28 14:15:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405530"	"00404291"	"1"	"00000"	"03840"	"2022-02-28 14:15:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405531"	"00404292"	"1"	"00000"	"03840"	"2022-02-28 14:15:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405532"	"00404293"	"1"	"00000"	"03840"	"2022-02-28 14:59:00"	""	""	"SEQ"	"DNA"	""	""
"0000405533"	"00404294"	"1"	"00000"	"03840"	"2022-02-28 18:04:03"	""	""	"SEQ"	"DNA"	""	""
"0000405534"	"00404295"	"1"	"00000"	"03840"	"2022-02-28 18:04:03"	""	""	"SEQ"	"DNA"	""	""
"0000405535"	"00404296"	"1"	"00000"	"03840"	"2022-02-28 18:04:03"	""	""	"SEQ"	"DNA"	""	""
"0000405536"	"00404297"	"1"	"00000"	"03840"	"2022-02-28 18:04:03"	""	""	"SEQ"	"DNA"	""	""
"0000405537"	"00404298"	"1"	"00000"	"03840"	"2022-02-28 18:04:03"	""	""	"SEQ"	"DNA"	""	""
"0000405538"	"00404299"	"1"	"00000"	"03840"	"2022-02-28 18:04:03"	""	""	"SEQ"	"DNA"	""	""
"0000405539"	"00404300"	"1"	"00000"	"03840"	"2022-02-28 18:04:03"	""	""	"SEQ"	"DNA"	""	""
"0000405540"	"00404301"	"1"	"00000"	"03840"	"2022-02-28 18:04:03"	""	""	"SEQ"	"DNA"	""	""
"0000405541"	"00404302"	"1"	"00000"	"03840"	"2022-02-28 18:04:03"	""	""	"SEQ"	"DNA"	""	""
"0000405542"	"00404303"	"1"	"00000"	"03840"	"2022-02-28 18:04:03"	""	""	"SEQ"	"DNA"	""	""
"0000405543"	"00404304"	"1"	"00000"	"03840"	"2022-02-28 18:04:03"	""	""	"SEQ"	"DNA"	""	""
"0000405544"	"00404305"	"1"	"00000"	"03840"	"2022-02-28 18:04:03"	""	""	"SEQ"	"DNA"	""	""
"0000405545"	"00404306"	"1"	"00000"	"03840"	"2022-02-28 18:04:03"	""	""	"SEQ"	"DNA"	""	""
"0000405546"	"00404307"	"1"	"00000"	"03840"	"2022-02-28 18:04:03"	""	""	"SEQ"	"DNA"	""	""
"0000405547"	"00404308"	"1"	"00000"	"03840"	"2022-02-28 18:04:03"	""	""	"SEQ"	"DNA"	""	""
"0000405548"	"00404309"	"1"	"00000"	"03840"	"2022-02-28 18:04:03"	""	""	"SEQ"	"DNA"	""	""
"0000405549"	"00404310"	"1"	"00000"	"03840"	"2022-02-28 18:04:03"	""	""	"SEQ"	"DNA"	""	""
"0000405550"	"00404311"	"1"	"00000"	"03840"	"2022-02-28 18:04:03"	""	""	"SEQ"	"DNA"	""	""
"0000405572"	"00404333"	"1"	"00000"	"03840"	"2022-03-01 13:46:31"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405573"	"00404334"	"1"	"00000"	"03840"	"2022-03-01 13:46:31"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405574"	"00404335"	"1"	"00000"	"03840"	"2022-03-01 13:46:31"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405575"	"00404336"	"1"	"00000"	"03840"	"2022-03-01 13:46:31"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405576"	"00404337"	"1"	"00000"	"03840"	"2022-03-01 13:46:31"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405577"	"00404338"	"1"	"00000"	"03840"	"2022-03-01 13:46:31"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405578"	"00404339"	"1"	"00000"	"03840"	"2022-03-01 13:46:31"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405579"	"00404340"	"1"	"00000"	"03840"	"2022-03-01 13:46:31"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405580"	"00404341"	"1"	"00000"	"03840"	"2022-03-01 13:46:31"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405581"	"00404342"	"1"	"00000"	"03840"	"2022-03-01 13:46:31"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405582"	"00404343"	"1"	"00000"	"03840"	"2022-03-01 13:46:31"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405583"	"00404344"	"1"	"00000"	"03840"	"2022-03-01 13:46:31"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405584"	"00404345"	"1"	"00000"	"03840"	"2022-03-01 13:46:31"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405585"	"00404346"	"1"	"00000"	"03840"	"2022-03-01 13:46:31"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405586"	"00404347"	"1"	"00000"	"03840"	"2022-03-01 13:46:31"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405587"	"00404348"	"1"	"00000"	"03840"	"2022-03-01 13:46:31"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405588"	"00404349"	"1"	"00000"	"03840"	"2022-03-01 13:46:31"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405589"	"00404350"	"1"	"00000"	"03840"	"2022-03-01 13:46:31"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405590"	"00404351"	"1"	"00000"	"03840"	"2022-03-01 13:46:31"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405593"	"00404354"	"1"	"00000"	"03840"	"2022-03-01 14:41:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405594"	"00404355"	"1"	"00000"	"03840"	"2022-03-01 14:41:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405595"	"00404356"	"1"	"00000"	"03840"	"2022-03-01 14:41:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405596"	"00404357"	"1"	"00000"	"03840"	"2022-03-01 14:41:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405689"	"00404450"	"1"	"00000"	"03840"	"2022-03-02 13:57:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405690"	"00404451"	"1"	"00000"	"03840"	"2022-03-02 13:57:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405691"	"00404452"	"1"	"00000"	"03840"	"2022-03-02 14:59:23"	""	""	"SEQ"	"DNA"	""	""
"0000405692"	"00404453"	"1"	"00000"	"03840"	"2022-03-02 14:59:23"	""	""	"SEQ"	"DNA"	""	""
"0000405693"	"00404454"	"1"	"00000"	"03840"	"2022-03-02 14:59:23"	""	""	"SEQ"	"DNA"	""	""
"0000405694"	"00404455"	"1"	"00000"	"03840"	"2022-03-02 14:59:23"	""	""	"SEQ"	"DNA"	""	""
"0000405695"	"00404456"	"1"	"00000"	"03840"	"2022-03-02 14:59:23"	""	""	"SEQ"	"DNA"	""	""
"0000405696"	"00404457"	"1"	"00000"	"03840"	"2022-03-02 14:59:23"	""	""	"SEQ"	"DNA"	""	""
"0000405697"	"00404458"	"1"	"00000"	"03840"	"2022-03-02 14:59:23"	""	""	"SEQ"	"DNA"	""	""
"0000405698"	"00404459"	"1"	"00000"	"03840"	"2022-03-02 14:59:23"	""	""	"SEQ"	"DNA"	""	""
"0000405699"	"00404460"	"1"	"00000"	"03840"	"2022-03-02 14:59:23"	""	""	"SEQ"	"DNA"	""	""
"0000405700"	"00404461"	"1"	"00000"	"03840"	"2022-03-02 14:59:23"	""	""	"SEQ"	"DNA"	""	""
"0000405701"	"00404462"	"1"	"00000"	"03840"	"2022-03-02 14:59:23"	""	""	"SEQ"	"DNA"	""	""
"0000405702"	"00404463"	"1"	"00000"	"03840"	"2022-03-02 14:59:23"	""	""	"SEQ"	"DNA"	""	""
"0000405703"	"00404464"	"1"	"00000"	"03840"	"2022-03-02 14:59:23"	""	""	"SEQ"	"DNA"	""	""
"0000405704"	"00404465"	"1"	"00000"	"03840"	"2022-03-02 14:59:23"	""	""	"SEQ"	"DNA"	""	""
"0000405705"	"00404466"	"1"	"00000"	"03840"	"2022-03-02 14:59:23"	""	""	"SEQ"	"DNA"	""	""
"0000405706"	"00404467"	"1"	"00000"	"03840"	"2022-03-02 14:59:23"	""	""	"SEQ"	"DNA"	""	""
"0000405707"	"00404468"	"1"	"00000"	"03840"	"2022-03-02 14:59:23"	""	""	"SEQ"	"DNA"	""	""
"0000405708"	"00404469"	"1"	"00000"	"03840"	"2022-03-02 14:59:23"	""	""	"SEQ"	"DNA"	""	""
"0000405709"	"00404470"	"1"	"00000"	"03840"	"2022-03-02 14:59:23"	""	""	"SEQ"	"DNA"	""	""
"0000405710"	"00404471"	"1"	"00000"	"03840"	"2022-03-02 14:59:23"	""	""	"SEQ"	"DNA"	""	""
"0000405711"	"00404472"	"1"	"00000"	"03840"	"2022-03-02 14:59:23"	""	""	"SEQ"	"DNA"	""	""
"0000405712"	"00404473"	"1"	"00000"	"03840"	"2022-03-02 14:59:23"	""	""	"SEQ"	"DNA"	""	""
"0000405713"	"00404474"	"1"	"00000"	"03840"	"2022-03-02 14:59:23"	""	""	"SEQ"	"DNA"	""	""
"0000405714"	"00404475"	"1"	"00000"	"03840"	"2022-03-02 14:59:23"	""	""	"SEQ"	"DNA"	""	""
"0000405715"	"00404476"	"1"	"00000"	"03840"	"2022-03-02 14:59:23"	""	""	"SEQ"	"DNA"	""	""
"0000405716"	"00404477"	"1"	"00000"	"03840"	"2022-03-02 14:59:23"	""	""	"SEQ"	"DNA"	""	""
"0000405717"	"00404478"	"1"	"00000"	"03840"	"2022-03-02 14:59:23"	""	""	"SEQ"	"DNA"	""	""
"0000405718"	"00404479"	"1"	"00000"	"03840"	"2022-03-02 14:59:23"	""	""	"SEQ"	"DNA"	""	""
"0000405719"	"00404480"	"1"	"00000"	"03840"	"2022-03-02 14:59:23"	""	""	"SEQ"	"DNA"	""	""
"0000405720"	"00404481"	"1"	"00000"	"03840"	"2022-03-02 14:59:23"	""	""	"SEQ"	"DNA"	""	""
"0000405721"	"00404482"	"1"	"00000"	"03840"	"2022-03-02 14:59:23"	""	""	"SEQ"	"DNA"	""	""
"0000405722"	"00404483"	"1"	"00000"	"03840"	"2022-03-02 14:59:23"	""	""	"SEQ"	"DNA"	""	""
"0000405723"	"00404484"	"1"	"00000"	"03840"	"2022-03-02 14:59:23"	""	""	"SEQ"	"DNA"	""	""
"0000405724"	"00404485"	"1"	"00000"	"03840"	"2022-03-02 14:59:23"	""	""	"SEQ"	"DNA"	""	""
"0000405725"	"00404486"	"1"	"00000"	"03840"	"2022-03-02 14:59:23"	""	""	"SEQ"	"DNA"	""	""
"0000405726"	"00404487"	"1"	"00000"	"03840"	"2022-03-02 14:59:23"	""	""	"SEQ"	"DNA"	""	""
"0000405727"	"00404488"	"1"	"00000"	"03840"	"2022-03-02 14:59:23"	""	""	"SEQ"	"DNA"	""	""
"0000405728"	"00404489"	"1"	"00000"	"03840"	"2022-03-02 14:59:23"	""	""	"SEQ"	"DNA"	""	""
"0000405729"	"00404490"	"1"	"00000"	"03840"	"2022-03-02 14:59:23"	""	""	"SEQ"	"DNA"	""	""
"0000405730"	"00404491"	"1"	"00000"	"03840"	"2022-03-02 20:25:33"	""	""	"SEQ"	"DNA"	""	""
"0000405731"	"00404492"	"1"	"00000"	"03840"	"2022-03-02 20:25:33"	""	""	"SEQ"	"DNA"	""	""
"0000405788"	"00404549"	"1"	"00000"	"03840"	"2022-03-03 14:07:53"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405789"	"00404550"	"1"	"00000"	"03840"	"2022-03-03 14:07:53"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405790"	"00404551"	"1"	"00000"	"03840"	"2022-03-03 14:07:53"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405791"	"00404552"	"1"	"00000"	"03840"	"2022-03-03 14:07:53"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405792"	"00404553"	"1"	"00000"	"03840"	"2022-03-03 14:07:53"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405793"	"00404554"	"1"	"00000"	"03840"	"2022-03-03 14:07:53"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405794"	"00404555"	"1"	"00000"	"03840"	"2022-03-03 14:07:53"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405795"	"00404556"	"1"	"00000"	"03840"	"2022-03-03 14:07:53"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405796"	"00404557"	"1"	"00000"	"03840"	"2022-03-03 14:07:53"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405797"	"00404558"	"1"	"00000"	"03840"	"2022-03-03 14:07:53"	""	""	"SEQ"	"DNA"	"blood"	""
"0000405798"	"00404559"	"1"	"00000"	"03840"	"2022-03-03 14:12:38"	""	""	"SEQ"	"DNA"	""	""
"0000405799"	"00404560"	"1"	"00000"	"03840"	"2022-03-03 14:12:38"	""	""	"SEQ"	"DNA"	""	""
"0000405800"	"00404561"	"1"	"00000"	"03840"	"2022-03-03 14:12:38"	""	""	"SEQ"	"DNA"	""	""
"0000405801"	"00404562"	"1"	"00000"	"03840"	"2022-03-03 14:12:38"	""	""	"SEQ"	"DNA"	""	""
"0000405802"	"00404563"	"1"	"00000"	"03840"	"2022-03-03 14:12:38"	""	""	"SEQ"	"DNA"	""	""
"0000405960"	"00404720"	"1"	"00000"	"03840"	"2022-03-07 10:40:35"	""	""	"RFLP"	"DNA"	""	""
"0000405961"	"00404721"	"1"	"00000"	"03840"	"2022-03-07 10:40:35"	""	""	"RFLP"	"DNA"	""	""
"0000405962"	"00404722"	"1"	"00000"	"03840"	"2022-03-07 10:40:35"	""	""	"RFLP"	"DNA"	""	""
"0000405963"	"00404723"	"1"	"00000"	"03840"	"2022-03-07 10:40:35"	""	""	"RFLP"	"DNA"	""	""
"0000405965"	"00404725"	"1"	"00000"	"03840"	"2022-03-07 13:26:28"	""	""	"SEQ"	"DNA"	""	""
"0000405966"	"00404726"	"1"	"00000"	"03840"	"2022-03-07 13:26:28"	""	""	"SEQ"	"DNA"	""	""
"0000405967"	"00404727"	"1"	"00000"	"03840"	"2022-03-07 13:26:28"	""	""	"SEQ"	"DNA"	""	""
"0000405968"	"00404728"	"1"	"00000"	"03840"	"2022-03-07 13:26:28"	""	""	"SEQ"	"DNA"	""	""
"0000405970"	"00404730"	"1"	"00000"	"03840"	"2022-03-07 14:49:09"	""	""	"SEQ"	"DNA"	""	""
"0000405971"	"00404731"	"1"	"00000"	"03840"	"2022-03-07 14:49:09"	""	""	"SEQ"	"DNA"	""	""
"0000405972"	"00404732"	"1"	"00000"	"03840"	"2022-03-07 14:49:09"	""	""	"SEQ"	"DNA"	""	""
"0000405973"	"00404733"	"1"	"00000"	"03840"	"2022-03-07 14:49:09"	""	""	"SEQ"	"DNA"	""	""
"0000405974"	"00404734"	"1"	"00000"	"03840"	"2022-03-07 14:49:09"	""	""	"SEQ"	"DNA"	""	""
"0000405975"	"00404735"	"1"	"00000"	"03840"	"2022-03-07 14:49:09"	""	""	"SEQ"	"DNA"	""	""
"0000405976"	"00404736"	"1"	"00000"	"03840"	"2022-03-07 14:49:09"	""	""	"SEQ"	"DNA"	""	""
"0000405977"	"00404737"	"1"	"00000"	"03840"	"2022-03-07 14:49:09"	""	""	"SEQ"	"DNA"	""	""
"0000405978"	"00404738"	"1"	"00000"	"03840"	"2022-03-07 14:49:09"	""	""	"SEQ"	"DNA"	""	""
"0000405979"	"00404739"	"1"	"00000"	"03840"	"2022-03-07 14:49:09"	""	""	"SEQ"	"DNA"	""	""
"0000405980"	"00404740"	"1"	"00000"	"03840"	"2022-03-07 14:49:09"	""	""	"SEQ"	"DNA"	""	""
"0000405981"	"00404741"	"1"	"00000"	"03840"	"2022-03-07 14:49:09"	""	""	"SEQ"	"DNA"	""	""
"0000405982"	"00404742"	"1"	"00000"	"03840"	"2022-03-07 14:49:09"	""	""	"SEQ"	"DNA"	""	""
"0000405989"	"00404749"	"1"	"00000"	"03840"	"2022-03-07 15:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000405990"	"00404750"	"1"	"00000"	"03840"	"2022-03-07 15:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000405991"	"00404751"	"1"	"00000"	"03840"	"2022-03-07 15:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000405992"	"00404752"	"1"	"00000"	"03840"	"2022-03-07 15:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000405993"	"00404753"	"1"	"00000"	"03840"	"2022-03-07 15:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000405994"	"00404754"	"1"	"00000"	"03840"	"2022-03-07 15:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000405995"	"00404755"	"1"	"00000"	"03840"	"2022-03-07 15:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000405996"	"00404756"	"1"	"00000"	"03840"	"2022-03-07 15:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000405997"	"00404757"	"1"	"00000"	"03840"	"2022-03-07 15:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000405998"	"00404758"	"1"	"00000"	"03840"	"2022-03-07 15:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000405999"	"00404759"	"1"	"00000"	"03840"	"2022-03-07 15:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000406000"	"00404760"	"1"	"00000"	"03840"	"2022-03-07 15:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000406001"	"00404761"	"1"	"00000"	"03840"	"2022-03-07 15:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000406002"	"00404762"	"1"	"00000"	"03840"	"2022-03-07 15:58:24"	""	""	"SEQ"	"DNA"	""	""
"0000406003"	"00404763"	"1"	"00000"	"03840"	"2022-03-07 20:08:52"	""	""	"SEQ-NG"	"DNA"	""	""
"0000406004"	"00404764"	"1"	"00000"	"03840"	"2022-03-07 20:08:52"	""	""	"SEQ-NG"	"DNA"	""	""
"0000406005"	"00404765"	"1"	"00000"	"03840"	"2022-03-07 20:08:52"	""	""	"SEQ-NG"	"DNA"	""	""
"0000406006"	"00404766"	"1"	"00000"	"03840"	"2022-03-07 20:08:52"	""	""	"SEQ-NG"	"DNA"	""	""
"0000406007"	"00404767"	"1"	"00000"	"03840"	"2022-03-07 20:08:52"	""	""	"SEQ-NG"	"DNA"	""	""
"0000406008"	"00404768"	"1"	"00000"	"03840"	"2022-03-07 20:08:52"	""	""	"SEQ-NG"	"DNA"	""	""
"0000406009"	"00404769"	"1"	"00000"	"03840"	"2022-03-07 20:08:52"	""	""	"SEQ-NG"	"DNA"	""	""
"0000406010"	"00404770"	"1"	"00000"	"03840"	"2022-03-07 20:08:52"	""	""	"SEQ-NG"	"DNA"	""	""
"0000406011"	"00404771"	"1"	"00000"	"03840"	"2022-03-07 20:08:52"	""	""	"SEQ-NG"	"DNA"	""	""
"0000406012"	"00404772"	"1"	"00000"	"03840"	"2022-03-07 20:08:52"	""	""	"SEQ-NG"	"DNA"	""	""
"0000406013"	"00404773"	"1"	"00000"	"03840"	"2022-03-07 20:08:52"	""	""	"SEQ-NG"	"DNA"	""	""
"0000406014"	"00404774"	"1"	"00000"	"03840"	"2022-03-07 20:08:52"	""	""	"SEQ-NG"	"DNA"	""	""
"0000406015"	"00404775"	"1"	"00000"	"03840"	"2022-03-07 20:08:52"	""	""	"SEQ-NG"	"DNA"	""	""
"0000406016"	"00404776"	"1"	"00000"	"03840"	"2022-03-07 20:08:52"	""	""	"SEQ-NG"	"DNA"	""	""
"0000406017"	"00404777"	"1"	"00000"	"03840"	"2022-03-07 20:08:52"	""	""	"SEQ-NG"	"DNA"	""	""
"0000406018"	"00404778"	"1"	"00000"	"03840"	"2022-03-07 20:08:52"	""	""	"SEQ-NG"	"DNA"	""	""
"0000406019"	"00404779"	"1"	"00000"	"03840"	"2022-03-07 20:08:52"	""	""	"SEQ-NG"	"DNA"	""	""
"0000406020"	"00404780"	"1"	"00000"	"03840"	"2022-03-07 20:08:52"	""	""	"SEQ-NG"	"DNA"	""	""
"0000406021"	"00404781"	"1"	"00000"	"03840"	"2022-03-07 20:08:52"	""	""	"SEQ-NG"	"DNA"	""	""
"0000406022"	"00404782"	"1"	"00000"	"03840"	"2022-03-07 20:08:52"	""	""	"SEQ-NG"	"DNA"	""	""
"0000406023"	"00404783"	"1"	"00000"	"03840"	"2022-03-07 20:08:52"	""	""	"SEQ-NG"	"DNA"	""	""
"0000406024"	"00404784"	"1"	"00000"	"03840"	"2022-03-07 20:55:23"	""	""	"SEQ"	"DNA"	""	""
"0000406027"	"00404788"	"1"	"00000"	"03840"	"2022-03-08 14:21:35"	""	""	"SEQ"	"DNA"	""	""
"0000406028"	"00404789"	"1"	"00000"	"03840"	"2022-03-08 14:21:35"	""	""	"SEQ"	"DNA"	""	""
"0000406029"	"00404790"	"1"	"00000"	"03840"	"2022-03-08 14:21:35"	""	""	"SEQ"	"DNA"	""	""
"0000406030"	"00404791"	"1"	"00000"	"03840"	"2022-03-08 14:21:35"	""	""	"SEQ"	"DNA"	""	""
"0000406031"	"00404792"	"1"	"00000"	"03840"	"2022-03-08 14:21:35"	""	""	"SEQ"	"DNA"	""	""
"0000406032"	"00404793"	"1"	"00000"	"03840"	"2022-03-08 14:21:35"	""	""	"SEQ"	"DNA"	""	""
"0000406034"	"00404795"	"1"	"00000"	"03840"	"2022-03-08 14:59:41"	""	""	"SEQ"	"DNA"	""	""
"0000406050"	"00404810"	"1"	"00000"	"03840"	"2022-03-09 11:24:21"	""	""	"SEQ"	"DNA"	""	""
"0000406051"	"00404811"	"1"	"00000"	"03840"	"2022-03-09 11:24:21"	""	""	"SEQ"	"DNA"	""	""
"0000406052"	"00404812"	"1"	"00000"	"03840"	"2022-03-09 11:24:21"	""	""	"SEQ"	"DNA"	""	""
"0000406053"	"00404813"	"1"	"00000"	"03840"	"2022-03-09 11:24:21"	""	""	"SEQ"	"DNA"	""	""
"0000406054"	"00404814"	"1"	"00000"	"03840"	"2022-03-09 11:24:21"	""	""	"SEQ"	"DNA"	""	""
"0000406076"	"00404836"	"1"	"00000"	"03840"	"2022-03-09 12:01:58"	""	""	"SEQ"	"DNA"	""	""
"0000406077"	"00404837"	"1"	"00000"	"03840"	"2022-03-09 12:01:58"	""	""	"SEQ"	"DNA"	""	""
"0000406078"	"00404838"	"1"	"00000"	"03840"	"2022-03-09 12:01:58"	""	""	"SEQ"	"DNA"	""	""
"0000406079"	"00404839"	"1"	"00000"	"03840"	"2022-03-09 12:25:10"	""	""	"SEQ"	"DNA"	""	""
"0000406080"	"00404840"	"1"	"00000"	"03840"	"2022-03-09 12:25:10"	""	""	"SEQ"	"DNA"	""	""
"0000406081"	"00404841"	"1"	"00000"	"03840"	"2022-03-09 13:01:11"	""	""	"SEQ"	"DNA"	""	""
"0000406082"	"00404842"	"1"	"00000"	"03840"	"2022-03-09 13:29:02"	""	""	"SEQ-NG"	"DNA"	""	"panel of 12 other genes known to cause inherited maculopathies"
"0000406083"	"00404843"	"1"	"00000"	"03840"	"2022-03-09 14:17:37"	""	""	"?"	"DNA"	""	""
"0000406084"	"00404844"	"1"	"00000"	"03840"	"2022-03-09 14:49:28"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406085"	"00404845"	"1"	"00000"	"03840"	"2022-03-09 14:49:28"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406086"	"00404846"	"1"	"00000"	"03840"	"2022-03-09 14:49:28"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406087"	"00404847"	"1"	"00000"	"03840"	"2022-03-09 15:17:42"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406088"	"00404848"	"1"	"00000"	"03840"	"2022-03-09 15:17:42"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406089"	"00404849"	"1"	"00000"	"03840"	"2022-03-09 16:53:52"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406090"	"00404850"	"1"	"00000"	"03840"	"2022-03-09 16:53:52"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406091"	"00404851"	"1"	"00000"	"03840"	"2022-03-09 16:53:52"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406106"	"00404866"	"1"	"00000"	"03840"	"2022-03-09 19:57:47"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406107"	"00404867"	"1"	"00000"	"03840"	"2022-03-09 19:57:47"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406108"	"00404868"	"1"	"00000"	"03840"	"2022-03-09 19:57:47"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406109"	"00404869"	"1"	"00000"	"03840"	"2022-03-09 19:57:47"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406110"	"00404870"	"1"	"00000"	"03840"	"2022-03-09 19:57:47"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406128"	"00404889"	"1"	"00000"	"03840"	"2022-03-10 11:25:24"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406129"	"00404890"	"1"	"00000"	"03840"	"2022-03-10 12:00:18"	""	""	"SEQ"	"DNA"	""	""
"0000406130"	"00404891"	"1"	"00000"	"03840"	"2022-03-10 12:00:18"	""	""	"SEQ"	"DNA"	""	""
"0000406131"	"00404892"	"1"	"00000"	"03840"	"2022-03-10 12:00:18"	""	""	"SEQ"	"DNA"	""	""
"0000406132"	"00404893"	"1"	"00000"	"03840"	"2022-03-10 12:00:18"	""	""	"SEQ"	"DNA"	""	""
"0000406133"	"00404894"	"1"	"00000"	"03840"	"2022-03-10 12:00:18"	""	""	"SEQ"	"DNA"	""	""
"0000406134"	"00404895"	"1"	"00000"	"03840"	"2022-03-10 12:00:18"	""	""	"SEQ"	"DNA"	""	""
"0000406135"	"00404896"	"1"	"00000"	"03840"	"2022-03-10 12:00:18"	""	""	"SEQ"	"DNA"	""	""
"0000406136"	"00404897"	"1"	"00000"	"03840"	"2022-03-10 12:00:18"	""	""	"SEQ"	"DNA"	""	""
"0000406137"	"00404898"	"1"	"00000"	"03840"	"2022-03-10 12:00:18"	""	""	"SEQ"	"DNA"	""	""
"0000406138"	"00404899"	"1"	"00000"	"03840"	"2022-03-10 14:21:11"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406177"	"00404939"	"1"	"00000"	"03840"	"2022-03-11 11:14:03"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406178"	"00404940"	"1"	"00000"	"03840"	"2022-03-11 11:14:03"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406179"	"00404941"	"1"	"00000"	"03840"	"2022-03-11 11:14:03"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406180"	"00404942"	"1"	"00000"	"03840"	"2022-03-11 11:14:03"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406181"	"00404943"	"1"	"00000"	"03840"	"2022-03-11 11:14:03"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406182"	"00404944"	"1"	"00000"	"03840"	"2022-03-11 11:14:03"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406183"	"00404945"	"1"	"00000"	"03840"	"2022-03-11 11:14:03"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406184"	"00404946"	"1"	"00000"	"03840"	"2022-03-11 11:14:03"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406185"	"00404947"	"1"	"00000"	"03840"	"2022-03-11 11:14:03"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406186"	"00404948"	"1"	"00000"	"03840"	"2022-03-11 11:49:24"	""	""	"SEQ"	"DNA"	""	""
"0000406187"	"00404949"	"1"	"00000"	"03840"	"2022-03-11 11:49:24"	""	""	"SEQ"	"DNA"	""	""
"0000406188"	"00404950"	"1"	"00000"	"03840"	"2022-03-11 11:49:24"	""	""	"SEQ"	"DNA"	""	""
"0000406189"	"00404951"	"1"	"00000"	"03840"	"2022-03-11 11:49:24"	""	""	"SEQ"	"DNA"	""	""
"0000406190"	"00404952"	"1"	"00000"	"03840"	"2022-03-11 11:49:24"	""	""	"SEQ"	"DNA"	""	""
"0000406191"	"00404953"	"1"	"00000"	"03840"	"2022-03-11 11:49:24"	""	""	"SEQ"	"DNA"	""	""
"0000406192"	"00404954"	"1"	"00000"	"03840"	"2022-03-11 11:49:24"	""	""	"SEQ"	"DNA"	""	""
"0000406193"	"00404955"	"1"	"00000"	"03840"	"2022-03-11 11:49:24"	""	""	"SEQ"	"DNA"	""	""
"0000406194"	"00404956"	"1"	"00000"	"03840"	"2022-03-11 11:49:24"	""	""	"SEQ"	"DNA"	""	""
"0000406195"	"00404957"	"1"	"00000"	"03840"	"2022-03-11 11:49:24"	""	""	"SEQ"	"DNA"	""	""
"0000406196"	"00404958"	"1"	"00000"	"03840"	"2022-03-11 11:49:24"	""	""	"SEQ"	"DNA"	""	""
"0000406197"	"00404959"	"1"	"00000"	"03840"	"2022-03-11 11:49:24"	""	""	"SEQ"	"DNA"	""	""
"0000406198"	"00404960"	"1"	"00000"	"03840"	"2022-03-11 11:49:24"	""	""	"SEQ"	"DNA"	""	""
"0000406199"	"00404961"	"1"	"00000"	"03840"	"2022-03-11 11:49:24"	""	""	"SEQ"	"DNA"	""	""
"0000406200"	"00404962"	"1"	"00000"	"03840"	"2022-03-11 11:49:24"	""	""	"SEQ"	"DNA"	""	""
"0000406201"	"00404963"	"1"	"00000"	"03840"	"2022-03-11 11:49:24"	""	""	"SEQ"	"DNA"	""	""
"0000406202"	"00404964"	"1"	"00000"	"03840"	"2022-03-11 11:49:24"	""	""	"SEQ"	"DNA"	""	""
"0000406203"	"00404965"	"1"	"00000"	"03840"	"2022-03-11 11:49:24"	""	""	"SEQ"	"DNA"	""	""
"0000406204"	"00404966"	"1"	"00000"	"03840"	"2022-03-11 11:49:24"	""	""	"SEQ"	"DNA"	""	""
"0000406205"	"00404967"	"1"	"00000"	"03840"	"2022-03-11 11:49:24"	""	""	"SEQ"	"DNA"	""	""
"0000406228"	"00404990"	"1"	"00000"	"03840"	"2022-03-11 20:07:30"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406229"	"00404991"	"1"	"00000"	"03840"	"2022-03-11 20:07:30"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406230"	"00404992"	"1"	"00000"	"03840"	"2022-03-11 20:07:30"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406231"	"00404993"	"1"	"00000"	"03840"	"2022-03-11 20:07:30"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406232"	"00404994"	"1"	"00000"	"03840"	"2022-03-11 20:07:30"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406233"	"00404995"	"1"	"00000"	"03840"	"2022-03-11 20:31:03"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406236"	"00404998"	"1"	"00000"	"03840"	"2022-03-12 09:55:39"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406237"	"00404999"	"1"	"00000"	"03840"	"2022-03-12 19:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000406238"	"00405000"	"1"	"00000"	"03840"	"2022-03-12 19:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000406239"	"00405001"	"1"	"00000"	"03840"	"2022-03-12 19:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000406240"	"00405002"	"1"	"00000"	"03840"	"2022-03-12 19:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000406241"	"00405003"	"1"	"00000"	"03840"	"2022-03-12 19:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000406242"	"00405004"	"1"	"00000"	"03840"	"2022-03-12 19:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000406243"	"00405005"	"1"	"00000"	"03840"	"2022-03-12 19:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000406244"	"00405006"	"1"	"00000"	"03840"	"2022-03-12 19:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000406248"	"00405010"	"1"	"00000"	"03840"	"2022-03-13 13:58:32"	""	""	"SEQ"	"DNA"	""	""
"0000406249"	"00405011"	"1"	"00000"	"03840"	"2022-03-13 13:58:32"	""	""	"SEQ"	"DNA"	""	""
"0000406250"	"00405012"	"1"	"00000"	"03840"	"2022-03-13 13:58:32"	""	""	"SEQ"	"DNA"	""	""
"0000406251"	"00405013"	"1"	"00000"	"03840"	"2022-03-13 13:58:32"	""	""	"SEQ"	"DNA"	""	""
"0000406252"	"00405014"	"1"	"00000"	"03840"	"2022-03-13 13:58:32"	""	""	"SEQ"	"DNA"	""	""
"0000406253"	"00405015"	"1"	"00000"	"03840"	"2022-03-13 13:58:32"	""	""	"SEQ"	"DNA"	""	""
"0000406254"	"00405016"	"1"	"00000"	"03840"	"2022-03-13 13:58:32"	""	""	"SEQ"	"DNA"	""	""
"0000406255"	"00405017"	"1"	"00000"	"03840"	"2022-03-13 13:58:32"	""	""	"SEQ"	"DNA"	""	""
"0000406256"	"00405018"	"1"	"00000"	"03840"	"2022-03-13 13:58:32"	""	""	"SEQ"	"DNA"	""	""
"0000406257"	"00405019"	"1"	"00000"	"03840"	"2022-03-13 13:58:32"	""	""	"SEQ"	"DNA"	""	""
"0000406258"	"00405020"	"1"	"00000"	"03840"	"2022-03-13 13:58:32"	""	""	"SEQ"	"DNA"	""	""
"0000406259"	"00405021"	"1"	"00000"	"03840"	"2022-03-13 13:58:32"	""	""	"SEQ"	"DNA"	""	""
"0000406260"	"00405022"	"1"	"00000"	"03840"	"2022-03-13 13:58:32"	""	""	"SEQ"	"DNA"	""	""
"0000406261"	"00405023"	"1"	"00000"	"03840"	"2022-03-13 13:58:32"	""	""	"SEQ"	"DNA"	""	""
"0000406262"	"00405024"	"1"	"00000"	"03840"	"2022-03-13 13:58:32"	""	""	"SEQ"	"DNA"	""	""
"0000406263"	"00405025"	"1"	"00000"	"03840"	"2022-03-13 15:18:27"	""	""	"SEQ"	"DNA"	""	""
"0000406264"	"00405026"	"1"	"00000"	"03840"	"2022-03-13 15:18:27"	""	""	"SEQ"	"DNA"	""	""
"0000406265"	"00405027"	"1"	"00000"	"03840"	"2022-03-13 15:18:27"	""	""	"SEQ"	"DNA"	""	""
"0000406266"	"00405028"	"1"	"00000"	"03840"	"2022-03-13 15:18:27"	""	""	"SEQ"	"DNA"	""	""
"0000406267"	"00405029"	"1"	"00000"	"03840"	"2022-03-13 15:18:27"	""	""	"SEQ"	"DNA"	""	""
"0000406268"	"00405030"	"1"	"00000"	"03840"	"2022-03-13 15:18:27"	""	""	"SEQ"	"DNA"	""	""
"0000406269"	"00405031"	"1"	"00000"	"03840"	"2022-03-13 19:28:31"	""	""	"SEQ"	"DNA"	""	""
"0000406270"	"00405032"	"1"	"00000"	"03840"	"2022-03-13 19:28:31"	""	""	"SEQ"	"DNA"	""	""
"0000406271"	"00405033"	"1"	"00000"	"03840"	"2022-03-13 19:28:31"	""	""	"SEQ"	"DNA"	""	""
"0000406272"	"00405034"	"1"	"00000"	"03840"	"2022-03-13 19:28:31"	""	""	"SEQ"	"DNA"	""	""
"0000406278"	"00405038"	"1"	"00000"	"03840"	"2022-03-15 11:38:14"	""	""	"SEQ"	"DNA"	""	""
"0000406279"	"00405039"	"1"	"00000"	"03840"	"2022-03-15 11:38:14"	""	""	"SEQ"	"DNA"	""	""
"0000406280"	"00405040"	"1"	"00000"	"03840"	"2022-03-15 11:38:14"	""	""	"SEQ"	"DNA"	""	""
"0000406281"	"00405041"	"1"	"00000"	"03840"	"2022-03-15 11:38:14"	""	""	"SEQ"	"DNA"	""	""
"0000406282"	"00405042"	"1"	"00000"	"03840"	"2022-03-15 11:38:14"	""	""	"SEQ"	"DNA"	""	""
"0000406283"	"00405043"	"1"	"00000"	"03840"	"2022-03-15 11:38:14"	""	""	"SEQ"	"DNA"	""	""
"0000406284"	"00405044"	"1"	"00000"	"03840"	"2022-03-15 11:38:14"	""	""	"SEQ"	"DNA"	""	""
"0000406285"	"00405045"	"1"	"00000"	"03840"	"2022-03-15 11:38:14"	""	""	"SEQ"	"DNA"	""	""
"0000406286"	"00405046"	"1"	"00000"	"03840"	"2022-03-15 11:38:14"	""	""	"SEQ"	"DNA"	""	""
"0000406287"	"00405047"	"1"	"00000"	"03840"	"2022-03-15 11:38:14"	""	""	"SEQ"	"DNA"	""	""
"0000406288"	"00405048"	"1"	"00000"	"03840"	"2022-03-15 11:38:14"	""	""	"SEQ"	"DNA"	""	""
"0000406289"	"00405049"	"1"	"00000"	"03840"	"2022-03-15 11:38:14"	""	""	"SEQ"	"DNA"	""	""
"0000406290"	"00405050"	"1"	"00000"	"03840"	"2022-03-15 11:38:14"	""	""	"SEQ"	"DNA"	""	""
"0000406291"	"00405051"	"1"	"00000"	"03840"	"2022-03-15 11:38:14"	""	""	"SEQ"	"DNA"	""	""
"0000406292"	"00405052"	"1"	"00000"	"03840"	"2022-03-15 11:38:14"	""	""	"SEQ"	"DNA"	""	""
"0000406293"	"00405053"	"1"	"00000"	"03840"	"2022-03-15 11:38:14"	""	""	"SEQ"	"DNA"	""	""
"0000406294"	"00405054"	"1"	"00000"	"03840"	"2022-03-15 11:38:14"	""	""	"SEQ"	"DNA"	""	""
"0000406295"	"00405055"	"1"	"00000"	"03840"	"2022-03-15 11:38:14"	""	""	"SEQ"	"DNA"	""	""
"0000406296"	"00405056"	"1"	"00000"	"03840"	"2022-03-15 11:38:14"	""	""	"SEQ"	"DNA"	""	""
"0000406297"	"00405057"	"1"	"00000"	"03840"	"2022-03-15 11:38:14"	""	""	"SEQ"	"DNA"	""	""
"0000406298"	"00405058"	"1"	"00000"	"03840"	"2022-03-15 11:38:14"	""	""	"SEQ"	"DNA"	""	""
"0000406299"	"00405059"	"1"	"00000"	"03840"	"2022-03-15 11:38:14"	""	""	"SEQ"	"DNA"	""	""
"0000406300"	"00405060"	"1"	"00000"	"03840"	"2022-03-15 11:38:14"	""	""	"SEQ"	"DNA"	""	""
"0000406301"	"00405061"	"1"	"00000"	"03840"	"2022-03-15 11:38:14"	""	""	"SEQ"	"DNA"	""	""
"0000406302"	"00405062"	"1"	"00000"	"03840"	"2022-03-15 11:38:14"	""	""	"SEQ"	"DNA"	""	""
"0000406303"	"00405063"	"1"	"00000"	"03840"	"2022-03-15 11:38:14"	""	""	"SEQ"	"DNA"	""	""
"0000406304"	"00405064"	"1"	"00000"	"03840"	"2022-03-15 11:38:14"	""	""	"SEQ"	"DNA"	""	""
"0000406305"	"00405065"	"1"	"00000"	"03840"	"2022-03-15 11:38:14"	""	""	"SEQ"	"DNA"	""	""
"0000406306"	"00405066"	"1"	"00000"	"03840"	"2022-03-15 11:38:14"	""	""	"SEQ"	"DNA"	""	""
"0000406307"	"00405067"	"1"	"00000"	"03840"	"2022-03-15 11:38:14"	""	""	"SEQ"	"DNA"	""	""
"0000406308"	"00405068"	"1"	"00000"	"03840"	"2022-03-15 11:38:14"	""	""	"SEQ"	"DNA"	""	""
"0000406309"	"00405069"	"1"	"00000"	"03840"	"2022-03-15 11:38:14"	""	""	"SEQ"	"DNA"	""	""
"0000406310"	"00405070"	"1"	"00000"	"03840"	"2022-03-15 11:38:14"	""	""	"SEQ"	"DNA"	""	""
"0000406311"	"00405071"	"1"	"00000"	"03840"	"2022-03-15 11:38:14"	""	""	"SEQ"	"DNA"	""	""
"0000406312"	"00405072"	"1"	"00000"	"03840"	"2022-03-15 11:38:14"	""	""	"SEQ"	"DNA"	""	""
"0000406313"	"00405073"	"1"	"00000"	"03840"	"2022-03-15 11:38:14"	""	""	"SEQ"	"DNA"	""	""
"0000406314"	"00405074"	"1"	"00000"	"03840"	"2022-03-15 13:52:35"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406315"	"00405075"	"1"	"00000"	"03840"	"2022-03-15 14:03:16"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406316"	"00405076"	"1"	"00000"	"03840"	"2022-03-15 14:17:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406317"	"00405077"	"1"	"00000"	"03840"	"2022-03-15 15:14:25"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406318"	"00405078"	"1"	"00000"	"03840"	"2022-03-15 15:14:25"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406319"	"00405079"	"1"	"00000"	"03840"	"2022-03-15 15:14:25"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406320"	"00405080"	"1"	"00000"	"03840"	"2022-03-15 15:14:25"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406321"	"00405081"	"1"	"00000"	"03840"	"2022-03-15 15:14:25"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406324"	"00405084"	"1"	"00000"	"03840"	"2022-03-15 17:34:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406325"	"00405085"	"1"	"00000"	"03840"	"2022-03-15 17:34:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406327"	"00405087"	"1"	"00000"	"03840"	"2022-03-15 20:14:03"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel of 131 retinal dystrophy genes"
"0000406329"	"00405088"	"1"	"00000"	"03840"	"2022-03-15 20:32:35"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406342"	"00405100"	"1"	"00000"	"03840"	"2022-03-16 09:35:20"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406343"	"00405101"	"1"	"00000"	"03840"	"2022-03-16 09:35:20"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406344"	"00405102"	"1"	"00000"	"03840"	"2022-03-16 09:35:20"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406345"	"00405103"	"1"	"00000"	"03840"	"2022-03-16 09:35:20"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406346"	"00405104"	"1"	"00000"	"03840"	"2022-03-16 09:35:20"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406347"	"00405105"	"1"	"00000"	"03840"	"2022-03-16 09:35:20"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406348"	"00405106"	"1"	"00000"	"03840"	"2022-03-16 09:35:20"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406349"	"00405107"	"1"	"00000"	"03840"	"2022-03-16 09:35:20"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406350"	"00405108"	"1"	"00000"	"03840"	"2022-03-16 09:35:20"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406351"	"00405109"	"1"	"00000"	"03840"	"2022-03-16 09:35:20"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406352"	"00405110"	"1"	"00000"	"03840"	"2022-03-16 09:35:20"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406353"	"00405111"	"1"	"00000"	"03840"	"2022-03-16 09:35:20"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406354"	"00405112"	"1"	"00000"	"03840"	"2022-03-16 09:35:20"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406355"	"00405113"	"1"	"00000"	"03840"	"2022-03-16 09:35:20"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406356"	"00405114"	"1"	"00000"	"03840"	"2022-03-16 09:35:20"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406357"	"00405115"	"1"	"00000"	"03840"	"2022-03-16 09:35:20"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406358"	"00405116"	"1"	"00000"	"03840"	"2022-03-16 10:19:14"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406359"	"00405117"	"1"	"00000"	"03840"	"2022-03-16 10:19:14"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406418"	"00405176"	"1"	"00000"	"03840"	"2022-03-16 11:57:40"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406419"	"00405177"	"1"	"00000"	"03840"	"2022-03-16 11:57:40"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406420"	"00405178"	"1"	"00000"	"03840"	"2022-03-16 11:57:40"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406421"	"00405179"	"1"	"00000"	"03840"	"2022-03-16 11:57:40"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406422"	"00405180"	"1"	"00000"	"03840"	"2022-03-16 11:57:40"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406423"	"00405181"	"1"	"00000"	"03840"	"2022-03-16 11:57:40"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406424"	"00405182"	"1"	"00000"	"03840"	"2022-03-16 11:57:40"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406425"	"00405183"	"1"	"00000"	"03840"	"2022-03-16 11:57:40"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406426"	"00405184"	"1"	"00000"	"03840"	"2022-03-16 11:57:40"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406427"	"00405185"	"1"	"00000"	"03840"	"2022-03-16 11:57:40"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406428"	"00405186"	"1"	"00000"	"03840"	"2022-03-16 13:09:34"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"Whole-exome sequencing"
"0000406514"	"00405272"	"1"	"00000"	"03840"	"2022-03-16 14:06:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406515"	"00405273"	"1"	"00000"	"03840"	"2022-03-16 14:06:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406516"	"00405274"	"1"	"00000"	"03840"	"2022-03-16 14:06:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406517"	"00405275"	"1"	"00000"	"03840"	"2022-03-16 14:06:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406518"	"00405276"	"1"	"00000"	"03840"	"2022-03-16 14:06:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406519"	"00405277"	"1"	"00000"	"03840"	"2022-03-16 14:06:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406520"	"00405278"	"1"	"00000"	"03840"	"2022-03-16 14:06:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406521"	"00405279"	"1"	"00000"	"03840"	"2022-03-16 14:06:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406522"	"00405280"	"1"	"00000"	"03840"	"2022-03-16 14:06:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406523"	"00405281"	"1"	"00000"	"03840"	"2022-03-16 14:06:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406524"	"00405282"	"1"	"00000"	"03840"	"2022-03-16 14:06:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406525"	"00405283"	"1"	"00000"	"03840"	"2022-03-16 14:06:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406526"	"00405284"	"1"	"00000"	"03840"	"2022-03-16 14:28:37"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406527"	"00405285"	"1"	"00000"	"03840"	"2022-03-16 16:35:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406528"	"00405286"	"1"	"00000"	"03840"	"2022-03-16 16:35:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406529"	"00405287"	"1"	"00000"	"03840"	"2022-03-16 16:35:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406530"	"00405288"	"1"	"00000"	"03840"	"2022-03-16 16:35:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406531"	"00405289"	"1"	"00000"	"03840"	"2022-03-16 16:35:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406532"	"00405290"	"1"	"00000"	"03840"	"2022-03-16 16:35:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406533"	"00405291"	"1"	"00000"	"03840"	"2022-03-16 16:35:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406534"	"00405292"	"1"	"00000"	"03840"	"2022-03-16 16:35:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406535"	"00405293"	"1"	"00000"	"03840"	"2022-03-16 16:35:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406536"	"00405294"	"1"	"00000"	"03840"	"2022-03-16 16:35:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406537"	"00405295"	"1"	"00000"	"03840"	"2022-03-16 16:35:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406538"	"00405296"	"1"	"00000"	"03840"	"2022-03-16 16:35:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406539"	"00405297"	"1"	"00000"	"03840"	"2022-03-16 16:35:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406540"	"00405298"	"1"	"00000"	"03840"	"2022-03-16 16:35:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406541"	"00405299"	"1"	"00000"	"03840"	"2022-03-16 16:35:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406542"	"00405300"	"1"	"00000"	"03840"	"2022-03-16 16:35:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406543"	"00405301"	"1"	"00000"	"03840"	"2022-03-16 16:35:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406544"	"00405302"	"1"	"00000"	"03840"	"2022-03-16 16:35:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406545"	"00405303"	"1"	"00000"	"03840"	"2022-03-16 16:35:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406546"	"00000220"	"1"	"00000"	"03840"	"2022-03-16 16:35:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406547"	"00000221"	"1"	"00000"	"03840"	"2022-03-16 16:35:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406548"	"00405306"	"1"	"00000"	"03840"	"2022-03-16 19:39:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406549"	"00405307"	"1"	"00000"	"03840"	"2022-03-16 19:39:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406550"	"00405308"	"1"	"00000"	"03840"	"2022-03-16 19:39:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406551"	"00405309"	"1"	"00000"	"03840"	"2022-03-16 19:39:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406552"	"00405310"	"1"	"00000"	"03840"	"2022-03-16 19:39:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406553"	"00405311"	"1"	"00000"	"03840"	"2022-03-16 19:39:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406554"	"00405312"	"1"	"00000"	"03840"	"2022-03-16 19:39:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406555"	"00405313"	"1"	"00000"	"03840"	"2022-03-16 19:39:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406556"	"00405314"	"1"	"00000"	"03840"	"2022-03-16 19:39:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406557"	"00405315"	"1"	"00000"	"03840"	"2022-03-16 19:39:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406558"	"00405316"	"1"	"00000"	"03840"	"2022-03-16 19:39:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406559"	"00405317"	"1"	"00000"	"03840"	"2022-03-16 19:39:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406560"	"00405318"	"1"	"00000"	"03840"	"2022-03-16 19:39:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406561"	"00405319"	"1"	"00000"	"03840"	"2022-03-16 20:21:10"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000406562"	"00405320"	"1"	"00000"	"03840"	"2022-03-16 20:21:10"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000406563"	"00405321"	"1"	"00000"	"03840"	"2022-03-16 20:21:10"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000406564"	"00405322"	"1"	"00000"	"03840"	"2022-03-16 20:21:10"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000406565"	"00405323"	"1"	"00000"	"03840"	"2022-03-16 20:21:10"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000406566"	"00405325"	"1"	"00000"	"03840"	"2022-03-17 09:47:10"	""	""	"?"	"DNA"	""	""
"0000406567"	"00405326"	"1"	"00000"	"03840"	"2022-03-17 09:47:10"	""	""	"?"	"DNA"	""	""
"0000406568"	"00405327"	"1"	"00000"	"03840"	"2022-03-17 09:47:10"	""	""	"?"	"DNA"	""	""
"0000406569"	"00405328"	"1"	"00000"	"03840"	"2022-03-17 09:47:10"	""	""	"?"	"DNA"	""	""
"0000406570"	"00405329"	"1"	"00000"	"03840"	"2022-03-17 09:47:10"	""	""	"?"	"DNA"	""	""
"0000406571"	"00405330"	"1"	"00000"	"03840"	"2022-03-17 09:47:10"	""	""	"?"	"DNA"	""	""
"0000406572"	"00405331"	"1"	"00000"	"03840"	"2022-03-17 09:47:10"	""	""	"SEQ"	"DNA"	""	""
"0000406573"	"00405332"	"1"	"00000"	"03840"	"2022-03-17 10:57:25"	""	""	"SEQ"	"DNA"	""	""
"0000406574"	"00405334"	"1"	"00000"	"03840"	"2022-03-17 11:34:08"	""	""	"SEQ"	"DNA"	""	""
"0000406575"	"00405335"	"1"	"00000"	"03840"	"2022-03-17 11:34:08"	""	""	"SEQ"	"DNA"	""	""
"0000406576"	"00405336"	"1"	"00000"	"03840"	"2022-03-17 11:34:08"	""	""	"SEQ"	"DNA"	""	""
"0000406577"	"00405337"	"1"	"00000"	"03840"	"2022-03-17 11:34:08"	""	""	"SEQ"	"DNA"	""	""
"0000406578"	"00405338"	"1"	"00000"	"03840"	"2022-03-17 11:34:08"	""	""	"SEQ"	"DNA"	""	""
"0000406579"	"00405339"	"1"	"00000"	"03840"	"2022-03-17 11:34:08"	""	""	"SEQ"	"DNA"	""	""
"0000406580"	"00405340"	"1"	"00000"	"03840"	"2022-03-17 12:49:28"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406581"	"00405341"	"1"	"00000"	"03840"	"2022-03-17 13:37:35"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406582"	"00405342"	"1"	"00000"	"03840"	"2022-03-17 13:37:35"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406583"	"00405343"	"1"	"00000"	"03840"	"2022-03-17 13:37:35"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406584"	"00405344"	"1"	"00000"	"03840"	"2022-03-17 13:37:35"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406585"	"00405345"	"1"	"00000"	"03840"	"2022-03-17 13:37:35"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406586"	"00405346"	"1"	"00000"	"03840"	"2022-03-17 13:37:35"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406587"	"00405347"	"1"	"00000"	"03840"	"2022-03-17 14:18:03"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406588"	"00405348"	"1"	"00000"	"03840"	"2022-03-17 14:18:03"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406589"	"00405349"	"1"	"00000"	"03840"	"2022-03-17 14:18:03"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406590"	"00405350"	"1"	"00000"	"03840"	"2022-03-17 14:18:03"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406591"	"00405351"	"1"	"00000"	"03840"	"2022-03-17 14:18:03"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406592"	"00405352"	"1"	"00000"	"03840"	"2022-03-17 14:18:03"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406593"	"00405353"	"1"	"00000"	"03840"	"2022-03-17 14:18:03"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406594"	"00405354"	"1"	"00000"	"03840"	"2022-03-17 14:18:03"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406595"	"00405355"	"1"	"00000"	"03840"	"2022-03-17 14:18:03"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406596"	"00405356"	"1"	"00000"	"03840"	"2022-03-17 14:18:03"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406597"	"00405357"	"1"	"00000"	"03840"	"2022-03-17 14:18:03"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406598"	"00405358"	"1"	"00000"	"03840"	"2022-03-17 14:18:03"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406599"	"00405359"	"1"	"00000"	"03840"	"2022-03-17 14:18:03"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406600"	"00405360"	"1"	"00000"	"03840"	"2022-03-17 14:18:03"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406601"	"00405361"	"1"	"00000"	"03840"	"2022-03-17 15:09:16"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406602"	"00405362"	"1"	"00000"	"03840"	"2022-03-17 15:09:16"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406603"	"00405363"	"1"	"00000"	"03840"	"2022-03-17 15:09:16"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406626"	"00405386"	"1"	"00000"	"03840"	"2022-03-17 20:32:33"	""	""	"SEQ"	"DNA"	"blood"	"retrospective study"
"0000406627"	"00405387"	"1"	"00000"	"03840"	"2022-03-17 20:32:33"	""	""	"SEQ"	"DNA"	"blood"	"retrospective study"
"0000406628"	"00405388"	"1"	"00000"	"03840"	"2022-03-17 20:32:33"	""	""	"SEQ"	"DNA"	"blood"	"retrospective study"
"0000406629"	"00405389"	"1"	"00000"	"03840"	"2022-03-17 20:32:33"	""	""	"SEQ"	"DNA"	"blood"	"retrospective study"
"0000406630"	"00405390"	"1"	"00000"	"03840"	"2022-03-17 20:32:33"	""	""	"SEQ"	"DNA"	"blood"	"retrospective study"
"0000406631"	"00405391"	"1"	"00000"	"03840"	"2022-03-17 20:32:33"	""	""	"SEQ"	"DNA"	"blood"	"retrospective study"
"0000406632"	"00405392"	"1"	"00000"	"03840"	"2022-03-17 20:32:33"	""	""	"SEQ"	"DNA"	"blood"	"retrospective study"
"0000406633"	"00405393"	"1"	"00000"	"03840"	"2022-03-17 20:32:33"	""	""	"SEQ"	"DNA"	"blood"	"retrospective study"
"0000406634"	"00405394"	"1"	"00000"	"03840"	"2022-03-17 20:32:33"	""	""	"SEQ"	"DNA"	"blood"	"retrospective study"
"0000406635"	"00405395"	"1"	"00000"	"03840"	"2022-03-17 20:32:33"	""	""	"SEQ"	"DNA"	"blood"	"retrospective study"
"0000406636"	"00405396"	"1"	"00000"	"03840"	"2022-03-17 20:32:33"	""	""	"SEQ"	"DNA"	"blood"	"retrospective study"
"0000406637"	"00405397"	"1"	"00000"	"03840"	"2022-03-17 20:32:33"	""	""	"SEQ"	"DNA"	"blood"	"retrospective study"
"0000406638"	"00405398"	"1"	"00000"	"03840"	"2022-03-17 20:32:33"	""	""	"SEQ"	"DNA"	"blood"	"retrospective study"
"0000406639"	"00405399"	"1"	"00000"	"03840"	"2022-03-17 20:32:33"	""	""	"SEQ"	"DNA"	"blood"	"retrospective study"
"0000406640"	"00405400"	"1"	"00000"	"03840"	"2022-03-17 20:32:33"	""	""	"SEQ"	"DNA"	"blood"	"retrospective study"
"0000406641"	"00405401"	"1"	"00000"	"03840"	"2022-03-17 20:32:33"	""	""	"SEQ"	"DNA"	"blood"	"retrospective study"
"0000406642"	"00405402"	"1"	"00000"	"03840"	"2022-03-17 20:32:33"	""	""	"SEQ"	"DNA"	"blood"	"retrospective study"
"0000406643"	"00405403"	"1"	"00000"	"03840"	"2022-03-17 20:32:33"	""	""	"SEQ"	"DNA"	"blood"	"retrospective study"
"0000406644"	"00405404"	"1"	"00000"	"03840"	"2022-03-17 20:32:33"	""	""	"SEQ"	"DNA"	"blood"	"retrospective study"
"0000406645"	"00405405"	"1"	"00000"	"03840"	"2022-03-17 20:32:33"	""	""	"SEQ"	"DNA"	"blood"	"retrospective study"
"0000406646"	"00405406"	"1"	"00000"	"03840"	"2022-03-17 20:32:33"	""	""	"SEQ"	"DNA"	"blood"	"retrospective study"
"0000406647"	"00405407"	"1"	"00000"	"03840"	"2022-03-17 20:32:33"	""	""	"SEQ"	"DNA"	"blood"	"retrospective study"
"0000406648"	"00405408"	"1"	"00000"	"03840"	"2022-03-17 20:32:33"	""	""	"SEQ"	"DNA"	"blood"	"retrospective study"
"0000406649"	"00405409"	"1"	"00000"	"03840"	"2022-03-17 20:32:33"	""	""	"SEQ"	"DNA"	"blood"	"retrospective study"
"0000406650"	"00405410"	"1"	"00000"	"03840"	"2022-03-17 20:32:33"	""	""	"SEQ"	"DNA"	"blood"	"retrospective study"
"0000406651"	"00405411"	"1"	"00000"	"03840"	"2022-03-17 20:32:33"	""	""	"SEQ"	"DNA"	"blood"	"retrospective study"
"0000406652"	"00405412"	"1"	"00000"	"03840"	"2022-03-17 20:32:33"	""	""	"SEQ"	"DNA"	"blood"	"retrospective study"
"0000406653"	"00405413"	"1"	"00000"	"03840"	"2022-03-17 20:32:33"	""	""	"SEQ"	"DNA"	"blood"	"retrospective study"
"0000406654"	"00405414"	"1"	"00000"	"03840"	"2022-03-17 20:32:33"	""	""	"SEQ"	"DNA"	"blood"	"retrospective study"
"0000406655"	"00405415"	"1"	"00000"	"03840"	"2022-03-17 20:32:33"	""	""	"SEQ"	"DNA"	"blood"	"retrospective study"
"0000406656"	"00405416"	"1"	"00000"	"03840"	"2022-03-17 20:32:33"	""	""	"SEQ"	"DNA"	"blood"	"retrospective study"
"0000406657"	"00405417"	"1"	"00000"	"03840"	"2022-03-17 20:32:33"	""	""	"SEQ"	"DNA"	"blood"	"retrospective study"
"0000406658"	"00405418"	"1"	"00000"	"03840"	"2022-03-17 20:32:33"	""	""	"SEQ"	"DNA"	"blood"	"retrospective study"
"0000406659"	"00405419"	"1"	"00000"	"03840"	"2022-03-17 20:32:33"	""	""	"SEQ"	"DNA"	"blood"	"retrospective study"
"0000406660"	"00405420"	"1"	"00000"	"03840"	"2022-03-17 20:32:33"	""	""	"SEQ"	"DNA"	"blood"	"retrospective study"
"0000406661"	"00405421"	"1"	"00000"	"03840"	"2022-03-17 20:32:33"	""	""	"SEQ"	"DNA"	"blood"	"retrospective study"
"0000406662"	"00405422"	"1"	"00000"	"03840"	"2022-03-17 20:32:33"	""	""	"SEQ"	"DNA"	"blood"	"retrospective study"
"0000406663"	"00405423"	"1"	"00000"	"03840"	"2022-03-17 20:32:33"	""	""	"SEQ"	"DNA"	"blood"	"retrospective study"
"0000406664"	"00405424"	"1"	"00000"	"03840"	"2022-03-17 20:32:33"	""	""	"SEQ"	"DNA"	"blood"	"retrospective study"
"0000406665"	"00405425"	"1"	"00000"	"03840"	"2022-03-17 20:32:33"	""	""	"SEQ"	"DNA"	"blood"	"retrospective study"
"0000406666"	"00405426"	"1"	"00000"	"03840"	"2022-03-17 20:32:33"	""	""	"SEQ"	"DNA"	"blood"	"retrospective study"
"0000406667"	"00405427"	"1"	"00000"	"03840"	"2022-03-17 20:32:33"	""	""	"SEQ"	"DNA"	"blood"	"retrospective study"
"0000406674"	"00405434"	"1"	"00000"	"03840"	"2022-03-17 21:30:47"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406703"	"00405463"	"1"	"00000"	"03840"	"2022-03-18 11:33:14"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000406704"	"00405464"	"1"	"00000"	"03840"	"2022-03-18 11:33:14"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000406705"	"00405465"	"1"	"00000"	"03840"	"2022-03-18 11:33:14"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000406706"	"00405466"	"1"	"00000"	"03840"	"2022-03-18 12:25:32"	""	""	"SEQ"	"DNA"	""	""
"0000406707"	"00405467"	"1"	"00000"	"03840"	"2022-03-18 12:25:32"	""	""	"SEQ"	"DNA"	""	""
"0000406708"	"00405468"	"1"	"00000"	"03840"	"2022-03-18 12:25:32"	""	""	"SEQ"	"DNA"	""	""
"0000406709"	"00405469"	"1"	"00000"	"03840"	"2022-03-18 12:25:32"	""	""	"SEQ"	"DNA"	""	""
"0000406710"	"00405470"	"1"	"00000"	"03840"	"2022-03-18 12:25:32"	""	""	"SEQ"	"DNA"	""	""
"0000406711"	"00405471"	"1"	"00000"	"03840"	"2022-03-18 12:25:32"	""	""	"SEQ"	"DNA"	""	""
"0000406712"	"00405472"	"1"	"00000"	"03840"	"2022-03-18 12:25:32"	""	""	"SEQ"	"DNA"	""	""
"0000406713"	"00405473"	"1"	"00000"	"03840"	"2022-03-18 12:25:32"	""	""	"SEQ"	"DNA"	""	""
"0000406714"	"00405474"	"1"	"00000"	"03840"	"2022-03-18 12:25:32"	""	""	"SEQ"	"DNA"	""	""
"0000406715"	"00405475"	"1"	"00000"	"03840"	"2022-03-18 13:09:31"	""	""	"SEQ"	"DNA"	""	"retrospective study"
"0000406716"	"00405476"	"1"	"00000"	"03840"	"2022-03-18 13:09:31"	""	""	"SEQ"	"DNA"	""	"retrospective study"
"0000406717"	"00405477"	"1"	"00000"	"03840"	"2022-03-18 13:09:31"	""	""	"SEQ"	"DNA"	""	"retrospective study"
"0000406718"	"00405478"	"1"	"00000"	"03840"	"2022-03-18 13:09:31"	""	""	"SEQ"	"DNA"	""	"retrospective study"
"0000406719"	"00405479"	"1"	"00000"	"03840"	"2022-03-18 13:09:31"	""	""	"SEQ"	"DNA"	""	"retrospective study"
"0000406720"	"00405480"	"1"	"00000"	"03840"	"2022-03-18 13:09:31"	""	""	"SEQ"	"DNA"	""	"retrospective study"
"0000406721"	"00405481"	"1"	"00000"	"03840"	"2022-03-18 13:09:31"	""	""	"SEQ"	"DNA"	""	"retrospective study"
"0000406722"	"00405482"	"1"	"00000"	"03840"	"2022-03-18 13:09:31"	""	""	"SEQ"	"DNA"	""	"retrospective study"
"0000406723"	"00405483"	"1"	"00000"	"03840"	"2022-03-18 13:09:31"	""	""	"SEQ"	"DNA"	""	"retrospective study"
"0000406724"	"00405484"	"1"	"00000"	"03840"	"2022-03-18 13:09:31"	""	""	"SEQ"	"DNA"	""	"retrospective study"
"0000406725"	"00405485"	"1"	"00000"	"03840"	"2022-03-18 13:09:31"	""	""	"SEQ"	"DNA"	""	"retrospective study"
"0000406726"	"00405486"	"1"	"00000"	"03840"	"2022-03-18 13:33:25"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406727"	"00405487"	"1"	"00000"	"03840"	"2022-03-18 13:33:25"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406728"	"00405488"	"1"	"00000"	"03840"	"2022-03-18 13:33:25"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406737"	"00405497"	"1"	"00000"	"03840"	"2022-03-18 14:24:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406738"	"00405498"	"1"	"00000"	"03840"	"2022-03-18 14:24:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406739"	"00405499"	"1"	"00000"	"03840"	"2022-03-18 14:24:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406740"	"00405500"	"1"	"00000"	"03840"	"2022-03-18 14:24:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406741"	"00405501"	"1"	"00000"	"03840"	"2022-03-18 14:24:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406742"	"00405502"	"1"	"00000"	"03840"	"2022-03-18 14:24:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406743"	"00405503"	"1"	"00000"	"03840"	"2022-03-18 14:24:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406744"	"00405504"	"1"	"00000"	"03840"	"2022-03-18 14:24:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406745"	"00405505"	"1"	"00000"	"03840"	"2022-03-18 14:24:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406746"	"00405506"	"1"	"00000"	"03840"	"2022-03-18 14:24:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406747"	"00405507"	"1"	"00000"	"03840"	"2022-03-18 14:24:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406748"	"00405508"	"1"	"00000"	"03840"	"2022-03-18 14:24:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406749"	"00405509"	"1"	"00000"	"03840"	"2022-03-18 14:24:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406750"	"00405510"	"1"	"00000"	"03840"	"2022-03-18 14:24:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406751"	"00405511"	"1"	"00000"	"03840"	"2022-03-18 14:24:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406752"	"00405512"	"1"	"00000"	"03840"	"2022-03-18 14:36:07"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	"custom NGS panel (TruSeq Custom Amplicon)"
"0000406767"	"00405527"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406768"	"00405528"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406769"	"00405529"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406770"	"00405530"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406771"	"00405531"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406772"	"00405532"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406773"	"00405533"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406774"	"00405534"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406775"	"00405535"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406776"	"00405536"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406777"	"00405537"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406778"	"00405538"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406779"	"00405539"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406780"	"00405540"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406781"	"00405541"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406782"	"00405542"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406783"	"00405543"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406784"	"00405544"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406785"	"00405545"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406786"	"00405546"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406787"	"00405547"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406788"	"00405548"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406789"	"00405549"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406790"	"00405550"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406791"	"00405551"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406792"	"00405552"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406793"	"00405553"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406794"	"00405554"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406795"	"00405555"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406796"	"00405556"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406797"	"00405557"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406798"	"00405558"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406799"	"00405559"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406800"	"00405560"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406801"	"00405561"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406802"	"00405562"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406803"	"00405563"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406804"	"00405564"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406805"	"00405565"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406806"	"00405566"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406807"	"00405567"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406808"	"00405568"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406809"	"00405569"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406810"	"00405570"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406811"	"00405571"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406812"	"00405572"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406813"	"00405573"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406814"	"00405574"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406815"	"00405575"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406816"	"00405576"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406817"	"00405577"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406818"	"00405578"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406819"	"00405579"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406820"	"00405580"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406821"	"00405581"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406822"	"00405582"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406823"	"00405583"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406824"	"00405584"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406825"	"00405585"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406826"	"00405586"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406827"	"00405587"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406828"	"00405588"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406829"	"00405589"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406830"	"00405590"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406831"	"00405591"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406832"	"00405592"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406833"	"00405593"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406834"	"00405594"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406835"	"00405595"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406836"	"00405596"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406837"	"00405597"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406838"	"00405598"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406839"	"00405599"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406840"	"00405600"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406841"	"00405601"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406842"	"00405602"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406843"	"00405603"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406844"	"00405604"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406845"	"00405605"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406846"	"00405606"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406847"	"00405607"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406848"	"00405608"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406849"	"00405609"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406850"	"00405610"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406851"	"00405611"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406852"	"00405612"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406853"	"00405613"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406854"	"00405614"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406855"	"00405615"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406856"	"00405616"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406857"	"00405617"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406858"	"00405618"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406859"	"00405619"	"1"	"00000"	"03840"	"2022-03-19 20:33:50"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406914"	"00405674"	"1"	"00000"	"03840"	"2022-03-20 21:29:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406915"	"00405675"	"1"	"00000"	"03840"	"2022-03-20 21:29:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406916"	"00405676"	"1"	"00000"	"03840"	"2022-03-20 21:29:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406917"	"00405677"	"1"	"00000"	"03840"	"2022-03-20 21:29:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406918"	"00405678"	"1"	"00000"	"03840"	"2022-03-20 21:29:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406919"	"00405679"	"1"	"00000"	"03840"	"2022-03-20 21:29:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406920"	"00405680"	"1"	"00000"	"03840"	"2022-03-20 21:29:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406921"	"00405681"	"1"	"00000"	"03840"	"2022-03-20 21:29:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406922"	"00405682"	"1"	"00000"	"03840"	"2022-03-20 21:29:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406923"	"00405683"	"1"	"00000"	"03840"	"2022-03-20 21:29:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406924"	"00405684"	"1"	"00000"	"03840"	"2022-03-20 21:29:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406925"	"00405685"	"1"	"00000"	"03840"	"2022-03-20 21:29:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406926"	"00405686"	"1"	"00000"	"03840"	"2022-03-20 21:29:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406927"	"00405687"	"1"	"00000"	"03840"	"2022-03-20 21:29:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406928"	"00405688"	"1"	"00000"	"03840"	"2022-03-20 21:29:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406929"	"00405689"	"1"	"00000"	"03840"	"2022-03-20 21:29:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406930"	"00405690"	"1"	"00000"	"03840"	"2022-03-20 21:29:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406931"	"00405691"	"1"	"00000"	"03840"	"2022-03-20 21:29:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406932"	"00405692"	"1"	"00000"	"03840"	"2022-03-20 21:29:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406933"	"00405693"	"1"	"00000"	"03840"	"2022-03-20 21:29:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406934"	"00405694"	"1"	"00000"	"03840"	"2022-03-20 21:29:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406935"	"00405695"	"1"	"00000"	"03840"	"2022-03-20 21:29:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406936"	"00405696"	"1"	"00000"	"03840"	"2022-03-20 21:29:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406937"	"00405697"	"1"	"00000"	"03840"	"2022-03-20 21:29:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406938"	"00405698"	"1"	"00000"	"03840"	"2022-03-20 21:29:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406939"	"00405699"	"1"	"00000"	"03840"	"2022-03-20 21:29:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406940"	"00405700"	"1"	"00000"	"03840"	"2022-03-20 21:29:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406941"	"00405701"	"1"	"00000"	"03840"	"2022-03-20 21:29:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406942"	"00405702"	"1"	"00000"	"03840"	"2022-03-20 21:29:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406943"	"00405703"	"1"	"00000"	"03840"	"2022-03-20 21:29:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406944"	"00405704"	"1"	"00000"	"03840"	"2022-03-20 21:29:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406945"	"00405705"	"1"	"00000"	"03840"	"2022-03-20 21:29:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406946"	"00405706"	"1"	"00000"	"03840"	"2022-03-20 21:29:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406947"	"00405707"	"1"	"00000"	"03840"	"2022-03-20 21:29:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406948"	"00405708"	"1"	"00000"	"03840"	"2022-03-20 21:29:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406949"	"00405709"	"1"	"00000"	"03840"	"2022-03-20 21:29:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406958"	"00405718"	"1"	"00000"	"03840"	"2022-03-21 11:26:34"	""	""	"?"	"DNA"	""	""
"0000406970"	"00405730"	"1"	"00000"	"03840"	"2022-03-21 14:10:39"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000406971"	"00405731"	"1"	"00000"	"03840"	"2022-03-21 14:26:30"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406972"	"00405732"	"1"	"00000"	"03840"	"2022-03-21 14:26:30"	""	""	"SEQ"	"DNA"	"blood"	""
"0000406981"	"00405741"	"1"	"00000"	"03840"	"2022-03-21 18:30:03"	""	""	"SEQ"	"DNA"	"blood"	"Whole Exome Sequencing"
"0000406982"	"00405742"	"1"	"00000"	"03840"	"2022-03-21 18:30:03"	""	""	"SEQ"	"DNA"	"blood"	"Whole Exome Sequencing"
"0000406983"	"00405743"	"1"	"00000"	"03840"	"2022-03-21 18:30:03"	""	""	"SEQ"	"DNA"	"blood"	"Whole Exome Sequencing"
"0000406984"	"00405744"	"1"	"00000"	"03840"	"2022-03-21 18:30:03"	""	""	"SEQ"	"DNA"	"blood"	"Whole Exome Sequencing"
"0000406985"	"00405745"	"1"	"00000"	"03840"	"2022-03-21 18:30:03"	""	""	"SEQ"	"DNA"	"blood"	"Whole Exome Sequencing"
"0000406986"	"00405746"	"1"	"00000"	"03840"	"2022-03-21 18:30:03"	""	""	"SEQ"	"DNA"	"blood"	"Whole Exome Sequencing"
"0000406987"	"00405747"	"1"	"00000"	"03840"	"2022-03-21 18:30:03"	""	""	"SEQ"	"DNA"	"blood"	"Whole Exome Sequencing"
"0000406988"	"00405748"	"1"	"00000"	"03840"	"2022-03-21 18:30:03"	""	""	"SEQ"	"DNA"	"blood"	"Whole Exome Sequencing"
"0000406989"	"00405749"	"1"	"00000"	"03840"	"2022-03-21 18:30:03"	""	""	"SEQ"	"DNA"	"blood"	"Whole Exome Sequencing"
"0000406990"	"00405750"	"1"	"00000"	"03840"	"2022-03-21 18:30:03"	""	""	"SEQ"	"DNA"	"blood"	"Whole Exome Sequencing"
"0000406991"	"00405751"	"1"	"00000"	"03840"	"2022-03-21 18:30:03"	""	""	"SEQ"	"DNA"	"blood"	"Whole Exome Sequencing"
"0000406992"	"00405752"	"1"	"00000"	"03840"	"2022-03-21 18:30:03"	""	""	"SEQ"	"DNA"	"blood"	"Whole Exome Sequencing"
"0000407020"	"00405780"	"1"	"00000"	"03840"	"2022-03-22 10:42:26"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407021"	"00405781"	"1"	"00000"	"03840"	"2022-03-22 10:42:26"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407025"	"00405785"	"1"	"00000"	"03840"	"2022-03-22 14:27:19"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407026"	"00405786"	"1"	"00000"	"03840"	"2022-03-22 14:27:19"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407027"	"00405787"	"1"	"00000"	"03840"	"2022-03-22 14:27:19"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407028"	"00405788"	"1"	"00000"	"03840"	"2022-03-22 14:27:19"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407029"	"00405789"	"1"	"00000"	"03840"	"2022-03-22 14:27:19"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407030"	"00405790"	"1"	"00000"	"03840"	"2022-03-22 14:27:19"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407031"	"00405791"	"1"	"00000"	"03840"	"2022-03-22 14:27:19"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407032"	"00405792"	"1"	"00000"	"03840"	"2022-03-22 14:27:19"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407033"	"00405793"	"1"	"00000"	"03840"	"2022-03-22 14:27:19"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407034"	"00405794"	"1"	"00000"	"03840"	"2022-03-22 14:27:19"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407035"	"00405795"	"1"	"00000"	"03840"	"2022-03-22 14:27:19"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407036"	"00405796"	"1"	"00000"	"03840"	"2022-03-22 14:27:19"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407037"	"00405797"	"1"	"00000"	"03840"	"2022-03-22 14:27:19"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407038"	"00405798"	"1"	"00000"	"03840"	"2022-03-22 14:27:19"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407039"	"00405799"	"1"	"00000"	"03840"	"2022-03-22 14:27:19"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407040"	"00405800"	"1"	"00000"	"03840"	"2022-03-22 14:27:19"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407041"	"00405801"	"1"	"00000"	"03840"	"2022-03-22 14:27:19"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407042"	"00405802"	"1"	"00000"	"03840"	"2022-03-22 14:27:19"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407049"	"00405808"	"1"	"00000"	"03840"	"2022-03-22 17:40:37"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000407050"	"00405809"	"1"	"00000"	"03840"	"2022-03-22 17:40:37"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000407147"	"00405906"	"1"	"00000"	"03840"	"2022-03-23 09:52:46"	""	""	"SEQ-NG"	"DNA"	""	""
"0000407150"	"00405909"	"1"	"00000"	"03840"	"2022-03-23 12:52:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407154"	"00405913"	"1"	"00000"	"03840"	"2022-03-23 14:08:29"	""	""	"SEQ-NG"	"DNA"	"blood"	"326 retinal degeneration-associated genes"
"0000407155"	"00405914"	"1"	"00000"	"03840"	"2022-03-23 14:08:29"	""	""	"SEQ-NG"	"DNA"	"blood"	"325 retinal degeneration-associated genes"
"0000407156"	"00405915"	"1"	"00000"	"03840"	"2022-03-23 14:08:29"	""	""	"SEQ-NG"	"DNA"	"blood"	"325 retinal degeneration-associated genes"
"0000407157"	"00405916"	"1"	"00000"	"03840"	"2022-03-23 14:08:29"	""	""	"SEQ-NG"	"DNA"	"blood"	"325 retinal degeneration-associated genes"
"0000407158"	"00405917"	"1"	"00000"	"03840"	"2022-03-23 14:08:29"	""	""	"SEQ-NG"	"DNA"	"blood"	"325 retinal degeneration-associated genes"
"0000407159"	"00405918"	"1"	"00000"	"03840"	"2022-03-23 14:08:29"	""	""	"SEQ-NG"	"DNA"	"blood"	"326 retinal degeneration-associated genes"
"0000407160"	"00405919"	"1"	"00000"	"03840"	"2022-03-23 14:08:29"	""	""	"SEQ-NG"	"DNA"	"blood"	"325 retinal degeneration-associated genes"
"0000407161"	"00405920"	"1"	"00000"	"03840"	"2022-03-23 14:08:29"	""	""	"SEQ-NG"	"DNA"	"blood"	"325 retinal degeneration-associated genes"
"0000407162"	"00405921"	"1"	"00000"	"03840"	"2022-03-23 14:08:29"	""	""	"SEQ-NG"	"DNA"	"blood"	"325 retinal degeneration-associated genes"
"0000407163"	"00405922"	"1"	"00000"	"03840"	"2022-03-23 14:08:29"	""	""	"SEQ-NG"	"DNA"	"blood"	"326 retinal degeneration-associated genes"
"0000407164"	"00405923"	"1"	"00000"	"03840"	"2022-03-23 15:05:28"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000407165"	"00405924"	"1"	"00000"	"03840"	"2022-03-23 15:05:28"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000407166"	"00405925"	"1"	"00000"	"03840"	"2022-03-23 15:05:28"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000407167"	"00405926"	"1"	"00000"	"03840"	"2022-03-23 15:05:28"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000407168"	"00405927"	"1"	"00000"	"03840"	"2022-03-23 15:05:28"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000407169"	"00405928"	"1"	"00000"	"03840"	"2022-03-23 15:05:28"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000407170"	"00405929"	"1"	"00000"	"03840"	"2022-03-23 15:05:28"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000407171"	"00405930"	"1"	"00000"	"03840"	"2022-03-23 15:05:28"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000407172"	"00405931"	"1"	"00000"	"03840"	"2022-03-23 15:05:28"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000407173"	"00405932"	"1"	"00000"	"03840"	"2022-03-23 15:05:28"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000407174"	"00405933"	"1"	"00000"	"03840"	"2022-03-23 15:05:28"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000407175"	"00405934"	"1"	"00000"	"03840"	"2022-03-23 15:05:28"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000407176"	"00405935"	"1"	"00000"	"03840"	"2022-03-23 15:05:28"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000407177"	"00405936"	"1"	"00000"	"03840"	"2022-03-23 15:05:28"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000407178"	"00405937"	"1"	"00000"	"03840"	"2022-03-23 15:05:28"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000407179"	"00405938"	"1"	"00000"	"03840"	"2022-03-23 15:05:28"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000407180"	"00405939"	"1"	"00000"	"03840"	"2022-03-23 15:05:28"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000407181"	"00405940"	"1"	"00000"	"03840"	"2022-03-23 15:05:28"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000407182"	"00405941"	"1"	"00000"	"03840"	"2022-03-23 15:05:28"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000407183"	"00405942"	"1"	"00000"	"03840"	"2022-03-23 15:05:28"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000407184"	"00405943"	"1"	"00000"	"03840"	"2022-03-23 15:05:28"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000407185"	"00405944"	"1"	"00000"	"03840"	"2022-03-23 15:05:28"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000407186"	"00405945"	"1"	"00000"	"03840"	"2022-03-23 15:05:28"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000407187"	"00405946"	"1"	"00000"	"03840"	"2022-03-23 15:05:28"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000407188"	"00405947"	"1"	"00000"	"03840"	"2022-03-23 15:05:28"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000407189"	"00405948"	"1"	"00000"	"03840"	"2022-03-23 15:05:28"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000407190"	"00405949"	"1"	"00000"	"03840"	"2022-03-23 15:05:28"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000407191"	"00405950"	"1"	"00000"	"03840"	"2022-03-23 15:05:28"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000407192"	"00405951"	"1"	"00000"	"03840"	"2022-03-23 15:05:28"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000407193"	"00405952"	"1"	"00000"	"03840"	"2022-03-23 15:05:28"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000407194"	"00405953"	"1"	"00000"	"03840"	"2022-03-23 15:05:28"	""	""	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000407198"	"00405957"	"1"	"00000"	"03840"	"2022-03-23 16:38:56"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407199"	"00405958"	"1"	"00000"	"03840"	"2022-03-23 16:38:56"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407201"	"00405960"	"1"	"00000"	"03840"	"2022-03-23 19:18:42"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407202"	"00405961"	"1"	"00000"	"03840"	"2022-03-23 19:18:42"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407203"	"00405962"	"1"	"00000"	"03840"	"2022-03-23 19:18:42"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407204"	"00405963"	"1"	"00000"	"03840"	"2022-03-23 19:18:42"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407205"	"00405964"	"1"	"00000"	"03840"	"2022-03-23 19:18:42"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407206"	"00405965"	"1"	"00000"	"03840"	"2022-03-23 19:18:42"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407207"	"00405966"	"1"	"00000"	"03840"	"2022-03-23 19:18:42"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407208"	"00405967"	"1"	"00000"	"03840"	"2022-03-23 19:18:42"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407209"	"00405968"	"1"	"00000"	"03840"	"2022-03-23 19:18:42"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407210"	"00405969"	"1"	"00000"	"03840"	"2022-03-23 19:18:42"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407211"	"00405970"	"1"	"00000"	"03840"	"2022-03-23 19:18:42"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407212"	"00405971"	"1"	"00000"	"03840"	"2022-03-24 11:19:14"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407213"	"00405972"	"1"	"00000"	"03840"	"2022-03-24 11:19:14"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407214"	"00405973"	"1"	"00000"	"03840"	"2022-03-24 11:19:14"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407215"	"00405974"	"1"	"00000"	"03840"	"2022-03-24 11:19:14"	""	""	"SEQ"	"DNA"	"blood"	""
"0000407680"	"00406438"	"1"	"00000"	"03840"	"2022-03-30 13:30:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000409651"	"00408394"	"1"	"03468"	"03468"	"2022-04-20 22:39:05"	""	""	"SEQ-NG"	"DNA"	""	""
"0000412614"	"00411344"	"1"	"04333"	"04333"	"2022-06-12 10:48:43"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000415559"	"00414279"	"1"	"00000"	"03840"	"2022-07-28 12:57:04"	""	""	"SEQ"	"DNA"	"blood"	"Whole Exome Sequencing"
"0000415560"	"00414280"	"1"	"00000"	"03840"	"2022-07-28 12:57:04"	""	""	"SEQ"	"DNA"	"blood"	"Whole Exome Sequencing"
"0000415561"	"00414281"	"1"	"00000"	"03840"	"2022-07-28 12:57:04"	""	""	"SEQ"	"DNA"	"blood"	"Whole Exome Sequencing"
"0000415562"	"00414282"	"1"	"00000"	"03840"	"2022-07-28 12:57:04"	""	""	"SEQ"	"DNA"	"blood"	"Whole Exome Sequencing"
"0000415563"	"00414283"	"1"	"00000"	"03840"	"2022-07-28 12:57:04"	""	""	"SEQ"	"DNA"	"blood"	"Whole Exome Sequencing"
"0000415564"	"00414284"	"1"	"00000"	"03840"	"2022-07-28 12:57:04"	""	""	"SEQ"	"DNA"	"blood"	"Whole Exome Sequencing"
"0000415565"	"00414285"	"1"	"00000"	"03840"	"2022-07-28 12:57:04"	""	""	"SEQ"	"DNA"	"blood"	"Whole Exome Sequencing"
"0000415566"	"00414286"	"1"	"00000"	"03840"	"2022-07-28 12:57:04"	""	""	"SEQ"	"DNA"	"blood"	"Whole Exome Sequencing"
"0000415567"	"00414287"	"1"	"00000"	"03840"	"2022-07-28 12:57:04"	""	""	"SEQ"	"DNA"	"blood"	"Whole Exome Sequencing"
"0000415568"	"00414288"	"1"	"00000"	"03840"	"2022-07-28 12:57:04"	""	""	"SEQ"	"DNA"	"blood"	"Whole Exome Sequencing"
"0000415569"	"00414289"	"1"	"00000"	"03840"	"2022-07-28 12:57:04"	""	""	"SEQ"	"DNA"	"blood"	"Whole Exome Sequencing"
"0000415570"	"00414290"	"1"	"00000"	"03840"	"2022-07-28 12:57:04"	""	""	"SEQ"	"DNA"	"blood"	"Whole Exome Sequencing"
"0000415571"	"00414291"	"1"	"00000"	"03840"	"2022-07-28 12:57:04"	""	""	"SEQ"	"DNA"	"blood"	"Whole Exome Sequencing"
"0000415572"	"00414292"	"1"	"00000"	"03840"	"2022-07-28 12:57:04"	""	""	"SEQ"	"DNA"	"blood"	"Whole Exome Sequencing"
"0000415573"	"00414293"	"1"	"00000"	"03840"	"2022-07-28 12:57:04"	""	""	"SEQ"	"DNA"	"blood"	"Whole Exome Sequencing"
"0000415574"	"00414294"	"1"	"00000"	"03840"	"2022-07-28 12:57:04"	""	""	"SEQ"	"DNA"	"blood"	"Whole Exome Sequencing"
"0000415575"	"00414295"	"1"	"00000"	"03840"	"2022-07-28 12:57:04"	""	""	"SEQ"	"DNA"	"blood"	"Whole Exome Sequencing"
"0000415576"	"00414296"	"1"	"00000"	"03840"	"2022-07-28 12:57:04"	""	""	"SEQ"	"DNA"	"blood"	"Whole Exome Sequencing"
"0000415577"	"00414297"	"1"	"00000"	"03840"	"2022-07-28 12:57:04"	""	""	"SEQ"	"DNA"	"blood"	"Whole Exome Sequencing"
"0000415578"	"00414298"	"1"	"00000"	"03840"	"2022-07-28 12:57:04"	""	""	"SEQ"	"DNA"	"blood"	"Whole Exome Sequencing"
"0000415579"	"00414299"	"1"	"00000"	"03840"	"2022-07-28 12:57:04"	""	""	"SEQ"	"DNA"	"blood"	"Whole Exome Sequencing"
"0000415580"	"00414300"	"1"	"00000"	"03840"	"2022-07-28 12:57:04"	""	""	"SEQ"	"DNA"	"blood"	"Whole Exome Sequencing"
"0000415581"	"00414301"	"1"	"00000"	"03840"	"2022-07-28 12:57:04"	""	""	"SEQ"	"DNA"	"blood"	"Whole Exome Sequencing"
"0000415582"	"00414302"	"1"	"00000"	"03840"	"2022-07-28 12:57:04"	""	""	"SEQ"	"DNA"	"blood"	"Whole Exome Sequencing"
"0000415583"	"00414303"	"1"	"00000"	"03840"	"2022-07-28 12:57:04"	""	""	"SEQ"	"DNA"	"blood"	"Whole Exome Sequencing"
"0000415584"	"00414304"	"1"	"00000"	"03840"	"2022-07-28 12:57:04"	""	""	"SEQ"	"DNA"	"blood"	"Whole Exome Sequencing"
"0000415585"	"00414305"	"1"	"00000"	"03840"	"2022-07-28 12:57:04"	""	""	"SEQ"	"DNA"	"blood"	"Whole Exome Sequencing"
"0000420995"	"00419690"	"1"	"04405"	"00006"	"2022-10-21 12:50:15"	""	""	"MIPsm"	"DNA"	""	"smMIPs 105 iMD/AMD genes"
"0000420996"	"00419691"	"1"	"04405"	"00006"	"2022-10-21 12:50:15"	""	""	"MIPsm"	"DNA"	""	"smMIPs 105 iMD/AMD genes"
"0000421745"	"00420436"	"1"	"00000"	"03840"	"2022-11-02 10:32:06"	""	""	"SEQ-NG"	"DNA"	""	"targeted 212 IRD-related genes"
"0000421783"	"00420474"	"1"	"00000"	"03840"	"2022-11-02 10:32:06"	""	""	"SEQ-NG"	"DNA"	""	"targeted 212 IRD-related genes"
"0000421791"	"00420482"	"1"	"00000"	"03840"	"2022-11-02 10:32:06"	""	""	"SEQ-NG"	"DNA"	""	"targeted 212 IRD-related genes"
"0000421829"	"00420520"	"1"	"00000"	"03840"	"2022-11-02 10:32:06"	""	""	"SEQ-NG"	"DNA"	""	"targeted 212 IRD-related genes"
"0000428219"	"00426899"	"1"	"00000"	"03840"	"2022-12-03 18:53:15"	""	""	"SEQ-NG;SEQ"	"DNA"	"saliva"	"panel-based next generation sequencing"
"0000428220"	"00426900"	"1"	"00000"	"03840"	"2022-12-03 18:53:15"	""	""	"SEQ-NG;SEQ"	"DNA"	"saliva"	"panel-based next generation sequencing"
"0000428221"	"00426901"	"1"	"00000"	"03840"	"2022-12-03 18:53:15"	""	""	"SEQ-NG;SEQ"	"DNA"	"saliva"	"panel-based next generation sequencing"
"0000431075"	"00429662"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431087"	"00429674"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431098"	"00429685"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431149"	"00429736"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431411"	"00429998"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431415"	"00430002"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000438088"	"00436602"	"1"	"04552"	"04552"	"2023-09-23 04:47:05"	""	""	"SEQ-NG-I"	"DNA"	"Buccal swab"	""
"0000446447"	"00444878"	"1"	"00006"	"00006"	"2023-12-28 14:50:54"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"792 gene panel"
"0000446448"	"00444879"	"1"	"00006"	"00006"	"2023-12-28 14:50:54"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"792 gene panel"
"0000448056"	"00446483"	"1"	"00006"	"00006"	"2024-01-17 16:49:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"792 gene panel"
"0000448057"	"00446484"	"1"	"00006"	"00006"	"2024-01-17 16:49:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"792 gene panel"
"0000448099"	"00446526"	"1"	"00006"	"00006"	"2024-01-17 16:49:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"792 gene panel"
"0000448100"	"00446527"	"1"	"00006"	"00006"	"2024-01-17 16:49:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"792 gene panel"
"0000448522"	"00446945"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448611"	"00447034"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448613"	"00447036"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448614"	"00447037"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448615"	"00447038"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448616"	"00447039"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448617"	"00447040"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448618"	"00447041"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448619"	"00447042"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448620"	"00447043"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448621"	"00447044"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448728"	"00447151"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448770"	"00447193"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448880"	"00447303"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449096"	"00447519"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449277"	"00447700"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000452310"	"00450712"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452311"	"00450713"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452312"	"00450714"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452313"	"00450715"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452314"	"00450716"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452315"	"00450717"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452316"	"00450718"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452317"	"00450719"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452318"	"00450720"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452364"	"00450766"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452634"	"00451035"	"1"	"00006"	"00006"	"2024-05-31 11:39:36"	""	""	"SEQ"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000462759"	"00461127"	"1"	"00006"	"00006"	"2025-01-31 08:52:59"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1711
"{{screeningid}}"	"{{geneid}}"
"0000000102"	"B3GLCT"
"0000000102"	"BEST1"
"0000000102"	"MECP2"
"0000000102"	"NF1"
"0000000102"	"NSD1"
"0000000102"	"RS1"
"0000033230"	"BEST1"
"0000033230"	"RP2"
"0000033238"	"BEST1"
"0000033238"	"CRB1"
"0000033238"	"NPHP4"
"0000033238"	"RLBP1"
"0000100491"	"USH2A"
"0000156256"	"BEST1"
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"0000335799"	"PDE6B"
"0000336318"	"BEST1"
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"0000336979"	"BEST1"
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"0000360661"	"BEST1"
"0000360661"	"PRPH2"
"0000360662"	"BEST1"
"0000360662"	"PRPH2"
"0000360663"	"BEST1"
"0000360663"	"PRPH2"
"0000360664"	"BEST1"
"0000360664"	"PRPH2"
"0000360665"	"BEST1"
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"0000360666"	"BEST1"
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"0000360667"	"BEST1"
"0000360667"	"PRPH2"
"0000360668"	"BEST1"
"0000360668"	"PRPH2"
"0000360669"	"BEST1"
"0000360669"	"PRPH2"
"0000363907"	"ABCA4"
"0000363907"	"BEST1"
"0000363907"	"C1QTNF5"
"0000363907"	"EFEMP1"
"0000363907"	"ELOVL4"
"0000363907"	"PRPH2"
"0000363907"	"RS1"
"0000363907"	"TIMP3"
"0000363908"	"ABCA4"
"0000363908"	"BEST1"
"0000363908"	"C1QTNF5"
"0000363908"	"EFEMP1"
"0000363908"	"ELOVL4"
"0000363908"	"PRPH2"
"0000363908"	"RS1"
"0000363908"	"TIMP3"
"0000363909"	"ABCA4"
"0000363909"	"BEST1"
"0000363909"	"C1QTNF5"
"0000363909"	"EFEMP1"
"0000363909"	"ELOVL4"
"0000363909"	"PRPH2"
"0000363909"	"RS1"
"0000363909"	"TIMP3"
"0000363910"	"ABCA4"
"0000363910"	"BEST1"
"0000363910"	"C1QTNF5"
"0000363910"	"EFEMP1"
"0000363910"	"ELOVL4"
"0000363910"	"PRPH2"
"0000363910"	"RS1"
"0000363910"	"TIMP3"
"0000363911"	"ABCA4"
"0000363911"	"BEST1"
"0000363911"	"C1QTNF5"
"0000363911"	"EFEMP1"
"0000363911"	"ELOVL4"
"0000363911"	"PRPH2"
"0000363911"	"RS1"
"0000363911"	"TIMP3"
"0000364121"	"BEST1"
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"0000383688"	"USH2A"
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"0000385789"	"GUCY2D"
"0000385790"	"GUCY2D"
"0000385791"	"GUCY2D"
"0000385792"	"GUCY2D"
"0000385793"	"GUCY2D"
"0000385794"	"GUCY2D"
"0000385795"	"GUCY2D"
"0000385796"	"GUCY2D"
"0000385857"	"BEST1"
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"0000393547"	"RPE65"
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"0000393549"	"RPE65"
"0000393823"	"BEST1"
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"0000406186"	"BEST1"
"0000406187"	"BEST1"
"0000406188"	"BEST1"
"0000406189"	"BEST1"
"0000406190"	"BEST1"
"0000406191"	"BEST1"
"0000406192"	"BEST1"
"0000406193"	"BEST1"
"0000406194"	"BEST1"
"0000406195"	"BEST1"
"0000406196"	"BEST1"
"0000406197"	"BEST1"
"0000406198"	"BEST1"
"0000406199"	"BEST1"
"0000406200"	"BEST1"
"0000406201"	"BEST1"
"0000406202"	"BEST1"
"0000406203"	"BEST1"
"0000406204"	"BEST1"
"0000406205"	"BEST1"
"0000406228"	"BEST1"
"0000406229"	"BEST1"
"0000406230"	"BEST1"
"0000406231"	"BEST1"
"0000406232"	"BEST1"
"0000406233"	"BEST1"
"0000406236"	"BEST1"
"0000406237"	"BEST1"
"0000406238"	"BEST1"
"0000406239"	"BEST1"
"0000406240"	"BEST1"
"0000406241"	"BEST1"
"0000406242"	"BEST1"
"0000406243"	"BEST1"
"0000406244"	"BEST1"
"0000406248"	"BEST1"
"0000406249"	"BEST1"
"0000406250"	"BEST1"
"0000406251"	"BEST1"
"0000406252"	"BEST1"
"0000406253"	"BEST1"
"0000406254"	"BEST1"
"0000406255"	"BEST1"
"0000406256"	"BEST1"
"0000406257"	"BEST1"
"0000406258"	"BEST1"
"0000406259"	"BEST1"
"0000406260"	"BEST1"
"0000406261"	"BEST1"
"0000406262"	"BEST1"
"0000406263"	"BEST1"
"0000406264"	"BEST1"
"0000406265"	"BEST1"
"0000406266"	"BEST1"
"0000406267"	"BEST1"
"0000406268"	"BEST1"
"0000406269"	"BEST1"
"0000406270"	"BEST1"
"0000406271"	"BEST1"
"0000406272"	"BEST1"
"0000406278"	"BEST1"
"0000406279"	"BEST1"
"0000406280"	"BEST1"
"0000406281"	"BEST1"
"0000406282"	"BEST1"
"0000406283"	"BEST1"
"0000406284"	"BEST1"
"0000406285"	"BEST1"
"0000406286"	"BEST1"
"0000406287"	"BEST1"
"0000406288"	"BEST1"
"0000406289"	"BEST1"
"0000406290"	"BEST1"
"0000406291"	"BEST1"
"0000406292"	"BEST1"
"0000406293"	"BEST1"
"0000406294"	"BEST1"
"0000406295"	"BEST1"
"0000406296"	"BEST1"
"0000406297"	"BEST1"
"0000406298"	"BEST1"
"0000406299"	"BEST1"
"0000406300"	"BEST1"
"0000406301"	"BEST1"
"0000406302"	"BEST1"
"0000406303"	"BEST1"
"0000406304"	"BEST1"
"0000406305"	"BEST1"
"0000406306"	"BEST1"
"0000406307"	"BEST1"
"0000406308"	"BEST1"
"0000406309"	"BEST1"
"0000406310"	"BEST1"
"0000406311"	"BEST1"
"0000406312"	"BEST1"
"0000406313"	"BEST1"
"0000406314"	"BEST1"
"0000406315"	"BEST1"
"0000406316"	"BEST1"
"0000406317"	"BEST1"
"0000406318"	"BEST1"
"0000406319"	"BEST1"
"0000406320"	"BEST1"
"0000406321"	"BEST1"
"0000406324"	"BEST1"
"0000406325"	"BEST1"
"0000406327"	"BEST1"
"0000406329"	"BEST1"
"0000406342"	"BEST1"
"0000406343"	"BEST1"
"0000406344"	"BEST1"
"0000406345"	"BEST1"
"0000406346"	"BEST1"
"0000406347"	"BEST1"
"0000406348"	"BEST1"
"0000406349"	"BEST1"
"0000406350"	"BEST1"
"0000406351"	"BEST1"
"0000406352"	"BEST1"
"0000406353"	"BEST1"
"0000406354"	"BEST1"
"0000406355"	"BEST1"
"0000406356"	"BEST1"
"0000406357"	"BEST1"
"0000406358"	"BEST1"
"0000406359"	"BEST1"
"0000406418"	"BEST1"
"0000406419"	"BEST1"
"0000406420"	"BEST1"
"0000406421"	"BEST1"
"0000406422"	"BEST1"
"0000406423"	"BEST1"
"0000406424"	"BEST1"
"0000406425"	"BEST1"
"0000406426"	"BEST1"
"0000406427"	"BEST1"
"0000406428"	"BEST1"
"0000406514"	"BEST1"
"0000406515"	"BEST1"
"0000406516"	"BEST1"
"0000406517"	"BEST1"
"0000406518"	"BEST1"
"0000406519"	"BEST1"
"0000406520"	"BEST1"
"0000406521"	"BEST1"
"0000406522"	"BEST1"
"0000406523"	"BEST1"
"0000406524"	"BEST1"
"0000406525"	"BEST1"
"0000406526"	"BEST1"
"0000406527"	"BEST1"
"0000406528"	"BEST1"
"0000406529"	"BEST1"
"0000406530"	"BEST1"
"0000406531"	"BEST1"
"0000406532"	"BEST1"
"0000406533"	"BEST1"
"0000406534"	"BEST1"
"0000406535"	"BEST1"
"0000406536"	"BEST1"
"0000406537"	"BEST1"
"0000406538"	"BEST1"
"0000406539"	"BEST1"
"0000406540"	"BEST1"
"0000406541"	"BEST1"
"0000406542"	"BEST1"
"0000406543"	"BEST1"
"0000406544"	"BEST1"
"0000406545"	"BEST1"
"0000406546"	"BEST1"
"0000406547"	"BEST1"
"0000406548"	"BEST1"
"0000406549"	"BEST1"
"0000406550"	"BEST1"
"0000406551"	"BEST1"
"0000406552"	"BEST1"
"0000406553"	"BEST1"
"0000406554"	"BEST1"
"0000406555"	"BEST1"
"0000406556"	"BEST1"
"0000406557"	"BEST1"
"0000406558"	"BEST1"
"0000406559"	"BEST1"
"0000406560"	"BEST1"
"0000406561"	"BEST1"
"0000406562"	"BEST1"
"0000406563"	"BEST1"
"0000406564"	"BEST1"
"0000406565"	"BEST1"
"0000406566"	"BEST1"
"0000406567"	"BEST1"
"0000406568"	"BEST1"
"0000406569"	"BEST1"
"0000406570"	"BEST1"
"0000406571"	"BEST1"
"0000406572"	"BEST1"
"0000406573"	"BEST1"
"0000406574"	"BEST1"
"0000406575"	"BEST1"
"0000406576"	"BEST1"
"0000406577"	"BEST1"
"0000406578"	"BEST1"
"0000406579"	"BEST1"
"0000406580"	"BEST1"
"0000406581"	"BEST1"
"0000406582"	"BEST1"
"0000406583"	"BEST1"
"0000406584"	"BEST1"
"0000406585"	"BEST1"
"0000406586"	"BEST1"
"0000406587"	"BEST1"
"0000406588"	"BEST1"
"0000406589"	"BEST1"
"0000406590"	"BEST1"
"0000406591"	"BEST1"
"0000406592"	"BEST1"
"0000406593"	"BEST1"
"0000406594"	"BEST1"
"0000406595"	"BEST1"
"0000406596"	"BEST1"
"0000406597"	"BEST1"
"0000406598"	"BEST1"
"0000406599"	"BEST1"
"0000406600"	"BEST1"
"0000406601"	"BEST2"
"0000406602"	"BEST3"
"0000406603"	"BEST4"
"0000406626"	"BEST1"
"0000406627"	"BEST1"
"0000406628"	"BEST1"
"0000406629"	"BEST1"
"0000406630"	"BEST1"
"0000406631"	"BEST1"
"0000406632"	"BEST1"
"0000406633"	"BEST1"
"0000406634"	"BEST1"
"0000406635"	"BEST1"
"0000406636"	"BEST1"
"0000406637"	"BEST1"
"0000406638"	"BEST1"
"0000406639"	"BEST1"
"0000406640"	"BEST1"
"0000406641"	"BEST1"
"0000406642"	"BEST1"
"0000406643"	"BEST1"
"0000406644"	"BEST1"
"0000406645"	"BEST1"
"0000406646"	"BEST1"
"0000406647"	"BEST1"
"0000406648"	"BEST1"
"0000406649"	"BEST1"
"0000406650"	"BEST1"
"0000406651"	"BEST1"
"0000406652"	"BEST1"
"0000406653"	"BEST1"
"0000406654"	"BEST1"
"0000406655"	"BEST1"
"0000406656"	"BEST1"
"0000406657"	"BEST1"
"0000406658"	"BEST1"
"0000406659"	"BEST1"
"0000406660"	"BEST1"
"0000406661"	"BEST1"
"0000406662"	"BEST1"
"0000406663"	"BEST1"
"0000406664"	"BEST1"
"0000406665"	"BEST1"
"0000406666"	"BEST1"
"0000406667"	"BEST1"
"0000406674"	"BEST1"
"0000406703"	"BEST1"
"0000406704"	"BEST1"
"0000406705"	"BEST1"
"0000406706"	"BEST1"
"0000406707"	"BEST1"
"0000406708"	"BEST1"
"0000406709"	"BEST1"
"0000406710"	"BEST1"
"0000406711"	"BEST1"
"0000406712"	"BEST1"
"0000406713"	"BEST1"
"0000406714"	"BEST1"
"0000406715"	"BEST1"
"0000406716"	"BEST1"
"0000406717"	"BEST1"
"0000406718"	"BEST1"
"0000406719"	"BEST1"
"0000406720"	"BEST1"
"0000406721"	"BEST1"
"0000406722"	"BEST1"
"0000406723"	"BEST1"
"0000406724"	"BEST1"
"0000406725"	"BEST1"
"0000406726"	"BEST1"
"0000406727"	"BEST1"
"0000406728"	"BEST1"
"0000406737"	"BEST1"
"0000406738"	"BEST1"
"0000406739"	"BEST1"
"0000406740"	"BEST1"
"0000406741"	"BEST1"
"0000406742"	"BEST1"
"0000406743"	"BEST1"
"0000406744"	"BEST1"
"0000406745"	"BEST1"
"0000406746"	"BEST1"
"0000406747"	"BEST1"
"0000406748"	"BEST1"
"0000406749"	"BEST1"
"0000406750"	"BEST1"
"0000406751"	"BEST1"
"0000406752"	"BEST1"
"0000406767"	"BEST1"
"0000406768"	"BEST1"
"0000406769"	"BEST1"
"0000406770"	"BEST1"
"0000406771"	"BEST1"
"0000406772"	"BEST1"
"0000406773"	"BEST1"
"0000406774"	"BEST1"
"0000406775"	"BEST1"
"0000406776"	"BEST1"
"0000406777"	"BEST1"
"0000406778"	"BEST1"
"0000406779"	"BEST1"
"0000406780"	"BEST1"
"0000406781"	"BEST1"
"0000406782"	"BEST1"
"0000406783"	"BEST1"
"0000406784"	"BEST1"
"0000406785"	"BEST1"
"0000406786"	"BEST1"
"0000406787"	"BEST1"
"0000406788"	"BEST1"
"0000406789"	"BEST1"
"0000406790"	"BEST1"
"0000406791"	"BEST1"
"0000406792"	"BEST1"
"0000406793"	"BEST1"
"0000406794"	"BEST1"
"0000406795"	"BEST1"
"0000406796"	"BEST1"
"0000406797"	"BEST1"
"0000406798"	"BEST1"
"0000406799"	"BEST1"
"0000406800"	"BEST1"
"0000406801"	"BEST1"
"0000406802"	"BEST1"
"0000406803"	"BEST1"
"0000406804"	"BEST1"
"0000406805"	"BEST1"
"0000406806"	"BEST1"
"0000406807"	"BEST1"
"0000406808"	"BEST1"
"0000406809"	"BEST1"
"0000406810"	"BEST1"
"0000406811"	"BEST1"
"0000406812"	"BEST1"
"0000406813"	"BEST1"
"0000406814"	"BEST1"
"0000406815"	"BEST1"
"0000406816"	"BEST1"
"0000406817"	"BEST1"
"0000406818"	"BEST1"
"0000406819"	"BEST1"
"0000406820"	"BEST1"
"0000406821"	"BEST1"
"0000406822"	"BEST1"
"0000406823"	"BEST1"
"0000406824"	"BEST1"
"0000406825"	"BEST1"
"0000406826"	"BEST1"
"0000406827"	"BEST1"
"0000406828"	"BEST1"
"0000406829"	"BEST1"
"0000406830"	"BEST1"
"0000406831"	"BEST1"
"0000406832"	"BEST1"
"0000406833"	"BEST1"
"0000406834"	"BEST1"
"0000406835"	"BEST1"
"0000406836"	"BEST1"
"0000406837"	"BEST1"
"0000406838"	"BEST1"
"0000406839"	"BEST1"
"0000406840"	"BEST1"
"0000406841"	"BEST1"
"0000406842"	"BEST1"
"0000406843"	"BEST1"
"0000406844"	"BEST1"
"0000406845"	"BEST1"
"0000406846"	"BEST1"
"0000406847"	"BEST1"
"0000406848"	"BEST1"
"0000406849"	"BEST1"
"0000406850"	"BEST1"
"0000406851"	"BEST1"
"0000406852"	"BEST1"
"0000406853"	"BEST1"
"0000406854"	"BEST1"
"0000406855"	"BEST1"
"0000406856"	"BEST1"
"0000406857"	"BEST1"
"0000406858"	"BEST1"
"0000406859"	"BEST1"
"0000406914"	"BEST1"
"0000406915"	"BEST1"
"0000406916"	"BEST1"
"0000406917"	"BEST1"
"0000406918"	"BEST1"
"0000406919"	"BEST1"
"0000406920"	"BEST1"
"0000406921"	"BEST1"
"0000406922"	"BEST1"
"0000406923"	"BEST1"
"0000406924"	"BEST1"
"0000406925"	"BEST1"
"0000406926"	"BEST1"
"0000406927"	"BEST1"
"0000406928"	"BEST1"
"0000406929"	"BEST1"
"0000406930"	"BEST1"
"0000406931"	"BEST1"
"0000406932"	"BEST1"
"0000406933"	"BEST1"
"0000406934"	"BEST1"
"0000406935"	"BEST1"
"0000406936"	"BEST1"
"0000406937"	"BEST1"
"0000406938"	"BEST1"
"0000406939"	"BEST1"
"0000406940"	"BEST1"
"0000406941"	"BEST1"
"0000406942"	"BEST1"
"0000406943"	"BEST1"
"0000406944"	"BEST1"
"0000406945"	"BEST1"
"0000406946"	"BEST1"
"0000406947"	"BEST1"
"0000406948"	"BEST1"
"0000406949"	"BEST1"
"0000406958"	"BEST1"
"0000406970"	"BEST1"
"0000406971"	"BEST1"
"0000406972"	"BEST1"
"0000406981"	"BEST1"
"0000406982"	"BEST1"
"0000406983"	"BEST1"
"0000406984"	"BEST1"
"0000406985"	"BEST1"
"0000406986"	"BEST1"
"0000406987"	"BEST1"
"0000406988"	"BEST1"
"0000406989"	"BEST1"
"0000406990"	"BEST1"
"0000406991"	"BEST1"
"0000406992"	"BEST1"
"0000407020"	"BEST1"
"0000407021"	"BEST1"
"0000407025"	"BEST1"
"0000407026"	"BEST1"
"0000407027"	"BEST1"
"0000407028"	"BEST1"
"0000407029"	"BEST1"
"0000407030"	"BEST1"
"0000407031"	"BEST1"
"0000407032"	"BEST1"
"0000407033"	"BEST1"
"0000407034"	"BEST1"
"0000407035"	"BEST1"
"0000407036"	"BEST1"
"0000407037"	"BEST1"
"0000407038"	"BEST1"
"0000407039"	"BEST1"
"0000407040"	"BEST1"
"0000407041"	"BEST1"
"0000407042"	"BEST1"
"0000407049"	"BEST1"
"0000407050"	"BEST1"
"0000407147"	"BEST1"
"0000407150"	"BEST1"
"0000407154"	"BEST1"
"0000407155"	"BEST1"
"0000407156"	"BEST1"
"0000407157"	"BEST1"
"0000407158"	"BEST1"
"0000407159"	"BEST1"
"0000407160"	"BEST1"
"0000407161"	"BEST1"
"0000407162"	"BEST1"
"0000407163"	"BEST1"
"0000407164"	"BEST1"
"0000407165"	"BEST1"
"0000407166"	"BEST1"
"0000407167"	"BEST1"
"0000407168"	"BEST1"
"0000407169"	"BEST1"
"0000407170"	"BEST1"
"0000407171"	"BEST1"
"0000407172"	"BEST1"
"0000407173"	"BEST1"
"0000407174"	"BEST1"
"0000407175"	"BEST1"
"0000407176"	"BEST1"
"0000407177"	"BEST1"
"0000407178"	"BEST1"
"0000407179"	"BEST1"
"0000407180"	"BEST1"
"0000407181"	"BEST1"
"0000407182"	"BEST1"
"0000407183"	"BEST1"
"0000407184"	"BEST1"
"0000407185"	"BEST1"
"0000407186"	"BEST1"
"0000407187"	"BEST1"
"0000407188"	"BEST1"
"0000407189"	"BEST1"
"0000407190"	"BEST1"
"0000407191"	"BEST1"
"0000407192"	"BEST1"
"0000407193"	"BEST1"
"0000407194"	"BEST1"
"0000407198"	"BEST1"
"0000407199"	"BEST1"
"0000407201"	"BEST1"
"0000407202"	"BEST1"
"0000407203"	"BEST1"
"0000407204"	"BEST1"
"0000407205"	"BEST1"
"0000407206"	"BEST1"
"0000407207"	"BEST1"
"0000407208"	"BEST1"
"0000407209"	"BEST1"
"0000407210"	"BEST1"
"0000407211"	"BEST1"
"0000407212"	"BEST1"
"0000407213"	"BEST1"
"0000407214"	"BEST1"
"0000407215"	"BEST1"
"0000407680"	"BEST1"
"0000409651"	"BEST1"
"0000415559"	"BEST1"
"0000415560"	"BEST1"
"0000415561"	"BEST1"
"0000415562"	"BEST1"
"0000415563"	"BEST1"
"0000415564"	"BEST1"
"0000415565"	"BEST1"
"0000415566"	"BEST1"
"0000415567"	"BEST1"
"0000415568"	"BEST1"
"0000415569"	"BEST1"
"0000415570"	"BEST1"
"0000415571"	"BEST1"
"0000415572"	"BEST1"
"0000415573"	"BEST1"
"0000415574"	"BEST1"
"0000415575"	"BEST1"
"0000415576"	"BEST1"
"0000415577"	"BEST1"
"0000415578"	"BEST1"
"0000415579"	"BEST1"
"0000415580"	"BEST1"
"0000415581"	"BEST1"
"0000415582"	"BEST1"
"0000415583"	"BEST1"
"0000415584"	"BEST1"
"0000415585"	"BEST1"
"0000421745"	"BEST1"
"0000421783"	"BEST1"
"0000421791"	"BEST1"
"0000421829"	"BEST1"
"0000428219"	"BEST1"
"0000428220"	"BEST1"
"0000428221"	"BEST1"
"0000431075"	"BEST1"
"0000431087"	"BEST1"
"0000431098"	"BEST1"
"0000431149"	"BEST1"
"0000431411"	"BEST1"
"0000431415"	"BEST1"
"0000438088"	"BEST1"


## 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 = 2242
"{{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}}"
"0000059529"	"1"	"10"	"11"	"61730325"	"61730325"	"subst"	"0.000446668"	"00229"	"BEST1_000001"	"g.61730325C>T"	""	"{PMID:Neveling 2012:22334370}"	""	""	"predicted benign"	"Germline"	"no"	""	"0"	""	""	"g.61962853C>T"	""	"benign"	""
"0000059530"	"1"	"50"	"11"	"61725611"	"61725612"	"ins"	"0"	"00229"	"BEST1_000002"	"g.61725611_61725612insCTC"	""	"{PMID:Neveling 2012:22334370}"	""	""	""	"Germline"	"no"	""	"0"	""	""	"g.61958139_61958140insCTC"	""	"VUS"	""
"0000247033"	"0"	"10"	"11"	"61722571"	"61722571"	"subst"	"0"	"02330"	"BEST1_000045"	"g.61722571A>C"	""	""	""	"BEST1(NM_001139443.2):c.-28-8A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61955099A>C"	""	"benign"	""
"0000247034"	"0"	"10"	"11"	"61730637"	"61730637"	"subst"	"0.00374471"	"02330"	"BEST1_000059"	"g.61730637A>C"	""	""	""	"BEST1(NM_001139443.2):c.*16A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61963165A>C"	""	"benign"	""
"0000247066"	"0"	"50"	"11"	"61719406"	"61719406"	"subst"	"0"	"02330"	"BEST1_000044"	"g.61719406A>G"	""	""	""	"BEST1(NM_004183.4):c.128A>G (p.Y43C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61951934A>G"	""	"VUS"	""
"0000258651"	"0"	"10"	"11"	"61730100"	"61730100"	"subst"	"0.00201842"	"02330"	"BEST1_000057"	"g.61730100G>A"	""	""	""	"BEST1(NM_001139443.1):c.1294G>A (p.V432I), BEST1(NM_001139443.2):c.1294G>A (p.V432I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61962628G>A"	""	"benign"	""
"0000258652"	"0"	"10"	"11"	"61730555"	"61730555"	"subst"	"0.000964363"	"02330"	"BEST1_000058"	"g.61730555G>A"	""	""	""	"BEST1(NM_001139443.2):c.1749G>A (p.S583=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61963083G>A"	""	"benign"	""
"0000258653"	"0"	"10"	"11"	"61724458"	"61724458"	"subst"	"0.00139435"	"02330"	"BEST1_000047"	"g.61724458G>A"	""	""	""	"BEST1(NM_001139443.1):c.444G>A (p.Q148=), BEST1(NM_001139443.2):c.444G>A (p.Q148=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61956986G>A"	""	"benign"	""
"0000258654"	"0"	"10"	"11"	"61724841"	"61724841"	"subst"	"0.000532135"	"02330"	"BEST1_000048"	"g.61724841C>G"	""	""	""	"BEST1(NM_001139443.2):c.457-18C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61957369C>G"	""	"benign"	""
"0000258655"	"0"	"30"	"11"	"61724853"	"61724853"	"subst"	"0.000970606"	"02330"	"BEST1_000019"	"g.61724853C>T"	""	""	""	"BEST1(NM_001363593.2):c.-539-6C>T, BEST1(NM_004183.3):c.637-6C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61957381C>T"	""	"likely benign"	""
"0000258656"	"0"	"50"	"11"	"61724863"	"61724863"	"subst"	"0"	"02330"	"BEST1_000049"	"g.61724863T>C"	""	""	""	"BEST1(NM_001139443.2):c.461T>C (p.M154T), BEST1(NM_004183.4):c.641T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61957391T>C"	""	"VUS"	""
"0000258658"	"0"	"30"	"11"	"61725648"	"61725648"	"subst"	"0"	"02330"	"BEST1_000052"	"g.61725648C>T"	""	""	""	"BEST1(NM_001139443.2):c.565C>T (p.L189=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61958176C>T"	""	"likely benign"	""
"0000258659"	"0"	"90"	"11"	"61722670"	"61722670"	"subst"	"0"	"02330"	"BEST1_000011"	"g.61722670C>G"	""	""	""	"BEST1(NM_001139443.2):c.64C>G (p.L22V), BEST1(NM_004183.3):c.244C>G (p.L82V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61955198C>G"	""	"pathogenic"	""
"0000258660"	"0"	"90"	"11"	"61725751"	"61725753"	"del"	"0"	"02330"	"BEST1_000053"	"g.61725751_61725753del"	""	""	""	"BEST1(NM_001139443.2):c.668_670delTCT (p.F223del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61958279_61958281del"	""	"pathogenic"	""
"0000258661"	"0"	"10"	"11"	"61726953"	"61726953"	"subst"	"0.00396045"	"02330"	"BEST1_000055"	"g.61726953C>A"	""	""	""	"BEST1(NM_001139443.2):c.688-17C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61959481C>A"	""	"benign"	""
"0000259250"	"0"	"10"	"11"	"61719387"	"61719387"	"subst"	"0.486784"	"02325"	"BEST1_000003"	"g.61719387T>C"	""	""	""	"BEST1(NM_004183.3):c.109T>C (p.L37=), BEST1(NM_004183.4):c.109T>C (p.L37=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61951915T>C"	""	"benign"	""
"0000259251"	"0"	"10"	"11"	"61730036"	"61730036"	"subst"	"0.227228"	"02325"	"BEST1_000039"	"g.61730036G>A"	""	""	""	"BEST1(NM_001139443.2):c.1230G>A (p.T410=), BEST1(NM_004183.3):c.1410G>A (p.T470=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61962564G>A"	""	"benign"	""
"0000259252"	"0"	"10"	"11"	"61730234"	"61730234"	"subst"	"0.459148"	"02325"	"BEST1_000041"	"g.61730234T>C"	""	""	""	"BEST1(NM_001139443.2):c.1428T>C (p.T476=), BEST1(NM_004183.3):c.1608T>C (p.T536=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61962762T>C"	""	"benign"	""
"0000259253"	"0"	"10"	"11"	"61722645"	"61722645"	"subst"	"0.204598"	"02325"	"BEST1_000010"	"g.61722645C>A"	""	""	""	"BEST1(NM_001139443.2):c.39C>A (p.I13=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61955173C>A"	""	"benign"	""
"0000263676"	"0"	"10"	"11"	"61719387"	"61719387"	"subst"	"0.486784"	"01943"	"BEST1_000003"	"g.61719387T>C"	""	""	""	"BEST1(NM_004183.3):c.109T>C (p.L37=), BEST1(NM_004183.4):c.109T>C (p.L37=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61951915T>C"	""	"benign"	""
"0000263677"	"0"	"10"	"11"	"61730036"	"61730036"	"subst"	"0.227228"	"01943"	"BEST1_000039"	"g.61730036G>A"	""	""	""	"BEST1(NM_001139443.2):c.1230G>A (p.T410=), BEST1(NM_004183.3):c.1410G>A (p.T470=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61962564G>A"	""	"benign"	""
"0000263678"	"0"	"30"	"11"	"61730100"	"61730100"	"subst"	"0.00201842"	"01943"	"BEST1_000057"	"g.61730100G>A"	""	""	""	"BEST1(NM_001139443.1):c.1294G>A (p.V432I), BEST1(NM_001139443.2):c.1294G>A (p.V432I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61962628G>A"	""	"likely benign"	""
"0000263679"	"0"	"10"	"11"	"61730234"	"61730234"	"subst"	"0.459148"	"01943"	"BEST1_000041"	"g.61730234T>C"	""	""	""	"BEST1(NM_001139443.2):c.1428T>C (p.T476=), BEST1(NM_004183.3):c.1608T>C (p.T536=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61962762T>C"	""	"benign"	""
"0000263680"	"0"	"10"	"11"	"61730183"	"61730183"	"subst"	"0.175846"	"01943"	"BEST1_000040"	"g.61730183C>T"	""	""	""	"BEST1(NM_004183.3):c.1557C>T (p.S519=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61962711C>T"	""	"benign"	""
"0000263681"	"0"	"90"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"01943"	"BEST1_000016"	"g.61723364G>A"	""	""	""	"BEST1(NM_001139443.2):c.242G>A (p.R81H), BEST1(NM_004183.3):c.422G>A (p.R141H), BEST1(NM_004183.4):c.422G>A (p.(Arg141His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61955892G>A"	""	"pathogenic"	""
"0000263682"	"0"	"30"	"11"	"61724853"	"61724853"	"subst"	"0.000970606"	"01943"	"BEST1_000019"	"g.61724853C>T"	""	""	""	"BEST1(NM_001363593.2):c.-539-6C>T, BEST1(NM_004183.3):c.637-6C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61957381C>T"	""	"likely benign"	""
"0000263683"	"0"	"90"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"01943"	"BEST1_000021"	"g.61724875G>A"	""	""	""	"BEST1(NM_001139443.1):c.473G>A (p.R158H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61957403G>A"	""	"pathogenic"	""
"0000263684"	"0"	"10"	"11"	"61724292"	"61724292"	"subst"	"0.403953"	"01943"	"BEST1_000046"	"g.61724292C>T"	""	""	""	"BEST1(NM_004183.3):c.482-24C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61956820C>T"	""	"benign"	""
"0000263685"	"0"	"90"	"11"	"61724901"	"61724901"	"subst"	"0"	"01943"	"BEST1_000022"	"g.61724901T>A"	""	""	""	"BEST1(NM_001139443.2):c.499T>A (p.Y167N), BEST1(NM_004183.3):c.679T>A (p.Y227N), BEST1(NM_004183.4):c.679T>A (p.(Tyr227Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61957429T>A"	""	"pathogenic"	""
"0000263686"	"0"	"90"	"11"	"61725763"	"61725763"	"subst"	"1.21838E-5"	"01943"	"BEST1_000054"	"g.61725763G>A"	""	""	""	"BEST1(NM_001139443.1):c.680G>A (p.W227*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61958291G>A"	""	"pathogenic"	""
"0000338507"	"0"	"30"	"11"	"61724853"	"61724853"	"subst"	"0.000970606"	"02327"	"BEST1_000019"	"g.61724853C>T"	""	""	""	"BEST1(NM_001363593.2):c.-539-6C>T, BEST1(NM_004183.3):c.637-6C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61957381C>T"	""	"likely benign"	""
