### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = BBS1)
# 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}}"
"BBS1"	"Bardet-Biedl syndrome 1"	"11"	"q13"	"unknown"	"NG_009093.1"	"UD_130216897378"	""	"https://www.LOVD.nl/BBS1"	""	"1"	"966"	"582"	"209901"	"1"	"1"	"1"	"1"	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font><br>Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project."	""	"g"	"https://databases.lovd.nl/shared/refseq/BBS1_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>"	"-1"	""	"-1"	"00002"	"2013-02-13 00:00:00"	"00006"	"2020-04-23 14:42:40"	"00000"	"2026-01-20 18:57:21"


## 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}}"
"00000196"	"BBS1"	"Bardet-Biedl syndrome 1"	"001"	"NM_024649.4"	""	"NP_078925.3"	""	""	""	"-12"	"3358"	"1782"	"66278119"	"66301084"	"00002"	"2012-05-11 13:12:24"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 15
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00000"	"Healthy/Control"	"Healthy individual / control"	""	""	""	""	""	"00000"	"2012-07-26 17:29:43"	""	""
"00058"	"CORD"	"dystrophy, cone-rod (CORD)"	""	""	""	""	""	"00006"	"2012-09-22 11:31:25"	"00006"	"2020-08-30 09:43:59"
"00089"	"BBS1"	"Bardet-Biedl syndrome, type 1 (BBS-1)"	"AR;DR"	"209900"	""	""	""	"00015"	"2012-11-26 09:02:23"	"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"
"00139"	"ID"	"intellectual disability (ID)"	""	""	""	""	""	"00084"	"2013-06-04 18:18:07"	"00006"	"2015-02-09 10:02:49"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"01371"	"HD"	"Huntington disease (HD)"	"AD"	"143100"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"04212"	"BBS"	"Bardet-Biedl syndrome (BBS)"	""	""	""	""	""	"00006"	"2015-02-27 19:01:43"	""	""
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"
"05086"	"HL"	"hearing loss (HL)"	""	""	""	""	""	"00006"	"2015-10-23 11:41:05"	"00006"	"2015-10-23 11:43:00"
"05109"	"JBTS"	"Joubert syndrome (JBTS)"	""	""	""	""	""	"00006"	"2016-01-09 00:37:44"	""	""
"05121"	"MD"	"dystrophy, muscular (MD)"	""	""	""	""	""	"00006"	"2016-01-24 01:27:29"	""	""
"05207"	"OCA1"	"albinism, oculocutaneous, type I (OCA-1)"	""	""	""	""	""	"00006"	"2016-12-02 17:47:10"	"00006"	"2021-12-11 13:56:28"
"05611"	"NDD"	"neurodevelopmental disorder (NDD)"	""	""	""	""	""	"00006"	"2019-06-19 12:27:20"	"00006"	"2024-12-13 11:12:21"
"06892"	"NPHP"	"nephronophthisis"	""	""	""	""	""	"00006"	"2022-01-23 12:29:57"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"BBS1"	"00089"
"BBS1"	"00139"


## Individuals ## Do not remove or alter this header ##
## Count = 473
"{{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}}"
"00000029"	""	""	""	"1"	""	"00004"	"{PMID:Almomani 2011:21102627}"	""	""	""	""	""	"0"	""	""	""	""
"00000070"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00001787"	""	""	""	"1"	""	"00102"	""	""	""	""	"(United States)"	""	"0"	""	""	""	""
"00001788"	""	""	""	"1"	""	"00102"	""	""	""	""	"(United States)"	""	"0"	""	""	""	""
"00081102"	""	""	""	"1"	""	"01763"	"Haer-Wigman 2016"	""	"?"	"no"	""	""	"0"	""	""	""	""
"00081418"	""	""	""	"1"	""	"01706"	"Kay, submitted EJHG"	""	""	""	"Peru"	""	"0"	""	""	""	""
"00081419"	""	""	""	"1"	""	"01706"	"Kay, submitted EJHG"	""	""	""	"Peru"	""	"0"	""	""	""	""
"00088150"	""	""	""	"1"	""	"00004"	""	"4-generation family, 1 affected"	""	""	"Spain"	""	"0"	""	""	""	""
"00144157"	""	""	""	"1"	""	"01780"	"{PMID:Katagiri 2014:25268133}"	"index patient"	"M"	"no"	"Japan"	""	"0"	""	""	"Japanese"	""
"00155382"	""	""	""	"3"	""	"01243"	"{PMID:Sharon 2019:31456290}"	"family"	"M"	"yes"	"Israel"	""	"0"	""	""	"Arab-Muslim"	"MOL0391"
"00155383"	""	""	""	"4"	""	"01243"	"{PMID:Sharon 2015:26261414}, {PMID:Beryozkin 2015:26306921}, {PMID:Sharon 2019:31456290}"	""	"M"	"yes"	"Israel"	""	"0"	""	""	"Arab-Muslim"	"MOL0745"
"00155384"	""	""	""	"1"	""	"01243"	"Sharon, submitted"	""	"M"	"yes"	"Israel"	""	"0"	""	""	"Morocco;Jewish"	""
"00207813"	""	""	""	"1"	""	"00006"	"{PMID:Tavares 2018:30484961}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	"no"	"Canada"	""	"0"	""	""	""	"30484961-Fam"
"00233218"	""	""	""	"7"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233219"	""	""	""	"5"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233220"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233221"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233222"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233223"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233224"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233225"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233226"	""	""	""	"3"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233227"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233228"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233229"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233230"	""	""	""	"4"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233231"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233232"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233233"	""	""	""	"20"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00269434"	""	""	""	"1"	""	"03508"	""	""	"F"	""	"Korea"	""	"0"	""	""	""	""
"00290481"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00290482"	""	""	""	"4"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00308475"	""	""	""	"2"	""	"00004"	"{PMID:Holtan 2020:31429209}"	"2 patients with variant in heterozygous or compound heterozygous form"	""	""	"Norway"	""	"0"	""	""	""	""
"00308637"	""	""	""	"4"	""	"00004"	"{PMID:Holtan 2020:31429209}"	"4 homozygous patients"	""	""	"Norway"	""	"0"	""	""	""	""
"00308953"	""	""	""	"2"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"2 IRD families"	""	""	"Israel"	""	"0"	""	""	""	""
"00308954"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00308955"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00308956"	""	""	""	"2"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"2 IRD families"	""	""	"Israel"	""	"0"	""	""	""	""
"00327395"	""	""	""	"2"	""	"03980"	"Doucette 2021, submitted"	"affected male of a 3 sibling family, 2 affected brothers, 1 unaffected sister, parents both unaffected indicating likely recessive inheritance, or X-linked given the sex difference"	"M"	"no"	"Canada"	""	"0"	""	""	""	"M59 II-1"
"00327398"	""	""	"00327395"	"1"	""	"03980"	"Doucette 2021, submitted"	"affected sibling in a 3 generation family, two affected brothers, one unaffected sister, parents are unaffected indicating either X-linked or autosomal recessive modes of