"0000339205"	"0"	"10"	"11"	"61730183"	"61730183"	"subst"	"0.175846"	"02327"	"BEST1_000040"	"g.61730183C>T"	""	""	""	"BEST1(NM_004183.3):c.1557C>T (p.S519=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61962711C>T"	""	"benign"	""
"0000340299"	"0"	"10"	"11"	"61719387"	"61719387"	"subst"	"0.486784"	"02327"	"BEST1_000003"	"g.61719387T>C"	""	""	""	"BEST1(NM_004183.3):c.109T>C (p.L37=), BEST1(NM_004183.4):c.109T>C (p.L37=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61951915T>C"	""	"benign"	""
"0000340300"	"0"	"10"	"11"	"61722627"	"61722627"	"subst"	"0.0338859"	"02327"	"BEST1_000009"	"g.61722627G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61955155G>C"	""	"benign"	""
"0000340301"	"0"	"10"	"11"	"61722645"	"61722645"	"subst"	"0.204598"	"02327"	"BEST1_000010"	"g.61722645C>A"	""	""	""	"BEST1(NM_001139443.2):c.39C>A (p.I13=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61955173C>A"	""	"benign"	""
"0000340302"	"0"	"10"	"11"	"61724918"	"61724918"	"subst"	"0.00926242"	"02327"	"BEST1_000024"	"g.61724918C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61957446C>A"	""	"benign"	""
"0000340303"	"0"	"10"	"11"	"61727438"	"61727438"	"subst"	"0.0221466"	"02327"	"BEST1_000038"	"g.61727438C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61959966C>T"	""	"benign"	""
"0000340304"	"0"	"10"	"11"	"61730036"	"61730036"	"subst"	"0.227228"	"02327"	"BEST1_000039"	"g.61730036G>A"	""	""	""	"BEST1(NM_001139443.2):c.1230G>A (p.T410=), BEST1(NM_004183.3):c.1410G>A (p.T470=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61962564G>A"	""	"benign"	""
"0000340305"	"0"	"10"	"11"	"61730234"	"61730234"	"subst"	"0.459148"	"02327"	"BEST1_000041"	"g.61730234T>C"	""	""	""	"BEST1(NM_001139443.2):c.1428T>C (p.T476=), BEST1(NM_004183.3):c.1608T>C (p.T536=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61962762T>C"	""	"benign"	""
"0000341249"	"0"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"02327"	"BEST1_000018"	"g.61724418C>T"	""	""	""	"BEST1(NM_001139443.2):c.404C>T (p.A135V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic"	""
"0000341295"	"0"	"90"	"11"	"61725631"	"61725631"	"subst"	"0"	"02327"	"BEST1_000027"	"g.61725631C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61958159C>T"	""	"pathogenic"	""
"0000341905"	"0"	"70"	"11"	"61719315"	"61719315"	"subst"	"0"	"02327"	"BEST1_000006"	"g.61719315C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61951843C>T"	""	"likely pathogenic"	""
"0000341911"	"0"	"90"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"02327"	"BEST1_000016"	"g.61723364G>A"	""	""	""	"BEST1(NM_001139443.2):c.242G>A (p.R81H), BEST1(NM_004183.3):c.422G>A (p.R141H), BEST1(NM_004183.4):c.422G>A (p.(Arg141His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61955892G>A"	""	"pathogenic"	""
"0000342276"	"0"	"90"	"11"	"61724874"	"61724874"	"subst"	"0"	"02327"	"BEST1_000020"	"g.61724874C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61957402C>T"	""	"pathogenic"	""
"0000342278"	"0"	"90"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"02327"	"BEST1_000021"	"g.61724875G>A"	""	""	""	"BEST1(NM_001139443.1):c.473G>A (p.R158H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61957403G>A"	""	"pathogenic"	""
"0000342448"	"0"	"70"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"02327"	"BEST1_000007"	"g.61719351C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61951879C>T"	""	"likely pathogenic"	""
"0000344004"	"0"	"90"	"11"	"61724904"	"61724904"	"subst"	"0"	"02327"	"BEST1_000023"	"g.61724904G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61957432G>C"	""	"pathogenic"	""
"0000344045"	"0"	"70"	"11"	"61727007"	"61727007"	"subst"	"0"	"02327"	"BEST1_000033"	"g.61727007A>C"	""	""	""	"BEST1(NM_001139443.1):c.725A>C (p.D242A), BEST1(NM_004183.3):c.905A>C (p.D302A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61959535A>C"	""	"likely pathogenic"	""
"0000344046"	"0"	"90"	"11"	"61727006"	"61727006"	"subst"	"0"	"02327"	"BEST1_000032"	"g.61727006G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61959534G>A"	""	"pathogenic"	""
"0000344054"	"0"	"90"	"11"	"61727036"	"61727036"	"subst"	"4.87369E-5"	"02327"	"BEST1_000036"	"g.61727036G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61959564G>A"	""	"pathogenic"	""
"0000344740"	"0"	"70"	"11"	"61726979"	"61726979"	"subst"	"0"	"02327"	"BEST1_000029"	"g.61726979C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61959507C>A"	""	"likely pathogenic"	""
"0000345707"	"0"	"50"	"11"	"61723345"	"61723345"	"subst"	"0"	"02327"	"BEST1_000014"	"g.61723345G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61955873G>A"	""	"VUS"	""
"0000345968"	"0"	"90"	"11"	"61726998"	"61726998"	"subst"	"0"	"02327"	"BEST1_000031"	"g.61726998G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61959526G>C"	""	"pathogenic"	""
"0000346682"	"0"	"70"	"11"	"61727031"	"61727031"	"subst"	"0"	"02327"	"BEST1_000035"	"g.61727031T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61959559T>C"	""	"likely pathogenic"	""
"0000346891"	"0"	"50"	"11"	"61723361"	"61723361"	"subst"	"0"	"02327"	"BEST1_000015"	"g.61723361T>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61955889T>A"	""	"VUS"	""
"0000347067"	"0"	"70"	"11"	"61725739"	"61725739"	"subst"	"0"	"02327"	"BEST1_000028"	"g.61725739T>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61958267T>A"	""	"likely pathogenic"	""
"0000347319"	"0"	"70"	"11"	"61722670"	"61722670"	"subst"	"0"	"02327"	"BEST1_000011"	"g.61722670C>G"	""	""	""	"BEST1(NM_001139443.2):c.64C>G (p.L22V), BEST1(NM_004183.3):c.244C>G (p.L82V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61955198C>G"	""	"likely pathogenic"	""
"0000347812"	"0"	"70"	"11"	"61727389"	"61727389"	"subst"	"4.90132E-5"	"02327"	"BEST1_000037"	"g.61727389T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61959917T>C"	""	"likely pathogenic"	""
"0000348359"	"0"	"90"	"11"	"61726991"	"61726991"	"subst"	"4.06105E-6"	"02327"	"BEST1_000030"	"g.61726991C>T"	""	""	""	"BEST1(NM_004183.3):c.889C>T (p.P297S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61959519C>T"	""	"pathogenic"	""
"0000349609"	"0"	"90"	"11"	"61719294"	"61719294"	"subst"	"0"	"02327"	"BEST1_000004"	"g.61719294A>C"	""	""	""	"BEST1(NM_004183.3):c.16A>C (p.T6P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61951822A>C"	""	"pathogenic"	""
"0000349865"	"0"	"90"	"11"	"61723221"	"61723221"	"subst"	"0"	"02327"	"BEST1_000012"	"g.61723221G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61955749G>C"	""	"pathogenic"	""
"0000349924"	"0"	"30"	"11"	"61723385"	"61723385"	"subst"	"2.11715E-5"	"02327"	"BEST1_000017"	"g.61723385A>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61955913A>T"	""	"likely benign"	""
"0000349992"	"0"	"90"	"11"	"61724901"	"61724901"	"subst"	"0"	"02327"	"BEST1_000022"	"g.61724901T>A"	""	""	""	"BEST1(NM_001139443.2):c.499T>A (p.Y167N), BEST1(NM_004183.3):c.679T>A (p.Y227N), BEST1(NM_004183.4):c.679T>A (p.(Tyr227Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61957429T>A"	""	"pathogenic"	""
"0000349997"	"0"	"90"	"11"	"61724929"	"61724929"	"subst"	"0"	"02327"	"BEST1_000025"	"g.61724929A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61957457A>G"	""	"pathogenic"	""
"0000350707"	"0"	"70"	"11"	"61719303"	"61719303"	"subst"	"0"	"02327"	"BEST1_000005"	"g.61719303G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61951831G>A"	""	"likely pathogenic"	""
"0000358178"	"3"	"90"	"11"	"61719352"	"61719352"	"subst"	"0"	"01243"	"BEST1_000043"	"g.61719352G>A"	""	"Sharon, submitted"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61951880G>A"	""	"pathogenic"	""
"0000358179"	"3"	"90"	"11"	"61730040"	"61730040"	"del"	"0"	"01243"	"BEST1_000056"	"g.61730040del"	""	"Sharon, submitted"	""	""	"Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message."	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000438657"	"0"	"90"	"11"	"61724904"	"61724904"	"subst"	"4.06072E-6"	"01244"	"BEST1_000060"	"g.61724904G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.61957432G>A"	""	"pathogenic"	""
"0000438666"	"0"	"90"	"11"	"61730295"	"61730295"	"subst"	"0.000462907"	"01244"	"BEST1_000061"	"g.61730295G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.61962823G>A"	""	"pathogenic"	""
"0000477009"	"0"	"50"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"02591"	"BEST1_000018"	"g.61724418C>T"	"2/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs200277476"	"0"	""	""	"g.61956946C>T"	""	"VUS"	""
"0000477010"	"3"	"90"	"11"	"61724887"	"61724887"	"subst"	"0"	"02591"	"BEST1_000062"	"g.61724887G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61957415G>A"	""	"pathogenic"	""
"0000477011"	"0"	"90"	"11"	"61725666"	"61725666"	"subst"	"5.27893E-5"	"02591"	"BEST1_000063"	"g.61725666C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs372989281"	"0"	""	""	"g.61958194C>T"	""	"pathogenic"	""
"0000477012"	"0"	"50"	"11"	"61727452"	"61727452"	"subst"	"5.35257E-5"	"02591"	"BEST1_000064"	"g.61727452C>A"	"2/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs563488311"	"0"	""	""	"g.61959980C>A"	""	"VUS"	""
"0000477013"	"0"	"10"	"11"	"61727485"	"61727485"	"subst"	"0.0013356"	"02591"	"BEST1_000065"	"g.61727485C>T"	"32/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs17854138"	"0"	""	""	"g.61960013C>T"	""	"benign"	""
"0000477014"	"0"	"50"	"11"	"61730218"	"61730218"	"subst"	"0"	"02591"	"BEST1_000066"	"g.61730218A>C"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61962746A>C"	""	"VUS"	""
"0000477015"	"0"	"50"	"11"	"61730485"	"61730485"	"subst"	"7.97886E-5"	"02591"	"BEST1_000067"	"g.61730485T>C"	"12/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs192543400"	"0"	""	""	"g.61963013T>C"	""	"VUS"	""
"0000477016"	"0"	"50"	"11"	"61730553"	"61730553"	"subst"	"0.176854"	"02591"	"BEST1_000068"	"g.61730553T>C"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs17185413"	"0"	""	""	"g.61963081T>C"	""	"VUS"	""
"0000477580"	"3"	"90"	"11"	"61725666"	"61725666"	"subst"	"5.27893E-5"	"02591"	"BEST1_000063"	"g.61725666C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs372989281"	"0"	""	""	"g.61958194C>T"	""	"pathogenic"	""
"0000544694"	"0"	"70"	"11"	"61719325"	"61719325"	"subst"	"0"	"02327"	"BEST1_000069"	"g.61719325C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61951853C>A"	""	"likely pathogenic"	""
"0000544695"	"0"	"70"	"11"	"61723229"	"61723229"	"subst"	"0"	"02327"	"BEST1_000070"	"g.61723229A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61955757A>G"	""	"likely pathogenic"	""
"0000544696"	"0"	"50"	"11"	"61723234"	"61723234"	"subst"	"0"	"02327"	"BEST1_000071"	"g.61723234G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61955762G>A"	""	"VUS"	""
"0000544697"	"0"	"50"	"11"	"61723235"	"61723235"	"subst"	"0"	"01943"	"BEST1_000072"	"g.61723235A>G"	""	""	""	"BEST1(NM_001139443.1):c.113A>G (p.E38G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61955763A>G"	""	"VUS"	""
"0000544698"	"0"	"50"	"11"	"61723391"	"61723391"	"subst"	"1.42391E-5"	"02327"	"BEST1_000073"	"g.61723391G>C"	""	""	""	"BEST1(NM_001139443.1):c.269G>C (p.R90P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61955919G>C"	""	"VUS"	""
"0000544699"	"0"	"50"	"11"	"61723505"	"61723505"	"subst"	"0"	"02327"	"BEST1_000074"	"g.61723505A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61956033A>G"	""	"VUS"	""
"0000544700"	"0"	"70"	"11"	"61724438"	"61724438"	"subst"	"1.21889E-5"	"02330"	"BEST1_000075"	"g.61724438C>T"	""	""	""	"BEST1(NM_001139443.2):c.424C>T (p.R142W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61956966C>T"	""	"likely pathogenic"	""
"0000544701"	"0"	"30"	"11"	"61724458"	"61724458"	"subst"	"0.00139435"	"01943"	"BEST1_000047"	"g.61724458G>A"	""	""	""	"BEST1(NM_001139443.1):c.444G>A (p.Q148=), BEST1(NM_001139443.2):c.444G>A (p.Q148=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61956986G>A"	""	"likely benign"	""
"0000544702"	"0"	"10"	"11"	"61725606"	"61725614"	"dup"	"0"	"02325"	"BEST1_000026"	"g.61725606_61725614dup"	""	""	""	"BEST1(NM_001139443.2):c.535-12_535-4dupTCCTCCTCC, BEST1(NM_004183.3):c.715-12_715-4dupTCCTCCTCC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61958134_61958142dup"	""	"benign"	""
"0000544703"	"0"	"30"	"11"	"61725606"	"61725614"	"dup"	"0"	"01943"	"BEST1_000026"	"g.61725606_61725614dup"	""	""	""	"BEST1(NM_001139443.2):c.535-12_535-4dupTCCTCCTCC, BEST1(NM_004183.3):c.715-12_715-4dupTCCTCCTCC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61958134_61958142dup"	""	"likely benign"	""
"0000544704"	"0"	"10"	"11"	"61725609"	"61725614"	"dup"	"0"	"02330"	"BEST1_000076"	"g.61725609_61725614dup"	""	""	""	"BEST1(NM_001139443.2):c.535-12_535-7dupTCCTCC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61958137_61958142dup"	""	"benign"	""
"0000544705"	"0"	"50"	"11"	"61725667"	"61725667"	"subst"	"1.62433E-5"	"02327"	"BEST1_000077"	"g.61725667G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61958195G>A"	""	"VUS"	""
"0000544706"	"0"	"50"	"11"	"61725957"	"61725957"	"subst"	"0"	"02327"	"BEST1_000078"	"g.61725957G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61958485G>A"	""	"VUS"	""
"0000544707"	"0"	"90"	"11"	"61726991"	"61726991"	"subst"	"4.06105E-6"	"01943"	"BEST1_000030"	"g.61726991C>T"	""	""	""	"BEST1(NM_004183.3):c.889C>T (p.P297S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61959519C>T"	""	"pathogenic"	""
"0000544708"	"0"	"10"	"11"	"61727414"	"61727414"	"subst"	"4.09967E-6"	"02330"	"BEST1_000079"	"g.61727414G>A"	""	""	""	"BEST1(NM_001139443.2):c.819G>A (p.E273=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61959942G>A"	""	"benign"	""
"0000544709"	"0"	"50"	"11"	"61727469"	"61727469"	"subst"	"0.000115905"	"01943"	"BEST1_000080"	"g.61727469G>A"	""	""	""	"BEST1(NM_001139443.1):c.874G>A (p.A292T), BEST1(NM_001363593.2):c.82G>A (p.A28T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61959997G>A"	""	"VUS"	""
"0000544710"	"0"	"50"	"11"	"61730029"	"61730029"	"subst"	"4.06138E-6"	"02327"	"BEST1_000081"	"g.61730029C>T"	""	""	""	"BEST1(NM_001139443.1):c.1223C>T (p.P408L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61962557C>T"	""	"VUS"	""
"0000544711"	"0"	"30"	"11"	"61730144"	"61730144"	"subst"	"0"	"01943"	"BEST1_000082"	"g.61730144T>C"	""	""	""	"BEST1(NM_004183.3):c.1518T>C (p.S506=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61962672T>C"	""	"likely benign"	""
"0000544712"	"0"	"30"	"11"	"61730295"	"61730295"	"subst"	"0.000462907"	"01943"	"BEST1_000061"	"g.61730295G>A"	""	""	""	"BEST1(NM_001139443.2):c.1489G>A (p.E497K), BEST1(NM_004183.3):c.1669G>A (p.E557K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61962823G>A"	""	"likely benign"	""
"0000544713"	"0"	"30"	"11"	"61730295"	"61730295"	"subst"	"0.000462907"	"02325"	"BEST1_000061"	"g.61730295G>A"	""	""	""	"BEST1(NM_001139443.2):c.1489G>A (p.E497K), BEST1(NM_004183.3):c.1669G>A (p.E557K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61962823G>A"	""	"likely benign"	""
"0000595592"	"0"	"70"	"11"	"61724915"	"61724915"	"subst"	"0"	"01807"	"BEST1_000083"	"g.61724915T>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.61957443T>A"	""	"likely pathogenic"	""
"0000613469"	"0"	"90"	"11"	"61719295"	"61719295"	"subst"	"0"	"01943"	"BEST1_000084"	"g.61719295C>G"	""	""	""	"BEST1(NM_004183.3):c.17C>G (p.T6R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61951823C>G"	""	"pathogenic"	""
"0000613470"	"0"	"50"	"11"	"61723244"	"61723244"	"subst"	"0"	"02327"	"BEST1_000085"	"g.61723244C>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61955772C>G"	""	"VUS"	""
"0000613471"	"0"	"50"	"11"	"61723391"	"61723391"	"subst"	"1.42391E-5"	"01943"	"BEST1_000073"	"g.61723391G>C"	""	""	""	"BEST1(NM_001139443.1):c.269G>C (p.R90P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61955919G>C"	""	"VUS"	""
"0000613472"	"0"	"50"	"11"	"61727014"	"61727014"	"subst"	"0"	"02327"	"BEST1_000086"	"g.61727014T>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61959542T>G"	""	"VUS"	""
"0000613473"	"0"	"90"	"11"	"61727385"	"61727385"	"subst"	"0"	"02327"	"BEST1_000087"	"g.61727385G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61959913G>T"	""	"pathogenic"	""
"0000613474"	"0"	"50"	"11"	"61730029"	"61730029"	"subst"	"4.06138E-6"	"01943"	"BEST1_000081"	"g.61730029C>T"	""	""	""	"BEST1(NM_001139443.1):c.1223C>T (p.P408L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61962557C>T"	""	"VUS"	""
"0000613475"	"0"	"30"	"11"	"61730081"	"61730081"	"subst"	"4.87381E-5"	"02330"	"BEST1_000088"	"g.61730081G>A"	""	""	""	"BEST1(NM_001139443.2):c.1275G>A (p.A425=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61962609G>A"	""	"likely benign"	""
"0000613476"	"0"	"30"	"11"	"61730145"	"61730145"	"subst"	"0.000926031"	"01943"	"BEST1_000089"	"g.61730145T>C"	""	""	""	"BEST1(NM_001139443.1):c.1339T>C (p.S447P), BEST1(NM_001363593.2):c.547T>C (p.S183P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61962673T>C"	""	"likely benign"	""
"0000613477"	"0"	"90"	"11"	"61730248"	"61730248"	"del"	"0"	"02327"	"BEST1_000090"	"g.61730248del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61962776del"	""	"pathogenic"	""
"0000613478"	"0"	"50"	"11"	"61735105"	"61735105"	"subst"	"0"	"02327"	"BEST1_000091"	"g.61735105G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61967633G>A"	""	"VUS"	""
"0000613479"	"0"	"50"	"11"	"61735118"	"61735118"	"subst"	"0.00058548"	"02327"	"BEST1_000092"	"g.61735118C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61967646C>T"	""	"VUS"	""
"0000622653"	"0"	"90"	"11"	"61722670"	"61722670"	"subst"	"0"	"01943"	"BEST1_000011"	"g.61722670C>G"	""	""	""	"BEST1(NM_001139443.2):c.64C>G (p.L22V), BEST1(NM_004183.3):c.244C>G (p.L82V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.61955198C>G"	""	"pathogenic"	""
"0000648316"	"1"	"50"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"03575"	"BEST1_000016"	"g.61723364G>A"	"2/2786 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs121918284}"	"Germline"	""	"rs121918284"	"0"	""	""	"g.61955892G>A"	""	"VUS"	""
"0000648317"	"1"	"10"	"11"	"61727438"	"61727438"	"subst"	"0.0221466"	"03575"	"BEST1_000038"	"g.61727438C>T"	"13/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"13 heterozygous, no homozygous; {DB:CLININrs1801390}"	"Germline"	""	"rs1801390"	"0"	""	""	"g.61959966C>T"	""	"benign"	""
"0000659724"	"3"	"90"	"11"	"61722608"	"61722608"	"del"	"0"	"01807"	"BEST1_000093"	"g.61722608del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.61955136del"	""	"pathogenic"	""
"0000664807"	"0"	"50"	"11"	"61730235"	"61730235"	"subst"	"8.12123E-6"	"01164"	"BEST1_000094"	"g.61730235G>A"	""	""	""	""	"ACMG grading: PM2\r\nMaculardystrophy at age 9y"	"Germline"	""	"rs780280320"	"0"	""	""	"g.61962763G>A"	""	"VUS"	"ACMG"
"0000664810"	"0"	"70"	"11"	"61727012"	"61727014"	"del"	"0"	"01164"	"BEST1_000034"	"g.61727012_61727014del"	""	""	""	""	"ACMG grading: PS3,PM5,PP3; Desrichard et al. 2011. Breast Cancer Res 13: R119; Roeb et al. 2012. Hum Mol Genet 21: 2738"	"Germline"	""	"rs281865260"	"0"	""	""	"g.61959540_61959542del"	""	"likely pathogenic"	"ACMG"
"0000673636"	"0"	"90"	"11"	"61724893"	"61724893"	"subst"	"0"	"00006"	"BEST1_000095"	"g.61724893T>C"	""	"{PMID:Marcogliese 2018:30057031}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000673654"	"0"	"70"	"11"	"61723219"	"61723225"	"delins"	"0"	"01807"	"BEST1_000096"	"g.61723219_61723225delinsCGGTTGG"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000679235"	"0"	"50"	"11"	"61727482"	"61727482"	"subst"	"2.50267E-5"	"02330"	"BEST1_000097"	"g.61727482G>T"	""	""	""	"BEST1(NM_001363592.1):c.1270G>T (p.E424*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000684426"	"1"	"50"	"11"	"61723198"	"61723198"	"subst"	"0"	"00004"	"BEST1_000101"	"g.61723198G>A"	""	"{PMID:Boulanger-Scemama 2015:26103963}"	""	"NM_001139443.1:c.76G>A"	""	"Germline"	""	"rs121918289"	"0"	""	""	"g.61955726G>A"	""	"VUS"	""
"0000684499"	"1"	"70"	"11"	"61719367"	"61719367"	"subst"	"4.06918E-6"	"00004"	"BEST1_000099"	"g.61719367A>G"	"2/899 cases"	"{PMID:Holtan 2020:31429209}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61951895A>G"	""	"likely pathogenic"	""
"0000684500"	"1"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00004"	"BEST1_000016"	"g.61723364G>A"	"1/899 cases"	"{PMID:Holtan 2020:31429209}"	""	"NM_001139443.1:c.242G>A"	""	"Germline"	""	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic"	""
"0000684501"	"1"	"70"	"11"	"61723345"	"61723345"	"subst"	"0"	"00004"	"BEST1_000014"	"g.61723345G>A"	"9/899 cases"	"{PMID:Holtan 2020:31429209}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61955873G>A"	""	"likely pathogenic"	""
"0000684502"	"1"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00004"	"BEST1_000018"	"g.61724418C>T"	"1/899 cases"	"{PMID:Holtan 2020:31429209}"	""	"NM_001139443.1:c.404C>T"	""	"Germline"	""	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic"	""
"0000684503"	"1"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00004"	"BEST1_000020"	"g.61724874C>T"	"4/899 cases"	"{PMID:Holtan 2020:31429209}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000684504"	"1"	"70"	"11"	"61724925"	"61724925"	"subst"	"0"	"00004"	"BEST1_000107"	"g.61724925G>T"	"1/899 cases"	"{PMID:Holtan 2020:31429209}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61957453G>T"	""	"likely pathogenic"	""
"0000684505"	"1"	"70"	"11"	"61726976"	"61726976"	"subst"	"0"	"00004"	"BEST1_000108"	"g.61726976G>A"	"1/899 cases"	"{PMID:Holtan 2020:31429209}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61959504G>A"	""	"likely pathogenic"	""
"0000684619"	"3"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00004"	"BEST1_000016"	"g.61723364G>A"	"1/899 cases"	"{PMID:Holtan 2020:31429209}"	""	"NM_001139443.1:c.242G>A"	""	"Germline"	""	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic (recessive)"	""
"0000684620"	"3"	"70"	"11"	"61723345"	"61723345"	"subst"	"0"	"00004"	"BEST1_000014"	"g.61723345G>A"	"1/899 cases"	"{PMID:Holtan 2020:31429209}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61955873G>A"	""	"likely pathogenic (recessive)"	""
"0000684651"	"3"	"70"	"11"	"61727389"	"61727389"	"subst"	"4.90132E-5"	"00004"	"BEST1_000037"	"g.61727389T>C"	"2/899 cases"	"{PMID:Holtan 2020:31429209}"	""	"NM_001139443.1:c.794T>C"	""	"Germline"	""	""	"0"	""	""	"g.61959917T>C"	""	"likely pathogenic (recessive)"	""
"0000684692"	"1"	"70"	"11"	"61726990"	"61726990"	"subst"	"0"	"00004"	"BEST1_000110"	"g.61726990C>A"	"1/86 cases"	"{PMID:Kim 2019:31144483}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	"ACMG"
"0000684782"	"0"	"30"	"11"	"61727485"	"61727485"	"subst"	"0.0013356"	"00004"	"BEST1_000065"	"g.61727485C>T"	"frequency 0.015"	"{PMID:Le 2019:31180159}"	""	""	"classification based on frequency in 305 unrelated individuals"	"Germline"	""	""	"0"	""	""	"g.61960013C>T"	""	"likely benign"	""
"0000685028"	"1"	"70"	"11"	"61723346"	"61723346"	"subst"	"0"	"00004"	"BEST1_000104"	"g.61723346G>A"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	"c.[404G>A;967C>A]"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000685029"	"0"	"70"	"11"	"61719307"	"61719307"	"subst"	"0"	"00004"	"BEST1_000098"	"g.61719307C>T"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000685030"	"0"	"90"	"11"	"61719352"	"61719352"	"subst"	"0"	"00004"	"BEST1_000043"	"g.61719352G>A"	"2/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685031"	"0"	"70"	"11"	"61722644"	"61722644"	"subst"	"0"	"00004"	"BEST1_000100"	"g.61722644T>A"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000685032"	"0"	"90"	"11"	"61723236"	"61723236"	"subst"	"0"	"00004"	"BEST1_000102"	"g.61723236G>C"	"3/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685033"	"0"	"70"	"11"	"61723266"	"61723266"	"subst"	"0"	"00004"	"BEST1_000103"	"g.61723266C>G"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000685034"	"0"	"70"	"11"	"61723346"	"61723346"	"subst"	"0"	"00004"	"BEST1_000104"	"g.61723346G>A"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000685035"	"0"	"70"	"11"	"61724454"	"61724454"	"subst"	"0"	"00004"	"BEST1_000105"	"g.61724454T>A"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000685036"	"0"	"90"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00004"	"BEST1_000021"	"g.61724875G>A"	"2/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685037"	"0"	"70"	"11"	"61724887"	"61724887"	"subst"	"0"	"00004"	"BEST1_000106"	"g.61724887G>T"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000685038"	"0"	"70"	"11"	"61726976"	"61726976"	"subst"	"0"	"00004"	"BEST1_000108"	"g.61726976G>A"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000685039"	"0"	"90"	"11"	"61726989"	"61726989"	"subst"	"0"	"00004"	"BEST1_000109"	"g.61726989A>G"	"5/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685040"	"0"	"90"	"11"	"61727010"	"61727010"	"subst"	"0"	"00004"	"BEST1_000111"	"g.61727010A>T"	"4/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685041"	"0"	"90"	"11"	"61730041"	"61730041"	"del"	"5.68593E-5"	"00004"	"BEST1_000056"	"g.61730041del"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	"c.1415delT"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685573"	"1"	"70"	"11"	"61727382"	"61727382"	"subst"	"0"	"00004"	"BEST1_000112"	"g.61727382G>A"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	"c.[404G>A;967C>A]"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000691104"	"0"	"50"	"11"	"61727429"	"61727430"	"delins"	"0"	"02327"	"BEST1_000113"	"g.61727429_61727430delinsCT"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000699302"	"0"	"50"	"11"	"61727478"	"61727478"	"subst"	"0.000154009"	"03779"	"BEST1_000114"	"g.61727478C>T"	""	""	""	""	""	"CLASSIFICATION record"	""	"rs139637557"	"0"	""	""	""	""	"VUS"	""
"0000710255"	"1"	"90"	"11"	"61725754"	"61725754"	"subst"	"0"	"00006"	"BEST1_000115"	"g.61725754A>G"	"1/143 cases"	"{PMID:Zenteno 2020:31736247}"	""	"NM_001139443.1:c.671A>G"	""	"Germline"	""	""	"0"	""	""	"g.61958282A>G"	""	"pathogenic"	""
"0000713529"	"3"	"90"	"11"	"61717900"	"61717900"	"subst"	"0"	"00000"	"BEST1_000116"	"g.61717900G>T"	""	"{PMID:Carss 2017:28041643}"	""	"11:61717900G>T ENST00000449131.2:c.-29+1G>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713591"	"3"	"90"	"11"	"61723224"	"61723235"	"del"	"0"	"00000"	"BEST1_000117"	"g.61723224_61723235del"	""	"{PMID:Carss 2017:28041643}"	""	"11:61723223GGAACCAGTACGA>G ENST00000449131.2:c.107_118delAGTACGAGAACC (Gln36_Asn39del)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713989"	"1"	"50"	"11"	"61727048"	"61727048"	"subst"	"0"	"00000"	"BEST1_000118"	"g.61727048C>A"	""	"{PMID:Zhou 2018:29453956}"	""	"946C>A (Gln316Lys)"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000713990"	"1"	"50"	"11"	"61730035"	"61730035"	"subst"	"1.62455E-5"	"00000"	"BEST1_000119"	"g.61730035C>T"	""	"{PMID:Zhou 2018:29453956}"	""	"1229C>T (Thr410Ile)"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000713991"	"1"	"50"	"11"	"61730605"	"61730605"	"subst"	"0"	"00000"	"BEST1_000120"	"g.61730605C>G"	""	"{PMID:Zhou 2018:29453956}"	""	"1799C>G (P600R)"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000723520"	"0"	"90"	"11"	"61719294"	"61719294"	"subst"	"0"	"01943"	"BEST1_000004"	"g.61719294A>C"	""	""	""	"BEST1(NM_004183.3):c.16A>C (p.T6P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000723521"	"0"	"90"	"11"	"61724901"	"61724901"	"subst"	"0"	"02330"	"BEST1_000022"	"g.61724901T>A"	""	""	""	"BEST1(NM_001139443.2):c.499T>A (p.Y167N), BEST1(NM_004183.3):c.679T>A (p.Y227N), BEST1(NM_004183.4):c.679T>A (p.(Tyr227Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000723522"	"0"	"70"	"11"	"61730285"	"61730285"	"dup"	"0"	"01943"	"BEST1_000129"	"g.61730285dup"	""	""	""	"BEST1(NM_004183.3):c.1659dupA (p.E554Rfs*29)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000730606"	"3"	"90"	"11"	"61727036"	"61727036"	"subst"	"4.87369E-5"	"00000"	"BEST1_000036"	"g.61727036G>A"	""	"{PMID:Birtel 2018:29555955}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61959564G>A"	""	"pathogenic (recessive)"	""
"0000730607"	"3"	"90"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Birtel 2018:29555955}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61955892G>A"	""	"pathogenic (recessive)"	""
"0000730608"	"3"	"90"	"11"	"61727371"	"61727371"	"subst"	"0"	"00000"	"BEST1_000128"	"g.61727371T>C"	""	"{PMID:Birtel 2018:29555955}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61959899T>C"	""	"pathogenic (recessive)"	""
"0000730609"	"1"	"90"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Birtel 2018:29555955}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61955892G>A"	""	"pathogenic (recessive)"	""
"0000730610"	"1"	"90"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Birtel 2018:29555955}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61956946C>T"	""	"pathogenic (recessive)"	""
"0000730657"	"1"	"90"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Birtel 2018:29555955}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61958159C>T"	""	"pathogenic (dominant)"	""
"0000730658"	"1"	"90"	"11"	"61719303"	"61719303"	"subst"	"0"	"00000"	"BEST1_000005"	"g.61719303G>A"	""	"{PMID:Birtel 2018:29555955}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61951831G>A"	""	"pathogenic (dominant)"	""
"0000730659"	"1"	"90"	"11"	"61719295"	"61719295"	"subst"	"0"	"00000"	"BEST1_000121"	"g.61719295C>T"	""	"{PMID:Birtel 2018:29555955}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61951823C>T"	""	"pathogenic (dominant)"	""
"0000730660"	"1"	"90"	"11"	"61723241"	"61723241"	"subst"	"0"	"00000"	"BEST1_000123"	"g.61723241T>G"	""	"{PMID:Birtel 2018:29555955}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61955769T>G"	""	"pathogenic (dominant)"	""
"0000730661"	"1"	"90"	"11"	"61724906"	"61724906"	"subst"	"4.06065E-6"	"00000"	"BEST1_000126"	"g.61724906C>G"	""	"{PMID:Birtel 2018:29555955}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61957434C>G"	""	"pathogenic (dominant)"	""
"0000730662"	"1"	"90"	"11"	"61727036"	"61727036"	"subst"	"4.87369E-5"	"00000"	"BEST1_000036"	"g.61727036G>A"	""	"{PMID:Birtel 2018:29555955}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61959564G>A"	""	"pathogenic (dominant)"	""
"0000730663"	"1"	"90"	"11"	"61727005"	"61727005"	"subst"	"0"	"00000"	"BEST1_000127"	"g.61727005T>G"	""	"{PMID:Birtel 2018:29555955}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61959533T>G"	""	"pathogenic (dominant)"	""
"0000730664"	"1"	"90"	"11"	"61719340"	"61719340"	"subst"	"0"	"00000"	"BEST1_000122"	"g.61719340T>G"	""	"{PMID:Birtel 2018:29555955}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61951868T>G"	""	"pathogenic (dominant)"	""
"0000730665"	"1"	"90"	"11"	"61727036"	"61727036"	"subst"	"4.87369E-5"	"00000"	"BEST1_000036"	"g.61727036G>A"	""	"{PMID:Birtel 2018:29555955}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61959564G>A"	""	"pathogenic (dominant)"	""
"0000730666"	"1"	"90"	"11"	"61723370"	"61723370"	"subst"	"0"	"00000"	"BEST1_000124"	"g.61723370T>C"	""	"{PMID:Birtel 2018:29555955}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61955898T>C"	""	"pathogenic (dominant)"	""
"0000730667"	"1"	"90"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Birtel 2018:29555955}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61957402C>T"	""	"pathogenic (dominant)"	""
"0000730668"	"1"	"90"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Birtel 2018:29555955}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61958159C>T"	""	"pathogenic (dominant)"	""
"0000730669"	"1"	"90"	"11"	"61719315"	"61719315"	"subst"	"0"	"00000"	"BEST1_000006"	"g.61719315C>T"	""	"{PMID:Birtel 2018:29555955}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61951843C>T"	""	"pathogenic (dominant)"	""
"0000730670"	"1"	"90"	"11"	"61724893"	"61724893"	"subst"	"0"	"00000"	"BEST1_000095"	"g.61724893T>C"	""	"{PMID:Birtel 2018:29555955}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61957421T>C"	""	"pathogenic (dominant)"	""
"0000730788"	"2"	"90"	"11"	"61727036"	"61727036"	"subst"	"4.87369E-5"	"00000"	"BEST1_000036"	"g.61727036G>A"	""	"{PMID:Birtel 2018:29555955}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61959564G>A"	""	"pathogenic (recessive)"	""
"0000730789"	"2"	"90"	"11"	"61724471"	"61724471"	"subst"	"0"	"00000"	"BEST1_000125"	"g.61724471G>A"	""	"{PMID:Birtel 2018:29555955}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61956999G>A"	""	"pathogenic (recessive)"	""
"0000731491"	"1"	"70"	"11"	"61723244"	"61723244"	"subst"	"0"	"00000"	"BEST1_000130"	"g.61723244C>T"	""	"{PMID:Avela 2018:29068140}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61955772C>T"	""	"likely pathogenic (recessive)"	""
"0000731515"	"1"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Avela 2018:29068140}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic (recessive)"	""
"0000732709"	"0"	"70"	"11"	"61727452"	"61727452"	"subst"	"5.35257E-5"	"00006"	"BEST1_000064"	"g.61727452C>A"	""	"{PMID:Li 2017:28677725}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000732915"	"0"	"70"	"11"	"61724901"	"61724901"	"subst"	"0"	"00000"	"BEST1_000022"	"g.61724901T>A"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61957429T>A"	""	"likely pathogenic"	""
"0000732916"	"0"	"70"	"11"	"61724901"	"61724901"	"subst"	"0"	"00000"	"BEST1_000022"	"g.61724901T>A"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61957429T>A"	""	"likely pathogenic"	""
"0000732917"	"0"	"70"	"11"	"61724901"	"61724901"	"subst"	"0"	"00000"	"BEST1_000022"	"g.61724901T>A"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61957429T>A"	""	"likely pathogenic"	""
"0000732918"	"0"	"70"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61957403G>A"	""	"likely pathogenic"	""
"0000732919"	"0"	"70"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61957403G>A"	""	"likely pathogenic"	""
"0000732920"	"0"	"70"	"11"	"61724906"	"61724906"	"subst"	"4.06065E-6"	"00000"	"BEST1_000126"	"g.61724906C>G"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61957434C>G"	""	"likely pathogenic"	""
"0000732921"	"0"	"70"	"11"	"61719367"	"61719367"	"subst"	"4.06918E-6"	"00000"	"BEST1_000099"	"g.61719367A>G"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61951895A>G"	""	"likely pathogenic"	""
"0000732922"	"0"	"70"	"11"	"61719367"	"61719367"	"subst"	"4.06918E-6"	"00000"	"BEST1_000099"	"g.61719367A>G"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61951895A>G"	""	"likely pathogenic"	""
"0000732923"	"0"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61958159C>T"	""	"likely pathogenic"	""
"0000732924"	"0"	"70"	"11"	"61723341"	"61723341"	"subst"	"0"	"00000"	"BEST1_000135"	"g.61723341C>G"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61955869C>G"	""	"likely pathogenic"	""
"0000732925"	"0"	"70"	"11"	"61727007"	"61727007"	"subst"	"0"	"00000"	"BEST1_000033"	"g.61727007A>C"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61959535A>C"	""	"likely pathogenic"	""
"0000732926"	"0"	"70"	"11"	"61723228"	"61723228"	"subst"	"7.18515E-6"	"00000"	"BEST1_000133"	"g.61723228C>G"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61955756C>G"	""	"likely pathogenic"	""
"0000732927"	"0"	"70"	"11"	"61727002"	"61727002"	"subst"	"4.06091E-6"	"00000"	"BEST1_000143"	"g.61727002G>C"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61959530G>C"	""	"likely pathogenic"	""
"0000732928"	"0"	"70"	"11"	"61727000"	"61727000"	"subst"	"0"	"00000"	"BEST1_000142"	"g.61727000G>A"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61959528G>A"	""	"likely pathogenic"	""
"0000732929"	"0"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	""	"{PMID:Stone 2017:28559085}"	""	"881_883delTCA"	""	"Germline"	""	""	"0"	""	""	"g.61959514_61959516del"	""	"likely pathogenic"	""
"0000732930"	"0"	"70"	"11"	"61723244"	"61723244"	"subst"	"0"	"00000"	"BEST1_000130"	"g.61723244C>T"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61955772C>T"	""	"likely pathogenic"	""
"0000732931"	"0"	"70"	"11"	"61725625"	"61725625"	"subst"	"0"	"00000"	"BEST1_000137"	"g.61725625C>A"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61958153C>A"	""	"likely pathogenic"	""
"0000732932"	"0"	"70"	"11"	"61724902"	"61724902"	"subst"	"0"	"00000"	"BEST1_000136"	"g.61724902A>G"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61957430A>G"	""	"likely pathogenic"	""
"0000733346"	"1"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic"	""
"0000733498"	"1"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic"	""
"0000733499"	"1"	"70"	"11"	"61724906"	"61724906"	"subst"	"4.06065E-6"	"00000"	"BEST1_000126"	"g.61724906C>G"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61957434C>G"	""	"likely pathogenic"	""
"0000733500"	"1"	"70"	"11"	"61725682"	"61725682"	"del"	"0"	"00000"	"BEST1_000139"	"g.61725682del"	""	"{PMID:Stone 2017:28559085}"	""	"777delC"	""	"Germline"	""	""	"0"	""	""	"g.61958210del"	""	"likely pathogenic"	""
"0000733501"	"1"	"70"	"11"	"61719381"	"61719381"	"subst"	"0"	"00000"	"BEST1_000132"	"g.61719381G>A"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61951909G>A"	""	"likely pathogenic"	""
"0000733502"	"3"	"70"	"11"	"61724887"	"61724887"	"subst"	"0"	"00000"	"BEST1_000106"	"g.61724887G>T"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61957415G>T"	""	"likely pathogenic"	""
"0000733503"	"1"	"70"	"11"	"61719380"	"61719380"	"subst"	"1.62715E-5"	"00000"	"BEST1_000131"	"g.61719380C>T"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61951908C>T"	""	"likely pathogenic"	""
"0000733724"	"2"	"70"	"11"	"61727481"	"61727481"	"subst"	"4.16691E-6"	"00000"	"BEST1_000144"	"g.61727481C>T"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61960009C>T"	""	"likely pathogenic"	""
"0000733872"	"2"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic"	""
"0000733873"	"2"	"70"	"11"	"61725680"	"61725681"	"ins"	"0"	"00000"	"BEST1_000138"	"g.61725680_61725681insAA"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61958208_61958209insAA"	""	"likely pathogenic"	""
"0000733874"	"2"	"70"	"11"	"61729746"	"61729746"	"dup"	"0"	"00000"	"BEST1_000145"	"g.61729746dup"	""	"{PMID:Stone 2017:28559085}"	""	"1118_1119insG"	""	"Germline"	""	""	"0"	""	""	"g.61962274dup"	""	"likely pathogenic"	""
"0000733875"	"2"	"70"	"11"	"61725682"	"61725682"	"del"	"0"	"00000"	"BEST1_000139"	"g.61725682del"	""	"{PMID:Stone 2017:28559085}"	""	"777delC"	""	"Germline"	""	""	"0"	""	""	"g.61958210del"	""	"likely pathogenic"	""
"0000733876"	"2"	"70"	"11"	"61726985"	"61726985"	"subst"	"0"	"00000"	"BEST1_000140"	"g.61726985A>C"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61959513A>C"	""	"likely pathogenic"	""
"0000734333"	"3"	"70"	"11"	"61723304"	"61723304"	"subst"	"2.10793E-5"	"00000"	"BEST1_000134"	"g.61723304G>C"	""	"{PMID:Huang 2017:28512305}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.61955832G>C"	""	"likely pathogenic"	""
"0000734711"	"0"	"50"	"11"	"61724458"	"61724458"	"subst"	"0.00139435"	"00000"	"BEST1_000047"	"g.61724458G>A"	""	"{PMID:Vincent 2017:28488341}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61956986G>A"	""	"VUS"	""
"0000735182"	"3"	"50"	"11"	"61730259"	"61730259"	"subst"	"0"	"00000"	"BEST1_000149"	"g.61730259C>A"	""	"{PMID:Maranha 2015:26352687}, {DOI:Maranhao 2015:10.1371/journal.pone.0136561}"	""	""	""	"Germline"	""	"rs566374710"	"0"	""	""	"g.61962787C>A"	""	"VUS"	""
"0000735593"	"0"	"90"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Haer-Wigman 2017:28224992}"	""	"NM_001139443.1:404C>T (Ala135Val)"	""	"Germline"	""	""	"0"	""	""	"g.61956946C>T"	""	"pathogenic"	""
"0000735594"	"0"	"90"	"11"	"61726991"	"61726991"	"subst"	"4.06105E-6"	"00000"	"BEST1_000030"	"g.61726991C>T"	""	"{PMID:Haer-Wigman 2017:28224992}"	""	"NM_001139443.1:709C>T (Pro237Ser)"	""	"Germline"	""	""	"0"	""	""	"g.61959519C>T"	""	"pathogenic"	""
"0000735836"	"3"	"70"	"11"	"61725702"	"61725702"	"del"	"0"	"00000"	"BEST1_000148"	"g.61725702del"	""	"{PMID:Riera 2017:28181551}"	""	"798del"	""	"Germline"	"yes"	""	"0"	""	""	"g.61958230del"	""	"likely pathogenic"	""
"0000736101"	"0"	"70"	"11"	"61727485"	"61727485"	"subst"	"0.0013356"	"00000"	"BEST1_000065"	"g.61727485C>T"	""	"{PMID:Huang 2018:29641573}"	""	"NM_001300787.1:c.890C>T (Ala297Val)"	""	"Germline"	""	""	"0"	""	""	"g.61960013C>T"	""	"likely pathogenic"	""
"0000736162"	"1"	"90"	"11"	"61724892"	"61724892"	"subst"	"0"	"00006"	"BEST1_000146"	"g.61724892C>A"	""	"{PMID:Todorova 2017:28147405}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000736163"	"1"	"90"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00006"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Todorova 2017:28147405}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000736164"	"2"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00006"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Todorova 2017:28147405}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000736193"	"1"	"90"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:Bernardis 2016:28127548}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61951879C>T"	""	"pathogenic"	""
"0000736194"	"1"	"90"	"11"	"61719358"	"61719358"	"subst"	"0"	"00000"	"BEST1_000147"	"g.61719358G>C"	""	"{PMID:Bernardis 2016:28127548}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61951886G>C"	""	"pathogenic"	""
"0000736195"	"1"	"90"	"11"	"61719358"	"61719358"	"subst"	"0"	"00000"	"BEST1_000147"	"g.61719358G>C"	""	"{PMID:Bernardis 2016:28127548}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61951886G>C"	""	"pathogenic"	""
"0000736196"	"1"	"90"	"11"	"61719358"	"61719358"	"subst"	"0"	"00000"	"BEST1_000147"	"g.61719358G>C"	""	"{PMID:Bernardis 2016:28127548}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61951886G>C"	""	"pathogenic"	""
"0000736519"	"1"	"90"	"11"	"61723221"	"61723221"	"subst"	"0"	"00000"	"BEST1_000012"	"g.61723221G>C"	""	"{PMID:Zolnikova 2017:27939946}"	""	""	""	"Germline"	""	"rs28940273"	"0"	""	""	"g.61955749G>C"	""	"pathogenic"	""
"0000736558"	"2"	"90"	"11"	"61723221"	"61723221"	"subst"	"0"	"00000"	"BEST1_000012"	"g.61723221G>C"	""	"{PMID:Zolnikova 2017:27939946}"	""	""	""	"Germline"	""	"rs28940273"	"0"	""	""	"g.61955749G>C"	""	"pathogenic"	""
"0000736630"	"1"	"70"	"11"	"61723274"	"61723274"	"subst"	"0"	"00000"	"BEST1_000150"	"g.61723274C>T"	""	"{PMID:Ramkumar 2017:28005406}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61955802C>T"	""	"likely pathogenic"	""
"0000736631"	"1"	"70"	"11"	"61727416"	"61727416"	"subst"	"0"	"00000"	"BEST1_000152"	"g.61727416C>G"	""	"{PMID:Ramkumar 2017:28005406}"	""	"824C>G (Pro274Arg)"	""	"Germline"	""	"rs148326372"	"0"	""	""	"g.61959944C>G"	""	"likely pathogenic"	""
"0000759577"	"1"	"90"	"11"	"61723363"	"61723363"	"subst"	"0"	"00000"	"BEST1_000151"	"g.61723363C>A"	""	"{PMID:Carrigan 2016:27624628}"	""	"NM_001139443.1:c.241C>A"	""	"Germline"	""	""	"0"	""	""	"g.61955891C>A"	""	"pathogenic"	""
"0000759613"	"2"	"90"	"11"	"61724436"	"61724436"	"subst"	"6.50042E-5"	"00000"	"BEST1_000212"	"g.61724436T>C"	""	"{PMID:Carrigan 2016:27624628}"	""	"NM_001139443.1:Ile141Thr"	""	"Germline"	""	""	"0"	""	""	"g.61956964T>C"	""	"pathogenic"	""
"0000759891"	"3"	"90"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Tiwari 2016:27391102}"	""	"NM_001139443.1:c.242G>A"	""	"Germline"	""	""	"0"	""	""	"g.61955892G>A"	""	"pathogenic (recessive)"	""
"0000759935"	"3"	"90"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Tiwari 2016:27353947}"	""	"NM_001139443.1:c.404C>T"	""	"Germline"	""	""	"0"	""	""	"g.61956946C>T"	""	"pathogenic (recessive)"	""
"0000759936"	"1"	"90"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Tiwari 2016:27353947}"	""	"NM_001139443.1:c.548C>T"	""	"Germline"	""	""	"0"	""	""	"g.61958159C>T"	""	"pathogenic (recessive)"	""
"0000760051"	"0"	"50"	"11"	"61727452"	"61727452"	"subst"	"5.35257E-5"	"00000"	"BEST1_000064"	"g.61727452C>A"	""	"{PMID:Tiwari 2016:27353947}"	""	"NM_001139443.1:c.857C>A"	""	"Germline"	""	""	"0"	""	""	"g.61959980C>A"	""	"VUS"	""
"0000760336"	"0"	"70"	"11"	"61725751"	"61725753"	"del"	"0"	"00000"	"BEST1_000053"	"g.61725751_61725753del"	""	"{PMID:Ellingford 2016:27208204}"	""	"848_850delTTC"	""	"Germline"	""	""	"0"	""	""	"g.61958279_61958281del"	""	"likely pathogenic"	""
"0000760356"	"0"	"70"	"11"	"61726979"	"61726979"	"subst"	"0"	"00000"	"BEST1_000029"	"g.61726979C>A"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61959507C>A"	""	"likely pathogenic"	""
"0000760367"	"0"	"70"	"11"	"61723244"	"61723244"	"subst"	"0"	"00000"	"BEST1_000130"	"g.61723244C>T"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61955772C>T"	""	"likely pathogenic"	""
"0000760510"	"0"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic"	""
"0000760727"	"1"	"30"	"11"	"0"	"0"	""	"0"	"00008"	"BEST1_000000"	"g.?"	"1/11 cases"	"{PMID:Zhuk 2006:16885924}"	""	"23C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000760728"	"3"	"30"	"11"	"61719387"	"61719387"	"subst"	"0.486784"	"00008"	"BEST1_000003"	"g.61719387T>C"	"-72.70%"	"{PMID:Zhuk 2006:16885924}"	""	"VMD2:c.213T>C (L37L) / rs1800007"	""	"Germline"	""	"rs1800007"	"0"	""	""	""	""	"likely benign"	""
"0000760729"	"1"	"30"	"11"	"61722639"	"61722639"	"subst"	"0.000633508"	"00008"	"BEST1_000153"	"g.61722639C>T"	"-9.09%"	"{PMID:Zhuk 2006:16885924}"	""	"VMD2:c.317C>T (S71S)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000760730"	"1"	"30"	"11"	"61722645"	"61722645"	"subst"	"0.204598"	"00008"	"BEST1_000010"	"g.61722645C>A"	"-9.09%"	"{PMID:Zhuk 2006:16885924}"	""	"VMD2:c.323C>A (I73I) / rs1109748"	""	"Germline"	""	"rs1109748"	"0"	""	""	""	""	"likely benign"	""
"0000760731"	"1"	"30"	"11"	"61724292"	"61724292"	"subst"	"0.403953"	"00008"	"BEST1_000046"	"g.61724292C>T"	"-54.50%"	"{PMID:Zhuk 2006:16885924}"	""	"VMD2:c.586-24C>T (None) / rs760306"	""	"Germline"	""	"rs760306"	"0"	""	""	""	""	"likely benign"	""
"0000760732"	"1"	"30"	"11"	"61725671"	"61725671"	"subst"	"0"	"00008"	"BEST1_000154"	"g.61725671C>T"	"-36.30%"	"{PMID:Zhuk 2006:16885924}"	""	"VMD2:c.740+28C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000760733"	"3"	"30"	"11"	"61725599"	"61725599"	"delins"	"0"	"00008"	"BEST1_000445"	"g.61725599delinsCTCCTCCTCC"	"1/11 cases"	"{PMID:Zhuk 2006:16885924}"	""	"c.819[-19C>A]+[-19_-18ins(TCC)3] (None) / rs1805182"	""	"Germline"	""	"rs1805182"	"0"	""	""	"g.61958127delinsCTCCTCCTCC"	""	"likely benign"	""
"0000760734"	"1"	"30"	"11"	"61727546"	"61727546"	"subst"	"0"	"00008"	"BEST1_000155"	"g.61727546G>A"	"-9.09%"	"{PMID:Zhuk 2006:16885924}"	""	"VMD2:c.1052+79G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000760735"	"1"	"30"	"11"	"61727438"	"61727438"	"subst"	"0.0221466"	"00008"	"BEST1_000038"	"g.61727438C>T"	"-9.09%"	"{PMID:Zhuk 2006:16885924}"	""	"VMD2:c.1127C>T (P341P) / rs1801390"	""	"Germline"	""	"rs1801390"	"0"	""	""	""	""	"likely benign"	""
"0000760736"	"3"	"30"	"11"	"61730036"	"61730036"	"subst"	"0.227228"	"00008"	"BEST1_000039"	"g.61730036G>A"	"-90.90%"	"{PMID:Zhuk 2006:16885924}"	""	"VMD2:c.1514G>A (T470T)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000760737"	"1"	"30"	"11"	"61730183"	"61730183"	"subst"	"0.175846"	"00008"	"BEST1_000040"	"g.61730183C>T"	"-45.50%"	"{PMID:Zhuk 2006:16885924}"	""	"VMD2:c.1661C>T (S519S)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000760738"	"3"	"30"	"11"	"61730234"	"61730234"	"subst"	"0.459148"	"00008"	"BEST1_000041"	"g.61730234T>C"	"-63.60%"	"{PMID:Zhuk 2006:16885924}"	""	"VMD2:c.1712T>C (T536T)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000760740"	"1"	"30"	"11"	"61719387"	"61719387"	"subst"	"0.486784"	"00008"	"BEST1_000003"	"g.61719387T>C"	"-72.70%"	"{PMID:Zhuk 2006:16885924}"	""	"VMD2:c.213T>C (L37L) / rs1800007"	""	"Germline"	""	"rs1800007"	"0"	""	""	""	""	"likely benign"	""
"0000760741"	"1"	"30"	"11"	"61730036"	"61730036"	"subst"	"0.227228"	"00008"	"BEST1_000039"	"g.61730036G>A"	"-90.90%"	"{PMID:Zhuk 2006:16885924}"	""	"VMD2:c.1514G>A (T470T)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000760742"	"1"	"30"	"11"	"61730234"	"61730234"	"subst"	"0.459148"	"00008"	"BEST1_000041"	"g.61730234T>C"	"-63.60%"	"{PMID:Zhuk 2006:16885924}"	""	"VMD2:c.1712T>C (T536T)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000764610"	"1"	"70"	"11"	"61719364"	"61719364"	"subst"	"0"	"00008"	"BEST1_000156"	"g.61719364A>G"	""	"{PMID:Downs 2007:17296903}"	""	"VMD2: 174A>G (Y29C)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000764611"	"1"	"70"	"11"	"61724406"	"61724406"	"subst"	"4.06095E-6"	"00008"	"BEST1_000157"	"g.61724406T>C"	""	"{PMID:Downs 2007:17296903}"	""	"VMD2: 660T>C (L191P)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000764612"	"1"	"70"	"11"	"61724873"	"61724873"	"subst"	"0"	"00008"	"BEST1_000158"	"g.61724873G>T"	""	"{PMID:Downs 2007:17296903}"	""	"VMD2: 738G>T (L217F)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000764613"	"1"	"70"	"11"	"61725763"	"61725763"	"subst"	"1.21838E-5"	"00008"	"BEST1_000054"	"g.61725763G>A"	""	"{PMID:Downs 2007:17296903}"	""	"VMD2: 948G>A (W287X)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000764614"	"1"	"70"	"11"	"61726988"	"61726988"	"subst"	"0"	"00008"	"BEST1_000159"	"g.61726988A>G"	""	"{PMID:Downs 2007:17296903}"	""	"VMD2: 974A>G (N296D)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000764883"	"1"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Weisschuh 2016:26766544}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic (dominant)"	""
"0000764885"	"1"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Weisschuh 2016:26766544}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61958159C>T"	""	"likely pathogenic (dominant)"	""
"0000765452"	"1"	"70"	"11"	"61726970"	"61726970"	"subst"	"0"	"00000"	"BEST1_000164"	"g.61726970G>A"	"1/596 chromosomes"	"{PMID:Sun 2015:26747767}"	""	""	"not in 624 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.61959498G>A"	""	"likely pathogenic"	""
"0000765768"	"0"	"70"	"11"	"61725751"	"61725753"	"del"	"0"	"00000"	"BEST1_000053"	"g.61725751_61725753del"	""	"{PMID:Patel 2016:26355662}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61958279_61958281del"	""	"likely pathogenic"	""
"0000765942"	"0"	"70"	"11"	"61722631"	"61722631"	"subst"	"0"	"00000"	"BEST1_000160"	"g.61722631T>C"	""	"{PMID:Huang 2015:26310487}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61955159T>C"	""	"likely pathogenic"	""
"0000765943"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000162"	"g.61724874C>A"	""	"{PMID:Huang 2015:26310487}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61957402C>A"	""	"likely pathogenic"	""
"0000765944"	"0"	"70"	"11"	"61724920"	"61724920"	"subst"	"0"	"00000"	"BEST1_000163"	"g.61724920C>T"	""	"{PMID:Huang 2015:26310487}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61957448C>T"	""	"likely pathogenic"	""
"0000765945"	"0"	"70"	"11"	"61725666"	"61725666"	"subst"	"5.27893E-5"	"00000"	"BEST1_000063"	"g.61725666C>T"	""	"{PMID:Huang 2015:26310487}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61958194C>T"	""	"likely pathogenic"	""
"0000765946"	"0"	"70"	"11"	"61727012"	"61727014"	"del"	"0"	"00000"	"BEST1_000034"	"g.61727012_61727014del"	""	"{PMID:Huang 2015:26310487}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61959540_61959542del"	""	"likely pathogenic"	""
"0000765947"	"0"	"70"	"11"	"61723378"	"61723378"	"subst"	"0"	"00000"	"BEST1_000161"	"g.61723378G>T"	""	"{PMID:Huang 2015:26310487}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61955906G>T"	""	"likely pathogenic"	""
"0000765948"	"0"	"70"	"11"	"61725666"	"61725666"	"subst"	"5.27893E-5"	"00000"	"BEST1_000063"	"g.61725666C>T"	""	"{PMID:Huang 2015:26310487}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61958194C>T"	""	"likely pathogenic"	""
"0000784427"	"0"	"50"	"11"	"61729795"	"61729795"	"subst"	"5.27996E-5"	"00000"	"BEST1_000166"	"g.61729795T>C"	"1/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61962323T>C"	""	"VUS"	""
"0000784439"	"0"	"50"	"11"	"61727485"	"61727485"	"subst"	"0.0013356"	"00000"	"BEST1_000065"	"g.61727485C>T"	"2/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	"rs17854138"	"0"	""	""	"g.61960013C>T"	""	"VUS"	""
"0000784493"	"0"	"50"	"11"	"61727485"	"61727485"	"subst"	"0.0013356"	"00000"	"BEST1_000065"	"g.61727485C>T"	"2/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	"rs17854138"	"0"	""	""	"g.61960013C>T"	""	"VUS"	""
"0000784495"	"0"	"50"	"11"	"0"	"0"	""	"0"	"00000"	"BEST1_000000"	"g.?"	"1/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	"1060C>T (F354W)"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000785381"	"1"	"90"	"11"	"61724904"	"61724904"	"subst"	"0"	"00000"	"BEST1_000023"	"g.61724904G>C"	""	"{PMID:Van Huet 2015:25999674}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61957432G>C"	""	"pathogenic (dominant)"	""
"0000785536"	"0"	"50"	"11"	"61727478"	"61727478"	"subst"	"0.000154009"	"00000"	"BEST1_000114"	"g.61727478C>T"	""	"{PMID:Fernandez-San Jose 2015:25698705}"	""	""	""	"Germline"	""	"rs139637557"	"0"	""	""	"g.61960006C>T"	""	"VUS"	""
"0000785599"	"3"	"90"	"11"	"61725733"	"61725733"	"subst"	"8.1215E-6"	"00000"	"BEST1_000165"	"g.61725733C>T"	""	"{PMID:Zaneveld 2015:25474345}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61958261C>T"	""	"pathogenic (recessive)"	""
"0000786397"	"1"	"90"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Consugar 2015:25412400}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.61957403G>A"	""	"pathogenic (dominant)"	""
"0000786398"	"1"	"90"	"11"	"61719367"	"61719367"	"subst"	"4.06918E-6"	"00000"	"BEST1_000099"	"g.61719367A>G"	""	"{PMID:Consugar 2015:25412400}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61951895A>G"	""	"pathogenic (dominant)"	""
"0000786430"	"1"	"90"	"11"	"61719350"	"61719350"	"subst"	"4.07628E-6"	"00000"	"BEST1_000167"	"g.61719350G>A"	""	"{PMID:Consugar 2015:25412400}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.61951878G>A"	""	"pathogenic (recessive)"	""
"0000786486"	"2"	"90"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Consugar 2015:25412400}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.61956946C>T"	""	"pathogenic (recessive)"	""
"0000788132"	"1"	"70"	"11"	"61725666"	"61725666"	"subst"	"5.27893E-5"	"00000"	"BEST1_000063"	"g.61725666C>T"	""	"{PMID:Oishi 2014:25324289}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61958194C>T"	""	"likely pathogenic"	""
"0000788442"	"0"	"50"	"11"	"61727452"	"61727452"	"subst"	"5.35257E-5"	"00000"	"BEST1_000064"	"g.61727452C>A"	""	"{PMID:Katagiri 2014:25268133}"	""	"C1037A"	""	"Germline"	""	""	"0"	""	""	"g.61959980C>A"	""	"VUS"	""
"0000788571"	"1"	"50"	"11"	"61719306"	"61719306"	"subst"	"0"	"00000"	"BEST1_000168"	"g.61719306G>A"	""	"{PMID:Alapati 2014:25082885}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61951834G>A"	""	"VUS"	""
"0000788572"	"1"	"50"	"11"	"61719325"	"61719325"	"subst"	"0"	"00000"	"BEST1_000169"	"g.61719325C>T"	""	"{PMID:Alapati 2014:25082885}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61951853C>T"	""	"VUS"	""
"0000788573"	"1"	"50"	"11"	"61719350"	"61719350"	"subst"	"0"	"00000"	"BEST1_000170"	"g.61719350G>T"	""	"{PMID:Alapati 2014:25082885}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61951878G>T"	""	"VUS"	""
"0000788574"	"1"	"50"	"11"	"61722666"	"61722666"	"subst"	"0"	"00000"	"BEST1_000171"	"g.61722666C>A"	""	"{PMID:Alapati 2014:25082885}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61955194C>A"	""	"VUS"	""
"0000788575"	"1"	"50"	"11"	"61722666"	"61722666"	"subst"	"0"	"00000"	"BEST1_000171"	"g.61722666C>A"	""	"{PMID:Alapati 2014:25082885}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61955194C>A"	""	"VUS"	""
"0000788576"	"1"	"50"	"11"	"61723190"	"61723190"	"subst"	"0"	"00000"	"BEST1_000172"	"g.61723190G>C"	""	"{PMID:Alapati 2014:25082885}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61955718G>C"	""	"VUS"	""
"0000788577"	"1"	"50"	"11"	"61723219"	"61723219"	"subst"	"0"	"00000"	"BEST1_000174"	"g.61723219T>C"	""	"{PMID:Alapati 2014:25082885}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61955747T>C"	""	"VUS"	""
"0000788578"	"1"	"50"	"11"	"61723221"	"61723221"	"subst"	"0"	"00000"	"BEST1_000012"	"g.61723221G>C"	""	"{PMID:Alapati 2014:25082885}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61955749G>C"	""	"VUS"	""
"0000788579"	"1"	"50"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Alapati 2014:25082885}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61957402C>T"	""	"VUS"	""
"0000788580"	"1"	"50"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Alapati 2014:25082885}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61957402C>T"	""	"VUS"	""
"0000788581"	"1"	"50"	"11"	"61724902"	"61724902"	"subst"	"0"	"00000"	"BEST1_000136"	"g.61724902A>G"	""	"{PMID:Alapati 2014:25082885}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61957430A>G"	""	"VUS"	""
"0000788582"	"1"	"50"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Alapati 2014:25082885}"	""	"741G>A (Arg218His)"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000788583"	"1"	"50"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Alapati 2014:25082885}"	""	"741G>A (Arg218His)"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000788584"	"1"	"50"	"11"	"61725630"	"61725630"	"subst"	"0"	"00000"	"BEST1_000175"	"g.61725630G>A"	""	"{PMID:Alapati 2014:25082885}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61958158G>A"	""	"VUS"	""
"0000788585"	"1"	"50"	"11"	"61725630"	"61725630"	"subst"	"0"	"00000"	"BEST1_000175"	"g.61725630G>A"	""	"{PMID:Alapati 2014:25082885}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61958158G>A"	""	"VUS"	""
"0000788586"	"1"	"50"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Alapati 2014:25082885}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61958159C>T"	""	"VUS"	""
"0000788587"	"1"	"50"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Alapati 2014:25082885}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61958159C>T"	""	"VUS"	""
"0000788588"	"1"	"50"	"11"	"61726982"	"61726982"	"subst"	"0"	"00000"	"BEST1_000176"	"g.61726982C>T"	""	"{PMID:Alapati 2014:25082885}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61959510C>T"	""	"VUS"	""
"0000788589"	"1"	"50"	"11"	"61726989"	"61726989"	"subst"	"0"	"00000"	"BEST1_000109"	"g.61726989A>G"	""	"{PMID:Alapati 2014:25082885}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61959517A>G"	""	"VUS"	""
"0000788590"	"1"	"50"	"11"	"61727005"	"61727005"	"subst"	"0"	"00000"	"BEST1_000127"	"g.61727005T>G"	""	"{PMID:Alapati 2014:25082885}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61959533T>G"	""	"VUS"	""
"0000788591"	"1"	"50"	"11"	"61727005"	"61727005"	"subst"	"0"	"00000"	"BEST1_000127"	"g.61727005T>G"	""	"{PMID:Alapati 2014:25082885}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61959533T>G"	""	"VUS"	""
"0000788592"	"1"	"50"	"11"	"61727012"	"61727012"	"subst"	"0"	"00000"	"BEST1_000177"	"g.61727012G>A"	""	"{PMID:Alapati 2014:25082885}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61959540G>A"	""	"VUS"	""
"0000788593"	"1"	"50"	"11"	"61727027"	"61727027"	"subst"	"0"	"00000"	"BEST1_000178"	"g.61727027T>C"	""	"{PMID:Alapati 2014:25082885}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61959555T>C"	""	"VUS"	""
"0000788594"	"1"	"50"	"11"	"61727031"	"61727031"	"subst"	"0"	"00000"	"BEST1_000035"	"g.61727031T>C"	""	"{PMID:Alapati 2014:25082885}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61959559T>C"	""	"VUS"	""
"0000788595"	"1"	"50"	"11"	"61723192"	"61723192"	"subst"	"0"	"00000"	"BEST1_000173"	"g.61723192T>G"	""	"{PMID:Alapati 2014:25082885}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61955720T>G"	""	"VUS"	""
"0000790486"	"1"	"50"	"11"	"61724949"	"61724949"	"subst"	"0.000312777"	"00000"	"BEST1_000180"	"g.61724949C>T"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61957477C>T"	""	"VUS"	""
"0000790548"	"0"	"50"	"11"	"61724453"	"61724453"	"subst"	"0.00366987"	"00000"	"BEST1_000179"	"g.61724453C>A"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	"rs74653691"	"0"	""	""	"g.61956981C>A"	""	"VUS"	""
"0000790661"	"0"	"50"	"11"	"61730100"	"61730100"	"subst"	"0.00201842"	"00000"	"BEST1_000057"	"g.61730100G>A"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	"rs111326315"	"0"	""	""	"g.61962628G>A"	""	"VUS"	""
"0000791192"	"1"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	"0 (in-house database, ~5000 samples)"	"Tracewska 2021, MolVis in press"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	"ACMG"
"0000791193"	"1"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	"0 (in-house database, ~5000 samples)"	"Tracewska 2021, MolVis in press"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	"ACMG"
"0000791421"	"0"	"70"	"11"	"61724904"	"61724904"	"subst"	"4.06072E-6"	"00000"	"BEST1_000060"	"g.61724904G>A"	"2/258"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.61957432G>A"	""	"likely pathogenic"	""
"0000791422"	"0"	"70"	"11"	"61724904"	"61724904"	"subst"	"4.06072E-6"	"00000"	"BEST1_000060"	"g.61724904G>A"	"2/258"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.61957432G>A"	""	"likely pathogenic"	""
"0000791593"	"11"	"70"	"11"	"61724904"	"61724904"	"subst"	"0"	"00000"	"BEST1_000181"	"g.61724904G>T"	""	"{PMID:Hosono 2018:29844330}"	""	"c.682G>T"	"heterozygous, causative variant"	"Germline"	"yes"	""	"0"	""	""	"g.61957432G>T"	""	"likely pathogenic"	"ACMG"
"0000792115"	"3"	"90"	"11"	"61724370"	"61724372"	"del"	"0"	"00000"	"BEST1_000334"	"g.61724370_61724372del"	""	"{PMID:Meunier 2011:21269699}"	""	"p.179delN"	""	"Germline"	""	""	"0"	""	""	"g.61956898_61956900del"	""	"pathogenic"	""
"0000792116"	"3"	"90"	"11"	"61723330"	"61723330"	"subst"	"2.09702E-5"	"00000"	"BEST1_000189"	"g.61723330C>A"	""	"{PMID:Meunier 2011:21269699}"	""	"p.R130S"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792117"	"0"	"90"	"11"	"61723243"	"61723243"	"subst"	"0"	"00000"	"BEST1_000187"	"g.61723243C>A"	""	"{PMID:Meunier 2011:21269699}"	""	"p.P101T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792118"	"0"	"90"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Meunier 2011:21269699}"	""	"p.R218H"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792119"	"0"	"90"	"11"	"61726986"	"61726986"	"subst"	"0"	"00000"	"BEST1_000191"	"g.61726986T>C"	""	"{PMID:Meunier 2011:21269699}"	""	"p.I295T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792120"	"0"	"90"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Meunier 2011:21269699}"	""	"p.R218H"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792121"	"0"	"70"	"11"	"61722664"	"61722664"	"subst"	"0"	"00000"	"BEST1_000185"	"g.61722664T>G"	""	"{PMID:Meunier 2011:21269699}"	""	"p.F80V"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000792122"	"0"	"90"	"11"	"61726982"	"61726982"	"subst"	"0"	"00000"	"BEST1_000190"	"g.61726982C>G"	""	"{PMID:Meunier 2011:21269699}"	""	"p.L294V"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792123"	"0"	"90"	"11"	"61726986"	"61726986"	"subst"	"0"	"00000"	"BEST1_000191"	"g.61726986T>C"	""	"{PMID:Meunier 2011:21269699}"	""	"p.I295T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792124"	"0"	"90"	"11"	"61723195"	"61723195"	"subst"	"0"	"00000"	"BEST1_000186"	"g.61723195T>C"	""	"{PMID:Meunier 2011:21269699}"	""	"p.Y85H"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792125"	"0"	"90"	"11"	"61723297"	"61723297"	"subst"	"2.80725E-5"	"00000"	"BEST1_000188"	"g.61723297G>C"	""	"{PMID:Meunier 2011:21269699}"	""	"p.E119Q"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792126"	"0"	"90"	"11"	"61722643"	"61722643"	"subst"	"0"	"00000"	"BEST1_000184"	"g.61722643A>T"	""	"{PMID:Meunier 2011:21269699}"	""	"p.I73F"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792127"	"0"	"70"	"11"	"61719303"	"61719303"	""	"0"	"00000"	"BEST1_000183"	"g.61719303G>Y"	""	"{PMID:Meunier 2011:21269699}"	""	"p.V9L"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000792128"	"0"	"90"	"11"	"61726986"	"61726986"	"subst"	"0"	"00000"	"BEST1_000191"	"g.61726986T>C"	""	"{PMID:Meunier 2011:21269699}"	""	"p.I295T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792129"	"0"	"90"	"11"	"61727007"	"61727007"	"subst"	"0"	"00000"	"BEST1_000033"	"g.61727007A>C"	""	"{PMID:Meunier 2011:21269699}"	""	"p.D302A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792130"	"0"	"70"	"11"	"61726995"	"61726995"	"subst"	"0"	"00000"	"BEST1_000192"	"g.61726995T>G"	""	"{PMID:Meunier 2011:21269699}"	""	"p.F298C"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000792242"	"0"	"90"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:_Audo-2012:22277662}"	""	"c.73C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000793792"	"0"	"70"	"11"	"61727048"	"61727048"	"subst"	"0"	"00000"	"BEST1_000118"	"g.61727048C>A"	""	"{PMID:Zhou-2011:21677794}"	""	"c.946C>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000793793"	"0"	"70"	"11"	"61729855"	"61729855"	"subst"	"2.03075E-5"	"00000"	"BEST1_000193"	"g.61729855C>T"	""	"{PMID:Zhou-2011:21677794}"	""	"c.1229C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000793794"	"0"	"70"	"11"	"61731635"	"61731635"	"subst"	"0"	"00000"	"BEST1_000194"	"g.61731635C>G"	""	"{PMID:Zhou-2011:21677794}"	""	"c.1799C>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000793936"	"0"	"70"	"11"	"61724466"	"61724466"	"subst"	"0"	"03508"	"BEST1_000182"	"g.61724466T>C"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	"ACMG"
"0000793937"	"0"	"70"	"11"	"61725733"	"61725733"	"subst"	"8.1215E-6"	"03508"	"BEST1_000165"	"g.61725733C>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	"ACMG"
"0000794287"	"0"	"70"	"11"	"61723391"	"61723391"	"subst"	"0"	"00000"	"BEST1_000197"	"g.61723391G>T"	""	"{PMID:Wang 2018:30029497}"	""	"NM_004183.3:c.449G>T, NP_004174.1:p.(Arg150Leu), NC_000011.9:g.61723391G>T"	""	"Germline"	"?"	""	"0"	""	""	"g.61955919G>T"	""	"likely pathogenic"	"ACMG"
"0000794288"	"0"	"90"	"11"	"61725733"	"61725733"	"subst"	"8.1215E-6"	"00000"	"BEST1_000165"	"g.61725733C>T"	""	"{PMID:Wang 2018:30029497}"	""	"NM_004183.3:c.830C>T, NP_004174.1:p.(Thr277Met), NC_000011.9:g.61725733C>T"	""	"Germline"	"?"	""	"0"	""	""	"g.61958261C>T"	""	"pathogenic"	"ACMG"
"0000794696"	"0"	"70"	"11"	"61729819"	"61729819"	"subst"	"0.000300554"	"00000"	"BEST1_000198"	"g.61729819C>T"	""	"{PMID:Kersten 2018:30215852}"	""	"c.1193C>T;  p.S398F"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.61962347C>T"	""	"likely pathogenic"	""
"0000794759"	"1"	"70"	"11"	"61719391"	"61719391"	"subst"	"0"	"03508"	"BEST1_000195"	"g.61719391T>G"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"VUS"	"ACMG"
"0000794760"	"2"	"70"	"11"	"61719418"	"61719418"	"subst"	"1.62631E-5"	"03508"	"BEST1_000196"	"g.61719418G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"VUS"	"ACMG"
"0000797527"	"0"	"90"	"11"	"61724904"	"61724904"	"subst"	"4.06072E-6"	"00000"	"BEST1_000060"	"g.61724904G>A"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"BEST1 c.682G>A, p.(Asp228Asn)"	""	"Germline"	"?"	""	"0"	""	""	"g.61957432G>A"	""	"pathogenic"	"ACMG"
"0000797528"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"BEST1 c.652C>T, p.(Arg218Cys)"	""	"Germline"	"?"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	"ACMG"
"0000797529"	"0"	"70"	"11"	"61723229"	"61723229"	"subst"	"0"	"00000"	"BEST1_000070"	"g.61723229A>G"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"BEST1 c.287A>G, p.(Gln96Arg)"	""	"Germline"	"?"	""	"0"	""	""	"g.61955757A>G"	""	"likely pathogenic"	"ACMG"
"0000797530"	"0"	"70"	"11"	"61727445"	"61727445"	"subst"	"0"	"00000"	"BEST1_000204"	"g.61727445C>T"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"BEST1 c.422G>A, p.(Arg141His), c.1030C>T, p.(Gln344*)"	""	"Germline"	"?"	""	"0"	""	""	"g.61959973C>T"	""	"likely pathogenic"	"ACMG"
"0000797531"	"0"	"90"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"BEST1 c.287A>G, p.(Gln96Arg)"	""	"Germline"	"?"	""	"0"	""	""	"g.61955892G>A"	""	"pathogenic"	"ACMG"
"0000797532"	"0"	"70"	"11"	"61723195"	"61723195"	"subst"	"0"	"00000"	"BEST1_000186"	"g.61723195T>C"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"BEST1 c.253T>C, p.(Tyr85His)"	""	"Germline"	"?"	""	"0"	""	""	"g.61955723T>C"	""	"likely pathogenic"	"ACMG"
"0000797533"	"0"	"90"	"11"	"61727006"	"61727006"	"subst"	"0"	"00000"	"BEST1_000032"	"g.61727006G>A"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"BEST1 c.904G>A, p.(Asp302Asn), RPGR c.2596del, p.(Glu866Lysfs*223)"	""	"Germline"	"?"	""	"0"	""	""	"g.61959534G>A"	""	"pathogenic"	"ACMG"
"0000797535"	"0"	"90"	"11"	"61727006"	"61727006"	"subst"	"0"	"00000"	"BEST1_000032"	"g.61727006G>A"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"BEST1 c.904G>A, p.(Asp302Asn)"	""	"Germline"	"?"	""	"0"	""	""	"g.61959534G>A"	""	"pathogenic"	"ACMG"
"0000797536"	"0"	"90"	"11"	"61727007"	"61727007"	"subst"	"0"	"00000"	"BEST1_000033"	"g.61727007A>C"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"BEST1 c.905A>C, p.(Asp302Ala)"	""	"Germline"	"?"	""	"0"	""	""	"g.61959535A>C"	""	"pathogenic"	"ACMG"
"0000797537"	"0"	"90"	"11"	"61719336"	"61719336"	"subst"	"0"	"00000"	"BEST1_000199"	"g.61719336C>G"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"BEST1 c.58C>G, p.(Leu20Val)"	""	"Germline"	"?"	""	"0"	""	""	"g.61951864C>G"	""	"pathogenic"	"ACMG"
"0000797538"	"0"	"70"	"11"	"61726989"	"61726989"	"subst"	"0"	"00000"	"BEST1_000109"	"g.61726989A>G"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"BEST1 c.887A>G, p.(Asn296Ser)"	""	"Germline"	"?"	""	"0"	""	""	"g.61959517A>G"	""	"likely pathogenic"	"ACMG"
"0000797539"	"0"	"90"	"11"	"61727006"	"61727006"	"subst"	"0"	"00000"	"BEST1_000032"	"g.61727006G>A"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"BEST1 c.904G>A, p.(Asp302Asn)"	""	"Germline"	"?"	""	"0"	""	""	"g.61959534G>A"	""	"pathogenic"	"ACMG"
"0000797540"	"0"	"70"	"11"	"61723237"	"61723237"	"subst"	"0"	"00000"	"BEST1_000201"	"g.61723237A>C"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"BEST1 c.295A>C, p.(Asn99His)"	""	"Germline"	"?"	""	"0"	""	""	"g.61955765A>C"	""	"likely pathogenic"	"ACMG"
"0000797541"	"0"	"70"	"11"	"61727038"	"61727038"	"subst"	"3.65533E-5"	"00000"	"BEST1_000203"	"g.61727038C>A"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"BEST1 c.936C>A, p.(Asp312Glu)"	""	"Germline"	"?"	""	"0"	""	""	"g.61959566C>A"	""	"likely pathogenic"	"ACMG"
"0000797542"	"0"	"70"	"11"	"61723229"	"61723229"	"subst"	"0"	"00000"	"BEST1_000070"	"g.61723229A>G"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"BEST1 c.287A>G, p.(Gln96Arg)"	""	"Germline"	"?"	""	"0"	""	""	"g.61955757A>G"	""	"likely pathogenic"	"ACMG"
"0000797543"	"0"	"90"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"BEST1 c.653G>A, p.(Arg218His)"	""	"Germline"	"?"	""	"0"	""	""	"g.61957403G>A"	""	"pathogenic"	"ACMG"
"0000797544"	"0"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"BEST1 c.728C>T, p.(Ala243Val)"	""	"Germline"	"?"	""	"0"	""	""	"g.61958159C>T"	""	"likely pathogenic"	"ACMG"
"0000797545"	"0"	"90"	"11"	"61723360"	"61723360"	"subst"	"3.49572E-5"	"00000"	"BEST1_000202"	"g.61723360C>G"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"BEST1 c.418C>G, p.(Leu140Val)"	""	"Germline"	"?"	""	"0"	""	""	"g.61955888C>G"	""	"pathogenic"	"ACMG"
"0000797546"	"0"	"70"	"11"	"61719418"	"61719418"	"subst"	"1.62631E-5"	"00000"	"BEST1_000196"	"g.61719418G>A"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"BEST1 c.140G>A, p.(Arg47His)"	""	"Germline"	"?"	""	"0"	""	""	"g.61951946G>A"	""	"likely pathogenic"	"ACMG"
"0000797920"	"0"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"USH2A c.672 C>A, p.(Ser224Arg), c.13948 C>T, p.(Gln4650*), BEST1 c.422G>A, p.(Arg141His)"	""	"Germline"	"?"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic"	"ACMG"
"0000797948"	"0"	"50"	"11"	"61727478"	"61727478"	"subst"	"0.000154009"	"00000"	"BEST1_000114"	"g.61727478C>T"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"BEST1 c.1063C>T, p.(Arg355Cys)"	"single heterozygous variant (recessive)"	"Germline"	"?"	""	"0"	""	""	"g.61960006C>T"	""	"VUS"	"ACMG"
"0000797949"	"3"	"50"	"11"	"61719373"	"61719373"	"subst"	"0"	"00000"	"BEST1_000200"	"g.61719373T>C"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"BEST1 c.95T>C, p.(Leu32Pro), c.95T>C, p.(Leu32Pro)"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.61951901T>C"	""	"VUS"	"ACMG"
"0000798435"	"0"	"70"	"11"	"61725630"	"61725630"	"subst"	"0"	"00000"	"BEST1_000175"	"g.61725630G>A"	""	"{PMID:Song-2011:22025579}"	""	"c.727G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000805221"	"0"	"30"	"11"	"61719436"	"61719436"	"subst"	"3.66247E-5"	"01943"	"BEST1_000205"	"g.61719436G>T"	""	""	""	"BEST1(NM_001363592.1):c.152+6G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000805222"	"0"	"50"	"11"	"61724863"	"61724863"	"subst"	"0"	"02327"	"BEST1_000049"	"g.61724863T>C"	""	""	""	"BEST1(NM_001139443.2):c.461T>C (p.M154T), BEST1(NM_004183.4):c.641T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000805223"	"0"	"70"	"11"	"61724886"	"61724886"	"subst"	"0"	"02327"	"BEST1_000206"	"g.61724886G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000805224"	"0"	"90"	"11"	"61724901"	"61724901"	"subst"	"0"	"02329"	"BEST1_000022"	"g.61724901T>A"	""	""	""	"BEST1(NM_001139443.2):c.499T>A (p.Y167N), BEST1(NM_004183.3):c.679T>A (p.Y227N), BEST1(NM_004183.4):c.679T>A (p.(Tyr227Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000805225"	"0"	"50"	"11"	"61727469"	"61727469"	"subst"	"0.000115905"	"02330"	"BEST1_000080"	"g.61727469G>A"	""	""	""	"BEST1(NM_001139443.1):c.874G>A (p.A292T), BEST1(NM_001363593.2):c.82G>A (p.A28T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000811393"	"0"	"70"	"11"	"61719315"	"61719315"	"subst"	"0"	"00000"	"BEST1_000006"	"g.61719315C>T"	""	"{PMID:Khan 2019:31725702}"	""	"Allele 1 c.37C>T (p.Arg13Cys), Allele 2 Wildtype"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61951843C>T"	""	"likely pathogenic"	""
"0000811394"	"0"	"70"	"11"	"61719289"	"61719289"	"subst"	"0"	"00000"	"BEST1_000207"	"g.61719289C>T"	""	"{PMID:Khan 2019:31725702}"	""	"Allele 1 c.11C>T (p.Thr4IIe), Allele 2 Wildtype"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61951817C>T"	""	"likely pathogenic"	""
"0000811513"	"0"	"70"	"19"	"33167380"	"33167380"	"subst"	"0"	"00000"	"RGS9BP_000011"	"g.33167380G>T"	""	"{PMID:Kim 2019:31496144}"	""	"BEST1 c.888C>A, p.N296K"	""	"Germline"	"?"	""	"0"	""	""	"g.32676474G>T"	""	"likely pathogenic"	"ACMG"
"0000812192"	"0"	"70"	"11"	"61723342"	"61723342"	"subst"	"3.4905E-5"	"00000"	"BEST1_000209"	"g.61723342C>G"	""	"{PMID:Martin Merida 2019:30902645}"	""	"BEST1 Ex.4 c.400C>G p.(Leu134Val), Ex.8 c.934G>A p.(Asp312Asn)"	"compound heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61955870C>G"	""	"likely pathogenic"	""
"0000812193"	"0"	"70"	"11"	"61727036"	"61727036"	"subst"	"4.87369E-5"	"00000"	"BEST1_000036"	"g.61727036G>A"	""	"{PMID:Martin Merida 2019:30902645}"	""	"BEST1 Ex.4 c.400C>G p.(Leu134Val), Ex.8 c.934G>A p.(Asp312Asn)"	"compound heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61959564G>A"	""	"likely pathogenic"	""
"0000812565"	"0"	"70"	"11"	"61727005"	"61727005"	"subst"	"0"	"00000"	"BEST1_000127"	"g.61727005T>G"	""	"{PMID:Wang 2019:31106028}"	""	"c.903T>G, p.(Asp301Glu)"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.61959533T>G"	""	"likely pathogenic"	""
"0000812578"	"0"	"50"	"11"	"61727000"	"61727000"	"subst"	"0"	"00000"	"BEST1_000142"	"g.61727000G>A"	""	"{PMID:Wang 2019:31106028}"	""	"c.898G>A, p.(Glu300Lys)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959528G>A"	""	"VUS"	""
"0000812671"	"0"	"70"	"11"	"61723252"	"61723252"	"subst"	"0"	"00000"	"BEST1_000208"	"g.61723252G>C"	""	"{PMID:Wang 2019:31106028}"	""	"c.310G>C, p.(Asp104His)"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.61955780G>C"	""	"likely pathogenic"	""
"0000812760"	"0"	"70"	"11"	"61730100"	"61730100"	"subst"	"0.00201842"	"00000"	"BEST1_000057"	"g.61730100G>A"	""	"{PMID:Wang 2019:31106028}"	""	"c.1474G>A, p.(Val492Ile)"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.61962628G>A"	""	"likely pathogenic"	""
"0000812764"	"3"	"70"	"11"	"61719418"	"61719418"	"subst"	"1.62631E-5"	"00000"	"BEST1_000196"	"g.61719418G>A"	""	"{PMID:Wang 2019:31106028}"	""	"c.140G>A, p.(Arg47His)"	"Homozygous"	"Germline"	"?"	""	"0"	""	""	"g.61951946G>A"	""	"likely pathogenic"	""
"0000812789"	"0"	"70"	"11"	"61727452"	"61727452"	"subst"	"5.35257E-5"	"00000"	"BEST1_000064"	"g.61727452C>A"	""	"{PMID:Wang 2019:31106028}"	""	"c.1037C>A, p.(Pro346His)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959980C>A"	""	"likely pathogenic"	""
"0000812815"	"0"	"70"	"11"	"61723219"	"61723219"	"subst"	"0"	"00000"	"BEST1_000174"	"g.61723219T>C"	""	"{PMID:Wang 2019:31106028}"	""	"c.277T>C, p.(Trp93Arg)"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.61955747T>C"	""	"likely pathogenic"	""
"0000812921"	"21"	"30"	"11"	"61727482"	"61727482"	"subst"	"7.50801E-5"	"00000"	"BEST1_000210"	"g.61727482G>A"	""	"{PMID:Salehi Chaleshtori 2019:31470097}"	""	"GUCY2D (NM_000180.3:c.2114–27_2263 + 18del), BEST1 (NM_001139443.1:c.887G >"	""	"Germline"	"no"	""	"0"	""	""	"g.61960010G>A"	""	"likely benign"	""
"0000812923"	"21"	"30"	"11"	"61727482"	"61727482"	"subst"	"7.50801E-5"	"00000"	"BEST1_000210"	"g.61727482G>A"	""	"{PMID:Salehi Chaleshtori 2019:31470097}"	""	"GUCY2D (NM_000180.3:c.2114–27_2263 + 18del), BEST1 (NM_001139443.1:c.887G >"	""	"Germline"	"no"	""	"0"	""	""	"g.61960010G>A"	""	"likely benign"	""
"0000812925"	"3"	"30"	"11"	"61727482"	"61727482"	"subst"	"7.50801E-5"	"00000"	"BEST1_000210"	"g.61727482G>A"	""	"{PMID:Salehi Chaleshtori 2019:31470097}"	""	"GUCY2D (NM_000180.3:c.2114–27_2263 + 18del), BEST1 (NM_001139443.1:c.887G >"	""	"Germline"	"yes"	""	"0"	""	""	"g.61960010G>A"	""	"likely benign"	""
"0000812927"	"3"	"30"	"11"	"61727482"	"61727482"	"subst"	"7.50801E-5"	"00000"	"BEST1_000210"	"g.61727482G>A"	""	"{PMID:Salehi Chaleshtori 2019:31470097}"	""	"GUCY2D (NM_000180.3:c.2114–27_2263 + 18del), BEST1 (NM_001139443.1:c.887G >"	""	"Germline"	"yes"	""	"0"	""	""	"g.61960010G>A"	""	"likely benign"	""
"0000812929"	"3"	"30"	"11"	"61727482"	"61727482"	"subst"	"7.50801E-5"	"00000"	"BEST1_000210"	"g.61727482G>A"	""	"{PMID:Salehi Chaleshtori 2019:31470097}"	""	"GUCY2D (NM_000180.3:c.2114–27_2263 + 18del), BEST1 (NM_001139443.1:c.887G >"	""	"Germline"	"yes"	""	"0"	""	""	"g.61960010G>A"	""	"likely benign"	""
"0000812931"	"3"	"30"	"11"	"61727482"	"61727482"	"subst"	"7.50801E-5"	"00000"	"BEST1_000210"	"g.61727482G>A"	""	"{PMID:Salehi Chaleshtori 2019:31470097}"	""	"GUCY2D (NM_000180.3:c.2114–27_2263 + 18del), BEST1 (NM_001139443.1:c.887G >"	""	"Germline"	"yes"	""	"0"	""	""	"g.61960010G>A"	""	"likely benign"	""
"0000812933"	"3"	"30"	"11"	"61727482"	"61727482"	"subst"	"7.50801E-5"	"00000"	"BEST1_000210"	"g.61727482G>A"	""	"{PMID:Salehi Chaleshtori 2019:31470097}"	""	"GUCY2D (NM_000180.3:c.2114–27_2263 + 18del), BEST1 (NM_001139443.1:c.887G >"	""	"Germline"	"yes"	""	"0"	""	""	"g.61960010G>A"	""	"likely benign"	""
"0000812935"	"3"	"30"	"11"	"61727482"	"61727482"	"subst"	"7.50801E-5"	"00000"	"BEST1_000210"	"g.61727482G>A"	""	"{PMID:Salehi Chaleshtori 2019:31470097}"	""	"GUCY2D (NM_000180.3:c.2114–27_2263 + 18del), BEST1 (NM_001139443.1:c.887G >"	""	"Germline"	"yes"	""	"0"	""	""	"g.61960010G>A"	""	"likely benign"	""
"0000813014"	"3"	"70"	"11"	"61719352"	"61719352"	"subst"	"0"	"00000"	"BEST1_000043"	"g.61719352G>A"	""	"{PMID:Ehrenberg 2019:31814694}"	""	"BEST1 (NM_004183.3; OMIM: 607854): c.74G>A; p.Arg25Gln (hom) (ARB), ?/(ichtiosis)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951880G>A"	""	"likely pathogenic"	""
"0000813015"	"3"	"70"	"11"	"61719352"	"61719352"	"subst"	"0"	"00000"	"BEST1_000043"	"g.61719352G>A"	""	"{PMID:Ehrenberg 2019:31814694}"	""	"BEST1 (NM_004183.3; OMIM: 607854): c.74G>A; p.Arg25Gln (hom) (ARB), ?/(ichtiosis)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951880G>A"	""	"likely pathogenic"	""
"0000815315"	"0"	"90"	"11"	"61723335"	"61723335"	"subst"	"0"	"00000"	"BEST1_000211"	"g.61723335C>A"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"BEST1:NM_004183 c.C393A, p.Y131X"	"heterozygous, individual unsolved, causality of variants unknown"	"Germline"	"?"	""	"0"	""	""	"g.61955863C>A"	""	"pathogenic"	"ACMG"
"0000815335"	"0"	"70"	"11"	"61724436"	"61724436"	"subst"	"6.50042E-5"	"00000"	"BEST1_000212"	"g.61724436T>C"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"BEST1:NM_004183 c.T602C, p.I201T"	"heterozygous, individual solved, variant causal"	"Germline"	"yes"	""	"0"	""	""	"g.61956964T>C"	""	"likely pathogenic"	"ACMG"
"0000815356"	"0"	"70"	"11"	"61719289"	"61719289"	"subst"	"0"	"00000"	"BEST1_000207"	"g.61719289C>T"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"BEST1:NM_004183 c.C11T, p.T4I"	"heterozygous, individual unsolved, causality of variants unknown"	"Germline"	"?"	""	"0"	""	""	"g.61951817C>T"	""	"likely pathogenic"	"ACMG"
"0000815377"	"0"	"70"	"11"	"61724859"	"61724861"	"del"	"0"	"00000"	"BEST1_000213"	"g.61724859_61724861del"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"BEST1:NM_004183 c.637-2_637del, p.Glu213del"	"error in annotation: c.637-2_637del normalised to c.637_639del, in-frame deletion, heterozygous, individual solved, variant causal"	"Germline"	"yes"	""	"0"	""	""	"g.61957387_61957389del"	""	"likely pathogenic"	"ACMG"
"0000815480"	"0"	"90"	"11"	"61723330"	"61723330"	"subst"	"2.09702E-5"	"00000"	"BEST1_000189"	"g.61723330C>A"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"BEST1:NM_004183 c.C388A, p.R130S"	"heterozygous, individual solved, variant causal"	"Germline"	"yes"	""	"0"	""	""	"g.61955858C>A"	""	"pathogenic"	"ACMG"
"0000815525"	"0"	"70"	"11"	"61724436"	"61724436"	"subst"	"6.50042E-5"	"00000"	"BEST1_000212"	"g.61724436T>C"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"BEST1:NM_004183 c.T602C, p.I201T"	"heterozygous, individual solved, variant causal"	"Germline"	"yes"	""	"0"	""	""	"g.61956964T>C"	""	"likely pathogenic"	"ACMG"
"0000815603"	"0"	"70"	"11"	"61724920"	"61724920"	"subst"	"0"	"00000"	"BEST1_000214"	"g.61724920C>A"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"BEST1:NM_004183 c.C698A, p.P233Q"	"heterozygous, individual unsolved, causality of variants unknown"	"Germline"	"?"	""	"0"	""	""	"g.61957448C>A"	""	"likely pathogenic"	"ACMG"
"0000816074"	"0"	"70"	"11"	"61722666"	"61722666"	"subst"	"0"	"00000"	"BEST1_000217"	"g.61722666C>G"	""	"{PMID:Zampaglione 2020:32037395}"	""	"BEST1 c.240C>G, p.Phe20Leu"	"different transcript, error in annotation NM_001300787.1(BEST1):c.60C>G, p.(Phe20Leu), heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955194C>G"	""	"likely pathogenic"	""
"0000816579"	"0"	"70"	"11"	"61729809"	"61729809"	"subst"	"1.21852E-5"	"00006"	"BEST1_000215"	"g.61729809G>C"	""	"{PMID:Mauro-Herrera 2021:34209753}"	""	"1003G>C (Gly335Arg)"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"VUS"	""
"0000817312"	"0"	"90"	"11"	"61956946"	"61956946"	"subst"	"0"	"00000"	"BEST1_000018"	"g.61956946C>T"	""	"{PMID:Sun 2020:32100970}"	""	"BEST1 c.584C > T, p.Ala195Val, heterozygous"	""	"Unknown"	"?"	""	"0"	""	""	"g.61956946C>T"	""	"pathogenic"	"ACMG"
"0000817630"	"1"	"70"	"11"	"61723330"	"61723330"	"subst"	"2.09702E-5"	"00000"	"BEST1_000189"	"g.61723330C>A"	""	"{PMID:Zanolli 2020:32141364}"	""	"BEST1 c.388C>A; c.-37+5G>A"	"no protein change given, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955858C>A"	""	"likely pathogenic"	""
"0000817631"	"2"	"70"	"11"	"61717904"	"61717904"	"subst"	"0"	"00000"	"BEST1_000216"	"g.61717904G>A"	""	"{PMID:Zanolli 2020:32141364}"	""	"BEST1 c.388C>A; c.-37+5G>A"	"compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61950432G>A"	""	"likely pathogenic"	""
"0000817651"	"0"	"70"	"11"	"61725666"	"61725666"	"subst"	"5.27893E-5"	"00000"	"BEST1_000063"	"g.61725666C>T"	""	"{PMID:Zanolli 2020:32141364}"	""	"BEST1 c.763C>T"	"no protein change given, heterozygous, RCV000132651.1"	"Unknown"	"?"	""	"0"	""	""	"g.61958194C>T"	""	"likely pathogenic"	""
"0000817686"	"1"	"70"	"11"	"61723294"	"61723294"	"subst"	"0"	"00000"	"BEST1_000218"	"g.61723294G>C"	""	"{PMID:Zanolli 2020:32141364}"	""	"BEST1 c.172G>C; c.599delC"	"no protein change given, most probably a different transcript, NM_001139443.1(BEST1):c.172G>C, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955822G>C"	""	"likely pathogenic"	""
"0000817687"	"2"	"70"	"11"	"61725682"	"61725682"	"del"	"0"	"00000"	"BEST1_000139"	"g.61725682del"	""	"{PMID:Zanolli 2020:32141364}"	""	"BEST1 c.172G>C; c.599delC"	"no protein change given, most probably a different transcript, NM_001139443.1(BEST1):c.172G>C, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958210del"	""	"likely pathogenic"	""
"0000817688"	"1"	"70"	"11"	"61726990"	"61726990"	"subst"	"0"	"00000"	"BEST1_000110"	"g.61726990C>A"	""	"{PMID:Zanolli 2020:32141364}"	""	"BEST1 c.888C>A; c.584C>T"	"no protein change given, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959518C>A"	""	"likely pathogenic"	""
"0000817689"	"2"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Zanolli 2020:32141364}"	""	"BEST1 c.888C>A; c.584C>T"	"no protein change given, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic"	""
"0000817690"	"0"	"70"	"11"	"61727516"	"61727516"	"subst"	"0"	"00000"	"BEST1_000219"	"g.61727516G>A"	""	"{PMID:Zanolli 2020:32141364}"	""	"BEST1 c.920+1G>A; c.920+1G>A"	"most probably a different transcript, NM_001139443.1(BEST1):c.920+1G>A, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61960044G>A"	""	"likely pathogenic"	""
"0000819387"	"1"	"70"	"11"	"61725754"	"61725754"	"subst"	"0"	"00000"	"BEST1_000230"	"g.61725754A>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BEST1, variant 1: c.851A>T/p.Y284F"	"possibly solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958282A>T"	""	"likely pathogenic"	""
"0000819388"	"1"	"70"	"11"	"61725754"	"61725754"	"subst"	"0"	"00000"	"BEST1_000230"	"g.61725754A>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BEST1, variant 1: c.851A>T/p.Y284F"	"possibly solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958282A>T"	""	"likely pathogenic"	""
"0000819397"	"1"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BEST1, variant 1: c.884_886del/p.I295del"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959514_61959516del"	""	"likely pathogenic"	""
"0000819400"	"1"	"70"	"11"	"61719350"	"61719350"	"subst"	"0"	"00000"	"BEST1_000170"	"g.61719350G>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BEST1, variant 1: c.72G>T/p.W24C"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951878G>T"	""	"likely pathogenic"	""
"0000819401"	"1"	"70"	"11"	"61719350"	"61719350"	"subst"	"0"	"00000"	"BEST1_000170"	"g.61719350G>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BEST1, variant 1: c.72G>T/p.W24C"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951878G>T"	""	"likely pathogenic"	""
"0000819402"	"1"	"70"	"11"	"61719350"	"61719350"	"subst"	"0"	"00000"	"BEST1_000170"	"g.61719350G>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BEST1, variant 1: c.72G>T/p.W24C"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951878G>T"	""	"likely pathogenic"	""
"0000819413"	"1"	"70"	"11"	"61723237"	"61723237"	"subst"	"0"	"00000"	"BEST1_000224"	"g.61723237A>G"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BEST1, variant 1: c.295A>G/p.N99D"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955765A>G"	""	"likely pathogenic"	""
"0000819445"	"1"	"70"	"11"	"61726977"	"61726977"	"subst"	"0"	"00000"	"BEST1_000231"	"g.61726977A>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BEST1, variant 1: c.875A>T/p.E292V"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959505A>T"	""	"likely pathogenic"	""
"0000819468"	"1"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BEST1, variant 1: c.728C>T/p.A243V"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958159C>T"	""	"likely pathogenic"	""
"0000819488"	"1"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BEST1, variant 1: c.422G>A/p.R141H"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic"	""
"0000819494"	"1"	"70"	"11"	"61719322"	"61719322"	"subst"	"0"	"00000"	"BEST1_000221"	"g.61719322G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BEST1, variant 1: c.44G>A/p.G15D"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951850G>A"	""	"likely pathogenic"	""
"0000819495"	"1"	"70"	"11"	"61719322"	"61719322"	"subst"	"0"	"00000"	"BEST1_000221"	"g.61719322G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BEST1, variant 1: c.44G>A/p.G15D"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951850G>A"	""	"likely pathogenic"	""
"0000819508"	"1"	"70"	"11"	"61727034"	"61727034"	"subst"	"0"	"00000"	"BEST1_000233"	"g.61727034T>G"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BEST1, variant 1: c.932T>G/p.V311G"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959562T>G"	""	"likely pathogenic"	""
"0000819533"	"1"	"70"	"11"	"61723342"	"61723342"	"subst"	"3.4905E-5"	"00000"	"BEST1_000209"	"g.61723342C>G"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BEST1, variant 1: c.400C>G/p.L134V, variant 2: c.400C>G/p.L134V"	"solved, homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955870C>G"	""	"likely pathogenic"	""
"0000819553"	"1"	"70"	"11"	"61724925"	"61724925"	"subst"	"0"	"00000"	"BEST1_000107"	"g.61724925G>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BEST1, variant 1: c.703G>T/p.V235L"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957453G>T"	""	"likely pathogenic"	""
"0000819557"	"1"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BEST1, variant 1: c.884_886del/p.I295del"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959514_61959516del"	""	"likely pathogenic"	""
"0000819564"	"1"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BEST1, variant 1: c.728C>T/p.A243V"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958159C>T"	""	"likely pathogenic"	""
"0000819573"	"1"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BEST1, variant 1: c.884_886del/p.I295del"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959514_61959516del"	""	"likely pathogenic"	""
"0000819576"	"1"	"70"	"11"	"61723339"	"61723339"	"subst"	"1.39792E-5"	"00000"	"BEST1_000225"	"g.61723339A>C"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BEST1, variant 1: c.397A>C/p.N133H, variant 2: c.712del/p.Q238Rfs*3"	"possibly solved, compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955867A>C"	""	"likely pathogenic"	""
"0000819586"	"1"	"70"	"11"	"61726991"	"61726991"	"subst"	"4.06105E-6"	"00000"	"BEST1_000030"	"g.61726991C>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BEST1, variant 1: c.889C>T/p.P297S, variant 2: c.1315C>T/p.Q439*"	"possibly solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959519C>T"	""	"likely pathogenic"	""
"0000819592"	"1"	"70"	"11"	"61719289"	"61719289"	"subst"	"0"	"00000"	"BEST1_000207"	"g.61719289C>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BEST1, variant 1: c.11C>T/p.T4I"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951817C>T"	""	"likely pathogenic"	""
"0000819608"	"1"	"70"	"11"	"61724892"	"61724892"	"subst"	"0"	"00000"	"BEST1_000146"	"g.61724892C>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BEST1, variant 1: c.670C>A/p.L224M"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957420C>A"	""	"likely pathogenic"	""
"0000819609"	"1"	"70"	"11"	"61724892"	"61724892"	"subst"	"0"	"00000"	"BEST1_000146"	"g.61724892C>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BEST1, variant 1: c.670C>A/p.L224M"	"solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957420C>A"	""	"likely pathogenic"	""
"0000819851"	"1"	"70"	"11"	"61719295"	"61719295"	"subst"	"0"	"00000"	"BEST1_000121"	"g.61719295C>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BEST1, variant 1: c.17C>T/p.T6I"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951823C>T"	""	"likely pathogenic"	""
"0000820056"	"1"	"70"	"11"	"61725682"	"61725682"	"del"	"0"	"00000"	"BEST1_000139"	"g.61725682del"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BEST1, variant 1: c.779del/p.P260Qfs*29, variant 2: c.779del/p.P260Qfs*29"	"solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958210del"	""	"likely pathogenic"	""
"0000820095"	"1"	"70"	"11"	"61719315"	"61719315"	"subst"	"0"	"00000"	"BEST1_000220"	"g.61719315C>G"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BEST1, variant 1: c.37C>G/p.R13G, variant 2: c.37C>G/p.R13G"	"possibly solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951843C>G"	""	"likely pathogenic"	""
"0000820191"	"1"	"70"	"11"	"61722675"	"61722675"	"del"	"4.06174E-6"	"00000"	"BEST1_000222"	"g.61722675del"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BEST1, variant 1: c.247+2del/p.?"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955203del"	""	"likely pathogenic"	""
"0000820673"	"1"	"70"	"11"	"61724934"	"61724934"	"del"	"0"	"00000"	"BEST1_000229"	"g.61724934del"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BEST1, variant 1: c.397A>C/p.N133H, variant 2: c.712del/p.Q238Rfs*3"	"possibly solved, compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957462del"	""	"likely pathogenic"	""
"0000820677"	"1"	"70"	"11"	"61729941"	"61729941"	"subst"	"0"	"00000"	"BEST1_000234"	"g.61729941C>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BEST1, variant 1: c.889C>T/p.P297S, variant 2: c.1315C>T/p.Q439*"	"possibly solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61962469C>T"	""	"likely pathogenic"	""
"0000821165"	"3"	"90"	"11"	"61717900"	"61717900"	"subst"	"0"	"00000"	"BEST1_000116"	"g.61717900G>T"	""	"{PMID:Turro 2020:32581362}"	""	"BEST1 c.-29+1G>T,"	"homozygous, different transcript, NM_001139443.1:c.-29+1G>T"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61950428G>T"	""	"pathogenic"	""
"0000821166"	"3"	"70"	"11"	"61723229"	"61723240"	"del"	"0"	"00000"	"BEST1_000223"	"g.61723229_61723240del"	""	"{PMID:Turro 2020:32581362}"	""	"BEST1 c.107_118delAGTACGAGAACC, p.Gln36_Asn39del"	"homozygous, different transcript, NM_001139443.1:c.107_118delAGTACGAGAACC, p.Gln36_Asn39del"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61955757_61955768del"	""	"likely pathogenic"	""
"0000822093"	"0"	"70"	"11"	"61719294"	"61719294"	"subst"	"0"	"00000"	"BEST1_000004"	"g.61719294A>C"	""	"{PMID:Booij-2011:20801516}"	""	"c.16A>C"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000822094"	"0"	"70"	"11"	"61730234"	"61730234"	"subst"	"0.459148"	"00000"	"BEST1_000041"	"g.61730234T>C"	""	"{PMID:Booij-2011:20801516}"	""	"c.1608T>C"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000822095"	"0"	"70"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Booij-2011:20801516}"	""	"c.653G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000822211"	"1"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Maggi_2021:33546218}"	""	"c.422G>A"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000822212"	"1"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Maggi_2021:33546218}"	""	"c.422G>A"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000822219"	"1"	"70"	"11"	"61724880"	"61724880"	"subst"	"8.1213E-6"	"00000"	"BEST1_000227"	"g.61724880C>T"	""	"{PMID:Maggi_2021:33546218}"	""	"c.658C>T"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000822220"	"1"	"70"	"11"	"61724880"	"61724880"	"subst"	"8.1213E-6"	"00000"	"BEST1_000227"	"g.61724880C>T"	""	"{PMID:Maggi_2021:33546218}"	""	"c.658C>T"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000822247"	"0"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Maggi_2021:33546218}"	""	"c.728C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000822251"	"0"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Maggi_2021:33546218}"	""	"c.584C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000822252"	"0"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Maggi_2021:33546218}"	""	"c.584C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000822255"	"1"	"70"	"11"	"61717900"	"61717900"	"subst"	"0"	"00000"	"BEST1_000116"	"g.61717900G>T"	""	"{PMID:Maggi_2021:33546218}"	""	"c.-37+1G>T"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000822256"	"1"	"70"	"11"	"61717900"	"61717900"	"subst"	"0"	"00000"	"BEST1_000116"	"g.61717900G>T"	""	"{PMID:Maggi_2021:33546218}"	""	"c.-37+1G>T"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000822314"	"0"	"70"	"11"	"61723330"	"61723330"	"subst"	"2.09702E-5"	"00000"	"BEST1_000189"	"g.61723330C>A"	""	"{PMID:Maggi_2021:33546218}"	""	"c.388C>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000822315"	"0"	"70"	"11"	"61724860"	"61724860"	"subst"	"4.06081E-6"	"00000"	"BEST1_000226"	"g.61724860A>G"	""	"{PMID:Maggi_2021:33546218}"	""	"c.638A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000822320"	"1"	"70"	"11"	"61727009"	"61727009"	"subst"	"0"	"00000"	"BEST1_000232"	"g.61727009G>T"	""	"{PMID:Maggi_2021:33546218}"	""	"c.907G>T"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000822359"	"0"	"70"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:Maggi_2021:33546218}"	""	"c.73C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000822362"	"0"	"70"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Maggi_2021:33546218}"	""	"c.653G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000822412"	"0"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	""	"{PMID:Maggi_2021:33546218}"	""	"c.884_886del"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000822461"	"0"	"70"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Maggi_2021:33546218}"	""	"c.653G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000822670"	"0"	"70"	"11"	"61724931"	"61724931"	"subst"	"0"	"00000"	"BEST1_000228"	"g.61724931A>T"	""	"{PMID:Gliem 2020:32646556}"	""	"BEST1 c.0709A>T, p.Thr237Ser"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957459A>T"	""	"likely pathogenic"	""
"0000822671"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Gliem 2020:32646556}"	""	"BEST1 c.652C>T, p.Arg218Cys"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000822672"	"0"	"70"	"11"	"61723370"	"61723370"	"subst"	"0"	"00000"	"BEST1_000124"	"g.61723370T>C"	""	"{PMID:Gliem 2020:32646556}"	""	"BEST1 c.428T>C, p.Val143Ala"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955898T>C"	""	"likely pathogenic"	""
"0000822673"	"0"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Gliem 2020:32646556}"	""	"BEST1 c.728C>T, p.Ala243Val"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958159C>T"	""	"likely pathogenic"	""
"0000822674"	"0"	"70"	"11"	"61719295"	"61719295"	"subst"	"0"	"00000"	"BEST1_000121"	"g.61719295C>T"	""	"{PMID:Gliem 2020:32646556}"	""	"BEST1 c.17C>T, p.Thr6Ile"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951823C>T"	""	"likely pathogenic"	""
"0000822675"	"3"	"70"	"11"	"61727371"	"61727371"	"subst"	"0"	"00000"	"BEST1_000128"	"g.61727371T>C"	""	"{PMID:Gliem 2020:32646556}"	""	"BEST1 c.956T>C, p.Leu319Pro"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959899T>C"	""	"likely pathogenic"	""
"0000822676"	"3"	"70"	"11"	"61727036"	"61727036"	"subst"	"4.87369E-5"	"00000"	"BEST1_000036"	"g.61727036G>A"	""	"{PMID:Gliem 2020:32646556}"	""	"BEST1 c.934G>A, p.Asp312Asn"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959564G>A"	""	"likely pathogenic"	""
"0000823202"	"0"	"50"	"11"	"61719306"	"61719306"	"subst"	"0"	"00000"	"BEST1_000168"	"g.61719306G>A"	""	"{PMID:Hull 2020:32856788}"	""	"BEST1 nucleotide 1, protein 1:c.28G>A, p.Ala10Thr"	"heterozygous, ACMG unclassified - no access to supplementary table 2"	"Germline"	"?"	""	"0"	""	""	"g.61951834G>A"	""	"VUS"	""
"0000823203"	"0"	"50"	"11"	"61719306"	"61719306"	"subst"	"0"	"00000"	"BEST1_000168"	"g.61719306G>A"	""	"{PMID:Hull 2020:32856788}"	""	"BEST1 nucleotide 1, protein 1:c.28G>A, p.Ala10Thr"	"heterozygous, ACMG unclassified - no access to supplementary table 2"	"Germline"	"?"	""	"0"	""	""	"g.61951834G>A"	""	"VUS"	""
"0000823204"	"0"	"50"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:Hull 2020:32856788}"	""	"BEST1 nucleotide 1, protein 1:c.73C>T, p.Arg25Trp"	"heterozygous, ACMG unclassified - no access to supplementary table 2"	"Germline"	"?"	""	"0"	""	""	"g.61951879C>T"	""	"VUS"	""
"0000823205"	"0"	"50"	"11"	"61719372"	"61719372"	"subst"	"0"	"00000"	"BEST1_000235"	"g.61719372C>G"	""	"{PMID:Hull 2020:32856788}"	""	"BEST1 nucleotide 1, protein 1:c.94C>G, p.Leu32Val"	"heterozygous, ACMG classified, novel (Table 2)"	"Germline"	"?"	""	"0"	""	""	"g.61951900C>G"	""	"VUS"	"ACMG"
"0000823206"	"0"	"50"	"11"	"61724436"	"61724436"	"subst"	"6.50042E-5"	"00000"	"BEST1_000212"	"g.61724436T>C"	""	"{PMID:Hull 2020:32856788}"	""	"BEST1 nucleotide 1, protein 1:c.602T>C, p.Ile201Thr"	"heterozygous, ACMG unclassified - no access to supplementary table 2"	"Germline"	"?"	""	"0"	""	""	"g.61956964T>C"	""	"VUS"	""
"0000823207"	"0"	"70"	"11"	"61726994"	"61726994"	"subst"	"0"	"00000"	"BEST1_000236"	"g.61726994T>G"	""	"{PMID:Hull 2020:32856788}"	""	"BEST1 nucleotide 1, protein 1:c.892T>G, p.Phe298Val"	"heterozygous, ACMG classified, novel (Table 2)"	"Germline"	"?"	""	"0"	""	""	"g.61959522T>G"	""	"likely pathogenic"	"ACMG"
"0000824120"	"11"	"70"	"11"	"61727394"	"61727394"	"del"	"0"	"00000"	"BEST1_000237"	"g.61727394del"	""	"{PMID:Rodriguez Munoz 2021:33411470}"	""	"BEST1 c.979del, p.(Gln327Argfs*42)"	"deletion NM_004183.3:c.978del automapped to NM_004183.3:c.979delC"	"Germline"	"yes"	""	"0"	""	""	"g.61959922del"	""	"likely pathogenic"	"ACMG"
"0000824158"	"11"	"70"	"11"	"61727394"	"61727394"	"del"	"0"	"00000"	"BEST1_000237"	"g.61727394del"	""	"{PMID:Rodriguez Munoz 2021:33411470}"	""	"BEST1 c.979del, p.(Gln327Argfs*42)"	"deletion NM_004183.3:c.978del automapped to NM_004183.3:c.979delC"	"Germline"	"yes"	""	"0"	""	""	"g.61959922del"	""	"likely pathogenic"	"ACMG"
"0000824320"	"0"	"70"	"11"	"61719315"	"61719315"	"subst"	"0"	"00000"	"BEST1_000006"	"g.61719315C>T"	""	"{PMID:Pappalardo 2021:33512609}"	""	"BEST1 c.37C>T, p.(Arg13Cys)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951843C>T"	""	"likely pathogenic"	""
"0000824321"	"0"	"70"	"11"	"61719315"	"61719315"	"subst"	"0"	"00000"	"BEST1_000006"	"g.61719315C>T"	""	"{PMID:Pappalardo 2021:33512609}"	""	"BEST1 c.37C>T, p.(Arg13Cys)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951843C>T"	""	"likely pathogenic"	""
"0000824322"	"0"	"70"	"11"	"61719315"	"61719315"	"subst"	"0"	"00000"	"BEST1_000006"	"g.61719315C>T"	""	"{PMID:Pappalardo 2021:33512609}"	""	"BEST1 c.37C>T, p.(Arg13Cys)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951843C>T"	""	"likely pathogenic"	""
"0000824645"	"0"	"50"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Ma 2021:33691693}"	""	"BEST1 c.C584T, p.A195V"	"marked as causative, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61956946C>T"	""	"VUS"	"ACMG"
"0000824754"	"0"	"50"	"11"	"61725666"	"61725666"	"subst"	"5.27893E-5"	"00000"	"BEST1_000063"	"g.61725666C>T"	""	"{PMID:Ma 2021:33691693}"	""	"BEST1 c.C763T, p.R255W"	"marked as causative, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958194C>T"	""	"VUS"	"ACMG"
"0000825508"	"0"	"50"	"11"	"61723304"	"61723304"	"subst"	"2.10793E-5"	"00000"	"BEST1_000134"	"g.61723304G>C"	""	"{PMID:Ng 2021:33846575}"	""	"BEST1 c.362G>C, p.G121A"	"no zygosity and pathogenicity classification indicated"	"Unknown"	"?"	""	"0"	""	""	"g.61955832G>C"	""	"VUS"	""
"0000825509"	"0"	"50"	"11"	"61727452"	"61727452"	"subst"	"5.35257E-5"	"00000"	"BEST1_000064"	"g.61727452C>A"	""	"{PMID:Ng 2021:33846575}"	""	"BEST1 c.1037C>A, p.P346H"	"no zygosity and pathogenicity classification indicated"	"Unknown"	"?"	""	"0"	""	""	"g.61959980C>A"	""	"VUS"	""
"0000825721"	"0"	"70"	"11"	"61727452"	"61727452"	"subst"	"5.35257E-5"	"00000"	"BEST1_000064"	"g.61727452C>A"	""	"{PMID:Liu-2020:33090715}"	""	"c.1037C>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	""
"0000825862"	"0"	"70"	"11"	"61723391"	"61723391"	"subst"	"0"	"00000"	"BEST1_000197"	"g.61723391G>T"	""	"{PMID:Liu-2020:33090715}"	""	"c.449G>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000825863"	"0"	"70"	"11"	"61725733"	"61725733"	"subst"	"8.1215E-6"	"00000"	"BEST1_000165"	"g.61725733C>T"	""	"{PMID:Liu-2020:33090715}"	""	"c.830C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000825948"	"0"	"70"	"11"	"61727452"	"61727452"	"subst"	"5.35257E-5"	"00000"	"BEST1_000064"	"g.61727452C>A"	""	"{PMID:Liu-2020:33090715}"	""	"c.1037C>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	""
"0000825985"	"0"	"70"	"11"	"61723229"	"61723229"	"subst"	"0"	"00000"	"BEST1_000238"	"g.61723229A>T"	""	"{PMID:Liu-2020:33090715}"	""	"c.287A>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	""
"0000826240"	"0"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Liu-2020:33090715}"	""	"c.584C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	""
"0000826262"	"0"	"70"	"11"	"61727452"	"61727452"	"subst"	"5.35257E-5"	"00000"	"BEST1_000064"	"g.61727452C>A"	""	"{PMID:Liu-2020:33090715}"	""	"c.1037C>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	""
"0000826326"	"0"	"70"	"11"	"61725754"	"61725754"	"subst"	"0"	"00000"	"BEST1_000115"	"g.61725754A>G"	""	"{PMID:Liu-2020:33090715}"	""	"c.851A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	""
"0000826372"	"3"	"70"	"11"	"61727485"	"61727485"	"subst"	"0.0013356"	"00000"	"BEST1_000065"	"g.61727485C>T"	""	"{PMID:Liu-2020:33090715}"	""	"c.1070C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000828323"	"0"	"90"	"11"	"61725630"	"61725630"	"subst"	"0"	"00000"	"BEST1_000175"	"g.61725630G>A"	""	"{PMID:Sodi 2021:34240658}"	""	"BEST1 c.727G>A, p.(Ala243Thr)"	""	"Unknown"	"?"	""	"0"	""	""	"g.61958158G>A"	""	"pathogenic"	""
"0000828324"	"0"	"90"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:Sodi 2021:34240658}"	""	"BEST1 c.73C>T, p.(Arg25Trp)"	""	"Unknown"	"?"	""	"0"	""	""	"g.61951879C>T"	""	"pathogenic"	""
"0000828325"	"0"	"90"	"11"	"61725630"	"61725630"	"subst"	"0"	"00000"	"BEST1_000175"	"g.61725630G>A"	""	"{PMID:Sodi 2021:34240658}"	""	"BEST1 c.727G>A, p.(Ala243Thr)"	""	"Unknown"	"?"	""	"0"	""	""	"g.61958158G>A"	""	"pathogenic"	""
"0000828326"	"0"	"90"	"11"	"61725630"	"61725630"	"subst"	"0"	"00000"	"BEST1_000175"	"g.61725630G>A"	""	"{PMID:Sodi 2021:34240658}"	""	"BEST1 c.727G>A, p.(Ala243Thr)"	""	"Unknown"	"?"	""	"0"	""	""	"g.61958158G>A"	""	"pathogenic"	""
"0000828327"	"0"	"90"	"11"	"61725630"	"61725630"	"subst"	"0"	"00000"	"BEST1_000175"	"g.61725630G>A"	""	"{PMID:Sodi 2021:34240658}"	""	"BEST1 c.727G>A, p.(Ala243Thr)"	""	"Unknown"	"?"	""	"0"	""	""	"g.61958158G>A"	""	"pathogenic"	""
"0000828328"	"0"	"50"	"11"	"61729824"	"61729824"	"subst"	"0"	"00000"	"BEST1_000242"	"g.61729824G>C"	""	"{PMID:Sodi 2021:34240658}"	""	"BEST1 c.1198G>C, p.(Asp400His)"	""	"Unknown"	"?"	""	"0"	""	""	"g.61962352G>C"	""	"VUS"	""
"0000828844"	"0"	"70"	"11"	"61719303"	"61719303"	"subst"	"0"	"00000"	"BEST1_000005"	"g.61719303G>A"	""	"{PMID:Chen 2021:43360855}"	""	"BEST1 c.[25G>A];[25=], V1: c.25G>A, (p.Val9Met)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951831G>A"	""	"likely pathogenic"	"ACMG"
"0000828888"	"0"	"70"	"11"	"61722640"	"61722640"	"subst"	"0"	"00000"	"BEST1_000240"	"g.61722640T>C"	""	"{PMID:Chen 2021:43360855}"	""	"BEST1 c.[34T>C];[34=], V1: c.34T>C, (p.Tyr12His)"	"different transcript: ENST00000264448.6(ALMS1):c.10825_10826del, (p.Arg3609AlafsTer6); heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955168T>C"	""	"likely pathogenic"	"ACMG"
"0000828921"	"0"	"70"	"11"	"61719313"	"61719313"	"subst"	"0"	"00000"	"BEST1_000239"	"g.61719313C>A"	""	"{PMID:Chen 2021:43360855}"	""	"BEST1 c.[35C>A];[35=], V1: c.35C>A, (p.Ala12Asp)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951841C>A"	""	"likely pathogenic"	"ACMG"
"0000828931"	"0"	"70"	"11"	"61723420"	"61723420"	"subst"	"0"	"00000"	"BEST1_000241"	"g.61723420G>C"	""	"{PMID:Chen 2021:43360855}"	""	"BEST1 c.[1040C>T];[1040=], V1: c.298G>C, (p.Ala100Pro)"	"different transcript: ENST00000264448.6(ALMS1):c.10825_10826del, (p.Arg3609AlafsTer6); heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955948G>C"	""	"likely pathogenic"	"ACMG"
"0000829768"	"1"	"70"	"11"	"61719278"	"61719431"	"del"	"0"	"00006"	"BEST1_000243"	"g.(?_61719278)_(61719431_61722578)del"	""	"{PMID:Ellingford 2017:28378820}"	""	"g.61719228_61719480del"	""	"Germline"	""	""	"0"	""	""	"g.(?_61951806)_(61951959_61955106)del"	""	"likely pathogenic"	""
"0000839295"	"0"	"70"	"11"	"61723221"	"61723221"	"subst"	"0"	"00000"	"BEST1_000012"	"g.61723221G>C"	"0/100"	"{PMID:Petrukhin 1998:9662395}"	""	"BEST1 G383C, W93C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955749G>C"	""	"likely pathogenic"	""
"0000839296"	"0"	"70"	"11"	"61723221"	"61723221"	"subst"	"0"	"00000"	"BEST1_000012"	"g.61723221G>C"	"0/100"	"{PMID:Petrukhin 1998:9662395}"	""	"BEST1 G383C, W93C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955749G>C"	""	"likely pathogenic"	""
"0000839297"	"21"	"70"	"11"	"61723221"	"61723221"	"subst"	"0"	"00000"	"BEST1_000012"	"g.61723221G>C"	"0/100"	"{PMID:Petrukhin 1998:9662395}"	""	"BEST1 G383C, W93C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955749G>C"	""	"likely pathogenic"	""
"0000839298"	"20"	"70"	"11"	"61723221"	"61723221"	"subst"	"0"	"00000"	"BEST1_000012"	"g.61723221G>C"	"0/100"	"{PMID:Petrukhin 1998:9662395}"	""	"BEST1 G383C, W93C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955749G>C"	""	"likely pathogenic"	""
"0000839299"	"20"	"70"	"11"	"61723221"	"61723221"	"subst"	"0"	"00000"	"BEST1_000012"	"g.61723221G>C"	"0/100"	"{PMID:Petrukhin 1998:9662395}"	""	"BEST1 G383C, W93C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955749G>C"	""	"likely pathogenic"	""
"0000839300"	"11"	"70"	"11"	"61723221"	"61723221"	"subst"	"0"	"00000"	"BEST1_000012"	"g.61723221G>C"	"0/100"	"{PMID:Petrukhin 1998:9662395}"	""	"BEST1 G383C, W93C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955749G>C"	""	"likely pathogenic"	""
"0000839301"	"11"	"70"	"11"	"61723221"	"61723221"	"subst"	"0"	"00000"	"BEST1_000012"	"g.61723221G>C"	"0/100"	"{PMID:Petrukhin 1998:9662395}"	""	"BEST1 G383C, W93C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955749G>C"	""	"likely pathogenic"	""
"0000839302"	"11"	"70"	"11"	"61723221"	"61723221"	"subst"	"0"	"00000"	"BEST1_000012"	"g.61723221G>C"	"0/100"	"{PMID:Petrukhin 1998:9662395}"	""	"BEST1 G383C, W93C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955749G>C"	""	"likely pathogenic"	""
"0000839303"	"11"	"70"	"11"	"61723221"	"61723221"	"subst"	"0"	"00000"	"BEST1_000012"	"g.61723221G>C"	"0/100"	"{PMID:Petrukhin 1998:9662395}"	""	"BEST1 G383C, W93C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955749G>C"	""	"likely pathogenic"	""
"0000839304"	"11"	"70"	"11"	"61723221"	"61723221"	"subst"	"0"	"00000"	"BEST1_000012"	"g.61723221G>C"	"0/100"	"{PMID:Petrukhin 1998:9662395}"	""	"BEST1 G383C, W93C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955749G>C"	""	"likely pathogenic"	""
"0000839305"	"11"	"70"	"11"	"61723221"	"61723221"	"subst"	"0"	"00000"	"BEST1_000012"	"g.61723221G>C"	"0/100"	"{PMID:Petrukhin 1998:9662395}"	""	"BEST1 G383C, W93C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955749G>C"	""	"likely pathogenic"	""
"0000839306"	"11"	"70"	"11"	"61723221"	"61723221"	"subst"	"0"	"00000"	"BEST1_000012"	"g.61723221G>C"	"0/100"	"{PMID:Petrukhin 1998:9662395}"	""	"BEST1 G383C, W93C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955749G>C"	""	"likely pathogenic"	""
"0000839307"	"11"	"70"	"11"	"61723221"	"61723221"	"subst"	"0"	"00000"	"BEST1_000012"	"g.61723221G>C"	"0/100"	"{PMID:Petrukhin 1998:9662395}"	""	"BEST1 G383C, W93C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955749G>C"	""	"likely pathogenic"	""
"0000839308"	"0"	"70"	"11"	"61723195"	"61723195"	"subst"	"0"	"00000"	"BEST1_000186"	"g.61723195T>C"	"0/100"	"{PMID:Petrukhin 1998:9662395}"	""	"BEST1 T357C, Y85H"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955723T>C"	""	"likely pathogenic"	""
"0000839309"	"0"	"70"	"11"	"61723195"	"61723195"	"subst"	"0"	"00000"	"BEST1_000186"	"g.61723195T>C"	"0/100"	"{PMID:Petrukhin 1998:9662395}"	""	"BEST1 T357C, Y85H"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955723T>C"	""	"likely pathogenic"	""
"0000839310"	"0"	"70"	"11"	"61723195"	"61723195"	"subst"	"0"	"00000"	"BEST1_000186"	"g.61723195T>C"	"0/100"	"{PMID:Petrukhin 1998:9662395}"	""	"BEST1 T357C, Y85H"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955723T>C"	""	"likely pathogenic"	""
"0000839311"	"0"	"70"	"11"	"61723195"	"61723195"	"subst"	"0"	"00000"	"BEST1_000186"	"g.61723195T>C"	"0/100"	"{PMID:Petrukhin 1998:9662395}"	""	"BEST1 T357C, Y85H"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955723T>C"	""	"likely pathogenic"	""
"0000839312"	"0"	"70"	"11"	"61723195"	"61723195"	"subst"	"0"	"00000"	"BEST1_000186"	"g.61723195T>C"	"0/100"	"{PMID:Petrukhin 1998:9662395}"	""	"BEST1 T357C, Y85H"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955723T>C"	""	"likely pathogenic"	""
"0000839313"	"0"	"70"	"11"	"61723195"	"61723195"	"subst"	"0"	"00000"	"BEST1_000186"	"g.61723195T>C"	"0/100"	"{PMID:Petrukhin 1998:9662395}"	""	"BEST1 T357C, Y85H"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955723T>C"	""	"likely pathogenic"	""
"0000839314"	"0"	"70"	"11"	"61723195"	"61723195"	"subst"	"0"	"00000"	"BEST1_000186"	"g.61723195T>C"	"0/100"	"{PMID:Petrukhin 1998:9662395}"	""	"BEST1 T357C, Y85H"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955723T>C"	""	"likely pathogenic"	""
"0000839315"	"0"	"70"	"11"	"61726998"	"61726998"	"subst"	"0"	"00000"	"BEST1_000285"	"g.61726998G>A"	"0/48"	"{PMID:Petrukhin 1998:9662395}"	""	"BEST1 G1000A, G299E"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959526G>A"	""	"likely pathogenic"	""
"0000839316"	"0"	"70"	"11"	"61726998"	"61726998"	"subst"	"0"	"00000"	"BEST1_000285"	"g.61726998G>A"	"0/48"	"{PMID:Petrukhin 1998:9662395}"	""	"BEST1 G1000A, G299E"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959526G>A"	""	"likely pathogenic"	""
"0000839317"	"0"	"70"	"11"	"61726998"	"61726998"	"subst"	"0"	"00000"	"BEST1_000285"	"g.61726998G>A"	"0/48"	"{PMID:Petrukhin 1998:9662395}"	""	"BEST1 G1000A, G299E"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959526G>A"	""	"likely pathogenic"	""
"0000839318"	"0"	"70"	"11"	"61726998"	"61726998"	"subst"	"0"	"00000"	"BEST1_000285"	"g.61726998G>A"	"0/48"	"{PMID:Petrukhin 1998:9662395}"	""	"BEST1 G1000A, G299E"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959526G>A"	""	"likely pathogenic"	""
"0000839319"	"21"	"50"	"11"	"61723254"	"61723254"	"subst"	"0"	"00000"	"BEST1_000264"	"g.61723254C>A"	"0/100"	"{PMID:Petrukhin 1998:9662395}"	""	"BEST1 C416A, D104E"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.61955782C>A"	""	"VUS"	""
"0000839320"	"0"	"50"	"11"	"61719304"	"61719304"	"subst"	"0"	"00000"	"BEST1_000244"	"g.61719304T>C"	"0/50"	"{PMID:Petrukhin 1998:9662395}"	""	"BEST1 T130C, V9A"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951832T>C"	""	"VUS"	""
"0000839321"	"0"	"50"	"11"	"61719304"	"61719304"	"subst"	"0"	"00000"	"BEST1_000244"	"g.61719304T>C"	"0/50"	"{PMID:Petrukhin 1998:9662395}"	""	"BEST1 T130C, V9A"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951832T>C"	""	"VUS"	""
"0000839322"	"0"	"50"	"11"	"61722645"	"61722645"	"subst"	"0.204598"	"00000"	"BEST1_000010"	"g.61722645C>A"	""	"{PMID:Petrukhin 1998:9662395}"	""	"BEST1 C323A, I73V"	"error in annotation, a C>A in this position is actually a silent mutation; heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.61955173C>A"	""	"VUS"	""
"0000839323"	"0"	"70"	"11"	"61724901"	"61724901"	"subst"	"0"	"00000"	"BEST1_000022"	"g.61724901T>A"	"0/55"	"{PMID:Petrukhin 1998:9662395}"	""	"BEST1 T783A, Y227N"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957429T>A"	""	"likely pathogenic"	""
"0000839324"	"0"	"70"	"11"	"61724901"	"61724901"	"subst"	"0"	"00000"	"BEST1_000022"	"g.61724901T>A"	"0/55"	"{PMID:Petrukhin 1998:9662395}"	""	"BEST1 T783A, Y227N"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957429T>A"	""	"likely pathogenic"	""
"0000839325"	"21"	"70"	"11"	"61724901"	"61724901"	"subst"	"0"	"00000"	"BEST1_000022"	"g.61724901T>A"	"0/55"	"{PMID:Petrukhin 1998:9662395}"	""	"BEST1 T783A, Y227N"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957429T>A"	""	"likely pathogenic"	""
"0000839326"	"0"	"70"	"11"	"61719294"	"61719294"	"subst"	"0"	"00000"	"BEST1_000004"	"g.61719294A>C"	"0/50"	"{PMID:Petrukhin 1998:9662395}"	""	"BEST1 A120C, T6P"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951822A>C"	""	"likely pathogenic"	""
"0000839327"	"0"	"70"	"11"	"61719294"	"61719294"	"subst"	"0"	"00000"	"BEST1_000004"	"g.61719294A>C"	"0/50"	"{PMID:Petrukhin 1998:9662395}"	""	"BEST1 A120C, T6P"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951822A>C"	""	"likely pathogenic"	""
"0000839328"	"0"	"70"	"11"	"61719294"	"61719294"	"subst"	"0"	"00000"	"BEST1_000004"	"g.61719294A>C"	"0/50"	"{PMID:Petrukhin 1998:9662395}"	""	"BEST1 A120C, T6P"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951822A>C"	""	"likely pathogenic"	""
"0000839329"	"0"	"70"	"11"	"61719294"	"61719294"	"subst"	"0"	"00000"	"BEST1_000004"	"g.61719294A>C"	"0/50"	"{PMID:Petrukhin 1998:9662395}"	""	"BEST1 A120C, T6P"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951822A>C"	""	"likely pathogenic"	""
"0000839330"	"0"	"70"	"11"	"61719294"	"61719294"	"subst"	"0"	"00000"	"BEST1_000004"	"g.61719294A>C"	"0/50"	"{PMID:Petrukhin 1998:9662395}"	""	"BEST1 A120C, T6P"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951822A>C"	""	"likely pathogenic"	""
"0000839331"	"0"	"70"	"11"	"61719294"	"61719294"	"subst"	"0"	"00000"	"BEST1_000004"	"g.61719294A>C"	"0/50"	"{PMID:Petrukhin 1998:9662395}"	""	"BEST1 A120C, T6P"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951822A>C"	""	"likely pathogenic"	""
"0000839332"	"0"	"70"	"11"	"61719294"	"61719294"	"subst"	"0"	"00000"	"BEST1_000004"	"g.61719294A>C"	"0/50"	"{PMID:Petrukhin 1998:9662395}"	""	"BEST1 A120C, T6P"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951822A>C"	""	"likely pathogenic"	""
"0000839333"	"0"	"70"	"11"	"61719294"	"61719294"	"subst"	"0"	"00000"	"BEST1_000004"	"g.61719294A>C"	"0/50"	"{PMID:Petrukhin 1998:9662395}"	""	"BEST1 A120C, T6P"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951822A>C"	""	"likely pathogenic"	""
"0000839334"	"0"	"70"	"11"	"61719294"	"61719294"	"subst"	"0"	"00000"	"BEST1_000004"	"g.61719294A>C"	"0/50"	"{PMID:Petrukhin 1998:9662395}"	""	"BEST1 A120C, T6P"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951822A>C"	""	"likely pathogenic"	""
"0000839335"	"0"	"70"	"11"	"61719294"	"61719294"	"subst"	"0"	"00000"	"BEST1_000004"	"g.61719294A>C"	"0/50"	"{PMID:Petrukhin 1998:9662395}"	""	"BEST1 A120C, T6P"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951822A>C"	""	"likely pathogenic"	""
"0000839336"	"0"	"70"	"11"	"61719294"	"61719294"	"subst"	"0"	"00000"	"BEST1_000004"	"g.61719294A>C"	"0/50"	"{PMID:Petrukhin 1998:9662395}"	""	"BEST1 A120C, T6P"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951822A>C"	""	"likely pathogenic"	""
"0000839338"	"0"	"70"	"11"	"61719303"	"61719303"	"subst"	"0"	"00000"	"BEST1_000005"	"g.61719303G>A"	""	"{PMID:Marquardt 1998:9700209}"	""	"BEST1 GTG->ATG, V9M"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951831G>A"	""	"likely pathogenic"	""
"0000839339"	"0"	"70"	"11"	"61719306"	"61719306"	"subst"	"0"	"00000"	"BEST1_000168"	"g.61719306G>A"	""	"{PMID:Marquardt 1998:9700209}"	""	"BEST1 GCT->ACT, A10T"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951834G>A"	""	"likely pathogenic"	""
"0000839340"	"0"	"70"	"11"	"61719350"	"61719350"	"subst"	"0"	"00000"	"BEST1_000170"	"g.61719350G>T"	""	"{PMID:Marquardt 1998:9700209}"	""	"BEST1 TGG->TGT, W24C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951878G>T"	""	"likely pathogenic"	""
"0000839341"	"0"	"70"	"11"	"61719352"	"61719352"	"subst"	"0"	"00000"	"BEST1_000043"	"g.61719352G>A"	""	"{PMID:Marquardt 1998:9700209}"	""	"BEST1 CGG->CAG, R25Q"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951880G>A"	""	"likely pathogenic"	""
"0000839342"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Marquardt 1998:9700209}"	""	"BEST1 CGT->TGT, R218Q"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000839343"	"0"	"70"	"11"	"61724901"	"61724901"	"subst"	"0"	"00000"	"BEST1_000022"	"g.61724901T>A"	""	"{PMID:Marquardt 1998:9700209}"	""	"BEST1 TAC->AAC, Y227N"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957429T>A"	""	"likely pathogenic"	""
"0000839344"	"0"	"70"	"11"	"61724902"	"61724902"	"subst"	"0"	"00000"	"BEST1_000136"	"g.61724902A>G"	""	"{PMID:Marquardt 1998:9700209}"	""	"BEST1 TAC->TGC, Y227C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957430A>G"	""	"likely pathogenic"	""
"0000839345"	"0"	"70"	"11"	"61724925"	"61724925"	"subst"	"0"	"00000"	"BEST1_000276"	"g.61724925G>A"	""	"{PMID:Marquardt 1998:9700209}"	""	"BEST1 GTG->ATG, V235M"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957453G>A"	""	"likely pathogenic"	""
"0000839346"	"0"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	""	"{PMID:Marquardt 1998:9700209}"	""	"BEST1 delTCA, delI295"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959514_61959516del"	""	"likely pathogenic"	""
"0000839347"	"0"	"70"	"11"	"61726991"	"61726991"	"subst"	"0"	"00000"	"BEST1_000283"	"g.61726991C>G"	""	"{PMID:Marquardt 1998:9700209}"	""	"BEST1 CCC->GCC, P297A"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959519C>G"	""	"likely pathogenic"	""
"0000839348"	"0"	"70"	"11"	"61727016"	"61727016"	"subst"	"0"	"00000"	"BEST1_000291"	"g.61727016T>C"	""	"{PMID:Marquardt 1998:9700209}"	""	"BEST1 TTT->TCT, F305S"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959544T>C"	""	"likely pathogenic"	""
"0000839349"	"1"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	""	"{PMID:Marquardt 1998:9700209}"	""	"BEST1 delTCA, delI295"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959514_61959516del"	""	"likely pathogenic"	""
"0000839350"	"1"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	""	"{PMID:Marquardt 1998:9700209}"	""	"BEST1 delTCA, delI295"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959514_61959516del"	""	"likely pathogenic"	""
"0000839351"	"1"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	""	"{PMID:Marquardt 1998:9700209}"	""	"BEST1 delTCA, delI295"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959514_61959516del"	""	"likely pathogenic"	""
"0000839352"	"1"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	""	"{PMID:Marquardt 1998:9700209}"	""	"BEST1 delTCA, delI295"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959514_61959516del"	""	"likely pathogenic"	""
"0000839353"	"21"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	""	"{PMID:Marquardt 1998:9700209}"	""	"BEST1 delTCA, delI295"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959514_61959516del"	""	"likely pathogenic"	""
"0000839354"	"11"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	""	"{PMID:Marquardt 1998:9700209}"	""	"BEST1 delTCA, delI295"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959514_61959516del"	""	"likely pathogenic"	""
"0000839355"	"11"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	""	"{PMID:Marquardt 1998:9700209}"	""	"BEST1 delTCA, delI295"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959514_61959516del"	""	"likely pathogenic"	""
"0000839356"	"11"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	""	"{PMID:Marquardt 1998:9700209}"	""	"BEST1 delTCA, delI295"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959514_61959516del"	""	"likely pathogenic"	""
"0000839357"	"21"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	""	"{PMID:Marquardt 1998:9700209}"	""	"BEST1 delTCA, delI295"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959514_61959516del"	""	"likely pathogenic"	""
"0000839358"	"21"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	""	"{PMID:Marquardt 1998:9700209}"	""	"BEST1 delTCA, delI295"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959514_61959516del"	""	"likely pathogenic"	""
"0000839367"	"20"	"70"	"11"	"61719316"	"61719316"	"subst"	"1.21997E-5"	"00000"	"BEST1_000246"	"g.61719316G>A"	"0/49 controls"	"{PMID:Caldwell 1999:10331951}"	""	"BEST1 G142A, R13H"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951844G>A"	""	"likely pathogenic"	""
"0000839368"	"0"	"70"	"11"	"61723221"	"61723221"	"subst"	"0"	"00000"	"BEST1_000012"	"g.61723221G>C"	"0/49 controls"	"{PMID:Caldwell 1999:10331951}"	""	"BEST1 G383C, W93C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955749G>C"	""	"likely pathogenic"	""
"0000839369"	"0"	"70"	"11"	"61723221"	"61723221"	"subst"	"0"	"00000"	"BEST1_000012"	"g.61723221G>C"	"0/49 controls"	"{PMID:Caldwell 1999:10331951}"	""	"BEST1 G383C, W93C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955749G>C"	""	"likely pathogenic"	""
"0000839370"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	"0/49 controls"	"{PMID:Caldwell 1999:10331951}"	""	"BEST1 C756T, R218C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000839371"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	"0/49 controls"	"{PMID:Caldwell 1999:10331951}"	""	"BEST1 C756T, R218C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000839372"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	"0/49 controls"	"{PMID:Caldwell 1999:10331951}"	""	"BEST1 C756T, R218C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000839373"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	"0/49 controls"	"{PMID:Caldwell 1999:10331951}"	""	"BEST1 C756T, R218C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000839374"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	"0/49 controls"	"{PMID:Caldwell 1999:10331951}"	""	"BEST1 C756T, R218C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000839375"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	"0/49 controls"	"{PMID:Caldwell 1999:10331951}"	""	"BEST1 C756T, R218C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000839376"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	"0/49 controls"	"{PMID:Caldwell 1999:10331951}"	""	"BEST1 C756T, R218C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000839377"	"0"	"70"	"11"	"61727002"	"61727002"	"subst"	"4.06091E-6"	"00000"	"BEST1_000143"	"g.61727002G>C"	"0/100 controls"	"{PMID:Caldwell 1999:10331951}"	""	"BEST1 G1004C, E300D"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959530G>C"	""	"likely pathogenic"	""
"0000839378"	"0"	"70"	"11"	"61727002"	"61727002"	"subst"	"4.06091E-6"	"00000"	"BEST1_000143"	"g.61727002G>C"	"0/100 controls"	"{PMID:Caldwell 1999:10331951}"	""	"BEST1 G1004C, E300D"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959530G>C"	""	"likely pathogenic"	""
"0000839379"	"0"	"70"	"11"	"61727002"	"61727002"	"subst"	"4.06091E-6"	"00000"	"BEST1_000143"	"g.61727002G>C"	"0/100 controls"	"{PMID:Caldwell 1999:10331951}"	""	"BEST1 G1004C, E300D"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959530G>C"	""	"likely pathogenic"	""
"0000839380"	"0"	"70"	"11"	"61727002"	"61727002"	"subst"	"4.06091E-6"	"00000"	"BEST1_000143"	"g.61727002G>C"	"0/100 controls"	"{PMID:Caldwell 1999:10331951}"	""	"BEST1 G1004C, E300D"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959530G>C"	""	"likely pathogenic"	""
"0000839381"	"0"	"70"	"11"	"61727005"	"61727005"	"subst"	"0"	"00000"	"BEST1_000127"	"g.61727005T>G"	"0/49 controls"	"{PMID:Caldwell 1999:10331951}"	""	"BEST1 T1007G, D301E"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959533T>G"	""	"likely pathogenic"	""
"0000839382"	"0"	"70"	"11"	"61727022"	"61727022"	"subst"	"0"	"00000"	"BEST1_000295"	"g.61727022C>T"	"0/49 controls"	"{PMID:Caldwell 1999:10331951}"	""	"BEST1 C1024T, T307I"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959550C>T"	""	"likely pathogenic"	""
"0000839383"	"0"	"70"	"11"	"61727022"	"61727022"	"subst"	"0"	"00000"	"BEST1_000295"	"g.61727022C>T"	"0/49 controls"	"{PMID:Caldwell 1999:10331951}"	""	"BEST1 C1024T, T307I"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959550C>T"	""	"likely pathogenic"	""
"0000839384"	"0"	"70"	"11"	"61730096"	"61730097"	"del"	"0"	"00000"	"BEST1_000297"	"g.61730096_61730097del"	"0/50 controls"	"{PMID:Caldwell 1999:10331951}"	""	"BEST1 1574delCA, Frameshift"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61962624_61962625del"	""	"likely pathogenic"	""
"0000839386"	"0"	"70"	"11"	"61719307"	"61719307"	"subst"	"0"	"00000"	"BEST1_000098"	"g.61719307C>T"	"0/53 controls"	"{PMID:Bakall 1999:10394929}"	""	"BEST1 C133T, A10V"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951835C>T"	""	"likely pathogenic"	""
"0000839387"	"0"	"70"	"11"	"61722670"	"61722670"	"subst"	"0"	"00000"	"BEST1_000011"	"g.61722670C>G"	"0/50 controls"	"{PMID:Bakall 1999:10394929}"	""	"BEST1 C348G, L82V"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955198C>G"	""	"likely pathogenic"	""
"0000839388"	"0"	"70"	"11"	"61723216"	"61723216"	"subst"	"0"	"00000"	"BEST1_000258"	"g.61723216C>T"	"0/50 controls"	"{PMID:Bakall 1999:10394929}"	""	"BEST1 C378T, R92C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955744C>T"	""	"likely pathogenic"	""
"0000839389"	"0"	"70"	"11"	"61723230"	"61723230"	"subst"	"0"	"00000"	"BEST1_000261"	"g.61723230G>C"	"0/50 controls"	"{PMID:Bakall 1999:10394929}"	""	"BEST1 G392C, Q96H"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955758G>C"	""	"likely pathogenic"	""
"0000839390"	"0"	"70"	"11"	"61723345"	"61723345"	"subst"	"0"	"00000"	"BEST1_000014"	"g.61723345G>A"	"0/50 controls"	"{PMID:Bakall 1999:10394929}"	""	"BEST1 G507A, G135S"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955873G>A"	""	"likely pathogenic"	""
"0000839391"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	"0/50 controls"	"{PMID:Bakall 1999:10394929}"	""	"BEST1 C756T, R218C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000839392"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000162"	"g.61724874C>A"	"0/50 controls"	"{PMID:Bakall 1999:10394929}"	""	"BEST1 C756A, R218S"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>A"	""	"likely pathogenic"	""
"0000839393"	"0"	"70"	"11"	"61726979"	"61726979"	"subst"	"0"	"00000"	"BEST1_000029"	"g.61726979C>A"	"0/50 controls"	"{PMID:Bakall 1999:10394929}"	""	"BEST1 C981A, Q293K"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959507C>A"	""	"likely pathogenic"	""
"0000839404"	"0"	"70"	"11"	"61726991"	"61726991"	"subst"	"4.06105E-6"	"00000"	"BEST1_000030"	"g.61726991C>T"	""	"{PMID:Allikmets 1999:10453731}"	""	"BEST1 993C->T, P297S"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959519C>T"	""	"likely pathogenic"	""
"0000839405"	"0"	"70"	"11"	"61727002"	"61727002"	"subst"	"4.06091E-6"	"00000"	"BEST1_000143"	"g.61727002G>C"	""	"{PMID:Allikmets 1999:10453731}"	""	"BEST1 1004G->C, E300D"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959530G>C"	""	"likely pathogenic"	""
"0000839406"	"0"	"70"	"11"	"61723297"	"61723297"	"subst"	"2.80725E-5"	"00000"	"BEST1_000188"	"g.61723297G>C"	""	"{PMID:Allikmets 1999:10453731}"	""	"BEST1 459G->C, E119Q"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955825G>C"	""	"likely pathogenic"	""
"0000839407"	"0"	"70"	"11"	"61723378"	"61723379"	"delins"	"0"	"00000"	"BEST1_000267"	"g.61723378_61723379delinsAA"	""	"{PMID:Allikmets 1999:10453731}"	""	"BEST1 540GC->AA, A146K"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955906_61955907delinsAA"	""	"likely pathogenic"	""
"0000839408"	"0"	"70"	"11"	"61724869"	"61724869"	"subst"	"3.24852E-5"	"00000"	"BEST1_000271"	"g.61724869C>T"	""	"{PMID:Allikmets 1999:10453731}"	""	"BEST1 751C->T , T216I"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957397C>T"	""	"likely pathogenic"	""
"0000839409"	"0"	"50"	"11"	"61730325"	"61730325"	"subst"	"0.000446668"	"00000"	"BEST1_000001"	"g.61730325C>T"	""	"{PMID:Allikmets 1999:10453731}"	""	"BEST1 1803C->T, L567F"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61962853C>T"	""	"VUS"	""
"0000839410"	"0"	"50"	"11"	"61730325"	"61730325"	"subst"	"0.000446668"	"00000"	"BEST1_000001"	"g.61730325C>T"	""	"{PMID:Allikmets 1999:10453731}"	""	"BEST1 1803C->T, L567F"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61962853C>T"	""	"VUS"	""
"0000839411"	"0"	"70"	"11"	"61724885"	"61724885"	"subst"	"0"	"00000"	"BEST1_000272"	"g.61724885T>G"	""	"{PMID:Palomba 2000:10682987}"	""	"BEST1 T to G transition at nucleotide 663, C221W"	"heterozygous; maternity and paternity confirmed"	"De novo"	"?"	""	"0"	""	""	"g.61957413T>G"	""	"likely pathogenic"	""
"0000839414"	"0"	"70"	"11"	"61719295"	"61719295"	"subst"	"0"	"00000"	"BEST1_000084"	"g.61719295C>G"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 ACA-AGA, Thr6Arg"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951823C>G"	""	"likely pathogenic"	""
"0000839415"	"0"	"70"	"11"	"61719350"	"61719350"	"subst"	"0"	"00000"	"BEST1_000170"	"g.61719350G>T"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 TGG-TGT, Trp24Cys"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951878G>T"	""	"likely pathogenic"	""
"0000839416"	"0"	"70"	"11"	"61723214"	"61723214"	"subst"	"0"	"00000"	"BEST1_000257"	"g.61723214C>T"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 ACC-ATC, Thr91Ile"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955742C>T"	""	"likely pathogenic"	""
"0000839417"	"0"	"70"	"11"	"61723243"	"61723243"	"subst"	"0"	"00000"	"BEST1_000187"	"g.61723243C>A"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 CCG-ACG, Pro101Thr"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955771C>A"	""	"likely pathogenic"	""
"0000839418"	"0"	"70"	"11"	"61724436"	"61724436"	"subst"	"6.50042E-5"	"00000"	"BEST1_000212"	"g.61724436T>C"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 ATC-ACC, Ile201Thr"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61956964T>C"	""	"likely pathogenic"	""
"0000839419"	"0"	"70"	"11"	"61724887"	"61724887"	"subst"	"0"	"00000"	"BEST1_000106"	"g.61724887G>T"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 GGA-GTA, Gly222Val"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957415G>T"	""	"likely pathogenic"	""
"0000839420"	"0"	"70"	"11"	"61724893"	"61724893"	"subst"	"0"	"00000"	"BEST1_000095"	"g.61724893T>C"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 CTG-CCG, Leu224Pro"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957421T>C"	""	"likely pathogenic"	""
"0000839421"	"0"	"70"	"11"	"61724902"	"61724902"	"subst"	"0"	"00000"	"BEST1_000136"	"g.61724902A>G"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 TAC-TGC, Tyr227Cys"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957430A>G"	""	"likely pathogenic"	""
"0000839422"	"0"	"70"	"11"	"61726988"	"61726988"	"subst"	"0"	"00000"	"BEST1_000282"	"g.61726988A>C"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 AAC-CAC, Asn296His"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959516A>C"	""	"likely pathogenic"	""
"0000839423"	"0"	"70"	"11"	"61726991"	"61726991"	"subst"	"0"	"00000"	"BEST1_000283"	"g.61726991C>G"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 CCC-GCC, Pro297Ala"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959519C>G"	""	"likely pathogenic"	""
"0000839424"	"0"	"70"	"11"	"61727007"	"61727007"	"subst"	"0"	"00000"	"BEST1_000288"	"g.61727007A>G"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 GAT-GGT, Asp302Gly"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959535A>G"	""	"likely pathogenic"	""
"0000839425"	"0"	"70"	"11"	"61727007"	"61727007"	"subst"	"0"	"00000"	"BEST1_000289"	"g.61727007A>T"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 GAT-GTT, Asp302Val"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959535A>T"	""	"likely pathogenic"	""
"0000839426"	"0"	"70"	"11"	"61727019"	"61727019"	"subst"	"0"	"00000"	"BEST1_000292"	"g.61727019A>G"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 GAG-GGG, Glu306Gly"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959547A>G"	""	"likely pathogenic"	""
"0000839427"	"0"	"70"	"11"	"61727020"	"61727020"	"subst"	"0"	"00000"	"BEST1_000293"	"g.61727020G>C"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 GAG-GAC, Glu306Asp"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959548G>C"	""	"likely pathogenic"	""
"0000839428"	"0"	"70"	"11"	"61727021"	"61727021"	"subst"	"0"	"00000"	"BEST1_000294"	"g.61727021A>G"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 ACC-GCC, Thr307Ala"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959549A>G"	""	"likely pathogenic"	""
"0000839429"	"0"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 GCG-GTG, Ala195Val"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic"	""
"0000839430"	"0"	"70"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 CGT-CAT, Arg218His"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957403G>A"	""	"likely pathogenic"	""
"0000839431"	"0"	"70"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 CGT-CAT, Arg218His"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957403G>A"	""	"likely pathogenic"	""
"0000839432"	"0"	"70"	"11"	"61724453"	"61724453"	"subst"	"0.00366987"	"00000"	"BEST1_000179"	"g.61724453C>A"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 GTC-ATC, Leu207Ile"	"error in sequence, it is CTC-ATC and not GTC-ATC; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61956981C>A"	""	"likely pathogenic"	""
"0000839433"	"0"	"70"	"11"	"61724453"	"61724453"	"subst"	"0.00366987"	"00000"	"BEST1_000179"	"g.61724453C>A"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 GTC-ATC, Leu207Ile"	"error in sequence, it is CTC-ATC and not GTC-ATC; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61956981C>A"	""	"likely pathogenic"	""
"0000839434"	"0"	"70"	"11"	"61724453"	"61724453"	"subst"	"0.00366987"	"00000"	"BEST1_000179"	"g.61724453C>A"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 GTC-ATC, Leu207Ile"	"error in sequence, it is CTC-ATC and not GTC-ATC; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61956981C>A"	""	"likely pathogenic"	""
"0000839435"	"0"	"70"	"11"	"61724453"	"61724453"	"subst"	"0.00366987"	"00000"	"BEST1_000179"	"g.61724453C>A"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 GTC-ATC, Leu207Ile"	"error in sequence, it is CTC-ATC and not GTC-ATC; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61956981C>A"	""	"likely pathogenic"	""
"0000839436"	"0"	"70"	"11"	"61724453"	"61724453"	"subst"	"0.00366987"	"00000"	"BEST1_000179"	"g.61724453C>A"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 GTC-ATC, Leu207Ile"	"error in sequence, it is CTC-ATC and not GTC-ATC; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61956981C>A"	""	"likely pathogenic"	""
"0000839437"	"0"	"70"	"11"	"61724901"	"61724901"	"subst"	"0"	"00000"	"BEST1_000022"	"g.61724901T>A"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 TAC-AAC, Tyr227Asn"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957429T>A"	""	"likely pathogenic"	""
"0000839438"	"0"	"70"	"11"	"61724901"	"61724901"	"subst"	"0"	"00000"	"BEST1_000022"	"g.61724901T>A"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 TAC-AAC, Tyr227Asn"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957429T>A"	""	"likely pathogenic"	""
"0000839439"	"0"	"70"	"11"	"61725630"	"61725630"	"subst"	"0"	"00000"	"BEST1_000175"	"g.61725630G>A"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 GCG-ACG, Ala243Thr"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958158G>A"	""	"likely pathogenic"	""
"0000839440"	"0"	"70"	"11"	"61725630"	"61725630"	"subst"	"0"	"00000"	"BEST1_000175"	"g.61725630G>A"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 GCG-ACG, Ala243Thr"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958158G>A"	""	"likely pathogenic"	""
"0000839441"	"0"	"70"	"11"	"61727022"	"61727022"	"subst"	"0"	"00000"	"BEST1_000295"	"g.61727022C>T"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 ACC-ATC, Thr307Ile"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959550C>T"	""	"likely pathogenic"	""
"0000839442"	"0"	"70"	"11"	"61727022"	"61727022"	"subst"	"0"	"00000"	"BEST1_000295"	"g.61727022C>T"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 ACC-ATC, Thr307Ile"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959550C>T"	""	"likely pathogenic"	""
"0000839443"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 CGT-TGT, Arg218Cys"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000839444"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 CGT-TGT, Arg218Cys"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000839445"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 CGT-TGT, Arg218Cys"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000839446"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 CGT-TGT, Arg218Cys"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000839447"	"0"	"70"	"11"	"61719367"	"61719367"	"subst"	"4.06918E-6"	"00000"	"BEST1_000099"	"g.61719367A>G"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 AAG-AGG, Lys30Arg"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951895A>G"	""	"likely pathogenic"	""
"0000839448"	"0"	"70"	"11"	"61719367"	"61719367"	"subst"	"4.06918E-6"	"00000"	"BEST1_000099"	"g.61719367A>G"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 AAG-AGG, Lys30Arg"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951895A>G"	""	"likely pathogenic"	""
"0000839449"	"0"	"70"	"11"	"61719367"	"61719367"	"subst"	"4.06918E-6"	"00000"	"BEST1_000099"	"g.61719367A>G"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 AAG-AGG, Lys30Arg"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951895A>G"	""	"likely pathogenic"	""
"0000839450"	"0"	"70"	"11"	"61727002"	"61727002"	"subst"	"4.06091E-6"	"00000"	"BEST1_000143"	"g.61727002G>C"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 GAG-GAC, Glu300Asp"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959530G>C"	""	"likely pathogenic"	""
"0000839451"	"0"	"70"	"11"	"61727002"	"61727002"	"subst"	"4.06091E-6"	"00000"	"BEST1_000143"	"g.61727002G>C"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 GAG-GAC, Glu300Asp"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959530G>C"	""	"likely pathogenic"	""
"0000839452"	"0"	"70"	"11"	"61727002"	"61727002"	"subst"	"4.06091E-6"	"00000"	"BEST1_000143"	"g.61727002G>C"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 GAG-GAC, Glu300Asp"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959530G>C"	""	"likely pathogenic"	""
"0000839453"	"0"	"70"	"11"	"61727002"	"61727002"	"subst"	"4.06091E-6"	"00000"	"BEST1_000143"	"g.61727002G>C"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 GAG-GAC, Glu300Asp"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959530G>C"	""	"likely pathogenic"	""
"0000839454"	"0"	"70"	"11"	"61727002"	"61727002"	"subst"	"4.06091E-6"	"00000"	"BEST1_000143"	"g.61727002G>C"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 GAG-GAC, Glu300Asp"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959530G>C"	""	"likely pathogenic"	""
"0000839455"	"0"	"70"	"11"	"61727002"	"61727002"	"subst"	"4.06091E-6"	"00000"	"BEST1_000143"	"g.61727002G>C"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 GAG-GAC, Glu300Asp"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959530G>C"	""	"likely pathogenic"	""
"0000839456"	"0"	"70"	"11"	"61723387"	"61723387"	"subst"	"0"	"00000"	"BEST1_000268"	"g.61723387A>T"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 AAG-TAG, Lys149Stop"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955915A>T"	""	"likely pathogenic"	""
"0000839457"	"0"	"70"	"11"	"61723387"	"61723387"	"subst"	"0"	"00000"	"BEST1_000268"	"g.61723387A>T"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 AAG-TAG, Lys149Stop"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955915A>T"	""	"likely pathogenic"	""
"0000839458"	"0"	"70"	"11"	"61723255"	"61723255"	"subst"	"0"	"00000"	"BEST1_000265"	"g.61723255C>T"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 CGC-TGC, Arg105Cys"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955783C>T"	""	"likely pathogenic"	""
"0000839459"	"0"	"70"	"11"	"61723297"	"61723297"	"subst"	"2.80725E-5"	"00000"	"BEST1_000188"	"g.61723297G>C"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 GAG-CAG, Glu119Gln"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955825G>C"	""	"likely pathogenic"	""
"0000839460"	"0"	"70"	"11"	"61725726"	"61725726"	"subst"	"5.68505E-5"	"00000"	"BEST1_000280"	"g.61725726G>A"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 GTC-ATC, Val275Ile"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958254G>A"	""	"likely pathogenic"	""
"0000839461"	"0"	"70"	"11"	"61719328"	"61719328"	"subst"	"0"	"00000"	"BEST1_000247"	"g.61719328T>G"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 TTC-TGC, Phe17Cys"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951856T>G"	""	"likely pathogenic"	""
"0000839462"	"0"	"70"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 CGG-TGG, Arg25Trp"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951879C>T"	""	"likely pathogenic"	""
"0000839463"	"0"	"70"	"11"	"61722666"	"61722666"	"subst"	"0"	"00000"	"BEST1_000171"	"g.61722666C>A"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 TTC-TTA, Phe80Leu"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955194C>A"	""	"likely pathogenic"	""
"0000839464"	"0"	"70"	"11"	"61723341"	"61723341"	"subst"	"0"	"00000"	"BEST1_000135"	"g.61723341C>G"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 AAC-AAG, Asn133Lys"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955869C>G"	""	"likely pathogenic"	""
"0000839465"	"0"	"70"	"11"	"61723345"	"61723345"	"subst"	"0"	"00000"	"BEST1_000014"	"g.61723345G>A"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 GGC-AGC, Gly135Ser"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955873G>A"	""	"likely pathogenic"	""
"0000839466"	"0"	"70"	"11"	"61723361"	"61723361"	"subst"	"0"	"00000"	"BEST1_000266"	"g.61723361T>G"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 CTG-CGG, Leu140Arg"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955889T>G"	""	"likely pathogenic"	""
"0000839467"	"0"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 CGC-CAC, Arg141His"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic"	""
"0000839468"	"0"	"70"	"11"	"61724436"	"61724436"	"subst"	"0"	"00000"	"BEST1_000212"	"g.(61724436T>C)"	""	"{PMID:Lotery 2000:10798642}"	""	"ATC-ACC (Ile211Thr)"	""	"Unknown"	"?"	""	"0"	""	""	"g.(61956964T>C)"	""	"likely pathogenic"	""
"0000839469"	"0"	"70"	"11"	"61725731"	"61725731"	"subst"	"0"	"00000"	"BEST1_000281"	"g.61725731C>G"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 TTC-TTG, Phe276Leu"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958259C>G"	""	"likely pathogenic"	""
"0000839470"	"0"	"70"	"11"	"61725751"	"61725753"	"del"	"0"	"00000"	"BEST1_000053"	"g.61725751_61725753del"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 DelTTC, Del281Phe"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958279_61958281del"	""	"likely pathogenic"	""
"0000839471"	"0"	"70"	"11"	"61727012"	"61727014"	"del"	"0"	"00000"	"BEST1_000034"	"g.61727012_61727014del"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 DelGAT, DelAsp301"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959540_61959542del"	""	"likely pathogenic"	""
"0000839472"	"0"	"70"	"11"	"61727012"	"61727014"	"del"	"0"	"00000"	"BEST1_000034"	"g.61727012_61727014del"	""	"{PMID:Lotery 2000:10798642}"	""	"BEST1 DelGAT, DelAsp301"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959540_61959542del"	""	"likely pathogenic"	""
"0000839473"	"0"	"70"	"11"	"61719294"	"61719294"	"subst"	"0"	"00000"	"BEST1_000004"	"g.61719294A>C"	""	"{PMID:Kramer 2000:10854112}"	""	"BEST1 A16C, T6P"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951822A>C"	""	"likely pathogenic"	""
"0000839474"	"0"	"70"	"11"	"61719303"	"61719303"	"subst"	"0"	"00000"	"BEST1_000005"	"g.61719303G>A"	""	"{PMID:Kramer 2000:10854112}"	""	"BEST1 G25A, V9M"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951831G>A"	""	"likely pathogenic"	""
"0000839475"	"0"	"70"	"11"	"61719306"	"61719306"	"subst"	"0"	"00000"	"BEST1_000168"	"g.61719306G>A"	""	"{PMID:Kramer 2000:10854112}"	""	"BEST1 G28A, A10T"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951834G>A"	""	"likely pathogenic"	""
"0000839476"	"1"	"70"	"11"	"61719339"	"61719339"	"subst"	"0"	"00000"	"BEST1_000248"	"g.61719339C>G"	""	"{PMID:Kramer 2000:10854112}"	""	"BEST1 C61G, L21V"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951867C>G"	""	"likely pathogenic"	""
"0000839477"	"1"	"70"	"11"	"61724460"	"61724460"	"subst"	"0"	"00000"	"BEST1_000270"	"g.61724460G>A"	""	"{PMID:Kramer 2000:10854112}"	""	"BEST1 G626A, S209N"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956988G>A"	""	"likely pathogenic"	""
"0000839478"	"1"	"70"	"11"	"61719339"	"61719339"	"subst"	"0"	"00000"	"BEST1_000248"	"g.61719339C>G"	""	"{PMID:Kramer 2000:10854112}"	""	"BEST1 C61G, L21V"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951867C>G"	""	"likely pathogenic"	""
"0000839479"	"1"	"70"	"11"	"61724460"	"61724460"	"subst"	"0"	"00000"	"BEST1_000270"	"g.61724460G>A"	""	"{PMID:Kramer 2000:10854112}"	""	"BEST1 G636C, S209N"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956988G>A"	""	"likely pathogenic"	""
"0000839480"	"0"	"70"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:Kramer 2000:10854112}"	""	"BEST1 C73T, R25W"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951879C>T"	""	"likely pathogenic"	""
"0000839481"	"0"	"70"	"11"	"61719359"	"61719359"	"subst"	"0"	"00000"	"BEST1_000250"	"g.61719359C>G"	""	"{PMID:Kramer 2000:10854112}"	""	"BEST1 C81G, S27R"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951887C>G"	""	"likely pathogenic"	""
"0000839482"	"0"	"70"	"11"	"61719418"	"61719418"	"subst"	"1.62631E-5"	"00000"	"BEST1_000196"	"g.61719418G>A"	""	"{PMID:Kramer 2000:10854112}"	""	"BEST1 G140A, R47H"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951946G>A"	""	"likely pathogenic"	""
"0000839483"	"0"	"70"	"11"	"61722602"	"61722602"	"subst"	"0"	"00000"	"BEST1_000255"	"g.61722602A>T"	""	"{PMID:Kramer 2000:10854112}"	""	"BEST1 A176T, Q58L"	"error in annotation, 58th amino acid is Leu and not Gln - nucleotide change indicates p.Gln59Leu; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955130A>T"	""	"likely pathogenic"	""
"0000839484"	"0"	"70"	"11"	"61723216"	"61723216"	"subst"	"0"	"00000"	"BEST1_000259"	"g.61723216C>A"	""	"{PMID:Kramer 2000:10854112}"	""	"BEST1 C274A, R92S"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955744C>A"	""	"likely pathogenic"	""
"0000839485"	"0"	"70"	"11"	"61723239"	"61723239"	"subst"	"0"	"00000"	"BEST1_000262"	"g.61723239C>A"	""	"{PMID:Kramer 2000:10854112}"	""	"BEST1 C297A, N99K"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955767C>A"	""	"likely pathogenic"	""
"0000839486"	"0"	"70"	"11"	"61723239"	"61723239"	"subst"	"0"	"00000"	"BEST1_000262"	"g.61723239C>A"	""	"{PMID:Kramer 2000:10854112}"	""	"BEST1 C297A, N99K"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955767C>A"	""	"likely pathogenic"	""
"0000839487"	"0"	"70"	"11"	"61723241"	"61723241"	"subst"	"0"	"00000"	"BEST1_000123"	"g.61723241T>G"	""	"{PMID:Kramer 2000:10854112}"	""	"BEST1 T299G, L100R"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955769T>G"	""	"likely pathogenic"	""
"0000839488"	"0"	"70"	"11"	"61723241"	"61723241"	"subst"	"0"	"00000"	"BEST1_000123"	"g.61723241T>G"	""	"{PMID:Kramer 2000:10854112}"	""	"BEST1 T299G, L100R"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955769T>G"	""	"likely pathogenic"	""
"0000839489"	"0"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Kramer 2000:10854112}"	""	"BEST1 G422A, R141"	"error in annotation, mutated amino acid missing; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic"	""
"0000839490"	"0"	"70"	"11"	"61724369"	"61724369"	"subst"	"0"	"00000"	"BEST1_000269"	"g.61724369A>C"	""	"{PMID:Kramer 2000:10854112}"	""	"BEST1 G626A, unknown"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61956897A>C"	""	"likely pathogenic"	""
"0000839491"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000162"	"g.61724874C>A"	""	"{PMID:Kramer 2000:10854112}"	""	"BEST1 C652A, R218S"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957402C>A"	""	"likely pathogenic"	""
"0000839492"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000162"	"g.61724874C>A"	""	"{PMID:Kramer 2000:10854112}"	""	"BEST1 C652A, R218S"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957402C>A"	""	"likely pathogenic"	""
"0000839493"	"0"	"70"	"11"	"61724892"	"61724892"	"subst"	"0"	"00000"	"BEST1_000146"	"g.61724892C>A"	""	"{PMID:Kramer 2000:10854112}"	""	"BEST1 C670A, L224M"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957420C>A"	""	"likely pathogenic"	""
"0000839494"	"0"	"70"	"11"	"61724892"	"61724892"	"subst"	"0"	"00000"	"BEST1_000146"	"g.61724892C>A"	""	"{PMID:Kramer 2000:10854112}"	""	"BEST1 C670A, L224M"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957420C>A"	""	"likely pathogenic"	""
"0000839495"	"1"	"70"	"11"	"61724915"	"61724915"	"subst"	"0"	"00000"	"BEST1_000274"	"g.61724915T>G"	""	"{PMID:Kramer 2000:10854112}"	""	"BEST1 T693G, S231R"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957443T>G"	""	"likely pathogenic"	""
"0000839496"	"0"	"70"	"11"	"61724932"	"61724932"	"subst"	"0"	"00000"	"BEST1_000278"	"g.61724932C>G"	""	"{PMID:Kramer 2000:10854112}"	""	"BEST1 C710G, T237R"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957460C>G"	""	"likely pathogenic"	""
"0000839497"	"0"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Kramer 2000:10854112}"	""	"BEST1 C728T, A243V"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958159C>T"	""	"likely pathogenic"	""
"0000839498"	"0"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Kramer 2000:10854112}"	""	"BEST1 C728T, A243V"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958159C>T"	""	"likely pathogenic"	""
"0000839499"	"0"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Kramer 2000:10854112}"	""	"BEST1 C728T, A243V"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958159C>T"	""	"likely pathogenic"	""
"0000839500"	"0"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Kramer 2000:10854112}"	""	"BEST1 C728T, A243V"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958159C>T"	""	"likely pathogenic"	""
"0000839501"	"0"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Kramer 2000:10854112}"	""	"BEST1 C728T, A243V"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958159C>T"	""	"likely pathogenic"	""
"0000839502"	"0"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Kramer 2000:10854112}"	""	"BEST1 C728T, A243V"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958159C>T"	""	"likely pathogenic"	""
"0000839503"	"0"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Kramer 2000:10854112}"	""	"BEST1 C728T, A243V"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958159C>T"	""	"likely pathogenic"	""
"0000839504"	"0"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Kramer 2000:10854112}"	""	"BEST1 C728T, A243V"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958159C>T"	""	"likely pathogenic"	""
"0000839505"	"0"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	""	"{PMID:Kramer 2000:10854112}"	""	"BEST1 TCAdel, I295del"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959514_61959516del"	""	"likely pathogenic"	""
"0000839506"	"0"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	""	"{PMID:Kramer 2000:10854112}"	""	"BEST1 TCAdel, I295del"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959514_61959516del"	""	"likely pathogenic"	""
"0000839507"	"0"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	""	"{PMID:Kramer 2000:10854112}"	""	"BEST1 TCAdel, I295del"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959514_61959516del"	""	"likely pathogenic"	""
"0000839508"	"0"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	""	"{PMID:Kramer 2000:10854112}"	""	"BEST1 TCAdel, I295del"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959514_61959516del"	""	"likely pathogenic"	""
"0000839509"	"0"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	""	"{PMID:Kramer 2000:10854112}"	""	"BEST1 TCAdel, I295del"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959514_61959516del"	""	"likely pathogenic"	""
"0000839510"	"1"	"70"	"11"	"61727000"	"61727000"	"subst"	"0"	"00000"	"BEST1_000142"	"g.61727000G>A"	""	"{PMID:Kramer 2000:10854112}"	""	"BEST1 G898A, E300K"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959528G>A"	""	"likely pathogenic"	""
"0000839511"	"0"	"70"	"11"	"61727003"	"61727003"	"subst"	"0"	"00000"	"BEST1_000286"	"g.61727003G>A"	""	"{PMID:Kramer 2000:10854112}"	""	"BEST1 G901A, D301N"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959531G>A"	""	"likely pathogenic"	""
"0000839512"	"1"	"70"	"11"	"61727005"	"61727005"	"subst"	"0"	"00000"	"BEST1_000127"	"g.61727005T>G"	""	"{PMID:Kramer 2000:10854112}"	""	"BEST1 T903G, D301E"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959533T>G"	""	"likely pathogenic"	""
"0000839513"	"0"	"70"	"11"	"61727005"	"61727005"	"subst"	"0"	"00000"	"BEST1_000127"	"g.61727005T>G"	""	"{PMID:Kramer 2000:10854112}"	""	"BEST1 T903G, D301E"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959533T>G"	""	"likely pathogenic"	""
"0000839514"	"1"	"70"	"11"	"61727031"	"61727031"	"subst"	"0"	"00000"	"BEST1_000035"	"g.61727031T>C"	""	"{PMID:Kramer 2000:10854112}"	""	"BEST1 T929C, I310T"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959559T>C"	""	"likely pathogenic"	""
"0000839515"	"0"	"70"	"11"	"61727034"	"61727034"	"subst"	"0"	"00000"	"BEST1_000233"	"g.61727034T>G"	""	"{PMID:Kramer 2000:10854112}"	""	"BEST1 T932G, V311G"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959562T>G"	""	"likely pathogenic"	""
"0000839516"	"1"	"70"	"11"	"61727034"	"61727034"	"subst"	"0"	"00000"	"BEST1_000233"	"g.61727034T>G"	""	"{PMID:Kramer 2000:10854112}"	""	"BEST1 T932G, V311G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959562T>G"	""	"likely pathogenic"	""
"0000839517"	"0"	"70"	"11"	"61727036"	"61727036"	"subst"	"4.87369E-5"	"00000"	"BEST1_000036"	"g.61727036G>A"	""	"{PMID:Kramer 2000:10854112}"	""	"BEST1 G934A, D312N"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959564G>A"	""	"likely pathogenic"	""
"0000839518"	"0"	"70"	"11"	"61719325"	"61719325"	"subst"	"0"	"00000"	"BEST1_000169"	"g.61719325C>T"	""	"{PMID:Marchant 2001:11241846}"	""	"BEST1 151C>T, S16F"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951853C>T"	""	"likely pathogenic"	""
"0000839519"	"0"	"70"	"11"	"61719325"	"61719325"	"subst"	"0"	"00000"	"BEST1_000169"	"g.61719325C>T"	""	"{PMID:Marchant 2001:11241846}"	""	"BEST1 151C>T, S16F"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951853C>T"	""	"likely pathogenic"	""
"0000839520"	"0"	"70"	"11"	"61719325"	"61719325"	"subst"	"0"	"00000"	"BEST1_000169"	"g.61719325C>T"	""	"{PMID:Marchant 2001:11241846}"	""	"BEST1 151C>T, S16F"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951853C>T"	""	"likely pathogenic"	""
"0000839521"	"0"	"70"	"11"	"61719325"	"61719325"	"subst"	"0"	"00000"	"BEST1_000169"	"g.61719325C>T"	""	"{PMID:Marchant 2001:11241846}"	""	"BEST1 151C>T, S16F"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951853C>T"	""	"likely pathogenic"	""
"0000839522"	"0"	"70"	"11"	"61719328"	"61719328"	"subst"	"0"	"00000"	"BEST1_000247"	"g.61719328T>G"	""	"{PMID:Marchant 2001:11241846}"	""	"BEST1 154T>G, F17C"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951856T>G"	""	"likely pathogenic"	""
"0000839523"	"0"	"70"	"11"	"61722644"	"61722644"	"subst"	"0"	"00000"	"BEST1_000100"	"g.61722644T>A"	""	"{PMID:Marchant 2001:11241846}"	""	"BEST1 322T>A, I73N"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955172T>A"	""	"likely pathogenic"	""
"0000839524"	"0"	"70"	"11"	"61723217"	"61723217"	"subst"	"0"	"00000"	"BEST1_000260"	"g.61723217G>A"	""	"{PMID:Marchant 2001:11241846}"	""	"BEST1 379G>A, R92H"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955745G>A"	""	"likely pathogenic"	""
"0000839525"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Marchant 2001:11241846}"	""	"BEST1 756C>T, R218C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000839526"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Marchant 2001:11241846}"	""	"BEST1 756C>T, R218C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000839527"	"0"	"70"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Marchant 2001:11241846}"	""	"BEST1 757G>A, R218H"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957403G>A"	""	"likely pathogenic"	""
"0000839528"	"0"	"70"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Marchant 2001:11241846}"	""	"BEST1 757G>A, R218H"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957403G>A"	""	"likely pathogenic"	""
"0000839529"	"0"	"70"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Marchant 2001:11241846}"	""	"BEST1 757G>A, R218H"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957403G>A"	""	"likely pathogenic"	""
"0000839530"	"0"	"70"	"11"	"61724925"	"61724925"	"subst"	"0"	"00000"	"BEST1_000277"	"g.61724925G>C"	""	"{PMID:Marchant 2001:11241846}"	""	"BEST1 807G>C, V235L"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957453G>C"	""	"likely pathogenic"	""
"0000839531"	"0"	"70"	"11"	"61726989"	"61726989"	"subst"	"0"	"00000"	"BEST1_000109"	"g.61726989A>G"	""	"{PMID:Marchant 2001:11241846}"	""	"BEST1 991A>G, N296S"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959517A>G"	""	"likely pathogenic"	""
"0000839532"	"0"	"70"	"11"	"61726989"	"61726989"	"subst"	"0"	"00000"	"BEST1_000109"	"g.61726989A>G"	""	"{PMID:Marchant 2001:11241846}"	""	"BEST1 991A>G, N296S"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959517A>G"	""	"likely pathogenic"	""
"0000839534"	"0"	"70"	"11"	"61723208"	"61723208"	"subst"	"0"	"00000"	"BEST1_000256"	"g.61723208T>C"	""	"{PMID:Eksandh 2001:11449320}"	""	"T-to-C substitution at position 370 in the VMD2 gene, Val89Ala"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955736T>C"	""	"likely pathogenic"	""
"0000839535"	"0"	"70"	"11"	"61723208"	"61723208"	"subst"	"0"	"00000"	"BEST1_000256"	"g.61723208T>C"	""	"{PMID:Eksandh 2001:11449320}"	""	"T-to-C substitution at position 370 in the VMD2 gene, Val89Ala"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955736T>C"	""	"likely pathogenic"	""
"0000839536"	"0"	"70"	"11"	"61723208"	"61723208"	"subst"	"0"	"00000"	"BEST1_000256"	"g.61723208T>C"	""	"{PMID:Eksandh 2001:11449320}"	""	"T-to-C substitution at position 370 in the VMD2 gene, Val89Ala"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955736T>C"	""	"likely pathogenic"	""
"0000839537"	"11"	"70"	"11"	"61723208"	"61723208"	"subst"	"0"	"00000"	"BEST1_000256"	"g.61723208T>C"	""	"{PMID:Eksandh 2001:11449320}"	""	"T-to-C substitution at position 370 in the VMD2 gene, Val89Ala"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955736T>C"	""	"likely pathogenic"	""
"0000839538"	"21"	"70"	"11"	"61723208"	"61723208"	"subst"	"0"	"00000"	"BEST1_000256"	"g.61723208T>C"	""	"{PMID:Eksandh 2001:11449320}"	""	"T-to-C substitution at position 370 in the VMD2 gene, Val89Ala"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955736T>C"	""	"likely pathogenic"	""
"0000839539"	"0"	"70"	"11"	"61724869"	"61724869"	"subst"	"3.24852E-5"	"00000"	"BEST1_000271"	"g.61724869C>T"	""	"{PMID:Seddon 2001:11713080}"	""	"751C > T variant in exon 6 of the VMD2 gene, resulting in a T216I mutation"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957397C>T"	""	"likely pathogenic"	""
"0000839540"	"0"	"50"	"11"	"61730325"	"61730325"	"subst"	"0.000446668"	"00000"	"BEST1_000001"	"g.61730325C>T"	""	"{PMID:Seddon 2001:11713080}"	""	"1803C > T (L567F) variant in exon 10 of the VMD2"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61962853C>T"	""	"VUS"	""
"0000839541"	"0"	"50"	"11"	"61730325"	"61730325"	"subst"	"0.000446668"	"00000"	"BEST1_000001"	"g.61730325C>T"	""	"{PMID:Seddon 2001:11713080}"	""	"1803C > T (L567F) variant in exon 10 of the VMD2"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61962853C>T"	""	"VUS"	""
"0000839542"	"0"	"70"	"11"	"61723297"	"61723297"	"subst"	"2.80725E-5"	"00000"	"BEST1_000188"	"g.61723297G>C"	""	"{PMID:Seddon 2001:11713080}"	""	"459G > C (E119Q) mutation in exon 4 of the VMD2 gene"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955825G>C"	""	"likely pathogenic"	""
"0000839543"	"20"	"70"	"11"	"61723378"	"61723379"	"delins"	"0"	"00000"	"BEST1_000267"	"g.61723378_61723379delinsAA"	""	"{PMID:Seddon 2001:11713080}"	""	"540GC > AA (A146K) mutation in exon 4 of the VMD2 gene"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.61955906_61955907delinsAA"	""	"likely pathogenic"	""
"0000839546"	"0"	"70"	"11"	"61727007"	"61727007"	"subst"	"0"	"00000"	"BEST1_000033"	"g.61727007A>C"	""	"{PMID:Chung 2001:11756879}"	""	"VMD2 Asp302Ala"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959535A>C"	""	"likely pathogenic"	""
"0000839547"	"0"	"70"	"11"	"61727002"	"61727002"	"subst"	"4.06091E-6"	"00000"	"BEST1_000143"	"g.61727002G>C"	""	"{PMID:Chung 2001:11756879}"	""	"VMD2 Glu300Asp"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959530G>C"	""	"likely pathogenic"	""
"0000839548"	"0"	"70"	"11"	"61725630"	"61725630"	"subst"	"0"	"00000"	"BEST1_000175"	"g.61725630G>A"	""	"{PMID:Chung 2001:11756879}"	""	"VMD2 Ala243Thr"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958158G>A"	""	"likely pathogenic"	""
"0000839549"	"0"	"70"	"11"	"61726991"	"61726991"	"subst"	"0"	"00000"	"BEST1_000283"	"g.(61726991C>G)"	""	"{PMID:Chung 2001:11756879}"	""	"Pro279Ala"	"probable typo in variant description"	"Unknown"	"?"	""	"0"	""	""	"g.(61959519C>G)"	""	"likely pathogenic"	""
"0000839550"	"0"	"70"	"11"	"61724901"	"61724901"	"subst"	"0"	"00000"	"BEST1_000022"	"g.61724901T>A"	""	"{PMID:Chung 2001:11756879}"	""	"VMD2 Tyr227Asn"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957429T>A"	""	"likely pathogenic"	""
"0000839551"	"0"	"70"	"11"	"61724901"	"61724901"	"subst"	"0"	"00000"	"BEST1_000022"	"g.61724901T>A"	""	"{PMID:Chung 2001:11756879}"	""	"VMD2 Tyr227Asn"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957429T>A"	""	"likely pathogenic"	""
"0000839552"	"0"	"70"	"11"	"61719367"	"61719367"	"subst"	"4.06918E-6"	"00000"	"BEST1_000099"	"g.61719367A>G"	""	"{PMID:Chung 2001:11756879}"	""	"VMD2 Lys30Arg"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951895A>G"	""	"likely pathogenic"	""
"0000839553"	"0"	"70"	"11"	"61725630"	"61725630"	"subst"	"0"	"00000"	"BEST1_000175"	"g.61725630G>A"	""	"{PMID:Chung 2001:11756879}"	""	"VMD2 Ala243Thr"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958158G>A"	""	"likely pathogenic"	""
"0000839555"	"0"	"70"	"11"	"61726986"	"61726986"	"subst"	"0"	"00000"	"BEST1_000191"	"g.61726986T>C"	""	"{PMID:Yanagi 2002:12187431}"	""	"VMD2 T990C (I295T)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959514T>C"	""	"likely pathogenic"	""
"0000839556"	"0"	"70"	"11"	"61726986"	"61726986"	"subst"	"0"	"00000"	"BEST1_000191"	"g.61726986T>C"	""	"{PMID:Yanagi 2002:12187431}"	""	"VMD2 T990C (I295T)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959514T>C"	""	"likely pathogenic"	""
"0000839557"	"0"	"70"	"11"	"61727006"	"61727006"	"subst"	"0"	"00000"	"BEST1_000287"	"g.61727006G>C"	""	"{PMID:Marchant 2002:12324875}"	""	"VMD2 904G>C, D302H"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959534G>C"	""	"likely pathogenic"	""
"0000839558"	"0"	"70"	"11"	"61727011"	"61727011"	"subst"	"0"	"00000"	"BEST1_000290"	"g.61727011T>A"	""	"{PMID:Marchant 2002:12324875}"	""	"VMD2 909T>A, D303E"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959539T>A"	""	"likely pathogenic"	""
"0000839559"	"0"	"70"	"11"	"61727025"	"61727025"	"subst"	"0"	"00000"	"BEST1_000296"	"g.61727025A>G"	""	"{PMID:Marchant 2002:12324875}"	""	"VMD2 923A>G, N308S"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959553A>G"	""	"likely pathogenic"	""
"0000839561"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Pianta 2003:12565808}"	""	"VMD2  p.(Arg218Cys)"	"nucleotide change not mentioned in the article, extrapolated from protein variant; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000839562"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Pianta 2003:12565808}"	""	"VMD2  p.(Arg218Cys)"	"nucleotide change not mentioned in the article, extrapolated from protein variant; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000839563"	"0"	"70"	"11"	"61727022"	"61727022"	"subst"	"0"	"00000"	"BEST1_000295"	"g.61727022C>T"	""	"{PMID:Pianta 2003:12565808}"	""	"VMD2  p.(Thr307Ile)"	"nucleotide change not mentioned in the article, extrapolated from protein variant; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959550C>T"	""	"likely pathogenic"	""
"0000839564"	"0"	"70"	"11"	"61727022"	"61727022"	"subst"	"0"	"00000"	"BEST1_000295"	"g.61727022C>T"	""	"{PMID:Pianta 2003:12565808}"	""	"VMD2  p.(Thr307Ile)"	"nucleotide change not mentioned in the article, extrapolated from protein variant; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959550C>T"	""	"likely pathogenic"	""
"0000839565"	"0"	"70"	"11"	"61727022"	"61727022"	"subst"	"0"	"00000"	"BEST1_000295"	"g.61727022C>T"	""	"{PMID:Pianta 2003:12565808}"	""	"VMD2  p.(Thr307Ile)"	"nucleotide change not mentioned in the article, extrapolated from protein variant; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959550C>T"	""	"likely pathogenic"	""
"0000839566"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Pianta 2003:12565808}"	""	"VMD2  p.(Arg218Cys)"	"nucleotide change not mentioned in the article, extrapolated from protein variant; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000839567"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Pianta 2003:12565808}"	""	"VMD2  p.(Arg218Cys)"	"nucleotide change not mentioned in the article, extrapolated from protein variant; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000839568"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Pianta 2003:12565808}"	""	"VMD2  p.(Arg218Cys)"	"nucleotide change not mentioned in the article, extrapolated from protein variant; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000839569"	"0"	"70"	"11"	"61723229"	"61723229"	"subst"	"0"	"00000"	"BEST1_000070"	"g.61723229A>G"	""	"{PMID:Pianta 2003:12565808}"	""	"VMD2  p.(Gln96Arg)"	"nucleotide change not mentioned in the article, extrapolated from protein variant; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955757A>G"	""	"likely pathogenic"	""
"0000839570"	"0"	"70"	"11"	"61723229"	"61723229"	"subst"	"0"	"00000"	"BEST1_000070"	"g.61723229A>G"	""	"{PMID:Pianta 2003:12565808}"	""	"VMD2  p.(Gln96Arg)"	"nucleotide change not mentioned in the article, extrapolated from protein variant; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955757A>G"	""	"likely pathogenic"	""
"0000839572"	"0"	"70"	"11"	"61726991"	"61726991"	"subst"	"4.06105E-6"	"00000"	"BEST1_000030"	"g.61726991C>T"	""	"{PMID:Seddon 2003:13129869}"	""	"VMD2 993C>T, P297S"	"obsolete annotation, c.889C>T is actually causing p.P297S; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959519C>T"	""	"likely pathogenic"	""
"0000839573"	"0"	"70"	"11"	"61726991"	"61726991"	"subst"	"4.06105E-6"	"00000"	"BEST1_000030"	"g.61726991C>T"	""	"{PMID:Seddon 2003:13129869}"	""	"VMD2 993C>T, P297S"	"obsolete annotation, c.889C>T is actually causing p.P297S; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959519C>T"	""	"likely pathogenic"	""
"0000839574"	"0"	"70"	"11"	"61726991"	"61726991"	"subst"	"4.06105E-6"	"00000"	"BEST1_000030"	"g.61726991C>T"	""	"{PMID:Seddon 2003:13129869}"	""	"VMD2 993C>T, P297S"	"obsolete annotation, c.889C>T is actually causing p.P297S; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959519C>T"	""	"likely pathogenic"	""
"0000839575"	"0"	"70"	"11"	"61726991"	"61726991"	"subst"	"4.06105E-6"	"00000"	"BEST1_000030"	"g.61726991C>T"	""	"{PMID:Seddon 2003:13129869}"	""	"VMD2 993C>T, P297S"	"obsolete annotation, c.889C>T is actually causing p.P297S; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959519C>T"	""	"likely pathogenic"	""
"0000839576"	"0"	"70"	"11"	"61726991"	"61726991"	"subst"	"4.06105E-6"	"00000"	"BEST1_000030"	"g.61726991C>T"	""	"{PMID:Seddon 2003:13129869}"	""	"VMD2 993C>T, P297S"	"obsolete annotation, c.889C>T is actually causing p.P297S; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959519C>T"	""	"likely pathogenic"	""
"0000839577"	"0"	"70"	"11"	"61726991"	"61726991"	"subst"	"4.06105E-6"	"00000"	"BEST1_000030"	"g.61726991C>T"	""	"{PMID:Seddon 2003:13129869}"	""	"VMD2 993C>T, P297S"	"obsolete annotation, c.889C>T is actually causing p.P297S; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959519C>T"	""	"likely pathogenic"	""
"0000839578"	"0"	"70"	"11"	"61726991"	"61726991"	"subst"	"4.06105E-6"	"00000"	"BEST1_000030"	"g.61726991C>T"	""	"{PMID:Seddon 2003:13129869}"	""	"VMD2 993C>T, P297S"	"obsolete annotation, c.889C>T is actually causing p.P297S; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959519C>T"	""	"likely pathogenic"	""
"0000839579"	"0"	"70"	"11"	"61727002"	"61727002"	"subst"	"4.06091E-6"	"00000"	"BEST1_000143"	"g.61727002G>C"	""	"{PMID:Seddon 2003:13129869}"	""	"VMD2 1004G>C, E300D"	"obsolete annotation, c.900G>C is actually causing p. E300D; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959530G>C"	""	"likely pathogenic"	""
"0000839580"	"0"	"70"	"11"	"61727002"	"61727002"	"subst"	"4.06091E-6"	"00000"	"BEST1_000143"	"g.61727002G>C"	""	"{PMID:Seddon 2003:13129869}"	""	"VMD2 1004G>C, E300D"	"obsolete annotation, c.900G>C is actually causing p. E300D; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959530G>C"	""	"likely pathogenic"	""
"0000839581"	"0"	"70"	"11"	"61727002"	"61727002"	"subst"	"4.06091E-6"	"00000"	"BEST1_000143"	"g.61727002G>C"	""	"{PMID:Seddon 2003:13129869}"	""	"VMD2 1004G>C, E300D"	"obsolete annotation, c.900G>C is actually causing p. E300D; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959530G>C"	""	"likely pathogenic"	""
"0000839582"	"0"	"70"	"11"	"61727002"	"61727002"	"subst"	"4.06091E-6"	"00000"	"BEST1_000143"	"g.61727002G>C"	""	"{PMID:Seddon 2003:13129869}"	""	"VMD2 1004G>C, E300D"	"obsolete annotation, c.900G>C is actually causing p. E300D; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959530G>C"	""	"likely pathogenic"	""
"0000839583"	"0"	"70"	"11"	"61727002"	"61727002"	"subst"	"4.06091E-6"	"00000"	"BEST1_000143"	"g.61727002G>C"	""	"{PMID:Seddon 2003:13129869}"	""	"VMD2 1004G>C, E300D"	"obsolete annotation, c.900G>C is actually causing p. E300D; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959530G>C"	""	"likely pathogenic"	""
"0000839584"	"0"	"70"	"11"	"61727002"	"61727002"	"subst"	"4.06091E-6"	"00000"	"BEST1_000143"	"g.61727002G>C"	""	"{PMID:Seddon 2003:13129869}"	""	"VMD2 1004G>C, E300D"	"obsolete annotation, c.900G>C is actually causing p. E300D; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959530G>C"	""	"likely pathogenic"	""
"0000839585"	"0"	"70"	"11"	"61727002"	"61727002"	"subst"	"4.06091E-6"	"00000"	"BEST1_000143"	"g.61727002G>C"	""	"{PMID:Seddon 2003:13129869}"	""	"VMD2 1004G>C, E300D"	"obsolete annotation, c.900G>C is actually causing p. E300D; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959530G>C"	""	"likely pathogenic"	""
"0000839586"	"0"	"70"	"11"	"61719310"	"61719310"	"subst"	"0"	"00000"	"BEST1_000245"	"g.61719310A>T"	""	"{PMID:Kramer 2003:14517959}"	""	"VMD2 c.32A>T, Asn11Ile"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951838A>T"	""	"likely pathogenic"	""
"0000839587"	"0"	"70"	"11"	"61719354"	"61719354"	"subst"	"0"	"00000"	"BEST1_000249"	"g.61719354G>C"	""	"{PMID:Kramer 2003:14517959}"	""	"VMD2 c.76G>C, Gly26Arg"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951882G>C"	""	"likely pathogenic"	""
"0000839588"	"0"	"70"	"11"	"61719363"	"61719363"	"subst"	"4.0714E-6"	"00000"	"BEST1_000251"	"g.61719363T>C"	""	"{PMID:Kramer 2003:14517959}"	""	"VMD2 c.85T>C, Tyr29His"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951891T>C"	""	"likely pathogenic"	""
"0000839589"	"0"	"70"	"11"	"61719400"	"61719400"	"subst"	"1.62571E-5"	"00000"	"BEST1_000253"	"g.61719400T>C"	""	"{PMID:Kramer 2003:14517959}"	""	"VMD2 c.122T>C, Leu41Pro"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951928T>C"	""	"likely pathogenic"	""
"0000839590"	"0"	"70"	"11"	"61723241"	"61723241"	"subst"	"0"	"00000"	"BEST1_000123"	"g.61723241T>G"	""	"{PMID:Kramer 2003:14517959}"	""	"VMD2 c.299T>G, Leu100Arg"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955769T>G"	""	"likely pathogenic"	""
"0000839591"	"0"	"70"	"11"	"61723246"	"61723246"	"subst"	"0"	"00000"	"BEST1_000263"	"g.61723246T>C"	""	"{PMID:Kramer 2003:14517959}"	""	"VMD2 c.304T>C, Trp102Arg"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955774T>C"	""	"likely pathogenic"	""
"0000839592"	"0"	"70"	"11"	"61723252"	"61723252"	"subst"	"0"	"00000"	"BEST1_000208"	"g.61723252G>C"	""	"{PMID:Kramer 2003:14517959}"	""	"VMD2 c.310G>C, Asp104His"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955780G>C"	""	"likely pathogenic"	""
"0000839593"	"0"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Kramer 2003:14517959}"	""	"VMD2 c.584C>T, Ala195Val"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic"	""
"0000839594"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000162"	"g.61724874C>A"	""	"{PMID:Kramer 2003:14517959}"	""	"VMD2 c.652C>A, Arg218Ser"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957402C>A"	""	"likely pathogenic"	""
"0000839595"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Kramer 2003:14517959}"	""	"VMD2 c.652C>T, Arg218Cys"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000839596"	"0"	"70"	"11"	"61724932"	"61724932"	"subst"	"0"	"00000"	"BEST1_000278"	"g.61724932C>G"	""	"{PMID:Kramer 2003:14517959}"	""	"VMD2 c.710C>G, Thr237Arg"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957460C>G"	""	"likely pathogenic"	""
"0000839597"	"0"	"70"	"11"	"61725625"	"61725625"	"subst"	"0"	"00000"	"BEST1_000137"	"g.61725625C>A"	""	"{PMID:Kramer 2003:14517959}"	""	"VMD2 c.722C>A, Thr241Asn"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958153C>A"	""	"likely pathogenic"	""
"0000839598"	"0"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Kramer 2003:14517959}"	""	"VMD2 c.728C>T, Ala243Val"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958159C>T"	""	"likely pathogenic"	""
"0000839599"	"0"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Kramer 2003:14517959}"	""	"VMD2 c.728C>T, Ala243Val"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958159C>T"	""	"likely pathogenic"	""
"0000839600"	"0"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Kramer 2003:14517959}"	""	"VMD2 c.728C>T, Ala243Val"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958159C>T"	""	"likely pathogenic"	""
"0000839601"	"0"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Kramer 2003:14517959}"	""	"VMD2 c.728C>T, Ala243Val"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958159C>T"	""	"likely pathogenic"	""
"0000839602"	"0"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Kramer 2003:14517959}"	""	"VMD2 c.728C>T, Ala243Val"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958159C>T"	""	"likely pathogenic"	""
"0000839603"	"0"	"70"	"11"	"61725682"	"61725682"	"del"	"0"	"00000"	"BEST1_000139"	"g.61725682del"	""	"{PMID:Kramer 2003:14517959}"	""	"VMD2 c.779delC, Pro260fsX288"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958210del"	""	"likely pathogenic"	""
"0000839604"	"0"	"70"	"11"	"61726982"	"61726982"	"subst"	"0"	"00000"	"BEST1_000190"	"g.61726982C>G"	""	"{PMID:Kramer 2003:14517959}"	""	"VMD2 c.880C>G, Leu294Val"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959510C>G"	""	"likely pathogenic"	""
"0000839605"	"0"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	""	"{PMID:Kramer 2003:14517959}"	""	"VMD2 c.884delTCA, Ile295del"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959514_61959516del"	""	"likely pathogenic"	""
"0000839606"	"0"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	""	"{PMID:Kramer 2003:14517959}"	""	"VMD2 c.884delTCA, Ile295del"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959514_61959516del"	""	"likely pathogenic"	""
"0000839607"	"0"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	""	"{PMID:Kramer 2003:14517959}"	""	"VMD2 c.884delTCA, Ile295del"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959514_61959516del"	""	"likely pathogenic"	""
"0000839608"	"0"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	""	"{PMID:Kramer 2003:14517959}"	""	"VMD2 c.884delTCA, Ile295del"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959514_61959516del"	""	"likely pathogenic"	""
"0000839609"	"0"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	""	"{PMID:Kramer 2003:14517959}"	""	"VMD2 c.884delTCA, Ile295del"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959514_61959516del"	""	"likely pathogenic"	""
"0000839610"	"0"	"70"	"11"	"61726986"	"61726986"	"subst"	"0"	"00000"	"BEST1_000191"	"g.61726986T>C"	""	"{PMID:Kramer 2003:14517959}"	""	"VMD2 c.884T>C, Ile295Thr"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959514T>C"	""	"likely pathogenic"	""
"0000839611"	"0"	"70"	"11"	"61726995"	"61726995"	"subst"	"0"	"00000"	"BEST1_000284"	"g.61726995T>C"	""	"{PMID:Kramer 2003:14517959}"	""	"VMD2 c.893T>C, Phe298Ser"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959523T>C"	""	"likely pathogenic"	""
"0000839612"	"0"	"70"	"11"	"61727005"	"61727005"	"subst"	"0"	"00000"	"BEST1_000127"	"g.61727005T>G"	""	"{PMID:Kramer 2003:14517959}"	""	"VMD2 c.903G>C, Asp301Glu"	"error in annotation, c.903T>G and not c.903G>C causes p.Asp301Glu; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959533T>G"	""	"likely pathogenic"	""
"0000839615"	"0"	"70"	"11"	"61723198"	"61723198"	"subst"	"0"	"00000"	"BEST1_000101"	"g.61723198G>A"	""	"{PMID:Yardley 2004:15452077}"	""	"VMD2 c.256G>A, p.V86M"	"heterozygous; this mutation causes both substitution and splicing alteration"	"Germline"	"yes"	""	"0"	""	""	"g.61955726G>A"	""	"likely pathogenic"	""
"0000839616"	"0"	"70"	"11"	"61725618"	"61725618"	"subst"	"0"	"00000"	"BEST1_000279"	"g.61725618G>A"	""	"{PMID:Yardley 2004:15452077}"	""	"VMD2 c.715G>A, p.V239M"	"heterozygous; this mutation causes both substitution and splicing alteration"	"Germline"	"yes"	""	"0"	""	""	"g.61958146G>A"	""	"likely pathogenic"	""
"0000839617"	"0"	"70"	"11"	"61723198"	"61723198"	"subst"	"0"	"00000"	"BEST1_000101"	"g.61723198G>A"	""	"{PMID:Yardley 2004:15452077}"	""	"VMD2 c.256G>A, p.V86M"	"heterozygous; this mutation causes both substitution and splicing alteration"	"Germline"	"yes"	""	"0"	""	""	"g.61955726G>A"	""	"likely pathogenic"	""
"0000839618"	"0"	"70"	"11"	"61723198"	"61723198"	"subst"	"0"	"00000"	"BEST1_000101"	"g.61723198G>A"	""	"{PMID:Yardley 2004:15452077}"	""	"VMD2 c.256G>A, p.V86M"	"heterozygous; this mutation causes both substitution and splicing alteration"	"Germline"	"yes"	""	"0"	""	""	"g.61955726G>A"	""	"likely pathogenic"	""
"0000839619"	"0"	"70"	"11"	"61724929"	"61724929"	"subst"	"0"	"00000"	"BEST1_000025"	"g.61724929A>G"	""	"{PMID:Yardley 2004:15452077}"	""	"VMD2 c.707A>G, p.Y236C"	"heterozygous; this mutation causes both substitution and splicing alteration"	"Germline"	"yes"	""	"0"	""	""	"g.61957457A>G"	""	"likely pathogenic"	""
"0000839620"	"0"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Pollack 2005:15657694}"	""	"VMD2 c.728C>T, p.(Ala243Val)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958159C>T"	""	"likely pathogenic"	""
"0000839621"	"0"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Pollack 2005:15657694}"	""	"VMD2 c.728C>T, p.(Ala243Val)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958159C>T"	""	"likely pathogenic"	""
"0000839622"	"0"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Pollack 2005:15657694}"	""	"VMD2 c.728C>T, p.(Ala243Val)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958159C>T"	""	"likely pathogenic"	""
"0000839623"	"0"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Pollack 2005:15657694}"	""	"VMD2 c.728C>T, p.(Ala243Val)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958159C>T"	""	"likely pathogenic"	""
"0000839651"	"0"	"50"	"11"	"61724458"	"61724458"	"subst"	"0.00139435"	"00000"	"BEST1_000047"	"g.61724458G>A"	""	"{PMID:Renner 2005:15808248}"	""	"VMD2 624G>A"	"protein variant not written; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956986G>A"	""	"VUS"	""
"0000839652"	"0"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Renner 2005:15808248}"	""	"VMD2 A243V"	"nucleotide variant not written, extrapolated from protein change and previous publications; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958159C>T"	""	"likely pathogenic"	""
"0000839653"	"0"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Renner 2005:15808248}"	""	"VMD2 A243V"	"nucleotide variant not written, extrapolated from protein change and previous publications; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958159C>T"	""	"likely pathogenic"	""
"0000839654"	"0"	"70"	"11"	"61727005"	"61727005"	"subst"	"0"	"00000"	"BEST1_000127"	"g.61727005T>G"	""	"{PMID:Renner 2005:15808248}"	""	"VMD2 D301E"	"nucleotide variant not written, extrapolated from protein change and previous publications; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959533T>G"	""	"likely pathogenic"	""
"0000839655"	"0"	"70"	"11"	"61727005"	"61727005"	"subst"	"0"	"00000"	"BEST1_000127"	"g.61727005T>G"	""	"{PMID:Renner 2005:15808248}"	""	"VMD2 D301E"	"nucleotide variant not written, extrapolated from protein change and previous publications; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959533T>G"	""	"likely pathogenic"	""
"0000839656"	"0"	"70"	"11"	"61727005"	"61727005"	"subst"	"0"	"00000"	"BEST1_000127"	"g.61727005T>G"	""	"{PMID:Renner 2005:15808248}"	""	"VMD2 D301E"	"nucleotide variant not written, extrapolated from protein change and previous publications; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959533T>G"	""	"likely pathogenic"	""
"0000839657"	"0"	"70"	"11"	"61727005"	"61727005"	"subst"	"0"	"00000"	"BEST1_000127"	"g.61727005T>G"	""	"{PMID:Renner 2005:15808248}"	""	"VMD2 D301E"	"nucleotide variant not written, extrapolated from protein change and previous publications; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959533T>G"	""	"likely pathogenic"	""
"0000839658"	"0"	"70"	"11"	"61727005"	"61727005"	"subst"	"0"	"00000"	"BEST1_000127"	"g.61727005T>G"	""	"{PMID:Renner 2005:15808248}"	""	"VMD2 D301E"	"nucleotide variant not written, extrapolated from protein change and previous publications; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959533T>G"	""	"likely pathogenic"	""
"0000839659"	"0"	"70"	"11"	"61727005"	"61727005"	"subst"	"0"	"00000"	"BEST1_000127"	"g.61727005T>G"	""	"{PMID:Renner 2005:15808248}"	""	"VMD2 D301E"	"nucleotide variant not written, extrapolated from protein change and previous publications; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959533T>G"	""	"likely pathogenic"	""
"0000839660"	"0"	"70"	"11"	"61726995"	"61726995"	"subst"	"0"	"00000"	"BEST1_000284"	"g.61726995T>C"	""	"{PMID:Renner 2005:15808248}"	""	"VMD2 F298S"	"nucleotide variant not written, extrapolated from protein change and previous publications; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959523T>C"	""	"likely pathogenic"	""
"0000839661"	"0"	"70"	"11"	"61722599"	"61722599"	"subst"	"0"	"00000"	"BEST1_000254"	"g.61722599A>T"	""	"{PMID:Renner 2005:15808248}"	""	"VMD2 Q58L"	"nucleotide variant not written, extrapolated from protein change and previous publications; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955127A>T"	""	"likely pathogenic"	""
"0000839662"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000162"	"g.61724874C>A"	""	"{PMID:Renner 2005:15808248}"	""	"VMD2 R218S"	"nucleotide variant not written, extrapolated from protein change and previous publications; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957402C>A"	""	"likely pathogenic"	""
"0000839663"	"0"	"70"	"11"	"0"	"0"	""	"0"	"00000"	"BEST1_000000"	"g.?"	""	"{PMID:Renner 2005:15808248}"	""	"R41S"	"nucleotide variant not written"	"Unknown"	"?"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000839664"	"0"	"70"	"11"	"61723216"	"61723216"	"subst"	"0"	"00000"	"BEST1_000259"	"g.61723216C>A"	""	"{PMID:Renner 2005:15808248}"	""	"VMD2 R92S"	"nucleotide variant not written, extrapolated from protein change and previous publications; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955744C>A"	""	"likely pathogenic"	""
"0000839665"	"0"	"70"	"11"	"61719303"	"61719303"	"subst"	"0"	"00000"	"BEST1_000005"	"g.61719303G>A"	""	"{PMID:Renner 2005:15808248}"	""	"VMD2 V9M"	"nucleotide variant not written, extrapolated from protein change and previous publications; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951831G>A"	""	"likely pathogenic"	""
"0000839666"	"0"	"70"	"11"	"61723246"	"61723246"	"subst"	"0"	"00000"	"BEST1_000263"	"g.61723246T>C"	""	"{PMID:Renner 2005:15808248}"	""	"VMD2 W102R"	"nucleotide variant not written, extrapolated from protein change and previous publications; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955774T>C"	""	"likely pathogenic"	""
"0000839673"	"11"	"70"	"11"	"61724901"	"61724901"	"subst"	"0"	"00000"	"BEST1_000022"	"g.61724901T>A"	""	"{PMID:Mullins 2005:16286623}"	""	"VMD2 Y227N"	"nucleotide variant not written, extrapolated from protein; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957429T>A"	""	"likely pathogenic"	""
"0000839678"	"0"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	""	"{PMID:Wabbels 2006:16612637}"	""	"VMD2 I295del"	"reduced penetrance (present in asymptomatic carriers); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959514_61959516del"	""	"likely pathogenic"	""
"0000839679"	"0"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	""	"{PMID:Wabbels 2006:16612637}"	""	"VMD2 I295del"	"reduced penetrance (present in asymptomatic carriers); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959514_61959516del"	""	"likely pathogenic"	""
"0000839680"	"0"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	""	"{PMID:Wabbels 2006:16612637}"	""	"VMD2 I295del"	"reduced penetrance (present in asymptomatic carriers); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959514_61959516del"	""	"likely pathogenic"	""
"0000839681"	"0"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	""	"{PMID:Wabbels 2006:16612637}"	""	"VMD2 I295del"	"reduced penetrance (present in asymptomatic carriers); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959514_61959516del"	""	"likely pathogenic"	""
"0000839682"	"0"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	""	"{PMID:Wabbels 2006:16612637}"	""	"VMD2 I295del"	"reduced penetrance (present in asymptomatic carriers); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959514_61959516del"	""	"likely pathogenic"	""
"0000839683"	"0"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	""	"{PMID:Wabbels 2006:16612637}"	""	"VMD2 I295del"	"reduced penetrance (present in asymptomatic carriers); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959514_61959516del"	""	"likely pathogenic"	""
"0000839684"	"0"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	""	"{PMID:Wabbels 2006:16612637}"	""	"VMD2 I295del"	"reduced penetrance (present in asymptomatic carriers); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959514_61959516del"	""	"likely pathogenic"	""
"0000839685"	"0"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	""	"{PMID:Wabbels 2006:16612637}"	""	"VMD2 I295del"	"reduced penetrance (present in asymptomatic carriers); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959514_61959516del"	""	"likely pathogenic"	""
"0000839686"	"0"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	""	"{PMID:Wabbels 2006:16612637}"	""	"VMD2 I295del"	"reduced penetrance (present in asymptomatic carriers); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959514_61959516del"	""	"likely pathogenic"	""
"0000839687"	"0"	"70"	"11"	"61723239"	"61723239"	"subst"	"0"	"00000"	"BEST1_000262"	"g.61723239C>A"	""	"{PMID:Wabbels 2006:16612637}"	""	"VMD2 N99K"	"reduced penetrance (present in asymptomatic carriers); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955767C>A"	""	"likely pathogenic"	""
"0000839688"	"0"	"70"	"11"	"61723239"	"61723239"	"subst"	"0"	"00000"	"BEST1_000262"	"g.61723239C>A"	""	"{PMID:Wabbels 2006:16612637}"	""	"VMD2 N99K"	"reduced penetrance (present in asymptomatic carriers); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955767C>A"	""	"likely pathogenic"	""
"0000839689"	"0"	"70"	"11"	"61723239"	"61723239"	"subst"	"0"	"00000"	"BEST1_000262"	"g.61723239C>A"	""	"{PMID:Wabbels 2006:16612637}"	""	"VMD2 N99K"	"reduced penetrance (present in asymptomatic carriers); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955767C>A"	""	"likely pathogenic"	""
"0000839690"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Wabbels 2006:16612637}"	""	"VMD2 R218C"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000839691"	"0"	"70"	"11"	"61724902"	"61724902"	"subst"	"0"	"00000"	"BEST1_000273"	"g.61724902A>T"	""	"{PMID:Wabbels 2006:16612637}"	""	"VMD2 Y227F"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957430A>T"	""	"likely pathogenic"	""
"0000839692"	"0"	"70"	"11"	"61724932"	"61724932"	"subst"	"0"	"00000"	"BEST1_000278"	"g.61724932C>G"	""	"{PMID:Wabbels 2006:16612637}"	""	"VMD2 T237R"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957460C>G"	""	"likely pathogenic"	""
"0000839693"	"0"	"70"	"11"	"61724932"	"61724932"	"subst"	"0"	"00000"	"BEST1_000278"	"g.61724932C>G"	""	"{PMID:Wabbels 2006:16612637}"	""	"VMD2 T237R"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957460C>G"	""	"likely pathogenic"	""
"0000839694"	"0"	"70"	"11"	"61724931"	"61724931"	"subst"	"0"	"00000"	"BEST1_000228"	"g.61724931A>T"	""	"{PMID:Wabbels 2006:16612637}"	""	"VMD2 T237S"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957459A>T"	""	"likely pathogenic"	""
"0000839695"	"0"	"70"	"11"	"61724931"	"61724931"	"subst"	"0"	"00000"	"BEST1_000228"	"g.61724931A>T"	""	"{PMID:Wabbels 2006:16612637}"	""	"VMD2 T237S"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957459A>T"	""	"likely pathogenic"	""
"0000839696"	"0"	"70"	"11"	"61724931"	"61724931"	"subst"	"0"	"00000"	"BEST1_000228"	"g.61724931A>T"	""	"{PMID:Wabbels 2006:16612637}"	""	"VMD2 T237S"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957459A>T"	""	"likely pathogenic"	""
"0000839697"	"0"	"70"	"11"	"61724917"	"61724917"	"subst"	"0"	"00000"	"BEST1_000275"	"g.61724917T>A"	""	"{PMID:Wabbels 2006:16612637}"	""	"VMD2 I232N"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957445T>A"	""	"likely pathogenic"	""
"0000839698"	"0"	"70"	"11"	"61719365"	"61719365"	"subst"	"0"	"00000"	"BEST1_000252"	"g.61719365C>G"	""	"{PMID:Schatz 2006:16754206}"	""	"VMD2 Tyr29 stop"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951893C>G"	""	"likely pathogenic"	""
"0000839699"	"0"	"70"	"11"	"61719365"	"61719365"	"subst"	"0"	"00000"	"BEST1_000016"	"g.61719365C>G"	""	"{PMID:Schatz 2006:16754206}"	""	"VMD2 Arg141His"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951893C>G"	""	"likely pathogenic"	""
"0000839700"	"11"	"70"	"11"	"61719365"	"61719365"	"subst"	"0"	"00000"	"BEST1_000016"	"g.61719365C>G"	""	"{PMID:Schatz 2006:16754206}"	""	"VMD2 Tyr29 stop, Arg141His"	"two dominant mutations in two alleles; compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951893C>G"	""	"likely pathogenic"	""
"0000839701"	"11"	"70"	"11"	"61719365"	"61719365"	"subst"	"0"	"00000"	"BEST1_000016"	"g.61719365C>G"	""	"{PMID:Schatz 2006:16754206}"	""	"VMD2 Tyr29 stop, Arg141His"	"two dominant mutations in two alleles; compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951893C>G"	""	"likely pathogenic"	""
"0000839702"	"21"	"70"	"11"	"61719365"	"61719365"	"subst"	"0"	"00000"	"BEST1_000016"	"g.61719365C>G"	""	"{PMID:Schatz 2006:16754206}"	""	"VMD2 Tyr29 stop"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951893C>G"	""	"likely pathogenic"	""
"0000839703"	"21"	"70"	"11"	"61719365"	"61719365"	"subst"	"0"	"00000"	"BEST1_000016"	"g.61719365C>G"	""	"{PMID:Schatz 2006:16754206}"	""	"VMD2 Tyr29 stop"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951893C>G"	""	"likely pathogenic"	""
"0000839704"	"21"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Schatz 2006:16754206}"	""	"VMD2 Tyr29 stop, Arg141His"	"two dominant mutations in two alleles; compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic"	""
"0000839705"	"21"	"70"	"11"	"61955892"	"61955892"	"subst"	"0"	"00000"	"BEST1_000016"	"g.61955892G>A"	""	"{PMID:Schatz 2006:16754206}"	""	"VMD2 Tyr29 stop, Arg141His"	"two dominant mutations in two alleles; compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic"	""
"0000839783"	"0"	"70"	"11"	"61719294"	"61719294"	"subst"	"0"	"00000"	"BEST1_000301"	"g.61719294A>G"	""	"{PMID:Apushkin 2006:16769844}"	""	"VMD2 gene missense mutation in exon 2 (Thr6Ala [ACA>GCA])"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"De novo"	"yes"	""	"0"	""	""	"g.61951822A>G"	""	"likely pathogenic"	""
"0000839785"	"10"	"70"	"11"	"61723281"	"61723281"	"subst"	"7.04384E-6"	"00000"	"BEST1_000306"	"g.61723281C>G"	""	"{PMID:Li 2006:16865191}"	""	"VMD2 gene (C427G) Phe-113-Leu"	"obsolete nucleotide annotation; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955809C>G"	""	"likely pathogenic"	""
"0000839786"	"10"	"70"	"11"	"61723281"	"61723281"	"subst"	"7.04384E-6"	"00000"	"BEST1_000306"	"g.61723281C>G"	""	"{PMID:Li 2006:16865191}"	""	"VMD2 gene (C427G) Phe-113-Leu"	"obsolete nucleotide annotation; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955809C>G"	""	"likely pathogenic"	""
"0000839815"	"0"	"70"	"11"	"61723342"	"61723342"	"subst"	"3.4905E-5"	"00000"	"BEST1_000209"	"g.61723342C>G"	""	"{PMID:Marchant 2007:17287362}"	""	"VMD2 c.504C>G, L134V"	"error in annotation, L134V is caused by c.400C>G and not c.504C>G (obsolete coordinates used)"	"Germline"	"yes"	""	"0"	""	""	"g.61955870C>G"	""	"likely pathogenic"	""
"0000839816"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Marchant 2007:17287362}"	""	"VMD2 c.652C>T, R218C"	""	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000839817"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Marchant 2007:17287362}"	""	"VMD2 c.652C>T, R218C"	""	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000839818"	"0"	"70"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Marchant 2007:17287362}"	""	"VMD2 c.653G>A, R218H"	""	"Germline"	"yes"	""	"0"	""	""	"g.61957403G>A"	""	"likely pathogenic"	""
"0000839819"	"0"	"70"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Marchant 2007:17287362}"	""	"VMD2 c.653G>A, R218H"	""	"Germline"	"yes"	""	"0"	""	""	"g.61957403G>A"	""	"likely pathogenic"	""
"0000839820"	"0"	"70"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Marchant 2007:17287362}"	""	"VMD2 c.653G>A, R218H"	""	"Germline"	"yes"	""	"0"	""	""	"g.61957403G>A"	""	"likely pathogenic"	""
"0000839821"	"0"	"70"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Marchant 2007:17287362}"	""	"VMD2 c.653G>A, R218H"	""	"Germline"	"yes"	""	"0"	""	""	"g.61957403G>A"	""	"likely pathogenic"	""
"0000839822"	"0"	"70"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Marchant 2007:17287362}"	""	"VMD2 c.653G>A, R218H"	""	"Germline"	"yes"	""	"0"	""	""	"g.61957403G>A"	""	"likely pathogenic"	""
"0000839823"	"0"	"70"	"11"	"61724887"	"61724887"	"subst"	"0"	"00000"	"BEST1_000062"	"g.61724887G>A"	""	"{PMID:Marchant 2007:17287362}"	""	"VMD2 c.665G>A, G222E"	""	"Germline"	"yes"	""	"0"	""	""	"g.61957415G>A"	""	"likely pathogenic"	""
"0000839824"	"0"	"70"	"11"	"61724914"	"61724914"	"subst"	"0"	"00000"	"BEST1_000316"	"g.61724914G>C"	""	"{PMID:Marchant 2007:17287362}"	""	"VMD2 c.692G>C, S231T"	""	"Germline"	"yes"	""	"0"	""	""	"g.61957442G>C"	""	"likely pathogenic"	""
"0000839825"	"0"	"70"	"11"	"61724920"	"61724920"	"subst"	"0"	"00000"	"BEST1_000214"	"g.61724920C>A"	""	"{PMID:Marchant 2007:17287362}"	""	"VMD2 c.698C>A, P233Q"	""	"Germline"	"yes"	""	"0"	""	""	"g.61957448C>A"	""	"likely pathogenic"	""
"0000839826"	"0"	"70"	"11"	"61726981"	"61726981"	"subst"	"0"	"00000"	"BEST1_000319"	"g.61726981G>C"	""	"{PMID:Marchant 2007:17287362}"	""	"VMD2 c.879G>C, Q293H"	""	"Germline"	"yes"	""	"0"	""	""	"g.61959509G>C"	""	"likely pathogenic"	""
"0000839827"	"0"	"70"	"11"	"61726981"	"61726981"	"subst"	"0"	"00000"	"BEST1_000319"	"g.61726981G>C"	""	"{PMID:Marchant 2007:17287362}"	""	"VMD2 c.879G>C, Q293H"	""	"Germline"	"yes"	""	"0"	""	""	"g.61959509G>C"	""	"likely pathogenic"	""
"0000839828"	"11"	"70"	"11"	"61726981"	"61726981"	"subst"	"0"	"00000"	"BEST1_000319"	"g.61726981G>C"	""	"{PMID:Marchant 2007:17287362}"	""	"VMD2 c.879G>C, Q293H"	""	"Germline"	"yes"	""	"0"	""	""	"g.61959509G>C"	""	"likely pathogenic"	""
"0000839829"	"11"	"70"	"11"	"61726981"	"61726981"	"subst"	"0"	"00000"	"BEST1_000319"	"g.61726981G>C"	""	"{PMID:Marchant 2007:17287362}"	""	"VMD2 c.879G>C, Q293H"	""	"Germline"	"yes"	""	"0"	""	""	"g.61959509G>C"	""	"likely pathogenic"	""
"0000839830"	"11"	"70"	"11"	"61726981"	"61726981"	"subst"	"0"	"00000"	"BEST1_000319"	"g.61726981G>C"	""	"{PMID:Marchant 2007:17287362}"	""	"VMD2 c.879G>C, Q293H"	""	"Germline"	"yes"	""	"0"	""	""	"g.61959509G>C"	""	"likely pathogenic"	""
"0000839831"	"11"	"70"	"11"	"61726981"	"61726981"	"subst"	"0"	"00000"	"BEST1_000319"	"g.61726981G>C"	""	"{PMID:Marchant 2007:17287362}"	""	"VMD2 c.879G>C, Q293H"	""	"Germline"	"yes"	""	"0"	""	""	"g.61959509G>C"	""	"likely pathogenic"	""
"0000839832"	"11"	"70"	"11"	"61726981"	"61726981"	"subst"	"0"	"00000"	"BEST1_000319"	"g.61726981G>C"	""	"{PMID:Marchant 2007:17287362}"	""	"VMD2 c.879G>C, Q293H"	""	"Germline"	"yes"	""	"0"	""	""	"g.61959509G>C"	""	"likely pathogenic"	""
"0000839833"	"11"	"70"	"11"	"61726981"	"61726981"	"subst"	"0"	"00000"	"BEST1_000319"	"g.61726981G>C"	""	"{PMID:Marchant 2007:17287362}"	""	"VMD2 c.879G>C, Q293H"	""	"Germline"	"yes"	""	"0"	""	""	"g.61959509G>C"	""	"likely pathogenic"	""
"0000839834"	"0"	"70"	"11"	"61726982"	"61726982"	"subst"	"0"	"00000"	"BEST1_000190"	"g.61726982C>G"	""	"{PMID:Marchant 2007:17287362}"	""	"VMD2 c.880C>G, L294V"	""	"Germline"	"yes"	""	"0"	""	""	"g.61959510C>G"	""	"likely pathogenic"	""
"0000839835"	"0"	"70"	"11"	"61726997"	"61726997"	"subst"	"0"	"00000"	"BEST1_000322"	"g.61726997G>A"	""	"{PMID:Marchant 2007:17287362}"	""	"VMD2 c.894G>A, G299R"	"error in annotation, G299R is caused by c.895G>A and not c.894G>A"	"Germline"	"yes"	""	"0"	""	""	"g.61959525G>A"	""	"likely pathogenic"	""
"0000839836"	"0"	"70"	"11"	"61727019"	"61727019"	"subst"	"0"	"00000"	"BEST1_000292"	"g.61727019A>G"	""	"{PMID:Marchant 2007:17287362}"	""	"VMD2 c.916A>G, E306G"	"error in annotation, E306G is caused by c.917A>G and not c.916A>G"	"Germline"	"yes"	""	"0"	""	""	"g.61959547A>G"	""	"likely pathogenic"	""
"0000839837"	"0"	"70"	"11"	"61727025"	"61727025"	"subst"	"0"	"00000"	"BEST1_000296"	"g.61727025A>G"	""	"{PMID:Marchant 2007:17287362}"	""	"VMD2 c.922A>G, N308S"	"error in annotation, N308S is caused by c.923A>G and not c.922A>G"	"Germline"	"yes"	""	"0"	""	""	"g.61959553A>G"	""	"likely pathogenic"	""
"0000839839"	"0"	"70"	"11"	"61723221"	"61723221"	"subst"	"0"	"00000"	"BEST1_000012"	"g.61723221G>C"	""	"{PMID:Bakall 2007:17477921}"	""	"VMD2 W93C"	"no nucleotide annotation, extrapolated from article; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955749G>C"	""	"likely pathogenic"	""
"0000839840"	"0"	"70"	"11"	"61723221"	"61723221"	"subst"	"0"	"00000"	"BEST1_000012"	"g.61723221G>C"	""	"{PMID:Bakall 2007:17477921}"	""	"VMD2 W93C"	"no nucleotide annotation, extrapolated from article; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955749G>C"	""	"likely pathogenic"	""
"0000839841"	"0"	"70"	"11"	"61723221"	"61723221"	"subst"	"0"	"00000"	"BEST1_000012"	"g.61723221G>C"	""	"{PMID:Bakall 2007:17477921}"	""	"VMD2 W93C"	"no nucleotide annotation, extrapolated from article; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955749G>C"	""	"likely pathogenic"	""
"0000839842"	"0"	"70"	"11"	"61723221"	"61723221"	"subst"	"0"	"00000"	"BEST1_000012"	"g.61723221G>C"	""	"{PMID:Bakall 2007:17477921}"	""	"VMD2 W93C"	"no nucleotide annotation, extrapolated from article; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955749G>C"	""	"likely pathogenic"	""
"0000839843"	"0"	"70"	"11"	"61723221"	"61723221"	"subst"	"0"	"00000"	"BEST1_000012"	"g.61723221G>C"	""	"{PMID:Bakall 2007:17477921}"	""	"VMD2 W93C"	"no nucleotide annotation, extrapolated from article; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955749G>C"	""	"likely pathogenic"	""
"0000839844"	"0"	"70"	"11"	"61723221"	"61723221"	"subst"	"0"	"00000"	"BEST1_000012"	"g.61723221G>C"	""	"{PMID:Bakall 2007:17477921}"	""	"VMD2 W93C"	"no nucleotide annotation, extrapolated from article; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955749G>C"	""	"likely pathogenic"	""
"0000839845"	"0"	"70"	"11"	"61723221"	"61723221"	"subst"	"0"	"00000"	"BEST1_000012"	"g.61723221G>C"	""	"{PMID:Bakall 2007:17477921}"	""	"VMD2 W93C"	"no nucleotide annotation, extrapolated from article; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955749G>C"	""	"likely pathogenic"	""
"0000839846"	"0"	"70"	"11"	"61723221"	"61723221"	"subst"	"0"	"00000"	"BEST1_000012"	"g.61723221G>C"	""	"{PMID:Bakall 2007:17477921}"	""	"VMD2 W93C"	"no nucleotide annotation, extrapolated from article; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955749G>C"	""	"likely pathogenic"	""
"0000839847"	"0"	"70"	"11"	"61723221"	"61723221"	"subst"	"0"	"00000"	"BEST1_000012"	"g.61723221G>C"	""	"{PMID:Bakall 2007:17477921}"	""	"VMD2 W93C"	"no nucleotide annotation, extrapolated from article; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955749G>C"	""	"likely pathogenic"	""
"0000839848"	"0"	"70"	"11"	"61723221"	"61723221"	"subst"	"0"	"00000"	"BEST1_000012"	"g.61723221G>C"	""	"{PMID:Bakall 2007:17477921}"	""	"VMD2 W93C"	"no nucleotide annotation, extrapolated from article; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955749G>C"	""	"likely pathogenic"	""
"0000839849"	"0"	"70"	"11"	"61723221"	"61723221"	"subst"	"0"	"00000"	"BEST1_000012"	"g.61723221G>C"	""	"{PMID:Bakall 2007:17477921}"	""	"VMD2 W93C"	"no nucleotide annotation, extrapolated from article; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955749G>C"	""	"likely pathogenic"	""
"0000839859"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000313"	"g.61724874C>G"	""	"{PMID:Sodi 2007:17646752}"	""	"BEST1 R218G"	"no nucleotide annotation, extrapolated from protein; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>G"	""	"likely pathogenic"	""
"0000839860"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000313"	"g.61724874C>G"	""	"{PMID:Sodi 2007:17646752}"	""	"BEST1 R218G"	"no nucleotide annotation, extrapolated from protein; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>G"	""	"likely pathogenic"	""
"0000839861"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000313"	"g.61724874C>G"	""	"{PMID:Sodi 2007:17646752}"	""	"BEST1 R218G"	"no nucleotide annotation, extrapolated from protein; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>G"	""	"likely pathogenic"	""
"0000839862"	"0"	"70"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:Sodi 2007:17646752}"	""	"BEST1 R25W"	"no nucleotide annotation, extrapolated from protein; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951879C>T"	""	"likely pathogenic"	""
"0000839863"	"0"	"70"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:Sodi 2007:17646752}"	""	"BEST1 R25W"	"no nucleotide annotation, extrapolated from protein; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951879C>T"	""	"likely pathogenic"	""
"0000839864"	"0"	"70"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:Sodi 2007:17646752}"	""	"BEST1 R25W"	"no nucleotide annotation, extrapolated from protein; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951879C>T"	""	"likely pathogenic"	""
"0000839865"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Sodi 2007:17646752}"	""	"BEST1 R218C"	"no nucleotide annotation, extrapolated from protein; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000839866"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Sodi 2007:17646752}"	""	"BEST1 R218C"	"no nucleotide annotation, extrapolated from protein; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000839867"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Sodi 2007:17646752}"	""	"BEST1 R218C"	"no nucleotide annotation, extrapolated from protein; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000839868"	"0"	"70"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:Sodi 2007:17646752}"	""	"BEST1 R25W"	"no nucleotide annotation, extrapolated from protein; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951879C>T"	""	"likely pathogenic"	""
"0000839869"	"0"	"70"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:Sodi 2007:17646752}"	""	"BEST1 R25W"	"no nucleotide annotation, extrapolated from protein; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951879C>T"	""	"likely pathogenic"	""
"0000839870"	"0"	"70"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:Sodi 2007:17646752}"	""	"BEST1 R25W"	"no nucleotide annotation, extrapolated from protein; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951879C>T"	""	"likely pathogenic"	""
"0000839875"	"0"	"70"	"11"	"61723342"	"61723342"	"subst"	"3.4905E-5"	"00000"	"BEST1_000209"	"g.61723342C>G"	""	"{PMID:Boon 2007:17698758}"	""	"VMD2 c.[584CT; 400CG], p.[Ala195Val; Leu134Val]"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955870C>G"	""	"likely pathogenic"	""
"0000839876"	"0"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Boon 2007:17698758}"	""	"VMD2 c.[584CT; 400CG], p.[Ala195Val; Leu134Val]"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic"	""
"0000839877"	"0"	"70"	"11"	"61726993"	"61726993"	"subst"	"0"	"00000"	"BEST1_000110"	"g.61726993C>A"	""	"{PMID:Boon 2007:17698758}"	""	"VMD2 c.891C>A, p.Asn296Lys"	"error in annotation, p.Asn296Lys is caused by c.888C>A and not  c.891C>A; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959521C>A"	""	"likely pathogenic"	""
"0000839878"	"0"	"70"	"11"	"61719294"	"61719294"	"subst"	"0"	"00000"	"BEST1_000004"	"g.61719294A>C"	""	"{PMID:Boon 2007:17698758}"	""	"VMD2 c.16A>C, p.Thr6Pro"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951822A>C"	""	"likely pathogenic"	""
"0000839879"	"0"	"70"	"11"	"61724417"	"61724418"	"ins"	"0"	"00000"	"BEST1_000310"	"g.61724417_61724418insTGG"	""	"{PMID:Boon 2007:17698758}"	""	"VMD2 c.583_584insTGG, p.Lys194_Ala195insVal"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956945_61956946insTGG"	""	"likely pathogenic"	""
"0000839880"	"0"	"70"	"11"	"61727006"	"61727014"	"del"	"0"	"00000"	"BEST1_000325"	"g.61727006_61727014del"	""	"{PMID:Boon 2007:17698758}"	""	"VMD2 c.904_912delGATGATGAT, p.Asp302_Asp304del"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959534_61959542del"	""	"likely pathogenic"	""
"0000839881"	"0"	"70"	"11"	"61719325"	"61719325"	"subst"	"0"	"00000"	"BEST1_000069"	"g.61719325C>A"	""	"{PMID:Boon 2007:17698758}"	""	"VMD2 c.47C>A, p.Ser16Tyr"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951853C>A"	""	"likely pathogenic"	""
"0000839882"	"0"	"70"	"11"	"61726995"	"61726995"	"subst"	"0"	"00000"	"BEST1_000284"	"g.61726995T>C"	""	"{PMID:Boon 2007:17698758}"	""	"VMD2 c.893T>C, p.Phe298Ser"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959523T>C"	""	"likely pathogenic"	""
"0000839883"	"0"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Boon 2007:17698758}"	""	"VMD2 c.584C>T, p.Ala195Val"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic"	""
"0000839884"	"0"	"70"	"11"	"61719294"	"61719294"	"subst"	"0"	"00000"	"BEST1_000004"	"g.61719294A>C"	""	"{PMID:Boon 2007:17698758}"	""	"VMD2 c.16A>C, p.Thr6Pro"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951822A>C"	""	"likely pathogenic"	""
"0000839915"	"3"	"70"	"11"	"61724432"	"61724432"	"subst"	"1.21878E-5"	"00000"	"BEST1_000311"	"g.61724432C>T"	""	"{PMID:Burgess 2008:18179881}"	""	"BEST1 c.598C>T, (p.R200X)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956960C>T"	""	"likely pathogenic"	""
"0000839916"	"3"	"70"	"11"	"61724432"	"61724432"	"subst"	"1.21878E-5"	"00000"	"BEST1_000311"	"g.61724432C>T"	""	"{PMID:Burgess 2008:18179881}"	""	"BEST1 c.598C>T, (p.R200X)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956960C>T"	""	"likely pathogenic"	""
"0000839917"	"0"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Burgess 2008:18179881}"	""	"BEST1 c.422G>A, (p.R141H)"	"error in annotation, p.R141H is caused by c.422G>A, and not c.442G>A; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic"	""
"0000839918"	"1"	"70"	"11"	"61719400"	"61719400"	"subst"	"1.62571E-5"	"00000"	"BEST1_000253"	"g.61719400T>C"	""	"{PMID:Burgess 2008:18179881}"	""	"BEST1 c.122T>C, (p.L41P)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951928T>C"	""	"likely pathogenic"	""
"0000839919"	"11"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Burgess 2008:18179881}"	""	"BEST1 c.422G>A, (p.R141H)"	"error in annotation, p.R141H is caused by c.422G>A, and not c.442G>A; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic"	""
"0000839920"	"20"	"70"	"11"	"61727036"	"61727036"	"subst"	"4.87369E-5"	"00000"	"BEST1_000036"	"g.61727036G>A"	""	"{PMID:Burgess 2008:18179881}"	""	"BEST1 c.934G>A, (p.D312N)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959564G>A"	""	"likely pathogenic"	""
"0000839921"	"20"	"70"	"11"	"61727036"	"61727036"	"subst"	"4.87369E-5"	"00000"	"BEST1_000036"	"g.61727036G>A"	""	"{PMID:Burgess 2008:18179881}"	""	"BEST1 c.934G>A, (p.D312N)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959564G>A"	""	"likely pathogenic"	""
"0000839922"	"0"	"70"	"11"	"61727364"	"61727364"	"subst"	"0"	"00000"	"BEST1_000327"	"g.61727364G>A"	""	"{PMID:Burgess 2008:18179881}"	""	"BEST1 c.949G>A, (p.V317M)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959892G>A"	""	"likely pathogenic"	""
"0000839923"	"0"	"70"	"11"	"61723396"	"61723396"	"subst"	"2.86217E-5"	"00000"	"BEST1_000308"	"g.61723396C>G"	""	"{PMID:Burgess 2008:18179881}"	""	"BEST1 c.454C>G, (p.P152A)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955924C>G"	""	"likely pathogenic"	""
"0000839924"	"21"	"70"	"11"	"61719400"	"61719400"	"subst"	"1.62571E-5"	"00000"	"BEST1_000253"	"g.61719400T>C"	""	"{PMID:Burgess 2008:18179881}"	""	"BEST1 c.122T>C, (p.L41P)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951928T>C"	""	"likely pathogenic"	""
"0000839925"	"11"	"70"	"11"	"61727389"	"61727389"	"subst"	"4.90132E-5"	"00000"	"BEST1_000037"	"g.61727389T>C"	""	"{PMID:Burgess 2008:18179881}"	""	"BEST1 c.974T>C, (p.M325T)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959917T>C"	""	"likely pathogenic"	""
"0000839926"	"11"	"70"	"11"	"61727389"	"61727389"	"subst"	"4.90132E-5"	"00000"	"BEST1_000037"	"g.61727389T>C"	""	"{PMID:Burgess 2008:18179881}"	""	"BEST1 c.974T>C, (p.M325T)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959917T>C"	""	"likely pathogenic"	""
"0000839929"	"10"	"70"	"11"	"61724926"	"61724926"	"subst"	"0"	"00000"	"BEST1_000317"	"g.61724926T>C"	""	"{PMID:Burgess 2009:18611979}"	""	"BEST1 c.704T>C, p.V235A"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957454T>C"	""	"likely pathogenic"	""
"0000839930"	"10"	"70"	"11"	"61724926"	"61724926"	"subst"	"0"	"00000"	"BEST1_000317"	"g.61724926T>C"	""	"{PMID:Burgess 2009:18611979}"	""	"BEST1 c.704T>C, p.V235A"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957454T>C"	""	"likely pathogenic"	""
"0000839933"	"0"	"70"	"11"	"61727017"	"61727017"	"subst"	"0"	"00000"	"BEST1_000326"	"g.61727017T>G"	""	"{PMID:Testa 2008:18703557}"	""	"BEST1 Phe305Leu"	"no nucleotide annotation, extrapolated from databases; heterozygous"	"De novo"	"yes"	""	"0"	""	""	"g.61959545T>G"	""	"likely pathogenic"	""
"0000839934"	"11"	"70"	"11"	"61727017"	"61727017"	"subst"	"0"	"00000"	"BEST1_000326"	"g.61727017T>G"	""	"{PMID:Testa 2008:18703557}"	""	"BEST1 Phe305Leu"	"no nucleotide annotation, extrapolated from databases; heterozygous; de novo (parents tested)"	"Germline"	"yes"	""	"0"	""	""	"g.61959545T>G"	""	"likely pathogenic"	""
"0000839935"	"11"	"70"	"11"	"61727017"	"61727017"	"subst"	"0"	"00000"	"BEST1_000326"	"g.61727017T>G"	""	"{PMID:Testa 2008:18703557}"	""	"BEST1 Phe305Leu"	"no nucleotide annotation, extrapolated from databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959545T>G"	""	"likely pathogenic"	""
"0000839949"	"0"	"70"	"11"	"61725627"	"61725627"	"subst"	"0"	"00000"	"BEST1_000318"	"g.61725627G>A"	""	"{PMID:Atchaneeyasakul 2008:18766995}"	""	"BEST1 G-to-A change on 724, resulting in a Val-242-Met substitution"	"no nucleotide annotation, extrapolated from databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958155G>A"	""	"likely pathogenic"	""
"0000839950"	"0"	"70"	"11"	"61725627"	"61725627"	"subst"	"0"	"00000"	"BEST1_000318"	"g.61725627G>A"	""	"{PMID:Atchaneeyasakul 2008:18766995}"	""	"BEST1 G-to-A change on 724, resulting in a Val-242-Met substitution"	"no nucleotide annotation, extrapolated from databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958155G>A"	""	"likely pathogenic"	""
"0000839951"	"11"	"70"	"11"	"61725627"	"61725627"	"subst"	"0"	"00000"	"BEST1_000318"	"g.61725627G>A"	""	"{PMID:Atchaneeyasakul 2008:18766995}"	""	"BEST1 G-to-A change on 724, resulting in a Val-242-Met substitution"	"no nucleotide annotation, extrapolated from databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958155G>A"	""	"likely pathogenic"	""
"0000839952"	"21"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Atchaneeyasakul 2008:18766995}"	""	"BEST1 C-to-T transition on 652, resulting in an Arg-218-Cys substitution"	"no nucleotide annotation, extrapolated from databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000839953"	"21"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Atchaneeyasakul 2008:18766995}"	""	"BEST1 C-to-T transition on 652, resulting in an Arg-218-Cys substitution"	"no nucleotide annotation, extrapolated from databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000839954"	"21"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Atchaneeyasakul 2008:18766995}"	""	"BEST1 C-to-T transition on 652, resulting in an Arg-218-Cys substitution"	"no nucleotide annotation, extrapolated from databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000839955"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Atchaneeyasakul 2008:18766995}"	""	"BEST1 C-to-T transition on 652, resulting in an Arg-218-Cys substitution"	"no nucleotide annotation, extrapolated from databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000839956"	"0"	"70"	"11"	"61727005"	"61727005"	"subst"	"0"	"00000"	"BEST1_000127"	"g.61727005T>G"	""	"{PMID: Ouyang 2008:18844018}"	""	"T-->G transition at codon 301, producing Asp301Glu mutation of VMD2"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959533T>G"	""	"likely pathogenic"	""
"0000839957"	"0"	"70"	"11"	"61727005"	"61727005"	"subst"	"0"	"00000"	"BEST1_000127"	"g.61727005T>G"	""	"{PMID: Ouyang 2008:18844018}"	""	"T-->G transition at codon 301, producing Asp301Glu mutation of VMD3"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959533T>G"	""	"likely pathogenic"	""
"0000839958"	"0"	"70"	"11"	"61727005"	"61727005"	"subst"	"0"	"00000"	"BEST1_000127"	"g.61727005T>G"	""	"{PMID: Ouyang 2008:18844018}"	""	"T-->G transition at codon 301, producing Asp301Glu mutation of VMD4"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959533T>G"	""	"likely pathogenic"	""
"0000839959"	"0"	"70"	"11"	"61727005"	"61727005"	"subst"	"0"	"00000"	"BEST1_000127"	"g.61727005T>G"	""	"{PMID: Ouyang 2008:18844018}"	""	"T-->G transition at codon 301, producing Asp301Glu mutation of VMD5"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959533T>G"	""	"likely pathogenic"	""
"0000839960"	"0"	"70"	"11"	"61727005"	"61727005"	"subst"	"0"	"00000"	"BEST1_000127"	"g.61727005T>G"	""	"{PMID: Ouyang 2008:18844018}"	""	"T-->G transition at codon 301, producing Asp301Glu mutation of VMD6"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959533T>G"	""	"likely pathogenic"	""
"0000839966"	"1"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Gerth 2009:18985398}"	""	"A195V"	""	"Germline"	"yes"	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic"	""
"0000839967"	"2"	"70"	"11"	"61723204"	"61723222"	"del"	"0"	"00000"	"BEST1_000000"	"g.(61723204_61723222)delN[17]"	""	"{PMID:Gerth 2009:18985398}"	""	"BEST1 Leu88del17"	"no nucleotide annotation"	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000839968"	"0"	"70"	"11"	"61719294"	"61719294"	"subst"	"0"	"00000"	"BEST1_000004"	"g.61719294A>C"	""	"{PMID:Boon 2009:19357557}"	""	"BEST1 c.16A>C, p.(Thr6Pro)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951822A>C"	""	"likely pathogenic"	""
"0000839969"	"0"	"70"	"11"	"61719294"	"61719294"	"subst"	"0"	"00000"	"BEST1_000004"	"g.61719294A>C"	""	"{PMID:Boon 2009:19357557}"	""	"BEST1 c.16A>C, p.(Thr6Pro)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951822A>C"	""	"likely pathogenic"	""
"0000839970"	"0"	"70"	"11"	"61719294"	"61719294"	"subst"	"0"	"00000"	"BEST1_000004"	"g.61719294A>C"	""	"{PMID:Boon 2009:19357557}"	""	"BEST1 c.16A>C, p.(Thr6Pro)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951822A>C"	""	"likely pathogenic"	""
"0000839971"	"0"	"70"	"11"	"61719294"	"61719294"	"subst"	"0"	"00000"	"BEST1_000004"	"g.61719294A>C"	""	"{PMID:Boon 2009:19357557}"	""	"BEST1 c.16A>C, p.(Thr6Pro)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951822A>C"	""	"likely pathogenic"	""
"0000839972"	"0"	"70"	"11"	"61719294"	"61719294"	"subst"	"0"	"00000"	"BEST1_000004"	"g.61719294A>C"	""	"{PMID:Boon 2009:19357557}"	""	"BEST1 c.16A>C, p.(Thr6Pro)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951822A>C"	""	"likely pathogenic"	""
"0000839973"	"0"	"70"	"11"	"61719294"	"61719294"	"subst"	"0"	"00000"	"BEST1_000004"	"g.61719294A>C"	""	"{PMID:Boon 2009:19357557}"	""	"BEST1 c.16A>C, p.(Thr6Pro)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951822A>C"	""	"likely pathogenic"	""
"0000839974"	"0"	"70"	"11"	"61719294"	"61719294"	"subst"	"0"	"00000"	"BEST1_000004"	"g.61719294A>C"	""	"{PMID:Boon 2009:19357557}"	""	"BEST1 c.16A>C, p.(Thr6Pro)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951822A>C"	""	"likely pathogenic"	""
"0000839975"	"0"	"70"	"11"	"61719294"	"61719294"	"subst"	"0"	"00000"	"BEST1_000004"	"g.61719294A>C"	""	"{PMID:Boon 2009:19357557}"	""	"BEST1 c.16A>C, p.(Thr6Pro)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951822A>C"	""	"likely pathogenic"	""
"0000839976"	"0"	"70"	"11"	"61719294"	"61719294"	"subst"	"0"	"00000"	"BEST1_000004"	"g.61719294A>C"	""	"{PMID:Boon 2009:19357557}"	""	"BEST1 c.16A>C, p.(Thr6Pro)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951822A>C"	""	"likely pathogenic"	""
"0000839977"	"0"	"70"	"11"	"61724417"	"61724418"	"ins"	"0"	"00000"	"BEST1_000310"	"g.61724417_61724418insTGG"	""	"{PMID:Boon 2009:19357557}"	""	"BEST1 c.583_584insTGG, p.(Lys194_Ala195insVal)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956945_61956946insTGG"	""	"likely pathogenic"	""
"0000839978"	"0"	"70"	"11"	"61722670"	"61722670"	"subst"	"0"	"00000"	"BEST1_000011"	"g.61722670C>G"	""	"{PMID:Boon 2009:19357557}"	""	"BEST1 c.244C>G, p.(Leu82Val)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955198C>G"	""	"likely pathogenic"	""
"0000839979"	"0"	"70"	"11"	"61724901"	"61724901"	"subst"	"0"	"00000"	"BEST1_000022"	"g.61724901T>A"	""	"{PMID:Boon 2009:19357557}"	""	"BEST1 c.679T>A, p.(Tyr227Asn)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957429T>A"	""	"likely pathogenic"	""
"0000839980"	"0"	"70"	"11"	"61724901"	"61724901"	"subst"	"0"	"00000"	"BEST1_000022"	"g.61724901T>A"	""	"{PMID:Boon 2009:19357557}"	""	"BEST1 c.679T>A, p.(Tyr227Asn)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957429T>A"	""	"likely pathogenic"	""
"0000839981"	"0"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Boon 2009:19357557}"	""	"BEST1 c.728C>T, p.(Ala243Val)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958159C>T"	""	"likely pathogenic"	""
"0000839982"	"0"	"70"	"11"	"61719286"	"61719286"	"subst"	"0"	"00000"	"BEST1_000299"	"g.61719286T>C"	""	"{PMID:Boon 2009:19357557}"	""	"BEST1 c.8T>C, p.(Ile3Thr)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951814T>C"	""	"likely pathogenic"	""
"0000839983"	"0"	"70"	"11"	"61727006"	"61727014"	"del"	"0"	"00000"	"BEST1_000325"	"g.61727006_61727014del"	""	"{PMID:Boon 2009:19357557}"	""	"BEST1 c.904_912del, p.(Asp302_Asp304del)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959534_61959542del"	""	"likely pathogenic"	""
"0000839984"	"0"	"70"	"11"	"61727006"	"61727014"	"del"	"0"	"00000"	"BEST1_000325"	"g.61727006_61727014del"	""	"{PMID:Boon 2009:19357557}"	""	"BEST1 c.904_912del, p.(Asp302_Asp304del)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959534_61959542del"	""	"likely pathogenic"	""
"0000839985"	"0"	"70"	"11"	"61727006"	"61727014"	"del"	"0"	"00000"	"BEST1_000325"	"g.61727006_61727014del"	""	"{PMID:Boon 2009:19357557}"	""	"BEST1 c.904_912del, p.(Asp302_Asp304del)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959534_61959542del"	""	"likely pathogenic"	""
"0000839986"	"0"	"70"	"11"	"61726997"	"61726997"	"subst"	"0"	"00000"	"BEST1_000323"	"g.61726997G>C"	""	"{PMID:Boon 2009:19357557}"	""	"BEST1 c.895G>C, p.(Gly299Arg)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959525G>C"	""	"likely pathogenic"	""
"0000839987"	"0"	"70"	"11"	"61726997"	"61726997"	"subst"	"0"	"00000"	"BEST1_000323"	"g.61726997G>C"	""	"{PMID:Boon 2009:19357557}"	""	"BEST1 c.895G>C, p.(Gly299Arg)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959525G>C"	""	"likely pathogenic"	""
"0000839991"	"21"	"70"	"11"	"61726976"	"61726976"	"subst"	"0"	"00000"	"BEST1_000108"	"g.61726976G>A"	""	"{PMID:Sohn 2009:19597114}"	""	"BEST1 Glu292Lys"	"nucleotide change extrapolated from protein; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959504G>A"	""	"likely pathogenic"	""
"0000839992"	"10"	"70"	"11"	"61726976"	"61726976"	"subst"	"0"	"00000"	"BEST1_000108"	"g.61726976G>A"	""	"{PMID:Sohn 2009:19597114}"	""	"BEST1 Glu292Lys"	"nucleotide change extrapolated from protein; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959504G>A"	""	"likely pathogenic"	""
"0000839993"	"0"	"70"	"11"	"61726976"	"61726976"	"subst"	"0"	"00000"	"BEST1_000108"	"g.61726976G>A"	""	"{PMID:Sohn 2009:19597114}"	""	"BEST1 Glu292Lys"	"nucleotide change extrapolated from protein; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959504G>A"	""	"likely pathogenic"	""
"0000839994"	"20"	"70"	"11"	"61726976"	"61726976"	"subst"	"0"	"00000"	"BEST1_000108"	"g.61726976G>A"	""	"{PMID:Sohn 2009:19597114}"	""	"BEST1 Glu292Lys"	"nucleotide change extrapolated from protein; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959504G>A"	""	"likely pathogenic"	""
"0000840066"	"11"	"70"	"11"	"61724448"	"61724448"	"subst"	"0"	"00000"	"BEST1_000312"	"g.61724448T>C"	""	"{PMID:Davidson 2009:19853238}"	""	"BEST1 c.614T>C, p.I205T"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956976T>C"	""	"likely pathogenic"	""
"0000840067"	"0"	"70"	"11"	"61724448"	"61724448"	"subst"	"0"	"00000"	"BEST1_000312"	"g.61724448T>C"	""	"{PMID:Davidson 2009:19853238}"	""	"BEST1 c.614T>C, p.I205T"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956976T>C"	""	"likely pathogenic"	""
"0000840068"	"21"	"70"	"11"	"61724448"	"61724448"	"subst"	"0"	"00000"	"BEST1_000312"	"g.61724448T>C"	""	"{PMID:Davidson 2009:19853238}"	""	"BEST1 c.614T>C, p.I205T"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956976T>C"	""	"likely pathogenic"	""
"0000840069"	"21"	"70"	"11"	"61724448"	"61724448"	"subst"	"0"	"00000"	"BEST1_000312"	"g.61724448T>C"	""	"{PMID:Davidson 2009:19853238}"	""	"BEST1 c.614T>C, p.I205T"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956976T>C"	""	"likely pathogenic"	""
"0000840070"	"21"	"70"	"11"	"61724448"	"61724448"	"subst"	"0"	"00000"	"BEST1_000312"	"g.61724448T>C"	""	"{PMID:Davidson 2009:19853238}"	""	"BEST1 c.614T>C, p.I205T"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956976T>C"	""	"likely pathogenic"	""
"0000840071"	"21"	"70"	"11"	"61724448"	"61724448"	"subst"	"0"	"00000"	"BEST1_000312"	"g.61724448T>C"	""	"{PMID:Davidson 2009:19853238}"	""	"BEST1 c.614T>C, p.I205T"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956976T>C"	""	"likely pathogenic"	""
"0000840072"	"21"	"70"	"11"	"61724448"	"61724448"	"subst"	"0"	"00000"	"BEST1_000312"	"g.61724448T>C"	""	"{PMID:Davidson 2009:19853238}"	""	"BEST1 c.614T>C, p.I205T"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956976T>C"	""	"likely pathogenic"	""
"0000840073"	"11"	"70"	"11"	"61724448"	"61724448"	"subst"	"0"	"00000"	"BEST1_000312"	"g.61724448T>C"	""	"{PMID:Davidson 2009:19853238}"	""	"BEST1 c.614T>C, p.I205T"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956976T>C"	""	"likely pathogenic"	""
"0000840074"	"11"	"70"	"11"	"61724448"	"61724448"	"subst"	"0"	"00000"	"BEST1_000312"	"g.61724448T>C"	""	"{PMID:Davidson 2009:19853238}"	""	"BEST1 c.614T>C, p.I205T"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956976T>C"	""	"likely pathogenic"	""
"0000840075"	"11"	"70"	"11"	"61724448"	"61724448"	"subst"	"0"	"00000"	"BEST1_000312"	"g.61724448T>C"	""	"{PMID:Davidson 2009:19853238}"	""	"BEST1 c.614T>C, p.I205T"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956976T>C"	""	"likely pathogenic"	""
"0000840076"	"10"	"90"	"11"	"61724904"	"61724904"	"subst"	"4.06072E-6"	"00000"	"BEST1_000060"	"g.61724904G>A"	""	"{PMID:Davidson 2009:19853238}"	""	"BEST1 c.682G>A, p.D228N"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957432G>A"	""	"pathogenic"	""
"0000840077"	"10"	"90"	"11"	"61724904"	"61724904"	"subst"	"4.06072E-6"	"00000"	"BEST1_000060"	"g.61724904G>A"	""	"{PMID:Davidson 2009:19853238}"	""	"BEST1 c.682G>A, p.D228N"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957432G>A"	""	"pathogenic"	""
"0000840078"	"21"	"90"	"11"	"61724904"	"61724904"	"subst"	"4.06072E-6"	"00000"	"BEST1_000060"	"g.61724904G>A"	""	"{PMID:Davidson 2009:19853238}"	""	"BEST1 c.682G>A, p.D228N"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957432G>A"	""	"pathogenic"	""
"0000840079"	"0"	"90"	"11"	"61724904"	"61724904"	"subst"	"4.06072E-6"	"00000"	"BEST1_000060"	"g.61724904G>A"	""	"{PMID:Davidson 2009:19853238}"	""	"BEST1 c.682G>A, p.D228N"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957432G>A"	""	"pathogenic"	""
"0000840080"	"0"	"90"	"11"	"61724902"	"61724902"	"subst"	"0"	"00000"	"BEST1_000136"	"g.61724902A>G"	""	"{PMID:Davidson 2009:19853238}"	""	"BEST1 c.680A>G, p.Y227C"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957430A>G"	""	"pathogenic"	""
"0000840081"	"3"	"90"	"11"	"61723360"	"61723360"	"subst"	"3.49572E-5"	"00000"	"BEST1_000202"	"g.61723360C>G"	""	"{PMID:Davidson 2009:19853238}"	""	"BEST1 c.418C>G, p.L140V"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955888C>G"	""	"pathogenic"	""
"0000840082"	"0"	"90"	"11"	"61723360"	"61723360"	"subst"	"3.49572E-5"	"00000"	"BEST1_000202"	"g.61723360C>G"	""	"{PMID:Davidson 2009:19853238}"	""	"BEST1 c.418C>G, p.L140V"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955888C>G"	""	"pathogenic"	""
"0000840083"	"3"	"90"	"11"	"61723360"	"61723360"	"subst"	"3.49572E-5"	"00000"	"BEST1_000202"	"g.61723360C>G"	""	"{PMID:Davidson 2009:19853238}"	""	"BEST1 c.418C>G, p.L140V"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955888C>G"	""	"pathogenic"	""
"0000840088"	"0"	"70"	"11"	"61722649"	"61722649"	"subst"	"4.06098E-6"	"00000"	"BEST1_000302"	"g.61722649C>T"	""	"{PMID:Wong 2009:20057343}"	""	"BEST1 Leu75Phe (c.223C->T)"	"heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61955177C>T"	""	"likely pathogenic"	""
"0000840089"	"0"	"70"	"11"	"61722649"	"61722649"	"subst"	"4.06098E-6"	"00000"	"BEST1_000302"	"g.61722649C>T"	""	"{PMID:Wong 2009:20057343}"	""	"BEST1 Leu75Phe (c.223C->T)"	"heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61955177C>T"	""	"likely pathogenic"	""
"0000840090"	"3"	"70"	"11"	"61722649"	"61722649"	"subst"	"4.06098E-6"	"00000"	"BEST1_000302"	"g.61722649C>T"	""	"{PMID:Wong 2009:20057343}"	""	"BEST1 Leu75Phe (c.223C->T)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955177C>T"	""	"likely pathogenic"	""
"0000840091"	"3"	"70"	"11"	"61722649"	"61722649"	"subst"	"4.06098E-6"	"00000"	"BEST1_000302"	"g.61722649C>T"	""	"{PMID:Wong 2009:20057343}"	""	"BEST1 Leu75Phe (c.223C->T)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955177C>T"	""	"likely pathogenic"	""
"0000840092"	"1"	"70"	"11"	"61722649"	"61722649"	"subst"	"4.06098E-6"	"00000"	"BEST1_000302"	"g.61722649C>T"	""	"{PMID:Wong 2009:20057343}"	""	"BEST1 Leu75Phe (c.223C->T)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955177C>T"	""	"likely pathogenic"	""
"0000840093"	"11"	"70"	"11"	"61722649"	"61722649"	"subst"	"4.06098E-6"	"00000"	"BEST1_000302"	"g.61722649C>T"	""	"{PMID:Wong 2009:20057343}"	""	"BEST1 Leu75Phe (c.223C->T)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955177C>T"	""	"likely pathogenic"	""
"0000840094"	"11"	"70"	"11"	"61722649"	"61722649"	"subst"	"4.06098E-6"	"00000"	"BEST1_000302"	"g.61722649C>T"	""	"{PMID:Wong 2009:20057343}"	""	"BEST1 Leu75Phe (c.223C->T)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955177C>T"	""	"likely pathogenic"	""
"0000840095"	"11"	"70"	"11"	"61722649"	"61722649"	"subst"	"4.06098E-6"	"00000"	"BEST1_000302"	"g.61722649C>T"	""	"{PMID:Wong 2009:20057343}"	""	"BEST1 Leu75Phe (c.223C->T)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955177C>T"	""	"likely pathogenic"	""
"0000840096"	"11"	"70"	"11"	"61722649"	"61722649"	"subst"	"4.06098E-6"	"00000"	"BEST1_000302"	"g.61722649C>T"	""	"{PMID:Wong 2009:20057343}"	""	"BEST1 Leu75Phe (c.223C->T)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955177C>T"	""	"likely pathogenic"	""
"0000840097"	"0"	"70"	"11"	"61725666"	"61725666"	"subst"	"5.27893E-5"	"00000"	"BEST1_000063"	"g.61725666C>T"	""	"{PMID:Wong 2009:20057343}"	""	"BEST1 Arg255Trp (c.763C->T)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958194C>T"	""	"likely pathogenic"	""
"0000840098"	"0"	"70"	"11"	"61723373"	"61723373"	"subst"	"0"	"00000"	"BEST1_000307"	"g.61723373G>A"	""	"{PMID:Wong 2009:20057343}"	""	"BEST1 Ser144Asn (c.431G->A)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955901G>A"	""	"likely pathogenic"	""
"0000840099"	"0"	"70"	"11"	"61726991"	"61726991"	"subst"	"0"	"00000"	"BEST1_000321"	"g.61726991C>A"	""	"{PMID:Wong 2009:20057343}"	""	"BEST1 Pro297Thr (c.889C->A)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959519C>A"	""	"likely pathogenic"	""
"0000840100"	"0"	"70"	"11"	"61719283"	"61719283"	"subst"	"0"	"00000"	"BEST1_000298"	"g.61719283C>A"	""	"{PMID:Wong 2009:20057343}"	""	"BEST1 Thr2Asn (c.5C->A)"	"heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61951811C>A"	""	"likely pathogenic"	""
"0000840101"	"11"	"70"	"11"	"61719283"	"61719283"	"subst"	"0"	"00000"	"BEST1_000298"	"g.61719283C>A"	""	"{PMID:Wong 2009:20057343}"	""	"BEST1 Thr2Asn (c.5C->A)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951811C>A"	""	"likely pathogenic"	""
"0000840102"	"0"	"70"	"11"	"61727004"	"61727004"	"subst"	"0"	"00000"	"BEST1_000324"	"g.61727004A>G"	""	"{PMID:Wong 2009:20057343}"	""	"BEST1 Asp301Gly (c.902A->G)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959532A>G"	""	"likely pathogenic"	""
"0000840103"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Wong 2009:20057343}"	""	"BEST1 Arg218Cys (c.652C->T)"	"heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000840104"	"21"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Wong 2009:20057343}"	""	"BEST1 Arg218Cys (c.652C->T)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000840105"	"21"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Wong 2009:20057343}"	""	"BEST1 Arg218Cys (c.652C->T)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000840120"	"11"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Querques 2009:20057903}"	""	"BEST1 C>T728, A243V"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958159C>T"	""	"likely pathogenic"	""
"0000840121"	"11"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Querques 2009:20057903}"	""	"BEST1 C>T728, A243V"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958159C>T"	""	"likely pathogenic"	""
"0000840122"	"0"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Querques 2009:20057903}"	""	"BEST1 C>T728, A243V"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958159C>T"	""	"likely pathogenic"	""
"0000840123"	"21"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Querques 2009:20057903}"	""	"BEST1 C>T728, A243V"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958159C>T"	""	"likely pathogenic"	""
"0000840124"	"21"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Querques 2009:20057903}"	""	"BEST1 C>T728, A243V"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958159C>T"	""	"likely pathogenic"	""
"0000840125"	"10"	"70"	"11"	"61723217"	"61723217"	"subst"	"0"	"00000"	"BEST1_000260"	"g.61723217G>A"	""	"{PMID:Querques 2009:20057903}"	""	"BEST1 G>A275, R92G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955745G>A"	""	"likely pathogenic"	""
"0000840126"	"10"	"70"	"11"	"61723217"	"61723217"	"subst"	"0"	"00000"	"BEST1_000260"	"g.61723217G>A"	""	"{PMID:Querques 2009:20057903}"	""	"BEST1 G>A275, R92G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955745G>A"	""	"likely pathogenic"	""
"0000840127"	"3"	"70"	"11"	"61723216"	"61723216"	"subst"	"0"	"00000"	"BEST1_000258"	"g.61723216C>T"	""	"{PMID:Querques 2009:20057903}"	""	"BEST1 C>T274, R92C"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955744C>T"	""	"likely pathogenic"	""
"0000840128"	"11"	"70"	"11"	"61719322"	"61719322"	"subst"	"0"	"00000"	"BEST1_000221"	"g.61719322G>A"	""	"{PMID:Querques 2009:20057903}"	""	"BEST1 G>A44, G15D"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951850G>A"	""	"likely pathogenic"	""
"0000840129"	"0"	"70"	"11"	"61719322"	"61719322"	"subst"	"0"	"00000"	"BEST1_000221"	"g.61719322G>A"	""	"{PMID:Querques 2009:20057903}"	""	"BEST1 G>A44, G15D"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951850G>A"	""	"likely pathogenic"	""
"0000840130"	"10"	"70"	"11"	"61723216"	"61723216"	"subst"	"0"	"00000"	"BEST1_000258"	"g.61723216C>T"	""	"{PMID:Querques 2009:20057903}"	""	"BEST1 C>T274, R92C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955744C>T"	""	"likely pathogenic"	""
"0000840131"	"21"	"70"	"11"	"61724911"	"61724911"	"subst"	"0"	"00000"	"BEST1_000315"	"g.61724911T>C"	""	"{PMID:Querques 2009:20057903}"	""	"BEST1 T>C791, I230T"	"error in annotation: p.Ile230Thr is caused by c.689T>C, and not 791T>C; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957439T>C"	""	"likely pathogenic"	""
"0000840132"	"10"	"70"	"11"	"61724911"	"61724911"	"subst"	"0"	"00000"	"BEST1_000315"	"g.61724911T>C"	""	"{PMID:Querques 2009:20057903}"	""	"BEST1 T>C791, I230T"	"error in annotation: p.Ile230Thr is caused by c.689T>C, and not 791T>C; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957439T>C"	""	"likely pathogenic"	""
"0000840133"	"21"	"70"	"11"	"61724911"	"61724911"	"subst"	"0"	"00000"	"BEST1_000315"	"g.61724911T>C"	""	"{PMID:Querques 2009:20057903}"	""	"BEST1 T>C791, I230T"	"error in annotation: p.Ile230Thr is caused by c.689T>C, and not 791T>C; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957439T>C"	""	"likely pathogenic"	""
"0000840134"	"20"	"70"	"11"	"61723214"	"61723214"	"subst"	"0"	"00000"	"BEST1_000257"	"g.61723214C>T"	""	"{PMID:Querques 2009:20057903}"	""	"BEST1 C>T272, T91I"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955742C>T"	""	"likely pathogenic"	""
"0000840135"	"11"	"70"	"11"	"61723214"	"61723214"	"subst"	"0"	"00000"	"BEST1_000257"	"g.61723214C>T"	""	"{PMID:Querques 2009:20057903}"	""	"BEST1 C>T272, T91I"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955742C>T"	""	"likely pathogenic"	""
"0000840136"	"10"	"70"	"11"	"61719288"	"61719288"	"subst"	"0"	"00000"	"BEST1_000300"	"g.61719288A>G"	""	"{PMID:Querques 2009:20057903}"	""	"BEST1 A>G10, T4A"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951816A>G"	""	"likely pathogenic"	""
"0000840137"	"10"	"70"	"11"	"61719288"	"61719288"	"subst"	"0"	"00000"	"BEST1_000300"	"g.61719288A>G"	""	"{PMID:Querques 2009:20057903}"	""	"BEST1 A>G10, T4A"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951816A>G"	""	"likely pathogenic"	""
"0000840138"	"21"	"70"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:Querques 2009:20057903}"	""	"BEST1 C>T73, R25W"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951879C>T"	""	"likely pathogenic"	""
"0000840139"	"11"	"70"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:Querques 2009:20057903}"	""	"BEST1 C>T73, R25W"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951879C>T"	""	"likely pathogenic"	""
"0000840140"	"0"	"70"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:Querques 2009:20057903}"	""	"BEST1 C>T73, R25W"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951879C>T"	""	"likely pathogenic"	""
"0000840141"	"0"	"70"	"11"	"61719304"	"61719304"	"subst"	"0"	"00000"	"BEST1_000244"	"g.61719304T>C"	""	"{PMID:Querques 2009:20057903}"	""	"BEST1 T>C26, V9A"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951832T>C"	""	"likely pathogenic"	""
"0000840142"	"11"	"70"	"11"	"61719304"	"61719304"	"subst"	"0"	"00000"	"BEST1_000244"	"g.61719304T>C"	""	"{PMID:Querques 2009:20057903}"	""	"BEST1 T>C26, V9A"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951832T>C"	""	"likely pathogenic"	""
"0000840688"	"0"	"70"	"11"	"61719365"	"61719365"	"subst"	"0"	"00000"	"BEST1_000016"	"g.61719365C>G"	""	"{PMID:Schatz 2010:20375334}"	""	"BEST1 c.87C>G, p.Tyr29stop"	"\"\"BEST1 mutation reported previously by us\"\" may mean mutations, but also families (possible duplicates from Eksandh 2001, Schatz 2006); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951893C>G"	""	"likely pathogenic"	""
"0000840689"	"0"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Schatz 2010:20375334}"	""	"BEST1 c.422G>A, p.Arg141His"	"\"\"BEST1 mutation reported previously by us\"\" may mean mutations, but also families (possible duplicates from Eksandh 2001, Schatz 2006); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic"	""
"0000840690"	"11"	"70"	"11"	"61719365"	"61719365"	"subst"	"0"	"00000"	"BEST1_000016"	"g.61719365C>G"	""	"{PMID:Schatz 2010:20375334}"	""	"BEST1 c.87C>G, p.Tyr29stop"	"\"\"BEST1 mutation reported previously by us\"\" may mean mutations, but also families (possible duplicates from Eksandh 2001, Schatz 2006); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951893C>G"	""	"likely pathogenic"	""
"0000840691"	"11"	"70"	"11"	"61719365"	"61719365"	"subst"	"0"	"00000"	"BEST1_000016"	"g.61719365C>G"	""	"{PMID:Schatz 2010:20375334}"	""	"BEST1 c.87C>G, p.Tyr29stop"	"\"\"BEST1 mutation reported previously by us\"\" may mean mutations, but also families (possible duplicates from Eksandh 2001, Schatz 2006); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951893C>G"	""	"likely pathogenic"	""
"0000840692"	"0"	"70"	"11"	"61723208"	"61723208"	"subst"	"0"	"00000"	"BEST1_000256"	"g.61723208T>C"	""	"{PMID:Schatz 2010:20375334}"	""	"BEST1 c.266T>C, p.Val89Ala"	"\"\"BEST1 mutation reported previously by us\"\" may mean mutations, but also families (possible duplicates from Eksandh 2001, Schatz 2006); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955736T>C"	""	"likely pathogenic"	""
"0000840693"	"11"	"70"	"11"	"61723208"	"61723208"	"subst"	"0"	"00000"	"BEST1_000256"	"g.61723208T>C"	""	"{PMID:Schatz 2010:20375334}"	""	"BEST1 c.266T>C, p.Val89Ala"	"\"\"BEST1 mutation reported previously by us\"\" may mean mutations, but also families (possible duplicates from Eksandh 2001, Schatz 2006); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955736T>C"	""	"likely pathogenic"	""
"0000840694"	"21"	"70"	"11"	"61723208"	"61723208"	"subst"	"0"	"00000"	"BEST1_000256"	"g.61723208T>C"	""	"{PMID:Schatz 2010:20375334}"	""	"BEST1 c.266T>C, p.Val89Ala"	"\"\"BEST1 mutation reported previously by us\"\" may mean mutations, but also families (possible duplicates from Eksandh 2001, Schatz 2006); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955736T>C"	""	"likely pathogenic"	""
"0000840695"	"0"	"70"	"11"	"61723254"	"61723254"	"subst"	"0"	"00000"	"BEST1_000264"	"g.61723254C>A"	""	"{PMID:Schatz 2010:20375334}"	""	"BEST1 c.312C>A, p.Asp104Glu"	"\"\"BEST1 mutation reported previously by us\"\" may mean mutations, but also families (possible duplicates from Eksandh 2001, Schatz 2006); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955782C>A"	""	"likely pathogenic"	""
"0000840696"	"21"	"70"	"11"	"61723195"	"61723195"	"subst"	"0"	"00000"	"BEST1_000186"	"g.61723195T>C"	""	"{PMID:Schatz 2010:20375334}"	""	"BEST1 c.253T>C, p.Tyr85His"	"\"\"BEST1 mutation reported previously by us\"\" may mean mutations, but also families (possible duplicates from Eksandh 2001, Schatz 2006); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955723T>C"	""	"likely pathogenic"	""
"0000840697"	"10"	"70"	"11"	"61723195"	"61723195"	"subst"	"0"	"00000"	"BEST1_000186"	"g.61723195T>C"	""	"{PMID:Schatz 2010:20375334}"	""	"BEST1 c.253T>C, p.Tyr85His"	"\"\"BEST1 mutation reported previously by us\"\" may mean mutations, but also families (possible duplicates from Eksandh 2001, Schatz 2006); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955723T>C"	""	"likely pathogenic"	""
"0000840698"	"20"	"70"	"11"	"61723195"	"61723195"	"subst"	"0"	"00000"	"BEST1_000186"	"g.61723195T>C"	""	"{PMID:Schatz 2010:20375334}"	""	"BEST1 c.253T>C, p.Tyr85His"	"\"\"BEST1 mutation reported previously by us\"\" may mean mutations, but also families (possible duplicates from Eksandh 2001, Schatz 2006); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955723T>C"	""	"likely pathogenic"	""
"0000840699"	"10"	"70"	"11"	"61723195"	"61723195"	"subst"	"0"	"00000"	"BEST1_000186"	"g.61723195T>C"	""	"{PMID:Schatz 2010:20375334}"	""	"BEST1 c.253T>C, p.Tyr85His"	"\"\"BEST1 mutation reported previously by us\"\" may mean mutations, but also families (possible duplicates from Eksandh 2001, Schatz 2006); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955723T>C"	""	"likely pathogenic"	""
"0000840700"	"21"	"70"	"11"	"61723195"	"61723195"	"subst"	"0"	"00000"	"BEST1_000186"	"g.61723195T>C"	""	"{PMID:Schatz 2010:20375334}"	""	"BEST1 c.253T>C, p.Tyr85His"	"\"\"BEST1 mutation reported previously by us\"\" may mean mutations, but also families (possible duplicates from Eksandh 2001, Schatz 2006); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955723T>C"	""	"likely pathogenic"	""
"0000840701"	"10"	"70"	"11"	"61719304"	"61719304"	"subst"	"0"	"00000"	"BEST1_000244"	"g.61719304T>C"	""	"{PMID:Schatz 2010:20375334}"	""	"BEST1 c.26T>C, p.Val9Ala"	"\"\"BEST1 mutation reported previously by us\"\" may mean mutations, but also families (possible duplicates from Eksandh 2001, Schatz 2006); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951832T>C"	""	"likely pathogenic"	""
"0000840702"	"21"	"70"	"11"	"61719304"	"61719304"	"subst"	"0"	"00000"	"BEST1_000244"	"g.61719304T>C"	""	"{PMID:Schatz 2010:20375334}"	""	"BEST1 c.26T>C, p.Val9Ala"	"\"\"BEST1 mutation reported previously by us\"\" may mean mutations, but also families (possible duplicates from Eksandh 2001, Schatz 2006); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951832T>C"	""	"likely pathogenic"	""
"0000840703"	"21"	"70"	"11"	"61723195"	"61723195"	"subst"	"0"	"00000"	"BEST1_000186"	"g.61723195T>C"	""	"{PMID:Schatz 2010:20375334}"	""	"BEST1 c.253T>C, p.Tyr85His"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955723T>C"	""	"likely pathogenic"	""
"0000840704"	"21"	"70"	"11"	"61723195"	"61723195"	"subst"	"0"	"00000"	"BEST1_000186"	"g.61723195T>C"	""	"{PMID:Schatz 2010:20375334}"	""	"BEST1 c.253T>C, p.Tyr85His"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955723T>C"	""	"likely pathogenic"	""
"0000840705"	"11"	"70"	"11"	"61723195"	"61723195"	"subst"	"0"	"00000"	"BEST1_000186"	"g.61723195T>C"	""	"{PMID:Schatz 2010:20375334}"	""	"BEST1 c.253T>C, p.Tyr85His"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955723T>C"	""	"likely pathogenic"	""
"0000840706"	"0"	"70"	"11"	"61727038"	"61727038"	"subst"	"3.65533E-5"	"00000"	"BEST1_000203"	"g.61727038C>A"	""	"{PMID:Schatz 2010:20375334}"	""	"BEST1 c.936C>A, p.Asp312Glu"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959566C>A"	""	"likely pathogenic"	""
"0000840707"	"3"	"70"	"11"	"61727038"	"61727038"	"subst"	"3.65533E-5"	"00000"	"BEST1_000203"	"g.61727038C>A"	""	"{PMID:Schatz 2010:20375334}"	""	"BEST1 c.936C>A, p.Asp312Glu"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959566C>A"	""	"likely pathogenic"	""
"0000840708"	"0"	"70"	"11"	"61723217"	"61723217"	"subst"	"0"	"00000"	"BEST1_000260"	"g.61723217G>A"	""	"{PMID:Schatz 2010:20375334}"	""	"BEST1 c.275G>A, p.Arg92His"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955745G>A"	""	"likely pathogenic"	""
"0000840709"	"11"	"70"	"11"	"61723217"	"61723217"	"subst"	"0"	"00000"	"BEST1_000260"	"g.61723217G>A"	""	"{PMID:Schatz 2010:20375334}"	""	"BEST1 c.275G>A, p.Arg92His"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955745G>A"	""	"likely pathogenic"	""
"0000840710"	"0"	"70"	"11"	"61722670"	"61722670"	"subst"	"0"	"00000"	"BEST1_000011"	"g.61722670C>G"	""	"{PMID:Schatz 2010:20375334}"	""	"BEST1 c.244C>G, p.Leu82Val"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955198C>G"	""	"likely pathogenic"	""
"0000840711"	"0"	"70"	"11"	"61722670"	"61722670"	"subst"	"0"	"00000"	"BEST1_000011"	"g.61722670C>G"	""	"{PMID:Schatz 2010:20375334}"	""	"BEST1 c.244C>G, p.Leu82Val"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955198C>G"	""	"likely pathogenic"	""
"0000840712"	"21"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Schatz 2010:20375334}"	""	"BEST1 c.422G>A, p.Arg141His"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic"	""
"0000840713"	"21"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Schatz 2010:20375334}"	""	"BEST1 c.422G>A, p.Arg141His"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic"	""
"0000840722"	"10"	"70"	"11"	"61723198"	"61723198"	"subst"	"0"	"00000"	"BEST1_000101"	"g.61723198G>A"	""	"{PMID:Vincent 2011:21072067}"	""	"BEST1 p.V86M (c.256G>A)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955726G>A"	""	"likely pathogenic"	""
"0000840723"	"21"	"70"	"11"	"61723198"	"61723198"	"subst"	"0"	"00000"	"BEST1_000101"	"g.61723198G>A"	""	"{PMID:Vincent 2011:21072067}"	""	"BEST1 p.V86M (c.256G>A)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955726G>A"	""	"likely pathogenic"	""
"0000840724"	"11"	"70"	"11"	"61723198"	"61723198"	"subst"	"0"	"00000"	"BEST1_000101"	"g.61723198G>A"	""	"{PMID:Vincent 2011:21072067}"	""	"BEST1 p.V86M (c.256G>A)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955726G>A"	""	"likely pathogenic"	""
"0000840729"	"0"	"70"	"11"	"61719350"	"61719350"	"subst"	"0"	"00000"	"BEST1_000170"	"g.61719350G>T"	""	"{PMID:Chacon-Camacho 2011:21077756}"	""	"BEST1 W24C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951878G>T"	""	"likely pathogenic"	""
"0000840730"	"11"	"70"	"11"	"61719350"	"61719350"	"subst"	"0"	"00000"	"BEST1_000170"	"g.61719350G>T"	""	"{PMID:Chacon-Camacho 2011:21077756}"	""	"BEST1 W24C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951878G>T"	""	"likely pathogenic"	""
"0000840731"	"11"	"70"	"11"	"61719350"	"61719350"	"subst"	"0"	"00000"	"BEST1_000170"	"g.61719350G>T"	""	"{PMID:Chacon-Camacho 2011:21077756}"	""	"BEST1 W24C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951878G>T"	""	"likely pathogenic"	""
"0000840732"	"21"	"70"	"11"	"61719350"	"61719350"	"subst"	"0"	"00000"	"BEST1_000170"	"g.61719350G>T"	""	"{PMID:Chacon-Camacho 2011:21077756}"	""	"BEST1 W24C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951878G>T"	""	"likely pathogenic"	""
"0000840733"	"21"	"70"	"11"	"61719350"	"61719350"	"subst"	"0"	"00000"	"BEST1_000170"	"g.61719350G>T"	""	"{PMID:Chacon-Camacho 2011:21077756}"	""	"BEST1 W24C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951878G>T"	""	"likely pathogenic"	""
"0000840734"	"21"	"70"	"11"	"61719350"	"61719350"	"subst"	"0"	"00000"	"BEST1_000170"	"g.61719350G>T"	""	"{PMID:Chacon-Camacho 2011:21077756}"	""	"BEST1 W24C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951878G>T"	""	"likely pathogenic"	""
"0000840735"	"11"	"70"	"11"	"61719350"	"61719350"	"subst"	"0"	"00000"	"BEST1_000170"	"g.61719350G>T"	""	"{PMID:Chacon-Camacho 2011:21077756}"	""	"BEST1 W24C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951878G>T"	""	"likely pathogenic"	""
"0000840736"	"10"	"70"	"11"	"61726979"	"61726979"	"subst"	"0"	"00000"	"BEST1_000029"	"g.61726979C>A"	""	"{PMID:Chacon-Camacho 2011:21077756}"	""	"BEST1  Q293K"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959507C>A"	""	"likely pathogenic"	""
"0000840737"	"11"	"70"	"11"	"61726979"	"61726979"	"subst"	"0"	"00000"	"BEST1_000029"	"g.61726979C>A"	""	"{PMID:Chacon-Camacho 2011:21077756}"	""	"BEST1  Q293K"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959507C>A"	""	"likely pathogenic"	""
"0000840738"	"11"	"70"	"11"	"61726979"	"61726979"	"subst"	"0"	"00000"	"BEST1_000029"	"g.61726979C>A"	""	"{PMID:Chacon-Camacho 2011:21077756}"	""	"BEST1  Q293K"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959507C>A"	""	"likely pathogenic"	""
"0000840739"	"11"	"70"	"11"	"61726979"	"61726979"	"subst"	"0"	"00000"	"BEST1_000029"	"g.61726979C>A"	""	"{PMID:Chacon-Camacho 2011:21077756}"	""	"BEST1  Q293K"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959507C>A"	""	"likely pathogenic"	""
"0000840777"	"0"	"70"	"11"	"61724884"	"61724884"	"subst"	"0"	"00000"	"BEST1_000314"	"g.61724884G>T"	""	"{PMID:Cohn 2010:21109774}"	""	"BEST1 c.662G>T, p.(Cys221Phe)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957412G>T"	""	"likely pathogenic"	""
"0000840778"	"0"	"70"	"11"	"61724884"	"61724884"	"subst"	"0"	"00000"	"BEST1_000314"	"g.61724884G>T"	""	"{PMID:Cohn 2010:21109774}"	""	"BEST1 c.662G>T, p.(Cys221Phe)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957412G>T"	""	"likely pathogenic"	""
"0000840779"	"0"	"70"	"11"	"61724884"	"61724884"	"subst"	"0"	"00000"	"BEST1_000314"	"g.61724884G>T"	""	"{PMID:Cohn 2010:21109774}"	""	"BEST1 c.662G>T, p.(Cys221Phe)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957412G>T"	""	"likely pathogenic"	""
"0000840780"	"0"	"70"	"11"	"61724884"	"61724884"	"subst"	"0"	"00000"	"BEST1_000314"	"g.61724884G>T"	""	"{PMID:Cohn 2010:21109774}"	""	"BEST1 c.662G>T, p.(Cys221Phe)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957412G>T"	""	"likely pathogenic"	""
"0000840781"	"0"	"70"	"11"	"61727031"	"61727031"	"subst"	"0"	"00000"	"BEST1_000035"	"g.61727031T>C"	""	"{PMID:Cohn 2010:21109774}"	""	"BEST1 c.929T>C, p.(Ile310Thr)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959559T>C"	""	"likely pathogenic"	""
"0000840782"	"0"	"70"	"11"	"61727031"	"61727031"	"subst"	"0"	"00000"	"BEST1_000035"	"g.61727031T>C"	""	"{PMID:Cohn 2010:21109774}"	""	"BEST1 c.929T>C, p.(Ile310Thr)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959559T>C"	""	"likely pathogenic"	""
"0000840783"	"0"	"70"	"11"	"61727031"	"61727031"	"subst"	"0"	"00000"	"BEST1_000035"	"g.61727031T>C"	""	"{PMID:Cohn 2010:21109774}"	""	"BEST1 c.929T>C, p.(Ile310Thr)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959559T>C"	""	"likely pathogenic"	""
"0000840784"	"0"	"70"	"11"	"61723237"	"61723237"	"subst"	"0"	"00000"	"BEST1_000305"	"g.61723237A>T"	""	"{PMID:Cohn 2010:21109774}"	""	"BEST1 c.295A>T, p.(Asn99Tyr)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955765A>T"	""	"likely pathogenic"	""
"0000840785"	"0"	"70"	"11"	"61723237"	"61723237"	"subst"	"0"	"00000"	"BEST1_000305"	"g.61723237A>T"	""	"{PMID:Cohn 2010:21109774}"	""	"BEST1 c.295A>T, p.(Asn99Tyr)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955765A>T"	""	"likely pathogenic"	""
"0000840786"	"0"	"70"	"11"	"61723237"	"61723237"	"subst"	"0"	"00000"	"BEST1_000305"	"g.61723237A>T"	""	"{PMID:Cohn 2010:21109774}"	""	"BEST1 c.295A>T, p.(Asn99Tyr)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955765A>T"	""	"likely pathogenic"	""
"0000840787"	"0"	"70"	"11"	"61723237"	"61723237"	"subst"	"0"	"00000"	"BEST1_000305"	"g.61723237A>T"	""	"{PMID:Cohn 2010:21109774}"	""	"BEST1 c.295A>T, p.(Asn99Tyr)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955765A>T"	""	"likely pathogenic"	""
"0000840788"	"0"	"70"	"11"	"61724884"	"61724884"	"subst"	"0"	"00000"	"BEST1_000314"	"g.61724884G>T"	""	"{PMID:Cohn 2010:21109774}"	""	"BEST1 c.662G>T, p.(Cys221Phe)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957412G>T"	""	"likely pathogenic"	""
"0000840789"	"0"	"70"	"11"	"61724884"	"61724884"	"subst"	"0"	"00000"	"BEST1_000314"	"g.61724884G>T"	""	"{PMID:Cohn 2010:21109774}"	""	"BEST1 c.662G>T, p.(Cys221Phe)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957412G>T"	""	"likely pathogenic"	""
"0000840790"	"0"	"70"	"11"	"61724884"	"61724884"	"subst"	"0"	"00000"	"BEST1_000314"	"g.61724884G>T"	""	"{PMID:Cohn 2010:21109774}"	""	"BEST1 c.662G>T, p.(Cys221Phe)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957412G>T"	""	"likely pathogenic"	""
"0000840791"	"0"	"70"	"11"	"61724884"	"61724884"	"subst"	"0"	"00000"	"BEST1_000314"	"g.61724884G>T"	""	"{PMID:Cohn 2010:21109774}"	""	"BEST1 c.662G>T, p.(Cys221Phe)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957412G>T"	""	"likely pathogenic"	""
"0000840792"	"0"	"70"	"11"	"61724884"	"61724884"	"subst"	"0"	"00000"	"BEST1_000314"	"g.61724884G>T"	""	"{PMID:Cohn 2010:21109774}"	""	"BEST1 c.662G>T, p.(Cys221Phe)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957412G>T"	""	"likely pathogenic"	""
"0000840793"	"0"	"70"	"11"	"61724884"	"61724884"	"subst"	"0"	"00000"	"BEST1_000314"	"g.61724884G>T"	""	"{PMID:Cohn 2010:21109774}"	""	"BEST1 c.662G>T, p.(Cys221Phe)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957412G>T"	""	"likely pathogenic"	""
"0000840794"	"0"	"70"	"11"	"61724884"	"61724884"	"subst"	"0"	"00000"	"BEST1_000314"	"g.61724884G>T"	""	"{PMID:Cohn 2010:21109774}"	""	"BEST1 c.662G>T, p.(Cys221Phe)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957412G>T"	""	"likely pathogenic"	""
"0000840795"	"0"	"70"	"11"	"61724884"	"61724884"	"subst"	"0"	"00000"	"BEST1_000314"	"g.61724884G>T"	""	"{PMID:Cohn 2010:21109774}"	""	"BEST1 c.662G>T, p.(Cys221Phe)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957412G>T"	""	"likely pathogenic"	""
"0000840796"	"0"	"70"	"11"	"61724884"	"61724884"	"subst"	"0"	"00000"	"BEST1_000314"	"g.61724884G>T"	""	"{PMID:Cohn 2010:21109774}"	""	"BEST1 c.662G>T, p.(Cys221Phe)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957412G>T"	""	"likely pathogenic"	""
"0000840797"	"0"	"70"	"11"	"61722652"	"61722652"	"subst"	"0"	"00000"	"BEST1_000303"	"g.61722652A>G"	""	"{PMID:Cohn 2010:21109774}"	""	"BEST1 c.226A>G, p.(Ile76Val)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955180A>G"	""	"likely pathogenic"	""
"0000840798"	"0"	"70"	"11"	"61722652"	"61722652"	"subst"	"0"	"00000"	"BEST1_000303"	"g.61722652A>G"	""	"{PMID:Cohn 2010:21109774}"	""	"BEST1 c.226A>G, p.(Ile76Val)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955180A>G"	""	"likely pathogenic"	""
"0000840799"	"0"	"70"	"11"	"61722652"	"61722652"	"subst"	"0"	"00000"	"BEST1_000303"	"g.61722652A>G"	""	"{PMID:Cohn 2010:21109774}"	""	"BEST1 c.226A>G, p.(Ile76Val)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955180A>G"	""	"likely pathogenic"	""
"0000840800"	"0"	"70"	"11"	"61726989"	"61726989"	"subst"	"0"	"00000"	"BEST1_000109"	"g.61726989A>G"	""	"{PMID:Cohn 2010:21109774}"	""	"BEST1 c.887A>G, p.(Asn296Ser)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959517A>G"	""	"likely pathogenic"	""
"0000840801"	"0"	"70"	"11"	"61726989"	"61726989"	"subst"	"0"	"00000"	"BEST1_000109"	"g.61726989A>G"	""	"{PMID:Cohn 2010:21109774}"	""	"BEST1 c.887A>G, p.(Asn296Ser)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959517A>G"	""	"likely pathogenic"	""
"0000840802"	"0"	"70"	"11"	"61722667"	"61722667"	"subst"	"0"	"00000"	"BEST1_000304"	"g.61722667G>A"	""	"{PMID:Cohn 2010:21109774}"	""	"BEST1 c.241G>A, p.(Val81Met)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955195G>A"	""	"likely pathogenic"	""
"0000840803"	"0"	"70"	"11"	"61722667"	"61722667"	"subst"	"0"	"00000"	"BEST1_000304"	"g.61722667G>A"	""	"{PMID:Cohn 2010:21109774}"	""	"BEST1 c.241G>A, p.(Val81Met)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955195G>A"	""	"likely pathogenic"	""
"0000840804"	"0"	"70"	"11"	"61723345"	"61723345"	"subst"	"0"	"00000"	"BEST1_000014"	"g.61723345G>A"	""	"{PMID:Cohn 2010:21109774}"	""	"BEST1 c.403G>A, p.(Gly135Ser)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955873G>A"	""	"likely pathogenic"	""
"0000840805"	"0"	"70"	"11"	"61723345"	"61723345"	"subst"	"0"	"00000"	"BEST1_000014"	"g.61723345G>A"	""	"{PMID:Cohn 2010:21109774}"	""	"BEST1 c.403G>A, p.(Gly135Ser)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955873G>A"	""	"likely pathogenic"	""
"0000840806"	"0"	"70"	"11"	"61723345"	"61723345"	"subst"	"0"	"00000"	"BEST1_000014"	"g.61723345G>A"	""	"{PMID:Cohn 2010:21109774}"	""	"BEST1 c.403G>A, p.(Gly135Ser)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955873G>A"	""	"likely pathogenic"	""
"0000840807"	"0"	"70"	"11"	"61726985"	"61726985"	"subst"	"4.06095E-6"	"00000"	"BEST1_000320"	"g.61726985A>G"	""	"{PMID:Cohn 2010:21109774}"	""	"BEST1 c.883A>G, p.(Ile295Val)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959513A>G"	""	"likely pathogenic"	""
"0000840808"	"0"	"70"	"11"	"61726985"	"61726985"	"subst"	"4.06095E-6"	"00000"	"BEST1_000320"	"g.61726985A>G"	""	"{PMID:Cohn 2010:21109774}"	""	"BEST1 c.883A>G, p.(Ile295Val)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959513A>G"	""	"likely pathogenic"	""
"0000840809"	"0"	"70"	"11"	"61719303"	"61719303"	"subst"	"0"	"00000"	"BEST1_000005"	"g.61719303G>A"	""	"{PMID:Cohn 2010:21109774}"	""	"BEST1 c.25G>A, p.(Val9Met)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951831G>A"	""	"likely pathogenic"	""
"0000840810"	"0"	"70"	"11"	"61724366"	"61724368"	"del"	"0"	"00000"	"BEST1_000309"	"g.61724366_61724368del"	""	"{PMID:Cohn 2010:21109774}"	""	"BEST1 c.532_534del, p.(His178del)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956894_61956896del"	""	"likely pathogenic"	""
"0000840811"	"0"	"70"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Cohn 2010:21109774}"	""	"BEST1 c.653G>A, p.(Arg218His)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957403G>A"	""	"likely pathogenic"	""
"0000840812"	"0"	"70"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Cohn 2010:21109774}"	""	"BEST1 c.653G>A, p.(Arg218His)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957403G>A"	""	"likely pathogenic"	""
"0000840813"	"0"	"70"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Cohn 2010:21109774}"	""	"BEST1 c.653G>A, p.(Arg218His)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957403G>A"	""	"likely pathogenic"	""
"0000840814"	"0"	"70"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Cohn 2010:21109774}"	""	"BEST1 c.653G>A, p.(Arg218His)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957403G>A"	""	"likely pathogenic"	""
"0000840815"	"0"	"70"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Cohn 2010:21109774}"	""	"BEST1 c.653G>A, p.(Arg218His)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957403G>A"	""	"likely pathogenic"	""
"0000840816"	"0"	"70"	"11"	"61724436"	"61724436"	"subst"	"6.50042E-5"	"00000"	"BEST1_000212"	"g.61724436T>C"	""	"{PMID:Cohn 2010:21109774}"	""	"BEST1 c.602T>C, p.(Ile201Thr)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956964T>C"	""	"likely pathogenic"	""
"0000840817"	"0"	"70"	"11"	"61725754"	"61725754"	"subst"	"0"	"00000"	"BEST1_000115"	"g.61725754A>G"	""	"{PMID:Cohn 2010:21109774}"	""	"BEST1 c.851A>G, p.(Tyr284Cys)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958282A>G"	""	"likely pathogenic"	""
"0000840889"	"0"	"70"	"11"	"61719380"	"61719380"	"subst"	"1.62715E-5"	"00000"	"BEST1_000131"	"g.61719380C>T"	""	"{PMID:Davidson 2010:21203346}"	""	"BEST1 c.102C>T (p.Gly34Gly)"	"variant creates a cryptic splice donor site 52 nucleotides upstream of the genuine splice donor site - experimantally confirmed truncated exon 2; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951908C>T"	""	"likely pathogenic"	""
"0000840890"	"0"	"70"	"11"	"61719380"	"61719380"	"subst"	"1.62715E-5"	"00000"	"BEST1_000131"	"g.61719380C>T"	""	"{PMID:Davidson 2010:21203346}"	""	"BEST1 c.102C>T (p.Gly34Gly)"	"variant creates a cryptic splice donor site 52 nucleotides upstream of the genuine splice donor site - experimantally confirmed truncated exon 2; assumed compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951908C>T"	""	"likely pathogenic"	""
"0000840891"	"0"	"70"	"11"	"61724406"	"61724406"	"subst"	"4.06095E-6"	"00000"	"BEST1_000157"	"g.61724406T>C"	""	"{PMID:Davidson 2010:21203346}"	""	"BEST1 c.572T>C (p.Leu191Pro)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956934T>C"	""	"likely pathogenic"	""
"0000840892"	"0"	"70"	"11"	"61730096"	"61730097"	"del"	"0"	"00000"	"BEST1_000297"	"g.61730096_61730097del"	""	"{PMID:Davidson 2010:21203346}"	""	"BEST1 c.1470_1471delCA (p.His490GlnfsX24)"	"assumed compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61962624_61962625del"	""	"likely pathogenic"	""
"0000840904"	"0"	"70"	"11"	"61723216"	"61723216"	"subst"	"0"	"00000"	"BEST1_000258"	"g.61723216C>T"	""	"{PMID:Querques 2011:21242858}"	""	""	"no nucleotide annotation, extrapolated from databases heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955744C>T"	""	"likely pathogenic"	""
"0000840905"	"0"	"70"	"11"	"61723216"	"61723216"	"subst"	"0"	"00000"	"BEST1_000258"	"g.61723216C>T"	""	"{PMID:Querques 2011:21242858}"	""	""	"no nucleotide annotation, extrapolated from databases heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955744C>T"	""	"likely pathogenic"	""
"0000840906"	"0"	"70"	"11"	"61719307"	"61719307"	"subst"	"0"	"00000"	"BEST1_000098"	"g.61719307C>T"	""	"{PMID:Querques 2011:21242858}"	""	""	"no nucleotide annotation, extrapolated from databases heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951835C>T"	""	"likely pathogenic"	""
"0000840907"	"0"	"70"	"11"	"61719307"	"61719307"	"subst"	"0"	"00000"	"BEST1_000098"	"g.61719307C>T"	""	"{PMID:Querques 2011:21242858}"	""	""	"no nucleotide annotation, extrapolated from databases heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951835C>T"	""	"likely pathogenic"	""
"0000840908"	"0"	"70"	"11"	"61723214"	"61723214"	"subst"	"0"	"00000"	"BEST1_000257"	"g.61723214C>T"	""	"{PMID:Querques 2011:21242858}"	""	""	"no nucleotide annotation, extrapolated from databases heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955742C>T"	""	"likely pathogenic"	""
"0000840909"	"0"	"70"	"11"	"61723214"	"61723214"	"subst"	"0"	"00000"	"BEST1_000257"	"g.61723214C>T"	""	"{PMID:Querques 2011:21242858}"	""	""	"no nucleotide annotation, extrapolated from databases heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955742C>T"	""	"likely pathogenic"	""
"0000840910"	"0"	"70"	"11"	"61723214"	"61723214"	"subst"	"0"	"00000"	"BEST1_000257"	"g.61723214C>T"	""	"{PMID:Querques 2011:21242858}"	""	""	"no nucleotide annotation, extrapolated from databases heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955742C>T"	""	"likely pathogenic"	""
"0000840911"	"0"	"70"	"11"	"61719304"	"61719304"	"subst"	"0"	"00000"	"BEST1_000244"	"g.61719304T>C"	""	"{PMID:Querques 2011:21242858}"	""	""	"no nucleotide annotation, extrapolated from databases heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951832T>C"	""	"likely pathogenic"	""
"0000840912"	"0"	"70"	"11"	"61719304"	"61719304"	"subst"	"0"	"00000"	"BEST1_000244"	"g.61719304T>C"	""	"{PMID:Querques 2011:21242858}"	""	""	"no nucleotide annotation, extrapolated from databases heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951832T>C"	""	"likely pathogenic"	""
"0000840913"	"0"	"70"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:Querques 2011:21242858}"	""	""	"no nucleotide annotation, extrapolated from databases heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951879C>T"	""	"likely pathogenic"	""
"0000840914"	"0"	"70"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:Querques 2011:21242858}"	""	""	"no nucleotide annotation, extrapolated from databases heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951879C>T"	""	"likely pathogenic"	""
"0000840915"	"0"	"70"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:Querques 2011:21242858}"	""	""	"no nucleotide annotation, extrapolated from databases heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951879C>T"	""	"likely pathogenic"	""
"0000840916"	"0"	"70"	"11"	"61725726"	"61725726"	"subst"	"5.68505E-5"	"00000"	"BEST1_000280"	"g.61725726G>A"	""	"{PMID:Querques 2011:21242858}"	""	""	"no nucleotide annotation, extrapolated from databases heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958254G>A"	""	"likely pathogenic"	""
"0000840917"	"0"	"70"	"11"	"61724911"	"61724911"	"subst"	"0"	"00000"	"BEST1_000315"	"g.61724911T>C"	""	"{PMID:Querques 2011:21242858}"	""	""	"no nucleotide annotation, extrapolated from databases heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957439T>C"	""	"likely pathogenic"	""
"0000840918"	"0"	"70"	"11"	"61724911"	"61724911"	"subst"	"0"	"00000"	"BEST1_000315"	"g.61724911T>C"	""	"{PMID:Querques 2011:21242858}"	""	""	"no nucleotide annotation, extrapolated from databases heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957439T>C"	""	"likely pathogenic"	""
"0000840934"	"0"	"70"	"11"	"61723396"	"61723396"	"subst"	"2.86217E-5"	"00000"	"BEST1_000308"	"g.61723396C>G"	""	"{PMID:Kinnick 2011:21273940}"	""	"BEST1 C454G, Pro152Ala"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955924C>G"	""	"likely pathogenic (recessive)"	""
"0000840935"	"0"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Kinnick 2011:21273940}"	""	"BEST1 G422A, Arg141His"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic (recessive)"	""
"0000840936"	"11"	"70"	"11"	"61723396"	"61723396"	"subst"	"2.86217E-5"	"00000"	"BEST1_000308"	"g.61723396C>G"	""	"{PMID:Kinnick 2011:21273940}"	""	"BEST1 C454G, Pro152Ala"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955924C>G"	""	"likely pathogenic (recessive)"	""
"0000840937"	"11"	"70"	"11"	"61723396"	"61723396"	"subst"	"2.86217E-5"	"00000"	"BEST1_000308"	"g.61723396C>G"	""	"{PMID:Kinnick 2011:21273940}"	""	"BEST1 C454G, Pro152Ala"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955924C>G"	""	"likely pathogenic (recessive)"	""
"0000840938"	"0"	"70"	"11"	"61724436"	"61724436"	"subst"	"6.50042E-5"	"00000"	"BEST1_000212"	"g.61724436T>C"	""	"{PMID:Kinnick 2011:21273940}"	""	"BEST1 T602C, Ile201Thr"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61956964T>C"	""	"likely pathogenic (recessive)"	""
"0000840939"	"11"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Kinnick 2011:21273940}"	""	"BEST1 G422A, Arg141His"	"compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic (recessive)"	""
"0000840940"	"11"	"70"	"11"	"61723396"	"61723396"	"subst"	"2.86217E-5"	"00000"	"BEST1_000308"	"g.61723396C>G"	""	"{PMID:Kinnick 2011:21273940}"	""	"BEST1 C454G, Pro152Ala"	"compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955924C>G"	""	"likely pathogenic (recessive)"	""
"0000840941"	"0"	"70"	"11"	"61726968"	"61726968"	"subst"	"4.06111E-6"	"00000"	"BEST1_000338"	"g.61726968A>G"	""	"{PMID:Kinnick 2011:21273940}"	""	"BEST1 c.867-2A>G, IVS7 - 2A>G"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959496A>G"	""	"likely pathogenic (recessive)"	""
"0000840942"	"0"	"70"	"11"	"61725724"	"61725724"	"subst"	"2.03031E-5"	"00000"	"BEST1_000152"	"g.61725724C>G"	""	"{PMID:Kinnick 2011:21273940}"	""	"BEST1 C821G, Pro274Arg"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958252C>G"	""	"likely pathogenic (recessive)"	""
"0000840943"	"11"	"70"	"11"	"61726968"	"61726968"	"subst"	"4.06111E-6"	"00000"	"BEST1_000338"	"g.61726968A>G"	""	"{PMID:Kinnick 2011:21273940}"	""	"BEST1 c.867-2A>G, IVS7 - 2A>G"	"compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959496A>G"	""	"likely pathogenic (recessive)"	""
"0000840944"	"0"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Kinnick 2011:21273940}"	""	"BEST1 C584T, Ala195Val"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic (recessive)"	""
"0000840945"	"0"	"70"	"11"	"61730096"	"61730097"	"del"	"0"	"00000"	"BEST1_000297"	"g.61730096_61730097del"	""	"{PMID:Kinnick 2011:21273940}"	""	"His490del2CTTCA"	""	"Unknown"	"?"	""	"0"	""	""	"g.61962624_61962625del"	""	"likely pathogenic (recessive)"	""
"0000840946"	"21"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Kinnick 2011:21273940}"	""	"BEST1 C584T, Ala195Val"	"compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic (recessive)"	""
"0000840947"	"21"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Kinnick 2011:21273940}"	""	"BEST1 C584T, Ala195Val"	"compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic (recessive)"	""
"0000840948"	"0"	"70"	"11"	"61730096"	"61730097"	"del"	"0"	"00000"	"BEST1_000297"	"g.61730096_61730097del"	""	"{PMID:Kinnick 2011:21273940}"	""	"His490del2CTTCA"	""	"Unknown"	"?"	""	"0"	""	""	"g.61962624_61962625del"	""	"likely pathogenic (recessive)"	""
"0000840949"	"1"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Kinnick 2011:21273940}"	""	"BEST1 G422A, Arg141His"	"compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic (recessive)"	""
"0000840950"	"3"	"70"	"11"	"61724455"	"61724466"	"del"	"0"	"00000"	"BEST1_000446"	"g.61724455_61724466del"	""	"{PMID:Kinnick 2011:21273940}"	""	"Ile205del12ATCCTGCTCCAGAG"	""	"Germline"	"?"	""	"0"	""	""	"g.61956983_61956994del"	""	"likely pathogenic (recessive)"	""
"0000840951"	"1"	"70"	"11"	"61724436"	"61724436"	"subst"	"6.50042E-5"	"00000"	"BEST1_000212"	"g.61724436T>C"	""	"{PMID:Kinnick 2011:21273940}"	""	"BEST1 T602C, Ile201Thr"	"compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61956964T>C"	""	"likely pathogenic (recessive)"	""
"0000840952"	"1"	"70"	"11"	"61724436"	"61724436"	"subst"	"6.50042E-5"	"00000"	"BEST1_000212"	"g.61724436T>C"	""	"{PMID:Kinnick 2011:21273940}"	""	"BEST1 T602C, Ile201Thr"	"compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61956964T>C"	""	"likely pathogenic (recessive)"	""
"0000840953"	"3"	"70"	"11"	"61727516"	"61727525"	"del"	"0"	"00000"	"BEST1_000376"	"g.61727516_61727525del"	""	"{PMID:Kinnick 2011:21273940}"	""	"Ile366delCAGGTGTGGC"	""	"Germline"	"?"	""	"0"	""	""	"g.61960044_61960053del"	""	"likely pathogenic (recessive)"	""
"0000840954"	"3"	"70"	"11"	"61719417"	"61719417"	"subst"	"1.62596E-5"	"00000"	"BEST1_000329"	"g.61719417C>T"	""	"{PMID:Kinnick 2011:21273940}"	""	"BEST1 Arg47Cys"	"no nucleotide annotation, extrapolated from databases; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951945C>T"	""	"likely pathogenic (recessive)"	""
"0000840955"	"21"	"70"	"11"	"61723396"	"61723396"	"subst"	"2.86217E-5"	"00000"	"BEST1_000308"	"g.61723396C>G"	""	"{PMID:Kinnick 2011:21273940}"	""	"BEST1 Pro152Ala, C454G"	"compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955924C>G"	""	"likely pathogenic (recessive)"	""
"0000840956"	"21"	"70"	"11"	"61724436"	"61724436"	"subst"	"6.50042E-5"	"00000"	"BEST1_000212"	"g.61724436T>C"	""	"{PMID:Kinnick 2011:21273940}"	""	"BEST1 T602C, Ile201Thr"	"compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61956964T>C"	""	"likely pathogenic (recessive)"	""
"0000840957"	"21"	"70"	"11"	"61725724"	"61725724"	"subst"	"2.03031E-5"	"00000"	"BEST1_000152"	"g.61725724C>G"	""	"{PMID:Kinnick 2011:21273940}"	""	"BEST1 Pro274Arg, C821G"	"compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958252C>G"	""	"likely pathogenic (recessive)"	""
"0000840958"	"11"	"70"	"11"	"61730096"	"61730097"	"del"	"0"	"00000"	"BEST1_000297"	"g.61730096_61730097del"	""	"{PMID:Kinnick 2011:21273940}"	""	"His490del2CTTCA"	""	"Germline"	"?"	""	"0"	""	""	"g.61962624_61962625del"	""	"likely pathogenic (recessive)"	""
"0000840959"	"11"	"70"	"11"	"61730096"	"61730097"	"del"	"0"	"00000"	"BEST1_000297"	"g.61730096_61730097del"	""	"{PMID:Kinnick 2011:21273940}"	""	"His490del2CTTCA"	""	"Unknown"	"?"	""	"0"	""	""	"g.61962624_61962625del"	""	"likely pathogenic (recessive)"	""
"0000840960"	"2"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Kinnick 2011:21273940}"	""	"BEST1 Ala195Val, C584T"	"compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic (recessive)"	""
"0000840961"	"2"	"70"	"11"	"61725774"	"61725774"	"subst"	"4.06171E-6"	"00000"	"BEST1_000337"	"g.61725774G>A"	""	"{PMID:Kinnick 2011:21273940}"	""	"BEST1 IVS7+4G.A, c.867+4"	"compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958302G>A"	""	"likely pathogenic (recessive)"	""
"0000840962"	"21"	"70"	"11"	"61725751"	"61725753"	"del"	"0"	"00000"	"BEST1_000053"	"g.61725751_61725753del"	""	"{PMID:Kinnick 2011:21273940}"	""	"Phe281del3CAGTTC"	""	"Germline"	"?"	""	"0"	""	""	"g.61958279_61958281del"	""	"likely pathogenic (recessive)"	""
"0000840967"	"0"	"70"	"11"	"61719293"	"61719293"	"subst"	"0"	"00000"	"BEST1_000328"	"g.61719293C>A"	""	"{PMID:Lacassagne 2011:21293734}"	""	"BEST1 c.15C>A, p.Y5X"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951821C>A"	""	"likely pathogenic (recessive)"	""
"0000840968"	"0"	"70"	"11"	"61723372"	"61723372"	"subst"	"0"	"00000"	"BEST1_000331"	"g.61723372A>G"	""	"{PMID:Lacassagne 2011:21293734}"	""	"BEST1 c.430A>G, p.S144G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955900A>G"	""	"likely pathogenic (recessive)"	""
"0000840969"	"0"	"70"	"11"	"61723372"	"61723372"	"subst"	"0"	"00000"	"BEST1_000331"	"g.61723372A>G"	""	"{PMID:Lacassagne 2011:21293734}"	""	"BEST1 c.430A>G, p.S144G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955900A>G"	""	"likely pathogenic (recessive)"	""
"0000840970"	"11"	"70"	"11"	"61719293"	"61719293"	"subst"	"0"	"00000"	"BEST1_000328"	"g.61719293C>A"	""	"{PMID:Lacassagne 2011:21293734}"	""	"BEST1 c.15C>A c., p.Y5X"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951821C>A"	""	"likely pathogenic (recessive)"	""
"0000840971"	"21"	"70"	"11"	"61723372"	"61723372"	"subst"	"0"	"00000"	"BEST1_000331"	"g.61723372A>G"	""	"{PMID:Lacassagne 2011:21293734}"	""	"BEST1 c.430A>G, p.S144G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955900A>G"	""	"likely pathogenic (recessive)"	""
"0000840972"	"21"	"70"	"11"	"61723372"	"61723372"	"subst"	"0"	"00000"	"BEST1_000331"	"g.61723372A>G"	""	"{PMID:Lacassagne 2011:21293734}"	""	"BEST1 c.430A>G, p.S144G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955900A>G"	""	"likely pathogenic (recessive)"	""
"0000840973"	"21"	"70"	"11"	"61723372"	"61723372"	"subst"	"0"	"00000"	"BEST1_000331"	"g.61723372A>G"	""	"{PMID:Lacassagne 2011:21293734}"	""	"BEST1 430A>G, p.S144G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955900A>G"	""	"likely pathogenic (recessive)"	""
"0000840999"	"1"	"70"	"11"	"61723363"	"61723363"	"subst"	"0"	"00000"	"BEST1_000151"	"g.61723363C>A"	""	"{PMID:Iannaccone 2011:21320969}"	""	"BEST1 R141S"	"no nucleotide annotation, extrapolated from databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955891C>A"	""	"likely pathogenic (recessive)"	""
"0000841000"	"2"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Iannaccone 2011:21320969}"	""	"BEST1 R141H"	"no nucleotide annotation, extrapolated from databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic (recessive)"	""
"0000841038"	"0"	"70"	"11"	"61724919"	"61724919"	"subst"	"0"	"00000"	"BEST1_000336"	"g.61724919C>G"	""	"{PMID:Wittstrom 2011:21192766}"	""	"BEST1 R141S"	"heterozygous"	"De novo"	"yes"	""	"0"	""	""	"g.61957447C>G"	""	"likely pathogenic (recessive)"	""
"0000841039"	"0"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Wittstrom 2011:21192766}"	""	"BEST1 R141H"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic (recessive)"	""
"0000841040"	"21"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Wittstrom 2011:21192766}"	""	"BEST1 R141H"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic (recessive)"	""
"0000841041"	"21"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Wittstrom 2011:21192766}"	""	"BEST1 R141H"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic (recessive)"	""
"0000841049"	"3"	"70"	"11"	"61724432"	"61724432"	"subst"	"1.21878E-5"	"00000"	"BEST1_000311"	"g.61724432C>T"	""	"{PMID:Guerriero 2011:21412020}"	""	"BEST1 p.R200X; c.598C-->T"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956960C>T"	""	"likely pathogenic (recessive)"	""
"0000841056"	"3"	"70"	"11"	"61730041"	"61730041"	"del"	"5.68593E-5"	"00000"	"BEST1_000056"	"g.61730041del"	""	"{PMID:Bitner 2011:21467170}"	""	"BEST1 c.1415delT, p.Leu472ProfsX10"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61962569del"	""	"likely pathogenic (recessive)"	""
"0000841057"	"3"	"70"	"11"	"61730041"	"61730041"	"del"	"5.68593E-5"	"00000"	"BEST1_000056"	"g.61730041del"	""	"{PMID:Bitner 2011:21467170}"	""	"BEST1 c.1415delT, p.Leu472ProfsX10"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61962569del"	""	"likely pathogenic (recessive)"	""
"0000841107"	"20"	"70"	"11"	"61723195"	"61723195"	"subst"	"0"	"00000"	"BEST1_000186"	"g.61723195T>C"	""	"{PMID:Wittstrom 2011:21473666}"	""	"BEST1 p.Y85H"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955723T>C"	""	"likely pathogenic"	""
"0000841108"	"11"	"70"	"11"	"61723195"	"61723195"	"subst"	"0"	"00000"	"BEST1_000186"	"g.61723195T>C"	""	"{PMID:Wittstrom 2011:21473666}"	""	"BEST1 p.Y85H"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955723T>C"	""	"likely pathogenic"	""
"0000841109"	"11"	"70"	"11"	"61723195"	"61723195"	"subst"	"0"	"00000"	"BEST1_000186"	"g.61723195T>C"	""	"{PMID:Wittstrom 2011:21473666}"	""	"BEST1 p.Y85H"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955723T>C"	""	"likely pathogenic"	""
"0000841110"	"21"	"70"	"11"	"61723195"	"61723195"	"subst"	"0"	"00000"	"BEST1_000186"	"g.61723195T>C"	""	"{PMID:Wittstrom 2011:21473666}"	""	"BEST1 p.Y85H"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955723T>C"	""	"likely pathogenic"	""
"0000841112"	"0"	"70"	"11"	"61723330"	"61723330"	"subst"	"2.09702E-5"	"00000"	"BEST1_000189"	"g.61723330C>A"	""	"{PMID:Pineiro-Gallego 2011:21738390}"	""	"BEST1 c.388C>A, p.(Arg130Ser)"	"homozygous; dominant with reduced penetrance in heterozygotes"	"Germline"	"yes"	""	"0"	""	""	"g.61955858C>A"	""	"likely pathogenic"	""
"0000841113"	"0"	"70"	"11"	"61723330"	"61723330"	"subst"	"2.09702E-5"	"00000"	"BEST1_000189"	"g.61723330C>A"	""	"{PMID:Pineiro-Gallego 2011:21738390}"	""	"BEST1 c.388C>A, p.(Arg130Ser)"	"homozygous; dominant with reduced penetrance in heterozygotes"	"Germline"	"yes"	""	"0"	""	""	"g.61955858C>A"	""	"likely pathogenic"	""
"0000841114"	"0"	"70"	"11"	"61727038"	"61727038"	"subst"	"3.65533E-5"	"00000"	"BEST1_000203"	"g.61727038C>A"	""	"{PMID:Pineiro-Gallego 2011:21738390}"	""	"BEST1 c.936C>A, p.(Asp312Glu)"	"homozygous; dominant with reduced penetrance in heterozygotes"	"Germline"	"yes"	""	"0"	""	""	"g.61959566C>A"	""	"likely pathogenic"	""
"0000841366"	"0"	"70"	"11"	"61724406"	"61724406"	"subst"	"4.06095E-6"	"00000"	"BEST1_000157"	"g.61724406T>C"	""	"{PMID:MacDonald 2011:21809908}"	""	"BEST1 p.(Leu191Pro)"	"no nucleotide annotation provided, extrapolated from databases; compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61956934T>C"	""	"likely pathogenic"	""
"0000841367"	"0"	"70"	"11"	"61723219"	"61723220"	"delins"	"0"	"00000"	"BEST1_000000"	"g.(61723219_61723220delinsCC)"	""	"{PMID:MacDonald 2011:21809908}"	""	"Trp93Pro"	"no nucleotide annotation provided"	"Unknown"	"?"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000841368"	"0"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:MacDonald 2011:21809908}"	""	"BEST1 p.(Arg141His)"	"no nucleotide annotation provided, extrapolated from databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic"	""
"0000841369"	"0"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:MacDonald 2011:21809908}"	""	"BEST1 p.(Arg141His)"	"no nucleotide annotation provided, extrapolated from databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic"	""
"0000841370"	"0"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:MacDonald 2011:21809908}"	""	"BEST1 p.(Arg141His)"	"no nucleotide annotation provided, extrapolated from databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic"	""
"0000841371"	"0"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:MacDonald 2011:21809908}"	""	"BEST1 p.(Arg141His)"	"no nucleotide annotation provided, extrapolated from databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic"	""
"0000841372"	"0"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:MacDonald 2011:21809908}"	""	"BEST1 p.(Arg141His)"	"no nucleotide annotation provided, extrapolated from databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic"	""
"0000841373"	"0"	"70"	"11"	"61725763"	"61725763"	"subst"	"1.21838E-5"	"00000"	"BEST1_000054"	"g.61725763G>A"	""	"{PMID:MacDonald 2011:21809908}"	""	"BEST1 p.(Trp287*)"	"no nucleotide annotation provided, extrapolated from databases; compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958291G>A"	""	"likely pathogenic"	""
"0000841374"	"0"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:MacDonald 2011:21809908}"	""	"Ala195Val"	"no nucleotide annotation provided"	"Unknown"	"?"	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic"	""
"0000841382"	"21"	"70"	"11"	"61723417"	"61723417"	"subst"	"0"	"00000"	"BEST1_000332"	"g.61723417C>T"	""	"{PMID:Borman 2011:21825197}"	""	"BEST1 c.475C>T, p.Gln159X"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955945C>T"	""	"likely pathogenic (recessive)"	""
"0000841383"	"21"	"70"	"11"	"61727453"	"61727453"	"dup"	"0"	"00000"	"BEST1_000339"	"g.61727453dup"	""	"{PMID:Borman 2011:21825197}"	""	"BEST1 c.1038dupC, p.Tyr347LeufsX54"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959981dup"	""	"likely pathogenic (recessive)"	""
"0000841384"	"21"	"70"	"11"	"61724384"	"61724384"	"subst"	"0"	"00000"	"BEST1_000335"	"g.61724384C>T"	""	"{PMID:Borman 2011:21825197}"	""	"BEST1 c.550C>T, p.Pro184Ser"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956912C>T"	""	"likely pathogenic (recessive)"	""
"0000841385"	"21"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Borman 2011:21825197}"	""	"BEST1 c.584C>T, p.Ala195Val5"	"probably compound heterozygous; DNA was unavailable, however, each of his unaffected parents carried heterozygous BEST1 missense mutation"	"Germline"	"yes"	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic (recessive)"	""
"0000841386"	"21"	"70"	"11"	"61722598"	"61722599"	"dup"	"0"	"00000"	"BEST1_000330"	"g.61722598_61722599dup"	""	"{PMID:Borman 2011:21825197}"	""	"BEST1 c.172_173dupCA, p.Gln58HisfsX4"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955126_61955127dup"	""	"likely pathogenic (recessive)"	""
"0000841387"	"21"	"70"	"11"	"61722598"	"61722599"	"dup"	"0"	"00000"	"BEST1_000330"	"g.61722598_61722599dup"	""	"{PMID:Borman 2011:21825197}"	""	"BEST1 c.172_173dupCA, p.Gln58HisfsX4"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955126_61955127dup"	""	"likely pathogenic (recessive)"	""
"0000841388"	"11"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Borman 2011:21825197}"	""	"BEST1 c.422G>A, p.Arg141His"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic (recessive)"	""
"0000841389"	"11"	"70"	"11"	"61724367"	"61724367"	"subst"	"0"	"00000"	"BEST1_000333"	"g.61724367A>C"	""	"{PMID:Borman 2011:21825197}"	""	"BEST1 c.553A>C, p.His178Pro"	"p.His178Pro is actually caused by c.533A>C and not c.553A>C; compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956895A>C"	""	"likely pathogenic (recessive)"	""
"0000841390"	"10"	"70"	"11"	"61727481"	"61727481"	"subst"	"4.16691E-6"	"00000"	"BEST1_000144"	"g.61727481C>T"	""	"{PMID:Borman 2011:21825197}"	""	"BEST1 c.1066C>T, p.Arg356X"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61960009C>T"	""	"likely pathogenic (recessive)"	""
"0000841391"	"11"	"70"	"11"	"61727389"	"61727389"	"subst"	"4.90132E-5"	"00000"	"BEST1_000037"	"g.61727389T>C"	""	"{PMID:Borman 2011:21825197}"	""	"BEST1 c.974T>C, p.Met325Thr1"	"probably compound heterozygous; DNA was unavailable, however, each of his unaffected parents carried heterozygous BEST1 missense mutation"	"Germline"	"yes"	""	"0"	""	""	"g.61959917T>C"	""	"likely pathogenic (recessive)"	""
"0000841392"	"11"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Borman 2011:21825197}"	""	"BEST1 c.584C>T, p.Ala195Val5"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic (recessive)"	""
"0000841393"	"11"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Borman 2011:21825197}"	""	"BEST1 c.584C>T, p.Ala195Val5"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic (recessive)"	""
"0000841413"	"1"	"70"	"11"	"61727016"	"61727016"	"subst"	"0"	"00000"	"BEST1_000291"	"g.61727016T>C"	""	"{PMID:Low 2011:21921978}"	""	"BEST1 c.914T>C, p.Phe305Ser"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959544T>C"	""	"likely pathogenic"	""
"0000841414"	"1"	"70"	"11"	"61727016"	"61727016"	"subst"	"0"	"00000"	"BEST1_000291"	"g.61727016T>C"	""	"{PMID:Low 2011:21921978}"	""	"BEST1 c.914T>C, p.Phe305Ser"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959544T>C"	""	"likely pathogenic"	""
"0000841415"	"1"	"70"	"11"	"61727016"	"61727016"	"subst"	"0"	"00000"	"BEST1_000291"	"g.61727016T>C"	""	"{PMID:Low 2011:21921978}"	""	"BEST1 c.914T>C, p.Phe305Ser"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959544T>C"	""	"likely pathogenic"	""
"0000841416"	"0"	"70"	"11"	"61727016"	"61727016"	"subst"	"0"	"00000"	"BEST1_000291"	"g.61727016T>C"	""	"{PMID:Low 2011:21921978}"	""	"BEST1 c.914T>C, p.Phe305Ser"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959544T>C"	""	"likely pathogenic"	""
"0000841451"	"21"	"70"	"11"	"61727036"	"61727036"	"subst"	"4.87369E-5"	"00000"	"BEST1_000036"	"g.61727036G>A"	""	"{PMID:Sodi 2011:22162627}"	""	"BEST1 c.934G>A, (p.Asp312Asn)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959564G>A"	""	"likely pathogenic"	""
"0000841452"	"3"	"70"	"11"	"61724370"	"61724372"	"del"	"0"	"00000"	"BEST1_000334"	"g.61724370_61724372del"	""	"{PMID:Sodi 2011:22162627}"	""	"BEST1 c.625delAAC, (p.Asn179del)"	"error in annotation, p.(Asn179del) is caused by c.536_538del and not c.625delAAC; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956898_61956900del"	""	"likely pathogenic"	""
"0000841453"	"3"	"70"	"11"	"61719417"	"61719417"	"subst"	"1.62596E-5"	"00000"	"BEST1_000329"	"g.61719417C>T"	""	"{PMID:Sodi 2011:22162627}"	""	"BEST1 c.139C>T,  (p.Arg47Cys)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951945C>T"	""	"likely pathogenic"	""
"0000841454"	"3"	"70"	"11"	"61719417"	"61719417"	"subst"	"1.62596E-5"	"00000"	"BEST1_000329"	"g.61719417C>T"	""	"{PMID:Sodi 2011:22162627}"	""	"BEST1 c.139C>T,  (p.Arg47Cys)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951945C>T"	""	"likely pathogenic"	""
"0000841455"	"11"	"70"	"11"	"61723243"	"61723243"	"subst"	"0"	"00000"	"BEST1_000187"	"g.61723243C>A"	""	"{PMID:Sodi 2011:22162627}"	""	"BEST1 c.301C>A, (p.Pro101Thr)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955771C>A"	""	"likely pathogenic"	""
"0000841456"	"11"	"70"	"11"	"61730295"	"61730295"	"del"	"0"	"00000"	"BEST1_000340"	"g.61730295del"	""	"{PMID:Sodi 2011:22162627}"	""	"BEST1 c.1699del, p.(Glu557AsnfsX52)"	"error in annotation, p.(Glu557AsnfsX52) is caused by c.1669del and not c.1699del; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61962823del"	""	"likely pathogenic"	""
"0000841457"	"21"	"70"	"11"	"61724860"	"61724860"	"subst"	"4.06081E-6"	"00000"	"BEST1_000226"	"g.61724860A>G"	""	"{PMID:Sodi 2011:22162627}"	""	"BEST1 c.638A>G, (p.Glu213Gly)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957388A>G"	""	"likely pathogenic"	""
"0000841602"	"11"	"70"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Kousal 2011:22448417}"	""	"BEST1 c.653G>A, p.(Arg218His)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957403G>A"	""	"likely pathogenic"	""
"0000841604"	"0"	"70"	"11"	"61727007"	"61727007"	"subst"	"0"	"00000"	"BEST1_000033"	"g.61727007A>C"	""	"{PMID:Kay 2012:22084158}"	""	"BEST1 Asp302Ala, GAT>GCT"	"no nucleotide annotation provided, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959535A>C"	""	"likely pathogenic"	""
"0000841605"	"0"	"70"	"11"	"61727007"	"61727007"	"subst"	"0"	"00000"	"BEST1_000033"	"g.61727007A>C"	""	"{PMID:Kay 2012:22084158}"	""	"BEST1 Asp302Ala, GAT>GCT"	"no nucleotide annotation provided, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959535A>C"	""	"likely pathogenic"	""
"0000841606"	"0"	"70"	"11"	"61727007"	"61727007"	"subst"	"0"	"00000"	"BEST1_000033"	"g.61727007A>C"	""	"{PMID:Kay 2012:22084158}"	""	"BEST1 Asp302Ala, GAT>GCT"	"no nucleotide annotation provided, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959535A>C"	""	"likely pathogenic"	""
"0000841607"	"0"	"70"	"11"	"61724901"	"61724901"	"subst"	"0"	"00000"	"BEST1_000022"	"g.61724901T>A"	""	"{PMID:Kay 2012:22084158}"	""	"BEST1 Tyr227Asn, TAC>AAC"	"no nucleotide annotation provided, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957429T>A"	""	"likely pathogenic"	""
"0000841608"	"0"	"70"	"11"	"61724901"	"61724901"	"subst"	"0"	"00000"	"BEST1_000022"	"g.61724901T>A"	""	"{PMID:Kay 2012:22084158}"	""	"BEST1 Tyr227Asn, TAC>AAC"	"no nucleotide annotation provided, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957429T>A"	""	"likely pathogenic"	""
"0000841609"	"0"	"70"	"11"	"61724901"	"61724901"	"subst"	"0"	"00000"	"BEST1_000022"	"g.61724901T>A"	""	"{PMID:Kay 2012:22084158}"	""	"BEST1 Tyr227Asn, TAC>AAC"	"no nucleotide annotation provided, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957429T>A"	""	"likely pathogenic"	""
"0000841610"	"0"	"70"	"11"	"61727012"	"61727014"	"del"	"0"	"00000"	"BEST1_000034"	"g.61727012_61727014del"	""	"{PMID:Kay 2012:22084158}"	""	"BEST1 Asp301, del3gGAT"	"no nucleotide annotation provided, extrapolated from protein and databases; error in annotation, 3\' rule dictates that Asp304 is deleted and not 301; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959540_61959542del"	""	"likely pathogenic"	""
"0000841611"	"0"	"70"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Kay 2012:22084158}"	""	"BEST1 Arg218His, CGT>CAT"	"no nucleotide annotation provided, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957403G>A"	""	"likely pathogenic"	""
"0000841612"	"0"	"70"	"11"	"61727049"	"61727049"	"subst"	"0"	"00000"	"BEST1_000352"	"g.61727049A>C"	""	"{PMID:Kay 2012:22084158}"	""	"BEST1 Gln316Pro, CAG>CCG"	"no nucleotide annotation provided, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959577A>C"	""	"likely pathogenic"	""
"0000841613"	"0"	"70"	"11"	"61727000"	"61727000"	"subst"	"0"	"00000"	"BEST1_000142"	"g.61727000G>A"	""	"{PMID:Kay 2012:22084158}"	""	"BEST1 Glu300Lys, GAG-AAG"	"no nucleotide annotation provided, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959528G>A"	""	"likely pathogenic"	""
"0000841614"	"0"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	""	"{PMID:Kay 2012:22084158}"	""	"BEST1 Leu294, del3cTCA"	"no nucleotide annotation provided, extrapolated from protein and databases; error in annotation, 3\' rule dictates that Ile295 is deleted and not Leu294; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959514_61959516del"	""	"likely pathogenic"	""
"0000841615"	"0"	"70"	"11"	"61719367"	"61719367"	"subst"	"4.06918E-6"	"00000"	"BEST1_000099"	"g.61719367A>G"	""	"{PMID:Kay 2012:22084158}"	""	"BEST1 Lys30Arg, ex, 2"	"no nucleotide annotation provided, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951895A>G"	""	"likely pathogenic"	""
"0000841616"	"0"	"70"	"11"	"61725625"	"61725625"	"subst"	"0"	"00000"	"BEST1_000137"	"g.61725625C>A"	""	"{PMID:Kay 2012:22084158}"	""	"BEST1 Thr241Asn, ACT>AAT"	"no nucleotide annotation provided, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958153C>A"	""	"likely pathogenic"	""
"0000841617"	"0"	"70"	"11"	"61727022"	"61727022"	"subst"	"0"	"00000"	"BEST1_000295"	"g.61727022C>T"	""	"{PMID:Kay 2012:22084158}"	""	"BEST1 Thr307Ile, ACC>ATC"	"no nucleotide annotation provided, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959550C>T"	""	"likely pathogenic"	""
"0000841618"	"0"	"70"	"11"	"61723341"	"61723341"	"subst"	"0"	"00000"	"BEST1_000135"	"g.61723341C>G"	""	"{PMID:Kay 2012:22084158}"	""	"BEST1 Asn133Lys"	"no nucleotide annotation provided, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955869C>G"	""	"likely pathogenic"	""
"0000841620"	"0"	"70"	"11"	"61724355"	"61724356"	"del"	"0"	"00000"	"BEST1_000346"	"g.61724355_61724356del"	""	"{PMID:Pomares 2012:22199244}"	""	"BEST1 c.521_522del, p.(Leu174Glnfs*57)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956883_61956884del"	""	"likely pathogenic"	""
"0000841621"	"0"	"70"	"11"	"61727516"	"61727516"	"subst"	"0"	"00000"	"BEST1_000219"	"g.61727516G>A"	""	"{PMID:Pomares 2012:22199244}"	""	"BEST1 c.1100+1G>A, p.?"	"homozygous; aberrantly spliced product missing exon 9 most probably partially eliminated by nonsense-mediated decay"	"Germline"	"yes"	""	"0"	""	""	"g.61960044G>A"	""	"likely pathogenic"	""
"0000841623"	"0"	"70"	"11"	"61719400"	"61719400"	"subst"	"1.62571E-5"	"00000"	"BEST1_000253"	"g.61719400T>C"	""	"{PMID:Zhao 2012:22422030}"	""	"BEST1 c.122T>C, L41P"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951928T>C"	""	"likely pathogenic"	""
"0000841624"	"0"	"70"	"11"	"61719400"	"61719400"	"subst"	"1.62571E-5"	"00000"	"BEST1_000253"	"g.61719400T>C"	""	"{PMID:Zhao 2012:22422030}"	""	"BEST1 c.122T>C, L41P"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951928T>C"	""	"likely pathogenic"	""
"0000841625"	"0"	"70"	"11"	"61719400"	"61719400"	"subst"	"1.62571E-5"	"00000"	"BEST1_000253"	"g.61719400T>C"	""	"{PMID:Zhao 2012:22422030}"	""	"BEST1 c.122T>C, L41P"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951928T>C"	""	"likely pathogenic"	""
"0000841626"	"0"	"70"	"11"	"61724436"	"61724436"	"subst"	"6.50042E-5"	"00000"	"BEST1_000212"	"g.61724436T>C"	""	"{PMID:Zhao 2012:22422030}"	""	"BEST1 c.602T>C, I201T"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956964T>C"	""	"likely pathogenic"	""
"0000841627"	"0"	"70"	"11"	"61724436"	"61724436"	"subst"	"6.50042E-5"	"00000"	"BEST1_000212"	"g.61724436T>C"	""	"{PMID:Zhao 2012:22422030}"	""	"BEST1 c.602T>C, I201T"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956964T>C"	""	"likely pathogenic"	""
"0000841628"	"0"	"70"	"11"	"61724436"	"61724436"	"subst"	"6.50042E-5"	"00000"	"BEST1_000212"	"g.61724436T>C"	""	"{PMID:Zhao 2012:22422030}"	""	"BEST1 c.602T>C, I201T"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956964T>C"	""	"likely pathogenic"	""
"0000841629"	"3"	"70"	"11"	"61724370"	"61724372"	"del"	"0"	"00000"	"BEST1_000334"	"g.61724370_61724372del"	""	"{PMID:Cascavilla 2012:22584882}"	""	"535_537delAAC (Asn179del)"	""	"Germline"	"yes"	""	"0"	""	""	"g.61956898_61956900del"	""	"likely pathogenic"	""
"0000841630"	"0"	"70"	"11"	"61723195"	"61723195"	"subst"	"0"	"00000"	"BEST1_000186"	"g.61723195T>C"	""	"{PMID:Bitner 2012:22633354}"	""	"BEST1 c.253T>C, p.(Tyr85His)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955723T>C"	""	"likely pathogenic"	""
"0000841631"	"0"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Bitner 2012:22633354}"	""	"BEST1 c.728C>T, p.(Ala243Val)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958159C>T"	""	"likely pathogenic"	""
"0000841632"	"0"	"70"	"11"	"61723217"	"61723217"	"subst"	"0"	"00000"	"BEST1_000260"	"g.61723217G>A"	""	"{PMID:Bitner 2012:22633354}"	""	"BEST1 c.275G>A, p.(Arg92His)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955745G>A"	""	"likely pathogenic"	""
"0000841633"	"0"	"70"	"11"	"61727006"	"61727006"	"subst"	"0"	"00000"	"BEST1_000032"	"g.61727006G>A"	""	"{PMID:Bitner 2012:22633354}"	""	"BEST1 c.904G>T, p.(Asp302Asn)"	"error in annotation, p.(Asp302Asn) is caused by c.904G>A and not c.904G>T; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959534G>A"	""	"likely pathogenic"	""
"0000841634"	"21"	"70"	"11"	"61727006"	"61727006"	"subst"	"0"	"00000"	"BEST1_000032"	"g.61727006G>A"	""	"{PMID:Bitner 2012:22633354}"	""	"BEST1 c.904G>T, p.(Asp302Asn)"	"error in annotation, p.(Asp302Asn) is caused by c.904G>A and not c.904G>T; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959534G>A"	""	"likely pathogenic"	""
"0000841635"	"0"	"70"	"11"	"61727038"	"61727038"	"subst"	"3.65533E-5"	"00000"	"BEST1_000203"	"g.61727038C>A"	""	"{PMID:Bitner 2012:22633354}"	""	"BEST1 c.936C>A, p.(Asp312Glu)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959566C>A"	""	"likely pathogenic"	""
"0000841636"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Bitner 2012:22633354}"	""	"BEST1 c.652C>T, p.(Arg218Cys)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000841637"	"20"	"70"	"11"	"61727006"	"61727006"	"subst"	"0"	"00000"	"BEST1_000032"	"g.61727006G>A"	""	"{PMID:Bitner 2012:22633354}"	""	"BEST1 c.904G>T, p.(Asp302Asn)"	"error in annotation, p.(Asp302Asn) is caused by c.904G>A and not c.904G>T; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959534G>A"	""	"likely pathogenic"	""
"0000841638"	"10"	"70"	"11"	"61727006"	"61727006"	"subst"	"0"	"00000"	"BEST1_000032"	"g.61727006G>A"	""	"{PMID:Bitner 2012:22633354}"	""	"BEST1 c.904G>T, p.(Asp302Asn)"	"error in annotation, p.(Asp302Asn) is caused by c.904G>A and not c.904G>T; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959534G>A"	""	"likely pathogenic"	""
"0000841639"	"10"	"70"	"11"	"61727006"	"61727006"	"subst"	"0"	"00000"	"BEST1_000032"	"g.61727006G>A"	""	"{PMID:Bitner 2012:22633354}"	""	"BEST1 c.904G>T, p.(Asp302Asn)"	"error in annotation, p.(Asp302Asn) is caused by c.904G>A and not c.904G>T; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959534G>A"	""	"likely pathogenic"	""
"0000841640"	"20"	"70"	"11"	"61726989"	"61726989"	"subst"	"0"	"00000"	"BEST1_000109"	"g.61726989A>G"	""	"{PMID:Bitner 2012:22633354}"	""	"BEST1 c.887A>G, p.(Asn296Ser)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959517A>G"	""	"likely pathogenic"	""
"0000841641"	"21"	"70"	"11"	"61726989"	"61726989"	"subst"	"0"	"00000"	"BEST1_000109"	"g.61726989A>G"	""	"{PMID:Bitner 2012:22633354}"	""	"BEST1 c.887A>G, p.(Asn296Ser)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959517A>G"	""	"likely pathogenic"	""
"0000841642"	"0"	"70"	"11"	"61722670"	"61722670"	"subst"	"0"	"00000"	"BEST1_000011"	"g.61722670C>G"	""	"{PMID:Bitner 2012:22633354}"	""	"BEST1 c.244C>G, p.(Leu82Val)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955198C>G"	""	"likely pathogenic"	""
"0000841643"	"0"	"70"	"11"	"61727007"	"61727007"	"subst"	"0"	"00000"	"BEST1_000033"	"g.61727007A>C"	""	"{PMID:Bitner 2012:22633354}"	""	"BEST1 c.905A>C, p.(Asp302Ala)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959535A>C"	""	"likely pathogenic"	""
"0000841644"	"0"	"70"	"11"	"61719336"	"61719336"	"subst"	"0"	"00000"	"BEST1_000199"	"g.61719336C>G"	""	"{PMID:Bitner 2012:22633354}"	""	"BEST1 c.58C>G, p.(Leu20Val)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951864C>G"	""	"likely pathogenic"	""
"0000841645"	"10"	"70"	"11"	"61723229"	"61723229"	"subst"	"0"	"00000"	"BEST1_000070"	"g.61723229A>G"	""	"{PMID:Bitner 2012:22633354}"	""	"BEST1 c.287A>G, p.(Gln96Arg)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955757A>G"	""	"likely pathogenic"	""
"0000841646"	"0"	"70"	"11"	"61723229"	"61723229"	"subst"	"0"	"00000"	"BEST1_000070"	"g.61723229A>G"	""	"{PMID:Bitner 2012:22633354}"	""	"BEST1 c.287A>G, p.(Gln96Arg)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955757A>G"	""	"likely pathogenic"	""
"0000841647"	"0"	"70"	"11"	"61723237"	"61723237"	"subst"	"0"	"00000"	"BEST1_000201"	"g.61723237A>C"	""	"{PMID:Bitner 2012:22633354}"	""	"BEST1 c.295A>C, p.(Asn99His)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955765A>C"	""	"likely pathogenic"	""
"0000841672"	"0"	"70"	"11"	"61719298"	"61719298"	"subst"	"2.44129E-5"	"00000"	"BEST1_000342"	"g.61719298G>A"	""	"{PMID:Katagiri 2015:26201355}"	""	"BEST1 c.20G>A, p.(Ser7Asn)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951826G>A"	""	"likely pathogenic"	""
"0000841673"	"0"	"70"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Katagiri 2015:26201355}"	""	"BEST1 c.653G>A, p.(Arg218His)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957403G>A"	""	"likely pathogenic"	""
"0000841674"	"11"	"70"	"11"	"61719298"	"61719298"	"subst"	"2.44129E-5"	"00000"	"BEST1_000342"	"g.61719298G>A"	""	"{PMID:Katagiri 2015:26201355}"	""	"BEST1 c.20G>A, p.(Ser7Asn)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951826G>A"	""	"likely pathogenic"	""
"0000841675"	"0"	"70"	"11"	"61719282"	"61719282"	"subst"	"0"	"00000"	"BEST1_000341"	"g.61719282A>G"	""	"{PMID:Katagiri 2015:26201355}"	""	"BEST1 c.4A>G, p.(Thr2Ala)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951810A>G"	""	"likely pathogenic"	""
"0000841676"	"10"	"70"	"11"	"61719282"	"61719282"	"subst"	"0"	"00000"	"BEST1_000341"	"g.61719282A>G"	""	"{PMID:Katagiri 2015:26201355}"	""	"BEST1 c.4A>G, p.(Thr2Ala)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951810A>G"	""	"likely pathogenic"	""
"0000841677"	"0"	"70"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Katagiri 2015:26201355}"	""	"BEST1 c.653G>A, p.(Arg218His)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957403G>A"	""	"likely pathogenic"	""
"0000841678"	"11"	"70"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Katagiri 2015:26201355}"	""	"BEST1 c.653G>A, p.(Arg218His)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957403G>A"	""	"likely pathogenic"	""
"0000841679"	"0"	"70"	"11"	"61722667"	"61722667"	"subst"	"0"	"00000"	"BEST1_000304"	"g.61722667G>A"	""	"{PMID:Katagiri 2015:26201355}"	""	"BEST1 c.241G>A, p.(Val81Met)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955195G>A"	""	"likely pathogenic"	""
"0000841680"	"11"	"70"	"11"	"61722667"	"61722667"	"subst"	"0"	"00000"	"BEST1_000304"	"g.61722667G>A"	""	"{PMID:Katagiri 2015:26201355}"	""	"BEST1 c.241G>A, p.(Val81Met)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955195G>A"	""	"likely pathogenic"	""
"0000841681"	"0"	"70"	"11"	"61725627"	"61725627"	"subst"	"0"	"00000"	"BEST1_000318"	"g.61725627G>A"	""	"{PMID:Katagiri 2015:26201355}"	""	"BEST1 c.724G>A, p.(Val242Met)"	"heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61958155G>A"	""	"likely pathogenic"	""
"0000841682"	"20"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Katagiri 2015:26201355}"	""	"BEST1 c.584C>T, p.(Ala195Val)"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic"	""
"0000841683"	"0"	"70"	"11"	"61727452"	"61727452"	"subst"	"5.35257E-5"	"00000"	"BEST1_000064"	"g.61727452C>A"	""	"{PMID:Katagiri 2015:26201355}"	""	"BEST1 c.1037C>A, p.(Pro346His)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959980C>A"	""	"likely pathogenic"	""
"0000841684"	"0"	"70"	"11"	"61724887"	"61724887"	"subst"	"0"	"00000"	"BEST1_000062"	"g.61724887G>A"	""	"{PMID:Katagiri 2015:26201355}"	""	"BEST1 c.665G>A, p.(Gly222Glu)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957415G>A"	""	"likely pathogenic"	""
"0000841685"	"0"	"70"	"11"	"61727020"	"61727020"	"subst"	"0"	"00000"	"BEST1_000293"	"g.61727020G>C"	""	"{PMID:Katagiri 2015:26201355}"	""	"BEST1 c.918G>C, p.(Glu306Asp)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959548G>C"	""	"likely pathogenic"	""
"0000841686"	"0"	"70"	"11"	"61727012"	"61727014"	"del"	"0"	"00000"	"BEST1_000034"	"g.61727012_61727014del"	""	"{PMID:Katagiri 2015:26201355}"	""	"BEST1 c.910_912delGAT, p.(Asp304del)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959540_61959542del"	""	"likely pathogenic"	""
"0000841687"	"0"	"70"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:Katagiri 2015:26201355}"	""	"BEST1 c.73C>T, p.(Arg25Trp)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951879C>T"	""	"likely pathogenic"	""
"0000841688"	"11"	"70"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:Katagiri 2015:26201355}"	""	"BEST1 c.73C>T, p.(Arg25Trp)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951879C>T"	""	"likely pathogenic"	""
"0000841689"	"0"	"70"	"11"	"61722666"	"61722666"	"subst"	"0"	"00000"	"BEST1_000171"	"g.61722666C>A"	""	"{PMID:Katagiri 2015:26201355}"	""	"BEST1 c.240C>A, p.(Phe80Leu)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955194C>A"	""	"likely pathogenic"	""
"0000841690"	"21"	"70"	"11"	"61722666"	"61722666"	"subst"	"0"	"00000"	"BEST1_000171"	"g.61722666C>A"	""	"{PMID:Katagiri 2015:26201355}"	""	"BEST1 c.240C>A, p.(Phe80Leu)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955194C>A"	""	"likely pathogenic"	""
"0000841691"	"21"	"70"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Katagiri 2015:26201355}"	""	"BEST1 c.653G>A, p.(Arg218His)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957403G>A"	""	"likely pathogenic"	""
"0000841693"	"21"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Wivestad-Jansson 2016:26333019}"	""	"BEST1 c.422G>A, p.R141H"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic (recessive)"	""
"0000841694"	"21"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Wivestad-Jansson 2016:26333019}"	""	"BEST1 c.422G>A, p.R141H"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic (recessive)"	""
"0000841695"	"11"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Wivestad-Jansson 2016:26333019}"	""	"BEST1 c.422G>A, p.R141H"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic (recessive)"	""
"0000841696"	"21"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Wivestad-Jansson 2016:26333019}"	""	"BEST1 c.422G>A, p.R141H"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic (recessive)"	""
"0000841697"	"11"	"70"	"11"	"61727389"	"61727389"	"subst"	"4.90132E-5"	"00000"	"BEST1_000037"	"g.61727389T>C"	""	"{PMID:Wivestad-Jansson 2016:26333019}"	""	"BEST1  c.974T>C , p.M325T"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959917T>C"	""	"likely pathogenic (recessive)"	""
"0000841698"	"11"	"70"	"11"	"61727389"	"61727389"	"subst"	"4.90132E-5"	"00000"	"BEST1_000037"	"g.61727389T>C"	""	"{PMID:Wivestad-Jansson 2016:26333019}"	""	"BEST1  c.974T>C , p.M325T"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959917T>C"	""	"likely pathogenic (recessive)"	""
"0000841699"	"21"	"70"	"11"	"61727389"	"61727389"	"subst"	"4.90132E-5"	"00000"	"BEST1_000037"	"g.61727389T>C"	""	"{PMID:Wivestad-Jansson 2016:26333019}"	""	"BEST1  c.974T>C , p.M325T"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959917T>C"	""	"likely pathogenic (recessive)"	""
"0000841700"	"11"	"70"	"11"	"61727389"	"61727389"	"subst"	"4.90132E-5"	"00000"	"BEST1_000037"	"g.61727389T>C"	""	"{PMID:Wivestad-Jansson 2016:26333019}"	""	"BEST1  c.974T>C , p.M325T"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959917T>C"	""	"likely pathogenic (recessive)"	""
"0000841799"	"1"	"70"	"11"	"61725682"	"61725682"	"del"	"0"	"00000"	"BEST1_000139"	"g.61725682del"	""	"{PMID:Preising 2012:23096145}"	""	"779delC"	""	"Germline"	"yes"	""	"0"	""	""	"g.61958210del"	""	"likely pathogenic"	""
"0000841800"	"0"	"70"	"11"	"61725682"	"61725682"	"del"	"0"	"00000"	"BEST1_000139"	"g.61725682del"	""	"{PMID:Preising 2012:23096145}"	""	"BEST1 c.779delC, p.P260Qfs*29"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958210del"	""	"likely pathogenic"	""
"0000841801"	"0"	"70"	"11"	"61726982"	"61726982"	"subst"	"0"	"00000"	"BEST1_000176"	"g.61726982C>T"	""	"{PMID:Preising 2012:23096145}"	""	"BEST1 c.880C>T, p.L294F"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959510C>T"	""	"likely pathogenic"	""
"0000841802"	"0"	"70"	"11"	"61729746"	"61729746"	"dup"	"0"	"00000"	"BEST1_000145"	"g.61729746dup"	""	"{PMID:Preising 2012:23096145}"	""	"BEST1 c.1120dupG, p.E374Gfs*27"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61962274dup"	""	"likely pathogenic"	""
"0000841803"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000313"	"g.61724874C>G"	""	"{PMID:Sodi 2012:23213274}"	""	"BEST1 c.652C>G, p.Arg218Gly"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>G"	""	"likely pathogenic"	""
"0000841804"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000313"	"g.61724874C>G"	""	"{PMID:Sodi 2012:23213274}"	""	"BEST1 c.652C>G, p.Arg218Gly"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>G"	""	"likely pathogenic"	""
"0000841805"	"0"	"70"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:Sodi 2012:23213274}"	""	"BEST1 c.73C>T, p.Arg25Trp"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951879C>T"	""	"likely pathogenic"	""
"0000841806"	"0"	"70"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:Sodi 2012:23213274}"	""	"BEST1 c.73C>T, p.Arg25Trp"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951879C>T"	""	"likely pathogenic"	""
"0000841807"	"0"	"70"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:Sodi 2012:23213274}"	""	"BEST1 c.73C>T, p.Arg25Trp"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951879C>T"	""	"likely pathogenic"	""
"0000841808"	"0"	"70"	"11"	"61726995"	"61726995"	"subst"	"0"	"00000"	"BEST1_000284"	"g.61726995T>C"	""	"{PMID:Sodi 2012:23213274}"	""	"BEST1 c.893T>C, p.Phe298Ser"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959523T>C"	""	"likely pathogenic"	""
"0000841809"	"0"	"70"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:Sodi 2012:23213274}"	""	"BEST1 c.73C>T, p.Arg25Trp"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951879C>T"	""	"likely pathogenic"	""
"0000841810"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Sodi 2012:23213274}"	""	"BEST1 c.652C>T, p.Arg218Cys"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000841811"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Sodi 2012:23213274}"	""	"BEST1 c.652C>T, p.Arg218Cys"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000841812"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Sodi 2012:23213274}"	""	"BEST1 c.652C>T, p.Arg218Cys"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000841813"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000313"	"g.61724874C>G"	""	"{PMID:Sodi 2012:23213274}"	""	"BEST1 c.652C>G, p.Arg218Gly"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>G"	""	"likely pathogenic"	""
"0000841814"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000313"	"g.61724874C>G"	""	"{PMID:Sodi 2012:23213274}"	""	"BEST1 c.652C>G, p.Arg218Gly"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>G"	""	"likely pathogenic"	""
"0000841815"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000313"	"g.61724874C>G"	""	"{PMID:Sodi 2012:23213274}"	""	"BEST1 c.652C>G, p.Arg218Gly"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>G"	""	"likely pathogenic"	""
"0000841816"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000313"	"g.61724874C>G"	""	"{PMID:Sodi 2012:23213274}"	""	"BEST1 c.652C>G, p.Arg218Gly"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>G"	""	"likely pathogenic"	""
"0000841817"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Sodi 2012:23213274}"	""	"BEST1 c.652C>T, p.Arg218Cys"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000841818"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Sodi 2012:23213274}"	""	"BEST1 c.652C>T, p.Arg218Cys"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000841819"	"0"	"70"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:Sodi 2012:23213274}"	""	"BEST1 c.73C>T, p.Arg25Trp"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951879C>T"	""	"likely pathogenic"	""
"0000841820"	"0"	"70"	"11"	"61726995"	"61726995"	"subst"	"0"	"00000"	"BEST1_000284"	"g.61726995T>C"	""	"{PMID:Sodi 2012:23213274}"	""	"BEST1 c.893T>C, p.Phe298Ser"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959523T>C"	""	"likely pathogenic"	""
"0000841821"	"0"	"70"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:Sodi 2012:23213274}"	""	"BEST1 c.73C>T, p.Arg25Trp"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951879C>T"	""	"likely pathogenic"	""
"0000841822"	"0"	"70"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:Sodi 2012:23213274}"	""	"BEST1 c.73C>T, p.Arg25Trp"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951879C>T"	""	"likely pathogenic"	""
"0000841823"	"0"	"70"	"11"	"61722643"	"61722643"	"subst"	"0"	"00000"	"BEST1_000344"	"g.61722643A>C"	""	"{PMID:Sodi 2012:23213274}"	""	"BEST1 c.217A>C, p.Ile73Leu"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955171A>C"	""	"likely pathogenic"	""
"0000841824"	"0"	"70"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:Sodi 2012:23213274}"	""	"BEST1 c.73C>T, p.Arg25Trp"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951879C>T"	""	"likely pathogenic"	""
"0000841825"	"0"	"70"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:Sodi 2012:23213274}"	""	"BEST1 c.73C>T, p.Arg25Trp"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951879C>T"	""	"likely pathogenic"	""
"0000841826"	"0"	"70"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:Sodi 2012:23213274}"	""	"BEST1 c.73C>T, p.Arg25Trp"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951879C>T"	""	"likely pathogenic"	""
"0000841827"	"0"	"70"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:Sodi 2012:23213274}"	""	"BEST1 c.73C>T, p.Arg25Trp"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951879C>T"	""	"likely pathogenic"	""
"0000841828"	"0"	"70"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:Sodi 2012:23213274}"	""	"BEST1 c.73C>T, p.Arg25Trp"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951879C>T"	""	"likely pathogenic"	""
"0000841829"	"0"	"70"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:Sodi 2012:23213274}"	""	"BEST1 c.73C>T, p.Arg25Trp"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951879C>T"	""	"likely pathogenic"	""
"0000841830"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Sodi 2012:23213274}"	""	"BEST1 c.652C>T, p.Arg218Cys"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000841831"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Sodi 2012:23213274}"	""	"BEST1 c.652C>T, p.Arg218Cys"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000841832"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Sodi 2012:23213274}"	""	"BEST1 c.652C>T, p.Arg218Cys"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000841833"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Sodi 2012:23213274}"	""	"BEST1 c.652C>T, p.Arg218Cys"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000841834"	"0"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	""	"{PMID:Sodi 2012:23213274}"	""	"BEST1 c.883_885del, p.Ile295del"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959514_61959516del"	""	"likely pathogenic"	""
"0000841835"	"0"	"70"	"11"	"61727013"	"61727013"	"subst"	"0"	"00000"	"BEST1_000351"	"g.61727013A>G"	""	"{PMID:Sodi 2012:23213274}"	""	"BEST1 c.911A>G, p.Asp304Gly"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959541A>G"	""	"likely pathogenic"	""
"0000841836"	"0"	"70"	"11"	"61727013"	"61727013"	"subst"	"0"	"00000"	"BEST1_000351"	"g.61727013A>G"	""	"{PMID:Sodi 2012:23213274}"	""	"BEST1 c.911A>G, p.Asp304Gly"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959541A>G"	""	"likely pathogenic"	""
"0000841837"	"0"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Sodi 2012:23213274}"	""	"BEST1 c.728C>T, p.Ala234Val"	"error in annotation, c.728C>T causes heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958159C>T"	""	"likely pathogenic"	""
"0000841838"	"0"	"70"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:Sodi 2012:23213274}"	""	"BEST1 c.73C>T, p.Arg25Trp"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951879C>T"	""	"likely pathogenic"	""
"0000841839"	"0"	"70"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:Sodi 2012:23213274}"	""	"BEST1 c.73C>T, p.Arg25Trp"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951879C>T"	""	"likely pathogenic"	""
"0000841840"	"0"	"70"	"11"	"61722665"	"61722665"	"subst"	"0"	"00000"	"BEST1_000345"	"g.61722665T>G"	""	"{PMID:Sodi 2012:23213274}"	""	"BEST1 c.239T>G, p.Phe80Cys"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955193T>G"	""	"likely pathogenic"	""
"0000841841"	"0"	"70"	"11"	"61727009"	"61727009"	"subst"	"0"	"00000"	"BEST1_000350"	"g.61727009G>A"	""	"{PMID:Sodi 2012:23213274}"	""	"BEST1 c.907G>A, p.Asp303Asn"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959537G>A"	""	"likely pathogenic"	""
"0000841844"	"0"	"70"	"11"	"61729838"	"61729838"	"del"	"0"	"00000"	"BEST1_000353"	"g.61729838del"	""	"{PMID:Silva 2013:23572118}, {PMID:Fung 2013:24337562}"	""	"BEST1 c.1212delC"	"no protein annotation, extrapolated from nucleotide; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61962366del"	""	"likely pathogenic"	""
"0000841845"	"0"	"70"	"11"	"61729838"	"61729838"	"del"	"0"	"00000"	"BEST1_000353"	"g.61729838del"	""	"{PMID:Silva 2013:23572118}, {PMID:Fung 2013:24337562}"	""	"BEST1 c.1212delC"	"no nucleotide annotation, extrapolated from protein; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61962366del"	""	"likely pathogenic"	""
"0000841846"	"0"	"70"	"11"	"61724859"	"61724859"	"subst"	"4.06085E-6"	"00000"	"BEST1_000347"	"g.61724859G>A"	""	"{PMID:Silva 2013:23572118}, {PMID:Fung 2013:24337562}"	""	"BEST1 c.637G>A, p.Glu213Lys"	"no protein annotation, extrapolated from nucleotide; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957387G>A"	""	"likely pathogenic"	""
"0000841847"	"0"	"70"	"11"	"61724859"	"61724859"	"subst"	"4.06085E-6"	"00000"	"BEST1_000347"	"g.61724859G>A"	""	"{PMID:Silva 2013:23572118}, {PMID:Fung 2013:24337562}"	""	"BEST1 c.637G>A, p.Glu213Lys"	"no nucleotide annotation, extrapolated from protein; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957387G>A"	""	"likely pathogenic"	""
"0000841905"	"3"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Boon 2013:23290749}"	""	"BEST1 c.422G>A, p.Arg141His"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic"	""
"0000841906"	"3"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Boon 2013:23290749}"	""	"BEST1 c.422G>A, p.Arg141His"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic"	""
"0000841907"	"3"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Boon 2013:23290749}"	""	"BEST1 c.422G>A, p.Arg141His"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic"	""
"0000841908"	"3"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Boon 2013:23290749}"	""	"BEST1 c.422G>A, p.Arg141His"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic"	""
"0000841909"	"1"	"70"	"11"	"61719352"	"61719352"	"subst"	"0"	"00000"	"BEST1_000043"	"g.61719352G>A"	""	"{PMID:Boon 2013:23290749}"	""	"BEST1 c.74G>A, p.Arg25Gln"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951880G>A"	""	"likely pathogenic"	""
"0000841910"	"0"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Boon 2013:23290749}"	""	"BEST1 c.422G>A, p.Arg141His"	"no second allele identified despite ARB phenotype; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic"	""
"0000841911"	"3"	"70"	"11"	"61722601"	"61722602"	"dup"	"0"	"00000"	"BEST1_000343"	"g.61722601_61722602dup"	""	"{PMID:Boon 2013:23290749}"	""	"BEST1 c.175-176dup, p.Gln59Hisfs"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955129_61955130dup"	""	"likely pathogenic"	""
"0000841912"	"3"	"70"	"11"	"61719242"	"61719431"	"del"	"0"	"00000"	"BEST1_000448"	"g.(61717900_61719242)_(61719431_61722578)del"	""	"{PMID:Boon 2013:23290749}"	""	"del ex2 1-?_152+?del, no protein"	""	"Unknown"	"?"	""	"0"	""	""	"g.(61950428_61951770)_(61951959_61955106)del"	""	"likely pathogenic"	""
"0000841913"	"1"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Boon 2013:23290749}"	""	"BEST1 c.422G>A, p.Arg141His"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic"	""
"0000841914"	"3"	"70"	"11"	"61717900"	"61717900"	"subst"	"0"	"00000"	"BEST1_000116"	"g.61717900G>T"	""	"{PMID:Boon 2013:23290749}"	""	"BEST1 c.-37+1G>T, inactivation of splice donor site of exon 1"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61950428G>T"	""	"likely pathogenic"	""
"0000841915"	"2"	"70"	"11"	"61725665"	"61725665"	"del"	"0"	"00000"	"BEST1_000349"	"g.61725665del"	""	"{PMID:Boon 2013:23290749}"	""	"BEST1 c.762delG, p.Arg255Glyfs*4"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958193del"	""	"likely pathogenic"	""
"0000841916"	"2"	"70"	"11"	"61727036"	"61727036"	"subst"	"4.87369E-5"	"00000"	"BEST1_000036"	"g.61727036G>A"	""	"{PMID:Boon 2013:23290749}"	""	"BEST1 c.934G>A, p.Asp312Asn"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959564G>A"	""	"likely pathogenic"	""
"0000841917"	"0"	"70"	"11"	"61725655"	"61725655"	"subst"	"0"	"00000"	"BEST1_000348"	"g.61725655G>A"	""	"{PMID:Sheng 2013:23823511}"	""	"BEST1 c.752 G>A (p.C251Y)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958183G>A"	""	"likely pathogenic"	""
"0000841918"	"0"	"70"	"11"	"61725655"	"61725655"	"subst"	"0"	"00000"	"BEST1_000348"	"g.61725655G>A"	""	"{PMID:Sheng 2013:23823511}"	""	"BEST1 c.752 G>A (p.C251Y)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958183G>A"	""	"likely pathogenic"	""
"0000841919"	"0"	"70"	"11"	"61725655"	"61725655"	"subst"	"0"	"00000"	"BEST1_000348"	"g.61725655G>A"	""	"{PMID:Sheng 2013:23823511}"	""	"BEST1 c.752 G>A (p.C251Y)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958183G>A"	""	"likely pathogenic"	""
"0000841920"	"0"	"70"	"11"	"61725655"	"61725655"	"subst"	"0"	"00000"	"BEST1_000348"	"g.61725655G>A"	""	"{PMID:Sheng 2013:23823511}"	""	"BEST1 c.752 G>A (p.C251Y)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958183G>A"	""	"likely pathogenic"	""
"0000841921"	"0"	"70"	"11"	"61725655"	"61725655"	"subst"	"0"	"00000"	"BEST1_000348"	"g.61725655G>A"	""	"{PMID:Sheng 2013:23823511}"	""	"BEST1 c.752 G>A (p.C251Y)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958183G>A"	""	"likely pathogenic"	""
"0000842127"	"11"	"90"	"11"	"61723221"	"61723221"	"subst"	"0"	"00000"	"BEST1_000012"	"g.61723221G>C"	""	"{PMID:Frennesson 2014:23617333}"	""	"BEST1 W93C"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955749G>C"	""	"pathogenic"	""
"0000842128"	"11"	"90"	"11"	"61723221"	"61723221"	"subst"	"0"	"00000"	"BEST1_000012"	"g.61723221G>C"	""	"{PMID:Frennesson 2014:23617333}"	""	"BEST1 W93C"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955749G>C"	""	"pathogenic"	""
"0000842129"	"11"	"90"	"11"	"61723221"	"61723221"	"subst"	"0"	"00000"	"BEST1_000012"	"g.61723221G>C"	""	"{PMID:Frennesson 2014:23617333}"	""	"BEST1 W93C"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955749G>C"	""	"pathogenic"	""
"0000842130"	"0"	"90"	"11"	"61723221"	"61723221"	"subst"	"0"	"00000"	"BEST1_000012"	"g.61723221G>C"	""	"{PMID:Frennesson 2014:23617333}"	""	"BEST1 W93C"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61955749G>C"	""	"pathogenic"	""
"0000842137"	"0"	"70"	"11"	"61724935"	"61724949"	"del"	"0"	"00000"	"BEST1_000369"	"g.61724935_61724949del"	""	"{PMID:Sharon 2014:24345323}"	""	"BEST1 c.713_714+13del, p.(?)"	"error in annotation, the deletion of 15 nucleotides AGGTGAGGACTAGGC at this locus causes c.713_714+13del, p.(Gln238Argfs*30); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957463_61957477del"	""	"likely pathogenic"	""
"0000842138"	"0"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Sharon 2014:24345323}"	""	"BEST1 c.584C>T, A195V"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic"	""
"0000842139"	"21"	"70"	"11"	"61724935"	"61724949"	"del"	"0"	"00000"	"BEST1_000369"	"g.61724935_61724949del"	""	"{PMID:Sharon 2014:24345323}"	""	"BEST1 c.713del15, Q238L"	"error in annotation, the deletion of 15 nucleotides AGGTGAGGACTAGGC at this locus causes c.713_714+13del, p.(Gln238Argfs*30); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957463_61957477del"	""	"likely pathogenic"	""
"0000842140"	"21"	"70"	"11"	"61724935"	"61724949"	"del"	"0"	"00000"	"BEST1_000369"	"g.61724935_61724949del"	""	"{PMID:Sharon 2014:24345323}"	""	"BEST1 c.713del15, Q238L"	"error in annotation, the deletion of 15 nucleotides AGGTGAGGACTAGGC at this locus causes c.713_714+13del, p.(Gln238Argfs*30); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957463_61957477del"	""	"likely pathogenic"	""
"0000842141"	"0"	"70"	"11"	"61727485"	"61727485"	"subst"	"0.0013356"	"00000"	"BEST1_000065"	"g.61727485C>T"	""	"{PMID:Sharon 2014:24345323}"	""	"BEST1 c.1070C>T, A357V"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61960013C>T"	""	"likely pathogenic"	""
"0000842142"	"21"	"70"	"11"	"61727485"	"61727485"	"subst"	"0.0013356"	"00000"	"BEST1_000065"	"g.61727485C>T"	""	"{PMID:Sharon 2014:24345323}"	""	"BEST1 c.1070C>T, A357V"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61960013C>T"	""	"likely pathogenic"	""
"0000842143"	"21"	"70"	"11"	"61727485"	"61727485"	"subst"	"0.0013356"	"00000"	"BEST1_000065"	"g.61727485C>T"	""	"{PMID:Sharon 2014:24345323}"	""	"BEST1 c.1070C>T, A357V"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61960013C>T"	""	"likely pathogenic"	""
"0000842144"	"11"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Sharon 2014:24345323}"	""	"BEST1 c.584C>T, A195V"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic"	""
"0000842147"	"0"	"70"	"11"	"61726981"	"61726981"	"subst"	"0"	"00000"	"BEST1_000319"	"g.61726981G>C"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.879G>C, p.Q293H"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959509G>C"	""	"likely pathogenic"	""
"0000842148"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.652C>T, p.R218C"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000842149"	"0"	"70"	"11"	"61719289"	"61719289"	"subst"	"0"	"00000"	"BEST1_000207"	"g.61719289C>T"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.11C>T, p.T4I"	"heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61951817C>T"	""	"likely pathogenic"	""
"0000842150"	"11"	"70"	"11"	"61719289"	"61719289"	"subst"	"0"	"00000"	"BEST1_000207"	"g.61719289C>T"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.11C>T, p.T4I"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951817C>T"	""	"likely pathogenic"	""
"0000842151"	"0"	"70"	"11"	"61727004"	"61727004"	"subst"	"0"	"00000"	"BEST1_000324"	"g.61727004A>G"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.902A>G, p.D301G"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959532A>G"	""	"likely pathogenic"	""
"0000842152"	"0"	"70"	"11"	"61726974"	"61726974"	"subst"	"0"	"00000"	"BEST1_000372"	"g.61726974C>T"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.872C>T, p.A291V"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959502C>T"	""	"likely pathogenic"	""
"0000842153"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.652C>T, p.R218C"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000842154"	"3"	"70"	"11"	"61724322"	"61724322"	"subst"	"0"	"00000"	"BEST1_000363"	"g.61724322T>G"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.488T>G, p.M163R"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956850T>G"	""	"likely pathogenic"	""
"0000842155"	"3"	"70"	"11"	"61723331"	"61723331"	"subst"	"0"	"00000"	"BEST1_000362"	"g.61723331G>T"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.389G>T, p.R130L"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955859G>T"	""	"likely pathogenic"	""
"0000842156"	"11"	"70"	"11"	"61724353"	"61724353"	"del"	"0"	"00000"	"BEST1_000365"	"g.61724353del"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.519delA, p.K172Nfs2X"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956881del"	""	"likely pathogenic"	""
"0000842157"	"21"	"70"	"11"	"61725666"	"61725666"	"subst"	"5.27893E-5"	"00000"	"BEST1_000063"	"g.61725666C>T"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.763C>T, p.R255W"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958194C>T"	""	"likely pathogenic"	""
"0000842158"	"21"	"70"	"11"	"61719316"	"61719316"	"subst"	"1.21997E-5"	"00000"	"BEST1_000246"	"g.61719316G>A"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.38G>A, p.R13H"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951844G>A"	""	"likely pathogenic"	""
"0000842159"	"21"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.584C>T, p.A195V"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic"	""
"0000842160"	"21"	"70"	"11"	"61725763"	"61725763"	"subst"	"1.21838E-5"	"00000"	"BEST1_000054"	"g.61725763G>A"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1  c.860G>A, p.W287*"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958291G>A"	""	"likely pathogenic"	""
"0000842161"	"11"	"70"	"11"	"61719375"	"61719375"	"subst"	"4.06722E-6"	"00000"	"BEST1_000357"	"g.61719375T>C"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.97T>C, p.Y33H"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951903T>C"	""	"likely pathogenic"	""
"0000842162"	"11"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.584C>T, p.A195V"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic"	""
"0000842163"	"11"	"70"	"11"	"61725666"	"61725666"	"subst"	"5.27893E-5"	"00000"	"BEST1_000063"	"g.61725666C>T"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.763C>T, p.R255W"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958194C>T"	""	"likely pathogenic"	""
"0000842170"	"0"	"70"	"11"	"61724885"	"61724885"	"subst"	"0"	"00000"	"BEST1_000272"	"g.61724885T>G"	""	"{PMID:Duncker 2014:24526438}"	""	"BEST1 c.663T>G, p.Cys221Trp"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957413T>G"	""	"likely pathogenic"	""
"0000842171"	"0"	"70"	"11"	"61726989"	"61726989"	"subst"	"0"	"00000"	"BEST1_000109"	"g.61726989A>G"	""	"{PMID:Duncker 2014:24526438}"	""	"BEST1 c.887A>G, p.Asn296Ser"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959517A>G"	""	"likely pathogenic"	""
"0000842172"	"0"	"70"	"11"	"61726989"	"61726989"	"subst"	"0"	"00000"	"BEST1_000109"	"g.61726989A>G"	""	"{PMID:Duncker 2014:24526438}"	""	"BEST1 c.887A>G, p.Asn296Ser"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959517A>G"	""	"likely pathogenic"	""
"0000842173"	"0"	"70"	"11"	"61727007"	"61727007"	"subst"	"0"	"00000"	"BEST1_000033"	"g.61727007A>C"	""	"{PMID:Duncker 2014:24526438}"	""	"BEST1 c.905A>C, p.Asp302Ala"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959535A>C"	""	"likely pathogenic"	""
"0000842174"	"0"	"70"	"11"	"61725630"	"61725630"	"subst"	"0"	"00000"	"BEST1_000175"	"g.61725630G>A"	""	"{PMID:Duncker 2014:24526438}"	""	"BEST1 c.727G>A, p.Ala243Thr"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958158G>A"	""	"likely pathogenic"	""
"0000842175"	"0"	"70"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Duncker 2014:24526438}"	""	"BEST1 c.653G>A, p.Arg218His"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957403G>A"	""	"likely pathogenic"	""
"0000842176"	"0"	"70"	"11"	"61719306"	"61719306"	"subst"	"0"	"00000"	"BEST1_000168"	"g.61719306G>A"	""	"{PMID:Duncker 2014:24526438}"	""	"BEST1 c.28G>A, p.Ala10Thr"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951834G>A"	""	"likely pathogenic"	""
"0000842177"	"0"	"70"	"11"	"61725630"	"61725630"	"subst"	"0"	"00000"	"BEST1_000175"	"g.61725630G>A"	""	"{PMID:Duncker 2014:24526438}"	""	"BEST1 c.727G>A, p.Ala243Thr"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958158G>A"	""	"likely pathogenic"	""
"0000842178"	"0"	"70"	"11"	"61725630"	"61725630"	"subst"	"0"	"00000"	"BEST1_000175"	"g.61725630G>A"	""	"{PMID:Duncker 2014:24526438}"	""	"BEST1 c.727G>A, p.Ala243Thr"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958158G>A"	""	"likely pathogenic"	""
"0000842179"	"0"	"70"	"11"	"61725630"	"61725630"	"subst"	"0"	"00000"	"BEST1_000175"	"g.61725630G>A"	""	"{PMID:Duncker 2014:24526438}"	""	"BEST1 c.727G>A, p.Ala243Thr"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958158G>A"	""	"likely pathogenic"	""
"0000842180"	"0"	"70"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Duncker 2014:24526438}"	""	"BEST1 c.653G>A, p.Arg218His"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957403G>A"	""	"likely pathogenic"	""
"0000842181"	"0"	"70"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Duncker 2014:24526438}"	""	"BEST1 c.653G>A, p.Arg218His"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957403G>A"	""	"likely pathogenic"	""
"0000842182"	"0"	"70"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Duncker 2014:24526438}"	""	"BEST1 c.653G>A, p.Arg218His"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957403G>A"	""	"likely pathogenic"	""
"0000842183"	"0"	"70"	"11"	"61724923"	"61724923"	"subst"	"0"	"00000"	"BEST1_000368"	"g.61724923T>C"	""	"{PMID:Duncker 2014:24526438}"	""	"BEST1 c.701T>C, p.Leu234Pro"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957451T>C"	""	"likely pathogenic"	""
"0000842184"	"0"	"70"	"11"	"61719306"	"61719306"	"subst"	"0"	"00000"	"BEST1_000168"	"g.61719306G>A"	""	"{PMID:Querques 2014:24791142}"	""	"BEST1 p.Ala10Thr"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951834G>A"	""	"likely pathogenic"	""
"0000842185"	"0"	"70"	"11"	"61719306"	"61719306"	"subst"	"0"	"00000"	"BEST1_000168"	"g.61719306G>A"	""	"{PMID:Querques 2014:24791142}"	""	"BEST1 p.Ala10Thr"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951834G>A"	""	"likely pathogenic"	""
"0000842186"	"0"	"70"	"11"	"61719307"	"61719307"	"subst"	"0"	"00000"	"BEST1_000098"	"g.61719307C>T"	""	"{PMID:Querques 2014:24791142}"	""	"BEST1 p.Ala10Val"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951835C>T"	""	"likely pathogenic"	""
"0000842187"	"0"	"70"	"11"	"61719307"	"61719307"	"subst"	"0"	"00000"	"BEST1_000098"	"g.61719307C>T"	""	"{PMID:Querques 2014:24791142}"	""	"BEST1 p.Ala10Val"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951835C>T"	""	"likely pathogenic"	""
"0000842188"	"0"	"70"	"11"	"61723214"	"61723214"	"subst"	"0"	"00000"	"BEST1_000257"	"g.61723214C>T"	""	"{PMID:Querques 2014:24791142}"	""	"BEST1 p.Thr91Ile"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955742C>T"	""	"likely pathogenic"	""
"0000842189"	"0"	"70"	"11"	"61723214"	"61723214"	"subst"	"0"	"00000"	"BEST1_000257"	"g.61723214C>T"	""	"{PMID:Querques 2014:24791142}"	""	"BEST1 p.Thr91Ile"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955742C>T"	""	"likely pathogenic"	""
"0000842190"	"0"	"70"	"11"	"61723214"	"61723214"	"subst"	"0"	"00000"	"BEST1_000257"	"g.61723214C>T"	""	"{PMID:Querques 2014:24791142}"	""	"BEST1 p.Thr91Ile"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955742C>T"	""	"likely pathogenic"	""
"0000842191"	"0"	"70"	"11"	"61719304"	"61719304"	"subst"	"0"	"00000"	"BEST1_000244"	"g.61719304T>C"	""	"{PMID:Querques 2014:24791142}"	""	"BEST1 p.Val9Ala"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951832T>C"	""	"likely pathogenic"	""
"0000842192"	"0"	"70"	"11"	"61719304"	"61719304"	"subst"	"0"	"00000"	"BEST1_000244"	"g.61719304T>C"	""	"{PMID:Querques 2014:24791142}"	""	"BEST1 p.Val9Ala"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951832T>C"	""	"likely pathogenic"	""
"0000842193"	"0"	"70"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:Querques 2014:24791142}"	""	"BEST1 p.Arg25Trp"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951879C>T"	""	"likely pathogenic"	""
"0000842194"	"0"	"70"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:Querques 2014:24791142}"	""	"BEST1 p.Arg25Trp"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951879C>T"	""	"likely pathogenic"	""
"0000842195"	"0"	"70"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:Querques 2014:24791142}"	""	"BEST1 p.Arg25Trp"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951879C>T"	""	"likely pathogenic"	""
"0000842196"	"0"	"70"	"11"	"61723216"	"61723216"	"subst"	"0"	"00000"	"BEST1_000258"	"g.61723216C>T"	""	"{PMID:Querques 2014:24791142}"	""	"BEST1 p.Arg92Cys"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955744C>T"	""	"likely pathogenic"	""
"0000842197"	"0"	"70"	"11"	"61723216"	"61723216"	"subst"	"0"	"00000"	"BEST1_000258"	"g.61723216C>T"	""	"{PMID:Querques 2014:24791142}"	""	"BEST1 p.Arg92Cys"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955744C>T"	""	"likely pathogenic"	""
"0000842198"	"0"	"70"	"11"	"61723216"	"61723216"	"subst"	"0"	"00000"	"BEST1_000258"	"g.61723216C>T"	""	"{PMID:Querques 2014:24791142}"	""	"BEST1 p.Arg92Cys"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955744C>T"	""	"likely pathogenic"	""
"0000842199"	"0"	"70"	"11"	"61723216"	"61723216"	"subst"	"0"	"00000"	"BEST1_000258"	"g.61723216C>T"	""	"{PMID:Querques 2014:24791142}"	""	"BEST1 p.Arg92Cys"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955744C>T"	""	"likely pathogenic"	""
"0000842200"	"0"	"70"	"11"	"61724911"	"61724911"	"subst"	"0"	"00000"	"BEST1_000315"	"g.61724911T>C"	""	"{PMID:Querques 2014:24791142}"	""	"BEST1 p.Ile230Thr"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957439T>C"	""	"likely pathogenic"	""
"0000842201"	"0"	"70"	"11"	"61724911"	"61724911"	"subst"	"0"	"00000"	"BEST1_000315"	"g.61724911T>C"	""	"{PMID:Querques 2014:24791142}"	""	"BEST1 p.Ile230Thr"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957439T>C"	""	"likely pathogenic"	""
"0000842202"	"0"	"70"	"11"	"61724911"	"61724911"	"subst"	"0"	"00000"	"BEST1_000315"	"g.61724911T>C"	""	"{PMID:Querques 2014:24791142}"	""	"BEST1 p.Ile230Thr"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957439T>C"	""	"likely pathogenic"	""
"0000842203"	"0"	"70"	"11"	"61719288"	"61719288"	"subst"	"0"	"00000"	"BEST1_000300"	"g.61719288A>G"	""	"{PMID:Querques 2014:24791142}"	""	"BEST1 p.Thr4Ala"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951816A>G"	""	"likely pathogenic"	""
"0000842204"	"0"	"70"	"11"	"61719288"	"61719288"	"subst"	"0"	"00000"	"BEST1_000300"	"g.61719288A>G"	""	"{PMID:Querques 2014:24791142}"	""	"BEST1 p.Thr4Ala"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951816A>G"	""	"likely pathogenic"	""
"0000842205"	"3"	"70"	"11"	"61724471"	"61724471"	"subst"	"0"	"00000"	"BEST1_000125"	"g.61724471G>A"	""	"{PMID:Crowley 2014:24859690}"	""	"BEST1 c.636+1G>A"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956999G>A"	""	"likely pathogenic"	""
"0000842206"	"3"	"70"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:Parodi 2014:25174897}"	""	"BEST1 c.73C>T, p.(Arg25Trp)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951879C>T"	""	"likely pathogenic"	""
"0000842207"	"3"	"70"	"11"	"61719306"	"61719306"	"subst"	"0"	"00000"	"BEST1_000168"	"g.61719306G>A"	""	"{PMID:Parodi 2014:25174897}"	""	"BEST1 c.28G>A, p.(Ala10Thr)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951834G>A"	""	"likely pathogenic"	""
"0000842208"	"3"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000313"	"g.61724874C>G"	""	"{PMID:Parodi 2014:25174897}"	""	"BEST1 c.652C>G, p.(Arg218Gly)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957402C>G"	""	"likely pathogenic"	""
"0000842209"	"3"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000313"	"g.61724874C>G"	""	"{PMID:Parodi 2014:25174897}"	""	"BEST1 c.652C>G, p.(Arg218Gly)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957402C>G"	""	"likely pathogenic"	""
"0000842210"	"3"	"70"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:Parodi 2014:25174897}"	""	"BEST1 c.73C>T, p.(Arg25Trp)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951879C>T"	""	"likely pathogenic"	""
"0000842211"	"3"	"70"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:Parodi 2014:25174897}"	""	"BEST1 c.73C>T, p.(Arg25Trp)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951879C>T"	""	"likely pathogenic"	""
"0000842213"	"0"	"70"	"11"	"61723342"	"61723342"	"subst"	"3.4905E-5"	"00000"	"BEST1_000209"	"g.61723342C>G"	""	"{PMID:Hussain 2015:25265375}"	""	"BEST1 c.400C>G (p.Leu134Val)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955870C>G"	""	"likely pathogenic"	""
"0000842214"	"0"	"70"	"11"	"61724397"	"61724397"	"subst"	"0"	"00000"	"BEST1_000366"	"g.61724397T>C"	""	"{PMID:Hussain 2015:25265375}"	""	"BEST1 c.563T>C (p.Phe188Ser)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956925T>C"	""	"likely pathogenic"	""
"0000842233"	"1"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000370"	"g.61725631C>A"	""	"{PMID:Fung 2015:25545482}"	""	"BEST1 c.728C>A, p.(Ala243Glu)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958159C>A"	""	"likely pathogenic"	""
"0000842234"	"1"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000370"	"g.61725631C>A"	""	"{PMID:Fung 2015:25545482}"	""	"BEST1 c.728C>A, p.(Ala243Glu)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958159C>A"	""	"likely pathogenic"	""
"0000842235"	"3"	"70"	"11"	"61725751"	"61725753"	"del"	"0"	"00000"	"BEST1_000053"	"g.61725751_61725753del"	""	"{PMID:Fung 2015:25545482}"	""	"BEST1 c.847_849delTTC, p.(Phe283del)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958279_61958281del"	""	"likely pathogenic"	""
"0000842236"	"3"	"70"	"11"	"61725724"	"61725724"	"subst"	"2.03031E-5"	"00000"	"BEST1_000152"	"g.61725724C>G"	""	"{PMID:Fung 2015:25545482}"	""	"BEST1 c.821C>G, p.(Pro274Arg)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958252C>G"	""	"likely pathogenic"	""
"0000842237"	"3"	"70"	"11"	"61719312"	"61719312"	"subst"	"0"	"00000"	"BEST1_000216"	"g.61719312G>A"	""	"{PMID:Fung 2015:25545482}"	""	"BEST1 c.-29+5G>A, p.0?"	"different transcript used; NM_001139443.1(BEST1):c.-29+5G>A; no transcript detected; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951840G>A"	""	"likely pathogenic"	""
"0000842238"	"1"	"70"	"11"	"61724432"	"61724432"	"subst"	"1.21878E-5"	"00000"	"BEST1_000311"	"g.61724432C>T"	""	"{PMID:Fung 2015:25545482}"	""	"BEST1 c.598C>T, p.(Arg200*)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956960C>T"	""	"likely pathogenic"	""
"0000842239"	"1"	"70"	"11"	"61724432"	"61724432"	"subst"	"1.21878E-5"	"00000"	"BEST1_000311"	"g.61724432C>T"	""	"{PMID:Fung 2015:25545482}"	""	"BEST1 c.598C>T, p.(Ala243Glu)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956960C>T"	""	"likely pathogenic"	""
"0000842276"	"11"	"70"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:Sodi 2015:25675349}"	""	"BEST1 p.Arg25Trp"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951879C>T"	""	"likely pathogenic"	""
"0000842277"	"21"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Sodi 2015:25675349}"	""	"BEST1 p.Arg218Cys"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000842278"	"11"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Sodi 2015:25675349}"	""	"BEST1 p.Arg218Cys"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000842279"	"11"	"70"	"11"	"61727012"	"61727014"	"del"	"0"	"00000"	"BEST1_000034"	"g.61727012_61727014del"	""	"{PMID:Lin 2015:25936525}"	""	"BEST1 c.910_912delGAT (p.304delAsp)"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959540_61959542del"	""	"likely pathogenic"	""
"0000842280"	"0"	"70"	"11"	"61724907"	"61724907"	"subst"	"0"	"00000"	"BEST1_000367"	"g.61724907T>G"	""	"{PMID:Lin 2015:25936525}"	""	"BEST1 c.685T>G (p.Trp229Gly)"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957435T>G"	""	"likely pathogenic"	""
"0000842281"	"20"	"70"	"11"	"61719286"	"61719286"	"subst"	"0"	"00000"	"BEST1_000354"	"g.61719286T>A"	""	"{PMID:Matson 2015:26099059}"	""	"BEST1 c.8T>A (p.I3N)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951814T>A"	""	"likely pathogenic"	""
"0000842282"	"11"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Johnson 2015:26200502}"	""	"BEST1 R141H (CGC > CAC)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic"	""
"0000842283"	"21"	"70"	"11"	"61727516"	"61727525"	"del"	"0"	"00000"	"BEST1_000376"	"g.61727516_61727525del"	""	"{PMID:Johnson 2015:26200502}"	""	"BEST1 I366fsX18 (c.1098_1100+7del)"	"NM_004183.4:c.1098_1100+7del normalized to NM_004183.4:c.1100+1_1100+10del - it does not cause immediate frameshift, but a splice alteration; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61960044_61960053del"	""	"likely pathogenic"	""
"0000842284"	"0"	"70"	"11"	"61724334"	"61724334"	"subst"	"0"	"00000"	"BEST1_000364"	"g.61724334A>G"	""	"{PMID:Wang 2016:26418331}"	""	"BEST1 p.Tyr167Cys:c.500A>G"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61956862A>G"	""	"likely pathogenic"	""
"0000842285"	"10"	"70"	"11"	"61724448"	"61724448"	"subst"	"0"	"00000"	"BEST1_000312"	"g.61724448T>C"	""	"{PMID:Toto 2016:26716959}"	""	"BEST1 c.614T>C (p.I205T)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956976T>C"	""	"likely pathogenic"	""
"0000842286"	"21"	"70"	"11"	"61724448"	"61724448"	"subst"	"0"	"00000"	"BEST1_000312"	"g.61724448T>C"	""	"{PMID:Toto 2016:26716959}"	""	"BEST1 c.614T>C (p.I205T)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956976T>C"	""	"likely pathogenic"	""
"0000842287"	"21"	"70"	"11"	"61724448"	"61724448"	"subst"	"0"	"00000"	"BEST1_000312"	"g.61724448T>C"	""	"{PMID:Toto 2016:26716959}"	""	"BEST1 c.614T>C (p.I205T)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956976T>C"	""	"likely pathogenic"	""
"0000842288"	"1"	"70"	"11"	"61719397"	"61719397"	"subst"	"0"	"00000"	"BEST1_000358"	"g.61719397T>C"	""	"{PMID:Lee 2015:26720466}"	""	"BEST1 c.119T>C, L40P"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951925T>C"	""	"likely pathogenic"	""
"0000842289"	"1"	"70"	"11"	"61719397"	"61719397"	"subst"	"0"	"00000"	"BEST1_000358"	"g.61719397T>C"	""	"{PMID:Lee 2015:26720466}"	""	"BEST1 c.119T>C, L40P"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951925T>C"	""	"likely pathogenic"	""
"0000842290"	"2"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Lee 2015:26720466}"	""	"BEST1 c.584C>T, A195V"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic"	""
"0000842291"	"2"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Lee 2015:26720466}"	""	"BEST1 c.584C>T, A195V"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic"	""
"0000842292"	"0"	"70"	"10"	"61723198"	"61723198"	"subst"	"0"	"00000"	"BEST1_000101"	"g.61723198G>A"	""	"{PMID:Kellner 2016:26771239}"	""	"BEST1 c.256G>A (Val86Met)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955726G>A"	""	"likely pathogenic"	""
"0000842293"	"0"	"70"	"21"	"61723198"	"61723198"	"subst"	"0"	"00000"	"BEST1_000101"	"g.61723198G>A"	""	"{PMID:Kellner 2016:26771239}"	""	"BEST1 c.256G>A (Val86Met)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955726G>A"	""	"likely pathogenic"	""
"0000842294"	"0"	"70"	"11"	"61723198"	"61723198"	"subst"	"0"	"00000"	"BEST1_000101"	"g.61723198G>A"	""	"{PMID:Kellner 2016:26771239}"	""	"BEST1 c.256G>A (Val86Met)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955726G>A"	""	"likely pathogenic"	""
"0000842314"	"11"	"70"	"10"	"61727013"	"61727013"	"subst"	"0"	"00000"	"BEST1_000351"	"g.61727013A>G"	""	"{PMID:Peiretti 2016:26807628}"	""	"BEST1 c.911A>G, p.Asp304Gly"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959541A>G"	""	"likely pathogenic"	""
"0000842315"	"11"	"70"	"10"	"61727013"	"61727013"	"subst"	"0"	"00000"	"BEST1_000351"	"g.61727013A>G"	""	"{PMID:Peiretti 2016:26807628}"	""	"BEST1 c.911A>G, p.Asp304Gly"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959541A>G"	""	"likely pathogenic"	""
"0000842316"	"10"	"70"	"10"	"61727013"	"61727013"	"subst"	"0"	"00000"	"BEST1_000351"	"g.61727013A>G"	""	"{PMID:Peiretti 2016:26807628}"	""	"BEST1 c.911A>G, p.Asp304Gly"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959541A>G"	""	"likely pathogenic"	""
"0000842317"	"10"	"70"	"10"	"61727013"	"61727013"	"subst"	"0"	"00000"	"BEST1_000351"	"g.61727013A>G"	""	"{PMID:Peiretti 2016:26807628}"	""	"BEST1 c.911A>G, p.Asp304Gly"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959541A>G"	""	"likely pathogenic"	""
"0000842318"	"10"	"70"	"10"	"61727013"	"61727013"	"subst"	"0"	"00000"	"BEST1_000351"	"g.61727013A>G"	""	"{PMID:Peiretti 2016:26807628}"	""	"BEST1 c.911A>G, p.Asp304Gly"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959541A>G"	""	"likely pathogenic"	""
"0000842357"	"0"	"70"	"11"	"61723190"	"61723190"	"subst"	"0"	"00000"	"BEST1_000360"	"g.61723190G>A"	""	"{PMID:Chen 2016:26849243}"	""	"BEST1 c.248G>A, p.(Gly83Asp)"	"although previous studies showed alteration in pre-mRNA splicing, in vitro splicing assays failed to demonstrate this in our patient; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955718G>A"	""	"likely pathogenic"	""
"0000842358"	"0"	"70"	"11"	"61727022"	"61727022"	"subst"	"0"	"00000"	"BEST1_000374"	"g.61727022C>A"	""	"{PMID:Liu 2016:27078032}"	""	"BEST1 c.920C>A, T307N"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959550C>A"	""	"likely pathogenic"	""
"0000842359"	"11"	"70"	"11"	"61727022"	"61727022"	"subst"	"0"	"00000"	"BEST1_000374"	"g.61727022C>A"	""	"{PMID:Liu 2016:27078032}"	""	"BEST1 c.920C>A, T307N"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959550C>A"	""	"likely pathogenic"	""
"0000842360"	"0"	"70"	"11"	"61726976"	"61726976"	"subst"	"0"	"00000"	"BEST1_000108"	"g.61726976G>A"	""	"{PMID:Liu 2016:27078032}"	""	"BEST1 c.874G>A, E292K"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959504G>A"	""	"likely pathogenic"	""
"0000842361"	"11"	"70"	"11"	"61726976"	"61726976"	"subst"	"0"	"00000"	"BEST1_000108"	"g.61726976G>A"	""	"{PMID:Liu 2016:27078032}"	""	"BEST1 c.874G>A, E292K"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959504G>A"	""	"likely pathogenic"	""
"0000842362"	"0"	"70"	"11"	"61719325"	"61719325"	"subst"	"0"	"00000"	"BEST1_000169"	"g.61719325C>T"	""	"{PMID:Liu 2016:27078032}"	""	"BEST1 c.47C>T, S16F"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951853C>T"	""	"likely pathogenic"	""
"0000842363"	"21"	"70"	"11"	"61719325"	"61719325"	"subst"	"0"	"00000"	"BEST1_000169"	"g.61719325C>T"	""	"{PMID:Liu 2016:27078032}"	""	"BEST1 c.47C>T, S16F"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951853C>T"	""	"likely pathogenic"	""
"0000842364"	"0"	"70"	"11"	"61719418"	"61719418"	"subst"	"1.62631E-5"	"00000"	"BEST1_000196"	"g.61719418G>A"	""	"{PMID:Liu 2016:27078032}"	""	"BEST1 c.140G>A, R47H"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951946G>A"	""	"likely pathogenic"	""
"0000842365"	"0"	"70"	"11"	"61723373"	"61723373"	"subst"	"0"	"00000"	"BEST1_000307"	"g.61723373G>A"	""	"{PMID:Liu 2016:27078032}"	""	"BEST1 c.431G>A, S144N"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955901G>A"	""	"likely pathogenic"	""
"0000842366"	"0"	"70"	"11"	"61727000"	"61727000"	"subst"	"0"	"00000"	"BEST1_000142"	"g.61727000G>A"	""	"{PMID:Liu 2016:27078032}"	""	"BEST1 c.898G>A, E300K"	"no nucleotide annotation, writen, extrapolated from protein change; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959528G>A"	""	"likely pathogenic"	""
"0000842367"	"11"	"70"	"11"	"61725621"	"61725621"	"del"	"0"	"00000"	"BEST1_000355"	"g.61725621del"	""	"{PMID:Kubota 2016:27071392}"	""	"BEST1 c.717delG, p.V239VfsX2"	"error in annotation, this change causes immediate stop and not frameshift; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958149del"	""	"likely pathogenic (recessive)"	""
"0000842368"	"21"	"70"	"11"	"61725666"	"61725666"	"subst"	"5.27893E-5"	"00000"	"BEST1_000063"	"g.61725666C>T"	""	"{PMID:Kubota 2016:27071392}"	""	"BEST1 c.763C>T, p.R255W"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958194C>T"	""	"likely pathogenic (recessive)"	""
"0000842411"	"0"	"70"	"11"	"61725666"	"61725666"	"subst"	"5.27893E-5"	"00000"	"BEST1_000063"	"g.61725666C>T"	""	"{PMID:Nakanishi 2016:27163236}"	""	"BEST1 c.763C>T, p.R255W"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958194C>T"	""	"likely pathogenic (recessive)"	""
"0000842412"	"0"	"70"	"11"	"61725666"	"61725666"	"subst"	"5.27893E-5"	"00000"	"BEST1_000063"	"g.61725666C>T"	""	"{PMID:Nakanishi 2016:27163236}"	""	"BEST1 c.763C>T, p.R255W"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958194C>T"	""	"likely pathogenic (recessive)"	""
"0000842413"	"0"	"70"	"11"	"61725666"	"61725666"	"subst"	"5.27893E-5"	"00000"	"BEST1_000063"	"g.61725666C>T"	""	"{PMID:Nakanishi 2016:27163236}"	""	"BEST1 c.763C>T, p.R255W"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958194C>T"	""	"likely pathogenic (recessive)"	""
"0000842414"	"0"	"70"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:Nakanishi 2016:27163236}"	""	"BEST1 c.73C>T, p.R25W"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951879C>T"	""	"likely pathogenic (recessive)"	""
"0000842415"	"0"	"70"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:Nakanishi 2016:27163236}"	""	"BEST1 c.73C>T, p.R25W"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951879C>T"	""	"likely pathogenic (recessive)"	""
"0000842416"	"0"	"70"	"11"	"61719380"	"61719380"	"subst"	"1.62715E-5"	"00000"	"BEST1_000131"	"g.61719380C>T"	""	"{PMID:Nakanishi 2016:27163236}"	""	"BEST1 c.102C>T, p.G34G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951908C>T"	""	"likely pathogenic (recessive)"	""
"0000842417"	"0"	"70"	"11"	"61723420"	"61723420"	"subst"	"0"	"00000"	"BEST1_000241"	"g.61723420G>C"	""	"{PMID:Nakanishi 2016:27163236}"	""	"BEST1 c.478G>C, p.A160P"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955948G>C"	""	"likely pathogenic (recessive)"	""
"0000842418"	"0"	"70"	"11"	"61727010"	"61727010"	"subst"	"0"	"00000"	"BEST1_000373"	"g.61727010A>G"	""	"{PMID:Nakanishi 2016:27163236}"	""	"BEST1 c.908A>G, p.D303G"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959538A>G"	""	"likely pathogenic (recessive)"	""
"0000842419"	"0"	"70"	"11"	"61727051"	"61727051"	"del"	"0"	"00000"	"BEST1_000375"	"g.61727051del"	""	"{PMID:Nakanishi 2016:27163236}"	""	"BEST1 c.948+1delG"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959579del"	""	"likely pathogenic (recessive)"	""
"0000842420"	"0"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Nakanishi 2016:27163236}"	""	"BEST1 c.584C>T, p.A195V"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic (recessive)"	""
"0000842421"	"0"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Nakanishi 2016:27163236}"	""	"BEST1 c.584C>T, p.A195V"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic (recessive)"	""
"0000842422"	"0"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Nakanishi 2016:27163236}"	""	"BEST1 c.584C>T, p.A195V"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic (recessive)"	""
"0000842423"	"0"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Nakanishi 2016:27163236}"	""	"BEST1 c.584C>T, p.A195V"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic (recessive)"	""
"0000842424"	"10"	"70"	"11"	"61719321"	"61719321"	"subst"	"0"	"00000"	"BEST1_000356"	"g.61719321G>C"	""	"{PMID:Glavak 2016:27775230}"	""	"BEST1 G15R"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951849G>C"	""	"likely pathogenic"	""
"0000842425"	"11"	"70"	"11"	"61719321"	"61719321"	"subst"	"0"	"00000"	"BEST1_000356"	"g.61719321G>C"	""	"{PMID:Glavak 2016:27775230}"	""	"BEST1 G15R"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951849G>C"	""	"likely pathogenic"	""
"0000842426"	"11"	"70"	"11"	"61719321"	"61719321"	"subst"	"0"	"00000"	"BEST1_000356"	"g.61719321G>C"	""	"{PMID:Glavak 2016:27775230}"	""	"BEST1 G15R"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951849G>C"	""	"likely pathogenic"	""
"0000842427"	"10"	"70"	"11"	"61723255"	"61723255"	"subst"	"0"	"00000"	"BEST1_000361"	"g.61723255C>G"	""	"{PMID:Glavak 2016:27775230}"	""	"BEST1 R105G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955783C>G"	""	"likely pathogenic"	""
"0000842428"	"10"	"70"	"11"	"61723255"	"61723255"	"subst"	"0"	"00000"	"BEST1_000361"	"g.61723255C>G"	""	"{PMID:Glavak 2016:27775230}"	""	"BEST1 R105G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955783C>G"	""	"likely pathogenic"	""
"0000842429"	"21"	"70"	"11"	"61723255"	"61723255"	"subst"	"0"	"00000"	"BEST1_000361"	"g.61723255C>G"	""	"{PMID:Glavak 2016:27775230}"	""	"BEST1 R105G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955783C>G"	""	"likely pathogenic"	""
"0000842430"	"21"	"70"	"11"	"61723255"	"61723255"	"subst"	"0"	"00000"	"BEST1_000361"	"g.61723255C>G"	""	"{PMID:Glavak 2016:27775230}"	""	"BEST1 R105G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955783C>G"	""	"likely pathogenic"	""
"0000842431"	"21"	"70"	"11"	"61723255"	"61723255"	"subst"	"0"	"00000"	"BEST1_000361"	"g.61723255C>G"	""	"{PMID:Glavak 2016:27775230}"	""	"BEST1 R105G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955783C>G"	""	"likely pathogenic"	""
"0000842432"	"21"	"70"	"11"	"61723255"	"61723255"	"subst"	"0"	"00000"	"BEST1_000361"	"g.61723255C>G"	""	"{PMID:Glavak 2016:27775230}"	""	"BEST1 R105G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955783C>G"	""	"likely pathogenic"	""
"0000842433"	"21"	"70"	"11"	"61723255"	"61723255"	"subst"	"0"	"00000"	"BEST1_000361"	"g.61723255C>G"	""	"{PMID:Glavak 2016:27775230}"	""	"BEST1 R105G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955783C>G"	""	"likely pathogenic"	""
"0000842434"	"11"	"70"	"11"	"61723255"	"61723255"	"subst"	"0"	"00000"	"BEST1_000361"	"g.61723255C>G"	""	"{PMID:Glavak 2016:27775230}"	""	"BEST1 R105G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955783C>G"	""	"likely pathogenic"	""
"0000842435"	"0"	"70"	"11"	"61723255"	"61723255"	"subst"	"0"	"00000"	"BEST1_000361"	"g.61723255C>G"	""	"{PMID:Glavak 2016:27775230}"	""	"BEST1 R105G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955783C>G"	""	"likely pathogenic"	""
"0000842436"	"21"	"70"	"11"	"61723255"	"61723255"	"subst"	"0"	"00000"	"BEST1_000361"	"g.61723255C>G"	""	"{PMID:Glavak 2016:27775230}"	""	"BEST1 R105G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955783C>G"	""	"likely pathogenic"	""
"0000842437"	"21"	"70"	"11"	"61723255"	"61723255"	"subst"	"0"	"00000"	"BEST1_000361"	"g.61723255C>G"	""	"{PMID:Glavak 2016:27775230}"	""	"BEST1 R105G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955783C>G"	""	"likely pathogenic"	""
"0000842438"	"21"	"70"	"11"	"61723255"	"61723255"	"subst"	"0"	"00000"	"BEST1_000361"	"g.61723255C>G"	""	"{PMID:Glavak 2016:27775230}"	""	"BEST1 R105G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955783C>G"	""	"likely pathogenic"	""
"0000842439"	"21"	"70"	"11"	"61723255"	"61723255"	"subst"	"0"	"00000"	"BEST1_000361"	"g.61723255C>G"	""	"{PMID:Glavak 2016:27775230}"	""	"BEST1 R105G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955783C>G"	""	"likely pathogenic"	""
"0000842440"	"21"	"70"	"11"	"61723255"	"61723255"	"subst"	"0"	"00000"	"BEST1_000361"	"g.61723255C>G"	""	"{PMID:Glavak 2016:27775230}"	""	"BEST1 R105G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955783C>G"	""	"likely pathogenic"	""
"0000842441"	"0"	"70"	"11"	"61723255"	"61723255"	"subst"	"0"	"00000"	"BEST1_000361"	"g.61723255C>G"	""	"{PMID:Glavak 2016:27775230}"	""	"BEST1 R105G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955783C>G"	""	"likely pathogenic"	""
"0000842442"	"11"	"70"	"11"	"61723255"	"61723255"	"subst"	"0"	"00000"	"BEST1_000361"	"g.61723255C>G"	""	"{PMID:Glavak 2016:27775230}"	""	"BEST1 R105G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955783C>G"	""	"likely pathogenic"	""
"0000842443"	"0"	"70"	"11"	"61723255"	"61723255"	"subst"	"0"	"00000"	"BEST1_000361"	"g.61723255C>G"	""	"{PMID:Glavak 2016:27775230}"	""	"BEST1 R105G"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955783C>G"	""	"likely pathogenic"	""
"0000842501"	"21"	"70"	"11"	"61724914"	"61724914"	"subst"	"0"	"00000"	"BEST1_000316"	"g.61724914G>C"	""	"{PMID:Arora 2016:27287821}"	""	"BEST1 c.692G>C, p.Ser231Thr"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957442G>C"	""	"likely pathogenic"	""
"0000842502"	"21"	"70"	"11"	"61724914"	"61724914"	"subst"	"0"	"00000"	"BEST1_000316"	"g.61724914G>C"	""	"{PMID:Arora 2016:27287821}"	""	"BEST1 c.692G>C, p.Ser231Thr"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957442G>C"	""	"likely pathogenic"	""
"0000842503"	"11"	"70"	"11"	"61719325"	"61719325"	"subst"	"0"	"00000"	"BEST1_000169"	"g.61719325C>T"	""	"{PMID:Arora 2016:27287821}"	""	"BEST1 c.47C>T, p.Ser16Phe"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951853C>T"	""	"likely pathogenic"	""
"0000842504"	"11"	"70"	"11"	"61726976"	"61726976"	"subst"	"0"	"00000"	"BEST1_000108"	"g.61726976G>A"	""	"{PMID:Arora 2016:27287821}"	""	"BEST1 c.874G>A, p.Glu292Lys"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959504G>A"	""	"likely pathogenic"	""
"0000842505"	"21"	"70"	"11"	"61726994"	"61726994"	"subst"	"0"	"00000"	"BEST1_000236"	"g.61726994T>G"	""	"{PMID:Arora 2016:27287821}"	""	"BEST1 c.892T>G, p.Phe298Val"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959522T>G"	""	"likely pathogenic"	""
"0000842506"	"10"	"70"	"11"	"61723342"	"61723342"	"subst"	"3.4905E-5"	"00000"	"BEST1_000209"	"g.61723342C>G"	""	"{PMID:Gottwalt 2017:27503085}"	""	"BEST1 c.400 C > G; p.Leu134Val"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955870C>G"	""	"likely pathogenic"	""
"0000842507"	"21"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Gottwalt 2017:27503085}"	""	"BEST1 c.422 G > A; p.Arg141His"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic"	""
"0000842509"	"0"	"70"	"11"	"61724902"	"61724902"	"subst"	"0"	"00000"	"BEST1_000136"	"g.61724902A>G"	""	"{PMID:Schonbach 2017:27548040}"	""	"BEST1"	"different transcript, NM_001139443.1(BEST1):c.500A>G, p.(Tyr167Cys); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957430A>G"	"RCV000002873.5"	"likely pathogenic"	""
"0000842510"	"0"	"70"	"11"	"61719316"	"61719316"	"subst"	"1.21997E-5"	"00000"	"BEST1_000246"	"g.61719316G>A"	""	"{PMID:Zhong 2017:28056057}"	""	"BEST1 c.38G>A, p.R13H"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951844G>A"	""	"likely pathogenic"	""
"0000842511"	"3"	"70"	"11"	"61725666"	"61725666"	"subst"	"5.27893E-5"	"00000"	"BEST1_000063"	"g.61725666C>T"	""	"{PMID:Zhong 2017:28056057}"	""	"BEST1 c.763C>T, p.R255W"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958194C>T"	""	"likely pathogenic"	""
"0000842512"	"1"	"70"	"11"	"61723331"	"61723331"	"subst"	"0"	"00000"	"BEST1_000362"	"g.61723331G>T"	""	"{PMID:Zhong 2017:28056057}"	""	"BEST1 c.389G>T, p.R130L"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955859G>T"	""	"likely pathogenic"	""
"0000842513"	"1"	"70"	"11"	"61725745"	"61725745"	"subst"	"0"	"00000"	"BEST1_000371"	"g.61725745T>C"	""	"{PMID:Zhong 2017:28056057}"	""	"BEST1 c.842T>C, p.F281S"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958273T>C"	""	"likely pathogenic"	""
"0000842514"	"1"	"70"	"11"	"61727485"	"61727485"	"subst"	"0.0013356"	"00000"	"BEST1_000065"	"g.61727485C>T"	""	"{PMID:Zhong 2017:28056057}"	""	"BEST1 c.1070C>T, p.A357V"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61960013C>T"	""	"likely pathogenic"	""
"0000842515"	"1"	"70"	"11"	"61725667"	"61725667"	"subst"	"1.62433E-5"	"00000"	"BEST1_000077"	"g.61725667G>A"	""	"{PMID:Zhong 2017:28056057}"	""	"BEST1 c.764G>A, p.R255Q"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958195G>A"	""	"likely pathogenic"	""
"0000842516"	"3"	"70"	"11"	"61727481"	"61727481"	"subst"	"4.16691E-6"	"00000"	"BEST1_000144"	"g.61727481C>T"	""	"{PMID:Zhong 2017:28056057}"	""	"BEST1 c.1066C>T, p.R356*"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61960009C>T"	""	"likely pathogenic"	""
"0000842517"	"1"	"70"	"11"	"61725667"	"61725667"	"subst"	"1.62433E-5"	"00000"	"BEST1_000077"	"g.61725667G>A"	""	"{PMID:Zhong 2017:28056057}"	""	"BEST1 c.764G>A, p.R255Q"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958195G>A"	""	"likely pathogenic"	""
"0000842518"	"2"	"70"	"11"	"61725666"	"61725666"	"subst"	"5.27893E-5"	"00000"	"BEST1_000063"	"g.61725666C>T"	""	"{PMID:Zhong 2017:28056057}"	""	"BEST1 c.763C>T, p.R255W"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958194C>T"	""	"likely pathogenic"	""
"0000842519"	"2"	"70"	"11"	"61724322"	"61724322"	"subst"	"0"	"00000"	"BEST1_000363"	"g.61724322T>G"	""	"{PMID:Zhong 2017:28056057}"	""	"BEST1 c.488T>G, p.M163R"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61956850T>G"	""	"likely pathogenic"	""
"0000842520"	"2"	"70"	"11"	"61722675"	"61722675"	"subst"	"0"	"00000"	"BEST1_000359"	"g.61722675T>G"	""	"{PMID:Zhong 2017:28056057}"	""	"BEST1 c.247+2T>G, Splicing defect"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955203T>G"	""	"likely pathogenic"	""
"0000842521"	"2"	"70"	"11"	"61730176"	"61730176"	"subst"	"1.62446E-5"	"00000"	"BEST1_000377"	"g.61730176C>G"	""	"{PMID:Zhong 2017:28056057}"	""	"BEST1 c.1550C>G, p.S517*"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61962704C>G"	""	"likely pathogenic"	""
"0000842522"	"2"	"70"	"11"	"61725733"	"61725733"	"subst"	"8.1215E-6"	"00000"	"BEST1_000165"	"g.61725733C>T"	""	"{PMID:Zhong 2017:28056057}"	""	"BEST1 c.830C>T, p.T277M"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958261C>T"	""	"likely pathogenic"	""
"0000842523"	"2"	"70"	"11"	"61725666"	"61725666"	"subst"	"5.27893E-5"	"00000"	"BEST1_000063"	"g.61725666C>T"	""	"{PMID:Zhong 2017:28056057}"	""	"BEST1 c.763C>T, p.R255W"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958194C>T"	""	"likely pathogenic"	""
"0000842527"	"0"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Khan 2018:28225368}"	""	"BEST1 p.Ala243Val"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958159C>T"	""	"likely pathogenic"	""
"0000842528"	"0"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Khan 2018:28225368}"	""	"BEST1 p.Ala243Val"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958159C>T"	""	"likely pathogenic"	""
"0000842529"	"0"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Khan 2018:28225368}"	""	"BEST1 p.Ala243Val"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958159C>T"	""	"likely pathogenic"	""
"0000842530"	"0"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Khan 2018:28225368}"	""	"BEST1 p.Ala243Val"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958159C>T"	""	"likely pathogenic"	""
"0000842531"	"0"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Khan 2018:28225368}"	""	"BEST1 p.Ala243Val"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958159C>T"	""	"likely pathogenic"	""
"0000842532"	"0"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Khan 2018:28225368}"	""	"BEST1 p.Ala243Val"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958159C>T"	""	"likely pathogenic"	""
"0000842533"	"0"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Khan 2018:28225368}"	""	"BEST1 p.Ala243Val"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958159C>T"	""	"likely pathogenic"	""
"0000842534"	"0"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Khan 2018:28225368}"	""	"BEST1 p.Ala243Val"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958159C>T"	""	"likely pathogenic"	""
"0000842535"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Khan 2018:28225368}"	""	"BEST1 p.Arg218Cys"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000842536"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Khan 2018:28225368}"	""	"BEST1 p.Arg218Cys"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000842537"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Khan 2018:28225368}"	""	"BEST1 p.Arg218Cys"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000842538"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Khan 2018:28225368}"	""	"BEST1 p.Arg218Cys"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000842539"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Khan 2018:28225368}"	""	"BEST1 p.Arg218Cys"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000842540"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Khan 2018:28225368}"	""	"BEST1 p.Arg218Cys"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000842541"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Khan 2018:28225368}"	""	"BEST1 p.Arg218Cys"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000842542"	"0"	"70"	"11"	"61727481"	"61727481"	"subst"	"4.16691E-6"	"00000"	"BEST1_000144"	"g.61727481C>T"	""	"{PMID:Khan 2017:27764019}"	""	"BEST1 p.Arg356X"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61960009C>T"	""	"likely pathogenic"	""
"0000842543"	"0"	"70"	"11"	"61724436"	"61724436"	"subst"	"6.50042E-5"	"00000"	"BEST1_000212"	"g.61724436T>C"	""	"{PMID:Khan 2017:27764019}"	""	"BEST1 p.Ile201Thr"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61956964T>C"	""	"likely pathogenic"	""
"0000842544"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Khan 2017:27764019}"	""	"BEST1 p.Arg218Cys"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000842545"	"0"	"70"	"11"	"61726994"	"61726994"	"subst"	"0"	"00000"	"BEST1_000236"	"g.61726994T>G"	""	"{PMID:Khan 2017:27764019}"	""	"BEST1 p.Phe298Val"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959522T>G"	""	"likely pathogenic"	""
"0000842546"	"0"	"70"	"11"	"61719325"	"61719325"	"subst"	"0"	"00000"	"BEST1_000169"	"g.61719325C>T"	""	"{PMID:Khan 2017:27764019}"	""	"BEST1 p.Ser16Phe"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951853C>T"	""	"likely pathogenic"	""
"0000842547"	"0"	"70"	"11"	"61723255"	"61723255"	"subst"	"0"	"00000"	"BEST1_000361"	"g.61723255C>G"	""	"{PMID:Khan 2017:27764019}"	""	"BEST1 p.Arg105Gly"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955783C>G"	""	"likely pathogenic"	""
"0000842548"	"0"	"70"	"11"	"61726994"	"61726994"	"subst"	"0"	"00000"	"BEST1_000236"	"g.61726994T>G"	""	"{PMID:Khan 2017:27764019}"	""	"BEST1 p.Phe298Val"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959522T>G"	""	"likely pathogenic"	""
"0000842551"	"3"	"70"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Hardin 2017:28481155}"	""	"BEST1 c.473G>A, p.R218H"	"nucleotide and protein given for different transcripts: NM_001139443.1(BEST1):c.473G>A causes p.(Arg158His), NM_004183.4(BEST1):c.653G>A causes p.(Arg218His); homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957403G>A"	""	"likely pathogenic"	""
"0000842552"	"21"	"70"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Hardin 2017:28481155}"	""	"BEST1 c.473G>A, p.R218H"	"nucleotide and protein given for different transcripts: NM_001139443.1(BEST1):c.473G>A causes p.(Arg158His), NM_004183.4(BEST1):c.653G>A causes p.(Arg218His); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957403G>A"	""	"likely pathogenic"	""
"0000842553"	"3"	"70"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Hardin 2017:28481155}"	""	"BEST1 c.473G>A, p.R218H"	"nucleotide and protein given for different transcripts: NM_001139443.1(BEST1):c.473G>A causes p.(Arg158His), NM_004183.4(BEST1):c.653G>A causes p.(Arg218His); homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957403G>A"	""	"likely pathogenic"	""
"0000842554"	"3"	"70"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Hardin 2017:28481155}"	""	"BEST1 c.473G>A, p.R218H"	"nucleotide and protein given for different transcripts: NM_001139443.1(BEST1):c.473G>A causes p.(Arg158His), NM_004183.4(BEST1):c.653G>A causes p.(Arg218His); homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957403G>A"	""	"likely pathogenic"	""
"0000842564"	"0"	"70"	"11"	"61722645"	"61722645"	"subst"	"0"	"00000"	"BEST1_000398"	"g.61722645C>G"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.219C>G, p.I73M"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955173C>G"	""	"likely pathogenic"	""
"0000842565"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.652C>T, p.R218C"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000842566"	"0"	"70"	"11"	"61722653"	"61722653"	"subst"	"0"	"00000"	"BEST1_000401"	"g.61722653T>C"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.227T>C, p.I76T"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955181T>C"	""	"likely pathogenic"	""
"0000842567"	"0"	"70"	"11"	"61723223"	"61723223"	"subst"	"0"	"00000"	"BEST1_000409"	"g.61723223G>T"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.281G>T, p.W94L"	"heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61955751G>T"	""	"likely pathogenic"	""
"0000842568"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.652C>T, p.R218C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000842569"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.652C>T, p.R218C"	"heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000842570"	"0"	"70"	"11"	"61723255"	"61723255"	"subst"	"0"	"00000"	"BEST1_000361"	"g.61723255C>G"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.313C>G, p.R105G"	"heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61955783C>G"	""	"likely pathogenic"	""
"0000842571"	"0"	"70"	"11"	"61722654"	"61722654"	"subst"	"0"	"00000"	"BEST1_000403"	"g.61722654C>G"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.228C>G, p.I76M"	"heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61955182C>G"	""	"likely pathogenic"	""
"0000842572"	"0"	"70"	"11"	"61723220"	"61723220"	"subst"	"0"	"00000"	"BEST1_000408"	"g.61723220G>C"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.278G>C, p.W93S"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955748G>C"	""	"likely pathogenic"	""
"0000842573"	"0"	"70"	"11"	"61719295"	"61719295"	"subst"	"0"	"00000"	"BEST1_000084"	"g.61719295C>G"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.17C>G, p.T6R"	"heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61951823C>G"	""	"likely pathogenic"	""
"0000842574"	"0"	"70"	"11"	"61723231"	"61723231"	"subst"	"0"	"00000"	"BEST1_000410"	"g.61723231T>C"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.289T>C, p.Y97H"	"heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61955759T>C"	""	"likely pathogenic"	""
"0000842575"	"0"	"70"	"11"	"61719325"	"61719325"	"subst"	"0"	"00000"	"BEST1_000169"	"g.61719325C>T"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.47C>T, p.S16F"	"heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61951853C>T"	""	"likely pathogenic"	""
"0000842576"	"0"	"70"	"11"	"61722667"	"61722667"	"subst"	"0"	"00000"	"BEST1_000304"	"g.61722667G>A"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.241G>A, p.V81M"	"heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61955195G>A"	""	"likely pathogenic"	""
"0000842577"	"0"	"70"	"11"	"61719333"	"61719333"	"subst"	"1.21923E-5"	"00000"	"BEST1_000386"	"g.61719333C>T"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.55C>T, p.R19C"	"heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61951861C>T"	""	"likely pathogenic"	""
"0000842578"	"0"	"70"	"11"	"61719298"	"61719298"	"subst"	"2.44129E-5"	"00000"	"BEST1_000342"	"g.61719298G>A"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.20G>A, p.S7N"	"heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61951826G>A"	""	"likely pathogenic"	""
"0000842579"	"0"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.584C>T, p.A195V"	"heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic"	""
"0000842580"	"0"	"70"	"11"	"61719316"	"61719316"	"subst"	"1.21997E-5"	"00000"	"BEST1_000246"	"g.61719316G>A"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.38G>A, p.R13H"	"homozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61951844G>A"	""	"likely pathogenic"	""
"0000842581"	"0"	"70"	"11"	"61723268"	"61723268"	"subst"	"0"	"00000"	"BEST1_000411"	"g.61723268T>G"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.326T>G, p.L109Y"	"error in annotation: c.326T>G causes p.L109R and not p.L109Y; heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61955796T>G"	""	"likely pathogenic"	""
"0000842582"	"0"	"70"	"11"	"61719418"	"61719418"	"subst"	"1.62631E-5"	"00000"	"BEST1_000196"	"g.61719418G>A"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.140G>A, p.R47H"	"heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61951946G>A"	""	"likely pathogenic"	""
"0000842583"	"0"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.584C>T, p.A195V"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic"	""
"0000842584"	"0"	"70"	"11"	"61727363"	"61727363"	"subst"	"0"	"00000"	"BEST1_000438"	"g.61727363G>A"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.949-1G>A, c.948-1G>A"	"homozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61959891G>A"	""	"likely pathogenic"	""
"0000842585"	"0"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.584C>T, p.A195V"	"heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic"	""
"0000842586"	"0"	"70"	"11"	"61726968"	"61726968"	"subst"	"4.06111E-6"	"00000"	"BEST1_000338"	"g.61726968A>G"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.868-2A>G, c.868-2A>G"	"homozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61959496A>G"	""	"likely pathogenic"	""
"0000842587"	"0"	"70"	"11"	"61724322"	"61724322"	"subst"	"0"	"00000"	"BEST1_000363"	"g.61724322T>G"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.488T>G, p.M163R"	"heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61956850T>G"	""	"likely pathogenic"	""
"0000842588"	"0"	"70"	"11"	"61719408"	"61719408"	"subst"	"0"	"00000"	"BEST1_000392"	"g.61719408T>C"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.130T>C, p.Y44H"	"heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61951936T>C"	""	"likely pathogenic"	""
"0000842589"	"0"	"70"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.73C>T, p.R25W"	"heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61951879C>T"	""	"likely pathogenic"	""
"0000842590"	"0"	"70"	"11"	"61719408"	"61719408"	"subst"	"0"	"00000"	"BEST1_000392"	"g.61719408T>C"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.130T>C, p.Y44H"	"heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61951936T>C"	""	"likely pathogenic"	""
"0000842591"	"0"	"70"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.73C>T, p.R25W"	"heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61951879C>T"	""	"likely pathogenic"	""
"0000842592"	"0"	"70"	"11"	"61722646"	"61722646"	"subst"	"0"	"00000"	"BEST1_000399"	"g.61722646C>T"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.220C>T, p.Q74X"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955174C>T"	""	"likely pathogenic"	""
"0000842593"	"0"	"70"	"11"	"61725666"	"61725666"	"subst"	"5.27893E-5"	"00000"	"BEST1_000063"	"g.61725666C>T"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.763C>T, p.R255W"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958194C>T"	""	"likely pathogenic"	""
"0000842594"	"0"	"70"	"11"	"61725666"	"61725666"	"subst"	"5.27893E-5"	"00000"	"BEST1_000063"	"g.61725666C>T"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.763C>T, p.R255W"	"autosomal recessive bestrophinopathy phenotype, no second allele variant found; heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61958194C>T"	""	"likely pathogenic"	""
"0000842595"	"0"	"70"	"11"	"61723295"	"61723304"	"dup"	"0"	"00000"	"BEST1_000414"	"g.61723295_61723304dup"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.353_362dup, p.L123Afs*112"	"autosomal recessive bestrophinopathy phenotype, no second allele variant found; heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61955823_61955832dup"	""	"likely pathogenic"	""
"0000842596"	"0"	"70"	"11"	"61719381"	"61719381"	"subst"	"0"	"00000"	"BEST1_000132"	"g.61719381G>A"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.103G>A, p.E35K"	"autosomal recessive bestrophinopathy phenotype, no second allele variant found; heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61951909G>A"	""	"likely pathogenic"	""
"0000842597"	"0"	"70"	"11"	"61725666"	"61725666"	"subst"	"5.27893E-5"	"00000"	"BEST1_000063"	"g.61725666C>T"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.763C>T, p.R255W"	"autosomal recessive bestrophinopathy phenotype, no second allele variant found; heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61958194C>T"	""	"likely pathogenic"	""
"0000842598"	"0"	"70"	"11"	"61719397"	"61719397"	"subst"	"0"	"00000"	"BEST1_000358"	"g.61719397T>C"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.119T>C, p.L40P"	"autosomal recessive bestrophinopathy phenotype, no second allele variant found; heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61951925T>C"	""	"likely pathogenic"	""
"0000842599"	"0"	"70"	"11"	"61723237"	"61723237"	"subst"	"0"	"00000"	"BEST1_000224"	"g.61723237A>G"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.295A>G, p.N99D"	"autosomal recessive bestrophinopathy phenotype, no second allele variant found; heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61955765A>G"	""	"likely pathogenic"	""
"0000842600"	"0"	"70"	"11"	"61725733"	"61725733"	"subst"	"8.1215E-6"	"00000"	"BEST1_000165"	"g.61725733C>T"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.830C>T, p.T277M"	"heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61958261C>T"	""	"likely pathogenic"	""
"0000842601"	"0"	"70"	"11"	"61723285"	"61723285"	"subst"	"0"	"00000"	"BEST1_000412"	"g.61723285G>T"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.343G>T, p.E115X"	"heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61955813G>T"	""	"likely pathogenic"	""
"0000842602"	"0"	"70"	"11"	"61727479"	"61727479"	"subst"	"8.32653E-5"	"00000"	"BEST1_000441"	"g.61727479G>A"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.1064G>A, p.R355H"	"heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61960007G>A"	""	"likely pathogenic"	""
"0000842603"	"0"	"70"	"11"	"61725666"	"61725666"	"subst"	"5.27893E-5"	"00000"	"BEST1_000063"	"g.61725666C>T"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.763C>T, p.R255W"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958194C>T"	""	"likely pathogenic"	""
"0000842604"	"0"	"70"	"11"	"61725666"	"61725666"	"subst"	"5.27893E-5"	"00000"	"BEST1_000063"	"g.61725666C>T"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.763C>T, p.R255W"	"heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61958194C>T"	""	"likely pathogenic"	""
"0000842605"	"0"	"70"	"11"	"61725666"	"61725666"	"subst"	"5.27893E-5"	"00000"	"BEST1_000063"	"g.61725666C>T"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.763C>T, p.R255W"	"heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61958194C>T"	""	"likely pathogenic"	""
"0000842606"	"0"	"70"	"11"	"61726989"	"61726989"	"subst"	"0"	"00000"	"BEST1_000109"	"g.61726989A>G"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.887A>G, p.N296S"	"heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61959517A>G"	""	"likely pathogenic"	""
"0000842607"	"0"	"70"	"11"	"61725666"	"61725666"	"subst"	"0"	"00000"	"BEST1_000429"	"g.61725666C>A"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.763C>A, p.R255R"	"heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61958194C>A"	""	"likely pathogenic"	""
"0000842608"	"0"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.584C>T, p.A195V"	"heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic"	""
"0000842609"	"0"	"70"	"11"	"61731618"	"61731618"	"subst"	"0.00022009"	"00000"	"BEST1_000379"	"g.61731618C>T"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.*24C>T, p.(?)"	"heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61964146C>T"	""	"likely pathogenic"	""
"0000842610"	"0"	"70"	"11"	"61725666"	"61725666"	"subst"	"5.27893E-5"	"00000"	"BEST1_000063"	"g.61725666C>T"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.763C>T, p.R255W"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958194C>T"	""	"likely pathogenic"	""
"0000842611"	"0"	"70"	"11"	"61725763"	"61725763"	"subst"	"1.21838E-5"	"00000"	"BEST1_000054"	"g.61725763G>A"	""	"{PMID:Tian 2014:25489231}"	""	"BEST1 c.860G>A, p.W287X"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958291G>A"	""	"likely pathogenic"	""
"0000842612"	"0"	"70"	"11"	"61723234"	"61723234"	"subst"	"0"	"00000"	"BEST1_000071"	"g.61723234G>A"	""	"{PMID:Lin 2017:28791410}"	""	"BEST1 c.292G>A (p.Glu98Lys)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955762G>A"	""	"likely pathogenic"	""
"0000842613"	"0"	"30"	"11"	"61730234"	"61730234"	"subst"	"0.459148"	"00000"	"BEST1_000041"	"g.61730234T>C"	""	"{PMID:Lin 2017:28791410}"	""	"BEST1 c.1608T>C (p.Thr536Thr)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61962762T>C"	""	"likely benign"	""
"0000842614"	"20"	"70"	"11"	"61722664"	"61722664"	"subst"	"0"	"00000"	"BEST1_000378"	"g.61722664T>A"	""	"{PMID:Gattoussi 2020:28806213}"	""	"BEST1 c.292G>A (p.Glu98Lys)"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.61955192T>A"	""	"likely pathogenic"	""
"0000842615"	"20"	"70"	"11"	"61719391"	"61719391"	"subst"	"0"	"00000"	"BEST1_000195"	"g.61719391T>G"	""	"{PMID:Jun 2017:28831140}"	""	"BEST1 c.T113G (p.Ile38Ser)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951919T>G"	""	"likely pathogenic"	""
"0000842617"	"0"	"70"	"11"	"61719351"	"61719351"	"subst"	"4.11039E-6"	"00000"	"BEST1_000007"	"g.61719351C>T"	""	"{PMID:Khan 2018:28590961}"	""	"BEST1 p.Arg25Trp"	"no nucleotide written, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951879C>T"	""	"likely pathogenic"	""
"0000842618"	"0"	"70"	"11"	"61719368"	"61719368"	"subst"	"0"	"00000"	"BEST1_000390"	"g.61719368G>C"	""	"{PMID:Khan 2018:28590961}"	""	"BEST1 p.Lys30Asn"	"no nucleotide written, extrapolated from protein and databases; could also be c.90G>T; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951896G>C"	""	"likely pathogenic"	""
"0000842619"	"3"	"70"	"11"	"61719417"	"61719417"	"subst"	"1.62596E-5"	"00000"	"BEST1_000329"	"g.61719417C>T"	""	"{PMID:Khan 2018:28590961}"	""	"BEST1 p.Arg47Cys (homozygous)"	"no nucleotide written, extrapolated from protein and databases; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951945C>T"	""	"likely pathogenic"	""
"0000842620"	"0"	"70"	"11"	"61723195"	"61723195"	"subst"	"0"	"00000"	"BEST1_000186"	"g.61723195T>C"	""	"{PMID:Khan 2018:28590961}"	""	"BEST1 p.Tyr85His"	"no nucleotide written, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955723T>C"	""	"likely pathogenic"	""
"0000842621"	"0"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Khan 2018:28590961}"	""	"BEST1 p.Ala243Val"	"no nucleotide written, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958159C>T"	""	"likely pathogenic"	""
"0000842625"	"0"	"70"	"11"	"61727005"	"61727005"	"subst"	"0"	"00000"	"BEST1_000127"	"g.61727005T>G"	""	"{PMID:Lin 2018:29115605}"	""	"BEST1 c.903T>G (p.D301E)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959533T>G"	""	"likely pathogenic"	""
"0000842626"	"0"	"30"	"11"	"61730234"	"61730234"	"subst"	"0.459148"	"00000"	"BEST1_000041"	"g.61730234T>C"	""	"{PMID:Lin 2018:29115605}"	""	"BEST1 c.1608C>T (p.T536T)"	"error in annotation, the change is actually T>C; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61962762T>C"	""	"likely benign"	""
"0000842628"	"0"	"70"	"11"	"61729891"	"61733239"	"del"	"0"	"00000"	"BEST1_000444"	"g.61729891_61733239del"	""	"{PMID:Dalvin 2016:29503890}"	""	"BEST1 deletion of 9348 bases (61729891e61733239), H422fsX431"	"9348 bp deletion"	"De novo"	""	""	"0"	""	""	"g.61962419_61965767del"	""	"likely pathogenic"	""
"0000842631"	"0"	"70"	"11"	"61723190"	"61723190"	"subst"	"0"	"00000"	"BEST1_000360"	"g.61723190G>A"	""	"{PMID:Goldberg 2018:29774302}"	""	"BEST1 c.248G>A (p.Gly83Asp)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955718G>A"	""	"likely pathogenic"	""
"0000842664"	"0"	"70"	"11"	"61727000"	"61727000"	"subst"	"0"	"00000"	"BEST1_000142"	"g.61727000G>A"	""	"{PMID:Guo 2018:29781975}"	""	"BEST1 c.898G>A [p.Glu300Lys]"	"heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61959528G>A"	""	"likely pathogenic"	""
"0000842665"	"0"	"70"	"11"	"61719336"	"61719336"	"subst"	"0"	"00000"	"BEST1_000199"	"g.61719336C>G"	""	"{PMID:Guo 2018:29781975}"	""	"BEST1 c.58C>G [p.Leu20Val]"	"heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61951864C>G"	""	"likely pathogenic"	""
"0000842666"	"0"	"70"	"11"	"61727022"	"61727022"	"subst"	"0"	"00000"	"BEST1_000374"	"g.61727022C>A"	""	"{PMID:Guo 2018:29781975}"	""	"BEST1 c.920C.A [p.Thr307Asn]"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959550C>A"	""	"likely pathogenic"	""
"0000842667"	"0"	"70"	"11"	"61727022"	"61727022"	"subst"	"0"	"00000"	"BEST1_000374"	"g.61727022C>A"	""	"{PMID:Guo 2018:29781975}"	""	"BEST1 c.920C.A [p.Thr307Asn]"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959550C>A"	""	"likely pathogenic"	""
"0000842668"	"0"	"70"	"11"	"61726986"	"61726986"	"subst"	"0"	"00000"	"BEST1_000191"	"g.61726986T>C"	""	"{PMID:Guo 2018:29781975}"	""	"BEST1 c.884T.C [p.Ile295The]"	"heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61959514T>C"	""	"likely pathogenic"	""
"0000842669"	"21"	"70"	"11"	"61722650"	"61722650"	"subst"	"0"	"00000"	"BEST1_000400"	"g.61722650T>C"	""	"{PMID:Guo 2018:29781975}"	""	"BEST1 c.224T.C [p.Leu75Pro]"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955178T>C"	""	"likely pathogenic"	""
"0000842670"	"0"	"70"	"11"	"61722650"	"61722650"	"subst"	"0"	"00000"	"BEST1_000400"	"g.61722650T>C"	""	"{PMID:Guo 2018:29781975}"	""	"BEST1 c.224T.C [p.Leu75Pro]"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955178T>C"	""	"likely pathogenic"	""
"0000842671"	"0"	"70"	"11"	"61722650"	"61722650"	"subst"	"0"	"00000"	"BEST1_000400"	"g.61722650T>C"	""	"{PMID:Guo 2018:29781975}"	""	"BEST1 c.224T.C [p.Leu75Pro]"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955178T>C"	""	"likely pathogenic"	""
"0000842672"	"21"	"70"	"11"	"61722650"	"61722650"	"subst"	"0"	"00000"	"BEST1_000400"	"g.61722650T>C"	""	"{PMID:Guo 2018:29781975}"	""	"BEST1 c.224T.C [p.Leu75Pro]"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955178T>C"	""	"likely pathogenic"	""
"0000842673"	"21"	"70"	"11"	"61722650"	"61722650"	"subst"	"0"	"00000"	"BEST1_000400"	"g.61722650T>C"	""	"{PMID:Guo 2018:29781975}"	""	"BEST1 c.224T.C [p.Leu75Pro]"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955178T>C"	""	"likely pathogenic"	""
"0000842674"	"0"	"70"	"11"	"61719283"	"61719283"	"subst"	"0"	"00000"	"BEST1_000381"	"g.61719283C>G"	""	"{PMID:Guo 2018:29781975}"	""	"BEST1 c.5C.G [p.Thr2Ser]"	"heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61951811C>G"	""	"likely pathogenic"	""
"0000842675"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Guo 2018:29781975}"	""	"BEST1 c.652C>T [p.Arg218Cys]"	"heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000842676"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Guo 2018:29781975}"	""	"BEST1 c.652C>T [p.Arg218Cys]"	"heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000842677"	"0"	"70"	"11"	"61722667"	"61722667"	"subst"	"0"	"00000"	"BEST1_000407"	"g.61722667G>T"	""	"{PMID:Guo 2018:29781975}"	""	"BEST1 c.241G.T [p.Val81Leu]"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955195G>T"	""	"likely pathogenic"	""
"0000842678"	"0"	"70"	"11"	"61722662"	"61722662"	"subst"	"0"	"00000"	"BEST1_000406"	"g.61722662C>A"	""	"{PMID:Guo 2018:29781975}"	""	"BEST1 c.236C.A [p.Ser79Tyr]"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955190C>A"	""	"likely pathogenic"	""
"0000842679"	"0"	"70"	"11"	"61723288"	"61723297"	"dup"	"0"	"00000"	"BEST1_000413"	"g.61723288_61723297dup"	""	"{PMID:Guo 2018:29781975}"	""	"BEST1 c.345_346ins GGCAAGGACG [p.Glu115-GlufsX120]"	"error in annotation, most 3\' location should be used: p.(Glu119Glyfs*116); heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61955816_61955825dup"	""	"likely pathogenic"	""
"0000842680"	"0"	"70"	"11"	"61727005"	"61727005"	"subst"	"0"	"00000"	"BEST1_000127"	"g.61727005T>G"	""	"{PMID:Gutiérrez-Montero 2018:29853419"	""	"BEST1 c.903T>G (p.Asp301Glu)"	"heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61959533T>G"	""	"likely pathogenic"	""
"0000842681"	"11"	"70"	"11"	"61727005"	"61727005"	"subst"	"0"	"00000"	"BEST1_000127"	"g.61727005T>G"	""	"{PMID:Gutiérrez-Montero 2018:29853419"	""	"BEST1 c.903T>G (p.Asp301Glu)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959533T>G"	""	"likely pathogenic"	""
"0000842741"	"3"	"70"	"11"	"61723334"	"61723334"	"subst"	"0"	"00000"	"BEST1_000416"	"g.61723334A>G"	""	"{PMID:Nguyen 2018:29976937}"	""	"BEST1 c.392 A>G, p.Tyr131Cys"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955862A>G"	""	"likely pathogenic"	""
"0000842742"	"3"	"70"	"11"	"61723334"	"61723334"	"subst"	"0"	"00000"	"BEST1_000416"	"g.61723334A>G"	""	"{PMID:Nguyen 2018:29976937}"	""	"BEST1 c.392 A>G, p.Tyr131Cys"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955862A>G"	""	"likely pathogenic"	""
"0000842743"	"3"	"70"	"11"	"61723391"	"61723391"	"subst"	"1.42391E-5"	"00000"	"BEST1_000073"	"g.61723391G>C"	""	"{PMID:Nguyen 2018:29976937}"	""	"BEST1 c.449 G>C, p.Arg150Pro"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955919G>C"	""	"likely pathogenic"	""
"0000842744"	"1"	"70"	"11"	"61719418"	"61719418"	"subst"	"1.62631E-5"	"00000"	"BEST1_000196"	"g.61719418G>A"	""	"{PMID:Nguyen 2018:29976937}"	""	"BEST1 c.140 G>A, p.Arg47His"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951946G>A"	""	"likely pathogenic"	""
"0000842745"	"1"	"70"	"11"	"61719418"	"61719418"	"subst"	"1.62631E-5"	"00000"	"BEST1_000196"	"g.61719418G>A"	""	"{PMID:Nguyen 2018:29976937}"	""	"BEST1 c.140 G>A, p.Arg47His"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951946G>A"	""	"likely pathogenic"	""
"0000842746"	"1"	"70"	"11"	"61719418"	"61719418"	"subst"	"1.62631E-5"	"00000"	"BEST1_000196"	"g.61719418G>A"	""	"{PMID:Nguyen 2018:29976937}"	""	"BEST1 c.140 G>A, p.Arg47His"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951946G>A"	""	"likely pathogenic"	""
"0000842747"	"1"	"70"	"11"	"61719418"	"61719418"	"subst"	"1.62631E-5"	"00000"	"BEST1_000196"	"g.61719418G>A"	""	"{PMID:Nguyen 2018:29976937}"	""	"BEST1 c.140 G>A, p.Arg47His"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951946G>A"	""	"likely pathogenic"	""
"0000842748"	"10"	"70"	"11"	"61723214"	"61723214"	"subst"	"0"	"00000"	"BEST1_000257"	"g.61723214C>T"	""	"{PMID:Nguyen 2018:29976937}"	""	"BEST1 p.Thr91Ile"	"no nucleotide annotation; extrapolated from protein; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955742C>T"	""	"likely pathogenic"	""
"0000842749"	"0"	"70"	"11"	"61723214"	"61723214"	"subst"	"0"	"00000"	"BEST1_000257"	"g.61723214C>T"	""	"{PMID:Nguyen 2018:29976937}"	""	"BEST1 p.Thr91Ile"	"no nucleotide annotation; extrapolated from protein; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955742C>T"	""	"likely pathogenic"	""
"0000842750"	"10"	"70"	"11"	"61723214"	"61723214"	"subst"	"0"	"00000"	"BEST1_000257"	"g.61723214C>T"	""	"{PMID:Nguyen 2018:29976937}"	""	"BEST1 p.Thr91Ile"	"no nucleotide annotation; extrapolated from protein; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955742C>T"	""	"likely pathogenic"	""
"0000842751"	"2"	"70"	"11"	"61725726"	"61725726"	"subst"	"5.68505E-5"	"00000"	"BEST1_000280"	"g.61725726G>A"	""	"{PMID:Nguyen 2018:29976937}"	""	"BEST1 c.823G>A, p.(Val275Ile)"	"different transcript and error in annotation by 1 amino acid: Val is at position 215 and not 216, and nucleotide is NM_001139443.1(BEST1):c.643G>A; in transcript NM_004183.4(BEST1):c.823G>A, p.(Val275Ile); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958254G>A"	""	"likely pathogenic"	""
"0000842752"	"2"	"70"	"11"	"61725726"	"61725726"	"subst"	"5.68505E-5"	"00000"	"BEST1_000280"	"g.61725726G>A"	""	"{PMID:Nguyen 2018:29976937}"	""	"BEST1 c.823G>A, p.(Val275Ile)"	"different transcript and error in annotation by 1 amino acid: Val is at position 215 and not 216, and nucleotide is NM_001139443.1(BEST1):c.643G>A; in transcript NM_004183.4(BEST1):c.823G>A, p.(Val275Ile); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958254G>A"	""	"likely pathogenic"	""
"0000842753"	"2"	"70"	"11"	"61725726"	"61725726"	"subst"	"5.68505E-5"	"00000"	"BEST1_000280"	"g.61725726G>A"	""	"{PMID:Nguyen 2018:29976937}"	""	"BEST1 c.823G>A, p.(Val275Ile)"	"different transcript and error in annotation by 1 amino acid: Val is at position 215 and not 216, and nucleotide is NM_001139443.1(BEST1):c.643G>A; in transcript NM_004183.4(BEST1):c.823G>A, p.(Val275Ile); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958254G>A"	""	"likely pathogenic"	""
"0000842754"	"2"	"70"	"11"	"61725726"	"61725726"	"subst"	"5.68505E-5"	"00000"	"BEST1_000280"	"g.61725726G>A"	""	"{PMID:Nguyen 2018:29976937}"	""	"BEST1 c.823G>A, p.(Val275Ile)"	"different transcript and error in annotation by 1 amino acid: Val is at position 215 and not 216, and nucleotide is NM_001139443.1(BEST1):c.643G>A; in transcript NM_004183.4(BEST1):c.823G>A, p.(Val275Ile); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958254G>A"	""	"likely pathogenic"	""
"0000842755"	"10"	"70"	"11"	"61730338"	"61730338"	"subst"	"1.62425E-5"	"00000"	"BEST1_000380"	"g.61730338T>C"	""	"{PMID:Mano 2018:30222024}, {PMID:Weisschuh 2019:30632872}"	""	"BEST1 p.Met571Thr"	"heterozygous; Weisschuh (2019) doubts that this case is solved with BEST1 variant"	"Unknown"	"?"	""	"0"	""	""	"g.61962866T>C"	""	"VUS (!)"	""
"0000842842"	"10"	"70"	"11"	"61724887"	"61724887"	"subst"	"0"	"00000"	"BEST1_000106"	"g.61724887G>T"	"0"	"{PMID:Gao 2018:30498755}"	""	"BEST1 c.665G>T, G222V"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957415G>T"	""	"likely pathogenic"	""
"0000842843"	"0"	"70"	"11"	"61725666"	"61725666"	"subst"	"5.27893E-5"	"00000"	"BEST1_000063"	"g.61725666C>T"	"0"	"{PMID:Gao 2018:30498755}"	""	"BEST1 c.763C>T, R255W"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958194C>T"	""	"likely pathogenic"	""
"0000842844"	"0"	"70"	"11"	"61723366"	"61723366"	"subst"	"0"	"00000"	"BEST1_000421"	"g.61723366A>G"	"0"	"{PMID:Gao 2018:30498755}"	""	"BEST1 c.424A>G, S142G"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955894A>G"	""	"likely pathogenic"	""
"0000842845"	"0"	"70"	"11"	"61727005"	"61727005"	"subst"	"0"	"00000"	"BEST1_000127"	"g.61727005T>G"	"0"	"{PMID:Gao 2018:30498755}"	""	"BEST1 c.903T>G, D301E"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959533T>G"	""	"likely pathogenic"	""
"0000842846"	"21"	"70"	"11"	"61723378"	"61723378"	"subst"	"0"	"00000"	"BEST1_000423"	"g.61723378G>A"	"0"	"{PMID:Gao 2018:30498755}"	""	"BEST1 c.436G>A, A146T"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955906G>A"	""	"likely pathogenic"	""
"0000842847"	"0"	"70"	"11"	"61723369"	"61723369"	"subst"	"0"	"00000"	"BEST1_000422"	"g.61723369G>T"	"0"	"{PMID:Gao 2018:30498755}"	""	"BEST1 c.427G>T, V143F"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955897G>T"	""	"likely pathogenic"	""
"0000842848"	"11"	"70"	"11"	"61724322"	"61724322"	"subst"	"0"	"00000"	"BEST1_000363"	"g.61724322T>G"	"0"	"{PMID:Gao 2018:30498755}"	""	"BEST1 c.488T>G, M163R"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956850T>G"	""	"likely pathogenic"	""
"0000842849"	"0"	"70"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	"0"	"{PMID:Gao 2018:30498755}"	""	"BEST1 c.653G>A, R218H"	"heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61957403G>A"	""	"likely pathogenic"	""
"0000842850"	"11"	"70"	"11"	"61723216"	"61723216"	"subst"	"0"	"00000"	"BEST1_000258"	"g.61723216C>T"	"0"	"{PMID:Gao 2018:30498755}"	""	"BEST1 c.274C>T, R92C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955744C>T"	""	"likely pathogenic"	""
"0000842851"	"0"	"70"	"11"	"61723369"	"61723369"	"subst"	"0"	"00000"	"BEST1_000422"	"g.61723369G>T"	"0"	"{PMID:Gao 2018:30498755}"	""	"BEST1 c.427G>T, V143F"	"heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.61955897G>T"	""	"likely pathogenic"	""
"0000842852"	"11"	"70"	"11"	"61719380"	"61719380"	"subst"	"1.62715E-5"	"00000"	"BEST1_000131"	"g.61719380C>T"	"0"	"{PMID:Gao 2018:30498755}"	""	"BEST1 c.102C>T, G34G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951908C>T"	""	"likely pathogenic"	""
"0000842853"	"21"	"70"	"11"	"61719316"	"61719316"	"subst"	"1.21997E-5"	"00000"	"BEST1_000246"	"g.61719316G>A"	"0"	"{PMID:Gao 2018:30498755}"	""	"BEST1 c.38G>A, R13H"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951844G>A"	""	"likely pathogenic"	""
"0000842854"	"0"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	"0"	"{PMID:Gao 2018:30498755}"	""	"BEST1 c.584C>T, A195V"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic"	""
"0000842855"	"11"	"70"	"11"	"61719418"	"61719418"	"subst"	"1.62631E-5"	"00000"	"BEST1_000196"	"g.61719418G>A"	"0"	"{PMID:Gao 2018:30498755}"	""	"BEST1 c.140G>A, R47H"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951946G>A"	""	"likely pathogenic"	""
"0000842856"	"11"	"50"	"11"	"61731618"	"61731618"	"subst"	"0.00022009"	"00000"	"BEST1_000379"	"g.61731618C>T"	"0"	"{PMID:Gao 2018:30498755}"	""	"BEST1 c.?24C>T, -"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61964146C>T"	""	"VUS"	""
"0000842857"	"21"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	"0"	"{PMID:Gao 2018:30498755}"	""	"BEST1 c.584C>T, A195V"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic"	""
"0000842858"	"21"	"70"	"11"	"61722581"	"61722581"	"subst"	"0"	"00000"	"BEST1_000394"	"g.61722581T>C"	"0"	"{PMID:Gao 2018:30498755}"	""	"BEST1 c.155T>C, L52P"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955109T>C"	""	"likely pathogenic"	""
"0000842859"	"11"	"70"	"11"	"61724902"	"61724902"	"subst"	"0"	"00000"	"BEST1_000136"	"g.61724902A>G"	"0"	"{PMID:Taylor 2018:30582078}"	""	"BEST1 Tyr227Cys"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957430A>G"	""	"likely pathogenic"	""
"0000842860"	"21"	"70"	"11"	"61724432"	"61724432"	"subst"	"1.21878E-5"	"00000"	"BEST1_000311"	"g.61724432C>T"	"0"	"{PMID:Luo 2018:30593719}"	""	"BEST1 c.598C>T (p.R200X)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956960C>T"	""	"likely pathogenic"	""
"0000842861"	"21"	"70"	"11"	"61724432"	"61724432"	"subst"	"1.21878E-5"	"00000"	"BEST1_000311"	"g.61724432C>T"	"0"	"{PMID:Luo 2018:30593719}"	""	"BEST1 c.598C>T (p.R200X)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956960C>T"	""	"likely pathogenic"	""
"0000842862"	"10"	"70"	"11"	"61724334"	"61724334"	"subst"	"0"	"00000"	"BEST1_000364"	"g.61724334A>G"	"0"	"{PMID:Luo 2018:30593719}"	""	"BEST1 c.500A>G (p.E167G)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956862A>G"	""	"likely pathogenic"	""
"0000842863"	"0"	"70"	"11"	"61723322"	"61723322"	"subst"	"0"	"00000"	"BEST1_000415"	"g.61723322C>T"	"0"	"{PMID:Luo 2018:30593719}"	""	"BEST1 c.380C>T (p.T127M)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955850C>T"	""	"likely pathogenic"	""
"0000842864"	"0"	"70"	"11"	"61725720"	"61725720"	"subst"	"4.06058E-6"	"00000"	"BEST1_000431"	"g.61725720G>A"	"0"	"{PMID:Luo 2018:30593719}"	""	"BEST1 c.817G>A (p.V273M)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958248G>A"	""	"likely pathogenic"	""
"0000842865"	"10"	"70"	"11"	"61727481"	"61727481"	"subst"	"4.16691E-6"	"00000"	"BEST1_000144"	"g.61727481C>T"	"0"	"{PMID:Luo 2018:30593719}"	""	"BEST1 c.1066C>T (p.R356X)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61960009C>T"	""	"likely pathogenic"	""
"0000842866"	"10"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	"0"	"{PMID:Luo 2018:30593719}"	""	"BEST1 c.584C>T (p.A195V)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic"	""
"0000842867"	"0"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	"0"	"{PMID:Luo 2018:30593719}"	""	"BEST1 c.584C>T (p.A195V)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic"	""
"0000842868"	"3"	"70"	"11"	"61725666"	"61725666"	"subst"	"5.27893E-5"	"00000"	"BEST1_000063"	"g.61725666C>T"	"0"	"{PMID:Luo 2018:30593719}"	""	"BEST1 c.763C>T (p.R255W)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958194C>T"	""	"likely pathogenic"	""
"0000842869"	"3"	"70"	"11"	"61725666"	"61725666"	"subst"	"5.27893E-5"	"00000"	"BEST1_000063"	"g.61725666C>T"	"0"	"{PMID:Luo 2018:30593719}"	""	"BEST1 c.763C>T (p.R255W)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958194C>T"	""	"likely pathogenic"	""
"0000842870"	"3"	"70"	"11"	"61725666"	"61725666"	"subst"	"5.27893E-5"	"00000"	"BEST1_000063"	"g.61725666C>T"	"0"	"{PMID:Luo 2018:30593719}"	""	"BEST1 c.763C>T (p.R255W)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958194C>T"	""	"likely pathogenic"	""
"0000842871"	"3"	"70"	"11"	"61725666"	"61725666"	"subst"	"5.27893E-5"	"00000"	"BEST1_000063"	"g.61725666C>T"	"0"	"{PMID:Luo 2018:30593719}"	""	"BEST1 c.763C>T (p.R255W)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958194C>T"	""	"likely pathogenic"	""
"0000842872"	"3"	"70"	"11"	"61725666"	"61725666"	"subst"	"5.27893E-5"	"00000"	"BEST1_000063"	"g.61725666C>T"	"0"	"{PMID:Luo 2018:30593719}"	""	"BEST1 c.763C>T (p.R255W)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958194C>T"	""	"likely pathogenic"	""
"0000842873"	"0"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	"0"	"{PMID:Luo 2018:30593719}"	""	"BEST1 c.584C>T (p.A195V)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic"	""
"0000842874"	"1"	"70"	"11"	"61725666"	"61725666"	"subst"	"5.27893E-5"	"00000"	"BEST1_000063"	"g.61725666C>T"	"0"	"{PMID:Luo 2018:30593719}"	""	"BEST1 c.763C>T (p.R255W)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958194C>T"	""	"likely pathogenic"	""
"0000842875"	"1"	"70"	"11"	"61725666"	"61725666"	"subst"	"5.27893E-5"	"00000"	"BEST1_000063"	"g.61725666C>T"	"0"	"{PMID:Luo 2018:30593719}"	""	"BEST1 c.763C>T (p.R255W)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958194C>T"	""	"likely pathogenic"	""
"0000842876"	"21"	"70"	"11"	"61723339"	"61723339"	"subst"	"0"	"00000"	"BEST1_000417"	"g.61723339A>G"	"0"	"{PMID:Luo 2018:30593719}"	""	"BEST1 c.397A>G (p.N133D)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955867A>G"	""	"likely pathogenic"	""
"0000842877"	"0"	"70"	"11"	"61722600"	"61722602"	"del"	"0"	"00000"	"BEST1_000395"	"g.61722600_61722602del"	"0"	"{PMID:Luo 2018:30593719}"	""	"BEST1 c.174_176del  (p.Q158del)"	"error in annotation, probably Q at position 58 and not 158 was meant; most 3\' amino acide rule requires the deletion to be annotated as p.(Gln59del); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955128_61955130del"	""	"likely pathogenic"	""
"0000842878"	"1"	"70"	"11"	"61725733"	"61725733"	"subst"	"8.1215E-6"	"00000"	"BEST1_000165"	"g.61725733C>T"	"0"	"{PMID:Luo 2018:30593719}"	""	"BEST1 c.830C>T (p.T277M)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958261C>T"	""	"likely pathogenic"	""
"0000842879"	"21"	"70"	"11"	"61725666"	"61725666"	"subst"	"5.27893E-5"	"00000"	"BEST1_000063"	"g.61725666C>T"	"0"	"{PMID:Luo 2018:30593719}"	""	"BEST1 c.763C>T (p.R255W)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958194C>T"	""	"likely pathogenic"	""
"0000842880"	"21"	"70"	"11"	"61725666"	"61725666"	"subst"	"5.27893E-5"	"00000"	"BEST1_000063"	"g.61725666C>T"	"0"	"{PMID:Luo 2018:30593719}"	""	"BEST1 c.763C>T (p.R255W)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958194C>T"	""	"likely pathogenic"	""
"0000842881"	"10"	"70"	"11"	"61725666"	"61725666"	"subst"	"5.27893E-5"	"00000"	"BEST1_000063"	"g.61725666C>T"	"0"	"{PMID:Luo 2018:30593719}"	""	"BEST1 c.763C>T (p.R255W)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958194C>T"	""	"likely pathogenic"	""
"0000842882"	"10"	"70"	"11"	"61725666"	"61725666"	"subst"	"5.27893E-5"	"00000"	"BEST1_000063"	"g.61725666C>T"	"0"	"{PMID:Luo 2018:30593719}"	""	"BEST1 c.763C>T (p.R255W)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958194C>T"	""	"likely pathogenic"	""
"0000842883"	"21"	"70"	"11"	"61725666"	"61725666"	"subst"	"5.27893E-5"	"00000"	"BEST1_000063"	"g.61725666C>T"	"0"	"{PMID:Luo 2018:30593719}"	""	"BEST1 c.763C>T (p.R255W)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958194C>T"	""	"likely pathogenic"	""
"0000842884"	"0"	"70"	"11"	"61725666"	"61725666"	"subst"	"5.27893E-5"	"00000"	"BEST1_000063"	"g.61725666C>T"	"0"	"{PMID:Luo 2018:30593719}"	""	"BEST1 c.763C>T (p.R255W)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958194C>T"	""	"likely pathogenic"	""
"0000842885"	"0"	"70"	"11"	"61725666"	"61725666"	"subst"	"5.27893E-5"	"00000"	"BEST1_000063"	"g.61725666C>T"	"0"	"{PMID:Luo 2018:30593719}"	""	"BEST1 c.763C>T (p.R255W)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958194C>T"	""	"likely pathogenic"	""
"0000842886"	"21"	"70"	"11"	"61725666"	"61725666"	"subst"	"5.27893E-5"	"00000"	"BEST1_000063"	"g.61725666C>T"	"0"	"{PMID:Luo 2018:30593719}"	""	"BEST1 c.763C>T (p.R255W)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958194C>T"	""	"likely pathogenic"	""
"0000842887"	"21"	"70"	"11"	"61725666"	"61725666"	"subst"	"5.27893E-5"	"00000"	"BEST1_000063"	"g.61725666C>T"	"0"	"{PMID:Luo 2018:30593719}"	""	"BEST1 c.763C>T (p.R255W)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958194C>T"	""	"likely pathogenic"	""
"0000842888"	"0"	"70"	"11"	"61725666"	"61725666"	"subst"	"5.27893E-5"	"00000"	"BEST1_000063"	"g.61725666C>T"	"0"	"{PMID:Luo 2018:30593719}"	""	"BEST1 c.763C>T (p.R255W)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958194C>T"	""	"likely pathogenic"	""
"0000842889"	"0"	"70"	"11"	"61727368"	"61727373"	"del"	"0"	"00000"	"BEST1_000439"	"g.61727368_61727373del"	"0"	"{PMID:Luo 2018:30593719}"	""	"BEST1 c.950_955del  (p.S318_L319)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959896_61959901del"	""	"likely pathogenic"	""
"0000842890"	"2"	"70"	"11"	"61727368"	"61727373"	"del"	"0"	"00000"	"BEST1_000439"	"g.61727368_61727373del"	"0"	"{PMID:Luo 2018:30593719}"	""	"BEST1 c.950_955del (p.S318_L319)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959896_61959901del"	""	"likely pathogenic"	""
"0000842891"	"2"	"70"	"11"	"61727368"	"61727373"	"del"	"0"	"00000"	"BEST1_000439"	"g.61727368_61727373del"	"0"	"{PMID:Luo 2018:30593719}"	""	"BEST1 c.950_955del (p.S318_L319)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959896_61959901del"	""	"likely pathogenic"	""
"0000842892"	"11"	"70"	"11"	"61725666"	"61725666"	"subst"	"5.27893E-5"	"00000"	"BEST1_000063"	"g.61725666C>T"	"0"	"{PMID:Luo 2018:30593719}"	""	"BEST1 c.763C>T (p.R255W)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958194C>T"	""	"likely pathogenic"	""
"0000842893"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	"0"	"{PMID:Luo 2018:30593719}"	""	"BEST1 c.652C>T (p.R218C)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000842894"	"2"	"70"	"11"	"61725667"	"61725667"	"subst"	"1.62433E-5"	"00000"	"BEST1_000077"	"g.61725667G>A"	"0"	"{PMID:Luo 2018:30593719}"	""	"BEST1 c.764G>A (p.R255Q)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958195G>A"	""	"likely pathogenic"	""
"0000842895"	"11"	"70"	"11"	"61719316"	"61719316"	"subst"	"1.21997E-5"	"00000"	"BEST1_000246"	"g.61719316G>A"	"0"	"{PMID:Luo 2018:30593719}"	""	"BEST1  c.38G>A (p.R13H)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951844G>A"	""	"likely pathogenic"	""
"0000842896"	"11"	"70"	"11"	"61719316"	"61719316"	"subst"	"1.21997E-5"	"00000"	"BEST1_000246"	"g.61719316G>A"	"0"	"{PMID:Luo 2018:30593719}"	""	"BEST1  c.38G>A (p.R13H)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951844G>A"	""	"likely pathogenic"	""
"0000842897"	"0"	"70"	"11"	"61727000"	"61727000"	"subst"	"0"	"00000"	"BEST1_000142"	"g.61727000G>A"	"0"	"{PMID:Deak 2019:29215532}"	""	"BEST1 c.598C>T (p.R200X)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959528G>A"	""	"likely pathogenic"	""
"0000842898"	"0"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	"0"	"{PMID:Deak 2019:29215532}"	""	"BEST1 c.598C>T (p.R200X)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959514_61959516del"	""	"likely pathogenic"	""
"0000842899"	"0"	"70"	"11"	"61727001"	"61727001"	"subst"	"0"	"00000"	"BEST1_000436"	"g.61727001A>C"	"0"	"{PMID:Deak 2019:29215532}"	""	"BEST1 c.598C>T (p.R200X)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959529A>C"	""	"likely pathogenic"	""
"0000842900"	"0"	"70"	"11"	"61727469"	"61727469"	"subst"	"0.000115905"	"00000"	"BEST1_000080"	"g.61727469G>A"	"0"	"{PMID:Deak 2019:29215532}"	""	"BEST1 c.598C>T (p.R200X)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959997G>A"	""	"likely pathogenic"	""
"0000842901"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	"0"	"{PMID:Deak 2019:29215532}"	""	"BEST1 c.598C>T (p.R200X)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000842902"	"0"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	"0"	"{PMID:Deak 2019:29215532}"	""	"BEST1 c.598C>T (p.R200X)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959514_61959516del"	""	"likely pathogenic"	""
"0000842903"	"0"	"70"	"11"	"61723342"	"61723342"	"subst"	"3.4905E-5"	"00000"	"BEST1_000209"	"g.61723342C>G"	"0"	"{PMID:Deak 2019:29215532}"	""	"BEST1 c.598C>T (p.R200X)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955870C>G"	""	"likely pathogenic"	""
"0000842904"	"0"	"70"	"11"	"61726986"	"61726986"	"subst"	"0"	"00000"	"BEST1_000191"	"g.61726986T>C"	"0"	"{PMID:Deak 2019:29215532}"	""	"BEST1 c.598C>T (p.R200X)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959514T>C"	""	"likely pathogenic"	""
"0000842905"	"0"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	"0"	"{PMID:Deak 2019:29215532}"	""	"BEST1 c.598C>T (p.R200X)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959514_61959516del"	""	"likely pathogenic"	""
"0000842906"	"0"	"70"	"11"	"61723216"	"61723216"	"subst"	"0"	"00000"	"BEST1_000258"	"g.61723216C>T"	"0"	"{PMID:Deak 2019:29215532}"	""	"BEST1 c.598C>T (p.R200X)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955744C>T"	""	"likely pathogenic"	""
"0000842907"	"0"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	"0"	"{PMID:Deak 2019:29215532}"	""	"BEST1 c.598C>T (p.R200X)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959514_61959516del"	""	"likely pathogenic"	""
"0000842908"	"0"	"70"	"11"	"61723342"	"61723342"	"subst"	"3.4905E-5"	"00000"	"BEST1_000209"	"g.61723342C>G"	"0"	"{PMID:Deak 2019:29215532}"	""	"BEST1 c.598C>T (p.R200X)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955870C>G"	""	"likely pathogenic"	""
"0000842909"	"0"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	"0"	"{PMID:Deak 2019:29215532}"	""	"BEST1 c.598C>T (p.R200X)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic"	""
"0000842910"	"0"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	"0"	"{PMID:Deak 2019:29215532}"	""	"BEST1 c.598C>T (p.R200X)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959514_61959516del"	""	"likely pathogenic"	""
"0000842911"	"0"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	"0"	"{PMID:Deak 2019:29215532}"	""	"BEST1 c.598C>T (p.R200X)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959514_61959516del"	""	"likely pathogenic"	""
"0000842912"	"0"	"70"	"11"	"61727429"	"61727430"	"delins"	"0"	"00000"	"BEST1_000113"	"g.61727429_61727430delinsCT"	"0"	"{PMID:Deak 2019:29215532}"	""	"BEST1 c.598C>T (p.R200X)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959957_61959958delinsCT"	""	"likely pathogenic"	""
"0000842913"	"21"	"70"	"11"	"61723198"	"61723198"	"subst"	"0"	"00000"	"BEST1_000101"	"g.61723198G>A"	"0"	"{PMID:Boulanger-Scemama 2019:29370033}"	""	"BEST1 c.256G>A, p.Val86Met"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955726G>A"	""	"likely pathogenic"	""
"0000842914"	"21"	"70"	"11"	"61723198"	"61723198"	"subst"	"0"	"00000"	"BEST1_000101"	"g.61723198G>A"	"0"	"{PMID:Boulanger-Scemama 2019:29370033}"	""	"BEST1 c.256G>A, p.Val86Met"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955726G>A"	""	"likely pathogenic"	""
"0000842915"	"21"	"70"	"11"	"61725618"	"61725618"	"subst"	"0"	"00000"	"BEST1_000279"	"g.61725618G>A"	"0"	"{PMID:Boulanger-Scemama 2019:29370033}"	""	"BEST1 c.715G>A, p.Val239Met"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958146G>A"	""	"likely pathogenic"	""
"0000842916"	"21"	"70"	"11"	"61723198"	"61723198"	"subst"	"0"	"00000"	"BEST1_000101"	"g.61723198G>A"	"0"	"{PMID:Boulanger-Scemama 2019:29370033}"	""	"BEST1 c.256G>A, p.Val86Met"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955726G>A"	""	"likely pathogenic"	""
"0000842917"	"21"	"70"	"11"	"61723198"	"61723198"	"subst"	"0"	"00000"	"BEST1_000101"	"g.61723198G>A"	"0"	"{PMID:Boulanger-Scemama 2019:29370033}"	""	"BEST1 c.256G>A, p.Val86Met"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955726G>A"	""	"likely pathogenic"	""
"0000842919"	"0"	"70"	"11"	"61719325"	"61719325"	"subst"	"0"	"00000"	"BEST1_000169"	"g.61719325C>T"	"0"	"{PMID:de Souza 2019:30723549}"	""	"BEST1 c.47C>T"	""	"Germline"	"yes"	""	"0"	""	""	"g.61951853C>T"	""	"likely pathogenic"	""
"0000842920"	"0"	"70"	"11"	"61719325"	"61719325"	"subst"	"0"	"00000"	"BEST1_000169"	"g.61719325C>T"	"0"	"{PMID:de Souza 2019:30723549}"	""	"BEST1 c.47C>T"	""	"Germline"	"yes"	""	"0"	""	""	"g.61951853C>T"	""	"likely pathogenic"	""
"0000842921"	"0"	"70"	"11"	"61719325"	"61719325"	"subst"	"0"	"00000"	"BEST1_000169"	"g.61719325C>T"	"0"	"{PMID:de Souza 2019:30723549}"	""	"BEST1 c.47C>T"	""	"Germline"	"yes"	""	"0"	""	""	"g.61951853C>T"	""	"likely pathogenic"	""
"0000842922"	"0"	"70"	"11"	"61719325"	"61719325"	"subst"	"0"	"00000"	"BEST1_000169"	"g.61719325C>T"	"0"	"{PMID:de Souza 2019:30723549}"	""	"BEST1 c.47C>T"	""	"Germline"	"yes"	""	"0"	""	""	"g.61951853C>T"	""	"likely pathogenic"	""
"0000842923"	"0"	"70"	"11"	"61719325"	"61719325"	"subst"	"0"	"00000"	"BEST1_000169"	"g.61719325C>T"	"0"	"{PMID:de Souza 2019:30723549}"	""	"BEST1 c.47C>T"	""	"Germline"	"yes"	""	"0"	""	""	"g.61951853C>T"	""	"likely pathogenic"	""
"0000842924"	"21"	"70"	"11"	"61719325"	"61719325"	"subst"	"0"	"00000"	"BEST1_000169"	"g.61719325C>T"	"0"	"{PMID:de Souza 2019:30723549}"	""	"BEST1 c.47C>T"	""	"Germline"	"yes"	""	"0"	""	""	"g.61951853C>T"	""	"likely pathogenic"	""
"0000842925"	"21"	"70"	"11"	"61719325"	"61719325"	"subst"	"0"	"00000"	"BEST1_000169"	"g.61719325C>T"	"0"	"{PMID:de Souza 2019:30723549}"	""	"BEST1 c.47C>T"	"no protein annotation given; heterozygous; also c.109T>C, c.482-24C>T, c.1410G>A) and one homozygous variant (c.636+44C>T) found in this patient"	"Germline"	"yes"	""	"0"	""	""	"g.61951853C>T"	""	"likely pathogenic"	""
"0000842926"	"1"	"70"	"11"	"61724880"	"61724880"	"subst"	"8.1213E-6"	"00000"	"BEST1_000227"	"g.61724880C>T"	"0"	"{PMID:Introini 2018:30457648}"	""	"BEST1 c.658 C>T, p.Gln220*"	""	"Unknown"	"?"	""	"0"	""	""	"g.61957408C>T"	""	"likely pathogenic"	""
"0000842927"	"1"	"70"	"11"	"61727481"	"61727481"	"subst"	"4.16691E-6"	"00000"	"BEST1_000144"	"g.61727481C>T"	"0"	"{PMID:Introini 2018:30457648}"	""	"BEST1 c.1066C>T, p.Arg356X"	""	"Unknown"	"?"	""	"0"	""	""	"g.61960009C>T"	""	"likely pathogenic"	""
"0000842928"	"2"	"70"	"11"	"61724432"	"61724432"	"subst"	"1.21878E-5"	"00000"	"BEST1_000311"	"g.61724432C>T"	"0"	"{PMID:Introini 2018:30457648}"	""	"BEST1 c.598C>T, p.Arg200*"	""	"Unknown"	"?"	""	"0"	""	""	"g.61956960C>T"	""	"likely pathogenic"	""
"0000842929"	"2"	"70"	"11"	"61724436"	"61724436"	"subst"	"6.50042E-5"	"00000"	"BEST1_000212"	"g.61724436T>C"	"0"	"{PMID:Introini 2018:30457648}"	""	"BEST1 c.602T>C, p.Ile201Thr"	""	"Unknown"	"?"	""	"0"	""	""	"g.61956964T>C"	""	"likely pathogenic"	""
"0000842930"	"3"	"70"	"11"	"61722635"	"61722635"	"subst"	"8.12203E-6"	"00000"	"BEST1_000396"	"g.61722635A>G"	"0"	"{PMID:Jaffal 2019:30781664}"	""	"BEST1 M1: rs749295558, c.209A>G, p.(Asp70Gly)"	""	"Germline"	"yes"	"rs749295558"	"0"	""	""	"g.61955163A>G"	""	"likely pathogenic"	""
"0000842931"	"21"	"70"	"11"	"61722635"	"61722635"	"subst"	"8.12203E-6"	"00000"	"BEST1_000396"	"g.61722635A>G"	"0"	"{PMID:Jaffal 2019:30781664}"	""	"BEST1 M1: rs749295558, c.209A>G, p.(Asp70Gly)"	""	"Germline"	"yes"	"rs749295558"	"0"	""	""	"g.61955163A>G"	""	"likely pathogenic"	""
"0000842932"	"21"	"70"	"11"	"61722635"	"61722635"	"subst"	"8.12203E-6"	"00000"	"BEST1_000396"	"g.61722635A>G"	"0"	"{PMID:Jaffal 2019:30781664}"	""	"BEST1 M1: rs749295558, c.209A>G, p.(Asp70Gly)"	""	"Germline"	"yes"	"rs749295558"	"0"	""	""	"g.61955163A>G"	""	"likely pathogenic"	""
"0000842933"	"3"	"70"	"11"	"61725733"	"61725733"	"subst"	"8.1215E-6"	"00000"	"BEST1_000165"	"g.61725733C>T"	"0"	"{PMID:Jaffal 2019:30781664}"	""	"BEST1 M3: rs775791299, c.830C>T, p.(Thr277Met)"	""	"Germline"	"yes"	"rs775791299"	"0"	""	""	"g.61958261C>T"	""	"likely pathogenic"	""
"0000842934"	"3"	"70"	"11"	"61730029"	"61730029"	"subst"	"4.06138E-6"	"00000"	"BEST1_000081"	"g.61730029C>T"	"0"	"{PMID:Jaffal 2019:30781664}"	""	"BEST1 M2: rs747043918, c.1403C>T, p.(Pro468Leu)"	""	"Germline"	"yes"	"rs747043918"	"0"	""	""	"g.61962557C>T"	""	"likely pathogenic"	""
"0000842935"	"3"	"70"	"11"	"61730029"	"61730029"	"subst"	"4.06138E-6"	"00000"	"BEST1_000081"	"g.61730029C>T"	"0"	"{PMID:Jaffal 2019:30781664}"	""	"BEST1 M2: rs747043918, c.1403C>T, p.(Pro468Leu)"	""	"Germline"	"yes"	"rs747043918"	"0"	""	""	"g.61962557C>T"	""	"likely pathogenic"	""
"0000842936"	"11"	"70"	"11"	"61730029"	"61730029"	"subst"	"4.06138E-6"	"00000"	"BEST1_000081"	"g.61730029C>T"	"0"	"{PMID:Jaffal 2019:30781664}"	""	"BEST1 M2: rs747043918, c.1403C>T, p.(Pro468Leu)"	""	"Germline"	"yes"	"rs747043918"	"0"	""	""	"g.61962557C>T"	""	"likely pathogenic"	""
"0000842937"	"11"	"70"	"11"	"61730029"	"61730029"	"subst"	"4.06138E-6"	"00000"	"BEST1_000081"	"g.61730029C>T"	"0"	"{PMID:Jaffal 2019:30781664}"	""	"BEST1 M2: rs747043918, c.1403C>T, p.(Pro468Leu)"	""	"Germline"	"yes"	"rs747043918"	"0"	""	""	"g.61962557C>T"	""	"likely pathogenic"	""
"0000842938"	"21"	"70"	"11"	"61723229"	"61723229"	"subst"	"0"	"00000"	"BEST1_000070"	"g.61723229A>G"	""	"{PMID:Al-Abri 2019:30787533}"	""	"VMD2/BEST1 p.Q96R:C.287A>G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955757A>G"	""	"likely pathogenic"	""
"0000842939"	"0"	"70"	"11"	"61719306"	"61719306"	"subst"	"0"	"00000"	"BEST1_000168"	"g.61719306G>A"	""	"{PMID:Ji 2019:31836750}"	""	"BEST1 c.28G>A, A10T"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951834G>A"	""	"likely pathogenic"	""
"0000842940"	"0"	"70"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Ji 2019:31836750}"	""	"BEST1 c.653G>A, R218H"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957403G>A"	""	"likely pathogenic"	""
"0000842941"	"0"	"70"	"11"	"61724923"	"61724923"	"subst"	"0"	"00000"	"BEST1_000368"	"g.61724923T>C"	""	"{PMID:Ji 2019:31836750}"	""	"BEST1 c.701T>C, L234P"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957451T>C"	""	"likely pathogenic"	""
"0000842942"	"0"	"70"	"11"	"61725630"	"61725630"	"subst"	"0"	"00000"	"BEST1_000175"	"g.61725630G>A"	""	"{PMID:Ji 2019:31836750}"	""	"BEST1 c.728G>A, A243T"	"error in annotation, A243T is caused by c.727G>A and not c.728G>A"	"Unknown"	"?"	""	"0"	""	""	"g.61958158G>A"	""	"likely pathogenic"	""
"0000842943"	"0"	"70"	"11"	"61726979"	"61726979"	"subst"	"0"	"00000"	"BEST1_000029"	"g.61726979C>A"	""	"{PMID:Ji 2019:31836750}"	""	"BEST1 c.877C>A, Q293K"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959507C>A"	""	"likely pathogenic"	""
"0000842944"	"0"	"70"	"11"	"61727007"	"61727007"	"subst"	"0"	"00000"	"BEST1_000033"	"g.61727007A>C"	""	"{PMID:Ji 2019:31836750}"	""	"BEST1 c.905A>C, D302A"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959535A>C"	""	"likely pathogenic"	""
"0000842945"	"0"	"70"	"11"	"61726986"	"61726986"	"subst"	"0"	"00000"	"BEST1_000191"	"g.61726986T>C"	""	"{PMID:Lima de Carvalho 2019:31070670}"	""	"BEST1 c.884T>C:p.Ile295Thr"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959514T>C"	""	"likely pathogenic"	""
"0000842946"	"0"	"70"	"11"	"61725630"	"61725630"	"subst"	"0"	"00000"	"BEST1_000175"	"g.61725630G>A"	""	"{PMID:Lima de Carvalho 2019:31070670}"	""	"BEST1 c.727G>A:p.Ala243Thr"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958158G>A"	""	"likely pathogenic"	""
"0000842947"	"0"	"70"	"11"	"61719306"	"61719306"	"subst"	"0"	"00000"	"BEST1_000168"	"g.61719306G>A"	""	"{PMID:Lima de Carvalho 2019:31070670}"	""	"BEST1 c.28G>A:p.Ala10Thr"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951834G>A"	""	"likely pathogenic"	""
"0000842948"	"0"	"70"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Lima de Carvalho 2019:31070670}"	""	"BEST1 c.653G>A:p.Arg218His"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957403G>A"	""	"likely pathogenic"	""
"0000842949"	"0"	"70"	"11"	"61727002"	"61727002"	"subst"	"4.06091E-6"	"00000"	"BEST1_000143"	"g.61727002G>C"	""	"{PMID:Lima de Carvalho 2019:31070670}"	""	"BEST1 c.900G>C:p.Glu300Asp"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959530G>C"	""	"likely pathogenic"	""
"0000842950"	"0"	"70"	"11"	"61719367"	"61719367"	"subst"	"4.06918E-6"	"00000"	"BEST1_000099"	"g.61719367A>G"	""	"{PMID:Lima de Carvalho 2019:31070670}"	""	"BEST1 c.89A>G:p.Lys30Arg"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951895A>G"	""	"likely pathogenic"	""
"0000842951"	"0"	"70"	"11"	"61726989"	"61726989"	"subst"	"0"	"00000"	"BEST1_000109"	"g.61726989A>G"	""	"{PMID:Lima de Carvalho 2019:31070670}"	""	"BEST1 c.887A>G:p.Asn296Ser"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959517A>G"	""	"likely pathogenic"	""
"0000842952"	"0"	"70"	"11"	"61726989"	"61726989"	"subst"	"0"	"00000"	"BEST1_000109"	"g.61726989A>G"	""	"{PMID:Lima de Carvalho 2019:31070670}"	""	"BEST1 c.887A>G:p.Asn296Ser"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959517A>G"	""	"likely pathogenic"	""
"0000842953"	"0"	"70"	"11"	"61725630"	"61725630"	"subst"	"0"	"00000"	"BEST1_000175"	"g.61725630G>A"	""	"{PMID:Lima de Carvalho 2019:31070670}"	""	"BEST1 c.727G>A:p.Ala243Thr"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958158G>A"	""	"likely pathogenic"	""
"0000842954"	"0"	"70"	"11"	"61723216"	"61723216"	"subst"	"0"	"00000"	"BEST1_000258"	"g.61723216C>T"	""	"{PMID:Lima de Carvalho 2019:31070670}"	""	"BEST1 c.274C>T:p.Arg92Cys"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955744C>T"	""	"likely pathogenic"	""
"0000842955"	"0"	"70"	"11"	"61722644"	"61722644"	"subst"	"0"	"00000"	"BEST1_000100"	"g.61722644T>A"	""	"{PMID:Lima de Carvalho 2019:31070670}"	""	"BEST1 c.218T>A:p.Ile73Asn"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955172T>A"	""	"likely pathogenic"	""
"0000842956"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Lima de Carvalho 2019:31070670}"	""	"BEST1 c.652C>T:p.Arg218Cys"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000842957"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Lima de Carvalho 2019:31070670}"	""	"BEST1 ‘-c.652C>T:p.Arg218C"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000842958"	"0"	"70"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Lima de Carvalho 2019:31070670}"	""	"BEST1 c.653G>A:p.Arg218His"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957403G>A"	""	"likely pathogenic"	""
"0000842959"	"3"	"70"	"11"	"61719369"	"61719369"	"subst"	"0"	"00000"	"BEST1_000391"	"g.61719369C>A"	""	"{PMID:Chibani 2019:31254423}"	""	"BEST1 c.C91A [p.L31M]"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951897C>A"	""	"likely pathogenic"	""
"0000842960"	"3"	"70"	"11"	"61719369"	"61719369"	"subst"	"0"	"00000"	"BEST1_000391"	"g.61719369C>A"	""	"{PMID:Chibani 2019:31254423}"	""	"BEST1 c.C91A [p.L31M]"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951897C>A"	""	"likely pathogenic"	""
"0000842961"	"3"	"70"	"11"	"61730176"	"61730176"	"subst"	"1.62446E-5"	"00000"	"BEST1_000377"	"g.61730176C>G"	""	"{PMID:Chibani 2019:31254423}"	""	"BEST1 c.C1550G (p.S517X)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61962704C>G"	""	"likely pathogenic"	""
"0000842984"	"0"	"70"	"11"	"61719304"	"61719304"	"subst"	"0"	"00000"	"BEST1_000244"	"g.61719304T>C"	""	"{PMID:Augstburger 2019:31465755}"	""	"BEST1 c.26T>C, p.(Val9Ala)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951832T>C"	""	"likely pathogenic"	""
"0000842985"	"0"	"70"	"11"	"61719310"	"61719310"	"subst"	"0"	"00000"	"BEST1_000245"	"g.61719310A>T"	""	"{PMID:Augstburger 2019:31465755}"	""	"BEST1 c.32A>T, p.(Asn11Ile)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951838A>T"	""	"likely pathogenic"	""
"0000842986"	"0"	"70"	"11"	"61719315"	"61719315"	"subst"	"0"	"00000"	"BEST1_000006"	"g.61719315C>T"	""	"{PMID:Augstburger 2019:31465755}"	""	"BEST1 c.37C>T, p.(Arg13Cys)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951843C>T"	""	"likely pathogenic"	""
"0000842987"	"0"	"70"	"11"	"61719322"	"61719322"	"subst"	"0"	"00000"	"BEST1_000221"	"g.61719322G>A"	""	"{PMID:Augstburger 2019:31465755}"	""	"BEST1 c.44G>A, p.(Gly15Asp)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951850G>A"	""	"likely pathogenic"	""
"0000842988"	"0"	"70"	"11"	"61719325"	"61719325"	"subst"	"0"	"00000"	"BEST1_000169"	"g.61719325C>T"	""	"{PMID:Augstburger 2019:31465755}"	""	"BEST1 c.47C>T, p.(Ser16Phe)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951853C>T"	""	"likely pathogenic"	""
"0000842989"	"0"	"70"	"11"	"61719325"	"61719325"	"subst"	"0"	"00000"	"BEST1_000169"	"g.61719325C>T"	""	"{PMID:Augstburger 2019:31465755}"	""	"BEST1 c.47C>T, p.(Ser16Phe)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951853C>T"	""	"likely pathogenic"	""
"0000842990"	"0"	"70"	"11"	"61719325"	"61719325"	"subst"	"0"	"00000"	"BEST1_000169"	"g.61719325C>T"	""	"{PMID:Augstburger 2019:31465755}"	""	"BEST1 c.47C>T, p.(Ser16Phe)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951853C>T"	""	"likely pathogenic"	""
"0000842991"	"0"	"70"	"11"	"61719325"	"61719325"	"subst"	"0"	"00000"	"BEST1_000169"	"g.61719325C>T"	""	"{PMID:Augstburger 2019:31465755}"	""	"BEST1 c.47C>T, p.(Ser16Phe)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951853C>T"	""	"likely pathogenic"	""
"0000842992"	"0"	"70"	"11"	"61719325"	"61719325"	"subst"	"0"	"00000"	"BEST1_000169"	"g.61719325C>T"	""	"{PMID:Augstburger 2019:31465755}"	""	"BEST1 c.47C>T, p.(Ser16Phe)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951853C>T"	""	"likely pathogenic"	""
"0000842993"	"0"	"70"	"11"	"61719360"	"61719360"	"subst"	"0"	"00000"	"BEST1_000388"	"g.61719360A>C"	""	"{PMID:Augstburger 2019:31465755}"	""	"BEST1 c.82A>C, p.(Ile28Leu)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951888A>C"	""	"likely pathogenic"	""
"0000842994"	"0"	"70"	"11"	"61722641"	"61722641"	"subst"	"0"	"00000"	"BEST1_000397"	"g.61722641A>T"	""	"{PMID:Augstburger 2019:31465755}"	""	"BEST1 c.215A>T, p.(Tyr72Phe)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955169A>T"	""	"likely pathogenic"	""
"0000842995"	"0"	"70"	"11"	"61722650"	"61722650"	"subst"	"0"	"00000"	"BEST1_000400"	"g.61722650T>C"	""	"{PMID:Augstburger 2019:31465755}"	""	"BEST1 c.224T>C, p.(Leu75Pro)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955178T>C"	""	"likely pathogenic"	""
"0000842996"	"0"	"70"	"11"	"61723229"	"61723229"	"subst"	"0"	"00000"	"BEST1_000070"	"g.61723229A>G"	""	"{PMID:Augstburger 2019:31465755}"	""	"BEST1 c.287A>G, p.(Gln96Arg)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955757A>G"	""	"likely pathogenic"	""
"0000842997"	"0"	"70"	"11"	"61723236"	"61723236"	"subst"	"0"	"00000"	"BEST1_000102"	"g.61723236G>C"	""	"{PMID:Augstburger 2019:31465755}"	""	"BEST1 c.294G>C, p.(Glu98Asp)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955764G>C"	""	"likely pathogenic"	""
"0000842998"	"0"	"70"	"11"	"61723345"	"61723345"	"subst"	"0"	"00000"	"BEST1_000014"	"g.61723345G>A"	""	"{PMID:Augstburger 2019:31465755}"	""	"BEST1 c.403G>A, p.(Gly135Ser)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955873G>A"	""	"likely pathogenic"	""
"0000842999"	"0"	"70"	"11"	"61723345"	"61723345"	"subst"	"0"	"00000"	"BEST1_000014"	"g.61723345G>A"	""	"{PMID:Augstburger 2019:31465755}"	""	"BEST1 c.403G>A, p.(Gly135Ser)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955873G>A"	""	"likely pathogenic"	""
"0000843000"	"0"	"70"	"11"	"61723361"	"61723361"	"subst"	"0"	"00000"	"BEST1_000419"	"g.61723361T>C"	""	"{PMID:Augstburger 2019:31465755}"	""	"BEST1 c.419T>C, p.(Leu140Pro)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955889T>C"	""	"likely pathogenic"	""
"0000843001"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Augstburger 2019:31465755}"	""	"BEST1 c.652C>T, p.(Arg218Cys)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000843002"	"0"	"70"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Augstburger 2019:31465755}"	""	"BEST1 c.653G>A, p.(Arg218His)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957403G>A"	""	"likely pathogenic"	""
"0000843003"	"0"	"70"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Augstburger 2019:31465755}"	""	"BEST1 c.653G>A, p.(Arg218His)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957403G>A"	""	"likely pathogenic"	""
"0000843004"	"0"	"70"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Augstburger 2019:31465755}"	""	"BEST1 c.653G>A, p.(Arg218His)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957403G>A"	""	"likely pathogenic"	""
"0000843005"	"0"	"70"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Augstburger 2019:31465755}"	""	"BEST1 c.653G>A, p.(Arg218His)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957403G>A"	""	"likely pathogenic"	""
"0000843006"	"0"	"70"	"11"	"61724914"	"61724914"	"subst"	"0"	"00000"	"BEST1_000316"	"g.61724914G>C"	""	"{PMID:Augstburger 2019:31465755}"	""	"BEST1 c.692G>C, p.(Ser231Thr)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957442G>C"	""	"likely pathogenic"	""
"0000843007"	"0"	"70"	"11"	"61724914"	"61724914"	"subst"	"0"	"00000"	"BEST1_000316"	"g.61724914G>C"	""	"{PMID:Augstburger 2019:31465755}"	""	"BEST1 c.692G>C, p.(Ser231Thr)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957442G>C"	""	"likely pathogenic"	""
"0000843008"	"0"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Augstburger 2019:31465755}"	""	"BEST1 c.728C>T, p.(Ala243Val)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958159C>T"	""	"likely pathogenic"	""
"0000843009"	"0"	"70"	"11"	"61725756"	"61725756"	"subst"	"0"	"00000"	"BEST1_000433"	"g.61725756G>A"	""	"{PMID:Augstburger 2019:31465755}"	""	"BEST1 c.853G>A, p.(Val285Ile)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958284G>A"	""	"likely pathogenic"	""
"0000843010"	"0"	"70"	"11"	"61726976"	"61726976"	"subst"	"0"	"00000"	"BEST1_000108"	"g.61726976G>A"	""	"{PMID:Augstburger 2019:31465755}"	""	"BEST1 c.874G>A, p.(Glu292Lys)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959504G>A"	""	"likely pathogenic"	""
"0000843011"	"0"	"70"	"11"	"61726976"	"61726976"	"subst"	"0"	"00000"	"BEST1_000108"	"g.61726976G>A"	""	"{PMID:Augstburger 2019:31465755}"	""	"BEST1 c.874G>A, p.(Glu292Lys)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959504G>A"	""	"likely pathogenic"	""
"0000843012"	"0"	"70"	"11"	"61726976"	"61726976"	"subst"	"0"	"00000"	"BEST1_000108"	"g.61726976G>A"	""	"{PMID:Augstburger 2019:31465755}"	""	"BEST1 c.874G>A, p.(Glu292Lys)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959504G>A"	""	"likely pathogenic"	""
"0000843013"	"0"	"70"	"11"	"61726976"	"61726976"	"subst"	"0"	"00000"	"BEST1_000108"	"g.61726976G>A"	""	"{PMID:Augstburger 2019:31465755}"	""	"BEST1 c.874G>A, p.(Glu292Lys)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959504G>A"	""	"likely pathogenic"	""
"0000843014"	"0"	"70"	"11"	"61726990"	"61726990"	"subst"	"0"	"00000"	"BEST1_000110"	"g.61726990C>A"	""	"{PMID:Augstburger 2019:31465755}"	""	"BEST1 c.888C>A, p.(Asn296Lys)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959518C>A"	""	"likely pathogenic"	""
"0000843015"	"0"	"70"	"11"	"61726991"	"61726991"	"subst"	"4.06105E-6"	"00000"	"BEST1_000030"	"g.61726991C>T"	""	"{PMID:Augstburger 2019:31465755}"	""	"BEST1 c.889C>T, p.(Pro297Ser)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959519C>T"	""	"likely pathogenic"	""
"0000843016"	"0"	"70"	"11"	"61726991"	"61726991"	"subst"	"4.06105E-6"	"00000"	"BEST1_000030"	"g.61726991C>T"	""	"{PMID:Augstburger 2019:31465755}"	""	"BEST1 c.889C>T, p.(Pro297Ser)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959519C>T"	""	"likely pathogenic"	""
"0000843017"	"0"	"70"	"11"	"61726991"	"61726991"	"subst"	"4.06105E-6"	"00000"	"BEST1_000030"	"g.61726991C>T"	""	"{PMID:Augstburger 2019:31465755}"	""	"BEST1 c.889C>T, p.(Pro297Ser)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959519C>T"	""	"likely pathogenic"	""
"0000843018"	"0"	"70"	"11"	"61727007"	"61727007"	"subst"	"0"	"00000"	"BEST1_000288"	"g.61727007A>G"	""	"{PMID:Augstburger 2019:31465755}"	""	"BEST1 c.905A>G, p.(Asp302Gly)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959535A>G"	""	"likely pathogenic"	""
"0000843019"	"0"	"70"	"11"	"61727009"	"61727009"	"subst"	"0"	"00000"	"BEST1_000350"	"g.61727009G>A"	""	"{PMID:Augstburger 2019:31465755}"	""	"BEST1 c.907G>A, p.(Asp303Asn)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959537G>A"	""	"likely pathogenic"	""
"0000843020"	"0"	"70"	"11"	"61727019"	"61727019"	"subst"	"0"	"00000"	"BEST1_000292"	"g.61727019A>G"	""	"{PMID:Augstburger 2019:31465755}"	""	"BEST1 c.917A>G, p.(Glu306Gly)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959547A>G"	""	"likely pathogenic"	""
"0000843021"	"0"	"70"	"11"	"61727019"	"61727019"	"subst"	"0"	"00000"	"BEST1_000292"	"g.61727019A>G"	""	"{PMID:Augstburger 2019:31465755}"	""	"BEST1 c.917A>G, p.(Glu306Gly)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959547A>G"	""	"likely pathogenic"	""
"0000843022"	"0"	"70"	"11"	"61727022"	"61727022"	"subst"	"0"	"00000"	"BEST1_000374"	"g.61727022C>A"	""	"{PMID:Augstburger 2019:31465755}"	""	"BEST1 c.920C>A, p.(Thr307Asn)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959550C>A"	""	"likely pathogenic"	""
"0000843023"	"0"	"70"	"11"	"61727022"	"61727022"	"subst"	"0"	"00000"	"BEST1_000374"	"g.61727022C>A"	""	"{PMID:Augstburger 2019:31465755}"	""	"BEST1 c.920C>A, p.(Thr307Asn)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959550C>A"	""	"likely pathogenic"	""
"0000843024"	"0"	"70"	"11"	"61727026"	"61727026"	"subst"	"0"	"00000"	"BEST1_000437"	"g.61727026C>A"	""	"{PMID:Augstburger 2019:31465755}"	""	"BEST1 c.924C>A, p.(Asn308Lys)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959554C>A"	""	"likely pathogenic"	""
"0000843025"	"0"	"70"	"11"	"61730023"	"61730023"	"subst"	"0"	"00000"	"BEST1_000443"	"g.61730023G>C"	""	"{PMID:Augstburger 2019:31465755}"	""	"BEST1 c.1397G>C, p.(Ser466Thr)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61962551G>C"	""	"likely pathogenic"	""
"0000843034"	"0"	"70"	"11"	"61722655"	"61722655"	"subst"	"0"	"00000"	"BEST1_000404"	"g.61722655C>T"	""	"{PMID:Domingo Prim 2019:31518904}"	""	"BEST1 c.229C > T (p.Pro77Ser)"	"iPSCs derived from patient fibroblasts; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955183C>T"	""	"likely pathogenic"	""
"0000843077"	"10"	"70"	"11"	"61727379"	"61727379"	"subst"	"0"	"00000"	"BEST1_000440"	"g.61727379G>A"	"0"	"{PMID:Panpan 2020:31969119}"	""	"BEST1 c.646G > A (p.Val216Ile)"	"different transcript used: NM_001363591.1:c.646G>A, p.(Val216Ile) erroneously marker in paper as g.61725867G>A; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959907G>A"	""	"likely pathogenic"	""
"0000843078"	"10"	"70"	"11"	"61727379"	"61727379"	"subst"	"0"	"00000"	"BEST1_000440"	"g.61727379G>A"	"0"	"{PMID:Panpan 2020:31969119}"	""	"BEST1 c.646G > A (p.Val216Ile)"	"different transcript used: NM_001363591.1:c.646G>A, p.(Val216Ile) erroneously marker in paper as g.61725867G>A; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959907G>A"	""	"likely pathogenic"	""
"0000843079"	"10"	"70"	"11"	"61727379"	"61727379"	"subst"	"0"	"00000"	"BEST1_000440"	"g.61727379G>A"	"0"	"{PMID:Panpan 2020:31969119}"	""	"BEST1 c.646G > A (p.Val216Ile)"	"different transcript used: NM_001363591.1:c.646G>A, p.(Val216Ile) erroneously marker in paper as g.61725867G>A; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959907G>A"	""	"likely pathogenic"	""
"0000843080"	"0"	"70"	"11"	"61719311"	"61719311"	"subst"	"0"	"00000"	"BEST1_000384"	"g.61719311T>G"	"0"	"{PMID:Nachtigal 2020:32111077}"	""	"BEST1 N11K"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951839T>G"	""	"likely pathogenic"	""
"0000843081"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	"0"	"{PMID:Nachtigal 2020:32111077}"	""	"BEST1 R218C"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000843082"	"0"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	"0"	"{PMID:Nachtigal 2020:32111077}"	""	"BEST1 I295del"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000843083"	"0"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	"0"	"{PMID:Nachtigal 2020:32111077}"	""	"BEST1 I295del"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000843084"	"0"	"70"	"11"	"61723239"	"61723239"	"subst"	"0"	"00000"	"BEST1_000262"	"g.61723239C>A"	"0"	"{PMID:Nachtigal 2020:32111077}"	""	"BEST1 N99K"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955767C>A"	""	"likely pathogenic"	""
"0000843085"	"0"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	"0"	"{PMID:Nachtigal 2020:32111077}"	""	"BEST1 R141H"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic"	""
"0000843086"	"0"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	"0"	"{PMID:Nachtigal 2020:32111077}"	""	"BEST1 A195V"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic"	""
"0000843087"	"0"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	"0"	"{PMID:Nachtigal 2020:32111077}"	""	"BEST1 A195V"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic"	""
"0000843088"	"0"	"70"	"11"	"61724424"	"61724449"	"del"	"0"	"00000"	"BEST1_000427"	"g.61724424_61724449del"	"0"	"{PMID:Nachtigal 2020:32111077}"	""	"BEST1 L197PX26"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61956952_61956977del"	""	"likely pathogenic"	""
"0000843089"	"0"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	"0"	"{PMID:Nachtigal 2020:32111077}"	""	"BEST1 R141H"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic"	""
"0000843090"	"0"	"70"	"11"	"61724424"	"61724449"	"del"	"0"	"00000"	"BEST1_000427"	"g.61724424_61724449del"	"0"	"{PMID:Nachtigal 2020:32111077}"	""	"BEST1 L197PX26"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61956952_61956977del"	""	"likely pathogenic"	""
"0000843091"	"0"	"70"	"11"	"61727036"	"61727036"	"subst"	"4.87369E-5"	"00000"	"BEST1_000036"	"g.61727036G>A"	"0"	"{PMID:Birtel 2020:32147488}"	""	"BEST1 c.934G>A, p.Asp312Asn"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959564G>A"	""	"likely pathogenic"	""
"0000843092"	"0"	"70"	"11"	"61729996"	"61729996"	"subst"	"0"	"00000"	"BEST1_000442"	"g.61729996C>G"	"0"	"{PMID:Birtel 2020:32147488}"	""	"BEST1 c.1370C>G, p.Ser457*"	"error in annotation: c.1370C>G actually causes p.(Pro457Arg) and not p.(Ser457*); heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61962524C>G"	""	"likely pathogenic"	""
"0000843093"	"0"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	"0"	"{PMID:Birtel 2020:32147488}"	""	"BEST1 c.422G>A, p.Arg141His"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic"	""
"0000843094"	"0"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	"0"	"{PMID:Birtel 2020:32147488}"	""	"BEST1 c.422G>A, p.Arg141His"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic"	""
"0000843095"	"0"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	"0"	"{PMID:Birtel 2020:32147488}"	""	"BEST1 c.584C>T, p.Ala195Val"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic"	""
"0000843096"	"0"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	"0"	"{PMID:Birtel 2020:32147488}"	""	"BEST1 c.584C>T, p.Ala195Val"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic"	""
"0000843097"	"0"	"70"	"11"	"61724880"	"61724880"	"subst"	"8.1213E-6"	"00000"	"BEST1_000227"	"g.61724880C>T"	"0"	"{PMID:Birtel 2020:32147488}"	""	"BEST1 c.658C>T, p.Gln220*"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957408C>T"	""	"likely pathogenic"	""
"0000843098"	"0"	"70"	"11"	"61719361"	"61719361"	"subst"	"0"	"00000"	"BEST1_000389"	"g.61719361T>A"	"0"	"{PMID:Birtel 2020:32147488}"	""	"BEST1 c.83T>A, p.Ile28Asn"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951889T>A"	""	"likely pathogenic"	""
"0000843099"	"0"	"70"	"11"	"61727371"	"61727371"	"subst"	"0"	"00000"	"BEST1_000128"	"g.61727371T>C"	"0"	"{PMID:Birtel 2020:32147488}"	""	"BEST1 c.956T>C, p.Leu319Pro"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959899T>C"	""	"likely pathogenic"	""
"0000843100"	"0"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	"0"	"{PMID:Birtel 2020:32147488}"	""	"BEST1 c.422G>A, p.Arg141His"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic"	""
"0000843101"	"0"	"70"	"11"	"61719315"	"61719315"	"subst"	"0"	"00000"	"BEST1_000006"	"g.61719315C>T"	"0"	"{PMID:Birtel 2020:32147488}"	""	"BEST1 c.37C>T, p.Arg13Cys"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951843C>T"	""	"likely pathogenic"	""
"0000843102"	"0"	"70"	"11"	"61724471"	"61724471"	"subst"	"0"	"00000"	"BEST1_000125"	"g.61724471G>A"	"0"	"{PMID:Birtel 2020:32147488}"	""	"BEST1 c.636+1G>A, splice site"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61956999G>A"	""	"likely pathogenic"	""
"0000843103"	"0"	"70"	"11"	"61724471"	"61724471"	"subst"	"0"	"00000"	"BEST1_000125"	"g.61724471G>A"	"0"	"{PMID:Birtel 2020:32147488}"	""	"BEST1 c.636+1G>A, splice site"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61956999G>A"	""	"likely pathogenic"	""
"0000843104"	"0"	"70"	"11"	"61727036"	"61727036"	"subst"	"4.87369E-5"	"00000"	"BEST1_000036"	"g.61727036G>A"	"0"	"{PMID:Birtel 2020:32147488}"	""	"BEST1 c.934G>A, p.Asp312Asn"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959564G>A"	""	"likely pathogenic"	""
"0000843105"	"0"	"70"	"11"	"61717904"	"61717904"	"subst"	"0"	"00000"	"BEST1_000216"	"g.61717904G>A"	"0"	"{PMID:Birtel 2020:32147488}"	""	"BEST1 c.-37+5G>A, splice site"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61950432G>A"	""	"likely pathogenic"	""
"0000843106"	"21"	"70"	"11"	"61725754"	"61725754"	"subst"	"0"	"00000"	"BEST1_000115"	"g.61725754A>G"	"0"	"{PMID:Garza-Garza 2020:32207364}"	""	"BEST1 c.851A>G; p.Tyr284Cys"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958282A>G"	""	"likely pathogenic"	""
"0000843107"	"0"	"70"	"11"	"61725754"	"61725754"	"subst"	"0"	"00000"	"BEST1_000115"	"g.61725754A>G"	"0"	"{PMID:Garza-Garza 2020:32207364}"	""	"BEST1 c.851A>G; p.Tyr284Cys"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958282A>G"	""	"likely pathogenic"	""
"0000843108"	"0"	"70"	"11"	"61725754"	"61725754"	"subst"	"0"	"00000"	"BEST1_000115"	"g.61725754A>G"	"0"	"{PMID:Garza-Garza 2020:32207364}"	""	"BEST1 c.851A>G; p.Tyr284Cys"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958282A>G"	""	"likely pathogenic"	""
"0000843120"	"10"	"70"	"11"	"61723360"	"61723360"	"subst"	"3.49572E-5"	"00000"	"BEST1_000202"	"g.61723360C>G"	"0"	"{PMID:Shah 2020:32239196}"	""	"BEST1 c.418C>G p.(Leu140Val)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955888C>G"	""	"likely pathogenic"	""
"0000843121"	"10"	"70"	"11"	"61723360"	"61723360"	"subst"	"3.49572E-5"	"00000"	"BEST1_000202"	"g.61723360C>G"	"0"	"{PMID:Shah 2020:32239196}"	""	"BEST1 c.418C>G p.(Leu140Val)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955888C>G"	""	"likely pathogenic"	""
"0000843122"	"10"	"70"	"11"	"61723360"	"61723360"	"subst"	"3.49572E-5"	"00000"	"BEST1_000202"	"g.61723360C>G"	"0"	"{PMID:Shah 2020:32239196}"	""	"BEST1 c.418C>G p.(Leu140Val)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955888C>G"	""	"likely pathogenic"	""
"0000843123"	"10"	"70"	"11"	"61723360"	"61723360"	"subst"	"3.49572E-5"	"00000"	"BEST1_000202"	"g.61723360C>G"	"0"	"{PMID:Shah 2020:32239196}"	""	"BEST1 c.418C>G p.(Leu140Val)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955888C>G"	""	"likely pathogenic"	""
"0000843124"	"10"	"70"	"11"	"61723360"	"61723360"	"subst"	"3.49572E-5"	"00000"	"BEST1_000202"	"g.61723360C>G"	"0"	"{PMID:Shah 2020:32239196}"	""	"BEST1 c.418C>G p.(Leu140Val)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955888C>G"	""	"likely pathogenic"	""
"0000843125"	"10"	"70"	"11"	"61723360"	"61723360"	"subst"	"3.49572E-5"	"00000"	"BEST1_000202"	"g.61723360C>G"	"0"	"{PMID:Shah 2020:32239196}"	""	"BEST1 c.418C>G p.(Leu140Val)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955888C>G"	""	"likely pathogenic"	""
"0000843126"	"10"	"70"	"11"	"61723360"	"61723360"	"subst"	"3.49572E-5"	"00000"	"BEST1_000202"	"g.61723360C>G"	"0"	"{PMID:Shah 2020:32239196}"	""	"BEST1 c.418C>G p.(Leu140Val)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955888C>G"	""	"likely pathogenic"	""
"0000843127"	"10"	"70"	"11"	"61723360"	"61723360"	"subst"	"3.49572E-5"	"00000"	"BEST1_000202"	"g.61723360C>G"	"0"	"{PMID:Shah 2020:32239196}"	""	"BEST1 c.418C>G p.(Leu140Val)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955888C>G"	""	"likely pathogenic"	""
"0000843128"	"10"	"70"	"11"	"61723360"	"61723360"	"subst"	"3.49572E-5"	"00000"	"BEST1_000202"	"g.61723360C>G"	"0"	"{PMID:Shah 2020:32239196}"	""	"BEST1 c.418C>G p.(Leu140Val)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955888C>G"	""	"likely pathogenic"	""
"0000843129"	"10"	"70"	"11"	"61723360"	"61723360"	"subst"	"3.49572E-5"	"00000"	"BEST1_000202"	"g.61723360C>G"	"0"	"{PMID:Shah 2020:32239196}"	""	"BEST1 c.418C>G p.(Leu140Val)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955888C>G"	""	"likely pathogenic"	""
"0000843130"	"10"	"70"	"11"	"61724881"	"61724881"	"subst"	"0"	"00000"	"BEST1_000428"	"g.61724881A>C"	"0"	"{PMID:Shah 2020:32239196}"	""	"BEST1 c.659A>C p.(Gln220Pro)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957409A>C"	""	"likely pathogenic"	""
"0000843131"	"10"	"70"	"11"	"61724881"	"61724881"	"subst"	"0"	"00000"	"BEST1_000428"	"g.61724881A>C"	"0"	"{PMID:Shah 2020:32239196}"	""	"BEST1 c.659A>C p.(Gln220Pro)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957409A>C"	""	"likely pathogenic"	""
"0000843132"	"10"	"70"	"11"	"61727379"	"61727379"	"subst"	"0"	"00000"	"BEST1_000440"	"g.61727379G>A"	"0"	"{PMID:Shah 2020:32239196}"	""	"BEST1 c.964G>A p.(Val322Met)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959907G>A"	""	"likely pathogenic"	""
"0000843133"	"10"	"70"	"11"	"61724436"	"61724436"	"subst"	"6.50042E-5"	"00000"	"BEST1_000212"	"g.61724436T>C"	"0"	"{PMID:Shah 2020:32239196}"	""	"BEST1 c.602T>C p.(Ile201Thr)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956964T>C"	""	"likely pathogenic"	""
"0000843134"	"10"	"70"	"11"	"61719400"	"61719400"	"subst"	"1.62571E-5"	"00000"	"BEST1_000253"	"g.61719400T>C"	"0"	"{PMID:Shah 2020:32239196}"	""	"BEST1 c.122T>C p.(Leu41Pro)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951928T>C"	""	"likely pathogenic"	""
"0000843135"	"10"	"70"	"11"	"61723342"	"61723342"	"subst"	"3.4905E-5"	"00000"	"BEST1_000209"	"g.61723342C>G"	"0"	"{PMID:Shah 2020:32239196}"	""	"BEST1 c.400C>G p.(Leu134Val)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955870C>G"	""	"likely pathogenic"	""
"0000843136"	"10"	"70"	"11"	"61723396"	"61723396"	"subst"	"2.86217E-5"	"00000"	"BEST1_000308"	"g.61723396C>G"	"0"	"{PMID:Shah 2020:32239196}"	""	"BEST1 c.454C>G p.(Pro152Ala)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955924C>G"	""	"likely pathogenic"	""
"0000843139"	"10"	"70"	"11"	"61719354"	"61719354"	"subst"	"0"	"00000"	"BEST1_000387"	"g.61719354G>A"	"0"	"{PMID:Campa 2020:32321300}"	""	"BEST1 c.76G > A (p.Gly26Ser)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951882G>A"	""	"likely pathogenic"	""
"0000843160"	"10"	"90"	"11"	"61727000"	"61727000"	"subst"	"0"	"00000"	"BEST1_000142"	"g.61727000G>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.898G>A, p.(Glu300Lys)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959528G>A"	""	"pathogenic"	"ACMG"
"0000843161"	"10"	"90"	"11"	"61723252"	"61723252"	"subst"	"0"	"00000"	"BEST1_000208"	"g.61723252G>C"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.310G>C, p.(Asp104His)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955780G>C"	""	"pathogenic"	"ACMG"
"0000843162"	"20"	"90"	"11"	"61724920"	"61724920"	"subst"	"0"	"00000"	"BEST1_000163"	"g.61724920C>T"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.698C>T, p.(Pro233Leu)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957448C>T"	""	"pathogenic"	"ACMG"
"0000843163"	"0"	"90"	"11"	"61727000"	"61727000"	"subst"	"0"	"00000"	"BEST1_000142"	"g.61727000G>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.898G>A, p.(Glu300Lys)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959528G>A"	""	"pathogenic"	"ACMG"
"0000843164"	"0"	"90"	"11"	"61719336"	"61719336"	"subst"	"0"	"00000"	"BEST1_000199"	"g.61719336C>G"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.58C>G, p.(Leu20Val)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951864C>G"	""	"pathogenic"	"ACMG"
"0000843165"	"0"	"90"	"11"	"61719336"	"61719336"	"subst"	"0"	"00000"	"BEST1_000199"	"g.61719336C>G"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.58C>G, p.(Leu20Val)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951864C>G"	""	"pathogenic"	"ACMG"
"0000843166"	"3"	"90"	"11"	"61725667"	"61725667"	"subst"	"1.62433E-5"	"00000"	"BEST1_000077"	"g.61725667G>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.764G>A, p.(Arg255Gln)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958195G>A"	""	"pathogenic"	"ACMG"
"0000843167"	"11"	"70"	"11"	"61722662"	"61722662"	"subst"	"0"	"00000"	"BEST1_000406"	"g.61722662C>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.236C>A, p.(Ser79Tyr)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955190C>A"	""	"likely pathogenic"	"ACMG"
"0000843168"	"21"	"90"	"11"	"61722667"	"61722667"	"subst"	"0"	"00000"	"BEST1_000304"	"g.61722667G>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.241G>A, p.(Val81Met)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955195G>A"	""	"pathogenic"	"ACMG"
"0000843169"	"0"	"90"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.652C>T, p.(Arg218Cys)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957402C>T"	""	"pathogenic"	"ACMG"
"0000843170"	"1"	"90"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.584C>T, p.(Ala195Val)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956946C>T"	""	"pathogenic"	"ACMG"
"0000843171"	"2"	"90"	"11"	"61725666"	"61725666"	"subst"	"5.27893E-5"	"00000"	"BEST1_000063"	"g.61725666C>T"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.763C>T, p.(Arg255Trp)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958194C>T"	""	"pathogenic"	"ACMG"
"0000843172"	"0"	"70"	"11"	"61722661"	"61722661"	"dup"	"0"	"00000"	"BEST1_000405"	"g.61722661dup"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.235dup, p.(Ser79Phefs*153)"	"annotation shoul be c.235dup and not c.232_233insT; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955189dup"	""	"likely pathogenic"	"ACMG"
"0000843173"	"0"	"90"	"11"	"61719283"	"61719283"	"subst"	"0"	"00000"	"BEST1_000381"	"g.61719283C>G"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.5C>G, p.(Thr2Ser)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951811C>G"	""	"pathogenic"	"ACMG"
"0000843174"	"11"	"90"	"11"	"61723364"	"61723371"	"del"	"0"	"00000"	"BEST1_000420"	"g.61723364_61723371del"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.422_429del, p.(Arg141Glnfs*88)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955892_61955899del"	""	"pathogenic"	"ACMG"
"0000843175"	"21"	"70"	"11"	"61727363"	"61727363"	"subst"	"0"	"00000"	"BEST1_000438"	"g.61727363G>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.949-1G>A, p.(?)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959891G>A"	""	"likely pathogenic"	"ACMG"
"0000843176"	"20"	"90"	"11"	"61727000"	"61727000"	"subst"	"0"	"00000"	"BEST1_000142"	"g.61727000G>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.898G>A, p.(Glu300Lys)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959528G>A"	""	"pathogenic"	"ACMG"
"0000843177"	"0"	"90"	"11"	"61726991"	"61726991"	"subst"	"0"	"00000"	"BEST1_000321"	"g.61726991C>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.889C>A, p.(Pro297Thr)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959519C>A"	""	"pathogenic"	"ACMG"
"0000843178"	"0"	"90"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.652C>T, p.(Arg218Cys)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957402C>T"	""	"pathogenic"	"ACMG"
"0000843179"	"0"	"90"	"11"	"61727000"	"61727000"	"subst"	"0"	"00000"	"BEST1_000142"	"g.61727000G>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.898G>A, p.(Glu300Lys)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959528G>A"	""	"pathogenic"	"ACMG"
"0000843180"	"0"	"90"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.652C>T, p.(Arg218Cys)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957402C>T"	""	"pathogenic"	"ACMG"
"0000843181"	"11"	"90"	"11"	"61727000"	"61727000"	"subst"	"0"	"00000"	"BEST1_000142"	"g.61727000G>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.898G>A, p.(Glu300Lys)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959528G>A"	""	"pathogenic"	"ACMG"
"0000843182"	"21"	"90"	"11"	"61727000"	"61727000"	"subst"	"0"	"00000"	"BEST1_000142"	"g.61727000G>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.898G>A, p.(Glu300Lys)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959528G>A"	""	"pathogenic"	"ACMG"
"0000843183"	"0"	"90"	"11"	"61727000"	"61727000"	"subst"	"0"	"00000"	"BEST1_000142"	"g.61727000G>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.898G>A, p.(Glu300Lys)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959528G>A"	""	"pathogenic"	"ACMG"
"0000843184"	"10"	"90"	"11"	"61719418"	"61719418"	"subst"	"1.62631E-5"	"00000"	"BEST1_000196"	"g.61719418G>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.140G>A, p.(Arg47His)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951946G>A"	""	"pathogenic"	"ACMG"
"0000843185"	"21"	"90"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.584C>T, p.(Ala195Val)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956946C>T"	""	"pathogenic"	"ACMG"
"0000843186"	"11"	"70"	"11"	"61725746"	"61725746"	"subst"	"0"	"00000"	"BEST1_000432"	"g.61725746C>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.843C>A, p.(Phe281Leu)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958274C>A"	""	"likely pathogenic"	"ACMG"
"0000843187"	"21"	"90"	"11"	"61723331"	"61723331"	"subst"	"0"	"00000"	"BEST1_000362"	"g.61723331G>T"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.389G>T, p.(Arg130Leu)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955859G>T"	""	"pathogenic"	"ACMG"
"0000843188"	"11"	"70"	"11"	"61724333"	"61724333"	"subst"	"0"	"00000"	"BEST1_000424"	"g.61724333G>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.499G>A, p.(Glu167Lys)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956861G>A"	""	"likely pathogenic"	"ACMG"
"0000843189"	"21"	"90"	"11"	"61723331"	"61723331"	"subst"	"0"	"00000"	"BEST1_000362"	"g.61723331G>T"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.389G>T, p.(Arg130Leu)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955859G>T"	""	"pathogenic"	"ACMG"
"0000843190"	"11"	"70"	"11"	"61724333"	"61724333"	"subst"	"0"	"00000"	"BEST1_000424"	"g.61724333G>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.499G>A, p.(Glu167Lys)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956861G>A"	""	"likely pathogenic"	"ACMG"
"0000843191"	"21"	"70"	"11"	"61722650"	"61722650"	"subst"	"0"	"00000"	"BEST1_000400"	"g.61722650T>C"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.224T>C, p.(Leu75Pro)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955178T>C"	""	"likely pathogenic"	"ACMG"
"0000843192"	"21"	"70"	"11"	"61722650"	"61722650"	"subst"	"0"	"00000"	"BEST1_000400"	"g.61722650T>C"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.224T>C, p.(Leu75Pro)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955178T>C"	""	"likely pathogenic"	"ACMG"
"0000843193"	"21"	"70"	"11"	"61722650"	"61722650"	"subst"	"0"	"00000"	"BEST1_000400"	"g.61722650T>C"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.224T>C, p.(Leu75Pro)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955178T>C"	""	"likely pathogenic"	"ACMG"
"0000843194"	"0"	"70"	"11"	"61722650"	"61722650"	"subst"	"0"	"00000"	"BEST1_000400"	"g.61722650T>C"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.224T>C, p.(Leu75Pro)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955178T>C"	""	"likely pathogenic"	"ACMG"
"0000843195"	"21"	"90"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.584C>T, p.(Ala195Val)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956946C>T"	""	"pathogenic"	"ACMG"
"0000843196"	"11"	"90"	"11"	"61724438"	"61724438"	"subst"	"1.21889E-5"	"00000"	"BEST1_000075"	"g.61724438C>T"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.604C>T, p.(Arg202Trp)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956966C>T"	""	"pathogenic"	"ACMG"
"0000843197"	"0"	"90"	"11"	"61724438"	"61724438"	"subst"	"1.21889E-5"	"00000"	"BEST1_000075"	"g.61724438C>T"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.604C>T, p.(Arg202Trp)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61956966C>T"	""	"pathogenic"	"ACMG"
"0000843198"	"0"	"90"	"11"	"61726986"	"61726986"	"subst"	"0"	"00000"	"BEST1_000191"	"g.61726986T>C"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.884T>C, p.(Ile295Thr)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959514T>C"	""	"pathogenic"	"ACMG"
"0000843199"	"0"	"90"	"11"	"61724920"	"61724920"	"subst"	"0"	"00000"	"BEST1_000163"	"g.61724920C>T"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.698C>T, p.(Pro233Leu)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957448C>T"	""	"pathogenic"	"ACMG"
"0000843200"	"21"	"90"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.652C>T, p.(Arg218Cys)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957402C>T"	""	"pathogenic"	"ACMG"
"0000843201"	"11"	"90"	"11"	"61719283"	"61719283"	"subst"	"0"	"00000"	"BEST1_000381"	"g.61719283C>G"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.5C>G, p.(Thr2Ser)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951811C>G"	""	"pathogenic"	"ACMG"
"0000843202"	"11"	"90"	"11"	"61719283"	"61719283"	"subst"	"0"	"00000"	"BEST1_000381"	"g.61719283C>G"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.5C>G, p.(Thr2Ser)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951811C>G"	""	"pathogenic"	"ACMG"
"0000843203"	"0"	"90"	"11"	"61719283"	"61719283"	"subst"	"0"	"00000"	"BEST1_000381"	"g.61719283C>G"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.5C>G, p.(Thr2Ser)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951811C>G"	""	"pathogenic"	"ACMG"
"0000843204"	"11"	"90"	"11"	"61727452"	"61727452"	"subst"	"5.35257E-5"	"00000"	"BEST1_000064"	"g.61727452C>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.1037C>A, p.(Pro346His)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959980C>A"	""	"pathogenic"	"ACMG"
"0000843205"	"0"	"90"	"11"	"61727452"	"61727452"	"subst"	"5.35257E-5"	"00000"	"BEST1_000064"	"g.61727452C>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.1037C>A, p.(Pro346His)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959980C>A"	""	"pathogenic"	"ACMG"
"0000843206"	"0"	"70"	"11"	"61723358"	"61723358"	"subst"	"0"	"00000"	"BEST1_000418"	"g.61723358T>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.416T>A, p.(Ile139Asn)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955886T>A"	""	"likely pathogenic"	"ACMG"
"0000843207"	"11"	"90"	"11"	"61723288"	"61723297"	"dup"	"0"	"00000"	"BEST1_000413"	"g.61723288_61723297dup"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.346_355dup, p.(Glu119Glyfs*116)"	"annotation should indicate first changed amino acid: p.Glu119Glyfs*116 and not p.Glu115Glufs*120, nucleotide: c.346_355dup and not c.345_346insGGCAAGGACG; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955816_61955825dup"	""	"pathogenic"	"ACMG"
"0000843208"	"21"	"90"	"11"	"61725666"	"61725666"	"subst"	"5.27893E-5"	"00000"	"BEST1_000063"	"g.61725666C>T"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.763C>T, p.(Arg255Trp)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958194C>T"	""	"pathogenic"	"ACMG"
"0000843209"	"0"	"90"	"11"	"61719283"	"61719283"	"subst"	"0"	"00000"	"BEST1_000381"	"g.61719283C>G"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.5C>G, p.(Thr2Ser)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951811C>G"	""	"pathogenic"	"ACMG"
"0000843210"	"0"	"90"	"11"	"61719283"	"61719283"	"subst"	"0"	"00000"	"BEST1_000381"	"g.61719283C>G"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.5C>G, p.(Thr2Ser)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951811C>G"	""	"pathogenic"	"ACMG"
"0000843211"	"3"	"70"	"11"	"61725670"	"61725670"	"subst"	"4.06065E-6"	"00000"	"BEST1_000430"	"g.61725670A>G"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.767A>G, p.(Gln256Arg)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958198A>G"	""	"likely pathogenic"	"ACMG"
"0000843212"	"21"	"70"	"11"	"61719424"	"61719424"	"subst"	"0"	"00000"	"BEST1_000393"	"g.61719424T>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.146T>A, p.(Ile49Asn)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951952T>A"	""	"likely pathogenic"	""
"0000843213"	"0"	"70"	"11"	"61719424"	"61719424"	"subst"	"0"	"00000"	"BEST1_000393"	"g.61719424T>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.146T>A, p.(Ile49Asn)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951952T>A"	""	"likely pathogenic"	""
"0000843214"	"21"	"90"	"11"	"61727000"	"61727000"	"subst"	"0"	"00000"	"BEST1_000142"	"g.61727000G>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.898G>A, p.(Glu300Lys)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959528G>A"	""	"pathogenic"	"ACMG"
"0000843215"	"21"	"90"	"11"	"61727000"	"61727000"	"subst"	"0"	"00000"	"BEST1_000142"	"g.61727000G>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.898G>A, p.(Glu300Lys)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959528G>A"	""	"pathogenic"	"ACMG"
"0000843216"	"0"	"90"	"11"	"61727000"	"61727000"	"subst"	"0"	"00000"	"BEST1_000142"	"g.61727000G>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.898G>A, p.(Glu300Lys)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959528G>A"	""	"pathogenic"	"ACMG"
"0000843217"	"0"	"90"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.652C>T, p.(Arg218Cys)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957402C>T"	""	"pathogenic"	"ACMG"
"0000843218"	"21"	"90"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.653G>A, p.(Arg218His)"	"different transcipt: NM_001139443.1(BEST1):c.473G>A, p.Arg158His; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957403G>A"	""	"pathogenic"	"ACMG"
"0000843219"	"0"	"90"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"00000"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.653G>A, p.(Arg218His)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957403G>A"	""	"pathogenic"	"ACMG"
"0000843220"	"0"	"90"	"11"	"61722653"	"61722653"	"subst"	"0"	"00000"	"BEST1_000402"	"g.61722653T>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.227T>A, p.(Ile76Asn)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955181T>A"	""	"pathogenic"	"ACMG"
"0000843221"	"11"	"90"	"11"	"61723364"	"61723371"	"del"	"0"	"00000"	"BEST1_000420"	"g.61723364_61723371del"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.422_429del, p.(Arg141Glnfs*88)"	"annotation shoul be c.422_429del and not c.421_428delCGCAGCGT; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955892_61955899del"	""	"pathogenic"	"ACMG"
"0000843222"	"0"	"90"	"11"	"61723373"	"61723373"	"subst"	"0"	"00000"	"BEST1_000307"	"g.61723373G>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.431G>A, p.(Ser144Asn)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955901G>A"	""	"pathogenic"	"ACMG"
"0000843223"	"3"	"70"	"11"	"61719330"	"61719330"	"dup"	"0"	"00000"	"BEST1_000385"	"g.61719330dup"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.52dup, p.(Ser18Phefs*34)"	"error in annotation: insT should be dupT, amino acid annotation should be p.Ser18Phefs*34 and not p.Ser19Phefs153; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951858dup"	""	"likely pathogenic"	"ACMG"
"0000843224"	"21"	"70"	"11"	"61723234"	"61723234"	"subst"	"0"	"00000"	"BEST1_000071"	"g.61723234G>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.292G>A, p.(Glu98Lys)"	"different transcript: NM_001139443.1(BEST1):c.112G>A, p.Glu38Lys; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955762G>A"	""	"likely pathogenic"	"ACMG"
"0000843225"	"21"	"70"	"11"	"61723234"	"61723234"	"subst"	"0"	"00000"	"BEST1_000071"	"g.61723234G>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.292G>A, p.(Glu98Lys)"	"different transcript: NM_001139443.1(BEST1):c.112G>A, p.Glu38Lys; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955762G>A"	""	"likely pathogenic"	"ACMG"
"0000843226"	"11"	"70"	"11"	"61723234"	"61723234"	"subst"	"0"	"00000"	"BEST1_000071"	"g.61723234G>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.292G>A, p.(Glu98Lys)"	"different transcript: NM_001139443.1(BEST1):c.112G>A, p.Glu38Lys; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955762G>A"	""	"likely pathogenic"	"ACMG"
"0000843227"	"21"	"70"	"11"	"61723234"	"61723234"	"subst"	"0"	"00000"	"BEST1_000071"	"g.61723234G>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.292G>A, p.(Glu98Lys)"	"different transcript: NM_001139443.1(BEST1):c.112G>A, p.Glu38Lys; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955762G>A"	""	"likely pathogenic"	"ACMG"
"0000843228"	"0"	"70"	"11"	"61723234"	"61723234"	"subst"	"0"	"00000"	"BEST1_000071"	"g.61723234G>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.292G>A, p.(Glu98Lys)"	"different transcript: NM_001139443.1(BEST1):c.112G>A, p.Glu38Lys; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955762G>A"	""	"likely pathogenic"	"ACMG"
"0000843229"	"21"	"90"	"11"	"61727022"	"61727022"	"subst"	"0"	"00000"	"BEST1_000295"	"g.61727022C>T"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.920C>T, p.(Thr307Ile)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959550C>T"	""	"pathogenic"	"ACMG"
"0000843230"	"11"	"90"	"11"	"61727022"	"61727022"	"subst"	"0"	"00000"	"BEST1_000295"	"g.61727022C>T"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.920C>T, p.(Thr307Ile)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959550C>T"	""	"pathogenic"	"ACMG"
"0000843231"	"0"	"90"	"11"	"61727022"	"61727022"	"subst"	"0"	"00000"	"BEST1_000295"	"g.61727022C>T"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.920C>T, p.(Thr307Ile)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959550C>T"	""	"pathogenic"	"ACMG"
"0000843232"	"21"	"90"	"11"	"61727000"	"61727000"	"subst"	"0"	"00000"	"BEST1_000142"	"g.61727000G>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.898G>A, p.(Glu300Lys)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959528G>A"	""	"pathogenic"	"ACMG"
"0000843233"	"0"	"90"	"11"	"61727000"	"61727000"	"subst"	"0"	"00000"	"BEST1_000142"	"g.61727000G>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.898G>A, p.(Glu300Lys)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959528G>A"	""	"pathogenic"	"ACMG"
"0000843234"	"21"	"90"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.584C>T, p.(Ala195Val)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956946C>T"	""	"pathogenic"	"ACMG"
"0000843235"	"10"	"90"	"11"	"61727000"	"61727000"	"subst"	"0"	"00000"	"BEST1_000142"	"g.61727000G>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.898G>A, p.(Glu300Lys)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959528G>A"	""	"pathogenic"	"ACMG"
"0000843236"	"21"	"90"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.584C>T, p.(Ala195Val)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956946C>T"	""	"pathogenic"	"ACMG"
"0000843237"	"10"	"90"	"11"	"61727000"	"61727000"	"subst"	"0"	"00000"	"BEST1_000142"	"g.61727000G>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.898G>A, p.(Glu300Lys)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959528G>A"	""	"pathogenic"	"ACMG"
"0000843238"	"21"	"90"	"11"	"61727000"	"61727000"	"subst"	"0"	"00000"	"BEST1_000142"	"g.61727000G>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.898G>A, p.(Glu300Lys)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959528G>A"	""	"pathogenic"	"ACMG"
"0000843239"	"0"	"90"	"11"	"61727000"	"61727000"	"subst"	"0"	"00000"	"BEST1_000142"	"g.61727000G>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.898G>A, p.(Glu300Lys)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959528G>A"	""	"pathogenic"	"ACMG"
"0000843240"	"0"	"90"	"11"	"61727000"	"61727000"	"subst"	"0"	"00000"	"BEST1_000142"	"g.61727000G>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.898G>A, p.(Glu300Lys)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959528G>A"	""	"pathogenic"	"ACMG"
"0000843241"	"0"	"90"	"11"	"61727000"	"61727000"	"subst"	"0"	"00000"	"BEST1_000142"	"g.61727000G>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.898G>A, p.(Glu300Lys)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959528G>A"	""	"pathogenic"	"ACMG"
"0000843242"	"0"	"90"	"11"	"61727000"	"61727000"	"subst"	"0"	"00000"	"BEST1_000142"	"g.61727000G>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.898G>A, p.(Glu300Lys)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959528G>A"	""	"pathogenic"	"ACMG"
"0000843243"	"0"	"90"	"11"	"61727000"	"61727000"	"subst"	"0"	"00000"	"BEST1_000142"	"g.61727000G>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.898G>A, p.(Glu300Lys)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959528G>A"	""	"pathogenic"	"ACMG"
"0000843244"	"0"	"90"	"11"	"61719283"	"61719283"	"subst"	"0"	"00000"	"BEST1_000381"	"g.61719283C>G"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.5C>G, p.(Thr2Ser)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951811C>G"	""	"pathogenic"	"ACMG"
"0000843245"	"3"	"90"	"11"	"61719316"	"61719316"	"subst"	"1.21997E-5"	"00000"	"BEST1_000246"	"g.61719316G>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.38G>A, p.(Arg13His)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951844G>A"	""	"pathogenic"	"ACMG"
"0000843246"	"21"	"90"	"11"	"61727005"	"61727005"	"subst"	"0"	"00000"	"BEST1_000127"	"g.61727005T>G"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.903T>G, p.(Asp301Glu)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959533T>G"	""	"pathogenic"	"ACMG"
"0000843247"	"11"	"90"	"11"	"61727005"	"61727005"	"subst"	"0"	"00000"	"BEST1_000127"	"g.61727005T>G"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.903T>G, p.(Asp301Glu)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959533T>G"	""	"pathogenic"	"ACMG"
"0000843248"	"0"	"90"	"11"	"61727005"	"61727005"	"subst"	"0"	"00000"	"BEST1_000127"	"g.61727005T>G"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.903T>G, p.(Asp301Glu)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959533T>G"	""	"pathogenic"	"ACMG"
"0000843249"	"0"	"90"	"11"	"61727000"	"61727000"	"subst"	"0"	"00000"	"BEST1_000142"	"g.61727000G>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.898G>A, p.(Glu300Lys)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959528G>A"	""	"pathogenic"	"ACMG"
"0000843250"	"0"	"90"	"11"	"61722667"	"61722667"	"subst"	"0"	"00000"	"BEST1_000304"	"g.61722667G>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.241G>A, p.(Val81Met)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955195G>A"	""	"pathogenic"	"ACMG"
"0000843251"	"0"	"90"	"11"	"61722667"	"61722667"	"subst"	"0"	"00000"	"BEST1_000407"	"g.61722667G>T"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.241G>T, p.(Val81Leu)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955195G>T"	""	"pathogenic"	"ACMG"
"0000843252"	"0"	"90"	"11"	"61727005"	"61727005"	"subst"	"0"	"00000"	"BEST1_000127"	"g.61727005T>G"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.903T>G, p.(Asp301Glu)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959533T>G"	""	"pathogenic"	"ACMG"
"0000843253"	"11"	"90"	"11"	"61727000"	"61727000"	"subst"	"0"	"00000"	"BEST1_000142"	"g.61727000G>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.898G>A, p.(Glu300Lys)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959528G>A"	""	"pathogenic"	"ACMG"
"0000843254"	"0"	"90"	"11"	"61727000"	"61727000"	"subst"	"0"	"00000"	"BEST1_000142"	"g.61727000G>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.898G>A, p.(Glu300Lys)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959528G>A"	""	"pathogenic"	"ACMG"
"0000843255"	"0"	"90"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.652C>T, p.(Arg218Cys)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957402C>T"	""	"pathogenic"	"ACMG"
"0000843256"	"0"	"90"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.652C>T, p.(Arg218Cys)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957402C>T"	""	"pathogenic"	"ACMG"
"0000843257"	"21"	"90"	"11"	"61726990"	"61726990"	"subst"	"0"	"00000"	"BEST1_000110"	"g.61726990C>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.888C>A, p.(Asn296Lys)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959518C>A"	""	"pathogenic"	"ACMG"
"0000843258"	"0"	"90"	"11"	"61726990"	"61726990"	"subst"	"0"	"00000"	"BEST1_000110"	"g.61726990C>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.888C>A, p.(Asn296Lys)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959518C>A"	""	"pathogenic"	"ACMG"
"0000843259"	"0"	"90"	"11"	"61719316"	"61719316"	"subst"	"1.21997E-5"	"00000"	"BEST1_000246"	"g.61719316G>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.38G>A, p.(Arg13His)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951844G>A"	""	"pathogenic"	"ACMG"
"0000843260"	"0"	"90"	"11"	"61724438"	"61724438"	"subst"	"1.21889E-5"	"00000"	"BEST1_000075"	"g.61724438C>T"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.604C>T, p.(Arg202Trp)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61956966C>T"	""	"pathogenic"	"ACMG"
"0000843261"	"10"	"70"	"11"	"61726988"	"61726988"	"subst"	"0"	"00000"	"BEST1_000159"	"g.61726988A>G"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.886A>G, p.(Asn296Asp)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959516A>G"	""	"likely pathogenic"	"ACMG"
"0000843262"	"0"	"90"	"11"	"61727000"	"61727000"	"subst"	"0"	"00000"	"BEST1_000142"	"g.61727000G>A"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.898G>A, p.(Glu300Lys)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959528G>A"	""	"pathogenic"	"ACMG"
"0000843263"	"20"	"70"	"11"	"61723229"	"61723229"	"subst"	"0"	"00000"	"BEST1_000238"	"g.61723229A>T"	""	"{PMID:Gao 2019:31519547}"	""	"BEST1 c.287A>T, p.(Gln96Leu)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955757A>T"	""	"likely pathogenic"	"ACMG"
"0000843334"	"0"	"70"	"11"	"61719283"	"61719283"	"subst"	"0"	"00000"	"BEST1_000382"	"g.61719283C>T"	"0"	"{PMID:Frecer 2019:31570112}"	""	"BEST1 c.5C>T, p.(Thr2Ile)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951811C>T"	""	"likely pathogenic"	"ACMG"
"0000843335"	"0"	"70"	"11"	"61719289"	"61719289"	"subst"	"0"	"00000"	"BEST1_000207"	"g.61719289C>T"	"0"	"{PMID:Frecer 2019:31570112}"	""	"BEST1 c.11C>T, p.(Thr4Ile)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951817C>T"	""	"likely pathogenic"	"ACMG"
"0000843336"	"0"	"70"	"11"	"61719289"	"61719289"	"subst"	"0"	"00000"	"BEST1_000207"	"g.61719289C>T"	"0"	"{PMID:Frecer 2019:31570112}"	""	"BEST1 c.11C>T, p.(Thr4Ile)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951817C>T"	""	"likely pathogenic"	"ACMG"
"0000843337"	"0"	"70"	"11"	"61719304"	"61719304"	"subst"	"0"	"00000"	"BEST1_000383"	"g.61719304T>G"	"0"	"{PMID:Frecer 2019:31570112}"	""	"BEST1 c.26T>G, p.(Val9Gly)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951832T>G"	"SCV000599452"	"likely pathogenic"	"ACMG"
"0000843338"	"0"	"70"	"11"	"61719322"	"61719322"	"subst"	"0"	"00000"	"BEST1_000221"	"g.61719322G>A"	"0"	"{PMID:Frecer 2019:31570112}"	""	"BEST1 c.44G>A, p.(Gly15Asp)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951850G>A"	""	"likely pathogenic"	"ACMG"
"0000843339"	"0"	"70"	"11"	"61719322"	"61719322"	"subst"	"0"	"00000"	"BEST1_000221"	"g.61719322G>A"	"0"	"{PMID:Frecer 2019:31570112}"	""	"BEST1 c.44G>A, p.(Gly15Asp)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951850G>A"	""	"likely pathogenic"	"ACMG"
"0000843340"	"0"	"70"	"11"	"61719322"	"61719322"	"subst"	"0"	"00000"	"BEST1_000221"	"g.61719322G>A"	"0"	"{PMID:Frecer 2019:31570112}"	""	"BEST1 c.44G>A, p.(Gly15Asp)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951850G>A"	""	"likely pathogenic"	"ACMG"
"0000843341"	"0"	"70"	"11"	"61719325"	"61719325"	"subst"	"0"	"00000"	"BEST1_000169"	"g.61719325C>T"	"0"	"{PMID:Frecer 2019:31570112}"	""	"BEST1 c.47C>T, p.(Ser16Phe)"	"heterozygous"	"Germline"	"yes"	"rs281865210"	"0"	""	""	"g.61951853C>T"	""	"likely pathogenic"	"ACMG"
"0000843342"	"0"	"70"	"11"	"61719352"	"61719352"	"subst"	"0"	"00000"	"BEST1_000043"	"g.61719352G>A"	"A= 0.000008"	"{PMID:Frecer 2019:31570112}"	""	"BEST1 c.74G>A, p.(Arg25Gln)"	"heterozygous"	"Unknown"	"?"	"rs281865215"	"0"	""	""	"g.61951880G>A"	""	"likely pathogenic"	"ACMG"
"0000843343"	"0"	"70"	"11"	"61719358"	"61719358"	"subst"	"0"	"00000"	"BEST1_000147"	"g.61719358G>C"	"0"	"{PMID:Frecer 2019:31570112}"	""	"BEST1 c.80G>C, p.(Ser27Thr)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951886G>C"	""	"likely pathogenic"	"ACMG"
"0000843344"	"0"	"70"	"11"	"61719358"	"61719358"	"subst"	"0"	"00000"	"BEST1_000147"	"g.61719358G>C"	"0"	"{PMID:Frecer 2019:31570112}"	""	"BEST1 c.80G>C, p.(Ser27Thr)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951886G>C"	""	"likely pathogenic"	"ACMG"
"0000843345"	"0"	"70"	"11"	"61719358"	"61719358"	"subst"	"0"	"00000"	"BEST1_000147"	"g.61719358G>C"	"0"	"{PMID:Frecer 2019:31570112}"	""	"BEST1 c.80G>C, p.(Ser27Thr)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951886G>C"	""	"likely pathogenic"	"ACMG"
"0000843346"	"0"	"70"	"11"	"61719364"	"61719364"	"subst"	"0"	"00000"	"BEST1_000156"	"g.61719364A>G"	"0"	"{PMID:Frecer 2019:31570112}"	""	"BEST1 c.86A>G, p.(Tyr29Cys)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951892A>G"	""	"likely pathogenic"	"ACMG"
"0000843347"	"0"	"90"	"11"	"61723216"	"61723216"	"subst"	"0"	"00000"	"BEST1_000258"	"g.61723216C>T"	"0"	"{PMID:Frecer 2019:31570112}"	""	"BEST1 c.274C>T, p.(Arg92Cys)"	"homozygous"	"Unknown"	"?"	"rs281865224"	"0"	""	""	"g.61955744C>T"	""	"pathogenic"	"ACMG"
"0000843348"	"0"	"70"	"11"	"61723220"	"61723220"	"subst"	"0"	"00000"	"BEST1_000408"	"g.61723220G>C"	"0"	"{PMID:Frecer 2019:31570112}"	""	"BEST1 c.278G>C, p.(Trp93Ser)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955748G>C"	""	"likely pathogenic"	"ACMG"
"0000843349"	"0"	"70"	"11"	"61723243"	"61723243"	"subst"	"0"	"00000"	"BEST1_000187"	"g.61723243C>A"	"0"	"{PMID:Frecer 2019:31570112}"	""	"BEST1 c.301C>A, p.(Pro101Thr)"	"heterozygous"	"Germline"	"yes"	"rs281865229"	"0"	""	""	"g.61955771C>A"	""	"likely pathogenic"	"ACMG"
"0000843350"	"0"	"50"	"11"	"61723266"	"61723266"	"subst"	"0"	"00000"	"BEST1_000103"	"g.61723266C>G"	"0"	"{PMID:Frecer 2019:31570112}"	""	"BEST1 c.324C>G, p.(Ser108Arg)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955794C>G"	"SCV000747137"	"VUS"	"ACMG"
"0000843351"	"0"	"70"	"11"	"61724369"	"61724369"	"subst"	"0"	"00000"	"BEST1_000425"	"g.61724369A>G"	"0"	"{PMID:Frecer 2019:31570112}"	""	"BEST1 c.535A>G, p.(Asn179Asp)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61956897A>G"	"SCV000599453"	"likely pathogenic"	"ACMG"
"0000843352"	"0"	"50"	"11"	"61724378"	"61724378"	"subst"	"0"	"00000"	"BEST1_000426"	"g.61724378T>C"	"0"	"{PMID:Frecer 2019:31570112}"	""	"BEST1 c.544T>C, p.(Trp182Arg)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61956906T>C"	"SCV000747139"	"VUS"	"ACMG"
"0000843353"	"0"	"90"	"11"	"61724432"	"61724432"	"subst"	"1.21878E-5"	"00000"	"BEST1_000311"	"g.61724432C>T"	"T= 0.00002/3"	"{PMID:Frecer 2019:31570112}"	""	"BEST1 c.598C>T, p.(Arg200*)"	"heterozygous"	"Germline"	"yes"	"rs121918286"	"0"	""	""	"g.61956960C>T"	""	"pathogenic"	"ACMG"
"0000843354"	"0"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000370"	"g.61725631C>A"	"0"	"{PMID:Frecer 2019:31570112}"	""	"BEST1 c.728C>A, p.(Ala243Glu)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958159C>A"	""	"likely pathogenic"	"ACMG"
"0000843355"	"0"	"90"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	"0"	"{PMID:Frecer 2019:31570112}"	""	"BEST1 c.652C>T, p.(Arg218Cys)"	"heterozygous"	"Germline"	"yes"	"rs281865238"	"0"	""	""	"g.61957402C>T"	""	"pathogenic"	"ACMG"
"0000843356"	"0"	"90"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	"0"	"{PMID:Frecer 2019:31570112}"	""	"BEST1 c.652C>T, p.(Arg218Cys)"	"heterozygous"	"Unknown"	"?"	"rs281865238"	"0"	""	""	"g.61957402C>T"	""	"pathogenic"	"ACMG"
"0000843357"	"0"	"90"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	"0"	"{PMID:Frecer 2019:31570112}"	""	"BEST1 c.652C>T, p.(Arg218Cys)"	"heterozygous"	"Unknown"	"?"	"rs281865238"	"0"	""	""	"g.61957402C>T"	""	"pathogenic"	"ACMG"
"0000843358"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000162"	"g.61724874C>A"	"0"	"{PMID:Frecer 2019:31570112}"	""	"BEST1 c.652C>A, p.(Arg218Ser)"	"heterozygous"	"Unknown"	"?"	"rs281865238"	"0"	""	""	"g.61957402C>A"	""	"likely pathogenic"	"ACMG"
"0000843359"	"0"	"70"	"11"	"61724917"	"61724917"	"subst"	"0"	"00000"	"BEST1_000275"	"g.61724917T>A"	"0"	"{PMID:Frecer 2019:31570112}"	""	"BEST1 c.695T>A, p.(Ile232Asn)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957445T>A"	""	"likely pathogenic"	"ACMG"
"0000843360"	"0"	"70"	"11"	"61724925"	"61724925"	"subst"	"0"	"00000"	"BEST1_000107"	"g.61724925G>T"	"0"	"{PMID:Frecer 2019:31570112}"	""	"BEST1 c.703G>T, p.(Val235Leu)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957453G>T"	""	"likely pathogenic"	"ACMG"
"0000843361"	"0"	"90"	"11"	"61725630"	"61725630"	"subst"	"0"	"00000"	"BEST1_000175"	"g.61725630G>A"	"0"	"{PMID:Frecer 2019:31570112}"	""	"BEST1 c.727G>A, p.(Ala243Thr)"	"heterozygous"	"Germline"	"yes"	"rs137853905"	"0"	""	""	"g.61958158G>A"	""	"pathogenic"	"ACMG"
"0000843362"	"0"	"90"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	"T= 0.000008/1"	"{PMID:Frecer 2019:31570112}"	""	"BEST1 c.728C>T, p.(Ala243Val)"	"heterozygous"	"Unknown"	"?"	"rs28940570"	"0"	""	""	"g.61958159C>T"	""	"pathogenic"	"ACMG"
"0000843363"	"0"	"90"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	"T= 0.000008/1"	"{PMID:Frecer 2019:31570112}"	""	"BEST1 c.728C>T, p.(Ala243Val)"	"heterozygous"	"Germline"	"yes"	"rs28940570"	"0"	""	""	"g.61958159C>T"	""	"pathogenic"	"ACMG"
"0000843364"	"0"	"90"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	"T= 0.000008/1"	"{PMID:Frecer 2019:31570112}"	""	"BEST1 c.728C>T, p.(Ala243Val)"	"heterozygous"	"Germline"	"yes"	"rs28940570"	"0"	""	""	"g.61958159C>T"	""	"pathogenic"	"ACMG"
"0000843365"	"0"	"70"	"11"	"61726976"	"61726976"	"subst"	"0"	"00000"	"BEST1_000434"	"g.61726976G>C"	"0"	"{PMID:Frecer 2019:31570112}"	""	"BEST1 c.874G>C, p.(Glu292Gln)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959504G>C"	"SCV000747140"	"likely pathogenic"	"ACMG"
"0000843366"	"0"	"90"	"11"	"61726990"	"61726990"	"subst"	"0"	"00000"	"BEST1_000435"	"g.61726990C>G"	"0"	"{PMID:Frecer 2019:31570112}"	""	"BEST1 c.888C>G, p.(Asn296Lys)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959518C>G"	"SCV000802932"	"pathogenic"	"ACMG"
"0000843367"	"0"	"90"	"11"	"61726990"	"61726990"	"subst"	"0"	"00000"	"BEST1_000110"	"g.61726990C>A"	"0"	"{PMID:Frecer 2019:31570112}"	""	"BEST1 c.888C>A, p.(Asn296Lys)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959518C>A"	""	"pathogenic"	"ACMG"
"0000843368"	"0"	"70"	"11"	"61726995"	"61726995"	"subst"	"0"	"00000"	"BEST1_000192"	"g.61726995T>G"	"0"	"{PMID:Frecer 2019:31570112}"	""	"BEST1 c.893T>G, p.(Phe298Cys)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959523T>G"	""	"likely pathogenic"	"ACMG"
"0000843369"	"0"	"70"	"11"	"61726995"	"61726995"	"subst"	"0"	"00000"	"BEST1_000192"	"g.61726995T>G"	"0"	"{PMID:Frecer 2019:31570112}"	""	"BEST1 c.893T>G, p.(Phe298Cys)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959523T>G"	""	"likely pathogenic"	"ACMG"
"0000843370"	"0"	"90"	"11"	"61727005"	"61727005"	"subst"	"0"	"00000"	"BEST1_000127"	"g.61727005T>G"	"0"	"{PMID:Frecer 2019:31570112}"	""	"BEST1 c.903T>G, p.(Asp301Glu)"	"heterozygous"	"Germline"	"yes"	"rs281865261"	"0"	""	""	"g.61959533T>G"	""	"pathogenic"	"ACMG"
"0000843379"	"0"	"70"	"11"	"61724448"	"61724448"	"subst"	"0"	"00000"	"BEST1_000312"	"g.61724448T>C"	"0"	"{PMID:Kopsidas 2019:31762771}"	""	"BEST1  I205T"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.61956976T>C"	""	"likely pathogenic"	"ACMG"
"0000843399"	"10"	"70"	"11"	"61719279"	"61719279"	"subst"	"0"	"00000"	"BEST1_000450"	"g.61719279A>G"	"0"	"{PMID:Shi 2020:32646389}"	""	"BEST1 c.1 A > G, p.M1V"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951807A>G"	""	"likely pathogenic"	""
"0000843400"	"0"	"70"	"11"	"61723229"	"61723229"	"subst"	"0"	"00000"	"BEST1_000070"	"g.61723229A>G"	"0"	"{PMID:Hwan Lee 2020:32882766}"	""	"BEST1 c.287A>G, Gln96Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955757A>G"	""	"likely pathogenic"	""
"0000843401"	"1"	"70"	"11"	"61719397"	"61719397"	"subst"	"0"	"00000"	"BEST1_000358"	"g.61719397T>C"	"0"	"{PMID:Hwan Lee 2020:32882766}"	""	"BEST1 c.119T>C, Leu40Pro"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951925T>C"	""	"likely pathogenic"	""
"0000843402"	"2"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	"0"	"{PMID:Hwan Lee 2020:32882766}"	""	"BEST1 c.584C>T, Ala195Val"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic"	""
"0000843413"	"3"	"70"	"11"	"61719369"	"61719369"	"subst"	"0"	"00000"	"BEST1_000391"	"g.61719369C>A"	""	"{PMID:Habibi 2019:31766397}"	""	"BEST1 p.(L31M)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951897C>A"	""	"likely pathogenic"	""
"0000843414"	"0"	"70"	"11"	"61719369"	"61719369"	"subst"	"0"	"00000"	"BEST1_000391"	"g.61719369C>A"	""	"{PMID:Habibi 2019:31766397}"	""	"BEST1 p.(L31M)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951897C>A"	""	"likely pathogenic"	""
"0000843415"	"21"	"70"	"11"	"61719369"	"61719369"	"subst"	"0"	"00000"	"BEST1_000391"	"g.61719369C>A"	""	"{PMID:Habibi 2019:31766397}"	""	"BEST1 p.(L31M)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951897C>A"	""	"likely pathogenic"	""
"0000843416"	"21"	"70"	"11"	"61719369"	"61719369"	"subst"	"0"	"00000"	"BEST1_000391"	"g.61719369C>A"	""	"{PMID:Habibi 2019:31766397}"	""	"BEST1 p.(L31M)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951897C>A"	""	"likely pathogenic"	""
"0000843417"	"21"	"70"	"11"	"61719369"	"61719369"	"subst"	"0"	"00000"	"BEST1_000391"	"g.61719369C>A"	""	"{PMID:Habibi 2019:31766397}"	""	"BEST1 p.(L31M)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951897C>A"	""	"likely pathogenic"	""
"0000843418"	"21"	"70"	"11"	"61719369"	"61719369"	"subst"	"0"	"00000"	"BEST1_000391"	"g.61719369C>A"	""	"{PMID:Habibi 2019:31766397}"	""	"BEST1 p.(L31M)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951897C>A"	""	"likely pathogenic"	""
"0000843419"	"3"	"70"	"11"	"61719381"	"61719381"	"subst"	"0"	"00000"	"BEST1_000132"	"g.61719381G>A"	""	"{PMID:Habibi 2019:31766397}"	""	"BEST1 p.(E35K)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951909G>A"	""	"likely pathogenic"	""
"0000843420"	"10"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Habibi 2019:31766397}"	""	"BEST1 p.(R141H)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic"	""
"0000843421"	"21"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Habibi 2019:31766397}"	""	"BEST1 p.(A195V)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic"	""
"0000843422"	"3"	"70"	"11"	"61724438"	"61724438"	"subst"	"1.21889E-5"	"00000"	"BEST1_000075"	"g.61724438C>T"	""	"{PMID:Habibi 2019:31766397}"	""	"BEST1 p.(R202W)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956966C>T"	""	"likely pathogenic"	""
"0000843423"	"3"	"70"	"11"	"61724880"	"61724880"	"subst"	"8.1213E-6"	"00000"	"BEST1_000227"	"g.61724880C>T"	""	"{PMID:Habibi 2019:31766397}"	""	"BEST1 p.(Q220*)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61957408C>T"	""	"likely pathogenic"	""
"0000843424"	"3"	"70"	"11"	"61724334"	"61724334"	"subst"	"0"	"00000"	"BEST1_000364"	"g.61724334A>G"	""	"{PMID:Habibi 2019:31766397}"	""	"BEST1 p.(E167G)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956862A>G"	""	"likely pathogenic"	""
"0000843425"	"3"	"70"	"11"	"61724334"	"61724334"	"subst"	"0"	"00000"	"BEST1_000364"	"g.61724334A>G"	""	"{PMID:Habibi 2019:31766397}"	""	"BEST1 p.(E167G)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956862A>G"	""	"likely pathogenic"	""
"0000843472"	"0"	"90"	"11"	"61726988"	"61726988"	"subst"	"0"	"00000"	"BEST1_000282"	"g.61726988A>C"	""	"{PMID:Bonilha 2020:33154968}"	""	"BEST1 c.886A > C (p.Asn296His)"	"retina post-mortem donors; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959516A>C"	""	"pathogenic"	""
"0000843473"	"0"	"90"	"11"	"61724436"	"61724436"	"subst"	"6.50042E-5"	"00000"	"BEST1_000212"	"g.61724436T>C"	""	"{PMID:Bonilha 2020:33154968}"	""	"BEST1 c.602T > C (p.Ile201Thr)"	"retina post-mortem donors; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61956964T>C"	""	"pathogenic"	""
"0000843476"	"11"	"90"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Hufendiek 2020:33302512}"	""	"BEST1 c.102C>T, p.Gly34Gly"	"heterozygous; father, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956946C>T"	""	"pathogenic"	"ACMG"
"0000843477"	"20"	"90"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Hufendiek 2020:33302512}"	""	"BEST1 c.102C>T, p.Gly34Gly"	"heterozygous; mother not available"	"Germline"	"yes"	""	"0"	""	""	"g.61955892G>A"	""	"pathogenic"	"ACMG"
"0000843478"	"1"	"90"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Hufendiek 2020:33302512}"	""	"BEST1 c.102C>T, p.Gly34Gly"	"heterozygous; parents not available"	"Unknown"	"?"	""	"0"	""	""	"g.61955892G>A"	""	"pathogenic"	"ACMG"
"0000843479"	"1"	"70"	"11"	"61723342"	"61723342"	"subst"	"3.4905E-5"	"00000"	"BEST1_000209"	"g.61723342C>G"	""	"{PMID:Hufendiek 2020:33302512}"	""	"BEST1 c.102C>T, p.Gly34Gly"	"heterozygous; sister heterozygous #12; parents not available"	"Germline"	"yes"	""	"0"	""	""	"g.61955870C>G"	""	"likely pathogenic"	"ACMG"
"0000843480"	"1"	"90"	"11"	"61724424"	"61724449"	"del"	"0"	"00000"	"BEST1_000427"	"g.61724424_61724449del"	""	"{PMID:Hufendiek 2020:33302512}"	""	"BEST1 c.102C>T, p.Gly34Gly"	"sister heterozygous #6; parents not available"	"Germline"	"yes"	""	"0"	""	""	"g.61956952_61956977del"	""	"pathogenic"	"ACMG"
"0000843481"	"1"	"90"	"11"	"61724424"	"61724449"	"del"	"0"	"00000"	"BEST1_000427"	"g.61724424_61724449del"	""	"{PMID:Hufendiek 2020:33302512}"	""	"BEST1 c.102C>T, p.Gly34Gly"	"sister heterozygous #5; parents not available"	"Germline"	"yes"	""	"0"	""	""	"g.61956952_61956977del"	""	"pathogenic"	"ACMG"
"0000843482"	"3"	"70"	"11"	"61724454"	"61724454"	"subst"	"0"	"00000"	"BEST1_000105"	"g.61724454T>A"	""	"{PMID:Hufendiek 2020:33302512}"	""	"BEST1 c.102C>T, p.Gly34Gly"	"homozygous; mother and father heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956982T>A"	""	"likely pathogenic"	"ACMG"
"0000843483"	"3"	"70"	"11"	"61723229"	"61723240"	"del"	"0"	"00000"	"BEST1_000223"	"g.61723229_61723240del"	""	"{PMID:Hufendiek 2020:33302512}"	""	"BEST1 c.102C>T, p.Gly34Gly"	"homozygous; parents not available"	"Unknown"	"?"	""	"0"	""	""	"g.61955757_61955768del"	""	"likely pathogenic"	"ACMG"
"0000843484"	"21"	"70"	"11"	"61723294"	"61723294"	"subst"	"0"	"00000"	"BEST1_000218"	"g.61723294G>C"	""	"{PMID:Hufendiek 2020:33302512}"	""	"BEST1 c.102C>T, p.Gly34Gly"	"heterozygous; mother, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955822G>C"	""	"likely pathogenic"	"ACMG"
"0000843485"	"21"	"70"	"11"	"61723342"	"61723342"	"subst"	"3.4905E-5"	"00000"	"BEST1_000209"	"g.61723342C>G"	""	"{PMID:Hufendiek 2020:33302512}"	""	"BEST1 c.102C>T, p.Gly34Gly"	"heterozygous; mother, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955870C>G"	""	"likely pathogenic"	"ACMG"
"0000843486"	"3"	"90"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Hufendiek 2020:33302512}"	""	"BEST1 c.102C>T, p.Gly34Gly"	"homozygous; parents not available"	"Unknown"	"?"	""	"0"	""	""	"g.61956946C>T"	""	"pathogenic"	"ACMG"
"0000843487"	"1"	"70"	"11"	"61723342"	"61723342"	"subst"	"3.4905E-5"	"00000"	"BEST1_000209"	"g.61723342C>G"	""	"{PMID:Hufendiek 2020:33302512}"	""	"BEST1 c.102C>T, p.Gly34Gly"	"sister heterozygous #4; parents not available"	"Germline"	"yes"	""	"0"	""	""	"g.61955870C>G"	""	"likely pathogenic"	"ACMG"
"0000843488"	"3"	"90"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Hufendiek 2020:33302512}"	""	"BEST1 c.102C>T, p.Gly34Gly"	"homozygous; father, heterozygous; mother not available"	"Germline"	"yes"	""	"0"	""	""	"g.61955892G>A"	""	"pathogenic"	"ACMG"
"0000843489"	"1"	"90"	"11"	"61723288"	"61723297"	"dup"	"0"	"00000"	"BEST1_000413"	"g.61723288_61723297dup"	""	"{PMID:Hufendiek 2020:33302512}"	""	"BEST1 c.102C>T, p.Gly34Gly"	"heterozygous; parents not available"	"Unknown"	"?"	""	"0"	""	""	"g.61955816_61955825dup"	""	"pathogenic"	"ACMG"
"0000843490"	"3"	"70"	"11"	"61719369"	"61719369"	"subst"	"0"	"00000"	"BEST1_000391"	"g.61719369C>A"	""	"{PMID:Hufendiek 2020:33302512}"	""	"BEST1 c.102C>T, p.Gly34Gly"	"homozygous; mother/father/sister/brother, heterozygous; uncle, homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951897C>A"	""	"likely pathogenic"	"ACMG"
"0000843491"	"1"	"90"	"11"	"61722625"	"61722626"	"del"	"0"	"00000"	"BEST1_000452"	"g.61722625_61722626del"	""	"{PMID:Hufendiek 2020:33302512}"	""	"BEST1 c.102C>T, p.Gly34Gly"	"heterozygous; brother #17; parents not available"	"Germline"	"yes"	""	"0"	""	""	"g.61955153_61955154del"	""	"pathogenic"	"ACMG"
"0000843492"	"1"	"90"	"11"	"61722625"	"61722626"	"del"	"0"	"00000"	"BEST1_000452"	"g.61722625_61722626del"	""	"{PMID:Hufendiek 2020:33302512}"	""	"BEST1 c.102C>T, p.Gly34Gly"	"heterozygous; brother #16; parents not available"	"Germline"	"yes"	""	"0"	""	""	"g.61955153_61955154del"	""	"pathogenic"	"ACMG"
"0000843493"	"1"	"70"	"11"	"61719418"	"61719418"	"subst"	"1.62631E-5"	"00000"	"BEST1_000196"	"g.61719418G>A"	""	"{PMID:Hufendiek 2020:33302512}"	""	"BEST1 c.102C>T, p.Gly34Gly"	"heterozygous; parents not available"	"Unknown"	"?"	""	"0"	""	""	"g.61951946G>A"	""	"likely pathogenic"	"ACMG"
"0000843494"	"21"	"70"	"11"	"61725733"	"61725733"	"subst"	"8.1215E-6"	"00000"	"BEST1_000165"	"g.61725733C>T"	""	"{PMID:Hufendiek 2020:33302512}"	""	"BEST1 c.102C>T, p.Gly34Gly"	"heterozygous; mother, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61958261C>T"	""	"likely pathogenic"	"ACMG"
"0000843495"	"11"	"70"	"11"	"61723396"	"61723396"	"subst"	"0"	"00000"	"BEST1_000457"	"g.61723396C>T"	""	"{PMID:Hufendiek 2020:33302512}"	""	"BEST1 c.102C>T, p.Gly34Gly"	"heterozygous; father/uncle heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955924C>T"	""	"likely pathogenic"	"ACMG"
"0000843496"	"2"	"90"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Hufendiek 2020:33302512}"	""	"BEST1 c.102C>T, p.Gly34Gly"	"heterozygous; parents not available"	"Unknown"	"?"	""	"0"	""	""	"g.61956946C>T"	""	"pathogenic"	"ACMG"
"0000843497"	"2"	"90"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Hufendiek 2020:33302512}"	""	"BEST1 c.102C>T, p.Gly34Gly"	"heterozygous; sister heterozygous #12; parents not available"	"Germline"	"yes"	""	"0"	""	""	"g.61955892G>A"	""	"pathogenic"	"ACMG"
"0000843498"	"2"	"90"	"11"	"61727036"	"61727036"	"subst"	"4.87369E-5"	"00000"	"BEST1_000036"	"g.61727036G>A"	""	"{PMID:Hufendiek 2020:33302512}"	""	"BEST1 c.102C>T, p.Gly34Gly"	"sister heterozygous #6; parents not available"	"Germline"	"yes"	""	"0"	""	""	"g.61959564G>A"	""	"pathogenic"	"ACMG"
"0000843499"	"2"	"90"	"11"	"61727036"	"61727036"	"subst"	"4.87369E-5"	"00000"	"BEST1_000036"	"g.61727036G>A"	""	"{PMID:Hufendiek 2020:33302512}"	""	"BEST1 c.102C>T, p.Gly34Gly"	"sister heterozygous #5; parents not available"	"Germline"	"yes"	""	"0"	""	""	"g.61959564G>A"	""	"pathogenic"	"ACMG"
"0000843500"	"11"	"70"	"11"	"61723294"	"61723294"	"subst"	"0"	"00000"	"BEST1_000218"	"g.61723294G>C"	""	"{PMID:Hufendiek 2020:33302512}"	""	"BEST1 c.102C>T, p.Gly34Gly"	"heterozygous; father, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955822G>C"	""	"likely pathogenic"	"ACMG"
"0000843501"	"11"	"70"	"11"	"61723361"	"61723361"	"subst"	"0"	"00000"	"BEST1_000419"	"g.61723361T>C"	""	"{PMID:Hufendiek 2020:33302512}"	""	"BEST1 c.102C>T, p.Gly34Gly"	"heterozygous; father, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955889T>C"	""	"likely pathogenic"	"ACMG"
"0000843502"	"2"	"90"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Hufendiek 2020:33302512}"	""	"BEST1 c.102C>T, p.Gly34Gly"	"sister heterozygous #4; parents not available"	"Germline"	"yes"	""	"0"	""	""	"g.61955892G>A"	""	"pathogenic"	"ACMG"
"0000843503"	"2"	"90"	"11"	"61724358"	"61724358"	"del"	"0"	"00000"	"BEST1_000458"	"g.61724358del"	""	"{PMID:Hufendiek 2020:33302512}"	""	"BEST1 c.102C>T, p.Gly34Gly"	"heterozygous; parents not available"	"Unknown"	"?"	""	"0"	""	""	"g.61956886del"	""	"pathogenic"	"ACMG"
"0000843504"	"2"	"90"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Hufendiek 2020:33302512}"	""	"BEST1 c.102C>T, p.Gly34Gly"	"heterozygous; brother #17; parents not available"	"Germline"	"yes"	""	"0"	""	""	"g.61956946C>T"	""	"pathogenic"	"ACMG"
"0000843505"	"2"	"90"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Hufendiek 2020:33302512}"	""	"BEST1 c.102C>T, p.Gly34Gly"	"heterozygous; brother #16; parents not available"	"Germline"	"yes"	""	"0"	""	""	"g.61956946C>T"	""	"pathogenic"	"ACMG"
"0000843506"	"2"	"90"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Hufendiek 2020:33302512}"	""	"BEST1 c.102C>T, p.Gly34Gly"	"heterozygous; parents not available"	"Unknown"	"?"	""	"0"	""	""	"g.61955892G>A"	""	"pathogenic"	"ACMG"
"0000843513"	"0"	"70"	"11"	"61723394"	"61723394"	"subst"	"0"	"00000"	"BEST1_000456"	"g.61723394T>G"	""	"{PMID:Yamada 2021:33767958}"	""	"BEST1 c.452T>G (p. F151C)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955922T>G"	""	"likely pathogenic"	"ACMG"
"0000843514"	"0"	"70"	"11"	"61723394"	"61723394"	"subst"	"0"	"00000"	"BEST1_000456"	"g.61723394T>G"	""	"{PMID:Yamada 2021:33767958}"	""	"BEST1 c.452T>G (p. F151C)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955922T>G"	""	"likely pathogenic"	"ACMG"
"0000843515"	"0"	"90"	"11"	"61723420"	"61723420"	"subst"	"0"	"00000"	"BEST1_000241"	"g.61723420G>C"	""	"{PMID:Yamada 2021:33767958}"	""	"BEST1 c.478G>C (p.A160P)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955948G>C"	""	"pathogenic"	"ACMG"
"0000843516"	"0"	"90"	"11"	"61723420"	"61723420"	"subst"	"0"	"00000"	"BEST1_000241"	"g.61723420G>C"	""	"{PMID:Yamada 2021:33767958}"	""	"BEST1 c.478G>C (p.A160P)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955948G>C"	""	"pathogenic"	"ACMG"
"0000843647"	"3"	"70"	"11"	"61724355"	"61724356"	"del"	"0"	"00000"	"BEST1_000346"	"g.61724355_61724356del"	""	"{PMID:Soto-Sierra 2021:33866859}"	""	"BEST1 c.341_342del; p.(Leu114Glnfs*57)"	"different transcript: NM_001139443.2:c.341_342del; p.(Leu114Glnfs*57); homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61956883_61956884del"	""	"likely pathogenic"	""
"0000843651"	"0"	"70"	"11"	"61719322"	"61719322"	"subst"	"0"	"00000"	"BEST1_000221"	"g.61719322G>A"	"0"	"{PMID:Kaden 2017:27668499}"	""	"BEST1 p.G15D"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951850G>A"	""	"likely pathogenic"	""
"0000843659"	"3"	"70"	"11"	"61719381"	"61719381"	"subst"	"0"	"00000"	"BEST1_000132"	"g.61719381G>A"	"0"	"{PMID:Pfister 2021:34015078}"	""	"BEST1 c.103G>A (p.Glu35Lys)"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951909G>A"	""	"likely pathogenic"	""
"0000843660"	"1"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	"0"	"{PMID:Pfister 2021:34015078}"	""	"BEST1 c.422G>A (p.R141H)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic"	""
"0000843661"	"1"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	"0"	"{PMID:Pfister 2021:34015078}"	""	"BEST1 c.422G>A (p.R141H)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic"	""
"0000843662"	"1"	"70"	"11"	"61724893"	"61724893"	"subst"	"0"	"00000"	"BEST1_000460"	"g.61724893T>A"	"0"	"{PMID:Pfister 2021:34015078}"	""	"BEST1 c.671T>A (p.L224Q)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957421T>A"	""	"likely pathogenic"	""
"0000843663"	"3"	"70"	"11"	"61723360"	"61723360"	"subst"	"3.49572E-5"	"00000"	"BEST1_000202"	"g.61723360C>G"	"0"	"{PMID:Pfister 2021:34015078}"	""	"BEST1 c.418C>G  (p.L140V)"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955888C>G"	""	"likely pathogenic"	""
"0000843664"	"3"	"70"	"11"	"61725719"	"61725721"	"del"	"0"	"00000"	"BEST1_000461"	"g.61725719_61725721del"	"0"	"{PMID:Pfister 2021:34015078}"	""	"BEST1 c.816_818delTGT (p.V273del)"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958247_61958249del"	""	"likely pathogenic"	""
"0000843665"	"1"	"70"	"11"	"61719400"	"61719400"	"subst"	"1.62571E-5"	"00000"	"BEST1_000253"	"g.61719400T>C"	"0"	"{PMID:Pfister 2021:34015078}"	""	"BEST1 c.122T>C (p.Leu41Pro)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951928T>C"	""	"likely pathogenic"	""
"0000843666"	"1"	"70"	"11"	"61719400"	"61719400"	"subst"	"1.62571E-5"	"00000"	"BEST1_000253"	"g.61719400T>C"	"0"	"{PMID:Pfister 2021:34015078}"	""	"BEST1 c.122T>C (p.Leu41Pro)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951928T>C"	""	"likely pathogenic"	""
"0000843667"	"3"	"70"	"11"	"61724438"	"61724438"	"subst"	"1.21889E-5"	"00000"	"BEST1_000075"	"g.61724438C>T"	"0"	"{PMID:Pfister 2021:34015078}"	""	"BEST1 c.604C>T (p.Arg202Trp)"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61956966C>T"	""	"likely pathogenic"	""
"0000843668"	"3"	"70"	"11"	"61719400"	"61719400"	"subst"	"1.62571E-5"	"00000"	"BEST1_000253"	"g.61719400T>C"	"0"	"{PMID:Pfister 2021:34015078}"	""	"BEST1 c.122T>C (p.Leu41Pro)"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951928T>C"	""	"likely pathogenic"	""
"0000843669"	"2"	"70"	"11"	"61725733"	"61725733"	"subst"	"8.1215E-6"	"00000"	"BEST1_000165"	"g.61725733C>T"	"0"	"{PMID:Pfister 2021:34015078}"	""	"BEST1 c.830C>T (p.T277M)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958261C>T"	""	"likely pathogenic"	""
"0000843670"	"2"	"70"	"11"	"61725733"	"61725733"	"subst"	"8.1215E-6"	"00000"	"BEST1_000165"	"g.61725733C>T"	"0"	"{PMID:Pfister 2021:34015078}"	""	"BEST1 c.830C>T (p.T277M)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958261C>T"	""	"likely pathogenic"	""
"0000843671"	"2"	"70"	"11"	"61723295"	"61723295"	"subst"	"0"	"00000"	"BEST1_000455"	"g.61723295A>C"	"0"	"{PMID:Pfister 2021:34015078}"	""	"BEST1 c.353A>C (p.D118A)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955823A>C"	""	"likely pathogenic"	""
"0000843672"	"2"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	"0"	"{PMID:Pfister 2021:34015078}"	""	"BEST1 c.422G>A (p.Arg141His)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic"	""
"0000843673"	"2"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	"0"	"{PMID:Pfister 2021:34015078}"	""	"BEST1 c.422G>A (p.Arg141His)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic"	""
"0000843674"	"0"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	"0"	"{PMID:Nowomiejska 2021:34327816}"	""	"BEST1 c.884_886del;p.I295del"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959514_61959516del"	""	"likely pathogenic"	""
"0000843675"	"0"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	"0"	"{PMID:Nowomiejska 2021:34327816}"	""	"BEST1 c.728C>T;p.A243V"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958159C>T"	""	"likely pathogenic"	""
"0000843676"	"0"	"70"	"11"	"61719367"	"61719367"	"subst"	"4.06918E-6"	"00000"	"BEST1_000099"	"g.61719367A>G"	"0"	"{PMID:Nowomiejska 2021:34327816}"	""	"BEST1 c.89A>G;p.K30R"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951895A>G"	""	"likely pathogenic"	""
"0000843677"	"0"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	"0"	"{PMID:Nowomiejska 2021:34327816}"	""	"BEST1 c.728C>T;p.A243V"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958159C>T"	""	"likely pathogenic"	""
"0000843678"	"0"	"70"	"11"	"61726986"	"61726986"	"subst"	"0"	"00000"	"BEST1_000191"	"g.61726986T>C"	"0"	"{PMID:Nowomiejska 2021:34327816}"	""	"BEST1 c.884T>C;p.I295T"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959514T>C"	""	"likely pathogenic"	""
"0000843679"	"0"	"70"	"11"	"61726986"	"61726986"	"subst"	"0"	"00000"	"BEST1_000191"	"g.61726986T>C"	"0"	"{PMID:Nowomiejska 2021:34327816}"	""	"BEST1 c.884T>C;p.I295T"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959514T>C"	""	"likely pathogenic"	""
"0000843680"	"0"	"70"	"11"	"61719350"	"61719350"	"subst"	"0"	"00000"	"BEST1_000170"	"g.61719350G>T"	"0"	"{PMID:Nowomiejska 2021:34327816}"	""	"BEST1 c.72G>T;p.W24C"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951878G>T"	""	"likely pathogenic"	""
"0000843681"	"0"	"70"	"11"	"61719350"	"61719350"	"subst"	"0"	"00000"	"BEST1_000170"	"g.61719350G>T"	"0"	"{PMID:Nowomiejska 2021:34327816}"	""	"BEST1 c.72G>T;p.W24C"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951878G>T"	""	"likely pathogenic"	""
"0000843682"	"0"	"70"	"11"	"61719350"	"61719350"	"subst"	"0"	"00000"	"BEST1_000170"	"g.61719350G>T"	"0"	"{PMID:Nowomiejska 2021:34327816}"	""	"BEST1 c.72G>T;p.W24C"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951878G>T"	""	"likely pathogenic"	""
"0000843683"	"0"	"70"	"11"	"61724925"	"61724925"	"subst"	"0"	"00000"	"BEST1_000107"	"g.61724925G>T"	"0"	"{PMID:Nowomiejska 2021:34327816}"	""	"BEST1 c.703G>T;p.V235L"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957453G>T"	""	"likely pathogenic"	""
"0000843684"	"0"	"70"	"11"	"61724925"	"61724925"	"subst"	"0"	"00000"	"BEST1_000107"	"g.61724925G>T"	"0"	"{PMID:Nowomiejska 2021:34327816}"	""	"BEST1 c.703G>T;p.V235L"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957453G>T"	""	"likely pathogenic"	""
"0000843685"	"0"	"70"	"11"	"61724925"	"61724925"	"subst"	"0"	"00000"	"BEST1_000107"	"g.61724925G>T"	"0"	"{PMID:Nowomiejska 2021:34327816}"	""	"BEST1 c.703G>T;p.V235L"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957453G>T"	""	"likely pathogenic"	""
"0000843686"	"0"	"70"	"11"	"61724925"	"61724925"	"subst"	"0"	"00000"	"BEST1_000107"	"g.61724925G>T"	"0"	"{PMID:Nowomiejska 2021:34327816}"	""	"BEST1 c.703G>T;p.V235L"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957453G>T"	""	"likely pathogenic"	""
"0000843687"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	"0"	"{PMID:Nowomiejska 2021:34327816}"	""	"BEST1 c.652C>T;p.R218C"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000843688"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	"0"	"{PMID:Nowomiejska 2021:34327816}"	""	"BEST1 c.652C>T;p.R218C"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000843689"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	"0"	"{PMID:Nowomiejska 2021:34327816}"	""	"BEST1 c.652C>T;p.R218C"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000843690"	"0"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	"0"	"{PMID:Nowomiejska 2021:34327816}"	""	"BEST1 c.584C>T;p.A195V"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic"	""
"0000843691"	"0"	"70"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	"0"	"{PMID:Nowomiejska 2021:34327816}"	""	"BEST1 c.652C>T;p.R218C"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957402C>T"	""	"likely pathogenic"	""
"0000843692"	"0"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	"0"	"{PMID:Nowomiejska 2021:34327816}"	""	"BEST1 c.422G>A;p.R141H"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic"	""
"0000843693"	"0"	"70"	"11"	"61719322"	"61719322"	"subst"	"0"	"00000"	"BEST1_000221"	"g.61719322G>A"	"0"	"{PMID:Nowomiejska 2021:34327816}"	""	"BEST1 c.44G>A;p.G15D"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951850G>A"	""	"likely pathogenic"	""
"0000843694"	"0"	"70"	"11"	"61727034"	"61727034"	"subst"	"0"	"00000"	"BEST1_000233"	"g.61727034T>G"	"0"	"{PMID:Nowomiejska 2021:34327816}"	""	"BEST1 c.932T>G;p.V311G"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959562T>G"	""	"likely pathogenic"	""
"0000843695"	"0"	"70"	"11"	"61723342"	"61723342"	"subst"	"3.4905E-5"	"00000"	"BEST1_000209"	"g.61723342C>G"	"0"	"{PMID:Nowomiejska 2021:34327816}"	""	"BEST1 c.400C>G;p.L134V"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955870C>G"	""	"likely pathogenic"	""
"0000843696"	"0"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	"0"	"{PMID:Nowomiejska 2021:34327816}"	""	"BEST1 c.422G>A;p.R141H"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic"	""
"0000843697"	"0"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	"0"	"{PMID:Nowomiejska 2021:34327816}"	""	"BEST1 c.884_886del;p.I295del"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959514_61959516del"	""	"likely pathogenic"	""
"0000843698"	"0"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000027"	"g.61725631C>T"	"0"	"{PMID:Nowomiejska 2021:34327816}"	""	"BEST1 c.728C>T;p.A243V"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958159C>T"	""	"likely pathogenic"	""
"0000843699"	"0"	"70"	"11"	"61726986"	"61726988"	"del"	"0"	"00000"	"BEST1_000141"	"g.61726986_61726988del"	"0"	"{PMID:Nowomiejska 2021:34327816}"	""	"BEST1 c.884_886del;p.l295del"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959514_61959516del"	""	"likely pathogenic"	""
"0000843700"	"0"	"70"	"11"	"61723339"	"61723339"	"subst"	"1.39792E-5"	"00000"	"BEST1_000225"	"g.61723339A>C"	"0"	"{PMID:Nowomiejska 2021:34327816}"	""	"BEST1 c.397A>C;p.N133H"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955867A>C"	""	"likely pathogenic"	""
"0000843701"	"0"	"70"	"11"	"61726991"	"61726991"	"subst"	"4.06105E-6"	"00000"	"BEST1_000030"	"g.61726991C>T"	"0"	"{PMID:Nowomiejska 2021:34327816}"	""	"BEST1 c.889C>T;p.P297S"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959519C>T"	""	"likely pathogenic"	""
"0000843702"	"0"	"70"	"11"	"61726986"	"61726986"	"subst"	"0"	"00000"	"BEST1_000191"	"g.61726986T>C"	"0"	"{PMID:Nowomiejska 2021:34327816}"	""	"BEST1 c.884T>C;p.I295T"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959514T>C"	""	"likely pathogenic"	""
"0000843703"	"0"	"70"	"11"	"61725682"	"61725682"	"del"	"0"	"00000"	"BEST1_000139"	"g.61725682del"	"0"	"{PMID:Nowomiejska 2021:34327816}"	""	"BEST1 c.779del;p.P260Qfs*29"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958210del"	""	"likely pathogenic"	""
"0000843704"	"0"	"70"	"11"	"61719315"	"61719315"	"subst"	"0"	"00000"	"BEST1_000220"	"g.61719315C>G"	"0"	"{PMID:Nowomiejska 2021:34327816}"	""	"BEST1 c.37C>G;p.R13G"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61951843C>G"	""	"likely pathogenic"	""
"0000843705"	"0"	"70"	"11"	"61727036"	"61727036"	"subst"	"4.87369E-5"	"00000"	"BEST1_000036"	"g.61727036G>A"	"0"	"{PMID:Nowomiejska 2021:34327816}"	""	"BEST1 c.934G>A;p.D312N"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959564G>A"	""	"likely pathogenic"	""
"0000843706"	"0"	"70"	"11"	"61723342"	"61723342"	"subst"	"3.4905E-5"	"00000"	"BEST1_000209"	"g.61723342C>G"	"0"	"{PMID:Nowomiejska 2021:34327816}"	""	"BEST1 c.400C>G;p.L134V"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955870C>G"	""	"likely pathogenic"	""
"0000843707"	"0"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	"0"	"{PMID:Nowomiejska 2021:34327816}"	""	"BEST1 c.422G>A;p.R141H"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic"	""
"0000843708"	"0"	"70"	"11"	"61724934"	"61724934"	"del"	"0"	"00000"	"BEST1_000229"	"g.61724934del"	"0"	"{PMID:Nowomiejska 2021:34327816}"	""	"BEST1 c.712del;p.Q238Rfs*3"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957462del"	""	"likely pathogenic"	""
"0000843709"	"0"	"70"	"11"	"61729941"	"61729941"	"subst"	"0"	"00000"	"BEST1_000234"	"g.61729941C>T"	"0"	"{PMID:Nowomiejska 2021:34327816}"	""	"BEST1 c.1315C>T;p.Q439*"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61962469C>T"	""	"likely pathogenic"	""
"0000843710"	"0"	"70"	"11"	"61725682"	"61725682"	"del"	"0"	"00000"	"BEST1_000139"	"g.61725682del"	"0"	"{PMID:Nowomiejska 2021:34327816}"	""	"BEST1 c.779del;p.P260Qfs*29"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958210del"	""	"likely pathogenic"	""
"0000843719"	"0"	"70"	"11"	"61727005"	"61727005"	"subst"	"0"	"00000"	"BEST1_000127"	"g.61727005T>G"	""	"{PMID:Li 2021:34001763}"	""	"BEST1 c.903T>G; p.D301E"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959533T>G"	""	"likely pathogenic"	""
"0000843720"	"0"	"70"	"11"	"61727005"	"61727005"	"subst"	"0"	"00000"	"BEST1_000127"	"g.61727005T>G"	""	"{PMID:Li 2021:34001763}"	""	"BEST1 c.903T>G; p.D301E"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61959533T>G"	""	"likely pathogenic"	""
"0000843722"	"0"	"70"	"12"	"61719279"	"61719279"	"subst"	"0"	"00000"	"BEST1_000006"	"g.61719279A>G"	"0"	"{PMID:Khojasteh 2021:34012682}"	""	"BEST1 c.37C>T, p.R13C"	"homozygous"	"Unknown"	"?"	"rs886041141"	"0"	""	""	"g.61951807A>G"	""	"likely pathogenic"	""
"0000843723"	"0"	"70"	"13"	"61719279"	"61719279"	"subst"	"0"	"00000"	"BEST1_000131"	"g.61719279A>G"	"0"	"{PMID:Khojasteh 2021:34012682}"	""	"BEST1 c.102C>T, p.Gly34="	"homozygous"	"Germline"	"yes"	"rs771898125"	"0"	""	""	"g.61951807A>G"	""	"likely pathogenic"	""
"0000843724"	"0"	"70"	"14"	"61719279"	"61719279"	"subst"	"0"	"00000"	"BEST1_000131"	"g.61719279A>G"	"0"	"{PMID:Khojasteh 2021:34012682}"	""	"BEST1 c.102C>T, p.Gly34="	"homozygous"	"Germline"	"yes"	"rs771898125"	"0"	""	""	"g.61951807A>G"	""	"likely pathogenic"	""
"0000843725"	"0"	"70"	"15"	"61719279"	"61719279"	"subst"	"0"	"00000"	"BEST1_000223"	"g.61719279A>G"	"0"	"{PMID:Khojasteh 2021:34012682}"	""	"BEST1 c.287_298del, p.Gln96_Asn99del"	"homozygous"	"Unknown"	"?"	"rs1555099048"	"0"	""	""	"g.61951807A>G"	""	"likely pathogenic"	""
"0000843726"	"0"	"70"	"16"	"61719279"	"61719279"	"subst"	"0"	"00000"	"BEST1_000130"	"g.61719279A>G"	"0"	"{PMID:Khojasteh 2021:34012682}"	""	"BEST1 c.302C>T, p.Pro101Leu"	"homozygous"	"Unknown"	"?"	"rs374517178"	"0"	""	""	"g.61951807A>G"	""	"likely pathogenic"	""
"0000843727"	"0"	"70"	"17"	"61719279"	"61719279"	"subst"	"0"	"00000"	"BEST1_000104"	"g.61719279A>G"	"0"	"{PMID:Khojasteh 2021:34012682}"	""	"BEST1 c.404C>T, p.Gly135Asp"	"error in annotation, p.Gly135Asp is caused by c.404G>A and not c.404C>T; homozygous"	"Unknown"	"?"	"rs1159966472"	"0"	""	""	"g.61951807A>G"	""	"likely pathogenic"	""
"0000843728"	"0"	"70"	"18"	"61719279"	"61719279"	"subst"	"0"	"00000"	"BEST1_000104"	"g.61719279A>G"	"0"	"{PMID:Khojasteh 2021:34012682}"	""	"BEST1 c.404C>T, p.Gly135Asp"	"error in annotation, p.Gly135Asp is caused by c.404G>A and not c.404C>T; homozygous"	"Unknown"	"?"	"rs1159966472"	"0"	""	""	"g.61951807A>G"	""	"likely pathogenic"	""
"0000843729"	"0"	"70"	"19"	"61719279"	"61719279"	"subst"	"0"	"00000"	"BEST1_000030"	"g.61719279A>G"	"0"	"{PMID:Khojasteh 2021:34012682}"	""	"BEST1 c.889C>T, p.Pro297Ser"	"homozygous"	"Unknown"	"?"	"rs1805143"	"0"	""	""	"g.61951807A>G"	""	"likely pathogenic"	""
"0000843730"	"0"	"70"	"20"	"61719279"	"61719279"	"subst"	"0"	"00000"	"BEST1_000030"	"g.61719279A>G"	"0"	"{PMID:Khojasteh 2021:34012682}"	""	"BEST1 c.889C>T, p.Pro297Ser"	"homozygous"	"Unknown"	"?"	"rs1805143"	"0"	""	""	"g.61951807A>G"	""	"likely pathogenic"	""
"0000843731"	"0"	"70"	"21"	"61719279"	"61719279"	"subst"	"0"	"00000"	"BEST1_000128"	"g.61719279A>G"	"0"	"{PMID:Khojasteh 2021:34012682}"	""	"BEST1 c.956C>T, p.Leu319Pro"	"error in annotation, p.Leu319Pro is caused by c.956T>C and not c.956C>T; homozygous"	"Unknown"	"?"	"rs1554963305"	"0"	""	""	"g.61951807A>G"	""	"likely pathogenic"	""
"0000843732"	"0"	"70"	"22"	"61719279"	"61719279"	"subst"	"0"	"00000"	"BEST1_000128"	"g.61719279A>G"	"0"	"{PMID:Khojasteh 2021:34012682}"	""	"BEST1 c.956C>T, p.Leu319Pro"	"error in annotation, p.Leu319Pro is caused by c.956T>C and not c.956C>T; homozygous"	"Unknown"	"?"	"rs1554963305"	"0"	""	""	"g.61951807A>G"	""	"likely pathogenic"	""
"0000843733"	"0"	"70"	"11"	"61725666"	"61725666"	"subst"	"5.27893E-5"	"00000"	"BEST1_000063"	"g.61725666C>T"	""	"{PMID:Lin 2021:34373720}"	""	"BEST1 p.R255W"	"no nucleotide written, extrapolated from protein; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61958194C>T"	""	"likely pathogenic"	""
"0000843734"	"0"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Lin 2021:34373720}"	""	"BEST1 p.A195V"	"no nucleotide written, extrapolated from protein; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic"	""
"0000843735"	"0"	"70"	"11"	"61727012"	"61727014"	"del"	"0"	"00000"	"BEST1_000034"	"g.61727012_61727014del"	""	"{PMID:Lin 2021:34373720}"	""	"BEST1 p.D304del"	"no nucleotide written, extrapolated from protein; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61959540_61959542del"	""	"likely pathogenic"	""
"0000843736"	"0"	"70"	"11"	"61723252"	"61723252"	"subst"	"0"	"00000"	"BEST1_000208"	"g.61723252G>C"	""	"{PMID:Lin 2021:34373720}"	""	"BEST1 p.D104H"	"no nucleotide written, extrapolated from protein; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61955780G>C"	""	"likely pathogenic"	""
"0000844381"	"0"	"70"	"11"	"61724902"	"61724902"	"subst"	"0"	"00000"	"BEST1_000136"	"g.61724902A>G"	""	"{PMID:Liu 2017:27031371}"	""	"BEST1 N296S (c.887A>G)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.61957430A>G"	""	"likely pathogenic"	""
"0000846845"	"0"	"70"	"11"	"61719348"	"61719348"	"subst"	"0"	"03468"	"BEST1_000463"	"g.61719348T>C"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.61951876T>C"	""	"likely pathogenic"	"ACMG"
"0000853056"	"0"	"30"	"11"	"61730145"	"61730145"	"subst"	"0.000926031"	"02330"	"BEST1_000089"	"g.61730145T>C"	""	""	""	"BEST1(NM_001139443.1):c.1339T>C (p.S447P), BEST1(NM_001363593.2):c.547T>C (p.S183P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000853057"	"0"	"30"	"11"	"61735003"	"61735003"	"subst"	"6.35971E-5"	"02327"	"BEST1_000466"	"g.61735003G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000862605"	"0"	"70"	"11"	"61719307"	"61719307"	"subst"	"0"	"02327"	"BEST1_000098"	"g.61719307C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000862606"	"0"	"50"	"11"	"61723366"	"61723366"	"subst"	"0"	"02330"	"BEST1_000464"	"g.61723366A>T"	""	""	""	"BEST1(NM_001139443.2):c.244A>T (p.S82C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000862607"	"0"	"30"	"11"	"61729841"	"61729841"	"subst"	"0.000174668"	"01943"	"BEST1_000465"	"g.61729841G>A"	""	""	""	"BEST1(NM_001139443.1):c.1035G>A (p.R345=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000862608"	"0"	"30"	"11"	"61730325"	"61730325"	"subst"	"0.000446668"	"01943"	"BEST1_000001"	"g.61730325C>T"	""	""	""	"BEST1(NM_001139443.1):c.1519C>T (p.L507F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000869969"	"1"	"70"	"11"	"61727385"	"61727385"	"subst"	"0"	"04333"	"BEST1_000087"	"g.61727385G>T"	""	"{PMID:Ben Yosef 2023:37287645}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.61959913G>T"	""	"pathogenic (recessive)"	""
"0000869970"	"2"	"70"	"11"	"61730248"	"61730248"	"del"	"0"	"04333"	"BEST1_000467"	"g.61730248del"	""	"{PMID:Ben Yosef 2023:37287645}"	""	"1622delT"	""	"Unknown"	""	""	"0"	""	""	"g.61962776del"	""	"pathogenic (recessive)"	""
"0000873366"	"0"	"70"	"11"	"61719380"	"61719380"	"subst"	"1.62715E-5"	"00000"	"BEST1_000131"	"g.61719380C>T"	""	"{PMID:Casalino 2020:33039401}"	""	"BEST1 c.102C>T, p.Gly34Gly"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61951908C>T"	""	"likely pathogenic"	""
"0000873367"	"0"	"70"	"11"	"61719380"	"61719380"	"subst"	"1.62715E-5"	"00000"	"BEST1_000131"	"g.61719380C>T"	""	"{PMID:Casalino 2020:33039401}"	""	"BEST1 c.102C>T, p.Gly34Gly"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61951908C>T"	""	"likely pathogenic"	""
"0000873368"	"3"	"70"	"11"	"61719251"	"61719251"	"subst"	"0"	"00000"	"BEST1_000468"	"g.61719251C>T"	""	"{PMID:Casalino 2020:33039401}"	""	"BEST1 c.-29+1G>T, splicing"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61951779C>T"	""	"likely pathogenic"	""
"0000873369"	"0"	"70"	"11"	"61727429"	"61727429"	"subst"	"0"	"00000"	"BEST1_000475"	"g.61727429G>A"	""	"{PMID:Casalino 2020:33039401}"	""	"BEST1 c.1014G>A, p.Trp338Ter"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61959957G>A"	""	"likely pathogenic"	""
"0000873370"	"3"	"70"	"11"	"61723360"	"61723360"	"subst"	"3.49572E-5"	"00000"	"BEST1_000202"	"g.61723360C>G"	""	"{PMID:Casalino 2020:33039401}"	""	"BEST1 c.418C>G, p.Leu140Val"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61955888C>G"	""	"likely pathogenic"	""
"0000873371"	"0"	"70"	"11"	"61723396"	"61723396"	"subst"	"2.86217E-5"	"00000"	"BEST1_000308"	"g.61723396C>G"	""	"{PMID:Casalino 2020:33039401}"	""	"BEST1 c.454C>G, p.Pro152Ala"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61955924C>G"	""	"likely pathogenic"	""
"0000873372"	"0"	"70"	"11"	"61719400"	"61719400"	"subst"	"1.62571E-5"	"00000"	"BEST1_000253"	"g.61719400T>C"	""	"{PMID:Casalino 2020:33039401}"	""	"BEST1 c.122T>C, p.Leu41Pro"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61951928T>C"	""	"likely pathogenic"	""
"0000873373"	"0"	"70"	"11"	"61723396"	"61723396"	"subst"	"2.86217E-5"	"00000"	"BEST1_000308"	"g.61723396C>G"	""	"{PMID:Casalino 2020:33039401}"	""	"BEST1 c.454C>G, p.Pro152Ala"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61955924C>G"	""	"likely pathogenic"	""
"0000873374"	"3"	"70"	"11"	"61724432"	"61724432"	"subst"	"1.21878E-5"	"00000"	"BEST1_000311"	"g.61724432C>T"	""	"{PMID:Casalino 2020:33039401}"	""	"BEST1 c.598C>T, p.Arg200Ter"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61956960C>T"	""	"likely pathogenic"	""
"0000873375"	"3"	"70"	"11"	"61723229"	"61723240"	"del"	"0"	"00000"	"BEST1_000223"	"g.61723229_61723240del"	""	"{PMID:Casalino 2020:33039401}"	""	"BEST1 c.107_118delAGTACGAGAACC, p.Gln36_Asn39del"	"different transcript: NM_001139443.1(BEST1):c.107_118del, p.(Gln36_Asn39del); homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61955757_61955768del"	""	"likely pathogenic"	""
"0000873376"	"0"	"70"	"11"	"61727453"	"61727453"	"dup"	"0"	"00000"	"BEST1_000339"	"g.61727453dup"	""	"{PMID:Casalino 2020:33039401}"	""	"BEST1 c.1038dupC, p.Tyr347LeufsTer54"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61959981dup"	""	"likely pathogenic"	""
"0000873377"	"0"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Casalino 2020:33039401}"	""	"BEST1 c.422G>A, p.Arg141His"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic"	""
"0000873378"	"3"	"70"	"11"	"61724471"	"61724471"	"subst"	"0"	"00000"	"BEST1_000269"	"g.61724471G>C"	""	"{PMID:Casalino 2020:33039401}"	""	"BEST1 c.636+1G>C, splicing"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61956999G>C"	""	"likely pathogenic"	""
"0000873379"	"0"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Casalino 2020:33039401}"	""	"BEST1 c.584C>T, p.Ala195Val"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic"	""
"0000873380"	"0"	"70"	"11"	"61727481"	"61727481"	"subst"	"4.16691E-6"	"00000"	"BEST1_000144"	"g.61727481C>T"	""	"{PMID:Casalino 2020:33039401}"	""	"BEST1 c.1066C>T, p.Arg356Ter"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61960009C>T"	""	"likely pathogenic"	""
"0000873381"	"0"	"70"	"11"	"61727481"	"61727481"	"subst"	"4.16691E-6"	"00000"	"BEST1_000144"	"g.61727481C>T"	""	"{PMID:Casalino 2020:33039401}"	""	"BEST1 c.1066C>T, p.Arg356Ter"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61960009C>T"	""	"likely pathogenic"	""
"0000873382"	"3"	"70"	"11"	"61723410"	"61723410"	"subst"	"0"	"00000"	"BEST1_000472"	"g.61723410C>G"	""	"{PMID:Casalino 2020:33039401}"	""	"BEST1 c.468C>G, p.His156Gln"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61955938C>G"	""	"likely pathogenic"	""
"0000873383"	"0"	"70"	"11"	"61727481"	"61727481"	"subst"	"4.16691E-6"	"00000"	"BEST1_000144"	"g.61727481C>T"	""	"{PMID:Casalino 2020:33039401}"	""	"BEST1 c.1066C>T, p.Arg356Ter"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61960009C>T"	""	"likely pathogenic"	""
"0000873384"	"0"	"70"	"11"	"61727389"	"61727389"	"subst"	"4.90132E-5"	"00000"	"BEST1_000037"	"g.61727389T>C"	""	"{PMID:Casalino 2020:33039401}"	""	"BEST1 c.974T>C, p.Met325Thr"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61959917T>C"	""	"likely pathogenic"	""
"0000873385"	"0"	"70"	"11"	"61719307"	"61719307"	"subst"	"0"	"00000"	"BEST1_000098"	"g.61719307C>T"	""	"{PMID:Casalino 2020:33039401}"	""	"BEST1 c.29C>T, p.Ala10Val"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61951835C>T"	""	"likely pathogenic"	""
"0000873386"	"0"	"70"	"11"	"61723233"	"61723233"	"subst"	"0"	"00000"	"BEST1_000471"	"g.61723233C>G"	""	"{PMID:Casalino 2020:33039401}"	""	"BEST1 c.291C>G, p.Tyr97Ter"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61955761C>G"	""	"likely pathogenic"	""
"0000873387"	"0"	"70"	"11"	"61719352"	"61719352"	"subst"	"0"	"00000"	"BEST1_000043"	"g.61719352G>A"	""	"{PMID:Casalino 2020:33039401}"	""	"BEST1 c.74G>A, p.Arg25Gln"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61951880G>A"	""	"likely pathogenic"	""
"0000873388"	"0"	"70"	"11"	"61724364"	"61724364"	"subst"	"4.06072E-6"	"00000"	"BEST1_000473"	"g.61724364C>T"	""	"{PMID:Casalino 2020:33039401}"	""	"BEST1 c.530C>T, p.Pro177Leu"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61956892C>T"	""	"likely pathogenic"	""
"0000873389"	"0"	"70"	"11"	"61727453"	"61727453"	"dup"	"0"	"00000"	"BEST1_000339"	"g.61727453dup"	""	"{PMID:Casalino 2020:33039401}"	""	"BEST1 c.1038dupC, p.Tyr347LeufsTer54"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61959981dup"	""	"likely pathogenic"	""
"0000873390"	"3"	"70"	"11"	"61725631"	"61725631"	"subst"	"0"	"00000"	"BEST1_000370"	"g.61725631C>A"	""	"{PMID:Casalino 2020:33039401}"	""	"BEST1 c.728C>A, p.Ala243Glu"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61958159C>A"	""	"likely pathogenic"	""
"0000873391"	"3"	"70"	"11"	"61723360"	"61723360"	"subst"	"3.49572E-5"	"00000"	"BEST1_000202"	"g.61723360C>G"	""	"{PMID:Casalino 2020:33039401}"	""	"BEST1 c.418C>G, p.Leu140Val"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61955888C>G"	""	"likely pathogenic"	""
"0000873392"	"0"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Casalino 2020:33039401}"	""	"BEST1 c.422G>A, p.Arg141His"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic"	""
"0000873393"	"0"	"70"	"11"	"61724406"	"61724406"	"subst"	"4.06095E-6"	"00000"	"BEST1_000157"	"g.61724406T>C"	""	"{PMID:Casalino 2020:33039401}"	""	"BEST1 c.572T>C, p.Leu191Pro"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61956934T>C"	""	"likely pathogenic"	""
"0000873394"	"0"	"70"	"11"	"61730096"	"61730097"	"del"	"0"	"00000"	"BEST1_000297"	"g.61730096_61730097del"	""	"{PMID:Casalino 2020:33039401}"	""	"BEST1 c.1470_1471delCA, p.His490GlnfsTer24"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61962624_61962625del"	""	"likely pathogenic"	""
"0000873395"	"0"	"70"	"11"	"61719251"	"61719251"	"subst"	"0"	"00000"	"BEST1_000468"	"g.61719251C>T"	""	"{PMID:Casalino 2020:33039401}"	""	"BEST1 c.-29+1G>T, Splicing"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61951779C>T"	""	"likely pathogenic"	""
"0000873396"	"0"	"70"	"11"	"61719400"	"61719400"	"subst"	"1.62571E-5"	"00000"	"BEST1_000253"	"g.61719400T>C"	""	"{PMID:Casalino 2020:33039401}"	""	"BEST1 c.122T>C, p.Leu41Pro"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61951928T>C"	""	"likely pathogenic"	""
"0000873397"	"0"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Casalino 2020:33039401}"	""	"BEST1 c.422G>A, p.Arg141His"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic"	""
"0000873398"	"0"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00000"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Casalino 2020:33039401}"	""	"BEST1 c.584C>T, p.Ala195Val"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61956946C>T"	""	"likely pathogenic"	""
"0000873399"	"0"	"70"	"11"	"61724367"	"61724367"	"subst"	"0"	"00000"	"BEST1_000333"	"g.61724367A>C"	""	"{PMID:Casalino 2020:33039401}"	""	"BEST1 c.533A>C, p.His178Pro"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61956895A>C"	""	"likely pathogenic"	""
"0000873400"	"0"	"70"	"11"	"61723417"	"61723417"	"subst"	"0"	"00000"	"BEST1_000332"	"g.61723417C>T"	""	"{PMID:Casalino 2020:33039401}"	""	"BEST1 c.475C>T, p.Gln159Ter"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61955945C>T"	""	"likely pathogenic"	""
"0000873401"	"0"	"70"	"11"	"61727389"	"61727389"	"subst"	"4.90132E-5"	"00000"	"BEST1_000037"	"g.61727389T>C"	""	"{PMID:Casalino 2020:33039401}"	""	"BEST1 c.974T>C, p.Met325Thr"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61959917T>C"	""	"likely pathogenic"	""
"0000873402"	"0"	"70"	"11"	"0"	"0"	""	"0"	"00000"	"DRD4_000002"	"g.?"	""	"{PMID:Casalino 2020:33039401}"	""	"BEST1 exons 1-2 deletion"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000873403"	"0"	"70"	"11"	"61724384"	"61724384"	"subst"	"0"	"00000"	"BEST1_000335"	"g.61724384C>T"	""	"{PMID:Casalino 2020:33039401}"	""	"BEST1 c.550C>T, p.Pro184Ser"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61956912C>T"	""	"likely pathogenic"	""
"0000873404"	"0"	"70"	"11"	"61724436"	"61724436"	"subst"	"6.50042E-5"	"00000"	"BEST1_000212"	"g.61724436T>C"	""	"{PMID:Casalino 2020:33039401}"	""	"BEST1 c.602T>C, p.Ile201Thr"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61956964T>C"	""	"likely pathogenic"	""
"0000873405"	"0"	"70"	"11"	"61724436"	"61724436"	"subst"	"6.50042E-5"	"00000"	"BEST1_000212"	"g.61724436T>C"	""	"{PMID:Casalino 2020:33039401}"	""	"BEST1 c.602T>C, p.Ile201Thr"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61956964T>C"	""	"likely pathogenic"	""
"0000873406"	"0"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00000"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Casalino 2020:33039401}"	""	"BEST1 c.422G>A, p.Arg141His"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61955892G>A"	""	"likely pathogenic"	""
"0000873407"	"0"	"70"	"11"	"61719400"	"61719400"	"subst"	"1.62571E-5"	"00000"	"BEST1_000253"	"g.61719400T>C"	""	"{PMID:Casalino 2020:33039401}"	""	"BEST1 c.122T>C, p.Leu41Pro"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61951928T>C"	""	"likely pathogenic"	""
"0000873408"	"0"	"70"	"11"	"61723220"	"61723220"	"subst"	"0"	"00000"	"BEST1_000470"	"g.61723220G>A"	""	"{PMID:Casalino 2020:33039401}"	""	"BEST1 c.278G>A, p.Trp93Ter"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61955748G>A"	""	"likely pathogenic"	""
"0000873409"	"0"	"70"	"11"	"61722595"	"61722595"	"subst"	"4.06253E-6"	"00000"	"BEST1_000469"	"g.61722595G>T"	""	"{PMID:Casalino 2020:33039401}"	""	"BEST1 c.169G>T, p.Glu57Ter"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61955123G>T"	""	"likely pathogenic"	""
"0000873410"	"0"	"70"	"11"	"61723363"	"61723363"	"subst"	"0"	"00000"	"BEST1_000151"	"g.61723363C>A"	""	"{PMID:Casalino 2020:33039401}"	""	"BEST1 c.421C>A, p.Arg141Ser"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61955891C>A"	""	"likely pathogenic"	""
"0000873411"	"0"	"70"	"11"	"61725742"	"61725742"	"subst"	"4.06068E-6"	"00000"	"BEST1_000474"	"g.61725742A>C"	""	"{PMID:Casalino 2020:33039401}"	""	"BEST1 c.839A>C, p.Gln280Pro"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61958270A>C"	""	"likely pathogenic"	""
"0000881413"	"1"	"70"	"11"	"61724439"	"61724439"	"subst"	"4.06319E-6"	"04405"	"BEST1_000476"	"g.61724439G>A"	""	"{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61956967G>A"	""	"likely pathogenic"	"ACMG"
"0000881414"	"1"	"70"	"11"	"61727482"	"61727482"	"subst"	"2.50267E-5"	"04405"	"BEST1_000097"	"g.61727482G>T"	""	"{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61960010G>T"	""	"likely pathogenic"	"ACMG"
"0000890003"	"0"	"50"	"11"	"61719406"	"61719406"	"subst"	"0"	"02327"	"BEST1_000044"	"g.61719406A>G"	""	""	""	"BEST1(NM_004183.4):c.128A>G (p.Y43C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000890004"	"0"	"70"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"02330"	"BEST1_000018"	"g.61724418C>T"	""	""	""	"BEST1(NM_001139443.2):c.404C>T (p.A135V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000890005"	"0"	"10"	"11"	"61727485"	"61727485"	"subst"	"0.0013356"	"02330"	"BEST1_000065"	"g.61727485C>T"	""	""	""	"BEST1(NM_001363593.2):c.98C>T (p.A33V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000890006"	"0"	"50"	"11"	"61729922"	"61729922"	"subst"	"0"	"02330"	"BEST1_000477"	"g.61729922C>T"	""	""	""	"BEST1(NM_001363593.2):c.324C>T (p.A108=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000896518"	"1"	"70"	"11"	"61722640"	"61722640"	"subst"	"0"	"00000"	"BEST1_000240"	"g.61722640T>C"	"Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0"	"{PMID:Chen 2021:33608557}"	""	"BEST1 c.[34T>C];[34=]; p.(Tyr12His)"	"different transcript NM_001300787.2::c.34T>C, p.(Tyr12His); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955168T>C"	""	"likely pathogenic"	""
"0000896577"	"1"	"70"	"11"	"61719303"	"61719303"	"subst"	"0"	"00000"	"BEST1_000005"	"g.61719303G>A"	"Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0"	"{PMID:Chen 2021:33608557}"	""	"BEST1 c.[25G>A];[25=]; p.(Val9Met)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951831G>A"	""	"likely pathogenic"	""
"0000896588"	"1"	"70"	"11"	"61723420"	"61723420"	"subst"	"0"	"00000"	"BEST1_000241"	"g.61723420G>C"	"Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0"	"{PMID:Chen 2021:33608557}"	""	"BEST1 c.[1040C>T];[1040=]; p.(Ala100Pro)"	"different transcript NM_001300787.2:c.298G>C, p.(Ala100Pro); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61955948G>C"	""	"likely pathogenic"	""
"0000896639"	"1"	"70"	"11"	"61719313"	"61719313"	"subst"	"0"	"00000"	"BEST1_000239"	"g.61719313C>A"	"Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0"	"{PMID:Chen 2021:33608557}"	""	"BEST1 c.[35C>A];[35=]; p.(Ala12Asp)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.61951841C>A"	""	"likely pathogenic"	""
"0000905851"	"0"	"90"	"11"	"61726976"	"61726976"	"subst"	"0"	"00000"	"BEST1_000108"	"g.61726976G>A"	""	"{PMID:Zhu 2022:35456422}"	""	"BEST1 c.874G>A, p.(Glu292Lys)"	"heterozygous, probably causal"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61959504G>A"	""	"pathogenic"	"ACMG"
"0000905852"	"0"	"90"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Zhu 2022:35456422}"	""	"BEST1 c.472C>T, p.Arg158Cys"	"different transcript, NM_001139443.1(BEST1):c.472C>T is NM_004183.3(BEST1):c.652C>T, p.(Arg218Cys); heterozygous, probably causal"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61957402C>T"	""	"pathogenic"	"ACMG"
"0000905853"	"0"	"90"	"11"	"61724874"	"61724874"	"subst"	"0"	"00000"	"BEST1_000020"	"g.61724874C>T"	""	"{PMID:Zhu 2022:35456422}"	""	"BEST1 c.472C>T, p.Arg158Cys"	"heterozygous, probably causal"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.61957402C>T"	""	"pathogenic"	"ACMG"
"0000913628"	"0"	"30"	"11"	"61719438"	"61719438"	"subst"	"0"	"02330"	"BEST1_000478"	"g.61719438T>C"	""	""	""	"BEST1(NM_001139443.2):c.-29+1539T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000916028"	"0"	"70"	"11"	"61729726"	"61729726"	"subst"	"0"	"04436"	"BEST1_000479"	"g.61729726G>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1101-1G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000916045"	"0"	"70"	"11"	"61724926"	"61724926"	"subst"	"0"	"04436"	"BEST1_000317"	"g.61724926T>C"	""	"{PMID:Panneman 2023:36819107}"	""	"c.704T>C"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000916061"	"0"	"90"	"11"	"61724904"	"61724904"	"subst"	"4.06072E-6"	"04436"	"BEST1_000060"	"g.61724904G>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.682G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916136"	"0"	"90"	"11"	"61724904"	"61724904"	"subst"	"4.06072E-6"	"04436"	"BEST1_000060"	"g.61724904G>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.682G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916548"	"0"	"90"	"11"	"61723330"	"61723330"	"subst"	"2.09702E-5"	"04436"	"BEST1_000189"	"g.61723330C>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.388C>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916553"	"3"	"70"	"11"	"61724355"	"61724356"	"del"	"0"	"04436"	"BEST1_000346"	"g.61724355_61724356del"	""	"{PMID:Panneman 2023:36819107}"	""	"c.521_522del"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000929928"	"0"	"50"	"11"	"61723421"	"61723421"	"subst"	"0"	"02327"	"BEST1_000480"	"g.61723421C>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000929929"	"0"	"30"	"11"	"61724329"	"61724329"	"subst"	"0.000605165"	"02330"	"BEST1_000481"	"g.61724329G>A"	""	""	""	"BEST1(NM_001139443.2):c.315G>A (p.P105=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000929930"	"0"	"70"	"11"	"61727022"	"61727022"	"subst"	"0"	"02327"	"BEST1_000374"	"g.61727022C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000933614"	"0"	"90"	"11"	"61725754"	"61725754"	"subst"	"0"	"04552"	"BEST1_000115"	"g.61725754A>G"	""	"Villafuerte-de la Cruz RA, et al., 2023. Submitted"	""	""	""	"Germline"	"yes"	"rs727503824"	""	""	""	""	"{CV:166746}"	"pathogenic"	"ACMG"
"0000949722"	"0"	"70"	"11"	"61723214"	"61723214"	"subst"	"0"	"02327"	"BEST1_000257"	"g.61723214C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000949723"	"0"	"70"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"02330"	"BEST1_000016"	"g.61723364G>A"	""	""	""	"BEST1(NM_001139443.2):c.242G>A (p.R81H), BEST1(NM_004183.3):c.422G>A (p.R141H), BEST1(NM_004183.4):c.422G>A (p.(Arg141His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000949724"	"0"	"50"	"11"	"61727429"	"61727429"	"subst"	"0"	"02327"	"BEST1_000482"	"g.61727429G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000949725"	"0"	"50"	"11"	"61727430"	"61727430"	"subst"	"0"	"02327"	"BEST1_000483"	"g.61727430A>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000949726"	"0"	"30"	"11"	"61729931"	"61729931"	"subst"	"6.09102E-5"	"02327"	"BEST1_000484"	"g.61729931C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000949727"	"0"	"30"	"11"	"61730295"	"61730295"	"subst"	"0.000462907"	"02327"	"BEST1_000061"	"g.61730295G>A"	""	""	""	"BEST1(NM_001139443.2):c.1489G>A (p.E497K), BEST1(NM_004183.3):c.1669G>A (p.E557K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000949728"	"0"	"30"	"11"	"61730439"	"61730439"	"subst"	"0.00190759"	"02330"	"BEST1_000485"	"g.61730439C>A"	""	""	""	"BEST1(NM_001363593.2):c.841C>A (p.P281T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000954790"	"21"	"90"	"11"	"61719298"	"61719298"	"subst"	"2.44129E-5"	"00006"	"BEST1_000342"	"g.61719298G>A"	""	"{PMID:Fan 2020:32883240}"	""	""	"variant in unaffected mother"	"Germline"	""	""	"0"	""	""	"g.61951826G>A"	""	"pathogenic"	""
"0000954791"	"11"	"90"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00006"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Fan 2020:32883240}"	""	""	"variant in unaffected father"	"Germline"	""	""	"0"	""	""	"g.61956946C>T"	""	"pathogenic"	""
"0000957436"	"0"	"90"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00006"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Liu 2023:37337769}"	""	""	"incomplete penetrance"	"Germline"	"no"	"rs200277476"	"0"	""	""	"g.61956946C>T"	"rs200277476"	"pathogenic (!)"	""
"0000957437"	"0"	"90"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00006"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Liu 2023:37337769}"	""	""	"incomplete penetrance"	"Germline"	"no"	"rs200277476"	"0"	""	""	"g.61956946C>T"	"rs200277476"	"pathogenic (!)"	""
"0000957479"	"1"	"90"	"11"	"61719298"	"61719298"	"subst"	"2.44129E-5"	"00006"	"BEST1_000342"	"g.61719298G>A"	""	"{PMID:Liu 2023:37337769}"	""	""	"incomplete penetrance"	"Germline"	"yes"	"rs199508634"	"0"	""	""	"g.61951826G>A"	"rs199508634"	"pathogenic (!)"	""
"0000957480"	"1"	"90"	"11"	"61719298"	"61719298"	"subst"	"2.44129E-5"	"00006"	"BEST1_000342"	"g.61719298G>A"	""	"{PMID:Liu 2023:37337769}"	""	""	"incomplete penetrance"	"Germline"	"yes"	"rs199508634"	"0"	""	""	"g.61951826G>A"	"rs199508634"	"pathogenic (!)"	""
"0000958008"	"0"	"90"	"11"	"61724935"	"61724935"	"subst"	"0"	"00006"	"BEST1_000486"	"g.61724935A>G"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PP3, PM2, PM1, PP2, PP5_STRONG"	"Germline"	""	""	"0"	""	""	"g.61957463A>G"	""	"pathogenic"	"ACMG"
"0000958097"	"0"	"90"	"11"	"61724925"	"61724925"	"subst"	"0"	"00006"	"BEST1_000107"	"g.61724925G>T"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PP3, PM2, PM5_SUPPORTING, PM1, PP2, PP5_STRONG"	"Germline"	""	""	"0"	""	""	"g.61957453G>T"	""	"pathogenic"	"ACMG"
"0000958099"	"0"	"90"	"11"	"61724915"	"61724915"	"subst"	"0"	"00006"	"BEST1_000083"	"g.61724915T>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PS1, PP3, PM2, PM1, PP2, PP5"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.61957443T>A"	""	"pathogenic"	"ACMG"
"0000958100"	"0"	"90"	"11"	"61724906"	"61724906"	"subst"	"4.06065E-6"	"00006"	"BEST1_000126"	"g.61724906C>G"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PP3, PM2, PM5_SUPPORTING, PM1, PP2, PP5_STRONG"	"Germline"	""	""	"0"	""	""	"g.61957434C>G"	"522450"	"pathogenic"	"ACMG"
"0000958101"	"0"	"90"	"11"	"61725631"	"61725631"	"subst"	"0"	"00006"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PP3, PM2, PM5, PM1_SUPPORTING, PP2, PP5_STRONG"	"Germline"	""	""	"0"	""	""	"g.61958159C>T"	""	"pathogenic"	"ACMG"
"0000958102"	"0"	"90"	"11"	"61723239"	"61723239"	"subst"	"0"	"00006"	"BEST1_000262"	"g.61723239C>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PP3, PM2, PM5_SUPPORTING, PM1, PP2, PP5_STRONG"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.61955767C>A"	""	"pathogenic"	"ACMG"
"0000958103"	"3"	"70"	"11"	"61722608"	"61722608"	"del"	"0"	"00006"	"BEST1_000093"	"g.61722608del"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1_MODERATE, PP5_STRONG"	"Germline"	""	""	"0"	""	""	"g.61955136del"	"987408"	"likely pathogenic"	"ACMG"
"0000958104"	"21"	"70"	"11"	"61724887"	"61724887"	"subst"	"0"	"00006"	"BEST1_000106"	"g.61724887G>T"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PP3, PM2, PP2, PP5_STRONG"	"Germline"	""	""	"0"	""	""	"g.61957415G>T"	"99739"	"likely pathogenic"	"ACMG"
"0000958105"	"0"	"90"	"11"	"61729941"	"61729941"	"subst"	"0"	"00006"	"BEST1_000234"	"g.61729941C>T"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5"	"Germline"	""	""	"0"	""	""	"g.61962469C>T"	"813025"	"pathogenic"	"ACMG"
"0000958106"	"0"	"70"	"11"	"61727012"	"61727014"	"del"	"0"	"00006"	"BEST1_000034"	"g.61727012_61727014del"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PM4, PM5_SUPPORTING, PM1"	"Germline"	""	""	"0"	""	""	"g.61959540_61959542del"	""	"likely pathogenic"	"ACMG"
"0000958107"	"0"	"70"	"11"	"61726976"	"61726976"	"subst"	"0"	"00006"	"BEST1_000108"	"g.61726976G>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PP3, PM2, PP2, PP5_STRONG"	"Germline"	""	""	"0"	""	""	"g.61959504G>A"	""	"likely pathogenic"	"ACMG"
"0000958214"	"3"	"90"	"11"	"61725682"	"61725682"	"del"	"0"	"00006"	"BEST1_000139"	"g.61725682del"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5"	"Germline"	""	""	"0"	""	""	"g.61958210del"	"817618"	"pathogenic"	"ACMG"
"0000958366"	"3"	"90"	"11"	"61723229"	"61723240"	"del"	"0"	"00006"	"BEST1_000223"	"g.61723229_61723240del"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PM4, PM1, PP5_STRONG, PS4_MODERATE"	"Germline"	""	""	"0"	""	""	"g.61955757_61955768del"	""	"pathogenic"	"ACMG"
"0000958477"	"0"	"90"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"00006"	"BEST1_000016"	"g.61723364G>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PP3, PM2, PM5, PM1, PP2, PP5_STRONG"	"Germline"	""	""	"0"	""	""	"g.61955892G>A"	"2740"	"pathogenic"	"ACMG"
"0000958478"	"0"	"70"	"11"	"61727012"	"61727014"	"del"	"0"	"00006"	"BEST1_000034"	"g.61727012_61727014del"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PM4, PM5_SUPPORTING, PM1"	"Germline"	""	""	"0"	""	""	"g.61959540_61959542del"	""	"likely pathogenic"	"ACMG"
"0000958583"	"0"	"90"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"00006"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PP3, PM2, PP2, PP5_STRONG"	"Germline"	""	""	"0"	""	""	"g.61956946C>T"	""	"pathogenic"	"ACMG"
"0000958863"	"0"	"50"	"11"	"61723219"	"61723225"	"delins"	"0"	"00006"	"BEST1_000096"	"g.61723219_61723225delinsCGGTTGG"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PM1, PP2"	"Germline"	""	""	"0"	""	""	"g.61955747_61955753delinsCGGTTGG"	""	"VUS"	"ACMG"
"0000959468"	"0"	"90"	"11"	"61719417"	"61719417"	"subst"	"1.62596E-5"	"00006"	"BEST1_000329"	"g.61719417C>T"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM1, PP2, PM2, PM5, PP3, PP5; no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.61951945C>T"	"305117"	"pathogenic"	"ACMG"
"0000966450"	"0"	"70"	"11"	"61727007"	"61727007"	"subst"	"0"	"01943"	"BEST1_000033"	"g.61727007A>C"	""	""	""	"BEST1(NM_001139443.1):c.725A>C (p.D242A), BEST1(NM_004183.3):c.905A>C (p.D302A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000979689"	"0"	"90"	"11"	"61723364"	"61723364"	"subst"	"0.000533004"	"01804"	"BEST1_000016"	"g.61723364G>A"	""	""	""	"BEST1(NM_001139443.2):c.242G>A (p.R81H), BEST1(NM_004183.3):c.422G>A (p.R141H), BEST1(NM_004183.4):c.422G>A (p.(Arg141His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000979690"	"0"	"50"	"11"	"61724433"	"61724433"	"subst"	"1.62513E-5"	"01804"	"BEST1_000487"	"g.61724433G>A"	""	""	""	"BEST1(NM_004183.4):c.599G>A (p.(Arg200Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000979691"	"0"	"90"	"11"	"61724901"	"61724901"	"subst"	"0"	"01804"	"BEST1_000022"	"g.61724901T>A"	""	""	""	"BEST1(NM_001139443.2):c.499T>A (p.Y167N), BEST1(NM_004183.3):c.679T>A (p.Y227N), BEST1(NM_004183.4):c.679T>A (p.(Tyr227Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000979692"	"0"	"50"	"11"	"61725707"	"61725707"	"subst"	"0"	"01804"	"BEST1_000488"	"g.61725707G>C"	""	""	""	"BEST1(NM_004183.4):c.804G>C (p.(Glu268Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000986293"	"1"	"90"	"11"	"61725631"	"61725631"	"subst"	"0"	"04405"	"BEST1_000027"	"g.61725631C>T"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61958159C>T"	""	"pathogenic"	"ACMG"
"0000986294"	"1"	"90"	"11"	"61724432"	"61724432"	"subst"	"1.21878E-5"	"04405"	"BEST1_000311"	"g.61724432C>T"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61956960C>T"	""	"pathogenic"	"ACMG"
"0000986295"	"1"	"50"	"11"	"61727452"	"61727452"	"subst"	"5.35257E-5"	"04405"	"BEST1_000064"	"g.61727452C>A"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61959980C>A"	""	"VUS"	"ACMG"
"0000986296"	"1"	"70"	"11"	"61723420"	"61723420"	"subst"	"0"	"04405"	"BEST1_000241"	"g.61723420G>C"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61955948G>C"	""	"likely pathogenic"	"ACMG"
"0000986297"	"1"	"90"	"11"	"61730070"	"61730070"	"del"	"1.21842E-5"	"04405"	"BEST1_000489"	"g.61730070del"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61962598del"	""	"pathogenic"	"ACMG"
"0000986298"	"3"	"70"	"11"	"61723346"	"61723346"	"subst"	"0"	"04405"	"BEST1_000104"	"g.61723346G>A"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61955874G>A"	""	"likely pathogenic"	"ACMG"
"0000986299"	"1"	"70"	"11"	"61730572"	"61730572"	"subst"	"0"	"04405"	"BEST1_000490"	"g.61730572C>G"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"1766C>G (Ser589*)"	""	"Germline"	""	""	"0"	""	""	"g.61963100C>G"	""	"likely pathogenic"	"ACMG"
"0000986300"	"1"	"90"	"11"	"61723217"	"61723217"	"subst"	"0"	"04405"	"BEST1_000260"	"g.61723217G>A"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61955745G>A"	""	"pathogenic"	"ACMG"
"0000986301"	"1"	"90"	"11"	"61724875"	"61724875"	"subst"	"1.21819E-5"	"04405"	"BEST1_000021"	"g.61724875G>A"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61957403G>A"	""	"pathogenic"	"ACMG"
"0000986872"	"2"	"90"	"11"	"61724418"	"61724418"	"subst"	"0.000251799"	"04405"	"BEST1_000018"	"g.61724418C>T"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61956946C>T"	""	"pathogenic"	"ACMG"
"0000986886"	"1"	"70"	"11"	"61723346"	"61723346"	"subst"	"0"	"04405"	"BEST1_000104"	"g.61723346G>A"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	"carries likely causative variants in more than one gene"	"Germline"	""	""	"0"	""	""	"g.61955874G>A"	""	"likely pathogenic"	"ACMG"
"0000987300"	"0"	"90"	"11"	"61723244"	"61723244"	"subst"	"0"	"00006"	"BEST1_000085"	"g.61723244C>G"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	"no variant 2nd chromosome, case unsolved"	"Germline"	""	""	"0"	""	""	"g.61955772C>G"	""	"pathogenic"	"ACMG"
"0001014848"	"0"	"50"	"11"	"61722643"	"61722643"	"subst"	"0"	"02327"	"BEST1_000344"	"g.61722643A>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001022310"	"1"	"70"	"11"	"61723315"	"61723315"	"subst"	"0"	"00006"	"BEST1_000491"	"g.61723315C>G"	""	"{PMID:Midgley 2024:39676705}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.61955843C>G"	""	"likely pathogenic"	""
"0001026038"	"0"	"70"	"11"	"61723342"	"61723342"	"subst"	"3.4905E-5"	"02327"	"BEST1_000209"	"g.61723342C>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely 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 BEST1
## Count = 2242
"{{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}}"
"0000059529"	"00003366"	"10"	"1699"	"0"	"1699"	"0"	"c.1699C>T"	"r.(?)"	"p.(Leu567Phe)"	"10"
"0000059530"	"00003366"	"50"	"715"	"-7"	"715"	"-6"	"c.715-7_715-6insCTC"	"r.(spl?)"	"p.(?)"	"6i"
"0000247033"	"00003366"	"10"	"153"	"-8"	"153"	"-8"	"c.153-8A>C"	"r.(=)"	"p.(=)"	""
"0000247034"	"00003366"	"10"	"1739"	"272"	"1739"	"272"	"c.1739+272A>C"	"r.(=)"	"p.(=)"	""
"0000247066"	"00003366"	"50"	"128"	"0"	"128"	"0"	"c.128A>G"	"r.(?)"	"p.(Tyr43Cys)"	""
"0000258651"	"00003366"	"10"	"1474"	"0"	"1474"	"0"	"c.1474G>A"	"r.(?)"	"p.(Val492Ile)"	""
"0000258652"	"00003366"	"10"	"1739"	"190"	"1739"	"190"	"c.1739+190G>A"	"r.(=)"	"p.(=)"	""
"0000258653"	"00003366"	"10"	"624"	"0"	"624"	"0"	"c.624G>A"	"r.(?)"	"p.(Gln208=)"	""
"0000258654"	"00003366"	"10"	"637"	"-18"	"637"	"-18"	"c.637-18C>G"	"r.(=)"	"p.(=)"	""
"0000258655"	"00003366"	"30"	"637"	"-6"	"637"	"-6"	"c.637-6C>T"	"r.(=)"	"p.(=)"	""
"0000258656"	"00003366"	"50"	"641"	"0"	"641"	"0"	"c.641T>C"	"r.(?)"	"p.(Met214Thr)"	""
"0000258658"	"00003366"	"30"	"745"	"0"	"745"	"0"	"c.745C>T"	"r.(?)"	"p.(Leu249=)"	""
"0000258659"	"00003366"	"90"	"244"	"0"	"244"	"0"	"c.244C>G"	"r.(?)"	"p.(Leu82Val)"	""
"0000258660"	"00003366"	"90"	"848"	"0"	"850"	"0"	"c.848_850del"	"r.(?)"	"p.(Phe283del)"	""
"0000258661"	"00003366"	"10"	"868"	"-17"	"868"	"-17"	"c.868-17C>A"	"r.(=)"	"p.(=)"	""
"0000259250"	"00003366"	"10"	"109"	"0"	"109"	"0"	"c.109T>C"	"r.(?)"	"p.(Leu37=)"	""
"0000259251"	"00003366"	"10"	"1410"	"0"	"1410"	"0"	"c.1410G>A"	"r.(?)"	"p.(Thr470=)"	""
"0000259252"	"00003366"	"10"	"1608"	"0"	"1608"	"0"	"c.1608T>C"	"r.(?)"	"p.(Thr536=)"	""
"0000259253"	"00003366"	"10"	"219"	"0"	"219"	"0"	"c.219C>A"	"r.(?)"	"p.(Ile73=)"	""
"0000263676"	"00003366"	"10"	"109"	"0"	"109"	"0"	"c.109T>C"	"r.(?)"	"p.(Leu37=)"	""
"0000263677"	"00003366"	"10"	"1410"	"0"	"1410"	"0"	"c.1410G>A"	"r.(?)"	"p.(Thr470=)"	""
"0000263678"	"00003366"	"30"	"1474"	"0"	"1474"	"0"	"c.1474G>A"	"r.(?)"	"p.(Val492Ile)"	""
"0000263679"	"00003366"	"10"	"1608"	"0"	"1608"	"0"	"c.1608T>C"	"r.(?)"	"p.(Thr536=)"	""
"0000263680"	"00003366"	"10"	"1557"	"0"	"1557"	"0"	"c.1557C>T"	"r.(?)"	"p.(Ser519=)"	""
"0000263681"	"00003366"	"90"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000263682"	"00003366"	"30"	"637"	"-6"	"637"	"-6"	"c.637-6C>T"	"r.(=)"	"p.(=)"	""
"0000263683"	"00003366"	"90"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	""
"0000263684"	"00003366"	"10"	"482"	"-24"	"482"	"-24"	"c.482-24C>T"	"r.(=)"	"p.(=)"	""
"0000263685"	"00003366"	"90"	"679"	"0"	"679"	"0"	"c.679T>A"	"r.(?)"	"p.(Tyr227Asn)"	""
"0000263686"	"00003366"	"90"	"860"	"0"	"860"	"0"	"c.860G>A"	"r.(?)"	"p.(Trp287Ter)"	""
"0000338507"	"00003366"	"30"	"637"	"-6"	"637"	"-6"	"c.637-6C>T"	"r.(=)"	"p.(=)"	""
"0000339205"	"00003366"	"10"	"1557"	"0"	"1557"	"0"	"c.1557C>T"	"r.(?)"	"p.(Ser519=)"	""
"0000340299"	"00003366"	"10"	"109"	"0"	"109"	"0"	"c.109T>C"	"r.(?)"	"p.(Leu37=)"	""
"0000340300"	"00003366"	"10"	"201"	"0"	"201"	"0"	"c.201G>C"	"r.(?)"	"p.(Leu67=)"	""
"0000340301"	"00003366"	"10"	"219"	"0"	"219"	"0"	"c.219C>A"	"r.(?)"	"p.(Ile73=)"	""
"0000340302"	"00003366"	"10"	"696"	"0"	"696"	"0"	"c.696C>A"	"r.(?)"	"p.(Ile232=)"	""
"0000340303"	"00003366"	"10"	"1023"	"0"	"1023"	"0"	"c.1023C>T"	"r.(?)"	"p.(Pro341=)"	""
"0000340304"	"00003366"	"10"	"1410"	"0"	"1410"	"0"	"c.1410G>A"	"r.(?)"	"p.(Thr470=)"	""
"0000340305"	"00003366"	"10"	"1608"	"0"	"1608"	"0"	"c.1608T>C"	"r.(?)"	"p.(Thr536=)"	""
"0000341249"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000341295"	"00003366"	"90"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	""
"0000341905"	"00003366"	"70"	"37"	"0"	"37"	"0"	"c.37C>T"	"r.(?)"	"p.(Arg13Cys)"	""
"0000341911"	"00003366"	"90"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000342276"	"00003366"	"90"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	""
"0000342278"	"00003366"	"90"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	""
"0000342448"	"00003366"	"70"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	""
"0000344004"	"00003366"	"90"	"682"	"0"	"682"	"0"	"c.682G>C"	"r.(?)"	"p.(Asp228His)"	""
"0000344045"	"00003366"	"70"	"905"	"0"	"905"	"0"	"c.905A>C"	"r.(?)"	"p.(Asp302Ala)"	""
"0000344046"	"00003366"	"90"	"904"	"0"	"904"	"0"	"c.904G>A"	"r.(?)"	"p.(Asp302Asn)"	""
"0000344054"	"00003366"	"90"	"934"	"0"	"934"	"0"	"c.934G>A"	"r.(?)"	"p.(Asp312Asn)"	""
"0000344740"	"00003366"	"70"	"877"	"0"	"877"	"0"	"c.877C>A"	"r.(?)"	"p.(Gln293Lys)"	""
"0000345707"	"00003366"	"50"	"403"	"0"	"403"	"0"	"c.403G>A"	"r.(?)"	"p.(Gly135Ser)"	""
"0000345968"	"00003366"	"90"	"896"	"0"	"896"	"0"	"c.896G>C"	"r.(?)"	"p.(Gly299Ala)"	""
"0000346682"	"00003366"	"70"	"929"	"0"	"929"	"0"	"c.929T>C"	"r.(?)"	"p.(Ile310Thr)"	""
"0000346891"	"00003366"	"50"	"419"	"0"	"419"	"0"	"c.419T>A"	"r.(?)"	"p.(Leu140Gln)"	""
"0000347067"	"00003366"	"70"	"836"	"0"	"836"	"0"	"c.836T>A"	"r.(?)"	"p.(Leu279Gln)"	""
"0000347319"	"00003366"	"70"	"244"	"0"	"244"	"0"	"c.244C>G"	"r.(?)"	"p.(Leu82Val)"	""
"0000347812"	"00003366"	"70"	"974"	"0"	"974"	"0"	"c.974T>C"	"r.(?)"	"p.(Met325Thr)"	""
"0000348359"	"00003366"	"90"	"889"	"0"	"889"	"0"	"c.889C>T"	"r.(?)"	"p.(Pro297Ser)"	""
"0000349609"	"00003366"	"90"	"16"	"0"	"16"	"0"	"c.16A>C"	"r.(?)"	"p.(Thr6Pro)"	""
"0000349865"	"00003366"	"90"	"279"	"0"	"279"	"0"	"c.279G>C"	"r.(?)"	"p.(Trp93Cys)"	""
"0000349924"	"00003366"	"30"	"443"	"0"	"443"	"0"	"c.443A>T"	"r.(?)"	"p.(Tyr148Phe)"	""
"0000349992"	"00003366"	"90"	"679"	"0"	"679"	"0"	"c.679T>A"	"r.(?)"	"p.(Tyr227Asn)"	""
"0000349997"	"00003366"	"90"	"707"	"0"	"707"	"0"	"c.707A>G"	"r.(?)"	"p.(Tyr236Cys)"	""
"0000350707"	"00003366"	"70"	"25"	"0"	"25"	"0"	"c.25G>A"	"r.(?)"	"p.(Val9Met)"	""
"0000358178"	"00003366"	"90"	"74"	"0"	"74"	"0"	"c.74G>A"	"r.(?)"	"p.(p.Arg25Gln)"	"2"
"0000358179"	"00003366"	"90"	"1415"	"0"	"1415"	"0"	"c.1415del"	"r.(?)"	"p.(Leu472Profs*10)"	"10"
"0000438657"	"00003366"	"90"	"682"	"0"	"682"	"0"	"c.682G>A"	"r.(?)"	"p.(Asp228Asn)"	""
"0000438666"	"00003366"	"90"	"1669"	"0"	"1669"	"0"	"c.1669G>A"	"r.(?)"	"p.(Glu557Lys)"	""
"0000477009"	"00003366"	"50"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000477010"	"00003366"	"90"	"665"	"0"	"665"	"0"	"c.665G>A"	"r.(?)"	"p.(Gly222Glu)"	""
"0000477011"	"00003366"	"90"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255Trp)"	""
"0000477012"	"00003366"	"50"	"1037"	"0"	"1037"	"0"	"c.1037C>A"	"r.(?)"	"p.(Pro346His)"	""
"0000477013"	"00003366"	"10"	"1070"	"0"	"1070"	"0"	"c.1070C>T"	"r.(?)"	"p.(Ala357Val)"	""
"0000477014"	"00003366"	"50"	"1592"	"0"	"1592"	"0"	"c.1592A>C"	"r.(?)"	"p.(Gln531Pro)"	""
"0000477015"	"00003366"	"50"	"1739"	"120"	"1739"	"120"	"c.1739+120T>C"	"r.(=)"	"p.(=)"	""
"0000477016"	"00003366"	"50"	"1739"	"188"	"1739"	"188"	"c.1739+188T>C"	"r.(=)"	"p.(=)"	""
"0000477580"	"00003366"	"90"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255Trp)"	""
"0000544694"	"00003366"	"70"	"47"	"0"	"47"	"0"	"c.47C>A"	"r.(?)"	"p.(Ser16Tyr)"	""
"0000544695"	"00003366"	"70"	"287"	"0"	"287"	"0"	"c.287A>G"	"r.(?)"	"p.(Gln96Arg)"	""
"0000544696"	"00003366"	"50"	"292"	"0"	"292"	"0"	"c.292G>A"	"r.(?)"	"p.(Glu98Lys)"	""
"0000544697"	"00003366"	"50"	"293"	"0"	"293"	"0"	"c.293A>G"	"r.(?)"	"p.(Glu98Gly)"	""
"0000544698"	"00003366"	"50"	"449"	"0"	"449"	"0"	"c.449G>C"	"r.(?)"	"p.(Arg150Pro)"	""
"0000544699"	"00003366"	"50"	"481"	"82"	"481"	"82"	"c.481+82A>G"	"r.(=)"	"p.(=)"	""
"0000544700"	"00003366"	"70"	"604"	"0"	"604"	"0"	"c.604C>T"	"r.(?)"	"p.(Arg202Trp)"	""
"0000544701"	"00003366"	"30"	"624"	"0"	"624"	"0"	"c.624G>A"	"r.(?)"	"p.(Gln208=)"	""
"0000544702"	"00003366"	"10"	"715"	"-12"	"715"	"-4"	"c.715-12_715-4dup"	"r.spl?"	"p.?"	""
"0000544703"	"00003366"	"30"	"715"	"-12"	"715"	"-4"	"c.715-12_715-4dup"	"r.spl?"	"p.?"	""
"0000544704"	"00003366"	"10"	"715"	"-9"	"715"	"-4"	"c.715-9_715-4dup"	"r.spl?"	"p.?"	""
"0000544705"	"00003366"	"50"	"764"	"0"	"764"	"0"	"c.764G>A"	"r.(?)"	"p.(Arg255Gln)"	""
"0000544706"	"00003366"	"50"	"867"	"187"	"867"	"187"	"c.867+187G>A"	"r.(=)"	"p.(=)"	""
"0000544707"	"00003366"	"90"	"889"	"0"	"889"	"0"	"c.889C>T"	"r.(?)"	"p.(Pro297Ser)"	""
"0000544708"	"00003366"	"10"	"999"	"0"	"999"	"0"	"c.999G>A"	"r.(?)"	"p.(Glu333=)"	""
"0000544709"	"00003366"	"50"	"1054"	"0"	"1054"	"0"	"c.1054G>A"	"r.(?)"	"p.(Ala352Thr)"	""
"0000544710"	"00003366"	"50"	"1403"	"0"	"1403"	"0"	"c.1403C>T"	"r.(?)"	"p.(Pro468Leu)"	""
"0000544711"	"00003366"	"30"	"1518"	"0"	"1518"	"0"	"c.1518T>C"	"r.(?)"	"p.(Ser506=)"	""
"0000544712"	"00003366"	"30"	"1669"	"0"	"1669"	"0"	"c.1669G>A"	"r.(?)"	"p.(Glu557Lys)"	""
"0000544713"	"00003366"	"30"	"1669"	"0"	"1669"	"0"	"c.1669G>A"	"r.(?)"	"p.(Glu557Lys)"	""
"0000595592"	"00003366"	"70"	"693"	"0"	"693"	"0"	"c.693T>A"	"r.(?)"	"p.(Ser231Arg)"	""
"0000613469"	"00003366"	"90"	"17"	"0"	"17"	"0"	"c.17C>G"	"r.(?)"	"p.(Thr6Arg)"	""
"0000613470"	"00003366"	"50"	"302"	"0"	"302"	"0"	"c.302C>G"	"r.(?)"	"p.(Pro101Arg)"	""
"0000613471"	"00003366"	"50"	"449"	"0"	"449"	"0"	"c.449G>C"	"r.(?)"	"p.(Arg150Pro)"	""
"0000613472"	"00003366"	"50"	"912"	"0"	"912"	"0"	"c.912T>G"	"r.(?)"	"p.(Asp304Glu)"	""
"0000613473"	"00003366"	"90"	"970"	"0"	"970"	"0"	"c.970G>T"	"r.(?)"	"p.(Glu324Ter)"	""
"0000613474"	"00003366"	"50"	"1403"	"0"	"1403"	"0"	"c.1403C>T"	"r.(?)"	"p.(Pro468Leu)"	""
"0000613475"	"00003366"	"30"	"1455"	"0"	"1455"	"0"	"c.1455G>A"	"r.(?)"	"p.(Ala485=)"	""
"0000613476"	"00003366"	"30"	"1519"	"0"	"1519"	"0"	"c.1519T>C"	"r.(?)"	"p.(Ser507Pro)"	""
"0000613477"	"00003366"	"90"	"1622"	"0"	"1622"	"0"	"c.1622del"	"r.(?)"	"p.(Leu541ArgfsTer68)"	""
"0000613478"	"00003366"	"50"	"5269"	"0"	"5269"	"0"	"c.*3511G>A"	"r.(=)"	"p.(=)"	""
"0000613479"	"00003366"	"50"	"5282"	"0"	"5282"	"0"	"c.*3524C>T"	"r.(=)"	"p.(=)"	""
"0000622653"	"00003366"	"90"	"244"	"0"	"244"	"0"	"c.244C>G"	"r.(?)"	"p.(Leu82Val)"	""
"0000648316"	"00003366"	"50"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000648317"	"00003366"	"10"	"1023"	"0"	"1023"	"0"	"c.1023C>T"	"r.(=)"	"p.(=)"	""
"0000659724"	"00003366"	"90"	"182"	"0"	"182"	"0"	"c.182del"	"r.(?)"	"p.(Met61Serfs*5)"	""
"0000664807"	"00003366"	"50"	"1609"	"0"	"1609"	"0"	"c.1609G>A"	"r.(?)"	"p.(Val537Met)"	""
"0000664810"	"00003366"	"70"	"910"	"0"	"912"	"0"	"c.910_912del"	"r.(?)"	"p.(Asp304del)"	""
"0000673636"	"00003366"	"90"	"671"	"0"	"671"	"0"	"c.671T>C"	"r.(?)"	"p.(Leu224Pro)"	""
"0000673654"	"00003366"	"70"	"277"	"0"	"283"	"0"	"c.277_283delinsCGGTTGG"	"r.(?)"	"p.(Trp93_Asn95delinsArgLeuAsp)"	""
"0000679235"	"00003366"	"50"	"1067"	"0"	"1067"	"0"	"c.1067G>T"	"r.(?)"	"p.(Arg356Leu)"	""
"0000684426"	"00003366"	"50"	"256"	"0"	"256"	"0"	"c.256G>A"	"r.(?)"	"p.(Val86Met)"	"4"
"0000684499"	"00003366"	"70"	"89"	"0"	"89"	"0"	"c.89A>G"	"r.(?)"	"p.(Lys30Arg)"	""
"0000684500"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000684501"	"00003366"	"70"	"403"	"0"	"403"	"0"	"c.403G>A"	"r.(?)"	"p.(Gly135Ser)"	""
"0000684502"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000684503"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	""
"0000684504"	"00003366"	"70"	"703"	"0"	"703"	"0"	"c.703G>T"	"r.(?)"	"p.(Val235Leu)"	""
"0000684505"	"00003366"	"70"	"874"	"0"	"874"	"0"	"c.874G>A"	"r.(?)"	"p.(Glu292Lys)"	""
"0000684619"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000684620"	"00003366"	"70"	"403"	"0"	"403"	"0"	"c.403G>A"	"r.(?)"	"p.(Gly135Ser)"	""
"0000684651"	"00003366"	"70"	"974"	"0"	"974"	"0"	"c.974T>C"	"r.(?)"	"p.(Met325Thr)"	""
"0000684692"	"00003366"	"70"	"888"	"0"	"888"	"0"	"c.888C>A"	"r.(?)"	"p.(Asn296Lys)"	""
"0000684782"	"00003366"	"30"	"1070"	"0"	"1070"	"0"	"c.1070C>T"	"r.(?)"	"p.(Ala357Val)"	""
"0000685028"	"00003366"	"70"	"404"	"0"	"404"	"0"	"c.404G>A"	"r.?"	"p.(Gly135Asp)"	""
"0000685029"	"00003366"	"70"	"29"	"0"	"29"	"0"	"c.29C>T"	"r.(?)"	"p.(Ala10Val)"	""
"0000685030"	"00003366"	"90"	"74"	"0"	"74"	"0"	"c.74G>A"	"r.(?)"	"p.(Arg25Gln)"	""
"0000685031"	"00003366"	"70"	"218"	"0"	"218"	"0"	"c.218T>A"	"r.(?)"	"p.(Ile73Asn)"	""
"0000685032"	"00003366"	"90"	"294"	"0"	"294"	"0"	"c.294G>C"	"r.(?)"	"p.(Glu98Asp)"	""
"0000685033"	"00003366"	"70"	"324"	"0"	"324"	"0"	"c.324C>G"	"r.(?)"	"p.(Ser108Arg)"	""
"0000685034"	"00003366"	"70"	"404"	"0"	"404"	"0"	"c.404G>A"	"r.(?)"	"p.(Gly135Asp)"	""
"0000685035"	"00003366"	"70"	"620"	"0"	"620"	"0"	"c.620T>A"	"r.(?)"	"p.(Leu207His)"	""
"0000685036"	"00003366"	"90"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	""
"0000685037"	"00003366"	"70"	"665"	"0"	"665"	"0"	"c.665G>T"	"r.(?)"	"p.(Gly222Val)"	""
"0000685038"	"00003366"	"70"	"874"	"0"	"874"	"0"	"c.874G>A"	"r.(?)"	"p.(Glu292Lys)"	""
"0000685039"	"00003366"	"90"	"887"	"0"	"887"	"0"	"c.887A>G"	"r.(?)"	"p.(Asn296Ser)"	""
"0000685040"	"00003366"	"90"	"908"	"0"	"908"	"0"	"c.908A>T"	"r.(?)"	"p.(Asp303Val)"	""
"0000685041"	"00003366"	"90"	"1415"	"0"	"1415"	"0"	"c.1415del"	"r.(?)"	"p.(Leu472Profs*10)"	""
"0000685573"	"00003366"	"70"	"967"	"0"	"967"	"0"	"c.967G>A"	"r.?"	"p.(Asp323Asn)"	""
"0000691104"	"00003366"	"50"	"1014"	"0"	"1015"	"0"	"c.1014_1015delinsCT"	"r.(?)"	"p.(Trp338_Asn339delinsCysTyr)"	""
"0000699302"	"00003366"	"50"	"1063"	"0"	"1063"	"0"	"c.1063C>T"	"r.(?)"	"p.(Arg355Cys)"	""
"0000710255"	"00003366"	"90"	"851"	"0"	"851"	"0"	"c.851A>G"	"r.(?)"	"p.(Tyr284Cys)"	""
"0000713529"	"00003366"	"90"	"-37"	"1"	"-37"	"1"	"c.-37+1G>T"	"r.spl?"	"p.?"	""
"0000713591"	"00003366"	"90"	"282"	"0"	"293"	"0"	"c.282_293del"	"r.(?)"	"p.(Gln96_Asn99del)"	""
"0000713989"	"00003366"	"50"	"867"	"79"	"867"	"79"	"c.867+79C>A"	"r.(?)"	"p.?"	""
"0000713990"	"00003366"	"50"	"1409"	"0"	"1409"	"0"	"c.1409C>T"	"r.(?)"	"p.(Thr470Met)"	""
"0000713991"	"00003366"	"50"	"1739"	"240"	"1739"	"240"	"c.1739+240C>G"	"r.(?)"	"p.?"	""
"0000723520"	"00003366"	"90"	"16"	"0"	"16"	"0"	"c.16A>C"	"r.(?)"	"p.(Thr6Pro)"	""
"0000723521"	"00003366"	"90"	"679"	"0"	"679"	"0"	"c.679T>A"	"r.(?)"	"p.(Tyr227Asn)"	""
"0000723522"	"00003366"	"70"	"1659"	"0"	"1659"	"0"	"c.1659dup"	"r.(?)"	"p.(Glu554Argfs*29)"	""
"0000730606"	"00003366"	"90"	"934"	"0"	"934"	"0"	"c.934G>A"	"r.(?)"	"p.(Asp312Asn)"	"8"
"0000730607"	"00003366"	"90"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	"4"
"0000730608"	"00003366"	"90"	"956"	"0"	"956"	"0"	"c.956T>C"	"r.(?)"	"p.(Leu319Pro)"	"9"
"0000730609"	"00003366"	"90"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	"4"
"0000730610"	"00003366"	"90"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	"5"
"0000730657"	"00003366"	"90"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	"7"
"0000730658"	"00003366"	"90"	"25"	"0"	"25"	"0"	"c.25G>A"	"r.(?)"	"p.(Val9Met)"	"2"
"0000730659"	"00003366"	"90"	"17"	"0"	"17"	"0"	"c.17C>T"	"r.(?)"	"p.(Thr6Ile)"	"2"
"0000730660"	"00003366"	"90"	"299"	"0"	"299"	"0"	"c.299T>G"	"r.(?)"	"p.(Leu100Arg)"	"4"
"0000730661"	"00003366"	"90"	"684"	"0"	"684"	"0"	"c.684C>G"	"r.(?)"	"p.(Asp228Glu)"	"6"
"0000730662"	"00003366"	"90"	"934"	"0"	"934"	"0"	"c.934G>A"	"r.(?)"	"p.(Asp312Asn)"	"8"
"0000730663"	"00003366"	"90"	"903"	"0"	"903"	"0"	"c.903T>G"	"r.(?)"	"p.(Asp301Glu)"	"8"
"0000730664"	"00003366"	"90"	"62"	"0"	"62"	"0"	"c.62T>G"	"r.(?)"	"p.(Leu21Arg)"	"2"
"0000730665"	"00003366"	"90"	"934"	"0"	"934"	"0"	"c.934G>A"	"r.(?)"	"p.(Asp312Asn)"	"8"
"0000730666"	"00003366"	"90"	"428"	"0"	"428"	"0"	"c.428T>C"	"r.(?)"	"p.(Val143Ala)"	"4"
"0000730667"	"00003366"	"90"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"2"
"0000730668"	"00003366"	"90"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	"7"
"0000730669"	"00003366"	"90"	"37"	"0"	"37"	"0"	"c.37C>T"	"r.(?)"	"p.(Arg13Cys)"	"2"
"0000730670"	"00003366"	"90"	"671"	"0"	"671"	"0"	"c.671T>C"	"r.(?)"	"p.(Leu224Pro)"	"6"
"0000730788"	"00003366"	"90"	"934"	"0"	"934"	"0"	"c.934G>A"	"r.(?)"	"p.(Asp312Asn)"	"8"
"0000730789"	"00003366"	"90"	"636"	"1"	"636"	"1"	"c.636+1G>A"	"r.spl"	"p.?"	"5i"
"0000731491"	"00003366"	"70"	"302"	"0"	"302"	"0"	"c.302C>T"	"r.(?)"	"p.(Pro101Leu)"	""
"0000731515"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000732709"	"00003366"	"70"	"1037"	"0"	"1037"	"0"	"c.1037C>A"	"r.(?)"	"p.(Pro346His)"	""
"0000732915"	"00003366"	"70"	"679"	"0"	"679"	"0"	"c.679T>A"	"r.(?)"	"p.(Tyr227Asn)"	""
"0000732916"	"00003366"	"70"	"679"	"0"	"679"	"0"	"c.679T>A"	"r.(?)"	"p.(Tyr227Asn)"	""
"0000732917"	"00003366"	"70"	"679"	"0"	"679"	"0"	"c.679T>A"	"r.(?)"	"p.(Tyr227Asn)"	""
"0000732918"	"00003366"	"70"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	""
"0000732919"	"00003366"	"70"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	""
"0000732920"	"00003366"	"70"	"684"	"0"	"684"	"0"	"c.684C>G"	"r.(?)"	"p.(Asp228Glu)"	""
"0000732921"	"00003366"	"70"	"89"	"0"	"89"	"0"	"c.89A>G"	"r.(?)"	"p.(Lys30Arg)"	""
"0000732922"	"00003366"	"70"	"89"	"0"	"89"	"0"	"c.89A>G"	"r.(?)"	"p.(Lys30Arg)"	""
"0000732923"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	""
"0000732924"	"00003366"	"70"	"399"	"0"	"399"	"0"	"c.399C>G"	"r.(?)"	"p.(Asn133Lys)"	""
"0000732925"	"00003366"	"70"	"905"	"0"	"905"	"0"	"c.905A>C"	"r.(?)"	"p.(Asp302Ala)"	""
"0000732926"	"00003366"	"70"	"286"	"0"	"286"	"0"	"c.286C>G"	"r.(?)"	"p.(Gln96Glu)"	""
"0000732927"	"00003366"	"70"	"900"	"0"	"900"	"0"	"c.900G>C"	"r.(?)"	"p.(Glu300Asp)"	""
"0000732928"	"00003366"	"70"	"898"	"0"	"898"	"0"	"c.898G>A"	"r.(?)"	"p.(Glu300Lys)"	""
"0000732929"	"00003366"	"70"	"884"	"0"	"886"	"0"	"c.884_886del"	"r.(?)"	"p.(Ile295del)"	""
"0000732930"	"00003366"	"70"	"302"	"0"	"302"	"0"	"c.302C>T"	"r.(?)"	"p.(Pro101Leu)"	""
"0000732931"	"00003366"	"70"	"722"	"0"	"722"	"0"	"c.722C>A"	"r.(?)"	"p.(Thr241Asn)"	""
"0000732932"	"00003366"	"70"	"680"	"0"	"680"	"0"	"c.680A>G"	"r.(?)"	"p.(Tyr227Cys)"	""
"0000733346"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000733498"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000733499"	"00003366"	"70"	"684"	"0"	"684"	"0"	"c.684C>G"	"r.(?)"	"p.(Asp228Glu)"	""
"0000733500"	"00003366"	"70"	"779"	"0"	"779"	"0"	"c.779del"	"r.(?)"	"p.(Pro260Glnfs*29)"	""
"0000733501"	"00003366"	"70"	"103"	"0"	"103"	"0"	"c.103G>A"	"r.(?)"	"p.(Glu35Lys)"	""
"0000733502"	"00003366"	"70"	"665"	"0"	"665"	"0"	"c.665G>T"	"r.(?)"	"p.(Gly222Val)"	""
"0000733503"	"00003366"	"70"	"102"	"0"	"102"	"0"	"c.102C>T"	"r.(?)"	"p.(Gly34=)"	""
"0000733724"	"00003366"	"70"	"1066"	"0"	"1066"	"0"	"c.1066C>T"	"r.(?)"	"p.(Arg356*)"	""
"0000733872"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000733873"	"00003366"	"70"	"777"	"0"	"778"	"0"	"c.777_778insAA"	"r.(?)"	"p.(Pro260Asnfs*30)"	""
"0000733874"	"00003366"	"70"	"1120"	"0"	"1120"	"0"	"c.1120dup"	"r.(?)"	"p.(Glu374Glyfs*27)"	""
"0000733875"	"00003366"	"70"	"779"	"0"	"779"	"0"	"c.779del"	"r.(?)"	"p.(Pro260Glnfs*29)"	""
"0000733876"	"00003366"	"70"	"883"	"0"	"883"	"0"	"c.883A>C"	"r.(?)"	"p.(Ile295Leu)"	""
"0000734333"	"00003366"	"70"	"362"	"0"	"362"	"0"	"c.362G>C"	"r.(?)"	"p.(Gly121Ala)"	""
"0000734711"	"00003366"	"50"	"624"	"0"	"624"	"0"	"c.624G>A"	"r.(?)"	"p.(Gln208=)"	""
"0000735182"	"00003366"	"50"	"1633"	"0"	"1633"	"0"	"c.1633C>A"	"r.(?)"	"p.(Pro545Thr)"	""
"0000735593"	"00003366"	"90"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000735594"	"00003366"	"90"	"889"	"0"	"889"	"0"	"c.889C>T"	"r.(?)"	"p.(Pro297Ser)"	""
"0000735836"	"00003366"	"70"	"799"	"0"	"799"	"0"	"c.799del"	"r.(?)"	"p.(His267MetfsTer22)"	""
"0000736101"	"00003366"	"70"	"1070"	"0"	"1070"	"0"	"c.1070C>T"	"r.(?)"	"p.(Ala357Val)"	""
"0000736162"	"00003366"	"90"	"670"	"0"	"670"	"0"	"c.670C>A"	"r.(?)"	"p.(Leu224Met)"	""
"0000736163"	"00003366"	"90"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000736164"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000736193"	"00003366"	"90"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	"2"
"0000736194"	"00003366"	"90"	"80"	"0"	"80"	"0"	"c.80G>C"	"r.(?)"	"p.(Ser27Thr)"	"2"
"0000736195"	"00003366"	"90"	"80"	"0"	"80"	"0"	"c.80G>C"	"r.(?)"	"p.(Ser27Thr)"	"2"
"0000736196"	"00003366"	"90"	"80"	"0"	"80"	"0"	"c.80G>C"	"r.(?)"	"p.(Ser27Thr)"	"2"
"0000736519"	"00003366"	"90"	"279"	"0"	"279"	"0"	"c.279G>C"	"r.(?)"	"p.(Trp93Cys)"	""
"0000736558"	"00003366"	"90"	"279"	"0"	"279"	"0"	"c.279G>C"	"r.(?)"	"p.(Trp93Cys)"	""
"0000736630"	"00003366"	"70"	"332"	"0"	"332"	"0"	"c.332C>T"	"r.(?)"	"p.(Ser111Leu)"	"4"
"0000736631"	"00003366"	"70"	"821"	"0"	"821"	"0"	"c.821C>G"	"r.(?)"	"p.(Pro274Arg)"	"7"
"0000759577"	"00003366"	"90"	"421"	"0"	"421"	"0"	"c.421C>A"	"r.(?)"	"p.(Arg141Ser)"	""
"0000759613"	"00003366"	"90"	"602"	"0"	"602"	"0"	"c.602T>C"	"r.(?)"	"p.(Ile201Thr)"	""
"0000759891"	"00003366"	"90"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000759935"	"00003366"	"90"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000759936"	"00003366"	"90"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	""
"0000760051"	"00003366"	"50"	"1037"	"0"	"1037"	"0"	"c.1037C>A"	"r.(?)"	"p.(Pro346His)"	""
"0000760336"	"00003366"	"70"	"848"	"0"	"850"	"0"	"c.848_850del"	"r.(?)"	"p.(Phe283del)"	""
"0000760356"	"00003366"	"70"	"877"	"0"	"877"	"0"	"c.877C>A"	"r.(?)"	"p.(Gln293Lys)"	""
"0000760367"	"00003366"	"70"	"302"	"0"	"302"	"0"	"c.302C>T"	"r.(?)"	"p.(Pro101Leu)"	""
"0000760510"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000760727"	"00003366"	"30"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	""
"0000760728"	"00003366"	"30"	"109"	"0"	"109"	"0"	"c.109T>C"	"r.(=)"	"p.(=)"	"2"
"0000760729"	"00003366"	"30"	"213"	"0"	"213"	"0"	"c.213C>T"	"r.(=)"	"p.(=)"	"3"
"0000760730"	"00003366"	"30"	"219"	"0"	"219"	"0"	"c.219C>A"	"r.(=)"	"p.(=)"	"3"
"0000760731"	"00003366"	"30"	"586"	"-128"	"586"	"-128"	"c.586-128C>T"	"r.spl?"	"p.?"	"4i"
"0000760732"	"00003366"	"30"	"740"	"28"	"740"	"28"	"c.740+28C>T"	"r.spl?"	"p.?"	"7"
"0000760733"	"00003366"	"30"	"715"	"-19"	"715"	"-19"	"c.715-19delinsCTCCTCCTCC"	"r.(?)"	"p.(=)"	"6i"
"0000760734"	"00003366"	"30"	"1052"	"79"	"1052"	"79"	"c.1052+79G>A"	"r.spl?"	"p.?"	"9i"
"0000760735"	"00003366"	"30"	"1023"	"0"	"1023"	"0"	"c.1023C>T"	"r.(=)"	"p.(=)"	"9"
"0000760736"	"00003366"	"30"	"1410"	"0"	"1410"	"0"	"c.1410G>A"	"r.(=)"	"p.(=)"	"10"
"0000760737"	"00003366"	"30"	"1557"	"0"	"1557"	"0"	"c.1557C>T"	"r.(=)"	"p.(=)"	"10"
"0000760738"	"00003366"	"30"	"1608"	"0"	"1608"	"0"	"c.1608T>C"	"r.(=)"	"p.(=)"	"10"
"0000760740"	"00003366"	"30"	"109"	"0"	"109"	"0"	"c.109T>C"	"r.(=)"	"p.(=)"	"2"
"0000760741"	"00003366"	"30"	"1410"	"0"	"1410"	"0"	"c.1410G>A"	"r.(=)"	"p.(=)"	"10"
"0000760742"	"00003366"	"30"	"1608"	"0"	"1608"	"0"	"c.1608T>C"	"r.(=)"	"p.(=)"	"10"
"0000764610"	"00003366"	"70"	"86"	"0"	"86"	"0"	"c.86A>G"	"r.(?)"	"p.(Tyr29Cys)"	"2"
"0000764611"	"00003366"	"70"	"572"	"0"	"572"	"0"	"c.572T>C"	"r.(?)"	"p.(Leu191Pro)"	"5"
"0000764612"	"00003366"	"70"	"651"	"0"	"651"	"0"	"c.651G>T"	"r.(?)"	"p.(Leu217Phe)"	"6"
"0000764613"	"00003366"	"70"	"860"	"0"	"860"	"0"	"c.860G>A"	"r.(?)"	"p.(Trp287*)"	"7"
"0000764614"	"00003366"	"70"	"886"	"0"	"886"	"0"	"c.886A>G"	"r.(?)"	"p.(Asn296Asp)"	"8"
"0000764883"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000764885"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	""
"0000765452"	"00003366"	"70"	"868"	"0"	"868"	"0"	"c.868G>A"	"r.(?)"	"p.(Val290Met)"	""
"0000765768"	"00003366"	"70"	"848"	"0"	"850"	"0"	"c.848_850del"	"r.(?)"	"p.(Phe283del)"	""
"0000765942"	"00003366"	"70"	"205"	"0"	"205"	"0"	"c.205T>C"	"r.(?)"	"p.(Cys69Arg)"	""
"0000765943"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>A"	"r.(?)"	"p.(Arg218Ser)"	""
"0000765944"	"00003366"	"70"	"698"	"0"	"698"	"0"	"c.698C>T"	"r.(?)"	"p.(Pro233Leu)"	""
"0000765945"	"00003366"	"70"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255Trp)"	""
"0000765946"	"00003366"	"70"	"910"	"0"	"912"	"0"	"c.910_912del"	"r.(?)"	"p.(Asp304del)"	""
"0000765947"	"00003366"	"70"	"436"	"0"	"436"	"0"	"c.436G>T"	"r.(?)"	"p.(Ala146Ser)"	""
"0000765948"	"00003366"	"70"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255Trp)"	""
"0000784427"	"00003366"	"50"	"1169"	"0"	"1169"	"0"	"c.1169T>C"	"r.(?)"	"p.(Ile390Thr)"	""
"0000784439"	"00003366"	"50"	"1070"	"0"	"1070"	"0"	"c.1070C>T"	"r.(?)"	"p.(Ala357Val)"	""
"0000784493"	"00003366"	"50"	"1070"	"0"	"1070"	"0"	"c.1070C>T"	"r.(?)"	"p.(Ala357Val)"	""
"0000784495"	"00003366"	"50"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	""
"0000785381"	"00003366"	"90"	"682"	"0"	"682"	"0"	"c.682G>C"	"r.(?)"	"p.(Asp228His)"	""
"0000785536"	"00003366"	"50"	"1063"	"0"	"1063"	"0"	"c.1063C>T"	"r.(?)"	"p.(Arg355Cys)"	""
"0000785599"	"00003366"	"90"	"830"	"0"	"830"	"0"	"c.830C>T"	"r.(?)"	"p.(Thr277Met)"	""
"0000786397"	"00003366"	"90"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	""
"0000786398"	"00003366"	"90"	"89"	"0"	"89"	"0"	"c.89A>G"	"r.(?)"	"p.(Lys30Arg)"	""
"0000786430"	"00003366"	"90"	"72"	"0"	"72"	"0"	"c.72G>A"	"r.(?)"	"p.(Trp24Ter)"	""
"0000786486"	"00003366"	"90"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000788132"	"00003366"	"70"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255Trp)"	""
"0000788442"	"00003366"	"50"	"1037"	"0"	"1037"	"0"	"c.1037C>A"	"r.(?)"	"p.(Pro346His)"	"9"
"0000788571"	"00003366"	"50"	"28"	"0"	"28"	"0"	"c.28G>A"	"r.(?)"	"p.(Ala10Thr)"	"2"
"0000788572"	"00003366"	"50"	"47"	"0"	"47"	"0"	"c.47C>T"	"r.(?)"	"p.(Ser16Phe)"	"2"
"0000788573"	"00003366"	"50"	"72"	"0"	"72"	"0"	"c.72G>T"	"r.(?)"	"p.(Trp24Cys)"	"2"
"0000788574"	"00003366"	"50"	"240"	"0"	"240"	"0"	"c.240C>A"	"r.(?)"	"p.(Phe80Leu)"	"3"
"0000788575"	"00003366"	"50"	"240"	"0"	"240"	"0"	"c.240C>A"	"r.(?)"	"p.(Phe80Leu)"	"3"
"0000788576"	"00003366"	"50"	"248"	"0"	"248"	"0"	"c.248G>C"	"r.(?)"	"p.(Gly83Ala)"	"4"
"0000788577"	"00003366"	"50"	"277"	"0"	"277"	"0"	"c.277T>C"	"r.(?)"	"p.(Trp93Arg)"	"4"
"0000788578"	"00003366"	"50"	"279"	"0"	"279"	"0"	"c.279G>C"	"r.(?)"	"p.(Trp93Cys)"	"4"
"0000788579"	"00003366"	"50"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"6"
"0000788580"	"00003366"	"50"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"6"
"0000788581"	"00003366"	"50"	"680"	"0"	"680"	"0"	"c.680A>G"	"r.(?)"	"p.(Tyr227Cys)"	"6"
"0000788582"	"00003366"	"50"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	"6"
"0000788583"	"00003366"	"50"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	"6"
"0000788584"	"00003366"	"50"	"727"	"0"	"727"	"0"	"c.727G>A"	"r.(?)"	"p.(Ala243Thr)"	"7"
"0000788585"	"00003366"	"50"	"727"	"0"	"727"	"0"	"c.727G>A"	"r.(?)"	"p.(Ala243Thr)"	"7"
"0000788586"	"00003366"	"50"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	"7"
"0000788587"	"00003366"	"50"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	"7"
"0000788588"	"00003366"	"50"	"880"	"0"	"880"	"0"	"c.880C>T"	"r.(?)"	"p.(Leu294Phe)"	"8"
"0000788589"	"00003366"	"50"	"887"	"0"	"887"	"0"	"c.887A>G"	"r.(?)"	"p.(Asn296Ser)"	"8"
"0000788590"	"00003366"	"50"	"903"	"0"	"903"	"0"	"c.903T>G"	"r.(?)"	"p.(Asp301Glu)"	"8"
"0000788591"	"00003366"	"50"	"903"	"0"	"903"	"0"	"c.903T>G"	"r.(?)"	"p.(Asp301Glu)"	"8"
"0000788592"	"00003366"	"50"	"910"	"0"	"910"	"0"	"c.910G>A"	"r.(?)"	"p.(Asp304Asn)"	"8"
"0000788593"	"00003366"	"50"	"925"	"0"	"925"	"0"	"c.925T>C"	"r.(?)"	"p.(Trp309Arg)"	"8"
"0000788594"	"00003366"	"50"	"929"	"0"	"929"	"0"	"c.929T>C"	"r.(?)"	"p.(Ile310Thr)"	"8"
"0000788595"	"00003366"	"50"	"250"	"0"	"250"	"0"	"c.250T>G"	"r.(?)"	"p.(Phe84Val)"	"4"
"0000790486"	"00003366"	"50"	"714"	"13"	"714"	"13"	"c.714+13C>T"	"r.?"	"p.?"	""
"0000790548"	"00003366"	"50"	"619"	"0"	"619"	"0"	"c.619C>A"	"r.(?)"	"p.(Leu207Ile)"	""
"0000790661"	"00003366"	"50"	"1474"	"0"	"1474"	"0"	"c.1474G>A"	"r.(?)"	"p.(Val492Ile)"	""
"0000791192"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"6"
"0000791193"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"6"
"0000791421"	"00003366"	"70"	"682"	"0"	"682"	"0"	"c.682G>A"	"r.(?)"	"p.(Asp228Asn)"	"6"
"0000791422"	"00003366"	"70"	"682"	"0"	"682"	"0"	"c.682G>A"	"r.(?)"	"p.(Asp228Asn)"	"6"
"0000791593"	"00003366"	"70"	"682"	"0"	"682"	"0"	"c.682G>T"	"r.(?)"	"p.(Asp228Tyr)"	"6"
"0000792115"	"00003366"	"90"	"536"	"0"	"538"	"0"	"c.536_538del"	"r.(?)"	"p.(Asn179del)"	""
"0000792116"	"00003366"	"90"	"388"	"0"	"388"	"0"	"c.388C>A"	"r.(?)"	"p.(Arg130Ser)"	"4"
"0000792117"	"00003366"	"90"	"301"	"0"	"301"	"0"	"c.301C>A"	"r.(?)"	"p.(Pro101Thr)"	"4"
"0000792118"	"00003366"	"90"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	"6"
"0000792119"	"00003366"	"90"	"884"	"0"	"884"	"0"	"c.884T>C"	"r.(?)"	"p.(Ile295Thr)"	"8"
"0000792120"	"00003366"	"90"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	"6"
"0000792121"	"00003366"	"70"	"238"	"0"	"238"	"0"	"c.238T>G"	"r.(?)"	"p.(Phe80Val)"	"3"
"0000792122"	"00003366"	"90"	"880"	"0"	"880"	"0"	"c.880C>G"	"r.(?)"	"p.(Leu294Val)"	"8"
"0000792123"	"00003366"	"90"	"884"	"0"	"884"	"0"	"c.884T>C"	"r.(?)"	"p.(Ile295Thr)"	"8"
"0000792124"	"00003366"	"90"	"253"	"0"	"253"	"0"	"c.253T>C"	"r.(?)"	"p.(Tyr85His)"	"4"
"0000792125"	"00003366"	"90"	"355"	"0"	"355"	"0"	"c.355G>C"	"r.(?)"	"p.(Glu119Gln)"	"4"
"0000792126"	"00003366"	"90"	"217"	"0"	"217"	"0"	"c.217A>T"	"r.(?)"	"p.(Ile73Phe)"	"3"
"0000792127"	"00003366"	"70"	"25"	"0"	"25"	"0"	"c.25G>Y"	"r.(?)"	"p.?"	""
"0000792128"	"00003366"	"90"	"884"	"0"	"884"	"0"	"c.884T>C"	"r.(?)"	"p.(Ile295Thr)"	"8"
"0000792129"	"00003366"	"90"	"905"	"0"	"905"	"0"	"c.905A>C"	"r.(?)"	"p.(Asp302Ala)"	"8"
"0000792130"	"00003366"	"70"	"893"	"0"	"893"	"0"	"c.893T>G"	"r.(?)"	"p.(Phe298Cys)"	"8"
"0000792242"	"00003366"	"90"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	"2"
"0000793792"	"00003366"	"70"	"946"	"0"	"946"	"0"	"c.946C>A"	"r.(?)"	"p.(Gln316Lys)"	"8"
"0000793793"	"00003366"	"70"	"1229"	"0"	"1229"	"0"	"c.1229C>T"	"r.(?)"	"p.(Thr410Ile)"	"10"
"0000793794"	"00003366"	"70"	"1799"	"0"	"1799"	"0"	"c.*41C>G"	"r.(=)"	"p.(=)"	"11"
"0000793936"	"00003366"	"70"	"632"	"0"	"632"	"0"	"c.632T>C"	"r.(?)"	"p.(Leu211Pro)"	""
"0000793937"	"00003366"	"70"	"830"	"0"	"830"	"0"	"c.830C>T"	"r.(?)"	"p.(Thr277Met)"	""
"0000794287"	"00003366"	"70"	"449"	"0"	"449"	"0"	"c.449G>T"	"r.(?)"	"p.(Arg150Leu)"	"4"
"0000794288"	"00003366"	"90"	"830"	"0"	"830"	"0"	"c.830C>T"	"r.(?)"	"p.(Thr277Met)"	"7"
"0000794696"	"00003366"	"70"	"1193"	"0"	"1193"	"0"	"c.1193C>T"	"r.(?)"	"p.(Ser398Phe)"	""
"0000794759"	"00003366"	"70"	"113"	"0"	"113"	"0"	"c.113T>G"	"r.(?)"	"p.(Ile38Ser)"	""
"0000794760"	"00003366"	"70"	"140"	"0"	"140"	"0"	"c.140G>A"	"r.(?)"	"p.(Arg47His)"	""
"0000797527"	"00003366"	"90"	"682"	"0"	"682"	"0"	"c.682G>A"	"r.(?)"	"p.(Asp228Asn)"	""
"0000797528"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	""
"0000797529"	"00003366"	"70"	"287"	"0"	"287"	"0"	"c.287A>G"	"r.(?)"	"p.(Gln96Arg)"	""
"0000797530"	"00003366"	"70"	"1030"	"0"	"1030"	"0"	"c.1030C>T"	"r.(?)"	"p.(Gln344*)"	""
"0000797531"	"00003366"	"90"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000797532"	"00003366"	"70"	"253"	"0"	"253"	"0"	"c.253T>C"	"r.(?)"	"p.(Tyr85His)"	""
"0000797533"	"00003366"	"90"	"904"	"0"	"904"	"0"	"c.904G>A"	"r.(?)"	"p.(Asp302Asn)"	""
"0000797535"	"00003366"	"90"	"904"	"0"	"904"	"0"	"c.904G>A"	"r.(?)"	"p.(Asp302Asn)"	""
"0000797536"	"00003366"	"90"	"905"	"0"	"905"	"0"	"c.905A>C"	"r.(?)"	"p.(Asp302Ala)"	""
"0000797537"	"00003366"	"90"	"58"	"0"	"58"	"0"	"c.58C>G"	"r.(?)"	"p.(Leu20Val)"	""
"0000797538"	"00003366"	"70"	"887"	"0"	"887"	"0"	"c.887A>G"	"r.(?)"	"p.(Asn296Ser)"	""
"0000797539"	"00003366"	"90"	"904"	"0"	"904"	"0"	"c.904G>A"	"r.(?)"	"p.(Asp302Asn)"	""
"0000797540"	"00003366"	"70"	"295"	"0"	"295"	"0"	"c.295A>C"	"r.(?)"	"p.(Asn99His)"	""
"0000797541"	"00003366"	"70"	"936"	"0"	"936"	"0"	"c.936C>A"	"r.(?)"	"p.(Asp312Glu)"	""
"0000797542"	"00003366"	"70"	"287"	"0"	"287"	"0"	"c.287A>G"	"r.(?)"	"p.(Gln96Arg)"	""
"0000797543"	"00003366"	"90"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	""
"0000797544"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	""
"0000797545"	"00003366"	"90"	"418"	"0"	"418"	"0"	"c.418C>G"	"r.(?)"	"p.(Leu140Val)"	""
"0000797546"	"00003366"	"70"	"140"	"0"	"140"	"0"	"c.140G>A"	"r.(?)"	"p.(Arg47His)"	""
"0000797920"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000797948"	"00003366"	"50"	"1063"	"0"	"1063"	"0"	"c.1063C>T"	"r.(?)"	"p.(Arg355Cys)"	""
"0000797949"	"00003366"	"50"	"95"	"0"	"95"	"0"	"c.95T>C"	"r.(?)"	"p.(Leu32Pro)"	""
"0000798435"	"00003366"	"70"	"727"	"0"	"727"	"0"	"c.727G>A"	"r.(?)"	"p.(Ala243Thr)"	"7"
"0000805221"	"00003366"	"30"	"152"	"6"	"152"	"6"	"c.152+6G>T"	"r.(=)"	"p.(=)"	""
"0000805222"	"00003366"	"50"	"641"	"0"	"641"	"0"	"c.641T>C"	"r.(?)"	"p.(Met214Thr)"	""
"0000805223"	"00003366"	"70"	"664"	"0"	"664"	"0"	"c.664G>A"	"r.(?)"	"p.(Gly222Arg)"	""
"0000805224"	"00003366"	"90"	"679"	"0"	"679"	"0"	"c.679T>A"	"r.(?)"	"p.(Tyr227Asn)"	""
"0000805225"	"00003366"	"50"	"1054"	"0"	"1054"	"0"	"c.1054G>A"	"r.(?)"	"p.(Ala352Thr)"	""
"0000811393"	"00003366"	"70"	"37"	"0"	"37"	"0"	"c.37C>T"	"r.(?)"	"p.(Arg13Cys)"	""
"0000811394"	"00003366"	"70"	"11"	"0"	"11"	"0"	"c.11C>T"	"r.(?)"	"p.(Thr4Ile)"	""
"0000811513"	"00003366"	"70"	"888"	"0"	"888"	"0"	"c.888C>A"	"r.(?)"	"p.(Asn296Lys)"	""
"0000812192"	"00003366"	"70"	"400"	"0"	"400"	"0"	"c.400C>G"	"r.(?)"	"p.(Leu134Val)"	"4"
"0000812193"	"00003366"	"70"	"934"	"0"	"934"	"0"	"c.934G>A"	"r.(?)"	"p.(Asp312Asn)"	"8"
"0000812565"	"00003366"	"70"	"903"	"0"	"903"	"0"	"c.903T>G"	"r.(?)"	"p.(Asp301Glu)"	""
"0000812578"	"00003366"	"50"	"898"	"0"	"898"	"0"	"c.898G>A"	"r.(?)"	"p.(Glu300Lys)"	""
"0000812671"	"00003366"	"70"	"310"	"0"	"310"	"0"	"c.310G>C"	"r.(?)"	"p.(Asp104His)"	""
"0000812760"	"00003366"	"70"	"1474"	"0"	"1474"	"0"	"c.1474G>A"	"r.(?)"	"p.(Val492Ile)"	""
"0000812764"	"00003366"	"70"	"140"	"0"	"140"	"0"	"c.140G>A"	"r.(?)"	"p.(Arg47His)"	""
"0000812789"	"00003366"	"70"	"1037"	"0"	"1037"	"0"	"c.1037C>A"	"r.(?)"	"p.(Pro346His)"	""
"0000812815"	"00003366"	"70"	"277"	"0"	"277"	"0"	"c.277T>C"	"r.(?)"	"p.(Trp93Arg)"	""
"0000812921"	"00003366"	"30"	"1067"	"0"	"1067"	"0"	"c.1067G>A"	"r.(?)"	"p.(Arg356Gln)"	""
"0000812923"	"00003366"	"30"	"1067"	"0"	"1067"	"0"	"c.1067G>A"	"r.(?)"	"p.(Arg356Gln)"	""
"0000812925"	"00003366"	"30"	"1067"	"0"	"1067"	"0"	"c.1067G>A"	"r.(?)"	"p.(Arg356Gln)"	""
"0000812927"	"00003366"	"30"	"1067"	"0"	"1067"	"0"	"c.1067G>A"	"r.(?)"	"p.(Arg356Gln)"	""
"0000812929"	"00003366"	"30"	"1067"	"0"	"1067"	"0"	"c.1067G>A"	"r.(?)"	"p.(Arg356Gln)"	""
"0000812931"	"00003366"	"30"	"1067"	"0"	"1067"	"0"	"c.1067G>A"	"r.(?)"	"p.(Arg356Gln)"	""
"0000812933"	"00003366"	"30"	"1067"	"0"	"1067"	"0"	"c.1067G>A"	"r.(?)"	"p.(Arg356Gln)"	""
"0000812935"	"00003366"	"30"	"1067"	"0"	"1067"	"0"	"c.1067G>A"	"r.(?)"	"p.(Arg356Gln)"	""
"0000813014"	"00003366"	"70"	"74"	"0"	"74"	"0"	"c.74G>A"	"r.(?)"	"p.(Arg25Gln)"	""
"0000813015"	"00003366"	"70"	"74"	"0"	"74"	"0"	"c.74G>A"	"r.(?)"	"p.(Arg25Gln)"	""
"0000815315"	"00003366"	"90"	"393"	"0"	"393"	"0"	"c.393C>A"	"r.(?)"	"p.(Tyr131Ter)"	""
"0000815335"	"00003366"	"70"	"602"	"0"	"602"	"0"	"c.602T>C"	"r.(?)"	"p.(Ile201Thr)"	""
"0000815356"	"00003366"	"70"	"11"	"0"	"11"	"0"	"c.11C>T"	"r.(?)"	"p.(Thr4Ile)"	""
"0000815377"	"00003366"	"70"	"637"	"0"	"639"	"0"	"c.637_639del"	"r.(?)"	"p.(Glu213del)"	""
"0000815480"	"00003366"	"90"	"388"	"0"	"388"	"0"	"c.388C>A"	"r.(?)"	"p.(Arg130Ser)"	""
"0000815525"	"00003366"	"70"	"602"	"0"	"602"	"0"	"c.602T>C"	"r.(?)"	"p.(Ile201Thr)"	""
"0000815603"	"00003366"	"70"	"698"	"0"	"698"	"0"	"c.698C>A"	"r.(?)"	"p.(Pro233Gln)"	""
"0000816074"	"00003366"	"70"	"240"	"0"	"240"	"0"	"c.240C>G"	"r.(?)"	"p.(Phe80Leu)"	""
"0000816579"	"00003366"	"70"	"1183"	"0"	"1183"	"0"	"c.1183G>C"	"r.(?)"	"p.(Gly395Arg)"	""
"0000817312"	"00003366"	"90"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	"4"
"0000817630"	"00003366"	"70"	"388"	"0"	"388"	"0"	"c.388C>A"	"r.(?)"	"p.(Arg130Ser)"	""
"0000817631"	"00003366"	"70"	"-37"	"5"	"-37"	"5"	"c.-37+5G>A"	"r.spl?"	"p.(?)"	""
"0000817651"	"00003366"	"70"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255Trp)"	""
"0000817686"	"00003366"	"70"	"352"	"0"	"352"	"0"	"c.352G>C"	"r.(?)"	"p.(Asp118His)"	""
"0000817687"	"00003366"	"70"	"779"	"0"	"779"	"0"	"c.779del"	"r.(?)"	"p.(Pro260GlnfsTer29)"	""
"0000817688"	"00003366"	"70"	"888"	"0"	"888"	"0"	"c.888C>A"	"r.(?)"	"p.(Asn296Lys)"	""
"0000817689"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000817690"	"00003366"	"70"	"1100"	"1"	"1100"	"1"	"c.1100+1G>A"	"r.spl"	"p.(?)"	""
"0000819387"	"00003366"	"70"	"851"	"0"	"851"	"0"	"c.851A>T"	"r.(?)"	"p.(Tyr284Phe)"	""
"0000819388"	"00003366"	"70"	"851"	"0"	"851"	"0"	"c.851A>T"	"r.(?)"	"p.(Tyr284Phe)"	""
"0000819397"	"00003366"	"70"	"884"	"0"	"886"	"0"	"c.884_886del"	"r.(?)"	"p.(Ile295del)"	""
"0000819400"	"00003366"	"70"	"72"	"0"	"72"	"0"	"c.72G>T"	"r.(?)"	"p.(Trp24Cys)"	""
"0000819401"	"00003366"	"70"	"72"	"0"	"72"	"0"	"c.72G>T"	"r.(?)"	"p.(Trp24Cys)"	""
"0000819402"	"00003366"	"70"	"72"	"0"	"72"	"0"	"c.72G>T"	"r.(?)"	"p.(Trp24Cys)"	""
"0000819413"	"00003366"	"70"	"295"	"0"	"295"	"0"	"c.295A>G"	"r.(?)"	"p.(Asn99Asp)"	""
"0000819445"	"00003366"	"70"	"875"	"0"	"875"	"0"	"c.875A>T"	"r.(?)"	"p.(Glu292Val)"	""
"0000819468"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	""
"0000819488"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000819494"	"00003366"	"70"	"44"	"0"	"44"	"0"	"c.44G>A"	"r.(?)"	"p.(Gly15Asp)"	""
"0000819495"	"00003366"	"70"	"44"	"0"	"44"	"0"	"c.44G>A"	"r.(?)"	"p.(Gly15Asp)"	""
"0000819508"	"00003366"	"70"	"932"	"0"	"932"	"0"	"c.932T>G"	"r.(?)"	"p.(Val311Gly)"	""
"0000819533"	"00003366"	"70"	"400"	"0"	"400"	"0"	"c.400C>G"	"r.(?)"	"p.(Leu134Val)"	""
"0000819553"	"00003366"	"70"	"703"	"0"	"703"	"0"	"c.703G>T"	"r.(?)"	"p.(Val235Leu)"	""
"0000819557"	"00003366"	"70"	"884"	"0"	"886"	"0"	"c.884_886del"	"r.(?)"	"p.(Ile295del)"	""
"0000819564"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	""
"0000819573"	"00003366"	"70"	"884"	"0"	"886"	"0"	"c.884_886del"	"r.(?)"	"p.(Ile295del)"	""
"0000819576"	"00003366"	"70"	"397"	"0"	"397"	"0"	"c.397A>C"	"r.(?)"	"p.(Asn133His)"	""
"0000819586"	"00003366"	"70"	"889"	"0"	"889"	"0"	"c.889C>T"	"r.(?)"	"p.(Pro297Ser)"	""
"0000819592"	"00003366"	"70"	"11"	"0"	"11"	"0"	"c.11C>T"	"r.(?)"	"p.(Thr4Ile)"	""
"0000819608"	"00003366"	"70"	"670"	"0"	"670"	"0"	"c.670C>A"	"r.(?)"	"p.(Leu224Met)"	""
"0000819609"	"00003366"	"70"	"670"	"0"	"670"	"0"	"c.670C>A"	"r.(?)"	"p.(Leu224Met)"	""
"0000819851"	"00003366"	"70"	"17"	"0"	"17"	"0"	"c.17C>T"	"r.(?)"	"p.(Thr6Ile)"	""
"0000820056"	"00003366"	"70"	"779"	"0"	"779"	"0"	"c.779del"	"r.(?)"	"p.(Pro260Glnfs*29)"	""
"0000820095"	"00003366"	"70"	"37"	"0"	"37"	"0"	"c.37C>G"	"r.(?)"	"p.(Arg13Gly)"	""
"0000820191"	"00003366"	"70"	"247"	"2"	"247"	"2"	"c.247+2del"	"r.spl"	"p.(?)"	""
"0000820673"	"00003366"	"70"	"712"	"0"	"712"	"0"	"c.712del"	"r.(?)"	"p.(Gln238Argfs*3)"	""
"0000820677"	"00003366"	"70"	"1315"	"0"	"1315"	"0"	"c.1315C>T"	"r.(?)"	"p.(Gln439*)"	""
"0000821165"	"00003366"	"90"	"-37"	"1"	"-37"	"1"	"c.-37+1G>T"	"r.spl"	"p.(?)"	""
"0000821166"	"00003366"	"70"	"287"	"0"	"298"	"0"	"c.287_298del"	"r.(?)"	"p.(Gln96_Asn99del)"	""
"0000822093"	"00003366"	"70"	"16"	"0"	"16"	"0"	"c.16A>C"	"r.(?)"	"p.(Thr6Pro)"	"2"
"0000822094"	"00003366"	"70"	"1608"	"0"	"1608"	"0"	"c.1608T>C"	"r.(=)"	"p.(=)"	"10"
"0000822095"	"00003366"	"70"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	"6"
"0000822211"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	"4"
"0000822212"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	"4"
"0000822219"	"00003366"	"70"	"658"	"0"	"658"	"0"	"c.658C>T"	"r.(?)"	"p.(Gln220*)"	"6"
"0000822220"	"00003366"	"70"	"658"	"0"	"658"	"0"	"c.658C>T"	"r.(?)"	"p.(Gln220*)"	"6"
"0000822247"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	"7"
"0000822251"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	"5"
"0000822252"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	"5"
"0000822255"	"00003366"	"70"	"-37"	"1"	"-37"	"1"	"c.-37+1G>T"	"r.spl?"	"p.?"	"1i"
"0000822256"	"00003366"	"70"	"-37"	"1"	"-37"	"1"	"c.-37+1G>T"	"r.spl?"	"p.?"	"1i"
"0000822314"	"00003366"	"70"	"388"	"0"	"388"	"0"	"c.388C>A"	"r.(?)"	"p.(Arg130Ser)"	"4"
"0000822315"	"00003366"	"70"	"638"	"0"	"638"	"0"	"c.638A>G"	"r.(?)"	"p.(Glu213Gly)"	"6"
"0000822320"	"00003366"	"70"	"907"	"0"	"907"	"0"	"c.907G>T"	"r.(?)"	"p.(Asp303Tyr)"	"8"
"0000822359"	"00003366"	"70"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	"2"
"0000822362"	"00003366"	"70"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	"6"
"0000822412"	"00003366"	"70"	"884"	"0"	"886"	"0"	"c.884_886del"	"r.(?)"	"p.(Ile295del)"	"8"
"0000822461"	"00003366"	"70"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	"6"
"0000822670"	"00003366"	"70"	"709"	"0"	"709"	"0"	"c.709A>T"	"r.(?)"	"p.(Thr237Ser)"	"6"
"0000822671"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"2"
"0000822672"	"00003366"	"70"	"428"	"0"	"428"	"0"	"c.428T>C"	"r.(?)"	"p.(Val143Ala)"	"4"
"0000822673"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	"7"
"0000822674"	"00003366"	"70"	"17"	"0"	"17"	"0"	"c.17C>T"	"r.(?)"	"p.(Thr6Ile)"	"2"
"0000822675"	"00003366"	"70"	"956"	"0"	"956"	"0"	"c.956T>C"	"r.(?)"	"p.(Leu319Pro)"	"9"
"0000822676"	"00003366"	"70"	"934"	"0"	"934"	"0"	"c.934G>A"	"r.(?)"	"p.(Asp312Asn)"	"8"
"0000823202"	"00003366"	"50"	"28"	"0"	"28"	"0"	"c.28G>A"	"r.(?)"	"p.(Ala10Thr)"	""
"0000823203"	"00003366"	"50"	"28"	"0"	"28"	"0"	"c.28G>A"	"r.(?)"	"p.(Ala10Thr)"	""
"0000823204"	"00003366"	"50"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	""
"0000823205"	"00003366"	"50"	"94"	"0"	"94"	"0"	"c.94C>G"	"r.(?)"	"p.(Leu32Val)"	""
"0000823206"	"00003366"	"50"	"602"	"0"	"602"	"0"	"c.602T>C"	"r.(?)"	"p.(Ile201Thr)"	""
"0000823207"	"00003366"	"70"	"892"	"0"	"892"	"0"	"c.892T>G"	"r.(?)"	"p.(Phe298Val)"	""
"0000824120"	"00003366"	"70"	"979"	"0"	"979"	"0"	"c.979del"	"r.(?)"	"p.(Gln327Argfs*42)"	""
"0000824158"	"00003366"	"70"	"979"	"0"	"979"	"0"	"c.979del"	"r.(?)"	"p.(Gln327Argfs*42)"	""
"0000824320"	"00003366"	"70"	"37"	"0"	"37"	"0"	"c.37C>T"	"r.(?)"	"p.(Arg13Cys)"	""
"0000824321"	"00003366"	"70"	"37"	"0"	"37"	"0"	"c.37C>T"	"r.(?)"	"p.(Arg13Cys)"	""
"0000824322"	"00003366"	"70"	"37"	"0"	"37"	"0"	"c.37C>T"	"r.(?)"	"p.(Arg13Cys)"	""
"0000824645"	"00003366"	"50"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000824754"	"00003366"	"50"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255Trp)"	""
"0000825508"	"00003366"	"50"	"362"	"0"	"362"	"0"	"c.362G>C"	"r.(?)"	"p.(Gly121Ala)"	""
"0000825509"	"00003366"	"50"	"1037"	"0"	"1037"	"0"	"c.1037C>A"	"r.(?)"	"p.(Pro346His)"	""
"0000825721"	"00003366"	"70"	"1037"	"0"	"1037"	"0"	"c.1037C>A"	"r.(?)"	"p.(Pro346His)"	"9"
"0000825862"	"00003366"	"70"	"449"	"0"	"449"	"0"	"c.449G>T"	"r.(?)"	"p.(Arg150Leu)"	"4"
"0000825863"	"00003366"	"70"	"830"	"0"	"830"	"0"	"c.830C>T"	"r.(?)"	"p.(Thr277Met)"	"7"
"0000825948"	"00003366"	"70"	"1037"	"0"	"1037"	"0"	"c.1037C>A"	"r.(?)"	"p.(Pro346His)"	"9"
"0000825985"	"00003366"	"70"	"287"	"0"	"287"	"0"	"c.287A>T"	"r.(?)"	"p.(Gln96Leu)"	"4"
"0000826240"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	"5"
"0000826262"	"00003366"	"70"	"1037"	"0"	"1037"	"0"	"c.1037C>A"	"r.(?)"	"p.(Pro346His)"	"9"
"0000826326"	"00003366"	"70"	"851"	"0"	"851"	"0"	"c.851A>G"	"r.(?)"	"p.(Tyr284Cys)"	"7"
"0000826372"	"00003366"	"70"	"1070"	"0"	"1070"	"0"	"c.1070C>T"	"r.(?)"	"p.(Ala357Val)"	"9"
"0000828323"	"00003366"	"90"	"727"	"0"	"727"	"0"	"c.727G>A"	"r.(?)"	"p.(Ala243Thr)"	""
"0000828324"	"00003366"	"90"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	""
"0000828325"	"00003366"	"90"	"727"	"0"	"727"	"0"	"c.727G>A"	"r.(?)"	"p.(Ala243Thr)"	""
"0000828326"	"00003366"	"90"	"727"	"0"	"727"	"0"	"c.727G>A"	"r.(?)"	"p.(Ala243Thr)"	""
"0000828327"	"00003366"	"90"	"727"	"0"	"727"	"0"	"c.727G>A"	"r.(?)"	"p.(Ala243Thr)"	""
"0000828328"	"00003366"	"50"	"1198"	"0"	"1198"	"0"	"c.1198G>C"	"r.(?)"	"p.(Asp400His)"	""
"0000828844"	"00003366"	"70"	"25"	"0"	"25"	"0"	"c.25G>A"	"r.(?)"	"p.(Val9Met)"	""
"0000828888"	"00003366"	"70"	"214"	"0"	"214"	"0"	"c.214T>C"	"r.(?)"	"p.(Tyr72His)"	""
"0000828921"	"00003366"	"70"	"35"	"0"	"35"	"0"	"c.35C>A"	"r.(?)"	"p.(Ala12Asp)"	""
"0000828931"	"00003366"	"70"	"478"	"0"	"478"	"0"	"c.478G>C"	"r.(?)"	"p.(Ala160Pro)"	""
"0000829768"	"00003366"	"70"	"-36"	"-15"	"152"	"1"	"c.(?_-36-15)_(152+1_153-1)del"	"r.0?"	"p.0?"	"_1i_2i"
"0000839295"	"00003366"	"70"	"279"	"0"	"279"	"0"	"c.279G>C"	"r.(?)"	"p.(Trp93Cys)"	"4"
"0000839296"	"00003366"	"70"	"279"	"0"	"279"	"0"	"c.279G>C"	"r.(?)"	"p.(Trp93Cys)"	"4"
"0000839297"	"00003366"	"70"	"279"	"0"	"279"	"0"	"c.279G>C"	"r.(?)"	"p.(Trp93Cys)"	"4"
"0000839298"	"00003366"	"70"	"279"	"0"	"279"	"0"	"c.279G>C"	"r.(?)"	"p.(Trp93Cys)"	"4"
"0000839299"	"00003366"	"70"	"279"	"0"	"279"	"0"	"c.279G>C"	"r.(?)"	"p.(Trp93Cys)"	"4"
"0000839300"	"00003366"	"70"	"279"	"0"	"279"	"0"	"c.279G>C"	"r.(?)"	"p.(Trp93Cys)"	"4"
"0000839301"	"00003366"	"70"	"279"	"0"	"279"	"0"	"c.279G>C"	"r.(?)"	"p.(Trp93Cys)"	"4"
"0000839302"	"00003366"	"70"	"279"	"0"	"279"	"0"	"c.279G>C"	"r.(?)"	"p.(Trp93Cys)"	"4"
"0000839303"	"00003366"	"70"	"279"	"0"	"279"	"0"	"c.279G>C"	"r.(?)"	"p.(Trp93Cys)"	"4"
"0000839304"	"00003366"	"70"	"279"	"0"	"279"	"0"	"c.279G>C"	"r.(?)"	"p.(Trp93Cys)"	"4"
"0000839305"	"00003366"	"70"	"279"	"0"	"279"	"0"	"c.279G>C"	"r.(?)"	"p.(Trp93Cys)"	"4"
"0000839306"	"00003366"	"70"	"279"	"0"	"279"	"0"	"c.279G>C"	"r.(?)"	"p.(Trp93Cys)"	"4"
"0000839307"	"00003366"	"70"	"279"	"0"	"279"	"0"	"c.279G>C"	"r.(?)"	"p.(Trp93Cys)"	"4"
"0000839308"	"00003366"	"70"	"253"	"0"	"253"	"0"	"c.253T>C"	"r.(?)"	"p.(Tyr85His)"	"4"
"0000839309"	"00003366"	"70"	"253"	"0"	"253"	"0"	"c.253T>C"	"r.(?)"	"p.(Tyr85His)"	"4"
"0000839310"	"00003366"	"70"	"253"	"0"	"253"	"0"	"c.253T>C"	"r.(?)"	"p.(Tyr85His)"	"4"
"0000839311"	"00003366"	"70"	"253"	"0"	"253"	"0"	"c.253T>C"	"r.(?)"	"p.(Tyr85His)"	"4"
"0000839312"	"00003366"	"70"	"253"	"0"	"253"	"0"	"c.253T>C"	"r.(?)"	"p.(Tyr85His)"	"4"
"0000839313"	"00003366"	"70"	"253"	"0"	"253"	"0"	"c.253T>C"	"r.(?)"	"p.(Tyr85His)"	"4"
"0000839314"	"00003366"	"70"	"253"	"0"	"253"	"0"	"c.253T>C"	"r.(?)"	"p.(Tyr85His)"	"4"
"0000839315"	"00003366"	"70"	"896"	"0"	"896"	"0"	"c.896G>A"	"r.(?)"	"p.(Gly299Glu)"	"8"
"0000839316"	"00003366"	"70"	"896"	"0"	"896"	"0"	"c.896G>A"	"r.(?)"	"p.(Gly299Glu)"	"8"
"0000839317"	"00003366"	"70"	"896"	"0"	"896"	"0"	"c.896G>A"	"r.(?)"	"p.(Gly299Glu)"	"8"
"0000839318"	"00003366"	"70"	"896"	"0"	"896"	"0"	"c.896G>A"	"r.(?)"	"p.(Gly299Glu)"	"8"
"0000839319"	"00003366"	"50"	"312"	"0"	"312"	"0"	"c.312C>A"	"r.(?)"	"p.(Asp104Glu)"	"4"
"0000839320"	"00003366"	"50"	"26"	"0"	"26"	"0"	"c.26T>C"	"r.(?)"	"p.(Val9Ala)"	"2"
"0000839321"	"00003366"	"50"	"26"	"0"	"26"	"0"	"c.26T>C"	"r.(?)"	"p.(Val9Ala)"	"2"
"0000839322"	"00003366"	"50"	"219"	"0"	"219"	"0"	"c.219C>A"	"r.(?)"	"p.(Ile73=)"	"3"
"0000839323"	"00003366"	"70"	"679"	"0"	"679"	"0"	"c.679T>A"	"r.(?)"	"p.(Tyr227Asn)"	"6"
"0000839324"	"00003366"	"70"	"679"	"0"	"679"	"0"	"c.679T>A"	"r.(?)"	"p.(Tyr227Asn)"	"6"
"0000839325"	"00003366"	"70"	"679"	"0"	"679"	"0"	"c.679T>A"	"r.(?)"	"p.(Tyr227Asn)"	"6"
"0000839326"	"00003366"	"70"	"16"	"0"	"16"	"0"	"c.16A>C"	"r.(?)"	"p.(Thr6Pro)"	"2"
"0000839327"	"00003366"	"70"	"16"	"0"	"16"	"0"	"c.16A>C"	"r.(?)"	"p.(Thr6Pro)"	"2"
"0000839328"	"00003366"	"70"	"16"	"0"	"16"	"0"	"c.16A>C"	"r.(?)"	"p.(Thr6Pro)"	"2"
"0000839329"	"00003366"	"70"	"16"	"0"	"16"	"0"	"c.16A>C"	"r.(?)"	"p.(Thr6Pro)"	"2"
"0000839330"	"00003366"	"70"	"16"	"0"	"16"	"0"	"c.16A>C"	"r.(?)"	"p.(Thr6Pro)"	"2"
"0000839331"	"00003366"	"70"	"16"	"0"	"16"	"0"	"c.16A>C"	"r.(?)"	"p.(Thr6Pro)"	"2"
"0000839332"	"00003366"	"70"	"16"	"0"	"16"	"0"	"c.16A>C"	"r.(?)"	"p.(Thr6Pro)"	"2"
"0000839333"	"00003366"	"70"	"16"	"0"	"16"	"0"	"c.16A>C"	"r.(?)"	"p.(Thr6Pro)"	"2"
"0000839334"	"00003366"	"70"	"16"	"0"	"16"	"0"	"c.16A>C"	"r.(?)"	"p.(Thr6Pro)"	"2"
"0000839335"	"00003366"	"70"	"16"	"0"	"16"	"0"	"c.16A>C"	"r.(?)"	"p.(Thr6Pro)"	"2"
"0000839336"	"00003366"	"70"	"16"	"0"	"16"	"0"	"c.16A>C"	"r.(?)"	"p.(Thr6Pro)"	"2"
"0000839338"	"00003366"	"70"	"25"	"0"	"25"	"0"	"c.25G>A"	"r.(?)"	"p.(Val9Met)"	"2"
"0000839339"	"00003366"	"70"	"28"	"0"	"28"	"0"	"c.28G>A"	"r.(?)"	"p.(Ala10Thr)"	"2"
"0000839340"	"00003366"	"70"	"72"	"0"	"72"	"0"	"c.72G>T"	"r.(?)"	"p.(Trp24Cys)"	"2"
"0000839341"	"00003366"	"70"	"74"	"0"	"74"	"0"	"c.74G>A"	"r.(?)"	"p.(Arg25Gln)"	"2"
"0000839342"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"6"
"0000839343"	"00003366"	"70"	"679"	"0"	"679"	"0"	"c.679T>A"	"r.(?)"	"p.(Tyr227Asn)"	"6"
"0000839344"	"00003366"	"70"	"680"	"0"	"680"	"0"	"c.680A>G"	"r.(?)"	"p.(Tyr227Cys)"	"6"
"0000839345"	"00003366"	"70"	"703"	"0"	"703"	"0"	"c.703G>A"	"r.(?)"	"p.(Val235Met)"	"6"
"0000839346"	"00003366"	"70"	"884"	"0"	"886"	"0"	"c.884_886del"	"r.(?)"	"p.(Ile295del)"	"8"
"0000839347"	"00003366"	"70"	"889"	"0"	"889"	"0"	"c.889C>G"	"r.(?)"	"p.(Pro297Ala)"	"8"
"0000839348"	"00003366"	"70"	"914"	"0"	"914"	"0"	"c.914T>C"	"r.(?)"	"p.(Phe305Ser)"	"8"
"0000839349"	"00003366"	"70"	"884"	"0"	"886"	"0"	"c.884_886del"	"r.(?)"	"p.(Ile295del)"	"8"
"0000839350"	"00003366"	"70"	"884"	"0"	"886"	"0"	"c.884_886del"	"r.(?)"	"p.(Ile295del)"	"8"
"0000839351"	"00003366"	"70"	"884"	"0"	"886"	"0"	"c.884_886del"	"r.(?)"	"p.(Ile295del)"	"8"
"0000839352"	"00003366"	"70"	"884"	"0"	"886"	"0"	"c.884_886del"	"r.(?)"	"p.(Ile295del)"	"8"
"0000839353"	"00003366"	"70"	"884"	"0"	"886"	"0"	"c.884_886del"	"r.(?)"	"p.(Ile295del)"	"8"
"0000839354"	"00003366"	"70"	"884"	"0"	"886"	"0"	"c.884_886del"	"r.(?)"	"p.(Ile295del)"	"8"
"0000839355"	"00003366"	"70"	"884"	"0"	"886"	"0"	"c.884_886del"	"r.(?)"	"p.(Ile295del)"	"8"
"0000839356"	"00003366"	"70"	"884"	"0"	"886"	"0"	"c.884_886del"	"r.(?)"	"p.(Ile295del)"	"8"
"0000839357"	"00003366"	"70"	"884"	"0"	"886"	"0"	"c.884_886del"	"r.(?)"	"p.(Ile295del)"	"8"
"0000839358"	"00003366"	"70"	"884"	"0"	"886"	"0"	"c.884_886del"	"r.(?)"	"p.(Ile295del)"	"8"
"0000839367"	"00003366"	"70"	"38"	"0"	"38"	"0"	"c.38G>A"	"r.(?)"	"p.(Arg13His)"	"2"
"0000839368"	"00003366"	"70"	"279"	"0"	"279"	"0"	"c.279G>C"	"r.(?)"	"p.(Trp93Cys)"	"4"
"0000839369"	"00003366"	"70"	"279"	"0"	"279"	"0"	"c.279G>C"	"r.(?)"	"p.(Trp93Cys)"	"4"
"0000839370"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"6"
"0000839371"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"6"
"0000839372"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"6"
"0000839373"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"6"
"0000839374"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"6"
"0000839375"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"6"
"0000839376"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"6"
"0000839377"	"00003366"	"70"	"900"	"0"	"900"	"0"	"c.900G>C"	"r.(?)"	"p.(Glu300Asp)"	"8"
"0000839378"	"00003366"	"70"	"900"	"0"	"900"	"0"	"c.900G>C"	"r.(?)"	"p.(Glu300Asp)"	"8"
"0000839379"	"00003366"	"70"	"900"	"0"	"900"	"0"	"c.900G>C"	"r.(?)"	"p.(Glu300Asp)"	"8"
"0000839380"	"00003366"	"70"	"900"	"0"	"900"	"0"	"c.900G>C"	"r.(?)"	"p.(Glu300Asp)"	"8"
"0000839381"	"00003366"	"70"	"903"	"0"	"903"	"0"	"c.903T>G"	"r.(?)"	"p.(Asp301Glu)"	"8"
"0000839382"	"00003366"	"70"	"920"	"0"	"920"	"0"	"c.920C>T"	"r.(?)"	"p.(Thr307Ile)"	"8"
"0000839383"	"00003366"	"70"	"920"	"0"	"920"	"0"	"c.920C>T"	"r.(?)"	"p.(Thr307Ile)"	"8"
"0000839384"	"00003366"	"70"	"1470"	"0"	"1471"	"0"	"c.1470_1471del"	"r.(?)"	"p.(His490Glnfs*24)"	"10"
"0000839386"	"00003366"	"70"	"29"	"0"	"29"	"0"	"c.29C>T"	"r.(?)"	"p.(Ala10Val)"	"2"
"0000839387"	"00003366"	"70"	"244"	"0"	"244"	"0"	"c.244C>G"	"r.(?)"	"p.(Leu82Val)"	"3"
"0000839388"	"00003366"	"70"	"274"	"0"	"274"	"0"	"c.274C>T"	"r.(?)"	"p.(Arg92Cys)"	"4"
"0000839389"	"00003366"	"70"	"288"	"0"	"288"	"0"	"c.288G>C"	"r.(?)"	"p.(Gln96His)"	"4"
"0000839390"	"00003366"	"70"	"403"	"0"	"403"	"0"	"c.403G>A"	"r.(?)"	"p.(Gly135Ser)"	"4"
"0000839391"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"6"
"0000839392"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>A"	"r.(?)"	"p.(Arg218Ser)"	"6"
"0000839393"	"00003366"	"70"	"877"	"0"	"877"	"0"	"c.877C>A"	"r.(?)"	"p.(Gln293Lys)"	"8"
"0000839404"	"00003366"	"70"	"889"	"0"	"889"	"0"	"c.889C>T"	"r.(?)"	"p.(Pro297Ser)"	"8"
"0000839405"	"00003366"	"70"	"900"	"0"	"900"	"0"	"c.900G>C"	"r.(?)"	"p.(Glu300Asp)"	"8"
"0000839406"	"00003366"	"70"	"355"	"0"	"355"	"0"	"c.355G>C"	"r.(?)"	"p.(Glu119Gln)"	"4"
"0000839407"	"00003366"	"70"	"436"	"0"	"437"	"0"	"c.436_437delinsAA"	"r.(?)"	"p.(Ala146Lys)"	"4"
"0000839408"	"00003366"	"70"	"647"	"0"	"647"	"0"	"c.647C>T"	"r.(?)"	"p.(Thr216Ile)"	"6"
"0000839409"	"00003366"	"50"	"1699"	"0"	"1699"	"0"	"c.1699C>T"	"r.(?)"	"p.(Leu567Phe)"	"10"
"0000839410"	"00003366"	"50"	"1699"	"0"	"1699"	"0"	"c.1699C>T"	"r.(?)"	"p.(Leu567Phe)"	"10"
"0000839411"	"00003366"	"70"	"663"	"0"	"663"	"0"	"c.663T>G"	"r.(?)"	"p.(Cys221Trp)"	"6"
"0000839414"	"00003366"	"70"	"17"	"0"	"17"	"0"	"c.17C>G"	"r.(?)"	"p.(Thr6Arg)"	"2"
"0000839415"	"00003366"	"70"	"72"	"0"	"72"	"0"	"c.72G>T"	"r.(?)"	"p.(Trp24Cys)"	"2"
"0000839416"	"00003366"	"70"	"272"	"0"	"272"	"0"	"c.272C>T"	"r.(?)"	"p.(Thr91Ile)"	"4"
"0000839417"	"00003366"	"70"	"301"	"0"	"301"	"0"	"c.301C>A"	"r.(?)"	"p.(Pro101Thr)"	"4"
"0000839418"	"00003366"	"70"	"602"	"0"	"602"	"0"	"c.602T>C"	"r.(?)"	"p.(Ile201Thr)"	"5"
"0000839419"	"00003366"	"70"	"665"	"0"	"665"	"0"	"c.665G>T"	"r.(?)"	"p.(Gly222Val)"	"6"
"0000839420"	"00003366"	"70"	"671"	"0"	"671"	"0"	"c.671T>C"	"r.(?)"	"p.(Leu224Pro)"	"6"
"0000839421"	"00003366"	"70"	"680"	"0"	"680"	"0"	"c.680A>G"	"r.(?)"	"p.(Tyr227Cys)"	"6"
"0000839422"	"00003366"	"70"	"886"	"0"	"886"	"0"	"c.886A>C"	"r.(?)"	"p.(Asn296His)"	"8"
"0000839423"	"00003366"	"70"	"889"	"0"	"889"	"0"	"c.889C>G"	"r.(?)"	"p.(Pro297Ala)"	"8"
"0000839424"	"00003366"	"70"	"905"	"0"	"905"	"0"	"c.905A>G"	"r.(?)"	"p.(Asp302Gly)"	"8"
"0000839425"	"00003366"	"70"	"905"	"0"	"905"	"0"	"c.905A>T"	"r.(?)"	"p.(Asp302Val)"	"8"
"0000839426"	"00003366"	"70"	"917"	"0"	"917"	"0"	"c.917A>G"	"r.(?)"	"p.(Glu306Gly)"	"8"
"0000839427"	"00003366"	"70"	"918"	"0"	"918"	"0"	"c.918G>C"	"r.(?)"	"p.(Glu306Asp)"	"8"
"0000839428"	"00003366"	"70"	"919"	"0"	"919"	"0"	"c.919A>G"	"r.(?)"	"p.(Thr307Ala)"	"8"
"0000839429"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	"5"
"0000839430"	"00003366"	"70"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	"6"
"0000839431"	"00003366"	"70"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	"6"
"0000839432"	"00003366"	"70"	"619"	"0"	"619"	"0"	"c.619C>A"	"r.(?)"	"p.(Leu207Ile)"	"5"
"0000839433"	"00003366"	"70"	"619"	"0"	"619"	"0"	"c.619C>A"	"r.(?)"	"p.(Leu207Ile)"	"5"
"0000839434"	"00003366"	"70"	"619"	"0"	"619"	"0"	"c.619C>A"	"r.(?)"	"p.(Leu207Ile)"	"5"
"0000839435"	"00003366"	"70"	"619"	"0"	"619"	"0"	"c.619C>A"	"r.(?)"	"p.(Leu207Ile)"	"5"
"0000839436"	"00003366"	"70"	"619"	"0"	"619"	"0"	"c.619C>A"	"r.(?)"	"p.(Leu207Ile)"	"5"
"0000839437"	"00003366"	"70"	"679"	"0"	"679"	"0"	"c.679T>A"	"r.(?)"	"p.(Tyr227Asn)"	"6"
"0000839438"	"00003366"	"70"	"679"	"0"	"679"	"0"	"c.679T>A"	"r.(?)"	"p.(Tyr227Asn)"	"6"
"0000839439"	"00003366"	"70"	"727"	"0"	"727"	"0"	"c.727G>A"	"r.(?)"	"p.(Ala243Thr)"	"7"
"0000839440"	"00003366"	"70"	"727"	"0"	"727"	"0"	"c.727G>A"	"r.(?)"	"p.(Ala243Thr)"	"7"
"0000839441"	"00003366"	"70"	"920"	"0"	"920"	"0"	"c.920C>T"	"r.(?)"	"p.(Thr307Ile)"	"8"
"0000839442"	"00003366"	"70"	"920"	"0"	"920"	"0"	"c.920C>T"	"r.(?)"	"p.(Thr307Ile)"	"8"
"0000839443"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"6"
"0000839444"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"6"
"0000839445"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"6"
"0000839446"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"6"
"0000839447"	"00003366"	"70"	"89"	"0"	"89"	"0"	"c.89A>G"	"r.(?)"	"p.(Lys30Arg)"	"2"
"0000839448"	"00003366"	"70"	"89"	"0"	"89"	"0"	"c.89A>G"	"r.(?)"	"p.(Lys30Arg)"	"2"
"0000839449"	"00003366"	"70"	"89"	"0"	"89"	"0"	"c.89A>G"	"r.(?)"	"p.(Lys30Arg)"	"2"
"0000839450"	"00003366"	"70"	"900"	"0"	"900"	"0"	"c.900G>C"	"r.(?)"	"p.(Glu300Asp)"	"8"
"0000839451"	"00003366"	"70"	"900"	"0"	"900"	"0"	"c.900G>C"	"r.(?)"	"p.(Glu300Asp)"	"8"
"0000839452"	"00003366"	"70"	"900"	"0"	"900"	"0"	"c.900G>C"	"r.(?)"	"p.(Glu300Asp)"	"8"
"0000839453"	"00003366"	"70"	"900"	"0"	"900"	"0"	"c.900G>C"	"r.(?)"	"p.(Glu300Asp)"	"8"
"0000839454"	"00003366"	"70"	"900"	"0"	"900"	"0"	"c.900G>C"	"r.(?)"	"p.(Glu300Asp)"	"8"
"0000839455"	"00003366"	"70"	"900"	"0"	"900"	"0"	"c.900G>C"	"r.(?)"	"p.(Glu300Asp)"	"8"
"0000839456"	"00003366"	"70"	"445"	"0"	"445"	"0"	"c.445A>T"	"r.(?)"	"p.(Lys149Ter)"	"4"
"0000839457"	"00003366"	"70"	"445"	"0"	"445"	"0"	"c.445A>T"	"r.(?)"	"p.(Lys149Ter)"	"4"
"0000839458"	"00003366"	"70"	"313"	"0"	"313"	"0"	"c.313C>T"	"r.(?)"	"p.(Arg105Cys)"	"4"
"0000839459"	"00003366"	"70"	"355"	"0"	"355"	"0"	"c.355G>C"	"r.(?)"	"p.(Glu119Gln)"	"4"
"0000839460"	"00003366"	"70"	"823"	"0"	"823"	"0"	"c.823G>A"	"r.(?)"	"p.(Val275Ile)"	"7"
"0000839461"	"00003366"	"70"	"50"	"0"	"50"	"0"	"c.50T>G"	"r.(?)"	"p.(Phe17Cys)"	"2"
"0000839462"	"00003366"	"70"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	"2"
"0000839463"	"00003366"	"70"	"240"	"0"	"240"	"0"	"c.240C>A"	"r.(?)"	"p.(Phe80Leu)"	"3"
"0000839464"	"00003366"	"70"	"399"	"0"	"399"	"0"	"c.399C>G"	"r.(?)"	"p.(Asn133Lys)"	"4"
"0000839465"	"00003366"	"70"	"403"	"0"	"403"	"0"	"c.403G>A"	"r.(?)"	"p.(Gly135Ser)"	"4"
"0000839466"	"00003366"	"70"	"419"	"0"	"419"	"0"	"c.419T>G"	"r.(?)"	"p.(Leu140Arg)"	"4"
"0000839467"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	"4"
"0000839468"	"00003366"	"70"	"602"	"0"	"602"	"0"	"c.(602T>C)"	"r.(?)"	"p.(Ile201Thr)"	"5"
"0000839469"	"00003366"	"70"	"828"	"0"	"828"	"0"	"c.828C>G"	"r.(?)"	"p.(Phe276Leu)"	"7"
"0000839470"	"00003366"	"70"	"848"	"0"	"850"	"0"	"c.848_850del"	"r.(?)"	"p.(Phe283del)"	"7"
"0000839471"	"00003366"	"70"	"910"	"0"	"912"	"0"	"c.910_912del"	"r.(?)"	"p.(Asp304del)"	"8"
"0000839472"	"00003366"	"70"	"910"	"0"	"912"	"0"	"c.910_912del"	"r.(?)"	"p.(Asp304del)"	"8"
"0000839473"	"00003366"	"70"	"16"	"0"	"16"	"0"	"c.16A>C"	"r.(?)"	"p.(Thr6Pro)"	"2"
"0000839474"	"00003366"	"70"	"25"	"0"	"25"	"0"	"c.25G>A"	"r.(?)"	"p.(Val9Met)"	"2"
"0000839475"	"00003366"	"70"	"28"	"0"	"28"	"0"	"c.28G>A"	"r.(?)"	"p.(Ala10Thr)"	"2"
"0000839476"	"00003366"	"70"	"61"	"0"	"61"	"0"	"c.61C>G"	"r.(?)"	"p.(Leu21Val)"	"2"
"0000839477"	"00003366"	"70"	"626"	"0"	"626"	"0"	"c.626G>A"	"r.(?)"	"p.(Ser209Asn)"	"5"
"0000839478"	"00003366"	"70"	"61"	"0"	"61"	"0"	"c.61C>G"	"r.(?)"	"p.(Leu21Val)"	"2"
"0000839479"	"00003366"	"70"	"626"	"0"	"626"	"0"	"c.626G>A"	"r.(?)"	"p.(Ser209Asn)"	"5"
"0000839480"	"00003366"	"70"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	"2"
"0000839481"	"00003366"	"70"	"81"	"0"	"81"	"0"	"c.81C>G"	"r.(?)"	"p.(Ser27Arg)"	"2"
"0000839482"	"00003366"	"70"	"140"	"0"	"140"	"0"	"c.140G>A"	"r.(?)"	"p.(Arg47His)"	"2"
"0000839483"	"00003366"	"70"	"176"	"0"	"176"	"0"	"c.176A>T"	"r.(?)"	"p.(Gln59Leu)"	"3"
"0000839484"	"00003366"	"70"	"274"	"0"	"274"	"0"	"c.274C>A"	"r.(?)"	"p.(Arg92Ser)"	"4"
"0000839485"	"00003366"	"70"	"297"	"0"	"297"	"0"	"c.297C>A"	"r.(?)"	"p.(Asn99Lys)"	"4"
"0000839486"	"00003366"	"70"	"297"	"0"	"297"	"0"	"c.297C>A"	"r.(?)"	"p.(Asn99Lys)"	"4"
"0000839487"	"00003366"	"70"	"299"	"0"	"299"	"0"	"c.299T>G"	"r.(?)"	"p.(Leu100Arg)"	"4"
"0000839488"	"00003366"	"70"	"299"	"0"	"299"	"0"	"c.299T>G"	"r.(?)"	"p.(Leu100Arg)"	"4"
"0000839489"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	"4"
"0000839490"	"00003366"	"70"	"636"	"1"	"636"	"1"	"c.636+1G>C"	"r.spl"	"p.(?)"	"5i"
"0000839491"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>A"	"r.(?)"	"p.(Arg218Ser)"	"6"
"0000839492"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>A"	"r.(?)"	"p.(Arg218Ser)"	"6"
"0000839493"	"00003366"	"70"	"670"	"0"	"670"	"0"	"c.670C>A"	"r.(?)"	"p.(Leu224Met)"	"6"
"0000839494"	"00003366"	"70"	"670"	"0"	"670"	"0"	"c.670C>A"	"r.(?)"	"p.(Leu224Met)"	"6"
"0000839495"	"00003366"	"70"	"693"	"0"	"693"	"0"	"c.693T>G"	"r.(?)"	"p.(Ser231Arg)"	"6"
"0000839496"	"00003366"	"70"	"710"	"0"	"710"	"0"	"c.710C>G"	"r.(?)"	"p.(Thr237Arg)"	"6"
"0000839497"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	"7"
"0000839498"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	"7"
"0000839499"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	"7"
"0000839500"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	"7"
"0000839501"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	"7"
"0000839502"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	"7"
"0000839503"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	"7"
"0000839504"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	"7"
"0000839505"	"00003366"	"70"	"884"	"0"	"886"	"0"	"c.884_886del"	"r.(?)"	"p.(Ile295del)"	"8"
"0000839506"	"00003366"	"70"	"884"	"0"	"886"	"0"	"c.884_886del"	"r.(?)"	"p.(Ile295del)"	"8"
"0000839507"	"00003366"	"70"	"884"	"0"	"886"	"0"	"c.884_886del"	"r.(?)"	"p.(Ile295del)"	"8"
"0000839508"	"00003366"	"70"	"884"	"0"	"886"	"0"	"c.884_886del"	"r.(?)"	"p.(Ile295del)"	"8"
"0000839509"	"00003366"	"70"	"884"	"0"	"886"	"0"	"c.884_886del"	"r.(?)"	"p.(Ile295del)"	"8"
"0000839510"	"00003366"	"70"	"898"	"0"	"898"	"0"	"c.898G>A"	"r.(?)"	"p.(Glu300Lys)"	"8"
"0000839511"	"00003366"	"70"	"901"	"0"	"901"	"0"	"c.901G>A"	"r.(?)"	"p.(Asp301Asn)"	"8"
"0000839512"	"00003366"	"70"	"903"	"0"	"903"	"0"	"c.903T>G"	"r.(?)"	"p.(Asp301Glu)"	"8"
"0000839513"	"00003366"	"70"	"903"	"0"	"903"	"0"	"c.903T>G"	"r.(?)"	"p.(Asp301Glu)"	"8"
"0000839514"	"00003366"	"70"	"929"	"0"	"929"	"0"	"c.929T>C"	"r.(?)"	"p.(Ile310Thr)"	"8"
"0000839515"	"00003366"	"70"	"932"	"0"	"932"	"0"	"c.932T>G"	"r.(?)"	"p.(Val311Gly)"	"8"
"0000839516"	"00003366"	"70"	"932"	"0"	"932"	"0"	"c.932T>G"	"r.(?)"	"p.(Val311Gly)"	"8"
"0000839517"	"00003366"	"70"	"934"	"0"	"934"	"0"	"c.934G>A"	"r.(?)"	"p.(Asp312Asn)"	"8"
"0000839518"	"00003366"	"70"	"47"	"0"	"47"	"0"	"c.47C>T"	"r.(?)"	"p.(Ser16Phe)"	"2"
"0000839519"	"00003366"	"70"	"47"	"0"	"47"	"0"	"c.47C>T"	"r.(?)"	"p.(Ser16Phe)"	"2"
"0000839520"	"00003366"	"70"	"47"	"0"	"47"	"0"	"c.47C>T"	"r.(?)"	"p.(Ser16Phe)"	"2"
"0000839521"	"00003366"	"70"	"47"	"0"	"47"	"0"	"c.47C>T"	"r.(?)"	"p.(Ser16Phe)"	"2"
"0000839522"	"00003366"	"70"	"50"	"0"	"50"	"0"	"c.50T>G"	"r.(?)"	"p.(Phe17Cys)"	"2"
"0000839523"	"00003366"	"70"	"218"	"0"	"218"	"0"	"c.218T>A"	"r.(?)"	"p.(Ile73Asn)"	"3"
"0000839524"	"00003366"	"70"	"275"	"0"	"275"	"0"	"c.275G>A"	"r.(?)"	"p.(Arg92His)"	"4"
"0000839525"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"6"
"0000839526"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"6"
"0000839527"	"00003366"	"70"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	"6"
"0000839528"	"00003366"	"70"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	"6"
"0000839529"	"00003366"	"70"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	"6"
"0000839530"	"00003366"	"70"	"703"	"0"	"703"	"0"	"c.703G>C"	"r.(?)"	"p.(Val235Leu)"	"6"
"0000839531"	"00003366"	"70"	"887"	"0"	"887"	"0"	"c.887A>G"	"r.(?)"	"p.(Asn296Ser)"	"8"
"0000839532"	"00003366"	"70"	"887"	"0"	"887"	"0"	"c.887A>G"	"r.(?)"	"p.(Asn296Ser)"	"8"
"0000839534"	"00003366"	"70"	"266"	"0"	"266"	"0"	"c.266T>C"	"r.(?)"	"p.(Val89Ala)"	"4"
"0000839535"	"00003366"	"70"	"266"	"0"	"266"	"0"	"c.266T>C"	"r.(?)"	"p.(Val89Ala)"	"4"
"0000839536"	"00003366"	"70"	"266"	"0"	"266"	"0"	"c.266T>C"	"r.(?)"	"p.(Val89Ala)"	"4"
"0000839537"	"00003366"	"70"	"266"	"0"	"266"	"0"	"c.266T>C"	"r.(?)"	"p.(Val89Ala)"	"4"
"0000839538"	"00003366"	"70"	"266"	"0"	"266"	"0"	"c.266T>C"	"r.(?)"	"p.(Val89Ala)"	"4"
"0000839539"	"00003366"	"70"	"647"	"0"	"647"	"0"	"c.647C>T"	"r.(?)"	"p.(Thr216Ile)"	"6"
"0000839540"	"00003366"	"50"	"1699"	"0"	"1699"	"0"	"c.1699C>T"	"r.(?)"	"p.(Leu567Phe)"	"10"
"0000839541"	"00003366"	"50"	"1699"	"0"	"1699"	"0"	"c.1699C>T"	"r.(?)"	"p.(Leu567Phe)"	"10"
"0000839542"	"00003366"	"70"	"355"	"0"	"355"	"0"	"c.355G>C"	"r.(?)"	"p.(Glu119Gln)"	"4"
"0000839543"	"00003366"	"70"	"436"	"0"	"437"	"0"	"c.436_437delinsAA"	"r.(?)"	"p.(Ala146Lys)"	"4"
"0000839546"	"00003366"	"70"	"905"	"0"	"905"	"0"	"c.905A>C"	"r.(?)"	"p.(Asp302Ala)"	""
"0000839547"	"00003366"	"70"	"900"	"0"	"900"	"0"	"c.900G>C"	"r.(?)"	"p.(Glu300Asp)"	""
"0000839548"	"00003366"	"70"	"727"	"0"	"727"	"0"	"c.727G>A"	"r.(?)"	"p.(Ala243Thr)"	""
"0000839549"	"00003366"	"70"	"889"	"0"	"889"	"0"	"c.(889C>G)"	"r.(?)"	"p.(Pro297Ala)"	""
"0000839550"	"00003366"	"70"	"679"	"0"	"679"	"0"	"c.679T>A"	"r.(?)"	"p.(Tyr227Asn)"	""
"0000839551"	"00003366"	"70"	"679"	"0"	"679"	"0"	"c.679T>A"	"r.(?)"	"p.(Tyr227Asn)"	""
"0000839552"	"00003366"	"70"	"89"	"0"	"89"	"0"	"c.89A>G"	"r.(?)"	"p.(Lys30Arg)"	""
"0000839553"	"00003366"	"70"	"727"	"0"	"727"	"0"	"c.727G>A"	"r.(?)"	"p.(Ala243Thr)"	""
"0000839555"	"00003366"	"70"	"884"	"0"	"884"	"0"	"c.884T>C"	"r.(?)"	"p.(Ile295Thr)"	""
"0000839556"	"00003366"	"70"	"884"	"0"	"884"	"0"	"c.884T>C"	"r.(?)"	"p.(Ile295Thr)"	""
"0000839557"	"00003366"	"70"	""	"0"	""	"0"	"904G>C"	"r.(?)"	"p.(Asp302His)"	"8"
"0000839558"	"00003366"	"70"	""	"0"	""	"0"	"909T>A"	"r.(?)"	"p.(Asp303Glu)"	"8"
"0000839559"	"00003366"	"70"	""	"0"	""	"0"	"923A>G"	"r.(?)"	"p.(Asn308Ser)"	"8"
"0000839561"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	""
"0000839562"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	""
"0000839563"	"00003366"	"70"	"920"	"0"	"920"	"0"	"c.920C>T"	"r.(?)"	"p.(Thr307Ile)"	""
"0000839564"	"00003366"	"70"	"920"	"0"	"920"	"0"	"c.920C>T"	"r.(?)"	"p.(Thr307Ile)"	""
"0000839565"	"00003366"	"70"	"920"	"0"	"920"	"0"	"c.920C>T"	"r.(?)"	"p.(Thr307Ile)"	""
"0000839566"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	""
"0000839567"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	""
"0000839568"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	""
"0000839569"	"00003366"	"70"	"287"	"0"	"287"	"0"	"c.287A>G"	"r.(?)"	"p.(Gln96Arg)"	""
"0000839570"	"00003366"	"70"	"287"	"0"	"287"	"0"	"c.287A>G"	"r.(?)"	"p.(Gln96Arg)"	""
"0000839572"	"00003366"	"70"	"889"	"0"	"889"	"0"	"c.889C>T"	"r.(?)"	"p.(Pro297Ser)"	""
"0000839573"	"00003366"	"70"	"889"	"0"	"889"	"0"	"c.889C>T"	"r.(?)"	"p.(Pro297Ser)"	""
"0000839574"	"00003366"	"70"	"889"	"0"	"889"	"0"	"c.889C>T"	"r.(?)"	"p.(Pro297Ser)"	""
"0000839575"	"00003366"	"70"	"889"	"0"	"889"	"0"	"c.889C>T"	"r.(?)"	"p.(Pro297Ser)"	""
"0000839576"	"00003366"	"70"	"889"	"0"	"889"	"0"	"c.889C>T"	"r.(?)"	"p.(Pro297Ser)"	""
"0000839577"	"00003366"	"70"	"889"	"0"	"889"	"0"	"c.889C>T"	"r.(?)"	"p.(Pro297Ser)"	""
"0000839578"	"00003366"	"70"	"889"	"0"	"889"	"0"	"c.889C>T"	"r.(?)"	"p.(Pro297Ser)"	""
"0000839579"	"00003366"	"70"	"900"	"0"	"900"	"0"	"c.900G>C"	"r.(?)"	"p.(Glu300Asp)"	""
"0000839580"	"00003366"	"70"	"900"	"0"	"900"	"0"	"c.900G>C"	"r.(?)"	"p.(Glu300Asp)"	""
"0000839581"	"00003366"	"70"	"900"	"0"	"900"	"0"	"c.900G>C"	"r.(?)"	"p.(Glu300Asp)"	""
"0000839582"	"00003366"	"70"	"900"	"0"	"900"	"0"	"c.900G>C"	"r.(?)"	"p.(Glu300Asp)"	""
"0000839583"	"00003366"	"70"	"900"	"0"	"900"	"0"	"c.900G>C"	"r.(?)"	"p.(Glu300Asp)"	""
"0000839584"	"00003366"	"70"	"900"	"0"	"900"	"0"	"c.900G>C"	"r.(?)"	"p.(Glu300Asp)"	""
"0000839585"	"00003366"	"70"	"900"	"0"	"900"	"0"	"c.900G>C"	"r.(?)"	"p.(Glu300Asp)"	""
"0000839586"	"00003366"	"70"	"32"	"0"	"32"	"0"	"c.32A>T"	"r.(?)"	"p.(Asn11Ile)"	"2"
"0000839587"	"00003366"	"70"	"76"	"0"	"76"	"0"	"c.76G>C"	"r.(?)"	"p.(Gly26Arg)"	"2"
"0000839588"	"00003366"	"70"	"85"	"0"	"85"	"0"	"c.85T>C"	"r.(?)"	"p.(Tyr29His)"	"2"
"0000839589"	"00003366"	"70"	"122"	"0"	"122"	"0"	"c.122T>C"	"r.(?)"	"p.(Leu41Pro)"	"2"
"0000839590"	"00003366"	"70"	"299"	"0"	"299"	"0"	"c.299T>G"	"r.(?)"	"p.(Leu100Arg)"	"4"
"0000839591"	"00003366"	"70"	"304"	"0"	"304"	"0"	"c.304T>C"	"r.(?)"	"p.(Trp102Arg)"	"4"
"0000839592"	"00003366"	"70"	"310"	"0"	"310"	"0"	"c.310G>C"	"r.(?)"	"p.(Asp104His)"	"4"
"0000839593"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	"5"
"0000839594"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>A"	"r.(?)"	"p.(Arg218Ser)"	"6"
"0000839595"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"6"
"0000839596"	"00003366"	"70"	"710"	"0"	"710"	"0"	"c.710C>G"	"r.(?)"	"p.(Thr237Arg)"	"6"
"0000839597"	"00003366"	"70"	"722"	"0"	"722"	"0"	"c.722C>A"	"r.(?)"	"p.(Thr241Asn)"	"7"
"0000839598"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	"7"
"0000839599"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	"7"
"0000839600"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	"7"
"0000839601"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	"7"
"0000839602"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	"7"
"0000839603"	"00003366"	"70"	"779"	"0"	"779"	"0"	"c.779delC"	"r.(?)"	"p.(Pro260Glnfs*29)"	"7"
"0000839604"	"00003366"	"70"	"880"	"0"	"880"	"0"	"c.880C>G"	"r.(?)"	"p.(Leu294Val)"	"8"
"0000839605"	"00003366"	"70"	"884"	"0"	"884"	"0"	"c.884delTCA"	"r.(?)"	"p.(Ile295del)"	"8"
"0000839606"	"00003366"	"70"	"884"	"0"	"884"	"0"	"c.884delTCA"	"r.(?)"	"p.(Ile295del)"	"8"
"0000839607"	"00003366"	"70"	"884"	"0"	"884"	"0"	"c.884delTCA"	"r.(?)"	"p.(Ile295del)"	"8"
"0000839608"	"00003366"	"70"	"884"	"0"	"884"	"0"	"c.884delTCA"	"r.(?)"	"p.(Ile295del)"	"8"
"0000839609"	"00003366"	"70"	"884"	"0"	"884"	"0"	"c.884delTCA"	"r.(?)"	"p.(Ile295del)"	"8"
"0000839610"	"00003366"	"70"	"884"	"0"	"884"	"0"	"c.884T>C"	"r.(?)"	"p.(Ile295Thr)"	"8"
"0000839611"	"00003366"	"70"	"893"	"0"	"893"	"0"	"c.893T>C"	"r.(?)"	"p.(Phe298Ser)"	"8"
"0000839612"	"00003366"	"70"	"903"	"0"	"903"	"0"	"c.903T>G"	"r.(?)"	"p.(Asp301Glu)"	"8"
"0000839615"	"00003366"	"70"	"256"	"0"	"256"	"0"	"c.256G>A"	"r.spl"	"p.V86M"	""
"0000839616"	"00003366"	"70"	"715"	"0"	"715"	"0"	"c.715G>A"	"r.spl"	"p.V239M"	""
"0000839617"	"00003366"	"70"	"256"	"0"	"256"	"0"	"c.256G>A"	"r.spl"	"p.V86M"	""
"0000839618"	"00003366"	"70"	"256"	"0"	"256"	"0"	"c.256G>A"	"r.spl"	"p.V86M"	""
"0000839619"	"00003366"	"70"	"707"	"0"	"707"	"0"	"c.707A>G"	"r.spl"	"p.Y236C"	""
"0000839620"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	""
"0000839621"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	""
"0000839622"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	""
"0000839623"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	""
"0000839651"	"00003366"	"50"	"624"	"0"	"624"	"0"	"c.624G>A"	"r.(?)"	"p.(Gln208=)"	""
"0000839652"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	""
"0000839653"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	""
"0000839654"	"00003366"	"70"	"903"	"0"	"903"	"0"	"c.903T>G"	"r.(?)"	"p.(Asp301Glu)"	""
"0000839655"	"00003366"	"70"	"903"	"0"	"903"	"0"	"c.903T>G"	"r.(?)"	"p.(Asp301Glu)"	""
"0000839656"	"00003366"	"70"	"903"	"0"	"903"	"0"	"c.903T>G"	"r.(?)"	"p.(Asp301Glu)"	""
"0000839657"	"00003366"	"70"	"903"	"0"	"903"	"0"	"c.903T>G"	"r.(?)"	"p.(Asp301Glu)"	""
"0000839658"	"00003366"	"70"	"903"	"0"	"903"	"0"	"c.903T>G"	"r.(?)"	"p.(Asp301Glu)"	""
"0000839659"	"00003366"	"70"	"903"	"0"	"903"	"0"	"c.903T>G"	"r.(?)"	"p.(Asp301Glu)"	""
"0000839660"	"00003366"	"70"	"893"	"0"	"893"	"0"	"c.893T>C"	"r.(?)"	"p.(Phe298Ser)"	""
"0000839661"	"00003366"	"70"	"173"	"0"	"173"	"0"	"c.173A>T"	"r.(?)"	"p.(Gln58Leu)"	""
"0000839662"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>A"	"r.(?)"	"p.(Arg218Ser)"	""
"0000839663"	"00003366"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.(?)"	""
"0000839664"	"00003366"	"70"	"274"	"0"	"274"	"0"	"c.274C>A"	"r.(?)"	"p.(Arg92Ser)"	""
"0000839665"	"00003366"	"70"	"25"	"0"	"25"	"0"	"c.25G>A"	"r.(?)"	"p.(Val9Met)"	""
"0000839666"	"00003366"	"70"	"304"	"0"	"304"	"0"	"c.304T>C"	"r.(?)"	"p.(Trp102Arg)"	""
"0000839673"	"00003366"	"70"	"679"	"0"	"679"	"0"	"c.679T>A"	"r.(?)"	"p.(Tyr227Asn)"	""
"0000839678"	"00003366"	"70"	"884"	"0"	"886"	"0"	"c.884_886del"	"r.(?)"	"p.(Ile295del)"	""
"0000839679"	"00003366"	"70"	"884"	"0"	"886"	"0"	"c.884_886del"	"r.(?)"	"p.(Ile295del)"	""
"0000839680"	"00003366"	"70"	"884"	"0"	"886"	"0"	"c.884_886del"	"r.(?)"	"p.(Ile295del)"	""
"0000839681"	"00003366"	"70"	"884"	"0"	"886"	"0"	"c.884_886del"	"r.(?)"	"p.(Ile295del)"	""
"0000839682"	"00003366"	"70"	"884"	"0"	"886"	"0"	"c.884_886del"	"r.(?)"	"p.(Ile295del)"	""
"0000839683"	"00003366"	"70"	"884"	"0"	"886"	"0"	"c.884_886del"	"r.(?)"	"p.(Ile295del)"	""
"0000839684"	"00003366"	"70"	"884"	"0"	"886"	"0"	"c.884_886del"	"r.(?)"	"p.(Ile295del)"	""
"0000839685"	"00003366"	"70"	"884"	"0"	"886"	"0"	"c.884_886del"	"r.(?)"	"p.(Ile295del)"	""
"0000839686"	"00003366"	"70"	"884"	"0"	"886"	"0"	"c.884_886del"	"r.(?)"	"p.(Ile295del)"	""
"0000839687"	"00003366"	"70"	"297"	"0"	"297"	"0"	"c.297C>A"	"r.(?)"	"p.(Asn99Lys)"	""
"0000839688"	"00003366"	"70"	"297"	"0"	"297"	"0"	"c.297C>A"	"r.(?)"	"p.(Asn99Lys)"	""
"0000839689"	"00003366"	"70"	"297"	"0"	"297"	"0"	"c.297C>A"	"r.(?)"	"p.(Asn99Lys)"	""
"0000839690"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	""
"0000839691"	"00003366"	"70"	"680"	"0"	"680"	"0"	"c.680A>T"	"r.(?)"	"p.(Tyr227Phe)"	""
"0000839692"	"00003366"	"70"	"710"	"0"	"710"	"0"	"c.710C>G"	"r.(?)"	"p.(Thr237Arg)"	""
"0000839693"	"00003366"	"70"	"710"	"0"	"710"	"0"	"c.710C>G"	"r.(?)"	"p.(Thr237Arg)"	""
"0000839694"	"00003366"	"70"	"709"	"0"	"709"	"0"	"c.709A>T"	"r.(?)"	"p.(Thr237Ser)"	""
"0000839695"	"00003366"	"70"	"709"	"0"	"709"	"0"	"c.709A>T"	"r.(?)"	"p.(Thr237Ser)"	""
"0000839696"	"00003366"	"70"	"709"	"0"	"709"	"0"	"c.709A>T"	"r.(?)"	"p.(Thr237Ser)"	""
"0000839697"	"00003366"	"70"	"695"	"0"	"695"	"0"	"c.695T>A"	"r.(?)"	"p.(Ile232Asn)"	""
"0000839698"	"00003366"	"70"	"87"	"0"	"87"	"0"	"c.87C>G"	"r.(?)"	"p.(Tyr29*)"	""
"0000839699"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000839700"	"00003366"	"70"	"87"	"0"	"87"	"0"	"c.87C>G"	"r.(?)"	"p.(Tyr29*)"	""
"0000839701"	"00003366"	"70"	"87"	"0"	"87"	"0"	"c.87C>G"	"r.(?)"	"p.(Tyr29*)"	""
"0000839702"	"00003366"	"70"	"87"	"0"	"87"	"0"	"c.87C>G"	"r.(?)"	"p.(Tyr29*)"	""
"0000839703"	"00003366"	"70"	"87"	"0"	"87"	"0"	"c.87C>G"	"r.(?)"	"p.(Tyr29*)"	""
"0000839704"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000839705"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000839783"	"00003366"	"70"	"16"	"0"	"16"	"0"	"c.16A>G"	"r.(?)"	"p.(Thr6Ala)"	"2"
"0000839785"	"00003366"	"70"	"339"	"0"	"339"	"0"	"c.339C>G"	"r.(?)"	"p.(Phe113Leu)"	"4"
"0000839786"	"00003366"	"70"	"339"	"0"	"339"	"0"	"c.339C>G"	"r.(?)"	"p.(Phe113Leu)"	"4"
"0000839815"	"00003366"	"70"	"400"	"0"	"400"	"0"	"c.400C>G"	"r.(?)"	"p.(Leu134Val)"	"4"
"0000839816"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"6"
"0000839817"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"6"
"0000839818"	"00003366"	"70"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	"6"
"0000839819"	"00003366"	"70"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	"6"
"0000839820"	"00003366"	"70"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	"6"
"0000839821"	"00003366"	"70"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	"6"
"0000839822"	"00003366"	"70"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	"6"
"0000839823"	"00003366"	"70"	"665"	"0"	"665"	"0"	"c.665G>A"	"r.(?)"	"p.(Gly222Glu)"	"6"
"0000839824"	"00003366"	"70"	"692"	"0"	"692"	"0"	"c.692G>C"	"r.(?)"	"p.(Ser231Thr)"	"6"
"0000839825"	"00003366"	"70"	"698"	"0"	"698"	"0"	"c.698C>A"	"r.(?)"	"p.(Pro233Gln)"	"6"
"0000839826"	"00003366"	"70"	"879"	"0"	"879"	"0"	"c.879G>C"	"r.(?)"	"p.(Gln293His)"	"8"
"0000839827"	"00003366"	"70"	"879"	"0"	"879"	"0"	"c.879G>C"	"r.(?)"	"p.(Gln293His)"	"8"
"0000839828"	"00003366"	"70"	"879"	"0"	"879"	"0"	"c.879G>C"	"r.(?)"	"p.(Gln293His)"	"8"
"0000839829"	"00003366"	"70"	"879"	"0"	"879"	"0"	"c.879G>C"	"r.(?)"	"p.(Gln293His)"	"8"
"0000839830"	"00003366"	"70"	"879"	"0"	"879"	"0"	"c.879G>C"	"r.(?)"	"p.(Gln293His)"	"8"
"0000839831"	"00003366"	"70"	"879"	"0"	"879"	"0"	"c.879G>C"	"r.(?)"	"p.(Gln293His)"	"8"
"0000839832"	"00003366"	"70"	"879"	"0"	"879"	"0"	"c.879G>C"	"r.(?)"	"p.(Gln293His)"	"8"
"0000839833"	"00003366"	"70"	"879"	"0"	"879"	"0"	"c.879G>C"	"r.(?)"	"p.(Gln293His)"	"8"
"0000839834"	"00003366"	"70"	"880"	"0"	"880"	"0"	"c.880C>G"	"r.(?)"	"p.(Leu294Val)"	"8"
"0000839835"	"00003366"	"70"	"895"	"0"	"895"	"0"	"c.895G>A"	"r.(?)"	"p.(Gly299Arg)"	"8"
"0000839836"	"00003366"	"70"	"917"	"0"	"917"	"0"	"c.917A>G"	"r.(?)"	"p.(Glu306Gly)"	"8"
"0000839837"	"00003366"	"70"	"923"	"0"	"923"	"0"	"c.923A>G"	"r.(?)"	"p.(Asn308Ser)"	"8"
"0000839839"	"00003366"	"70"	"279"	"0"	"279"	"0"	"c.279G>C"	"r.(?)"	"p.(Trp93Cys)"	"4"
"0000839840"	"00003366"	"70"	"279"	"0"	"279"	"0"	"c.279G>C"	"r.(?)"	"p.(Trp93Cys)"	"4"
"0000839841"	"00003366"	"70"	"279"	"0"	"279"	"0"	"c.279G>C"	"r.(?)"	"p.(Trp93Cys)"	"4"
"0000839842"	"00003366"	"70"	"279"	"0"	"279"	"0"	"c.279G>C"	"r.(?)"	"p.(Trp93Cys)"	"4"
"0000839843"	"00003366"	"70"	"279"	"0"	"279"	"0"	"c.279G>C"	"r.(?)"	"p.(Trp93Cys)"	"4"
"0000839844"	"00003366"	"70"	"279"	"0"	"279"	"0"	"c.279G>C"	"r.(?)"	"p.(Trp93Cys)"	"4"
"0000839845"	"00003366"	"70"	"279"	"0"	"279"	"0"	"c.279G>C"	"r.(?)"	"p.(Trp93Cys)"	"4"
"0000839846"	"00003366"	"70"	"279"	"0"	"279"	"0"	"c.279G>C"	"r.(?)"	"p.(Trp93Cys)"	"4"
"0000839847"	"00003366"	"70"	"279"	"0"	"279"	"0"	"c.279G>C"	"r.(?)"	"p.(Trp93Cys)"	"4"
"0000839848"	"00003366"	"70"	"279"	"0"	"279"	"0"	"c.279G>C"	"r.(?)"	"p.(Trp93Cys)"	"4"
"0000839849"	"00003366"	"70"	"279"	"0"	"279"	"0"	"c.279G>C"	"r.(?)"	"p.(Trp93Cys)"	"4"
"0000839859"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>G"	"r.(?)"	"p.(Arg218Gly)"	""
"0000839860"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>G"	"r.(?)"	"p.(Arg218Gly)"	""
"0000839861"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>G"	"r.(?)"	"p.(Arg218Gly)"	""
"0000839862"	"00003366"	"70"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	""
"0000839863"	"00003366"	"70"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	""
"0000839864"	"00003366"	"70"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	""
"0000839865"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	""
"0000839866"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	""
"0000839867"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	""
"0000839868"	"00003366"	"70"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	""
"0000839869"	"00003366"	"70"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	""
"0000839870"	"00003366"	"70"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	""
"0000839875"	"00003366"	"70"	"400"	"0"	"400"	"0"	"c.400C>G"	"r.(?)"	"p.(Leu134Val)"	""
"0000839876"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000839877"	"00003366"	"70"	"888"	"0"	"888"	"0"	"c.888C>A"	"r.(?)"	"p.(Asn296Lys)"	""
"0000839878"	"00003366"	"70"	"16"	"0"	"16"	"0"	"c.16A>C"	"r.(?)"	"p.(Thr6Pro)"	""
"0000839879"	"00003366"	"70"	"583"	"0"	"584"	"0"	"c.583_584insTGG"	"r.(?)"	"p.(Lys194_Ala195insVal)"	""
"0000839880"	"00003366"	"70"	"904"	"0"	"912"	"0"	"c.904_912delGATGATGAT"	"r.(?)"	"p.(Asp302_Asp304del)"	""
"0000839881"	"00003366"	"70"	"47"	"0"	"47"	"0"	"c.47C>A"	"r.(?)"	"p.(Ser16Tyr)"	""
"0000839882"	"00003366"	"70"	"893"	"0"	"893"	"0"	"c.893T>C"	"r.(?)"	"p.(Phe298Ser)"	""
"0000839883"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000839884"	"00003366"	"70"	"16"	"0"	"16"	"0"	"c.16A>C"	"r.(?)"	"p.(Thr6Pro)"	""
"0000839915"	"00003366"	"70"	"598"	"0"	"598"	"0"	"c.598C>T"	"r.(?)"	"p.(Arg200*)"	"p.(Arg200*)"
"0000839916"	"00003366"	"70"	"598"	"0"	"598"	"0"	"c.598C>T"	"r.(?)"	"p.(Arg200*)"	"p.(Arg200*)"
"0000839917"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	"p.(Arg141His)"
"0000839918"	"00003366"	"70"	"122"	"0"	"122"	"0"	"c.122T>C"	"r.(?)"	"p.(Leu41Pro)"	"p.(Leu41Pro)"
"0000839919"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	"p.(Arg141His)"
"0000839920"	"00003366"	"70"	"934"	"0"	"934"	"0"	"c.934G>A"	"r.(?)"	"p.(Asp312Asn)"	"p.(Asp312Asn)"
"0000839921"	"00003366"	"70"	"934"	"0"	"934"	"0"	"c.934G>A"	"r.(?)"	"p.(Asp312Asn)"	"p.(Asp312Asn)"
"0000839922"	"00003366"	"70"	"949"	"0"	"949"	"0"	"c.949G>A"	"r.(?)"	"p.(Val317Met)"	"p.(Val317Met)"
"0000839923"	"00003366"	"70"	"454"	"0"	"454"	"0"	"c.454C>G"	"r.(?)"	"p.(Pro152Ala)"	"p.(Pro152Ala)"
"0000839924"	"00003366"	"70"	"122"	"0"	"122"	"0"	"c.122T>C"	"r.(?)"	"p.(Leu41Pro)"	"p.(Leu41Pro)"
"0000839925"	"00003366"	"70"	"974"	"0"	"974"	"0"	"c.974T>C"	"r.(?)"	"p.(Met325Thr)"	"p.(Met325Thr)"
"0000839926"	"00003366"	"70"	"974"	"0"	"974"	"0"	"c.974T>C"	"r.(?)"	"p.(Met325Thr)"	"p.(Met325Thr)"
"0000839929"	"00003366"	"70"	"704"	"0"	"704"	"0"	"c.704T>C"	"r.(?)"	"p.(Val235Ala)"	""
"0000839930"	"00003366"	"70"	"704"	"0"	"704"	"0"	"c.704T>C"	"r.(?)"	"p.(Val235Ala)"	""
"0000839933"	"00003366"	"70"	"915"	"0"	"915"	"0"	"c.915T>G"	"r.(?)"	"p.(Phe305Leu)"	"8"
"0000839934"	"00003366"	"70"	"915"	"0"	"915"	"0"	"c.915T>G"	"r.(?)"	"p.(Phe305Leu)"	"8"
"0000839935"	"00003366"	"70"	"915"	"0"	"915"	"0"	"c.915T>G"	"r.(?)"	"p.(Phe305Leu)"	"8"
"0000839949"	"00003366"	"70"	"724"	"0"	"724"	"0"	"c.724G>A"	"r.(?)"	"p.(Val242Met)"	"7"
"0000839950"	"00003366"	"70"	"724"	"0"	"724"	"0"	"c.724G>A"	"r.(?)"	"p.(Val242Met)"	"7"
"0000839951"	"00003366"	"70"	"724"	"0"	"724"	"0"	"c.724G>A"	"r.(?)"	"p.(Val242Met)"	"7"
"0000839952"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"6"
"0000839953"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"6"
"0000839954"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"6"
"0000839955"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"6"
"0000839956"	"00003366"	"70"	"903"	"0"	"903"	"0"	"c.903T>G"	"r.(?)"	"p.(Asp301Glu)"	"8"
"0000839957"	"00003366"	"70"	"903"	"0"	"903"	"0"	"c.903T>G"	"r.(?)"	"p.(Asp301Glu)"	"8"
"0000839958"	"00003366"	"70"	"903"	"0"	"903"	"0"	"c.903T>G"	"r.(?)"	"p.(Asp301Glu)"	"8"
"0000839959"	"00003366"	"70"	"903"	"0"	"903"	"0"	"c.903T>G"	"r.(?)"	"p.(Asp301Glu)"	"8"
"0000839960"	"00003366"	"70"	"903"	"0"	"903"	"0"	"c.903T>G"	"r.(?)"	"p.(Asp301Glu)"	"8"
"0000839966"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	"5"
"0000839967"	"00003366"	"70"	"262"	"0"	"280"	"0"	"c.(262_280)delN[17]"	"r.(?)"	"p.?"	""
"0000839968"	"00003366"	"70"	"16"	"0"	"16"	"0"	"c.16A>C"	"r.(?)"	"p.(Thr6Pro)"	""
"0000839969"	"00003366"	"70"	"16"	"0"	"16"	"0"	"c.16A>C"	"r.(?)"	"p.(Thr6Pro)"	""
"0000839970"	"00003366"	"70"	"16"	"0"	"16"	"0"	"c.16A>C"	"r.(?)"	"p.(Thr6Pro)"	""
"0000839971"	"00003366"	"70"	"16"	"0"	"16"	"0"	"c.16A>C"	"r.(?)"	"p.(Thr6Pro)"	""
"0000839972"	"00003366"	"70"	"16"	"0"	"16"	"0"	"c.16A>C"	"r.(?)"	"p.(Thr6Pro)"	""
"0000839973"	"00003366"	"70"	"16"	"0"	"16"	"0"	"c.16A>C"	"r.(?)"	"p.(Thr6Pro)"	""
"0000839974"	"00003366"	"70"	"16"	"0"	"16"	"0"	"c.16A>C"	"r.(?)"	"p.(Thr6Pro)"	""
"0000839975"	"00003366"	"70"	"16"	"0"	"16"	"0"	"c.16A>C"	"r.(?)"	"p.(Thr6Pro)"	""
"0000839976"	"00003366"	"70"	"16"	"0"	"16"	"0"	"c.16A>C"	"r.(?)"	"p.(Thr6Pro)"	""
"0000839977"	"00003366"	"70"	"583"	"0"	"584"	"0"	"c.583_584insTGG"	"r.(?)"	"p.(Lys194_Ala195insVal)"	""
"0000839978"	"00003366"	"70"	"244"	"0"	"244"	"0"	"c.244C>G"	"r.(?)"	"p.(Leu82Val)"	""
"0000839979"	"00003366"	"70"	"679"	"0"	"679"	"0"	"c.679T>A"	"r.(?)"	"p.(Tyr227Asn)"	""
"0000839980"	"00003366"	"70"	"679"	"0"	"679"	"0"	"c.679T>A"	"r.(?)"	"p.(Tyr227Asn)"	""
"0000839981"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	""
"0000839982"	"00003366"	"70"	"8"	"0"	"8"	"0"	"c.8T>C"	"r.(?)"	"p.(Ile3Thr)"	""
"0000839983"	"00003366"	"70"	"904"	"0"	"912"	"0"	"c.904_912del"	"r.(?)"	"p.(Asp302_Asp304del)"	""
"0000839984"	"00003366"	"70"	"904"	"0"	"912"	"0"	"c.904_912del"	"r.(?)"	"p.(Asp302_Asp304del)"	""
"0000839985"	"00003366"	"70"	"904"	"0"	"912"	"0"	"c.904_912del"	"r.(?)"	"p.(Asp302_Asp304del)"	""
"0000839986"	"00003366"	"70"	"895"	"0"	"895"	"0"	"c.895G>C"	"r.(?)"	"p.(Gly299Arg)"	""
"0000839987"	"00003366"	"70"	"895"	"0"	"895"	"0"	"c.895G>C"	"r.(?)"	"p.(Gly299Arg)"	""
"0000839991"	"00003366"	"70"	"874"	"0"	"874"	"0"	"c.874G>A"	"r.(?)"	"p.(Glu292Lys)"	""
"0000839992"	"00003366"	"70"	"874"	"0"	"874"	"0"	"c.874G>A"	"r.(?)"	"p.(Glu292Lys)"	""
"0000839993"	"00003366"	"70"	"874"	"0"	"874"	"0"	"c.874G>A"	"r.(?)"	"p.(Glu292Lys)"	""
"0000839994"	"00003366"	"70"	"874"	"0"	"874"	"0"	"c.874G>A"	"r.(?)"	"p.(Glu292Lys)"	""
"0000840066"	"00003366"	"70"	"614"	"0"	"614"	"0"	"c.614T>C"	"r.(?)"	"p.(Ile205Thr)"	""
"0000840067"	"00003366"	"70"	"614"	"0"	"614"	"0"	"c.614T>C"	"r.(?)"	"p.(Ile205Thr)"	""
"0000840068"	"00003366"	"70"	"614"	"0"	"614"	"0"	"c.614T>C"	"r.(?)"	"p.(Ile205Thr)"	""
"0000840069"	"00003366"	"70"	"614"	"0"	"614"	"0"	"c.614T>C"	"r.(?)"	"p.(Ile205Thr)"	""
"0000840070"	"00003366"	"70"	"614"	"0"	"614"	"0"	"c.614T>C"	"r.(?)"	"p.(Ile205Thr)"	""
"0000840071"	"00003366"	"70"	"614"	"0"	"614"	"0"	"c.614T>C"	"r.(?)"	"p.(Ile205Thr)"	""
"0000840072"	"00003366"	"70"	"614"	"0"	"614"	"0"	"c.614T>C"	"r.(?)"	"p.(Ile205Thr)"	""
"0000840073"	"00003366"	"70"	"614"	"0"	"614"	"0"	"c.614T>C"	"r.(?)"	"p.(Ile205Thr)"	""
"0000840074"	"00003366"	"70"	"614"	"0"	"614"	"0"	"c.614T>C"	"r.(?)"	"p.(Ile205Thr)"	""
"0000840075"	"00003366"	"70"	"614"	"0"	"614"	"0"	"c.614T>C"	"r.(?)"	"p.(Ile205Thr)"	""
"0000840076"	"00003366"	"90"	"682"	"0"	"682"	"0"	"c.682G>A"	"r.(?)"	"p.(Asp228Asn)"	""
"0000840077"	"00003366"	"90"	"682"	"0"	"682"	"0"	"c.682G>A"	"r.(?)"	"p.(Asp228Asn)"	""
"0000840078"	"00003366"	"90"	"682"	"0"	"682"	"0"	"c.682G>A"	"r.(?)"	"p.(Asp228Asn)"	""
"0000840079"	"00003366"	"90"	"682"	"0"	"682"	"0"	"c.682G>A"	"r.(?)"	"p.(Asp228Asn)"	""
"0000840080"	"00003366"	"90"	"680"	"0"	"680"	"0"	"c.680A>G"	"r.(?)"	"p.(Tyr227Cys)"	""
"0000840081"	"00003366"	"90"	"418"	"0"	"418"	"0"	"c.418C>G"	"r.(?)"	"p.(Leu140Val)"	""
"0000840082"	"00003366"	"90"	"418"	"0"	"418"	"0"	"c.418C>G"	"r.(?)"	"p.(Leu140Val)"	""
"0000840083"	"00003366"	"90"	"418"	"0"	"418"	"0"	"c.418C>G"	"r.(?)"	"p.(Leu140Val)"	""
"0000840088"	"00003366"	"70"	"223"	"0"	"223"	"0"	"c.223C>T"	"r.(?)"	"p.(Leu75Phe)"	""
"0000840089"	"00003366"	"70"	"223"	"0"	"223"	"0"	"c.223C>T"	"r.(?)"	"p.(Leu75Phe)"	""
"0000840090"	"00003366"	"70"	"223"	"0"	"223"	"0"	"c.223C>T"	"r.(?)"	"p.(Leu75Phe)"	""
"0000840091"	"00003366"	"70"	"223"	"0"	"223"	"0"	"c.223C>T"	"r.(?)"	"p.(Leu75Phe)"	""
"0000840092"	"00003366"	"70"	"223"	"0"	"223"	"0"	"c.223C>T"	"r.(?)"	"p.(Leu75Phe)"	""
"0000840093"	"00003366"	"70"	"223"	"0"	"223"	"0"	"c.223C>T"	"r.(?)"	"p.(Leu75Phe)"	""
"0000840094"	"00003366"	"70"	"223"	"0"	"223"	"0"	"c.223C>T"	"r.(?)"	"p.(Leu75Phe)"	""
"0000840095"	"00003366"	"70"	"223"	"0"	"223"	"0"	"c.223C>T"	"r.(?)"	"p.(Leu75Phe)"	""
"0000840096"	"00003366"	"70"	"223"	"0"	"223"	"0"	"c.223C>T"	"r.(?)"	"p.(Leu75Phe)"	""
"0000840097"	"00003366"	"70"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255Trp)"	""
"0000840098"	"00003366"	"70"	"431"	"0"	"431"	"0"	"c.431G>A"	"r.(?)"	"p.(Ser144Asn)"	""
"0000840099"	"00003366"	"70"	"889"	"0"	"889"	"0"	"c.889C>A"	"r.(?)"	"p.(Pro297Thr)"	""
"0000840100"	"00003366"	"70"	"5"	"0"	"5"	"0"	"c.5C>A"	"r.(?)"	"p.(Thr2Asn)"	""
"0000840101"	"00003366"	"70"	"5"	"0"	"5"	"0"	"c.5C>A"	"r.(?)"	"p.(Thr2Asn)"	""
"0000840102"	"00003366"	"70"	"902"	"0"	"902"	"0"	"c.902A>G"	"r.(?)"	"p.(Asp301Gly)"	""
"0000840103"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	""
"0000840104"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	""
"0000840105"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	""
"0000840120"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	"7"
"0000840121"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	"7"
"0000840122"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	"7"
"0000840123"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	"7"
"0000840124"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	"7"
"0000840125"	"00003366"	"70"	"275"	"0"	"275"	"0"	"c.275G>A"	"r.(?)"	"p.(Arg92His)"	"4"
"0000840126"	"00003366"	"70"	"275"	"0"	"275"	"0"	"c.275G>A"	"r.(?)"	"p.(Arg92His)"	"4"
"0000840127"	"00003366"	"70"	"274"	"0"	"274"	"0"	"c.274C>T"	"r.(?)"	"p.(Arg92Cys)"	"4"
"0000840128"	"00003366"	"70"	"44"	"0"	"44"	"0"	"c.44G>A"	"r.(?)"	"p.(Gly15Asp)"	"2"
"0000840129"	"00003366"	"70"	"44"	"0"	"44"	"0"	"c.44G>A"	"r.(?)"	"p.(Gly15Asp)"	"2"
"0000840130"	"00003366"	"70"	"274"	"0"	"274"	"0"	"c.274C>T"	"r.(?)"	"p.(Arg92Cys)"	"4"
"0000840131"	"00003366"	"70"	"689"	"0"	"689"	"0"	"c.689T>C"	"r.(?)"	"p.(Ile230Thr)"	"7"
"0000840132"	"00003366"	"70"	"689"	"0"	"689"	"0"	"c.689T>C"	"r.(?)"	"p.(Ile230Thr)"	"7"
"0000840133"	"00003366"	"70"	"689"	"0"	"689"	"0"	"c.689T>C"	"r.(?)"	"p.(Ile230Thr)"	"7"
"0000840134"	"00003366"	"70"	"272"	"0"	"272"	"0"	"c.272C>T"	"r.(?)"	"p.(Thr91Ile)"	"4"
"0000840135"	"00003366"	"70"	"272"	"0"	"272"	"0"	"c.272C>T"	"r.(?)"	"p.(Thr91Ile)"	"4"
"0000840136"	"00003366"	"70"	"10"	"0"	"10"	"0"	"c.10A>G"	"r.(?)"	"p.(Thr4Ala)"	"2"
"0000840137"	"00003366"	"70"	"10"	"0"	"10"	"0"	"c.10A>G"	"r.(?)"	"p.(Thr4Ala)"	"2"
"0000840138"	"00003366"	"70"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	"2"
"0000840139"	"00003366"	"70"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	"2"
"0000840140"	"00003366"	"70"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	"2"
"0000840141"	"00003366"	"70"	"26"	"0"	"26"	"0"	"c.26T>C"	"r.(?)"	"p.(Val9Ala)"	"2"
"0000840142"	"00003366"	"70"	"26"	"0"	"26"	"0"	"c.26T>C"	"r.(?)"	"p.(Val9Ala)"	"2"
"0000840688"	"00003366"	"70"	"87"	"0"	"87"	"0"	"c.87C>G"	"r.(?)"	"p.(Tyr29*)"	"2"
"0000840689"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	"4"
"0000840690"	"00003366"	"70"	"87"	"0"	"87"	"0"	"c.87C>G"	"r.(?)"	"p.(Tyr29*)"	"2"
"0000840691"	"00003366"	"70"	"87"	"0"	"87"	"0"	"c.87C>G"	"r.(?)"	"p.(Tyr29*)"	"2"
"0000840692"	"00003366"	"70"	"266"	"0"	"266"	"0"	"c.266T>C"	"r.(?)"	"p.(Val89Ala)"	"4"
"0000840693"	"00003366"	"70"	"266"	"0"	"266"	"0"	"c.266T>C"	"r.(?)"	"p.(Val89Ala)"	"4"
"0000840694"	"00003366"	"70"	"266"	"0"	"266"	"0"	"c.266T>C"	"r.(?)"	"p.(Val89Ala)"	"4"
"0000840695"	"00003366"	"70"	"312"	"0"	"312"	"0"	"c.312C>A"	"r.(?)"	"p.(Asp104Glu)"	"4"
"0000840696"	"00003366"	"70"	"253"	"0"	"253"	"0"	"c.253T>C"	"r.(?)"	"p.(Tyr85His)"	"4"
"0000840697"	"00003366"	"70"	"253"	"0"	"253"	"0"	"c.253T>C"	"r.(?)"	"p.(Tyr85His)"	"4"
"0000840698"	"00003366"	"70"	"253"	"0"	"253"	"0"	"c.253T>C"	"r.(?)"	"p.(Tyr85His)"	"4"
"0000840699"	"00003366"	"70"	"253"	"0"	"253"	"0"	"c.253T>C"	"r.(?)"	"p.(Tyr85His)"	"4"
"0000840700"	"00003366"	"70"	"253"	"0"	"253"	"0"	"c.253T>C"	"r.(?)"	"p.(Tyr85His)"	"4"
"0000840701"	"00003366"	"70"	"26"	"0"	"26"	"0"	"c.26T>C"	"r.(?)"	"p.(Val9Ala)"	"2"
"0000840702"	"00003366"	"70"	"26"	"0"	"26"	"0"	"c.26T>C"	"r.(?)"	"p.(Val9Ala)"	"2"
"0000840703"	"00003366"	"70"	"253"	"0"	"253"	"0"	"c.253T>C"	"r.(?)"	"p.(Tyr85His)"	"4"
"0000840704"	"00003366"	"70"	"253"	"0"	"253"	"0"	"c.253T>C"	"r.(?)"	"p.(Tyr85His)"	"4"
"0000840705"	"00003366"	"70"	"253"	"0"	"253"	"0"	"c.253T>C"	"r.(?)"	"p.(Tyr85His)"	"4"
"0000840706"	"00003366"	"70"	"936"	"0"	"936"	"0"	"c.936C>A"	"r.(?)"	"p.(Asp312Glu)"	"8"
"0000840707"	"00003366"	"70"	"936"	"0"	"936"	"0"	"c.936C>A"	"r.(?)"	"p.(Asp312Glu)"	"8"
"0000840708"	"00003366"	"70"	"275"	"0"	"275"	"0"	"c.275G>A"	"r.(?)"	"p.(Arg92His)"	"4"
"0000840709"	"00003366"	"70"	"275"	"0"	"275"	"0"	"c.275G>A"	"r.(?)"	"p.(Arg92His)"	"4"
"0000840710"	"00003366"	"70"	"244"	"0"	"244"	"0"	"c.244C>G"	"r.(?)"	"p.(Leu82Val)"	"3"
"0000840711"	"00003366"	"70"	"244"	"0"	"244"	"0"	"c.244C>G"	"r.(?)"	"p.(Leu82Val)"	"3"
"0000840712"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	"4"
"0000840713"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	"4"
"0000840722"	"00003366"	"70"	"256"	"0"	"256"	"0"	"c.256G>A"	"r.(?)"	"p.(Val86Met)"	"4"
"0000840723"	"00003366"	"70"	"256"	"0"	"256"	"0"	"c.256G>A"	"r.(?)"	"p.(Val86Met)"	"4"
"0000840724"	"00003366"	"70"	"256"	"0"	"256"	"0"	"c.256G>A"	"r.(?)"	"p.(Val86Met)"	"4"
"0000840729"	"00003366"	"70"	"72"	"0"	"72"	"0"	"c.72G>T"	"r.(?)"	"p.(Trp24Cys)"	""
"0000840730"	"00003366"	"70"	"72"	"0"	"72"	"0"	"c.72G>T"	"r.(?)"	"p.(Trp24Cys)"	""
"0000840731"	"00003366"	"70"	"72"	"0"	"72"	"0"	"c.72G>T"	"r.(?)"	"p.(Trp24Cys)"	""
"0000840732"	"00003366"	"70"	"72"	"0"	"72"	"0"	"c.72G>T"	"r.(?)"	"p.(Trp24Cys)"	""
"0000840733"	"00003366"	"70"	"72"	"0"	"72"	"0"	"c.72G>T"	"r.(?)"	"p.(Trp24Cys)"	""
"0000840734"	"00003366"	"70"	"72"	"0"	"72"	"0"	"c.72G>T"	"r.(?)"	"p.(Trp24Cys)"	""
"0000840735"	"00003366"	"70"	"72"	"0"	"72"	"0"	"c.72G>T"	"r.(?)"	"p.(Trp24Cys)"	""
"0000840736"	"00003366"	"70"	"877"	"0"	"877"	"0"	"c.877C>A"	"r.(?)"	"p.(Gln293Lys)"	""
"0000840737"	"00003366"	"70"	"877"	"0"	"877"	"0"	"c.877C>A"	"r.(?)"	"p.(Gln293Lys)"	""
"0000840738"	"00003366"	"70"	"877"	"0"	"877"	"0"	"c.877C>A"	"r.(?)"	"p.(Gln293Lys)"	""
"0000840739"	"00003366"	"70"	"877"	"0"	"877"	"0"	"c.877C>A"	"r.(?)"	"p.(Gln293Lys)"	""
"0000840777"	"00003366"	"70"	"662"	"0"	"662"	"0"	"c.662G>T"	"r.(?)"	"p.(Cys221Phe)"	"6"
"0000840778"	"00003366"	"70"	"662"	"0"	"662"	"0"	"c.662G>T"	"r.(?)"	"p.(Cys221Phe)"	"6"
"0000840779"	"00003366"	"70"	"662"	"0"	"662"	"0"	"c.662G>T"	"r.(?)"	"p.(Cys221Phe)"	"6"
"0000840780"	"00003366"	"70"	"662"	"0"	"662"	"0"	"c.662G>T"	"r.(?)"	"p.(Cys221Phe)"	"6"
"0000840781"	"00003366"	"70"	"929"	"0"	"929"	"0"	"c.929T>C"	"r.(?)"	"p.(Ile310Thr)"	"8"
"0000840782"	"00003366"	"70"	"929"	"0"	"929"	"0"	"c.929T>C"	"r.(?)"	"p.(Ile310Thr)"	"8"
"0000840783"	"00003366"	"70"	"929"	"0"	"929"	"0"	"c.929T>C"	"r.(?)"	"p.(Ile310Thr)"	"8"
"0000840784"	"00003366"	"70"	"295"	"0"	"295"	"0"	"c.295A>T"	"r.(?)"	"p.(Asn99Tyr)"	"4"
"0000840785"	"00003366"	"70"	"295"	"0"	"295"	"0"	"c.295A>T"	"r.(?)"	"p.(Asn99Tyr)"	"4"
"0000840786"	"00003366"	"70"	"295"	"0"	"295"	"0"	"c.295A>T"	"r.(?)"	"p.(Asn99Tyr)"	"4"
"0000840787"	"00003366"	"70"	"295"	"0"	"295"	"0"	"c.295A>T"	"r.(?)"	"p.(Asn99Tyr)"	"4"
"0000840788"	"00003366"	"70"	"662"	"0"	"662"	"0"	"c.662G>T"	"r.(?)"	"p.(Cys221Phe)"	"6"
"0000840789"	"00003366"	"70"	"662"	"0"	"662"	"0"	"c.662G>T"	"r.(?)"	"p.(Cys221Phe)"	"6"
"0000840790"	"00003366"	"70"	"662"	"0"	"662"	"0"	"c.662G>T"	"r.(?)"	"p.(Cys221Phe)"	"6"
"0000840791"	"00003366"	"70"	"662"	"0"	"662"	"0"	"c.662G>T"	"r.(?)"	"p.(Cys221Phe)"	"6"
"0000840792"	"00003366"	"70"	"662"	"0"	"662"	"0"	"c.662G>T"	"r.(?)"	"p.(Cys221Phe)"	"6"
"0000840793"	"00003366"	"70"	"662"	"0"	"662"	"0"	"c.662G>T"	"r.(?)"	"p.(Cys221Phe)"	"6"
"0000840794"	"00003366"	"70"	"662"	"0"	"662"	"0"	"c.662G>T"	"r.(?)"	"p.(Cys221Phe)"	"6"
"0000840795"	"00003366"	"70"	"662"	"0"	"662"	"0"	"c.662G>T"	"r.(?)"	"p.(Cys221Phe)"	"6"
"0000840796"	"00003366"	"70"	"662"	"0"	"662"	"0"	"c.662G>T"	"r.(?)"	"p.(Cys221Phe)"	"6"
"0000840797"	"00003366"	"70"	"226"	"0"	"226"	"0"	"c.226A>G"	"r.(?)"	"p.(Ile76Val)"	"3"
"0000840798"	"00003366"	"70"	"226"	"0"	"226"	"0"	"c.226A>G"	"r.(?)"	"p.(Ile76Val)"	"3"
"0000840799"	"00003366"	"70"	"226"	"0"	"226"	"0"	"c.226A>G"	"r.(?)"	"p.(Ile76Val)"	"3"
"0000840800"	"00003366"	"70"	"887"	"0"	"887"	"0"	"c.887A>G"	"r.(?)"	"p.(Asn296Ser)"	"8"
"0000840801"	"00003366"	"70"	"887"	"0"	"887"	"0"	"c.887A>G"	"r.(?)"	"p.(Asn296Ser)"	"8"
"0000840802"	"00003366"	"70"	"241"	"0"	"241"	"0"	"c.241G>A"	"r.(?)"	"p.(Val81Met)"	"3"
"0000840803"	"00003366"	"70"	"241"	"0"	"241"	"0"	"c.241G>A"	"r.(?)"	"p.(Val81Met)"	"3"
"0000840804"	"00003366"	"70"	"403"	"0"	"403"	"0"	"c.403G>A"	"r.(?)"	"p.(Gly135Ser)"	"4"
"0000840805"	"00003366"	"70"	"403"	"0"	"403"	"0"	"c.403G>A"	"r.(?)"	"p.(Gly135Ser)"	"4"
"0000840806"	"00003366"	"70"	"403"	"0"	"403"	"0"	"c.403G>A"	"r.(?)"	"p.(Gly135Ser)"	"4"
"0000840807"	"00003366"	"70"	"883"	"0"	"883"	"0"	"c.883A>G"	"r.(?)"	"p.(Ile295Val)"	"8"
"0000840808"	"00003366"	"70"	"883"	"0"	"883"	"0"	"c.883A>G"	"r.(?)"	"p.(Ile295Val)"	"8"
"0000840809"	"00003366"	"70"	"25"	"0"	"25"	"0"	"c.25G>A"	"r.(?)"	"p.(Val9Met)"	"2"
"0000840810"	"00003366"	"70"	"532"	"0"	"534"	"0"	"c.532_534del"	"r.(?)"	"p.(His178del)"	"5"
"0000840811"	"00003366"	"70"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	"6"
"0000840812"	"00003366"	"70"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	"6"
"0000840813"	"00003366"	"70"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	"6"
"0000840814"	"00003366"	"70"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	"6"
"0000840815"	"00003366"	"70"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	"6"
"0000840816"	"00003366"	"70"	"602"	"0"	"602"	"0"	"c.602T>C"	"r.(?)"	"p.(Ile201Thr)"	"5"
"0000840817"	"00003366"	"70"	"851"	"0"	"851"	"0"	"c.851A>G"	"r.(?)"	"p.(Tyr284Cys)"	"7"
"0000840889"	"00003366"	"70"	"102"	"0"	"102"	"0"	"c.102C>T"	"r.spl"	"p.(Gly34=)"	""
"0000840890"	"00003366"	"70"	"102"	"0"	"102"	"0"	"c.102C>T"	"r.spl"	"p.(Gly34=)"	""
"0000840891"	"00003366"	"70"	"572"	"0"	"572"	"0"	"c.572T>C"	"r.(?)"	"p.(Leu191Pro)"	""
"0000840892"	"00003366"	"70"	"1470"	"0"	"1471"	"0"	"c.1470_1471delCA"	"r.(?)"	"p.(His490Glnfs*24)"	""
"0000840904"	"00003366"	"70"	"274"	"0"	"274"	"0"	"c.274C>T"	"r.(?)"	"p.(Arg92Cys)"	"4"
"0000840905"	"00003366"	"70"	"274"	"0"	"274"	"0"	"c.274C>T"	"r.(?)"	"p.(Arg92Cys)"	"4"
"0000840906"	"00003366"	"70"	"29"	"0"	"29"	"0"	"c.29C>T"	"r.(?)"	"p.(Ala10Val)"	"2"
"0000840907"	"00003366"	"70"	"29"	"0"	"29"	"0"	"c.29C>T"	"r.(?)"	"p.(Ala10Val)"	"2"
"0000840908"	"00003366"	"70"	"272"	"0"	"272"	"0"	"c.272C>T"	"r.(?)"	"p.(Thr91Ile)"	"4"
"0000840909"	"00003366"	"70"	"272"	"0"	"272"	"0"	"c.272C>T"	"r.(?)"	"p.(Thr91Ile)"	"4"
"0000840910"	"00003366"	"70"	"272"	"0"	"272"	"0"	"c.272C>T"	"r.(?)"	"p.(Thr91Ile)"	"4"
"0000840911"	"00003366"	"70"	"26"	"0"	"26"	"0"	"c.26T>C"	"r.(?)"	"p.(Val9Ala)"	"2"
"0000840912"	"00003366"	"70"	"26"	"0"	"26"	"0"	"c.26T>C"	"r.(?)"	"p.(Val9Ala)"	"2"
"0000840913"	"00003366"	"70"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	"2"
"0000840914"	"00003366"	"70"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	"2"
"0000840915"	"00003366"	"70"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	"2"
"0000840916"	"00003366"	"70"	"823"	"0"	"823"	"0"	"c.823G>A"	"r.(?)"	"p.(Val275Ile)"	"7"
"0000840917"	"00003366"	"70"	"689"	"0"	"689"	"0"	"c.689T>C"	"r.(?)"	"p.(Ile230Thr)"	"7"
"0000840918"	"00003366"	"70"	"689"	"0"	"689"	"0"	"c.689T>C"	"r.(?)"	"p.(Ile230Thr)"	"7"
"0000840934"	"00003366"	"70"	"454"	"0"	"454"	"0"	"c.454C>G"	"r.(?)"	"p.(Pro152Ala)"	""
"0000840935"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000840936"	"00003366"	"70"	"454"	"0"	"454"	"0"	"c.454C>G"	"r.(?)"	"p.(Pro152Ala)"	""
"0000840937"	"00003366"	"70"	"454"	"0"	"454"	"0"	"c.454C>G"	"r.(?)"	"p.(Pro152Ala)"	""
"0000840938"	"00003366"	"70"	"602"	"0"	"602"	"0"	"c.602T>C"	"r.(?)"	"p.(Ile201Thr)"	""
"0000840939"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000840940"	"00003366"	"70"	"454"	"0"	"454"	"0"	"c.454C>G"	"r.(?)"	"p.(Pro152Ala)"	""
"0000840941"	"00003366"	"70"	"868"	"-2"	"868"	"-2"	"c.868-2A>G"	"r.(?)"	"p.(?)"	""
"0000840942"	"00003366"	"70"	"821"	"0"	"821"	"0"	"c.821C>G"	"r.(?)"	"p.(Pro274Arg)"	""
"0000840943"	"00003366"	"70"	"868"	"-2"	"868"	"-2"	"c.868-2A>G"	"r.(?)"	"p.(?)"	""
"0000840944"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000840945"	"00003366"	"70"	"1470"	"0"	"1471"	"0"	"c.1470_1471del"	"r.(?)"	"p.(His490Glnfs*24)"	""
"0000840946"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000840947"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000840948"	"00003366"	"70"	"1470"	"0"	"1471"	"0"	"c.1470_1471del"	"r.(?)"	"p.(His490Glnfs*24)"	""
"0000840949"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000840950"	"00003366"	"70"	"621"	"0"	"632"	"0"	"c.621_632del"	"r.(?)"	"p.(Gln208_Leu211del)"	""
"0000840951"	"00003366"	"70"	"602"	"0"	"602"	"0"	"c.602T>C"	"r.(?)"	"p.(Ile201Thr)"	""
"0000840952"	"00003366"	"70"	"602"	"0"	"602"	"0"	"c.602T>C"	"r.(?)"	"p.(Ile201Thr)"	""
"0000840953"	"00003366"	"70"	"1100"	"1"	"1100"	"10"	"c.1100+1_1100+10del"	"r.spl"	"p.?"	"9i"
"0000840954"	"00003366"	"70"	"139"	"0"	"139"	"0"	"c.139C>T"	"r.(?)"	"p.(Arg47Cys)"	""
"0000840955"	"00003366"	"70"	"454"	"0"	"454"	"0"	"c.454C>G"	"r.(?)"	"p.(Pro152Ala)"	""
"0000840956"	"00003366"	"70"	"602"	"0"	"602"	"0"	"c.602T>C"	"r.(?)"	"p.(Ile201Thr)"	""
"0000840957"	"00003366"	"70"	"821"	"0"	"821"	"0"	"c.821C>G"	"r.(?)"	"p.(Pro274Arg)"	""
"0000840958"	"00003366"	"70"	"1470"	"0"	"1471"	"0"	"c.1470_1471del"	"r.(?)"	"p.(His490Glnfs*24)"	""
"0000840959"	"00003366"	"70"	"1470"	"0"	"1471"	"0"	"c.1470_1471del"	"r.(?)"	"p.(His490Glnfs*24)"	""
"0000840960"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000840961"	"00003366"	"70"	"867"	"4"	"867"	"4"	"c.867+4G>A"	"r.spl?"	"p.(?)"	""
"0000840962"	"00003366"	"70"	"848"	"0"	"850"	"0"	"c.848_850del"	"r.(?)"	"p.(Phe283del)"	""
"0000840967"	"00003366"	"70"	"15"	"0"	"15"	"0"	"c.15C>A"	"r.(?)"	"p.(Tyr5*)"	"2"
"0000840968"	"00003366"	"70"	"430"	"0"	"430"	"0"	"c.430A>G"	"r.(?)"	"p.(Ser144Gly)"	"4"
"0000840969"	"00003366"	"70"	"430"	"0"	"430"	"0"	"c.430A>G"	"r.(?)"	"p.(Ser144Gly)"	"4"
"0000840970"	"00003366"	"70"	"15"	"0"	"15"	"0"	"c.15C>A"	"r.(?)"	"p.(Tyr5*)"	"2"
"0000840971"	"00003366"	"70"	"430"	"0"	"430"	"0"	"c.430A>G"	"r.(?)"	"p.(Ser144Gly)"	"4"
"0000840972"	"00003366"	"70"	"430"	"0"	"430"	"0"	"c.430A>G"	"r.(?)"	"p.(Ser144Gly)"	"4"
"0000840973"	"00003366"	"70"	""	"0"	""	"0"	"430A>G"	"r.(?)"	"p.(Ser144Gly)"	"4"
"0000840999"	"00003366"	"70"	"421"	"0"	"421"	"0"	"c.421C>A"	"r.(?)"	"p.(Arg141Ser)"	""
"0000841000"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000841038"	"00003366"	"70"	"697"	"0"	"697"	"0"	"c.697C>G"	"r.(?)"	"p.(Pro233Ala)"	""
"0000841039"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000841040"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000841041"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000841049"	"00003366"	"70"	"598"	"0"	"598"	"0"	"c.598C>T"	"r.(?)"	"p.R200X"	""
"0000841056"	"00003366"	"70"	"1415"	"0"	"1415"	"0"	"c.1415delT"	"r.(?)"	"p.(Leu472Profs*10)"	"10"
"0000841057"	"00003366"	"70"	"1415"	"0"	"1415"	"0"	"c.1415delT"	"r.(?)"	"p.(Leu472Profs*10)"	"10"
"0000841107"	"00003366"	"70"	"253"	"0"	"253"	"0"	"c.253T>C"	"r.(?)"	"p.(Tyr85His)"	"10"
"0000841108"	"00003366"	"70"	"253"	"0"	"253"	"0"	"c.253T>C"	"r.(?)"	"p.(Tyr85His)"	"10"
"0000841109"	"00003366"	"70"	"253"	"0"	"253"	"0"	"c.253T>C"	"r.(?)"	"p.(Tyr85His)"	"10"
"0000841110"	"00003366"	"70"	"253"	"0"	"253"	"0"	"c.253T>C"	"r.(?)"	"p.(Tyr85His)"	"10"
"0000841112"	"00003366"	"70"	"388"	"0"	"388"	"0"	"c.388C>A"	"r.(?)"	"p.(Arg130Ser)"	""
"0000841113"	"00003366"	"70"	"388"	"0"	"388"	"0"	"c.388C>A"	"r.(?)"	"p.(Arg130Ser)"	""
"0000841114"	"00003366"	"70"	"936"	"0"	"936"	"0"	"c.936C>A"	"r.(?)"	"p.(Asp312Glu)"	""
"0000841366"	"00003366"	"70"	"572"	"0"	"572"	"0"	"c.572T>C"	"r.(?)"	"p.(Leu191Pro)"	""
"0000841367"	"00003366"	"70"	"277"	"0"	"278"	"0"	"c.(277_278delinsCC)"	"r.(?)"	"p.(Trp93Pro)"	""
"0000841368"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000841369"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000841370"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000841371"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000841372"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000841373"	"00003366"	"70"	"860"	"0"	"860"	"0"	"c.860G>A"	"r.(?)"	"p.(Trp287*)"	""
"0000841374"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000841382"	"00003366"	"70"	"475"	"0"	"475"	"0"	"c.475C>T"	"r.(?)"	"p.(Gln159*)"	"4"
"0000841383"	"00003366"	"70"	"1038"	"0"	"1038"	"0"	"c.1038dupC"	"r.(?)"	"p.(Tyr347Leufs*54)"	"9"
"0000841384"	"00003366"	"70"	"550"	"0"	"550"	"0"	"c.550C>T"	"r.(?)"	"p.(Pro184Ser)"	"5"
"0000841385"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	"5"
"0000841386"	"00003366"	"70"	"172"	"0"	"173"	"0"	"c.172_173dupCA"	"r.(?)"	"p.(Gln58Hisfs*4)"	"3"
"0000841387"	"00003366"	"70"	"172"	"0"	"173"	"0"	"c.172_173dupCA"	"r.(?)"	"p.(Gln58Hisfs*4)"	"3"
"0000841388"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	"4"
"0000841389"	"00003366"	"70"	"533"	"0"	"533"	"0"	"c.533A>C"	"r.(?)"	"p.(His178Pro)"	"5"
"0000841390"	"00003366"	"70"	"1066"	"0"	"1066"	"0"	"c.1066C>T"	"r.(?)"	"p.(Arg356*)"	"9"
"0000841391"	"00003366"	"70"	"974"	"0"	"974"	"0"	"c.974T>C"	"r.(?)"	"p.(Met325Thr)"	"9"
"0000841392"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	"5"
"0000841393"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	"5"
"0000841413"	"00003366"	"70"	"914"	"0"	"914"	"0"	"c.914T>C"	"r.(?)"	"p.Phe305Ser"	""
"0000841414"	"00003366"	"70"	"914"	"0"	"914"	"0"	"c.914T>C"	"r.(?)"	"p.Phe305Ser"	""
"0000841415"	"00003366"	"70"	"914"	"0"	"914"	"0"	"c.914T>C"	"r.(?)"	"p.Phe305Ser"	""
"0000841416"	"00003366"	"70"	"914"	"0"	"914"	"0"	"c.914T>C"	"r.(?)"	"p.Phe305Ser"	""
"0000841451"	"00003366"	"70"	"934"	"0"	"934"	"0"	"c.934G>A"	"r.(?)"	"p.(Asp312Asn)"	""
"0000841452"	"00003366"	"70"	"536"	"0"	"538"	"0"	"c.536_538del"	"r.(?)"	"p.(Asn179del)"	""
"0000841453"	"00003366"	"70"	"139"	"0"	"139"	"0"	"c.139C>T"	"r.(?)"	"p.(Arg47Cys)"	""
"0000841454"	"00003366"	"70"	"139"	"0"	"139"	"0"	"c.139C>T"	"r.(?)"	"p.(Arg47Cys)"	""
"0000841455"	"00003366"	"70"	"301"	"0"	"301"	"0"	"c.301C>A"	"r.(?)"	"p.(Pro101Thr)"	""
"0000841456"	"00003366"	"70"	"1669"	"0"	"1669"	"0"	"c.1669del"	"r.(?)"	"p.(Glu557Asnfs*52)"	""
"0000841457"	"00003366"	"70"	"638"	"0"	"638"	"0"	"c.638A>G"	"r.(?)"	"p.(Glu213Gly)"	""
"0000841602"	"00003366"	"70"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	"6"
"0000841604"	"00003366"	"70"	"905"	"0"	"905"	"0"	"c.905A>C"	"r.(?)"	"p.(Asp302Ala)"	""
"0000841605"	"00003366"	"70"	"905"	"0"	"905"	"0"	"c.905A>C"	"r.(?)"	"p.(Asp302Ala)"	""
"0000841606"	"00003366"	"70"	"905"	"0"	"905"	"0"	"c.905A>C"	"r.(?)"	"p.(Asp302Ala)"	""
"0000841607"	"00003366"	"70"	"679"	"0"	"679"	"0"	"c.679T>A"	"r.(?)"	"p.(Tyr227Asn)"	""
"0000841608"	"00003366"	"70"	"679"	"0"	"679"	"0"	"c.679T>A"	"r.(?)"	"p.(Tyr227Asn)"	""
"0000841609"	"00003366"	"70"	"679"	"0"	"679"	"0"	"c.679T>A"	"r.(?)"	"p.(Tyr227Asn)"	""
"0000841610"	"00003366"	"70"	"910"	"0"	"912"	"0"	"c.910_912del"	"r.(?)"	"p.(Asp304del)"	""
"0000841611"	"00003366"	"70"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	""
"0000841612"	"00003366"	"70"	"947"	"0"	"947"	"0"	"c.947A>C"	"r.(?)"	"p.(Gln316Pro)"	""
"0000841613"	"00003366"	"70"	"898"	"0"	"898"	"0"	"c.898G>A"	"r.(?)"	"p.(Glu300Lys)"	""
"0000841614"	"00003366"	"70"	"884"	"0"	"886"	"0"	"c.884_886del"	"r.(?)"	"p.(Ile295del)"	""
"0000841615"	"00003366"	"70"	"89"	"0"	"89"	"0"	"c.89A>G"	"r.(?)"	"p.(Lys30Arg)"	""
"0000841616"	"00003366"	"70"	"722"	"0"	"722"	"0"	"c.722C>A"	"r.(?)"	"p.(Thr241Asn)"	""
"0000841617"	"00003366"	"70"	"920"	"0"	"920"	"0"	"c.920C>T"	"r.(?)"	"p.(Thr307Ile)"	""
"0000841618"	"00003366"	"70"	"399"	"0"	"399"	"0"	"c.399C>G"	"r.(?)"	"p.(Asn133Lys)"	""
"0000841620"	"00003366"	"70"	"521"	"0"	"522"	"0"	"c.521_522del"	"r.(?)"	"p.(Leu174Glnfs*57)"	""
"0000841621"	"00003366"	"70"	"1100"	"1"	"1100"	"1"	"c.1100+1G>A"	"r.spl"	"p.?"	""
"0000841623"	"00003366"	"70"	"122"	"0"	"122"	"0"	"c.122T>C"	"r.(?)"	"p.(Leu41Pro)"	""
"0000841624"	"00003366"	"70"	"122"	"0"	"122"	"0"	"c.122T>C"	"r.(?)"	"p.(Leu41Pro)"	""
"0000841625"	"00003366"	"70"	"122"	"0"	"122"	"0"	"c.122T>C"	"r.(?)"	"p.(Leu41Pro)"	""
"0000841626"	"00003366"	"70"	"602"	"0"	"602"	"0"	"c.602T>C"	"r.(?)"	"p.(Ile201Thr)"	""
"0000841627"	"00003366"	"70"	"602"	"0"	"602"	"0"	"c.602T>C"	"r.(?)"	"p.(Ile201Thr)"	""
"0000841628"	"00003366"	"70"	"602"	"0"	"602"	"0"	"c.602T>C"	"r.(?)"	"p.(Ile201Thr)"	""
"0000841629"	"00003366"	"70"	"536"	"0"	"538"	"0"	"c.536_538del"	"r.(?)"	"p.(Asn179del)"	""
"0000841630"	"00003366"	"70"	"253"	"0"	"253"	"0"	"c.253T>C"	"r.(?)"	"p.(Tyr85His)"	"4"
"0000841631"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	"7"
"0000841632"	"00003366"	"70"	"275"	"0"	"275"	"0"	"c.275G>A"	"r.(?)"	"p.(Arg92His)"	"4"
"0000841633"	"00003366"	"70"	"904"	"0"	"904"	"0"	"c.904G>A"	"r.(?)"	"p.(Asp302Asn)"	"8"
"0000841634"	"00003366"	"70"	"904"	"0"	"904"	"0"	"c.904G>A"	"r.(?)"	"p.(Asp302Asn)"	"8"
"0000841635"	"00003366"	"70"	"936"	"0"	"936"	"0"	"c.936C>A"	"r.(?)"	"p.(Asp312Glu)"	"8"
"0000841636"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"6"
"0000841637"	"00003366"	"70"	"904"	"0"	"904"	"0"	"c.904G>A"	"r.(?)"	"p.(Asp302Asn)"	"8"
"0000841638"	"00003366"	"70"	"904"	"0"	"904"	"0"	"c.904G>A"	"r.(?)"	"p.(Asp302Asn)"	"8"
"0000841639"	"00003366"	"70"	"904"	"0"	"904"	"0"	"c.904G>A"	"r.(?)"	"p.(Asp302Asn)"	"8"
"0000841640"	"00003366"	"70"	"887"	"0"	"887"	"0"	"c.887A>G"	"r.(?)"	"p.(Asn296Ser)"	"8"
"0000841641"	"00003366"	"70"	"887"	"0"	"887"	"0"	"c.887A>G"	"r.(?)"	"p.(Asn296Ser)"	"8"
"0000841642"	"00003366"	"70"	"244"	"0"	"244"	"0"	"c.244C>G"	"r.(?)"	"p.(Leu82Val)"	"3"
"0000841643"	"00003366"	"70"	"905"	"0"	"905"	"0"	"c.905A>C"	"r.(?)"	"p.(Asp302Ala)"	"8"
"0000841644"	"00003366"	"70"	"58"	"0"	"58"	"0"	"c.58C>G"	"r.(?)"	"p.(Leu20Val)"	"2"
"0000841645"	"00003366"	"70"	"287"	"0"	"287"	"0"	"c.287A>G"	"r.(?)"	"p.(Gln96Arg)"	"4"
"0000841646"	"00003366"	"70"	"287"	"0"	"287"	"0"	"c.287A>G"	"r.(?)"	"p.(Gln96Arg)"	"4"
"0000841647"	"00003366"	"70"	"295"	"0"	"295"	"0"	"c.295A>C"	"r.(?)"	"p.(Asn99His)"	"4"
"0000841672"	"00003366"	"70"	"20"	"0"	"20"	"0"	"c.20G>A"	"r.(?)"	"p.(Ser7Asn)"	""
"0000841673"	"00003366"	"70"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	""
"0000841674"	"00003366"	"70"	"20"	"0"	"20"	"0"	"c.20G>A"	"r.(?)"	"p.(Ser7Asn)"	""
"0000841675"	"00003366"	"70"	"4"	"0"	"4"	"0"	"c.4A>G"	"r.(?)"	"p.(Thr2Ala)"	""
"0000841676"	"00003366"	"70"	"4"	"0"	"4"	"0"	"c.4A>G"	"r.(?)"	"p.(Thr2Ala)"	""
"0000841677"	"00003366"	"70"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	""
"0000841678"	"00003366"	"70"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	""
"0000841679"	"00003366"	"70"	"241"	"0"	"241"	"0"	"c.241G>A"	"r.(?)"	"p.(Val81Met)"	""
"0000841680"	"00003366"	"70"	"241"	"0"	"241"	"0"	"c.241G>A"	"r.(?)"	"p.(Val81Met)"	""
"0000841681"	"00003366"	"70"	"724"	"0"	"724"	"0"	"c.724G>A"	"r.(?)"	"p.(Val242Met)"	""
"0000841682"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000841683"	"00003366"	"70"	"1037"	"0"	"1037"	"0"	"c.1037C>A"	"r.(?)"	"p.(Pro346His)"	""
"0000841684"	"00003366"	"70"	"665"	"0"	"665"	"0"	"c.665G>A"	"r.(?)"	"p.(Gly222Glu)"	""
"0000841685"	"00003366"	"70"	"918"	"0"	"918"	"0"	"c.918G>C"	"r.(?)"	"p.(Glu306Asp)"	""
"0000841686"	"00003366"	"70"	"910"	"0"	"912"	"0"	"c.910_912delGAT"	"r.(?)"	"p.(Asp304del)"	""
"0000841687"	"00003366"	"70"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	""
"0000841688"	"00003366"	"70"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	""
"0000841689"	"00003366"	"70"	"240"	"0"	"240"	"0"	"c.240C>A"	"r.(?)"	"p.(Phe80Leu)"	""
"0000841690"	"00003366"	"70"	"240"	"0"	"240"	"0"	"c.240C>A"	"r.(?)"	"p.(Phe80Leu)"	""
"0000841691"	"00003366"	"70"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	""
"0000841693"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000841694"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000841695"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000841696"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000841697"	"00003366"	"70"	"974"	"0"	"974"	"0"	"c.974T>C"	"r.(?)"	"p.(Met325Thr)"	""
"0000841698"	"00003366"	"70"	"974"	"0"	"974"	"0"	"c.974T>C"	"r.(?)"	"p.(Met325Thr)"	""
"0000841699"	"00003366"	"70"	"974"	"0"	"974"	"0"	"c.974T>C"	"r.(?)"	"p.(Met325Thr)"	""
"0000841700"	"00003366"	"70"	"974"	"0"	"974"	"0"	"c.974T>C"	"r.(?)"	"p.(Met325Thr)"	""
"0000841799"	"00003366"	"70"	"779"	"0"	"779"	"0"	"c.779del"	"r.(?)"	"p.(Pro260Glnfs*29)"	""
"0000841800"	"00003366"	"70"	"779"	"0"	"779"	"0"	"c.779delC"	"r.(?)"	"p.(Pro260Glnfs*29)"	""
"0000841801"	"00003366"	"70"	"880"	"0"	"880"	"0"	"c.880C>T"	"r.(?)"	"p.(Leu294Phe)"	""
"0000841802"	"00003366"	"70"	"1120"	"0"	"1120"	"0"	"c.1120dupG"	"r.(?)"	"p.(Glu374Glyfs*27)"	""
"0000841803"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>G"	"r.(?)"	"p.(Arg218Gly)"	"p.Arg218Gly"
"0000841804"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>G"	"r.(?)"	"p.(Arg218Gly)"	"p.Arg218Gly"
"0000841805"	"00003366"	"70"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	"p.Arg25Trp"
"0000841806"	"00003366"	"70"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	"p.Arg25Trp"
"0000841807"	"00003366"	"70"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	"p.Arg25Trp"
"0000841808"	"00003366"	"70"	"893"	"0"	"893"	"0"	"c.893T>C"	"r.(?)"	"p.(Phe298Ser)"	"p.Phe298Ser"
"0000841809"	"00003366"	"70"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	"p.Arg25Trp"
"0000841810"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"p.Arg218Cys"
"0000841811"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"p.Arg218Cys"
"0000841812"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"p.Arg218Cys"
"0000841813"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>G"	"r.(?)"	"p.(Arg218Gly)"	"p.Arg218Gly"
"0000841814"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>G"	"r.(?)"	"p.(Arg218Gly)"	"p.Arg218Gly"
"0000841815"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>G"	"r.(?)"	"p.(Arg218Gly)"	"p.Arg218Gly"
"0000841816"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>G"	"r.(?)"	"p.(Arg218Gly)"	"p.Arg218Gly"
"0000841817"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"p.Arg218Cys"
"0000841818"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"p.Arg218Cys"
"0000841819"	"00003366"	"70"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	"p.Arg25Trp"
"0000841820"	"00003366"	"70"	"893"	"0"	"893"	"0"	"c.893T>C"	"r.(?)"	"p.(Phe298Ser)"	"p.Phe298Ser"
"0000841821"	"00003366"	"70"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	"p.Arg25Trp"
"0000841822"	"00003366"	"70"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	"p.Arg25Trp"
"0000841823"	"00003366"	"70"	"217"	"0"	"217"	"0"	"c.217A>C"	"r.(?)"	"p.(Ile73Leu)"	"p.Ile73Leu"
"0000841824"	"00003366"	"70"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	"p.Arg25Trp"
"0000841825"	"00003366"	"70"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	"p.Arg25Trp"
"0000841826"	"00003366"	"70"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	"p.Arg25Trp"
"0000841827"	"00003366"	"70"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	"p.Arg25Trp"
"0000841828"	"00003366"	"70"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	"p.Arg25Trp"
"0000841829"	"00003366"	"70"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	"p.Arg25Trp"
"0000841830"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"p.Arg218Cys"
"0000841831"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"p.Arg218Cys"
"0000841832"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"p.Arg218Cys"
"0000841833"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"p.Arg218Cys"
"0000841834"	"00003366"	"70"	"883"	"0"	"885"	"0"	"c.883_885del"	"r.(?)"	"p.(Ile295del)"	"p.Ile295del"
"0000841835"	"00003366"	"70"	"911"	"0"	"911"	"0"	"c.911A>G"	"r.(?)"	"p.(Asp304Gly)"	"p.Asp304Gly"
"0000841836"	"00003366"	"70"	"911"	"0"	"911"	"0"	"c.911A>G"	"r.(?)"	"p.(Asp304Gly)"	"p.Asp304Gly"
"0000841837"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	"p.Ala243Val"
"0000841838"	"00003366"	"70"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	"p.Arg25Trp"
"0000841839"	"00003366"	"70"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	"p.Arg25Trp"
"0000841840"	"00003366"	"70"	"239"	"0"	"239"	"0"	"c.239T>G"	"r.(?)"	"p.(Phe80Cys)"	"p.Phe80Cys"
"0000841841"	"00003366"	"70"	"907"	"0"	"907"	"0"	"c.907G>A"	"r.(?)"	"p.(Asp303Asn)"	"p.Asp303Asn"
"0000841844"	"00003366"	"70"	"1212"	"0"	"1212"	"0"	"c.1212delC"	"r.(?)"	"p.(Arg405Glyfs*77)"	"10"
"0000841845"	"00003366"	"70"	"1212"	"0"	"1212"	"0"	"c.1212delC"	"r.(?)"	"p.(Arg405Glyfs*77)"	"10"
"0000841846"	"00003366"	"70"	"637"	"0"	"637"	"0"	"c.637G>A"	"r.(?)"	"p.(Glu213Lys)"	"6"
"0000841847"	"00003366"	"70"	"637"	"0"	"637"	"0"	"c.637G>A"	"r.(?)"	"p.(Glu213Lys)"	"6"
"0000841905"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000841906"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000841907"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000841908"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000841909"	"00003366"	"70"	"74"	"0"	"74"	"0"	"c.74G>A"	"r.(?)"	"p.(Arg25Gln)"	""
"0000841910"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000841911"	"00003366"	"70"	"175"	"0"	"176"	"0"	"c.175_176dup"	"r.(?)"	"p.(Gln59Hisfs*3)"	""
"0000841912"	"00003366"	"70"	"-36"	"-1"	"152"	"1"	"c.(-37+1_-36-1)_(152+1_153-1)del"	"r.(?)"	"p.0?"	"1i_2i"
"0000841913"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000841914"	"00003366"	"70"	"-37"	"1"	"-37"	"1"	"c.-37+1G>T"	"r.(?)"	"p.?"	""
"0000841915"	"00003366"	"70"	"762"	"0"	"762"	"0"	"c.762delG"	"r.(?)"	"p.(Arg255Glyfs*4)"	""
"0000841916"	"00003366"	"70"	"934"	"0"	"934"	"0"	"c.934G>A"	"r.(?)"	"p.(Asp312Asn)"	""
"0000841917"	"00003366"	"70"	"752"	"0"	"752"	"0"	"c.752G>A"	"r.(?)"	"p.(Cys251Tyr)"	"7"
"0000841918"	"00003366"	"70"	"752"	"0"	"752"	"0"	"c.752G>A"	"r.(?)"	"p.(Cys251Tyr)"	"7"
"0000841919"	"00003366"	"70"	"752"	"0"	"752"	"0"	"c.752G>A"	"r.(?)"	"p.(Cys251Tyr)"	"7"
"0000841920"	"00003366"	"70"	"752"	"0"	"752"	"0"	"c.752G>A"	"r.(?)"	"p.(Cys251Tyr)"	"7"
"0000841921"	"00003366"	"70"	"752"	"0"	"752"	"0"	"c.752G>A"	"r.(?)"	"p.(Cys251Tyr)"	"7"
"0000842127"	"00003366"	"90"	"279"	"0"	"279"	"0"	"c.279G>C"	"r.(?)"	"p.(Trp93Cys)"	""
"0000842128"	"00003366"	"90"	"279"	"0"	"279"	"0"	"c.279G>C"	"r.(?)"	"p.(Trp93Cys)"	""
"0000842129"	"00003366"	"90"	"279"	"0"	"279"	"0"	"c.279G>C"	"r.(?)"	"p.(Trp93Cys)"	""
"0000842130"	"00003366"	"90"	"279"	"0"	"279"	"0"	"c.279G>C"	"r.(?)"	"p.(Trp93Cys)"	""
"0000842137"	"00003366"	"70"	"713"	"0"	"714"	"13"	"c.713_714+13del"	"r.(?)"	"p.(?)"	""
"0000842138"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000842139"	"00003366"	"70"	"713"	"0"	"714"	"13"	"c.713_714+13del"	"r.(?)"	"p.(?)"	""
"0000842140"	"00003366"	"70"	"713"	"0"	"714"	"13"	"c.713_714+13del"	"r.(?)"	"p.(?)"	""
"0000842141"	"00003366"	"70"	"1070"	"0"	"1070"	"0"	"c.1070C>T"	"r.(?)"	"p.(Ala357Val)"	""
"0000842142"	"00003366"	"70"	"1070"	"0"	"1070"	"0"	"c.1070C>T"	"r.(?)"	"p.(Ala357Val)"	""
"0000842143"	"00003366"	"70"	"1070"	"0"	"1070"	"0"	"c.1070C>T"	"r.(?)"	"p.(Ala357Val)"	""
"0000842144"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000842147"	"00003366"	"70"	"879"	"0"	"879"	"0"	"c.879G>C"	"r.(?)"	"p.(Gln293His)"	""
"0000842148"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	""
"0000842149"	"00003366"	"70"	"11"	"0"	"11"	"0"	"c.11C>T"	"r.(?)"	"p.(Thr4Ile)"	""
"0000842150"	"00003366"	"70"	"11"	"0"	"11"	"0"	"c.11C>T"	"r.(?)"	"p.(Thr4Ile)"	""
"0000842151"	"00003366"	"70"	"902"	"0"	"902"	"0"	"c.902A>G"	"r.(?)"	"p.(Asp301Gly)"	""
"0000842152"	"00003366"	"70"	"872"	"0"	"872"	"0"	"c.872C>T"	"r.(?)"	"p.(Ala291Val)"	""
"0000842153"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	""
"0000842154"	"00003366"	"70"	"488"	"0"	"488"	"0"	"c.488T>G"	"r.(?)"	"p.(Met163Arg)"	""
"0000842155"	"00003366"	"70"	"389"	"0"	"389"	"0"	"c.389G>T"	"r.(?)"	"p.(Arg130Leu)"	""
"0000842156"	"00003366"	"70"	"519"	"0"	"519"	"0"	"c.519del"	"r.(?)"	"p.(Lys173Asnfs*2)"	""
"0000842157"	"00003366"	"70"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255Trp)"	""
"0000842158"	"00003366"	"70"	"38"	"0"	"38"	"0"	"c.38G>A"	"r.(?)"	"p.(Arg13His)"	""
"0000842159"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000842160"	"00003366"	"70"	"860"	"0"	"860"	"0"	"c.860G>A"	"r.(?)"	"p.(Trp287*)"	""
"0000842161"	"00003366"	"70"	"97"	"0"	"97"	"0"	"c.97T>C"	"r.(?)"	"p.(Tyr33His)"	""
"0000842162"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000842163"	"00003366"	"70"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255Trp)"	""
"0000842170"	"00003366"	"70"	"663"	"0"	"663"	"0"	"c.663T>G"	"r.(?)"	"p.(Cys221Trp)"	""
"0000842171"	"00003366"	"70"	"887"	"0"	"887"	"0"	"c.887A>G"	"r.(?)"	"p.(Asn296Ser)"	""
"0000842172"	"00003366"	"70"	"887"	"0"	"887"	"0"	"c.887A>G"	"r.(?)"	"p.(Asn296Ser)"	""
"0000842173"	"00003366"	"70"	"905"	"0"	"905"	"0"	"c.905A>C"	"r.(?)"	"p.(Asp302Ala)"	""
"0000842174"	"00003366"	"70"	"727"	"0"	"727"	"0"	"c.727G>A"	"r.(?)"	"p.(Ala243Thr)"	""
"0000842175"	"00003366"	"70"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	""
"0000842176"	"00003366"	"70"	"28"	"0"	"28"	"0"	"c.28G>A"	"r.(?)"	"p.(Ala10Thr)"	""
"0000842177"	"00003366"	"70"	"727"	"0"	"727"	"0"	"c.727G>A"	"r.(?)"	"p.(Ala243Thr)"	""
"0000842178"	"00003366"	"70"	"727"	"0"	"727"	"0"	"c.727G>A"	"r.(?)"	"p.(Ala243Thr)"	""
"0000842179"	"00003366"	"70"	"727"	"0"	"727"	"0"	"c.727G>A"	"r.(?)"	"p.(Ala243Thr)"	""
"0000842180"	"00003366"	"70"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	""
"0000842181"	"00003366"	"70"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	""
"0000842182"	"00003366"	"70"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	""
"0000842183"	"00003366"	"70"	"701"	"0"	"701"	"0"	"c.701T>C"	"r.(?)"	"p.(Leu234Pro)"	""
"0000842184"	"00003366"	"70"	"28"	"0"	"28"	"0"	"c.28G>A"	"r.(?)"	"p.(Ala10Thr)"	"2"
"0000842185"	"00003366"	"70"	"28"	"0"	"28"	"0"	"c.28G>A"	"r.(?)"	"p.(Ala10Thr)"	"2"
"0000842186"	"00003366"	"70"	"29"	"0"	"29"	"0"	"c.29C>T"	"r.(?)"	"p.(Ala10Val)"	"2"
"0000842187"	"00003366"	"70"	"29"	"0"	"29"	"0"	"c.29C>T"	"r.(?)"	"p.(Ala10Val)"	"2"
"0000842188"	"00003366"	"70"	"272"	"0"	"272"	"0"	"c.272C>T"	"r.(?)"	"p.(Thr91Ile)"	"4"
"0000842189"	"00003366"	"70"	"272"	"0"	"272"	"0"	"c.272C>T"	"r.(?)"	"p.(Thr91Ile)"	"4"
"0000842190"	"00003366"	"70"	"272"	"0"	"272"	"0"	"c.272C>T"	"r.(?)"	"p.(Thr91Ile)"	"4"
"0000842191"	"00003366"	"70"	"26"	"0"	"26"	"0"	"c.26T>C"	"r.(?)"	"p.(Val9Ala)"	"2"
"0000842192"	"00003366"	"70"	"26"	"0"	"26"	"0"	"c.26T>C"	"r.(?)"	"p.(Val9Ala)"	"2"
"0000842193"	"00003366"	"70"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	"2"
"0000842194"	"00003366"	"70"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	"2"
"0000842195"	"00003366"	"70"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	"2"
"0000842196"	"00003366"	"70"	"274"	"0"	"274"	"0"	"c.274C>T"	"r.(?)"	"p.(Arg92Cys)"	"4"
"0000842197"	"00003366"	"70"	"274"	"0"	"274"	"0"	"c.274C>T"	"r.(?)"	"p.(Arg92Cys)"	"4"
"0000842198"	"00003366"	"70"	"274"	"0"	"274"	"0"	"c.274C>T"	"r.(?)"	"p.(Arg92Cys)"	"4"
"0000842199"	"00003366"	"70"	"274"	"0"	"274"	"0"	"c.274C>T"	"r.(?)"	"p.(Arg92Cys)"	"4"
"0000842200"	"00003366"	"70"	"689"	"0"	"689"	"0"	"c.689T>C"	"r.(?)"	"p.(Ile230Thr)"	"7"
"0000842201"	"00003366"	"70"	"689"	"0"	"689"	"0"	"c.689T>C"	"r.(?)"	"p.(Ile230Thr)"	"7"
"0000842202"	"00003366"	"70"	"689"	"0"	"689"	"0"	"c.689T>C"	"r.(?)"	"p.(Ile230Thr)"	"7"
"0000842203"	"00003366"	"70"	"10"	"0"	"10"	"0"	"c.10A>G"	"r.(?)"	"p.(Thr4Ala)"	"2"
"0000842204"	"00003366"	"70"	"10"	"0"	"10"	"0"	"c.10A>G"	"r.(?)"	"p.(Thr4Ala)"	"2"
"0000842205"	"00003366"	"70"	"636"	"1"	"636"	"1"	"c.636+1G>A"	"r.(?)"	"p.(?)"	""
"0000842206"	"00003366"	"70"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	""
"0000842207"	"00003366"	"70"	"28"	"0"	"28"	"0"	"c.28G>A"	"r.(?)"	"p.(Ala10Thr)"	""
"0000842208"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>G"	"r.(?)"	"p.(Arg218Gly)"	""
"0000842209"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>G"	"r.(?)"	"p.(Arg218Gly)"	""
"0000842210"	"00003366"	"70"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	""
"0000842211"	"00003366"	"70"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	""
"0000842213"	"00003366"	"70"	"400"	"0"	"400"	"0"	"c.400C>G"	"r.(?)"	"p.(Leu134Val)"	""
"0000842214"	"00003366"	"70"	"563"	"0"	"563"	"0"	"c.563T>C"	"r.(?)"	"p.(Phe188Ser)"	""
"0000842233"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>A"	"r.(?)"	"p.(Ala243Glu)"	"7"
"0000842234"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>A"	"r.(?)"	"p.(Ala243Glu)"	"7"
"0000842235"	"00003366"	"70"	"847"	"0"	"849"	"0"	"c.847_849delTTC"	"r.(?)"	"p.(Phe283del)"	""
"0000842236"	"00003366"	"70"	"821"	"0"	"821"	"0"	"c.821C>G"	"r.(?)"	"p.(Pro274Arg)"	""
"0000842237"	"00003366"	"70"	"-37"	"5"	"-37"	"5"	"c.-37+5G>A"	"r.(?)"	"p.0?"	""
"0000842238"	"00003366"	"70"	"598"	"0"	"598"	"0"	"c.598C>T"	"r.(?)"	"p.(Arg200*)"	"7"
"0000842239"	"00003366"	"70"	"598"	"0"	"598"	"0"	"c.598C>T"	"r.(?)"	"p.(Arg200*)"	"7"
"0000842276"	"00003366"	"70"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	""
"0000842277"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	""
"0000842278"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	""
"0000842279"	"00003366"	"70"	"910"	"0"	"912"	"0"	"c.910_912del"	"r.(?)"	"p.(Asp304del)"	"7"
"0000842280"	"00003366"	"70"	"685"	"0"	"685"	"0"	"c.685T>G"	"r.(?)"	"p.(Trp229Gly)"	"5"
"0000842281"	"00003366"	"70"	"8"	"0"	"8"	"0"	"c.8T>A"	"r.(?)"	"p.(Ile3Asn)"	""
"0000842282"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000842283"	"00003366"	"70"	"1100"	"1"	"1100"	"10"	"c.1100+1_1100+10del"	"r.(?)"	"p.(?)"	""
"0000842284"	"00003366"	"70"	"500"	"0"	"500"	"0"	"c.500A>G"	"r.(?)"	"p.Tyr167Cys"	""
"0000842285"	"00003366"	"70"	"614"	"0"	"614"	"0"	"c.614T>C"	"r.(?)"	"p.(Ile205Thr)"	""
"0000842286"	"00003366"	"70"	"614"	"0"	"614"	"0"	"c.614T>C"	"r.(?)"	"p.(Ile205Thr)"	""
"0000842287"	"00003366"	"70"	"614"	"0"	"614"	"0"	"c.614T>C"	"r.(?)"	"p.(Ile205Thr)"	""
"0000842288"	"00003366"	"70"	"119"	"0"	"119"	"0"	"c.119T>C"	"r.(?)"	"p.(Leu40Pro)"	""
"0000842289"	"00003366"	"70"	"119"	"0"	"119"	"0"	"c.119T>C"	"r.(?)"	"p.(Leu40Pro)"	""
"0000842290"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000842291"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000842292"	"00003366"	"70"	"256"	"0"	"256"	"0"	"c.256G>A"	"r.(?)"	"p.(Val86Met)"	""
"0000842293"	"00003366"	"70"	"256"	"0"	"256"	"0"	"c.256G>A"	"r.(?)"	"p.(Val86Met)"	""
"0000842294"	"00003366"	"70"	"256"	"0"	"256"	"0"	"c.256G>A"	"r.(?)"	"p.(Val86Met)"	""
"0000842314"	"00003366"	"70"	"911"	"0"	"911"	"0"	"c.911A>G"	"r.(?)"	"p.(Asp304Gly)"	""
"0000842315"	"00003366"	"70"	"911"	"0"	"911"	"0"	"c.911A>G"	"r.(?)"	"p.(Asp304Gly)"	""
"0000842316"	"00003366"	"70"	"911"	"0"	"911"	"0"	"c.911A>G"	"r.(?)"	"p.(Asp304Gly)"	""
"0000842317"	"00003366"	"70"	"911"	"0"	"911"	"0"	"c.911A>G"	"r.(?)"	"p.(Asp304Gly)"	""
"0000842318"	"00003366"	"70"	"911"	"0"	"911"	"0"	"c.911A>G"	"r.(?)"	"p.(Asp304Gly)"	""
"0000842357"	"00003366"	"70"	"248"	"0"	"248"	"0"	"c.248G>A"	"r.(?)"	"p.(Gly83Asp)"	"4"
"0000842358"	"00003366"	"70"	"920"	"0"	"920"	"0"	"c.920C>A"	"r.(?)"	"p.(Thr307Asn)"	""
"0000842359"	"00003366"	"70"	"920"	"0"	"920"	"0"	"c.920C>A"	"r.(?)"	"p.(Thr307Asn)"	""
"0000842360"	"00003366"	"70"	"874"	"0"	"874"	"0"	"c.874G>A"	"r.(?)"	"p.(Glu292Lys)"	""
"0000842361"	"00003366"	"70"	"874"	"0"	"874"	"0"	"c.874G>A"	"r.(?)"	"p.(Glu292Lys)"	""
"0000842362"	"00003366"	"70"	"47"	"0"	"47"	"0"	"c.47C>T"	"r.(?)"	"p.(Ser16Phe)"	""
"0000842363"	"00003366"	"70"	"47"	"0"	"47"	"0"	"c.47C>T"	"r.(?)"	"p.(Ser16Phe)"	""
"0000842364"	"00003366"	"70"	"140"	"0"	"140"	"0"	"c.140G>A"	"r.(?)"	"p.(Arg47His)"	""
"0000842365"	"00003366"	"70"	"431"	"0"	"431"	"0"	"c.431G>A"	"r.(?)"	"p.(Ser144Asn)"	""
"0000842366"	"00003366"	"70"	"898"	"0"	"898"	"0"	"c.898G>A"	"r.(?)"	"p.(Glu300Lys)"	""
"0000842367"	"00003366"	"70"	"717"	"0"	"717"	"0"	"c.717delG"	"r.(?)"	"p.(Val240*)"	"7"
"0000842368"	"00003366"	"70"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255Trp)"	"7"
"0000842411"	"00003366"	"70"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255Trp)"	""
"0000842412"	"00003366"	"70"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255Trp)"	""
"0000842413"	"00003366"	"70"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255Trp)"	""
"0000842414"	"00003366"	"70"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	""
"0000842415"	"00003366"	"70"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	""
"0000842416"	"00003366"	"70"	"102"	"0"	"102"	"0"	"c.102C>T"	"r.(?)"	"p.(Gly34=)"	""
"0000842417"	"00003366"	"70"	"478"	"0"	"478"	"0"	"c.478G>C"	"r.(?)"	"p.(Ala160Pro)"	""
"0000842418"	"00003366"	"70"	"908"	"0"	"908"	"0"	"c.908A>G"	"r.(?)"	"p.(Asp303Gly)"	""
"0000842419"	"00003366"	"70"	"948"	"1"	"948"	"1"	"c.948+1delG"	"r.(?)"	"p.?"	""
"0000842420"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000842421"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000842422"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000842423"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000842424"	"00003366"	"70"	"43"	"0"	"43"	"0"	"c.43G>C"	"r.(?)"	"p.(Gly15Arg)"	""
"0000842425"	"00003366"	"70"	"43"	"0"	"43"	"0"	"c.43G>C"	"r.(?)"	"p.(Gly15Arg)"	""
"0000842426"	"00003366"	"70"	"43"	"0"	"43"	"0"	"c.43G>C"	"r.(?)"	"p.(Gly15Arg)"	""
"0000842427"	"00003366"	"70"	"313"	"0"	"313"	"0"	"c.313C>G"	"r.(?)"	"p.(Arg105Gly)"	""
"0000842428"	"00003366"	"70"	"313"	"0"	"313"	"0"	"c.313C>G"	"r.(?)"	"p.(Arg105Gly)"	""
"0000842429"	"00003366"	"70"	"313"	"0"	"313"	"0"	"c.313C>G"	"r.(?)"	"p.(Arg105Gly)"	""
"0000842430"	"00003366"	"70"	"313"	"0"	"313"	"0"	"c.313C>G"	"r.(?)"	"p.(Arg105Gly)"	""
"0000842431"	"00003366"	"70"	"313"	"0"	"313"	"0"	"c.313C>G"	"r.(?)"	"p.(Arg105Gly)"	""
"0000842432"	"00003366"	"70"	"313"	"0"	"313"	"0"	"c.313C>G"	"r.(?)"	"p.(Arg105Gly)"	""
"0000842433"	"00003366"	"70"	"313"	"0"	"313"	"0"	"c.313C>G"	"r.(?)"	"p.(Arg105Gly)"	""
"0000842434"	"00003366"	"70"	"313"	"0"	"313"	"0"	"c.313C>G"	"r.(?)"	"p.(Arg105Gly)"	""
"0000842435"	"00003366"	"70"	"313"	"0"	"313"	"0"	"c.313C>G"	"r.(?)"	"p.(Arg105Gly)"	""
"0000842436"	"00003366"	"70"	"313"	"0"	"313"	"0"	"c.313C>G"	"r.(?)"	"p.(Arg105Gly)"	""
"0000842437"	"00003366"	"70"	"313"	"0"	"313"	"0"	"c.313C>G"	"r.(?)"	"p.(Arg105Gly)"	""
"0000842438"	"00003366"	"70"	"313"	"0"	"313"	"0"	"c.313C>G"	"r.(?)"	"p.(Arg105Gly)"	""
"0000842439"	"00003366"	"70"	"313"	"0"	"313"	"0"	"c.313C>G"	"r.(?)"	"p.(Arg105Gly)"	""
"0000842440"	"00003366"	"70"	"313"	"0"	"313"	"0"	"c.313C>G"	"r.(?)"	"p.(Arg105Gly)"	""
"0000842441"	"00003366"	"70"	"313"	"0"	"313"	"0"	"c.313C>G"	"r.(?)"	"p.(Arg105Gly)"	""
"0000842442"	"00003366"	"70"	"313"	"0"	"313"	"0"	"c.313C>G"	"r.(?)"	"p.(Arg105Gly)"	""
"0000842443"	"00003366"	"70"	"313"	"0"	"313"	"0"	"c.313C>G"	"r.(?)"	"p.(Arg105Gly)"	""
"0000842501"	"00003366"	"70"	"692"	"0"	"692"	"0"	"c.692G>C"	"r.(?)"	"p.(Ser231Thr)"	""
"0000842502"	"00003366"	"70"	"692"	"0"	"692"	"0"	"c.692G>C"	"r.(?)"	"p.(Ser231Thr)"	""
"0000842503"	"00003366"	"70"	"47"	"0"	"47"	"0"	"c.47C>T"	"r.(?)"	"p.(Ser16Phe)"	""
"0000842504"	"00003366"	"70"	"874"	"0"	"874"	"0"	"c.874G>A"	"r.(?)"	"p.(Glu292Lys)"	""
"0000842505"	"00003366"	"70"	"892"	"0"	"892"	"0"	"c.892T>G"	"r.(?)"	"p.(Phe298Val)"	""
"0000842506"	"00003366"	"70"	"400"	"0"	"400"	"0"	"c.400C>G"	"r.(?)"	"p.(Leu134Val)"	""
"0000842507"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000842509"	"00003366"	"70"	"680"	"0"	"680"	"0"	"c.680A>G"	"r.(?)"	"p.(Tyr227Cys)"	""
"0000842510"	"00003366"	"70"	"38"	"0"	"38"	"0"	"c.38G>A"	"r.(?)"	"p.(Arg13His)"	""
"0000842511"	"00003366"	"70"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255Trp)"	""
"0000842512"	"00003366"	"70"	"389"	"0"	"389"	"0"	"c.389G>T"	"r.(?)"	"p.(Arg130Leu)"	""
"0000842513"	"00003366"	"70"	"842"	"0"	"842"	"0"	"c.842T>C"	"r.(?)"	"p.(Phe281Ser)"	""
"0000842514"	"00003366"	"70"	"1070"	"0"	"1070"	"0"	"c.1070C>T"	"r.(?)"	"p.(Ala357Val)"	""
"0000842515"	"00003366"	"70"	"764"	"0"	"764"	"0"	"c.764G>A"	"r.(?)"	"p.(Arg255Gln)"	""
"0000842516"	"00003366"	"70"	"1066"	"0"	"1066"	"0"	"c.1066C>T"	"r.(?)"	"p.(Arg356*)"	""
"0000842517"	"00003366"	"70"	"764"	"0"	"764"	"0"	"c.764G>A"	"r.(?)"	"p.(Arg255Gln)"	""
"0000842518"	"00003366"	"70"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255Trp)"	""
"0000842519"	"00003366"	"70"	"488"	"0"	"488"	"0"	"c.488T>G"	"r.(?)"	"p.(Met163Arg)"	""
"0000842520"	"00003366"	"70"	"247"	"2"	"247"	"2"	"c.247+2T>G"	"r.spl"	"Splicing defect"	""
"0000842521"	"00003366"	"70"	"1550"	"0"	"1550"	"0"	"c.1550C>G"	"r.(?)"	"p.(Ser517*)"	""
"0000842522"	"00003366"	"70"	"830"	"0"	"830"	"0"	"c.830C>T"	"r.(?)"	"p.(Thr277Met)"	""
"0000842523"	"00003366"	"70"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255Trp)"	""
"0000842527"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	""
"0000842528"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	""
"0000842529"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	""
"0000842530"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	""
"0000842531"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	""
"0000842532"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	""
"0000842533"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	""
"0000842534"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	""
"0000842535"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	""
"0000842536"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	""
"0000842537"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	""
"0000842538"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	""
"0000842539"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	""
"0000842540"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	""
"0000842541"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	""
"0000842542"	"00003366"	"70"	"1066"	"0"	"1066"	"0"	"c.1066C>T"	"r.(?)"	"p.Arg356X"	""
"0000842543"	"00003366"	"70"	"602"	"0"	"602"	"0"	"c.602T>C"	"r.(?)"	"p.(Ile201Thr)"	""
"0000842544"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	""
"0000842545"	"00003366"	"70"	"892"	"0"	"892"	"0"	"c.892T>G"	"r.(?)"	"p.(Phe298Val)"	""
"0000842546"	"00003366"	"70"	"47"	"0"	"47"	"0"	"c.47C>T"	"r.(?)"	"p.(Ser16Phe)"	""
"0000842547"	"00003366"	"70"	"313"	"0"	"313"	"0"	"c.313C>G"	"r.(?)"	"p.Arg105Gly"	""
"0000842548"	"00003366"	"70"	"892"	"0"	"892"	"0"	"c.892T>G"	"r.(?)"	"p.(Phe298Val)"	""
"0000842551"	"00003366"	"70"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	""
"0000842552"	"00003366"	"70"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	""
"0000842553"	"00003366"	"70"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	""
"0000842554"	"00003366"	"70"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	""
"0000842564"	"00003366"	"70"	"219"	"0"	"219"	"0"	"c.219C>G"	"r.(?)"	"p.(Ile73Met)"	""
"0000842565"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	""
"0000842566"	"00003366"	"70"	"227"	"0"	"227"	"0"	"c.227T>C"	"r.(?)"	"p.(Ile76Thr)"	""
"0000842567"	"00003366"	"70"	"281"	"0"	"281"	"0"	"c.281G>T"	"r.(?)"	"p.(Trp94Leu)"	""
"0000842568"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	""
"0000842569"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	""
"0000842570"	"00003366"	"70"	"313"	"0"	"313"	"0"	"c.313C>G"	"r.(?)"	"p.(Arg105Gly)"	""
"0000842571"	"00003366"	"70"	"228"	"0"	"228"	"0"	"c.228C>G"	"r.(?)"	"p.(Ile76Met)"	""
"0000842572"	"00003366"	"70"	"278"	"0"	"278"	"0"	"c.278G>C"	"r.(?)"	"p.(Trp93Ser)"	""
"0000842573"	"00003366"	"70"	"17"	"0"	"17"	"0"	"c.17C>G"	"r.(?)"	"p.(Thr6Arg)"	""
"0000842574"	"00003366"	"70"	"289"	"0"	"289"	"0"	"c.289T>C"	"r.(?)"	"p.(Tyr97His)"	""
"0000842575"	"00003366"	"70"	"47"	"0"	"47"	"0"	"c.47C>T"	"r.(?)"	"p.(Ser16Phe)"	""
"0000842576"	"00003366"	"70"	"241"	"0"	"241"	"0"	"c.241G>A"	"r.(?)"	"p.(Val81Met)"	""
"0000842577"	"00003366"	"70"	"55"	"0"	"55"	"0"	"c.55C>T"	"r.(?)"	"p.(Arg19Cys)"	""
"0000842578"	"00003366"	"70"	"20"	"0"	"20"	"0"	"c.20G>A"	"r.(?)"	"p.(Ser7Asn)"	""
"0000842579"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000842580"	"00003366"	"70"	"38"	"0"	"38"	"0"	"c.38G>A"	"r.(?)"	"p.(Arg13His)"	""
"0000842581"	"00003366"	"70"	"326"	"0"	"326"	"0"	"c.326T>G"	"r.(?)"	"p.(Leu109Arg)"	""
"0000842582"	"00003366"	"70"	"140"	"0"	"140"	"0"	"c.140G>A"	"r.(?)"	"p.(Arg47His)"	""
"0000842583"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000842584"	"00003366"	"70"	"949"	"-1"	"949"	"-1"	"c.949-1G>A"	"r.spl"	"p.(?)"	""
"0000842585"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000842586"	"00003366"	"70"	"868"	"-2"	"868"	"-2"	"c.868-2A>G"	"r.(?)"	"p.(?)"	""
"0000842587"	"00003366"	"70"	"488"	"0"	"488"	"0"	"c.488T>G"	"r.(?)"	"p.(Met163Arg)"	""
"0000842588"	"00003366"	"70"	"130"	"0"	"130"	"0"	"c.130T>C"	"r.(?)"	"p.(Tyr44His)"	""
"0000842589"	"00003366"	"70"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	""
"0000842590"	"00003366"	"70"	"130"	"0"	"130"	"0"	"c.130T>C"	"r.(?)"	"p.(Tyr44His)"	""
"0000842591"	"00003366"	"70"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	""
"0000842592"	"00003366"	"70"	"220"	"0"	"220"	"0"	"c.220C>T"	"r.(?)"	"p.(Gln74*)"	""
"0000842593"	"00003366"	"70"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255Trp)"	""
"0000842594"	"00003366"	"70"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255Trp)"	""
"0000842595"	"00003366"	"70"	"353"	"0"	"362"	"0"	"c.353_362dup"	"r.(?)"	"p.(Leu123Alafs*112)"	""
"0000842596"	"00003366"	"70"	"103"	"0"	"103"	"0"	"c.103G>A"	"r.(?)"	"p.(Glu35Lys)"	""
"0000842597"	"00003366"	"70"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255Trp)"	""
"0000842598"	"00003366"	"70"	"119"	"0"	"119"	"0"	"c.119T>C"	"r.(?)"	"p.(Leu40Pro)"	""
"0000842599"	"00003366"	"70"	"295"	"0"	"295"	"0"	"c.295A>G"	"r.(?)"	"p.(Asn99Asp)"	""
"0000842600"	"00003366"	"70"	"830"	"0"	"830"	"0"	"c.830C>T"	"r.(?)"	"p.(Thr277Met)"	""
"0000842601"	"00003366"	"70"	"343"	"0"	"343"	"0"	"c.343G>T"	"r.(?)"	"p.(Glu115*)"	""
"0000842602"	"00003366"	"70"	"1064"	"0"	"1064"	"0"	"c.1064G>A"	"r.(?)"	"p.(Arg355His)"	""
"0000842603"	"00003366"	"70"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255Trp)"	""
"0000842604"	"00003366"	"70"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255Trp)"	""
"0000842605"	"00003366"	"70"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255Trp)"	""
"0000842606"	"00003366"	"70"	"887"	"0"	"887"	"0"	"c.887A>G"	"r.(?)"	"p.(Asn296Ser)"	""
"0000842607"	"00003366"	"70"	"763"	"0"	"763"	"0"	"c.763C>A"	"r.spl?"	"p.(Arg255=)"	""
"0000842608"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000842609"	"00003366"	"70"	"1782"	"0"	"1782"	"0"	"c.*24C>T"	"r.(?)"	"p.(?)"	""
"0000842610"	"00003366"	"70"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255Trp)"	""
"0000842611"	"00003366"	"70"	"860"	"0"	"860"	"0"	"c.860G>A"	"r.(?)"	"p.(Trp287*)"	""
"0000842612"	"00003366"	"70"	"292"	"0"	"292"	"0"	"c.292G>A"	"r.(?)"	"p.(Glu98Lys)"	""
"0000842613"	"00003366"	"30"	"1608"	"0"	"1608"	"0"	"c.1608T>C"	"r.(?)"	"p.(Thr536=)"	""
"0000842614"	"00003366"	"70"	"238"	"0"	"238"	"0"	"c.238T>A"	"r.(?)"	"p.(Phe80Ile)"	""
"0000842615"	"00003366"	"70"	"113"	"0"	"113"	"0"	"c.113T>G"	"r.(?)"	"p.(Ile38Ser)"	""
"0000842617"	"00003366"	"70"	"73"	"0"	"73"	"0"	"c.73C>T"	"r.(?)"	"p.(Arg25Trp)"	""
"0000842618"	"00003366"	"70"	"90"	"0"	"90"	"0"	"c.90G>C"	"r.(?)"	"p.(Lys30Asn)"	""
"0000842619"	"00003366"	"70"	"139"	"0"	"139"	"0"	"c.139C>T"	"r.(?)"	"p.(Arg47Cys)"	""
"0000842620"	"00003366"	"70"	"253"	"0"	"253"	"0"	"c.253T>C"	"r.(?)"	"p.(Tyr85His)"	""
"0000842621"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	""
"0000842625"	"00003366"	"70"	"903"	"0"	"903"	"0"	"c.903T>G"	"r.(?)"	"p.(Asp301Glu)"	""
"0000842626"	"00003366"	"70"	"1608"	"0"	"1608"	"0"	"c.1608T>C"	"r.(?)"	"p.(Thr536=)"	""
"0000842628"	"00003366"	"70"	"0"	"0"	"0"	"0"	"c.1265_*341{0}"	"r.?"	"p.(His422fs)"	"10_11_"
"0000842631"	"00003366"	"70"	"248"	"0"	"248"	"0"	"c.248G>A"	"r.(?)"	"p.(Gly83Asp)"	""
"0000842664"	"00003366"	"70"	"898"	"0"	"898"	"0"	"c.898G>A"	"r.(?)"	"p.(Glu300Lys)"	""
"0000842665"	"00003366"	"70"	"58"	"0"	"58"	"0"	"c.58C>G"	"r.(?)"	"p.(Leu20Val)"	""
"0000842666"	"00003366"	"70"	"920"	"0"	"920"	"0"	"c.920C>A"	"r.(?)"	"p.(Thr307Asn)"	""
"0000842667"	"00003366"	"70"	"920"	"0"	"920"	"0"	"c.920C>A"	"r.(?)"	"p.(Thr307Asn)"	""
"0000842668"	"00003366"	"70"	"884"	"0"	"884"	"0"	"c.884T>C"	"r.(?)"	"p.(Ile295Thr)"	""
"0000842669"	"00003366"	"70"	"224"	"0"	"224"	"0"	"c.224T>C"	"r.(?)"	"p.(Leu75Pro)"	""
"0000842670"	"00003366"	"70"	"224"	"0"	"224"	"0"	"c.224T>C"	"r.(?)"	"p.(Leu75Pro)"	""
"0000842671"	"00003366"	"70"	"224"	"0"	"224"	"0"	"c.224T>C"	"r.(?)"	"p.(Leu75Pro)"	""
"0000842672"	"00003366"	"70"	"224"	"0"	"224"	"0"	"c.224T>C"	"r.(?)"	"p.(Leu75Pro)"	""
"0000842673"	"00003366"	"70"	"224"	"0"	"224"	"0"	"c.224T>C"	"r.(?)"	"p.(Leu75Pro)"	""
"0000842674"	"00003366"	"70"	"5"	"0"	"5"	"0"	"c.5C>G"	"r.(?)"	"p.(Thr2Ser)"	""
"0000842675"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	""
"0000842676"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	""
"0000842677"	"00003366"	"70"	"241"	"0"	"241"	"0"	"c.241G>T"	"r.(?)"	"p.(Val81Leu)"	""
"0000842678"	"00003366"	"70"	"236"	"0"	"236"	"0"	"c.236C>A"	"r.(?)"	"p.(Ser79Tyr)"	""
"0000842679"	"00003366"	"70"	"345"	"0"	"346"	"0"	"c.345_346insGGCAAGGACG"	"r.(?)"	"p.(Glu119Glyfs*116)"	""
"0000842680"	"00003366"	"70"	"903"	"0"	"903"	"0"	"c.903T>G"	"r.(?)"	"p.(Asp301Glu)"	""
"0000842681"	"00003366"	"70"	"903"	"0"	"903"	"0"	"c.903T>G"	"r.(?)"	"p.(Asp301Glu)"	""
"0000842741"	"00003366"	"70"	"392"	"0"	"392"	"0"	"c.392A>G"	"r.(?)"	"p.(Tyr131Cys)"	""
"0000842742"	"00003366"	"70"	"392"	"0"	"392"	"0"	"c.392A>G"	"r.(?)"	"p.(Tyr131Cys)"	""
"0000842743"	"00003366"	"70"	"449"	"0"	"449"	"0"	"c.449G>C"	"r.(?)"	"p.(Arg150Pro)"	""
"0000842744"	"00003366"	"70"	"140"	"0"	"140"	"0"	"c.140G>A"	"r.(?)"	"p.(Arg47His)"	""
"0000842745"	"00003366"	"70"	"140"	"0"	"140"	"0"	"c.140G>A"	"r.(?)"	"p.(Arg47His)"	""
"0000842746"	"00003366"	"70"	"140"	"0"	"140"	"0"	"c.140G>A"	"r.(?)"	"p.(Arg47His)"	""
"0000842747"	"00003366"	"70"	"140"	"0"	"140"	"0"	"c.140G>A"	"r.(?)"	"p.(Arg47His)"	""
"0000842748"	"00003366"	"70"	"272"	"0"	"272"	"0"	"c.272C>T"	"r.(?)"	"p.(Thr91Ile)"	""
"0000842749"	"00003366"	"70"	"272"	"0"	"272"	"0"	"c.272C>T"	"r.(?)"	"p.(Thr91Ile)"	""
"0000842750"	"00003366"	"70"	"272"	"0"	"272"	"0"	"c.272C>T"	"r.(?)"	"p.(Thr91Ile)"	""
"0000842751"	"00003366"	"70"	"823"	"0"	"823"	"0"	"c.823G>A"	"r.(?)"	"p.(Val275Ile)"	""
"0000842752"	"00003366"	"70"	"823"	"0"	"823"	"0"	"c.823G>A"	"r.(?)"	"p.(Val275Ile)"	""
"0000842753"	"00003366"	"70"	"823"	"0"	"823"	"0"	"c.823G>A"	"r.(?)"	"p.(Val275Ile)"	""
"0000842754"	"00003366"	"70"	"823"	"0"	"823"	"0"	"c.823G>A"	"r.(?)"	"p.(Val275Ile)"	""
"0000842755"	"00003366"	"70"	"1712"	"0"	"1712"	"0"	"c.1712T>C"	"r.(?)"	"p.(Met571Thr)"	"10"
"0000842842"	"00003366"	"70"	"665"	"0"	"665"	"0"	"c.665G>T"	"r.(?)"	"p.(Gly222Val)"	"6"
"0000842843"	"00003366"	"70"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255Trp)"	"7"
"0000842844"	"00003366"	"70"	"424"	"0"	"424"	"0"	"c.424A>G"	"r.(?)"	"p.(Ser142Gly)"	"4"
"0000842845"	"00003366"	"70"	"903"	"0"	"903"	"0"	"c.903T>G"	"r.(?)"	"p.(Asp301Glu)"	"8"
"0000842846"	"00003366"	"70"	"436"	"0"	"436"	"0"	"c.436G>A"	"r.(?)"	"p.(Ala146Thr)"	"4"
"0000842847"	"00003366"	"70"	"427"	"0"	"427"	"0"	"c.427G>T"	"r.(?)"	"p.(Val143Phe)"	"4"
"0000842848"	"00003366"	"70"	"488"	"0"	"488"	"0"	"c.488T>G"	"r.(?)"	"p.(Met163Arg)"	"5"
"0000842849"	"00003366"	"70"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	"6"
"0000842850"	"00003366"	"70"	"274"	"0"	"274"	"0"	"c.274C>T"	"r.(?)"	"p.(Arg92Cys)"	"4"
"0000842851"	"00003366"	"70"	"427"	"0"	"427"	"0"	"c.427G>T"	"r.(?)"	"p.(Val143Phe)"	"4"
"0000842852"	"00003366"	"70"	"102"	"0"	"102"	"0"	"c.102C>T"	"r.(?)"	"p.(Gly34=)"	"2"
"0000842853"	"00003366"	"70"	"38"	"0"	"38"	"0"	"c.38G>A"	"r.(?)"	"p.(Arg13His)"	"2"
"0000842854"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	"5"
"0000842855"	"00003366"	"70"	"140"	"0"	"140"	"0"	"c.140G>A"	"r.(?)"	"p.(Arg47His)"	"2"
"0000842856"	"00003366"	"50"	"1782"	"0"	"1782"	"0"	"c.*24C>T"	"r.(?)"	"p.(?)"	""
"0000842857"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	"5"
"0000842858"	"00003366"	"70"	"155"	"0"	"155"	"0"	"c.155T>C"	"r.(?)"	"p.(Leu52Pro)"	"3"
"0000842859"	"00003366"	"70"	"680"	"0"	"680"	"0"	"c.680A>G"	"r.(?)"	"p.(Tyr227Cys)"	""
"0000842860"	"00003366"	"70"	"598"	"0"	"598"	"0"	"c.598C>T"	"r.(?)"	"p.(Arg200*)"	""
"0000842861"	"00003366"	"70"	"598"	"0"	"598"	"0"	"c.598C>T"	"r.(?)"	"p.(Arg200*)"	""
"0000842862"	"00003366"	"70"	"500"	"0"	"500"	"0"	"c.500A>G"	"r.(?)"	"p.(Glu167Gly)"	""
"0000842863"	"00003366"	"70"	"380"	"0"	"380"	"0"	"c.380C>T"	"r.(?)"	"p.(Thr127Met)"	""
"0000842864"	"00003366"	"70"	"817"	"0"	"817"	"0"	"c.817G>A"	"r.(?)"	"p.(Val273Met)"	""
"0000842865"	"00003366"	"70"	"1066"	"0"	"1066"	"0"	"c.1066C>T"	"r.(?)"	"p.(Arg356*)"	""
"0000842866"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000842867"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000842868"	"00003366"	"70"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255Trp)"	""
"0000842869"	"00003366"	"70"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255Trp)"	""
"0000842870"	"00003366"	"70"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255Trp)"	""
"0000842871"	"00003366"	"70"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255Trp)"	""
"0000842872"	"00003366"	"70"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255Trp)"	""
"0000842873"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000842874"	"00003366"	"70"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255Trp)"	""
"0000842875"	"00003366"	"70"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255Trp)"	""
"0000842876"	"00003366"	"70"	"397"	"0"	"397"	"0"	"c.397A>G"	"r.(?)"	"p.(Asn133Asp)"	""
"0000842877"	"00003366"	"70"	"174"	"0"	"176"	"0"	"c.174_176del"	"r.(?)"	"p.(Gln59del)"	""
"0000842878"	"00003366"	"70"	"830"	"0"	"830"	"0"	"c.830C>T"	"r.(?)"	"p.(Thr277Met)"	""
"0000842879"	"00003366"	"70"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255Trp)"	""
"0000842880"	"00003366"	"70"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255Trp)"	""
"0000842881"	"00003366"	"70"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255Trp)"	""
"0000842882"	"00003366"	"70"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255Trp)"	""
"0000842883"	"00003366"	"70"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255Trp)"	""
"0000842884"	"00003366"	"70"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255Trp)"	""
"0000842885"	"00003366"	"70"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255Trp)"	""
"0000842886"	"00003366"	"70"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255Trp)"	""
"0000842887"	"00003366"	"70"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255Trp)"	""
"0000842888"	"00003366"	"70"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255Trp)"	""
"0000842889"	"00003366"	"70"	"950"	"0"	"955"	"0"	"c.950_955del"	"r.(?)"	"p.(Ser318_Leu319del)"	""
"0000842890"	"00003366"	"70"	"950"	"0"	"955"	"0"	"c.950_955del"	"r.(?)"	"p.(Ser318_Leu319del)"	""
"0000842891"	"00003366"	"70"	"950"	"0"	"955"	"0"	"c.950_955del"	"r.(?)"	"p.(Ser318_Leu319del)"	""
"0000842892"	"00003366"	"70"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255Trp)"	""
"0000842893"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	""
"0000842894"	"00003366"	"70"	"764"	"0"	"764"	"0"	"c.764G>A"	"r.(?)"	"p.(Arg255Gln)"	""
"0000842895"	"00003366"	"70"	"38"	"0"	"38"	"0"	"c.38G>A"	"r.(?)"	"p.(Arg13His)"	""
"0000842896"	"00003366"	"70"	"38"	"0"	"38"	"0"	"c.38G>A"	"r.(?)"	"p.(Arg13His)"	""
"0000842897"	"00003366"	"70"	"898"	"0"	"898"	"0"	"c.898G>A"	"r.(?)"	"p.(Glu300Lys)"	""
"0000842898"	"00003366"	"70"	"884"	"0"	"886"	"0"	"c.884_886delTCA"	"r.(?)"	"p.(Ile295del)"	""
"0000842899"	"00003366"	"70"	"899"	"0"	"899"	"0"	"c.899A>C"	"r.(?)"	"p.(Glu300Ala)"	""
"0000842900"	"00003366"	"70"	"1054"	"0"	"1054"	"0"	"c.1054G>A"	"r.(?)"	"p.(Ala352Thr)"	""
"0000842901"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	""
"0000842902"	"00003366"	"70"	"884"	"0"	"886"	"0"	"c.884_886delTCA"	"r.(?)"	"p.(Ile295del)"	""
"0000842903"	"00003366"	"70"	"400"	"0"	"400"	"0"	"c.400C>G"	"r.(?)"	"p.(Leu134Val)"	""
"0000842904"	"00003366"	"70"	"884"	"0"	"884"	"0"	"c.884T>C"	"r.(?)"	"p.(Ile295Thr)"	""
"0000842905"	"00003366"	"70"	"884"	"0"	"886"	"0"	"c.884_886delTCA"	"r.(?)"	"p.(Ile295del)"	""
"0000842906"	"00003366"	"70"	"274"	"0"	"274"	"0"	"c.274C>T"	"r.(?)"	"p.(Arg92Cys)"	""
"0000842907"	"00003366"	"70"	"884"	"0"	"886"	"0"	"c.884_886delTCA"	"r.(?)"	"p.(Ile295del)"	""
"0000842908"	"00003366"	"70"	"400"	"0"	"400"	"0"	"c.400C>G"	"r.(?)"	"p.(Leu134Val)"	""
"0000842909"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000842910"	"00003366"	"70"	"884"	"0"	"886"	"0"	"c.884_886delTCA"	"r.(?)"	"p.(Ile295del)"	""
"0000842911"	"00003366"	"70"	"884"	"0"	"886"	"0"	"c.884_886delTCA"	"r.(?)"	"p.(Ile295del)"	""
"0000842912"	"00003366"	"70"	"1014"	"0"	"1015"	"0"	"c.1014_1015delinsCT"	"r.(?)"	"p.(Trp338_Asn339delinsCysTyr)"	""
"0000842913"	"00003366"	"70"	"256"	"0"	"256"	"0"	"c.256G>A"	"r.(?)"	"p.(Val86Met)"	""
"0000842914"	"00003366"	"70"	"256"	"0"	"256"	"0"	"c.256G>A"	"r.(?)"	"p.(Val86Met)"	""
"0000842915"	"00003366"	"70"	"715"	"0"	"715"	"0"	"c.715G>A"	"r.(?)"	"p.(Val239Met)"	""
"0000842916"	"00003366"	"70"	"256"	"0"	"256"	"0"	"c.256G>A"	"r.(?)"	"p.(Val86Met)"	""
"0000842917"	"00003366"	"70"	"256"	"0"	"256"	"0"	"c.256G>A"	"r.(?)"	"p.(Val86Met)"	""
"0000842919"	"00003366"	"70"	"47"	"0"	"47"	"0"	"c.47C>T"	"r.(?)"	"p.(Ser16Phe)"	""
"0000842920"	"00003366"	"70"	"47"	"0"	"47"	"0"	"c.47C>T"	"r.(?)"	"p.(Ser16Phe)"	""
"0000842921"	"00003366"	"70"	"47"	"0"	"47"	"0"	"c.47C>T"	"r.(?)"	"p.(Ser16Phe)"	""
"0000842922"	"00003366"	"70"	"47"	"0"	"47"	"0"	"c.47C>T"	"r.(?)"	"p.(Ser16Phe)"	""
"0000842923"	"00003366"	"70"	"47"	"0"	"47"	"0"	"c.47C>T"	"r.(?)"	"p.(Ser16Phe)"	""
"0000842924"	"00003366"	"70"	"47"	"0"	"47"	"0"	"c.47C>T"	"r.(?)"	"p.(Ser16Phe)"	""
"0000842925"	"00003366"	"70"	"47"	"0"	"47"	"0"	"c.47C>T"	"r.(?)"	"p.(Ser16Phe)"	""
"0000842926"	"00003366"	"70"	"658"	"0"	"658"	"0"	"c.658C>T"	"r.(?)"	"p.(Gln220*)"	""
"0000842927"	"00003366"	"70"	"1066"	"0"	"1066"	"0"	"c.1066C>T"	"r.(?)"	"p.(Arg356*)"	""
"0000842928"	"00003366"	"70"	"598"	"0"	"598"	"0"	"c.598C>T"	"r.(?)"	"p.(Arg200*)"	""
"0000842929"	"00003366"	"70"	"602"	"0"	"602"	"0"	"c.602T>C"	"r.(?)"	"p.(Ile201Thr)"	""
"0000842930"	"00003366"	"70"	"209"	"0"	"209"	"0"	"c.209A>G"	"r.(?)"	"p.(Asp70Gly)"	""
"0000842931"	"00003366"	"70"	"209"	"0"	"209"	"0"	"c.209A>G"	"r.(?)"	"p.(Asp70Gly)"	""
"0000842932"	"00003366"	"70"	"209"	"0"	"209"	"0"	"c.209A>G"	"r.(?)"	"p.(Asp70Gly)"	""
"0000842933"	"00003366"	"70"	"830"	"0"	"830"	"0"	"c.830C>T"	"r.(?)"	"p.(Thr277Met)"	""
"0000842934"	"00003366"	"70"	"1403"	"0"	"1403"	"0"	"c.1403C>T"	"r.(?)"	"p.(Pro468Leu)"	""
"0000842935"	"00003366"	"70"	"1403"	"0"	"1403"	"0"	"c.1403C>T"	"r.(?)"	"p.(Pro468Leu)"	""
"0000842936"	"00003366"	"70"	"1403"	"0"	"1403"	"0"	"c.1403C>T"	"r.(?)"	"p.(Pro468Leu)"	""
"0000842937"	"00003366"	"70"	"1403"	"0"	"1403"	"0"	"c.1403C>T"	"r.(?)"	"p.(Pro468Leu)"	""
"0000842938"	"00003366"	"70"	"287"	"0"	"287"	"0"	"c.287A>G"	"r.(?)"	"p.(Gln96Arg)"	""
"0000842939"	"00003366"	"70"	"28"	"0"	"28"	"0"	"c.28G>A"	"r.(?)"	"p.(Ala10Thr)"	""
"0000842940"	"00003366"	"70"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	""
"0000842941"	"00003366"	"70"	"701"	"0"	"701"	"0"	"c.701T>C"	"r.(?)"	"p.(Leu234Pro)"	""
"0000842942"	"00003366"	"70"	"727"	"0"	"727"	"0"	"c.727G>A"	"r.(?)"	"p.(Ala243Thr)"	""
"0000842943"	"00003366"	"70"	"877"	"0"	"877"	"0"	"c.877C>A"	"r.(?)"	"p.(Gln293Lys)"	""
"0000842944"	"00003366"	"70"	"905"	"0"	"905"	"0"	"c.905A>C"	"r.(?)"	"p.(Asp302Ala)"	""
"0000842945"	"00003366"	"70"	"884"	"0"	"884"	"0"	"c.884T>C"	"r.(?)"	"p.(Ile295Thr)"	""
"0000842946"	"00003366"	"70"	"727"	"0"	"727"	"0"	"c.727G>A"	"r.(?)"	"p.(Ala243Thr)"	""
"0000842947"	"00003366"	"70"	"28"	"0"	"28"	"0"	"c.28G>A"	"r.(?)"	"p.(Ala10Thr)"	""
"0000842948"	"00003366"	"70"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	""
"0000842949"	"00003366"	"70"	"900"	"0"	"900"	"0"	"c.900G>C"	"r.(?)"	"p.(Glu300Asp)"	""
"0000842950"	"00003366"	"70"	"89"	"0"	"89"	"0"	"c.89A>G"	"r.(?)"	"p.(Lys30Arg)"	""
"0000842951"	"00003366"	"70"	"887"	"0"	"887"	"0"	"c.887A>G"	"r.(?)"	"p.(Asn296Ser)"	""
"0000842952"	"00003366"	"70"	"887"	"0"	"887"	"0"	"c.887A>G"	"r.(?)"	"p.(Asn296Ser)"	""
"0000842953"	"00003366"	"70"	"727"	"0"	"727"	"0"	"c.727G>A"	"r.(?)"	"p.(Ala243Thr)"	""
"0000842954"	"00003366"	"70"	"274"	"0"	"274"	"0"	"c.274C>T"	"r.(?)"	"p.(Arg92Cys)"	""
"0000842955"	"00003366"	"70"	"218"	"0"	"218"	"0"	"c.218T>A"	"r.(?)"	"p.(Ile73Asn)"	""
"0000842956"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	""
"0000842957"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	""
"0000842958"	"00003366"	"70"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	""
"0000842959"	"00003366"	"70"	"91"	"0"	"91"	"0"	"c.91C>A"	"r.(?)"	"p.(Leu31Met)"	""
"0000842960"	"00003366"	"70"	"91"	"0"	"91"	"0"	"c.91C>A"	"r.(?)"	"p.(Leu31Met)"	""
"0000842961"	"00003366"	"70"	"1550"	"0"	"1550"	"0"	"c.1550C>G"	"r.(?)"	"p.(Ser517*)"	""
"0000842984"	"00003366"	"70"	"26"	"0"	"26"	"0"	"c.26T>C"	"r.(?)"	"p.(Val9Ala)"	""
"0000842985"	"00003366"	"70"	"32"	"0"	"32"	"0"	"c.32A>T"	"r.(?)"	"p.(Asn11Ile)"	""
"0000842986"	"00003366"	"70"	"37"	"0"	"37"	"0"	"c.37C>T"	"r.(?)"	"p.(Arg13Cys)"	""
"0000842987"	"00003366"	"70"	"44"	"0"	"44"	"0"	"c.44G>A"	"r.(?)"	"p.(Gly15Asp)"	""
"0000842988"	"00003366"	"70"	"47"	"0"	"47"	"0"	"c.47C>T"	"r.(?)"	"p.(Ser16Phe)"	""
"0000842989"	"00003366"	"70"	"47"	"0"	"47"	"0"	"c.47C>T"	"r.(?)"	"p.(Ser16Phe)"	""
"0000842990"	"00003366"	"70"	"47"	"0"	"47"	"0"	"c.47C>T"	"r.(?)"	"p.(Ser16Phe)"	""
"0000842991"	"00003366"	"70"	"47"	"0"	"47"	"0"	"c.47C>T"	"r.(?)"	"p.(Ser16Phe)"	""
"0000842992"	"00003366"	"70"	"47"	"0"	"47"	"0"	"c.47C>T"	"r.(?)"	"p.(Ser16Phe)"	""
"0000842993"	"00003366"	"70"	"82"	"0"	"82"	"0"	"c.82A>C"	"r.(?)"	"p.(Ile28Leu)"	""
"0000842994"	"00003366"	"70"	"215"	"0"	"215"	"0"	"c.215A>T"	"r.(?)"	"p.(Tyr72Phe)"	""
"0000842995"	"00003366"	"70"	"224"	"0"	"224"	"0"	"c.224T>C"	"r.(?)"	"p.(Leu75Pro)"	""
"0000842996"	"00003366"	"70"	"287"	"0"	"287"	"0"	"c.287A>G"	"r.(?)"	"p.(Gln96Arg)"	""
"0000842997"	"00003366"	"70"	"294"	"0"	"294"	"0"	"c.294G>C"	"r.(?)"	"p.(Glu98Asp)"	""
"0000842998"	"00003366"	"70"	"403"	"0"	"403"	"0"	"c.403G>A"	"r.(?)"	"p.(Gly135Ser)"	""
"0000842999"	"00003366"	"70"	"403"	"0"	"403"	"0"	"c.403G>A"	"r.(?)"	"p.(Gly135Ser)"	""
"0000843000"	"00003366"	"70"	"419"	"0"	"419"	"0"	"c.419T>C"	"r.(?)"	"p.(Leu140Pro)"	""
"0000843001"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	""
"0000843002"	"00003366"	"70"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	""
"0000843003"	"00003366"	"70"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	""
"0000843004"	"00003366"	"70"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	""
"0000843005"	"00003366"	"70"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	""
"0000843006"	"00003366"	"70"	"692"	"0"	"692"	"0"	"c.692G>C"	"r.(?)"	"p.(Ser231Thr)"	""
"0000843007"	"00003366"	"70"	"692"	"0"	"692"	"0"	"c.692G>C"	"r.(?)"	"p.(Ser231Thr)"	""
"0000843008"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	""
"0000843009"	"00003366"	"70"	"853"	"0"	"853"	"0"	"c.853G>A"	"r.(?)"	"p.(Val285Ile)"	""
"0000843010"	"00003366"	"70"	"874"	"0"	"874"	"0"	"c.874G>A"	"r.(?)"	"p.(Glu292Lys)"	""
"0000843011"	"00003366"	"70"	"874"	"0"	"874"	"0"	"c.874G>A"	"r.(?)"	"p.(Glu292Lys)"	""
"0000843012"	"00003366"	"70"	"874"	"0"	"874"	"0"	"c.874G>A"	"r.(?)"	"p.(Glu292Lys)"	""
"0000843013"	"00003366"	"70"	"874"	"0"	"874"	"0"	"c.874G>A"	"r.(?)"	"p.(Glu292Lys)"	""
"0000843014"	"00003366"	"70"	"888"	"0"	"888"	"0"	"c.888C>A"	"r.(?)"	"p.(Asn296Lys)"	""
"0000843015"	"00003366"	"70"	"889"	"0"	"889"	"0"	"c.889C>T"	"r.(?)"	"p.(Pro297Ser)"	""
"0000843016"	"00003366"	"70"	"889"	"0"	"889"	"0"	"c.889C>T"	"r.(?)"	"p.(Pro297Ser)"	""
"0000843017"	"00003366"	"70"	"889"	"0"	"889"	"0"	"c.889C>T"	"r.(?)"	"p.(Pro297Ser)"	""
"0000843018"	"00003366"	"70"	"905"	"0"	"905"	"0"	"c.905A>G"	"r.(?)"	"p.(Asp302Gly)"	""
"0000843019"	"00003366"	"70"	"907"	"0"	"907"	"0"	"c.907G>A"	"r.(?)"	"p.(Asp303Asn)"	""
"0000843020"	"00003366"	"70"	"917"	"0"	"917"	"0"	"c.917A>G"	"r.(?)"	"p.(Glu306Gly)"	""
"0000843021"	"00003366"	"70"	"917"	"0"	"917"	"0"	"c.917A>G"	"r.(?)"	"p.(Glu306Gly)"	""
"0000843022"	"00003366"	"70"	"920"	"0"	"920"	"0"	"c.920C>A"	"r.(?)"	"p.(Thr307Asn)"	""
"0000843023"	"00003366"	"70"	"920"	"0"	"920"	"0"	"c.920C>A"	"r.(?)"	"p.(Thr307Asn)"	""
"0000843024"	"00003366"	"70"	"924"	"0"	"924"	"0"	"c.924C>A"	"r.(?)"	"p.(Asn308Lys)"	""
"0000843025"	"00003366"	"70"	"1397"	"0"	"1397"	"0"	"c.1397G>C"	"r.(?)"	"p.(Ser466Thr)"	""
"0000843034"	"00003366"	"70"	"229"	"0"	"229"	"0"	"c.229C>T"	"r.(?)"	"p.(Pro77Ser)"	""
"0000843077"	"00003366"	"70"	"964"	"0"	"964"	"0"	"c.964G>A"	"r.(?)"	"p.(Val322Met)"	"6"
"0000843078"	"00003366"	"70"	"964"	"0"	"964"	"0"	"c.964G>A"	"r.(?)"	"p.(Val322Met)"	"6"
"0000843079"	"00003366"	"70"	"964"	"0"	"964"	"0"	"c.964G>A"	"r.(?)"	"p.(Val322Met)"	"6"
"0000843080"	"00003366"	"70"	"33"	"0"	"33"	"0"	"c.33T>G"	"r.(?)"	"p.(Asn11Lys)"	""
"0000843081"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	""
"0000843082"	"00003366"	"70"	"884"	"0"	"886"	"0"	"c.884_886del"	"r.(?)"	"p.(Ile295del)"	""
"0000843083"	"00003366"	"70"	"884"	"0"	"886"	"0"	"c.884_886del"	"r.(?)"	"p.(Ile295del)"	""
"0000843084"	"00003366"	"70"	"297"	"0"	"297"	"0"	"c.297C>A"	"r.(?)"	"p.(Asn99Lys)"	""
"0000843085"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000843086"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000843087"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000843088"	"00003366"	"70"	"590"	"0"	"615"	"0"	"c.590_615del"	"r.(?)"	"p.(Leu197Profs*26)"	""
"0000843089"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000843090"	"00003366"	"70"	"590"	"0"	"615"	"0"	"c.590_615del"	"r.(?)"	"p.(Leu197Profs*26)"	""
"0000843091"	"00003366"	"70"	"934"	"0"	"934"	"0"	"c.934G>A"	"r.(?)"	"p.(Asp312Asn)"	"8"
"0000843092"	"00003366"	"70"	"1370"	"0"	"1370"	"0"	"c.1370C>G"	"r.(?)"	"p.(Pro457Arg)"	"10"
"0000843093"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	"4"
"0000843094"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	"4"
"0000843095"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	"5"
"0000843096"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	"5"
"0000843097"	"00003366"	"70"	"658"	"0"	"658"	"0"	"c.658C>T"	"r.(?)"	"p.(Gln220Ter)"	"6"
"0000843098"	"00003366"	"70"	"83"	"0"	"83"	"0"	"c.83T>A"	"r.(?)"	"p.(Ile28Asn)"	"2"
"0000843099"	"00003366"	"70"	"956"	"0"	"956"	"0"	"c.956T>C"	"r.(?)"	"p.(Leu319Pro)"	"9"
"0000843100"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	"4"
"0000843101"	"00003366"	"70"	"37"	"0"	"37"	"0"	"c.37C>T"	"r.(?)"	"p.(Arg13Cys)"	"2"
"0000843102"	"00003366"	"70"	"636"	"1"	"636"	"1"	"c.636+1G>A"	"r.(?)"	"p.(?)"	"5i"
"0000843103"	"00003366"	"70"	"636"	"1"	"636"	"1"	"c.636+1G>A"	"r.(?)"	"p.(?)"	"5i"
"0000843104"	"00003366"	"70"	"934"	"0"	"934"	"0"	"c.934G>A"	"r.(?)"	"p.(Asp312Asn)"	"8"
"0000843105"	"00003366"	"70"	"-37"	"5"	"-37"	"5"	"c.-37+5G>A"	"r.(?)"	"p.(?)"	"1i"
"0000843106"	"00003366"	"70"	"851"	"0"	"851"	"0"	"c.851A>G"	"r.(?)"	"p.(Tyr284Cys)"	"6"
"0000843107"	"00003366"	"70"	"851"	"0"	"851"	"0"	"c.851A>G"	"r.(?)"	"p.(Tyr284Cys)"	"6"
"0000843108"	"00003366"	"70"	"851"	"0"	"851"	"0"	"c.851A>G"	"r.(?)"	"p.(Tyr284Cys)"	"6"
"0000843120"	"00003366"	"70"	"418"	"0"	"418"	"0"	"c.418C>G"	"r.(?)"	"p.(Leu140Val)"	""
"0000843121"	"00003366"	"70"	"418"	"0"	"418"	"0"	"c.418C>G"	"r.(?)"	"p.(Leu140Val)"	""
"0000843122"	"00003366"	"70"	"418"	"0"	"418"	"0"	"c.418C>G"	"r.(?)"	"p.(Leu140Val)"	""
"0000843123"	"00003366"	"70"	"418"	"0"	"418"	"0"	"c.418C>G"	"r.(?)"	"p.(Leu140Val)"	""
"0000843124"	"00003366"	"70"	"418"	"0"	"418"	"0"	"c.418C>G"	"r.(?)"	"p.(Leu140Val)"	""
"0000843125"	"00003366"	"70"	"418"	"0"	"418"	"0"	"c.418C>G"	"r.(?)"	"p.(Leu140Val)"	""
"0000843126"	"00003366"	"70"	"418"	"0"	"418"	"0"	"c.418C>G"	"r.(?)"	"p.(Leu140Val)"	""
"0000843127"	"00003366"	"70"	"418"	"0"	"418"	"0"	"c.418C>G"	"r.(?)"	"p.(Leu140Val)"	""
"0000843128"	"00003366"	"70"	"418"	"0"	"418"	"0"	"c.418C>G"	"r.(?)"	"p.(Leu140Val)"	""
"0000843129"	"00003366"	"70"	"418"	"0"	"418"	"0"	"c.418C>G"	"r.(?)"	"p.(Leu140Val)"	""
"0000843130"	"00003366"	"70"	"659"	"0"	"659"	"0"	"c.659A>C"	"r.(?)"	"p.(Gln220Pro)"	""
"0000843131"	"00003366"	"70"	"659"	"0"	"659"	"0"	"c.659A>C"	"r.(?)"	"p.(Gln220Pro)"	""
"0000843132"	"00003366"	"70"	"964"	"0"	"964"	"0"	"c.964G>A"	"r.(?)"	"p.(Val322Met)"	""
"0000843133"	"00003366"	"70"	"602"	"0"	"602"	"0"	"c.602T>C"	"r.(?)"	"p.(Ile201Thr)"	""
"0000843134"	"00003366"	"70"	"122"	"0"	"122"	"0"	"c.122T>C"	"r.(?)"	"p.(Leu41Pro)"	""
"0000843135"	"00003366"	"70"	"400"	"0"	"400"	"0"	"c.400C>G"	"r.(?)"	"p.(Leu134Val)"	""
"0000843136"	"00003366"	"70"	"454"	"0"	"454"	"0"	"c.454C>G"	"r.(?)"	"p.(Pro152Ala)"	""
"0000843139"	"00003366"	"70"	"76"	"0"	"76"	"0"	"c.76G>A"	"r.(?)"	"p.(Gly26Ser)"	""
"0000843160"	"00003366"	"90"	"898"	"0"	"898"	"0"	"c.898G>A"	"r.(?)"	"p.(Glu300Lys)"	"7"
"0000843161"	"00003366"	"90"	"310"	"0"	"310"	"0"	"c.310G>C"	"r.(?)"	"p.(Asp104His)"	"4"
"0000843162"	"00003366"	"90"	"698"	"0"	"698"	"0"	"c.698C>T"	"r.(?)"	"p.(Pro233Leu)"	"6"
"0000843163"	"00003366"	"90"	"898"	"0"	"898"	"0"	"c.898G>A"	"r.(?)"	"p.(Glu300Lys)"	"7"
"0000843164"	"00003366"	"90"	"58"	"0"	"58"	"0"	"c.58C>G"	"r.(?)"	"p.(Leu20Val)"	"2"
"0000843165"	"00003366"	"90"	"58"	"0"	"58"	"0"	"c.58C>G"	"r.(?)"	"p.(Leu20Val)"	"2"
"0000843166"	"00003366"	"90"	"764"	"0"	"764"	"0"	"c.764G>A"	"r.(?)"	"p.(Arg255Gln)"	"7"
"0000843167"	"00003366"	"70"	"236"	"0"	"236"	"0"	"c.236C>A"	"r.(?)"	"p.(Ser79Tyr)"	"3"
"0000843168"	"00003366"	"90"	"241"	"0"	"241"	"0"	"c.241G>A"	"r.(?)"	"p.(Val81Met)"	"3"
"0000843169"	"00003366"	"90"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"6"
"0000843170"	"00003366"	"90"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	"5"
"0000843171"	"00003366"	"90"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255Trp)"	"7"
"0000843172"	"00003366"	"70"	"235"	"0"	"235"	"0"	"c.235dup"	"r.(?)"	"p.(Ser79Phefs*153)"	"3"
"0000843173"	"00003366"	"90"	"5"	"0"	"5"	"0"	"c.5C>G"	"r.(?)"	"p.(Thr2Ser)"	"2"
"0000843174"	"00003366"	"90"	"422"	"0"	"429"	"0"	"c.422_429del"	"r.(?)"	"p.(Arg141Glnfs*88)"	"3"
"0000843175"	"00003366"	"70"	"949"	"-1"	"949"	"-1"	"c.949-1G>A"	"r.spl"	"p.(?)"	"8i"
"0000843176"	"00003366"	"90"	"898"	"0"	"898"	"0"	"c.898G>A"	"r.(?)"	"p.(Glu300Lys)"	"7"
"0000843177"	"00003366"	"90"	"889"	"0"	"889"	"0"	"c.889C>A"	"r.(?)"	"p.(Pro297Thr)"	"8"
"0000843178"	"00003366"	"90"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"6"
"0000843179"	"00003366"	"90"	"898"	"0"	"898"	"0"	"c.898G>A"	"r.(?)"	"p.(Glu300Lys)"	"7"
"0000843180"	"00003366"	"90"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"6"
"0000843181"	"00003366"	"90"	"898"	"0"	"898"	"0"	"c.898G>A"	"r.(?)"	"p.(Glu300Lys)"	"7"
"0000843182"	"00003366"	"90"	"898"	"0"	"898"	"0"	"c.898G>A"	"r.(?)"	"p.(Glu300Lys)"	"7"
"0000843183"	"00003366"	"90"	"898"	"0"	"898"	"0"	"c.898G>A"	"r.(?)"	"p.(Glu300Lys)"	"7"
"0000843184"	"00003366"	"90"	"140"	"0"	"140"	"0"	"c.140G>A"	"r.(?)"	"p.(Arg47His)"	"2"
"0000843185"	"00003366"	"90"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	"5"
"0000843186"	"00003366"	"70"	"843"	"0"	"843"	"0"	"c.843C>A"	"r.(?)"	"p.(Phe281Leu)"	"7"
"0000843187"	"00003366"	"90"	"389"	"0"	"389"	"0"	"c.389G>T"	"r.(?)"	"p.(Arg130Leu)"	"4"
"0000843188"	"00003366"	"70"	"499"	"0"	"499"	"0"	"c.499G>A"	"r.(?)"	"p.(Glu167Lys)"	"5"
"0000843189"	"00003366"	"90"	"389"	"0"	"389"	"0"	"c.389G>T"	"r.(?)"	"p.(Arg130Leu)"	"4"
"0000843190"	"00003366"	"70"	"499"	"0"	"499"	"0"	"c.499G>A"	"r.(?)"	"p.(Glu167Lys)"	"5"
"0000843191"	"00003366"	"70"	"224"	"0"	"224"	"0"	"c.224T>C"	"r.(?)"	"p.(Leu75Pro)"	"3"
"0000843192"	"00003366"	"70"	"224"	"0"	"224"	"0"	"c.224T>C"	"r.(?)"	"p.(Leu75Pro)"	"3"
"0000843193"	"00003366"	"70"	"224"	"0"	"224"	"0"	"c.224T>C"	"r.(?)"	"p.(Leu75Pro)"	"3"
"0000843194"	"00003366"	"70"	"224"	"0"	"224"	"0"	"c.224T>C"	"r.(?)"	"p.(Leu75Pro)"	"3"
"0000843195"	"00003366"	"90"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	"5"
"0000843196"	"00003366"	"90"	"604"	"0"	"604"	"0"	"c.604C>T"	"r.(?)"	"p.(Arg202Trp)"	"5"
"0000843197"	"00003366"	"90"	"604"	"0"	"604"	"0"	"c.604C>T"	"r.(?)"	"p.(Arg202Trp)"	"5"
"0000843198"	"00003366"	"90"	"884"	"0"	"884"	"0"	"c.884T>C"	"r.(?)"	"p.(Ile295Thr)"	"8"
"0000843199"	"00003366"	"90"	"698"	"0"	"698"	"0"	"c.698C>T"	"r.(?)"	"p.(Pro233Leu)"	"6"
"0000843200"	"00003366"	"90"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"6"
"0000843201"	"00003366"	"90"	"5"	"0"	"5"	"0"	"c.5C>G"	"r.(?)"	"p.(Thr2Ser)"	"2"
"0000843202"	"00003366"	"90"	"5"	"0"	"5"	"0"	"c.5C>G"	"r.(?)"	"p.(Thr2Ser)"	"2"
"0000843203"	"00003366"	"90"	"5"	"0"	"5"	"0"	"c.5C>G"	"r.(?)"	"p.(Thr2Ser)"	"2"
"0000843204"	"00003366"	"90"	"1037"	"0"	"1037"	"0"	"c.1037C>A"	"r.(?)"	"p.(Pro346His)"	"9"
"0000843205"	"00003366"	"90"	"1037"	"0"	"1037"	"0"	"c.1037C>A"	"r.(?)"	"p.(Pro346His)"	"9"
"0000843206"	"00003366"	"70"	"416"	"0"	"416"	"0"	"c.416T>A"	"r.(?)"	"p.(Ile139Asn)"	"4"
"0000843207"	"00003366"	"90"	"346"	"0"	"355"	"0"	"c.346_355dup"	"r.(?)"	"p.(Glu119Glyfs*116)"	"4"
"0000843208"	"00003366"	"90"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255Trp)"	"7"
"0000843209"	"00003366"	"90"	"5"	"0"	"5"	"0"	"c.5C>G"	"r.(?)"	"p.(Thr2Ser)"	"2"
"0000843210"	"00003366"	"90"	"5"	"0"	"5"	"0"	"c.5C>G"	"r.(?)"	"p.(Thr2Ser)"	"2"
"0000843211"	"00003366"	"70"	"767"	"0"	"767"	"0"	"c.767A>G"	"r.(?)"	"p.(Gln256Arg)"	"7"
"0000843212"	"00003366"	"70"	"146"	"0"	"146"	"0"	"c.146T>A"	"r.(?)"	"p.(Ile49Asn)"	""
"0000843213"	"00003366"	"70"	"146"	"0"	"146"	"0"	"c.146T>A"	"r.(?)"	"p.(Ile49Asn)"	""
"0000843214"	"00003366"	"90"	"898"	"0"	"898"	"0"	"c.898G>A"	"r.(?)"	"p.(Glu300Lys)"	"7"
"0000843215"	"00003366"	"90"	"898"	"0"	"898"	"0"	"c.898G>A"	"r.(?)"	"p.(Glu300Lys)"	"7"
"0000843216"	"00003366"	"90"	"898"	"0"	"898"	"0"	"c.898G>A"	"r.(?)"	"p.(Glu300Lys)"	"7"
"0000843217"	"00003366"	"90"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"6"
"0000843218"	"00003366"	"90"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	"6"
"0000843219"	"00003366"	"90"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	"6"
"0000843220"	"00003366"	"90"	"227"	"0"	"227"	"0"	"c.227T>A"	"r.(?)"	"p.(Ile76Asn)"	"3"
"0000843221"	"00003366"	"90"	"422"	"0"	"429"	"0"	"c.422_429del"	"r.(?)"	"p.(Arg141Glnfs*88)"	"3"
"0000843222"	"00003366"	"90"	"431"	"0"	"431"	"0"	"c.431G>A"	"r.(?)"	"p.(Ser144Asn)"	"4"
"0000843223"	"00003366"	"70"	"52"	"0"	"52"	"0"	"c.52dup"	"r.(?)"	"p.(Ser18Phefs*34)"	"2"
"0000843224"	"00003366"	"70"	"292"	"0"	"292"	"0"	"c.292G>A"	"r.(?)"	"p.(Glu98Lys)"	"2"
"0000843225"	"00003366"	"70"	"292"	"0"	"292"	"0"	"c.292G>A"	"r.(?)"	"p.(Glu98Lys)"	"2"
"0000843226"	"00003366"	"70"	"292"	"0"	"292"	"0"	"c.292G>A"	"r.(?)"	"p.(Glu98Lys)"	"2"
"0000843227"	"00003366"	"70"	"292"	"0"	"292"	"0"	"c.292G>A"	"r.(?)"	"p.(Glu98Lys)"	"2"
"0000843228"	"00003366"	"70"	"292"	"0"	"292"	"0"	"c.292G>A"	"r.(?)"	"p.(Glu98Lys)"	"2"
"0000843229"	"00003366"	"90"	"920"	"0"	"920"	"0"	"c.920C>T"	"r.(?)"	"p.(Thr307Ile)"	"8"
"0000843230"	"00003366"	"90"	"920"	"0"	"920"	"0"	"c.920C>T"	"r.(?)"	"p.(Thr307Ile)"	"8"
"0000843231"	"00003366"	"90"	"920"	"0"	"920"	"0"	"c.920C>T"	"r.(?)"	"p.(Thr307Ile)"	"8"
"0000843232"	"00003366"	"90"	"898"	"0"	"898"	"0"	"c.898G>A"	"r.(?)"	"p.(Glu300Lys)"	"7"
"0000843233"	"00003366"	"90"	"898"	"0"	"898"	"0"	"c.898G>A"	"r.(?)"	"p.(Glu300Lys)"	"7"
"0000843234"	"00003366"	"90"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	"5"
"0000843235"	"00003366"	"90"	"898"	"0"	"898"	"0"	"c.898G>A"	"r.(?)"	"p.(Glu300Lys)"	"7"
"0000843236"	"00003366"	"90"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	"5"
"0000843237"	"00003366"	"90"	"898"	"0"	"898"	"0"	"c.898G>A"	"r.(?)"	"p.(Glu300Lys)"	"7"
"0000843238"	"00003366"	"90"	"898"	"0"	"898"	"0"	"c.898G>A"	"r.(?)"	"p.(Glu300Lys)"	"7"
"0000843239"	"00003366"	"90"	"898"	"0"	"898"	"0"	"c.898G>A"	"r.(?)"	"p.(Glu300Lys)"	"7"
"0000843240"	"00003366"	"90"	"898"	"0"	"898"	"0"	"c.898G>A"	"r.(?)"	"p.(Glu300Lys)"	"7"
"0000843241"	"00003366"	"90"	"898"	"0"	"898"	"0"	"c.898G>A"	"r.(?)"	"p.(Glu300Lys)"	"7"
"0000843242"	"00003366"	"90"	"898"	"0"	"898"	"0"	"c.898G>A"	"r.(?)"	"p.(Glu300Lys)"	"7"
"0000843243"	"00003366"	"90"	"898"	"0"	"898"	"0"	"c.898G>A"	"r.(?)"	"p.(Glu300Lys)"	"7"
"0000843244"	"00003366"	"90"	"5"	"0"	"5"	"0"	"c.5C>G"	"r.(?)"	"p.(Thr2Ser)"	"2"
"0000843245"	"00003366"	"90"	"38"	"0"	"38"	"0"	"c.38G>A"	"r.(?)"	"p.(Arg13His)"	"2"
"0000843246"	"00003366"	"90"	"903"	"0"	"903"	"0"	"c.903T>G"	"r.(?)"	"p.(Asp301Glu)"	"8"
"0000843247"	"00003366"	"90"	"903"	"0"	"903"	"0"	"c.903T>G"	"r.(?)"	"p.(Asp301Glu)"	"8"
"0000843248"	"00003366"	"90"	"903"	"0"	"903"	"0"	"c.903T>G"	"r.(?)"	"p.(Asp301Glu)"	"8"
"0000843249"	"00003366"	"90"	"898"	"0"	"898"	"0"	"c.898G>A"	"r.(?)"	"p.(Glu300Lys)"	"7"
"0000843250"	"00003366"	"90"	"241"	"0"	"241"	"0"	"c.241G>A"	"r.(?)"	"p.(Val81Met)"	"3"
"0000843251"	"00003366"	"90"	"241"	"0"	"241"	"0"	"c.241G>T"	"r.(?)"	"p.(Val81Leu)"	"3"
"0000843252"	"00003366"	"90"	"903"	"0"	"903"	"0"	"c.903T>G"	"r.(?)"	"p.(Asp301Glu)"	"8"
"0000843253"	"00003366"	"90"	"898"	"0"	"898"	"0"	"c.898G>A"	"r.(?)"	"p.(Glu300Lys)"	"7"
"0000843254"	"00003366"	"90"	"898"	"0"	"898"	"0"	"c.898G>A"	"r.(?)"	"p.(Glu300Lys)"	"7"
"0000843255"	"00003366"	"90"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"6"
"0000843256"	"00003366"	"90"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"6"
"0000843257"	"00003366"	"90"	"888"	"0"	"888"	"0"	"c.888C>A"	"r.(?)"	"p.(Asn296Lys)"	"7"
"0000843258"	"00003366"	"90"	"888"	"0"	"888"	"0"	"c.888C>A"	"r.(?)"	"p.(Asn296Lys)"	"7"
"0000843259"	"00003366"	"90"	"38"	"0"	"38"	"0"	"c.38G>A"	"r.(?)"	"p.(Arg13His)"	"2"
"0000843260"	"00003366"	"90"	"604"	"0"	"604"	"0"	"c.604C>T"	"r.(?)"	"p.(Arg202Trp)"	"5"
"0000843261"	"00003366"	"70"	"886"	"0"	"886"	"0"	"c.886A>G"	"r.(?)"	"p.(Asn296Asp)"	"8"
"0000843262"	"00003366"	"90"	"898"	"0"	"898"	"0"	"c.898G>A"	"r.(?)"	"p.(Glu300Lys)"	"7"
"0000843263"	"00003366"	"70"	"287"	"0"	"287"	"0"	"c.287A>T"	"r.(?)"	"p.(Gln96Leu)"	"4"
"0000843334"	"00003366"	"90"	"5"	"0"	"5"	"0"	"c.5C>T"	"r.(?)"	"p.(Thr2Ile)"	"2"
"0000843335"	"00003366"	"90"	"11"	"0"	"11"	"0"	"c.11C>T"	"r.(?)"	"p.(Thr4Ile)"	"2"
"0000843336"	"00003366"	"90"	"11"	"0"	"11"	"0"	"c.11C>T"	"r.(?)"	"p.(Thr4Ile)"	"2"
"0000843337"	"00003366"	"90"	"26"	"0"	"26"	"0"	"c.26T>G"	"r.(?)"	"p.(Val9Gly)"	"2"
"0000843338"	"00003366"	"90"	"44"	"0"	"44"	"0"	"c.44G>A"	"r.(?)"	"p.(Gly15Asp)"	"2"
"0000843339"	"00003366"	"90"	"44"	"0"	"44"	"0"	"c.44G>A"	"r.(?)"	"p.(Gly15Asp)"	"2"
"0000843340"	"00003366"	"90"	"44"	"0"	"44"	"0"	"c.44G>A"	"r.(?)"	"p.(Gly15Asp)"	"2"
"0000843341"	"00003366"	"90"	"47"	"0"	"47"	"0"	"c.47C>T"	"r.(?)"	"p.(Ser16Phe)"	"2"
"0000843342"	"00003366"	"90"	"74"	"0"	"74"	"0"	"c.74G>A"	"r.(?)"	"p.(Arg25Gln)"	"2"
"0000843343"	"00003366"	"90"	"80"	"0"	"80"	"0"	"c.80G>C"	"r.(?)"	"p.(Ser27Thr)"	"1"
"0000843344"	"00003366"	"90"	"80"	"0"	"80"	"0"	"c.80G>C"	"r.(?)"	"p.(Ser27Thr)"	"2"
"0000843345"	"00003366"	"90"	"80"	"0"	"80"	"0"	"c.80G>C"	"r.(?)"	"p.(Ser27Thr)"	"2"
"0000843346"	"00003366"	"90"	"86"	"0"	"86"	"0"	"c.86A>G"	"r.(?)"	"p.(Tyr29Cys)"	"2"
"0000843347"	"00003366"	"90"	"274"	"0"	"274"	"0"	"c.274C>T"	"r.(?)"	"p.(Arg92Cys)"	"4"
"0000843348"	"00003366"	"90"	"278"	"0"	"278"	"0"	"c.278G>C"	"r.(?)"	"p.(Trp93Ser)"	"4"
"0000843349"	"00003366"	"90"	"301"	"0"	"301"	"0"	"c.301C>A"	"r.(?)"	"p.(Pro101Thr)"	"4"
"0000843350"	"00003366"	"90"	"324"	"0"	"324"	"0"	"c.324C>G"	"r.(?)"	"p.(Ser108Arg)"	"4"
"0000843351"	"00003366"	"90"	"535"	"0"	"535"	"0"	"c.535A>G"	"r.(?)"	"p.(Asn179Asp)"	"5"
"0000843352"	"00003366"	"90"	"544"	"0"	"544"	"0"	"c.544T>C"	"r.(?)"	"p.(Trp182Arg)"	"5"
"0000843353"	"00003366"	"90"	"598"	"0"	"598"	"0"	"c.598C>T"	"r.(?)"	"p.(Arg200*)"	"5"
"0000843354"	"00003366"	"90"	"728"	"0"	"728"	"0"	"c.728C>A"	"r.(?)"	"p.(Ala243Glu)"	"7"
"0000843355"	"00003366"	"90"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"6"
"0000843356"	"00003366"	"90"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"6"
"0000843357"	"00003366"	"90"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	"6"
"0000843358"	"00003366"	"90"	"652"	"0"	"652"	"0"	"c.652C>A"	"r.(?)"	"p.(Arg218Ser)"	"6"
"0000843359"	"00003366"	"90"	"695"	"0"	"695"	"0"	"c.695T>A"	"r.(?)"	"p.(Ile232Asn)"	"5"
"0000843360"	"00003366"	"90"	"703"	"0"	"703"	"0"	"c.703G>T"	"r.(?)"	"p.(Val235Leu)"	"6"
"0000843361"	"00003366"	"90"	"727"	"0"	"727"	"0"	"c.727G>A"	"r.(?)"	"p.(Ala243Thr)"	"7"
"0000843362"	"00003366"	"90"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	"7"
"0000843363"	"00003366"	"90"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	"7"
"0000843364"	"00003366"	"90"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	"7"
"0000843365"	"00003366"	"90"	"874"	"0"	"874"	"0"	"c.874G>C"	"r.(?)"	"p.(Glu292Gln)"	"8"
"0000843366"	"00003366"	"90"	"888"	"0"	"888"	"0"	"c.888C>G"	"r.(?)"	"p.(Asn296Lys)"	"8"
"0000843367"	"00003366"	"90"	"888"	"0"	"888"	"0"	"c.888C>A"	"r.(?)"	"p.(Asn296Lys)"	"8"
"0000843368"	"00003366"	"90"	"893"	"0"	"893"	"0"	"c.893T>G"	"r.(?)"	"p.(Phe298Cys)"	"8"
"0000843369"	"00003366"	"90"	"893"	"0"	"893"	"0"	"c.893T>G"	"r.(?)"	"p.(Phe298Cys)"	"8"
"0000843370"	"00003366"	"90"	"903"	"0"	"903"	"0"	"c.903T>G"	"r.(?)"	"p.(Asp301Glu)"	"8"
"0000843379"	"00003366"	"90"	"614"	"0"	"614"	"0"	"c.614T>C"	"r.(?)"	"p.(Ile205Thr)"	"2"
"0000843399"	"00003366"	"70"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.(?)"	"p.(Met1?)"	"2"
"0000843400"	"00003366"	"70"	"287"	"0"	"287"	"0"	"c.287A>G"	"r.(?)"	"p.(Gln96Arg)"	""
"0000843401"	"00003366"	"70"	"119"	"0"	"119"	"0"	"c.119T>C"	"r.(?)"	"p.(Leu40Pro)"	""
"0000843402"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000843413"	"00003366"	"70"	"91"	"0"	"91"	"0"	"c.91C>A"	"r.(?)"	"p.(Leu31Met)"	""
"0000843414"	"00003366"	"70"	"91"	"0"	"91"	"0"	"c.91C>A"	"r.(?)"	"p.(Leu31Met)"	""
"0000843415"	"00003366"	"70"	"91"	"0"	"91"	"0"	"c.91C>A"	"r.(?)"	"p.(Leu31Met)"	""
"0000843416"	"00003366"	"70"	"91"	"0"	"91"	"0"	"c.91C>A"	"r.(?)"	"p.(Leu31Met)"	""
"0000843417"	"00003366"	"70"	"91"	"0"	"91"	"0"	"c.91C>A"	"r.(?)"	"p.(Leu31Met)"	""
"0000843418"	"00003366"	"70"	"91"	"0"	"91"	"0"	"c.91C>A"	"r.(?)"	"p.(Leu31Met)"	""
"0000843419"	"00003366"	"70"	"103"	"0"	"103"	"0"	"c.103G>A"	"r.(?)"	"p.(Glu35Lys)"	""
"0000843420"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000843421"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000843422"	"00003366"	"70"	"604"	"0"	"604"	"0"	"c.604C>T"	"r.(?)"	"p.(Arg202Trp)"	""
"0000843423"	"00003366"	"70"	"658"	"0"	"658"	"0"	"c.658C>T"	"r.(?)"	"p.(Gln220*)"	""
"0000843424"	"00003366"	"70"	"500"	"0"	"500"	"0"	"c.500A>G"	"r.(?)"	"p.(Glu167Gly)"	""
"0000843425"	"00003366"	"70"	"500"	"0"	"500"	"0"	"c.500A>G"	"r.(?)"	"p.(Glu167Gly)"	""
"0000843472"	"00003366"	"90"	"886"	"0"	"886"	"0"	"c.886A>C"	"r.(?)"	"p.(Asn296His)"	""
"0000843473"	"00003366"	"90"	"602"	"0"	"602"	"0"	"c.602T>C"	"r.(?)"	"p.(Ile201Thr)"	""
"0000843476"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000843477"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000843478"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000843479"	"00003366"	"70"	"400"	"0"	"400"	"0"	"c.400C>G"	"r.(?)"	"p.(Leu134Val)"	""
"0000843480"	"00003366"	"70"	"590"	"0"	"615"	"0"	"c.590_615del"	"r.(?)"	"p.(Leu197Profs*26)"	""
"0000843481"	"00003366"	"70"	"590"	"0"	"615"	"0"	"c.590_615del"	"r.(?)"	"p.(Leu197Profs*26)"	""
"0000843482"	"00003366"	"70"	"620"	"0"	"620"	"0"	"c.620T>A"	"r.(?)"	"p.(Leu207His)"	""
"0000843483"	"00003366"	"70"	"287"	"0"	"298"	"0"	"c.287_298del"	"r.(?)"	"p.(Gln96_Asn99del)"	""
"0000843484"	"00003366"	"70"	"352"	"0"	"352"	"0"	"c.352G>C"	"r.(?)"	"p.(Asp118His)"	""
"0000843485"	"00003366"	"70"	"400"	"0"	"400"	"0"	"c.400C>G"	"r.(?)"	"p.(Leu134Val)"	""
"0000843486"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000843487"	"00003366"	"70"	"400"	"0"	"400"	"0"	"c.400C>G"	"r.(?)"	"p.(Leu134Val)"	""
"0000843488"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000843489"	"00003366"	"70"	"346"	"0"	"355"	"0"	"c.346_355dup"	"r.(?)"	"p.(Glu119Glyfs*116)"	""
"0000843490"	"00003366"	"70"	"91"	"0"	"91"	"0"	"c.91C>A"	"r.(?)"	"p.(Leu31Met)"	""
"0000843491"	"00003366"	"70"	"199"	"0"	"200"	"0"	"c.199_200del"	"r.(?)"	"p.(Leu67Valfs*164)"	""
"0000843492"	"00003366"	"70"	"199"	"0"	"200"	"0"	"c.199_200del"	"r.(?)"	"p.(Leu67Valfs*164)"	""
"0000843493"	"00003366"	"70"	"140"	"0"	"140"	"0"	"c.140G>A"	"r.(?)"	"p.(Arg47His)"	""
"0000843494"	"00003366"	"70"	"830"	"0"	"830"	"0"	"c.830C>T"	"r.(?)"	"p.(Thr277Met)"	""
"0000843495"	"00003366"	"70"	"454"	"0"	"454"	"0"	"c.454C>T"	"r.(?)"	"p.(Pro152Ser)"	""
"0000843496"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000843497"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000843498"	"00003366"	"70"	"934"	"0"	"934"	"0"	"c.934G>A"	"r.(?)"	"p.(Asp312Asn)"	""
"0000843499"	"00003366"	"70"	"934"	"0"	"934"	"0"	"c.934G>A"	"r.(?)"	"p.(Asp312Asn)"	""
"0000843500"	"00003366"	"70"	"352"	"0"	"352"	"0"	"c.352G>C"	"r.(?)"	"p.(Asp118His)"	""
"0000843501"	"00003366"	"70"	"419"	"0"	"419"	"0"	"c.419T>C"	"r.(?)"	"p.(Leu140Pro)"	""
"0000843502"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000843503"	"00003366"	"70"	"524"	"0"	"524"	"0"	"c.524del"	"r.(?)"	"p.(Ser175Thrfs*19)"	""
"0000843504"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000843505"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000843506"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000843513"	"00003366"	"70"	"452"	"0"	"452"	"0"	"c.452T>G"	"r.(?)"	"p.(Phe151Cys)"	""
"0000843514"	"00003366"	"70"	"452"	"0"	"452"	"0"	"c.452T>G"	"r.(?)"	"p.(Phe151Cys)"	""
"0000843515"	"00003366"	"90"	"478"	"0"	"478"	"0"	"c.478G>C"	"r.(?)"	"p.(Ala160Pro)"	""
"0000843516"	"00003366"	"90"	"478"	"0"	"478"	"0"	"c.478G>C"	"r.(?)"	"p.(Ala160Pro)"	""
"0000843647"	"00003366"	"70"	"521"	"0"	"522"	"0"	"c.521_522del"	"r.(?)"	"p.(Leu174Glnfs*57)"	"5"
"0000843651"	"00003366"	"70"	"44"	"0"	"44"	"0"	"c.44G>A"	"r.(?)"	"p.(Gly15Asp)"	""
"0000843659"	"00003366"	"70"	"103"	"0"	"103"	"0"	"c.103G>A"	"r.(?)"	"p.(Glu35Lys)"	""
"0000843660"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000843661"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000843662"	"00003366"	"70"	"671"	"0"	"671"	"0"	"c.671T>A"	"r.(?)"	"p.(Leu224Gln)"	""
"0000843663"	"00003366"	"70"	"418"	"0"	"418"	"0"	"c.418C>G"	"r.(?)"	"p.(Leu140Val)"	""
"0000843664"	"00003366"	"70"	"816"	"0"	"818"	"0"	"c.816_818delTGT"	"r.(?)"	"p.(Val273del)"	""
"0000843665"	"00003366"	"70"	"122"	"0"	"122"	"0"	"c.122T>C"	"r.(?)"	"p.(Leu41Pro)"	""
"0000843666"	"00003366"	"70"	"122"	"0"	"122"	"0"	"c.122T>C"	"r.(?)"	"p.(Leu41Pro)"	""
"0000843667"	"00003366"	"70"	"604"	"0"	"604"	"0"	"c.604C>T"	"r.(?)"	"p.(Arg202Trp)"	""
"0000843668"	"00003366"	"70"	"122"	"0"	"122"	"0"	"c.122T>C"	"r.(?)"	"p.(Leu41Pro)"	""
"0000843669"	"00003366"	"70"	"830"	"0"	"830"	"0"	"c.830C>T"	"r.(?)"	"p.(Thr277Met)"	""
"0000843670"	"00003366"	"70"	"830"	"0"	"830"	"0"	"c.830C>T"	"r.(?)"	"p.(Thr277Met)"	""
"0000843671"	"00003366"	"70"	"353"	"0"	"353"	"0"	"c.353A>C"	"r.(?)"	"p.(Asp118Ala)"	""
"0000843672"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000843673"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000843674"	"00003366"	"70"	"884"	"0"	"886"	"0"	"c.884_886del"	"r.(?)"	"p.(Ile295del)"	""
"0000843675"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	""
"0000843676"	"00003366"	"70"	"89"	"0"	"89"	"0"	"c.89A>G"	"r.(?)"	"p.(Lys30Arg)"	""
"0000843677"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	""
"0000843678"	"00003366"	"70"	"884"	"0"	"884"	"0"	"c.884T>C"	"r.(?)"	"p.(Ile295Thr)"	""
"0000843679"	"00003366"	"70"	"884"	"0"	"884"	"0"	"c.884T>C"	"r.(?)"	"p.(Ile295Thr)"	""
"0000843680"	"00003366"	"70"	"72"	"0"	"72"	"0"	"c.72G>T"	"r.(?)"	"p.(Trp24Cys)"	""
"0000843681"	"00003366"	"70"	"72"	"0"	"72"	"0"	"c.72G>T"	"r.(?)"	"p.(Trp24Cys)"	""
"0000843682"	"00003366"	"70"	"72"	"0"	"72"	"0"	"c.72G>T"	"r.(?)"	"p.(Trp24Cys)"	""
"0000843683"	"00003366"	"70"	"703"	"0"	"703"	"0"	"c.703G>T"	"r.(?)"	"p.(Val235Leu)"	""
"0000843684"	"00003366"	"70"	"703"	"0"	"703"	"0"	"c.703G>T"	"r.(?)"	"p.(Val235Leu)"	""
"0000843685"	"00003366"	"70"	"703"	"0"	"703"	"0"	"c.703G>T"	"r.(?)"	"p.(Val235Leu)"	""
"0000843686"	"00003366"	"70"	"703"	"0"	"703"	"0"	"c.703G>T"	"r.(?)"	"p.(Val235Leu)"	""
"0000843687"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	""
"0000843688"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	""
"0000843689"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	""
"0000843690"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000843691"	"00003366"	"70"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	""
"0000843692"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000843693"	"00003366"	"70"	"44"	"0"	"44"	"0"	"c.44G>A"	"r.(?)"	"p.(Gly15Asp)"	""
"0000843694"	"00003366"	"70"	"932"	"0"	"932"	"0"	"c.932T>G"	"r.(?)"	"p.(Val311Gly)"	""
"0000843695"	"00003366"	"70"	"400"	"0"	"400"	"0"	"c.400C>G"	"r.(?)"	"p.(Leu134Val)"	""
"0000843696"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000843697"	"00003366"	"70"	"884"	"0"	"886"	"0"	"c.884_886del"	"r.(?)"	"p.(Ile295del)"	""
"0000843698"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	""
"0000843699"	"00003366"	"70"	"884"	"0"	"886"	"0"	"c.884_886del"	"r.(?)"	"p.(Ile295del)"	""
"0000843700"	"00003366"	"70"	"397"	"0"	"397"	"0"	"c.397A>C"	"r.(?)"	"p.(Asn133His)"	""
"0000843701"	"00003366"	"70"	"889"	"0"	"889"	"0"	"c.889C>T"	"r.(?)"	"p.(Pro297Ser)"	""
"0000843702"	"00003366"	"70"	"884"	"0"	"884"	"0"	"c.884T>C"	"r.(?)"	"p.(Ile295Thr)"	""
"0000843703"	"00003366"	"70"	"779"	"0"	"779"	"0"	"c.779del"	"r.(?)"	"p.(Pro260Glnfs*29)"	""
"0000843704"	"00003366"	"70"	"37"	"0"	"37"	"0"	"c.37C>G"	"r.(?)"	"p.(Arg13Gly)"	""
"0000843705"	"00003366"	"70"	"934"	"0"	"934"	"0"	"c.934G>A"	"r.(?)"	"p.(Asp312Asn)"	""
"0000843706"	"00003366"	"70"	"400"	"0"	"400"	"0"	"c.400C>G"	"r.(?)"	"p.(Leu134Val)"	""
"0000843707"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000843708"	"00003366"	"70"	"712"	"0"	"712"	"0"	"c.712del"	"r.(?)"	"p.(Gln238Argfs*3)"	""
"0000843709"	"00003366"	"70"	"1315"	"0"	"1315"	"0"	"c.1315C>T"	"r.(?)"	"p.(Gln439*)"	""
"0000843710"	"00003366"	"70"	"779"	"0"	"779"	"0"	"c.779del"	"r.(?)"	"p.(Pro260Glnfs*29)"	""
"0000843719"	"00003366"	"70"	"903"	"0"	"903"	"0"	"c.903T>G"	"r.(?)"	"p.(Asp301Glu)"	""
"0000843720"	"00003366"	"70"	"903"	"0"	"903"	"0"	"c.903T>G"	"r.(?)"	"p.(Asp301Glu)"	""
"0000843722"	"00003366"	"70"	"37"	"0"	"37"	"0"	"c.37C>T"	"r.(?)"	"p.R13C"	"2"
"0000843723"	"00003366"	"70"	"102"	"0"	"102"	"0"	"c.102C>T"	"r.(?)"	"p.Gly34="	"2"
"0000843724"	"00003366"	"70"	"102"	"0"	"102"	"0"	"c.102C>T"	"r.(?)"	"p.Gly34="	"2"
"0000843725"	"00003366"	"70"	"287"	"0"	"298"	"0"	"c.287_298del"	"r.(?)"	"p.Gln96_Asn99del"	"4"
"0000843726"	"00003366"	"70"	"302"	"0"	"302"	"0"	"c.302C>T"	"r.(?)"	"p.Pro101Leu"	"4"
"0000843727"	"00003366"	"70"	"404"	"0"	"404"	"0"	"c.404G>A"	"r.(?)"	"p.Gly135Asp"	"4"
"0000843728"	"00003366"	"70"	"404"	"0"	"404"	"0"	"c.404G>A"	"r.(?)"	"p.Gly135Asp"	"4"
"0000843729"	"00003366"	"70"	"889"	"0"	"889"	"0"	"c.889C>T"	"r.(?)"	"p.Pro297Ser"	"8"
"0000843730"	"00003366"	"70"	"889"	"0"	"889"	"0"	"c.889C>T"	"r.(?)"	"p.Pro297Ser"	"8"
"0000843731"	"00003366"	"70"	"956"	"0"	"956"	"0"	"c.956T>C"	"r.(?)"	"p.Leu319Pro"	"9"
"0000843732"	"00003366"	"70"	"956"	"0"	"956"	"0"	"c.956T>C"	"r.(?)"	"p.Leu319Pro"	"9"
"0000843733"	"00003366"	"70"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255Trp)"	""
"0000843734"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000843735"	"00003366"	"70"	"910"	"0"	"912"	"0"	"c.910_912del"	"r.(?)"	"p.(Asp304del)"	""
"0000843736"	"00003366"	"70"	"310"	"0"	"310"	"0"	"c.310G>C"	"r.(?)"	"p.(Asp104His)"	""
"0000844381"	"00003366"	"70"	"680"	"0"	"680"	"0"	"c.680A>G"	"r.(?)"	"p.(Tyr227Cys)"	""
"0000846845"	"00003366"	"70"	"70"	"0"	"70"	"0"	"c.70T>C"	"r.(70u>c)"	"p.(Trp24Arg)"	""
"0000853056"	"00003366"	"30"	"1519"	"0"	"1519"	"0"	"c.1519T>C"	"r.(?)"	"p.(Ser507Pro)"	""
"0000853057"	"00003366"	"30"	"5167"	"0"	"5167"	"0"	"c.*3409G>A"	"r.(=)"	"p.(=)"	""
"0000862605"	"00003366"	"70"	"29"	"0"	"29"	"0"	"c.29C>T"	"r.(?)"	"p.(Ala10Val)"	""
"0000862606"	"00003366"	"50"	"424"	"0"	"424"	"0"	"c.424A>T"	"r.(?)"	"p.(Ser142Cys)"	""
"0000862607"	"00003366"	"30"	"1215"	"0"	"1215"	"0"	"c.1215G>A"	"r.(?)"	"p.(Arg405=)"	""
"0000862608"	"00003366"	"30"	"1699"	"0"	"1699"	"0"	"c.1699C>T"	"r.(?)"	"p.(Leu567Phe)"	""
"0000869969"	"00003366"	"70"	"970"	"0"	"970"	"0"	"c.970G>T"	"r.(?)"	"p.(Glu324*)"	""
"0000869970"	"00003366"	"70"	"1622"	"0"	"1622"	"0"	"c.1622del"	"r.(?)"	"p.(Leu541Argfs*68)"	""
"0000873366"	"00003366"	"70"	"102"	"0"	"102"	"0"	"c.102C>T"	"r.(?)"	"p.(Gly34=)"	""
"0000873367"	"00003366"	"70"	"102"	"0"	"102"	"0"	"c.102C>T"	"r.(?)"	"p.(Gly34=)"	""
"0000873368"	"00003366"	"70"	"-29"	"1"	"-29"	"1"	"c.-29+1G>T"	"r.spl"	"p.(?)"	""
"0000873369"	"00003366"	"70"	"1014"	"0"	"1014"	"0"	"c.1014G>A"	"r.(?)"	"p.(Trp338Ter)"	""
"0000873370"	"00003366"	"70"	"418"	"0"	"418"	"0"	"c.418C>G"	"r.(?)"	"p.(Leu140Val)"	""
"0000873371"	"00003366"	"70"	"454"	"0"	"454"	"0"	"c.454C>G"	"r.(?)"	"p.(Pro152Ala)"	""
"0000873372"	"00003366"	"70"	"122"	"0"	"122"	"0"	"c.122T>C"	"r.(?)"	"p.(Leu41Pro)"	""
"0000873373"	"00003366"	"70"	"454"	"0"	"454"	"0"	"c.454C>G"	"r.(?)"	"p.(Pro152Ala)"	""
"0000873374"	"00003366"	"70"	"598"	"0"	"598"	"0"	"c.598C>T"	"r.(?)"	"p.(Arg200Ter)"	""
"0000873375"	"00003366"	"70"	"287"	"0"	"298"	"0"	"c.287_298del"	"r.(?)"	"p.(Gln96_Asn99del)"	""
"0000873376"	"00003366"	"70"	"1038"	"0"	"1038"	"0"	"c.1038dupC"	"r.(?)"	"p.(Tyr347LeufsTer54)"	""
"0000873377"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000873378"	"00003366"	"70"	"636"	"1"	"636"	"1"	"c.636+1G>C"	"r.spl"	"p.(?)"	""
"0000873379"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000873380"	"00003366"	"70"	"1066"	"0"	"1066"	"0"	"c.1066C>T"	"r.(?)"	"p.(Arg356Ter)"	""
"0000873381"	"00003366"	"70"	"1066"	"0"	"1066"	"0"	"c.1066C>T"	"r.(?)"	"p.(Arg356Ter)"	""
"0000873382"	"00003366"	"70"	"468"	"0"	"468"	"0"	"c.468C>G"	"r.(?)"	"p.(His156Gln)"	""
"0000873383"	"00003366"	"70"	"1066"	"0"	"1066"	"0"	"c.1066C>T"	"r.(?)"	"p.(Arg356Ter)"	""
"0000873384"	"00003366"	"70"	"974"	"0"	"974"	"0"	"c.974T>C"	"r.(?)"	"p.(Met325Thr)"	""
"0000873385"	"00003366"	"70"	"29"	"0"	"29"	"0"	"c.29C>T"	"r.(?)"	"p.(Ala10Val)"	""
"0000873386"	"00003366"	"70"	"291"	"0"	"291"	"0"	"c.291C>G"	"r.(?)"	"p.(Tyr97Ter)"	""
"0000873387"	"00003366"	"70"	"74"	"0"	"74"	"0"	"c.74G>A"	"r.(?)"	"p.(Arg25Gln)"	""
"0000873388"	"00003366"	"70"	"530"	"0"	"530"	"0"	"c.530C>T"	"r.(?)"	"p.(Pro177Leu)"	""
"0000873389"	"00003366"	"70"	"1038"	"0"	"1038"	"0"	"c.1038dupC"	"r.(?)"	"p.(Tyr347LeufsTer54)"	""
"0000873390"	"00003366"	"70"	"728"	"0"	"728"	"0"	"c.728C>A"	"r.(?)"	"p.(Ala243Glu)"	""
"0000873391"	"00003366"	"70"	"418"	"0"	"418"	"0"	"c.418C>G"	"r.(?)"	"p.(Leu140Val)"	""
"0000873392"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000873393"	"00003366"	"70"	"572"	"0"	"572"	"0"	"c.572T>C"	"r.(?)"	"p.(Leu191Pro)"	""
"0000873394"	"00003366"	"70"	"1470"	"0"	"1471"	"0"	"c.1470_1471delCA"	"r.(?)"	"p.(His490GlnfsTer24)"	""
"0000873395"	"00003366"	"70"	"-29"	"1"	"-29"	"1"	"c.-29+1G>T"	"r.spl"	"p.(?)"	""
"0000873396"	"00003366"	"70"	"122"	"0"	"122"	"0"	"c.122T>C"	"r.(?)"	"p.(Leu41Pro)"	""
"0000873397"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000873398"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000873399"	"00003366"	"70"	"533"	"0"	"533"	"0"	"c.533A>C"	"r.(?)"	"p.(His178Pro)"	""
"0000873400"	"00003366"	"70"	"475"	"0"	"475"	"0"	"c.475C>T"	"r.(?)"	"p.(Gln159Ter)"	""
"0000873401"	"00003366"	"70"	"974"	"0"	"974"	"0"	"c.974T>C"	"r.(?)"	"p.(Met325Thr)"	""
"0000873402"	"00003366"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.0?"	""
"0000873403"	"00003366"	"70"	"550"	"0"	"550"	"0"	"c.550C>T"	"r.(?)"	"p.(Pro184Ser)"	""
"0000873404"	"00003366"	"70"	"602"	"0"	"602"	"0"	"c.602T>C"	"r.(?)"	"p.(Ile201Thr)"	""
"0000873405"	"00003366"	"70"	"602"	"0"	"602"	"0"	"c.602T>C"	"r.(?)"	"p.(Ile201Thr)"	""
"0000873406"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000873407"	"00003366"	"70"	"122"	"0"	"122"	"0"	"c.122T>C"	"r.(?)"	"p.(Leu41Pro)"	""
"0000873408"	"00003366"	"70"	"278"	"0"	"278"	"0"	"c.278G>A"	"r.(?)"	"p.(Trp93Ter)"	""
"0000873409"	"00003366"	"70"	"169"	"0"	"169"	"0"	"c.169G>T"	"r.(?)"	"p.(Glu57Ter)"	""
"0000873410"	"00003366"	"70"	"421"	"0"	"421"	"0"	"c.421C>A"	"r.(?)"	"p.(Arg141Ser)"	""
"0000873411"	"00003366"	"70"	"839"	"0"	"839"	"0"	"c.839A>C"	"r.(?)"	"p.(Gln280Pro)"	""
"0000881413"	"00003366"	"70"	"605"	"0"	"605"	"0"	"c.605G>A"	"r.(?)"	"p.(Arg202Gln)"	""
"0000881414"	"00003366"	"70"	"1067"	"0"	"1067"	"0"	"c.1067G>T"	"r.(?)"	"p.(Arg356Leu)"	""
"0000890003"	"00003366"	"50"	"128"	"0"	"128"	"0"	"c.128A>G"	"r.(?)"	"p.(Tyr43Cys)"	""
"0000890004"	"00003366"	"70"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000890005"	"00003366"	"10"	"1070"	"0"	"1070"	"0"	"c.1070C>T"	"r.(?)"	"p.(Ala357Val)"	""
"0000890006"	"00003366"	"50"	"1296"	"0"	"1296"	"0"	"c.1296C>T"	"r.(?)"	"p.(Ala432=)"	""
"0000896518"	"00003366"	"70"	"214"	"0"	"214"	"0"	"c.214T>C"	"r.(?)"	"p.(Tyr72His)"	""
"0000896577"	"00003366"	"70"	"25"	"0"	"25"	"0"	"c.25G>A"	"r.(?)"	"p.(Val9Met)"	""
"0000896588"	"00003366"	"70"	"478"	"0"	"478"	"0"	"c.478G>C"	"r.(?)"	"p.(Ala160Pro)"	""
"0000896639"	"00003366"	"70"	"35"	"0"	"35"	"0"	"c.35C>A"	"r.(?)"	"p.(Ala12Asp)"	""
"0000905851"	"00003366"	"90"	"874"	"0"	"874"	"0"	"c.874G>A"	"r.(?)"	"p.(Glu292Lys)"	""
"0000905852"	"00003366"	"90"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	""
"0000905853"	"00003366"	"90"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Arg218Cys)"	""
"0000913628"	"00003366"	"30"	"152"	"8"	"152"	"8"	"c.152+8T>C"	"r.(=)"	"p.(=)"	""
"0000916028"	"00003366"	"70"	"1101"	"-1"	"1101"	"-1"	"c.1101-1G>A"	"r.spl?"	"p.(?)"	"9i"
"0000916045"	"00003366"	"70"	"704"	"0"	"704"	"0"	"c.704T>C"	"r.(?)"	"p.(Val235Ala)"	"6"
"0000916061"	"00003366"	"90"	"682"	"0"	"682"	"0"	"c.682G>A"	"r.(?)"	"p.(Asp228Asn)"	"6"
"0000916136"	"00003366"	"90"	"682"	"0"	"682"	"0"	"c.682G>A"	"r.(?)"	"p.(Asp228Asn)"	"6"
"0000916548"	"00003366"	"90"	"388"	"0"	"388"	"0"	"c.388C>A"	"r.(?)"	"p.(Arg130Ser)"	"4"
"0000916553"	"00003366"	"70"	"521"	"0"	"522"	"0"	"c.521_522del"	"r.(?)"	"p.(Leu174Glnfs*57)"	"5"
"0000929928"	"00003366"	"50"	"479"	"0"	"479"	"0"	"c.479C>G"	"r.(?)"	"p.(Ala160Gly)"	""
"0000929929"	"00003366"	"30"	"495"	"0"	"495"	"0"	"c.495G>A"	"r.(?)"	"p.(=)"	""
"0000929930"	"00003366"	"70"	"920"	"0"	"920"	"0"	"c.920C>A"	"r.(?)"	"p.(Thr307Asn)"	""
"0000933614"	"00003366"	"90"	"851"	"0"	"851"	"0"	"c.851A>G"	"r.(?)"	"p.(Tyr284Cys)"	""
"0000949722"	"00003366"	"70"	"272"	"0"	"272"	"0"	"c.272C>T"	"r.(?)"	"p.(Thr91Ile)"	""
"0000949723"	"00003366"	"70"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000949724"	"00003366"	"50"	"1014"	"0"	"1014"	"0"	"c.1014G>C"	"r.(?)"	"p.(Trp338Cys)"	""
"0000949725"	"00003366"	"50"	"1015"	"0"	"1015"	"0"	"c.1015A>T"	"r.(?)"	"p.(Asn339Tyr)"	""
"0000949726"	"00003366"	"30"	"1305"	"0"	"1305"	"0"	"c.1305C>T"	"r.(?)"	"p.(=)"	""
"0000949727"	"00003366"	"30"	"1669"	"0"	"1669"	"0"	"c.1669G>A"	"r.(?)"	"p.(Glu557Lys)"	""
"0000949728"	"00003366"	"30"	"1739"	"74"	"1739"	"74"	"c.1739+74C>A"	"r.(=)"	"p.(=)"	""
"0000954790"	"00003366"	"90"	"20"	"0"	"20"	"0"	"c.20G>A"	"r.(?)"	"p.(Ser7Asn)"	""
"0000954791"	"00003366"	"90"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000957436"	"00003366"	"90"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000957437"	"00003366"	"90"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000957479"	"00003366"	"90"	"20"	"0"	"20"	"0"	"c.20G>A"	"r.(?)"	"p.(Ser7Asn)"	"2i"
"0000957480"	"00003366"	"90"	"20"	"0"	"20"	"0"	"c.20G>A"	"r.(?)"	"p.(Ser7Asn)"	"2i"
"0000958008"	"00003366"	"90"	"713"	"0"	"713"	"0"	"c.713A>G"	"r.(?)"	"p.(Gln238Arg)"	""
"0000958097"	"00003366"	"90"	"703"	"0"	"703"	"0"	"c.703G>T"	"r.(?)"	"p.(Val235Leu)"	""
"0000958099"	"00003366"	"90"	"693"	"0"	"693"	"0"	"c.693T>A"	"r.(?)"	"p.(Ser231Arg)"	""
"0000958100"	"00003366"	"90"	"684"	"0"	"684"	"0"	"c.684C>G"	"r.(?)"	"p.(Asp228Glu)"	""
"0000958101"	"00003366"	"90"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	""
"0000958102"	"00003366"	"90"	"297"	"0"	"297"	"0"	"c.297C>A"	"r.(?)"	"p.(Asn99Lys)"	""
"0000958103"	"00003366"	"70"	"182"	"0"	"182"	"0"	"c.182del"	"r.(?)"	"p.(Met61SerfsTer5)"	""
"0000958104"	"00003366"	"70"	"665"	"0"	"665"	"0"	"c.665G>T"	"r.(?)"	"p.(Gly222Val)"	""
"0000958105"	"00003366"	"90"	"1315"	"0"	"1315"	"0"	"c.1315C>T"	"r.(?)"	"p.(Gln439Ter)"	""
"0000958106"	"00003366"	"70"	"910"	"0"	"912"	"0"	"c.910_912del"	"r.(?)"	"p.(Asp304del)"	""
"0000958107"	"00003366"	"70"	"874"	"0"	"874"	"0"	"c.874G>A"	"r.(?)"	"p.(Glu292Lys)"	""
"0000958214"	"00003366"	"90"	"779"	"0"	"779"	"0"	"c.779del"	"r.(?)"	"p.(Pro260GlnfsTer29)"	""
"0000958366"	"00003366"	"90"	"287"	"0"	"298"	"0"	"c.287_298del"	"r.(?)"	"p.(Gln96_Asn99del)"	""
"0000958477"	"00003366"	"90"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000958478"	"00003366"	"70"	"910"	"0"	"912"	"0"	"c.910_912del"	"r.(?)"	"p.(Asp304del)"	""
"0000958583"	"00003366"	"90"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	""
"0000958863"	"00003366"	"50"	"277"	"0"	"283"	"0"	"c.277_283delinsCGGTTGG"	"r.(?)"	"p.(Trp93_Asn95delinsArgLeuAsp)"	""
"0000959468"	"00003366"	"90"	"139"	"0"	"139"	"0"	"c.139C>T"	"r.(?)"	"p.(Arg47Cys)"	""
"0000966450"	"00003366"	"70"	"905"	"0"	"905"	"0"	"c.905A>C"	"r.(?)"	"p.(Asp302Ala)"	""
"0000979689"	"00003366"	"90"	"422"	"0"	"422"	"0"	"c.422G>A"	"r.(?)"	"p.(Arg141His)"	""
"0000979690"	"00003366"	"50"	"599"	"0"	"599"	"0"	"c.599G>A"	"r.(?)"	"p.(Arg200Gln)"	""
"0000979691"	"00003366"	"90"	"679"	"0"	"679"	"0"	"c.679T>A"	"r.(?)"	"p.(Tyr227Asn)"	""
"0000979692"	"00003366"	"50"	"804"	"0"	"804"	"0"	"c.804G>C"	"r.(?)"	"p.(Glu268Asp)"	""
"0000986293"	"00003366"	"90"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	"7"
"0000986294"	"00003366"	"90"	"598"	"0"	"598"	"0"	"c.598C>T"	"r.(?)"	"p.(Arg200Ter)"	"5"
"0000986295"	"00003366"	"50"	"1037"	"0"	"1037"	"0"	"c.1037C>A"	"r.(?)"	"p.(Pro346His)"	"9"
"0000986296"	"00003366"	"70"	"478"	"0"	"478"	"0"	"c.478G>C"	"r.(?)"	"p.(Ala160Pro)"	"4"
"0000986297"	"00003366"	"90"	"1444"	"0"	"1444"	"0"	"c.1444del"	"r.(?)"	"p.(Glu482AsnfsTer14)"	"10"
"0000986298"	"00003366"	"70"	"404"	"0"	"404"	"0"	"c.404G>A"	"r.(?)"	"p.(Gly135Asp)"	"4"
"0000986299"	"00003366"	"70"	"1739"	"207"	"1739"	"207"	"c.1739+207C>G"	"r.(?)"	"p.?"	""
"0000986300"	"00003366"	"90"	"275"	"0"	"275"	"0"	"c.275G>A"	"r.(?)"	"p.(Arg92His)"	"4"
"0000986301"	"00003366"	"90"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Arg218His)"	"6"
"0000986872"	"00003366"	"90"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Ala195Val)"	"5"
"0000986886"	"00003366"	"70"	"404"	"0"	"404"	"0"	"c.404G>A"	"r.(?)"	"p.(Gly135Asp)"	"4"
"0000987300"	"00003366"	"90"	"302"	"0"	"302"	"0"	"c.302C>G"	"r.(?)"	"p.(Pro101Arg)"	""
"0001014848"	"00003366"	"50"	"217"	"0"	"217"	"0"	"c.217A>C"	"r.(?)"	"p.(Ile73Leu)"	""
"0001022310"	"00003366"	"70"	"373"	"0"	"373"	"0"	"c.373C>G"	"r.(?)"	"p.(Arg125Gly)"	""
"0001026038"	"00003366"	"70"	"400"	"0"	"400"	"0"	"c.400C>G"	"r.(?)"	"p.(Leu134Val)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2139
"{{screeningid}}"	"{{variantid}}"
"0000000102"	"0000842927"
"0000000102"	"0000842929"
"0000033230"	"0000059530"
"0000033238"	"0000059529"
"0000100491"	"0000735182"
"0000156256"	"0000358178"
"0000156257"	"0000358179"
"0000208717"	"0000438657"
"0000208723"	"0000438666"
"0000234301"	"0000477009"
"0000234302"	"0000477010"
"0000234303"	"0000477011"
"0000234304"	"0000477012"
"0000234305"	"0000477013"
"0000234306"	"0000477014"
"0000234307"	"0000477015"
"0000234308"	"0000477016"
"0000234872"	"0000477580"
"0000265013"	"0000595592"
"0000291627"	"0000648316"
"0000291628"	"0000648317"
"0000297108"	"0000659724"
"0000301740"	"0000664807"
"0000301742"	"0000664810"
"0000307042"	"0000673636"
"0000307089"	"0000673654"
"0000309561"	"0000684426"
"0000309626"	"0000684499"
"0000309627"	"0000684500"
"0000309628"	"0000684501"
"0000309629"	"0000684502"
"0000309630"	"0000684503"
"0000309631"	"0000684504"
"0000309632"	"0000684505"
"0000309746"	"0000684619"
"0000309747"	"0000684620"
"0000309778"	"0000684651"
"0000309819"	"0000684692"
"0000309880"	"0000684782"
"0000310117"	"0000685028"
"0000310117"	"0000685573"
"0000310118"	"0000685029"
"0000310119"	"0000685030"
"0000310120"	"0000685031"
"0000310121"	"0000685032"
"0000310122"	"0000685033"
"0000310123"	"0000685034"
"0000310124"	"0000685035"
"0000310125"	"0000685036"
"0000310126"	"0000685037"
"0000310127"	"0000685038"
"0000310128"	"0000685039"
"0000310129"	"0000685040"
"0000310130"	"0000685041"
"0000326663"	"0000710255"
"0000329406"	"0000713529"
"0000329468"	"0000713591"
"0000329641"	"0000713989"
"0000329642"	"0000713990"
"0000329643"	"0000713991"
"0000333182"	"0000730606"
"0000333183"	"0000730607"
"0000333184"	"0000730608"
"0000333185"	"0000730609"
"0000333185"	"0000730788"
"0000333186"	"0000730610"
"0000333186"	"0000730789"
"0000333233"	"0000730657"
"0000333234"	"0000730658"
"0000333235"	"0000730659"
"0000333236"	"0000730660"
"0000333237"	"0000730661"
"0000333238"	"0000730662"
"0000333239"	"0000730663"
"0000333240"	"0000730664"
"0000333241"	"0000730665"
"0000333242"	"0000730666"
"0000333243"	"0000730667"
"0000333244"	"0000730668"
"0000333245"	"0000730669"
"0000333246"	"0000730670"
"0000333728"	"0000731491"
"0000333728"	"0000731515"
"0000334711"	"0000732709"
"0000334908"	"0000732915"
"0000334909"	"0000732916"
"0000334910"	"0000732917"
"0000334911"	"0000732918"
"0000334912"	"0000732919"
"0000334913"	"0000732920"
"0000334914"	"0000732921"
"0000334915"	"0000732922"
"0000334916"	"0000732923"
"0000334917"	"0000732924"
"0000334918"	"0000732925"
"0000334919"	"0000732926"
"0000334920"	"0000732927"
"0000334921"	"0000732928"
"0000334922"	"0000732929"
"0000334923"	"0000732930"
"0000334924"	"0000732931"
"0000334925"	"0000732932"
"0000335337"	"0000733346"
"0000335337"	"0000733724"
"0000335489"	"0000733498"
"0000335489"	"0000733872"
"0000335490"	"0000733499"
"0000335490"	"0000733873"
"0000335491"	"0000733500"
"0000335491"	"0000733874"
"0000335492"	"0000733501"
"0000335492"	"0000733875"
"0000335493"	"0000733502"
"0000335494"	"0000733503"
"0000335494"	"0000733876"
"0000335639"	"0000734333"
"0000335799"	"0000734711"
"0000336318"	"0000735593"
"0000336319"	"0000735594"
"0000336461"	"0000735836"
"0000336656"	"0000736101"
"0000336675"	"0000736162"
"0000336676"	"0000736163"
"0000336676"	"0000736164"
"0000336703"	"0000736193"
"0000336704"	"0000736194"
"0000336705"	"0000736195"
"0000336706"	"0000736196"
"0000336978"	"0000736558"
"0000336979"	"0000736519"
"0000337065"	"0000736630"
"0000337066"	"0000736631"
"0000359946"	"0000759577"
"0000359946"	"0000759613"
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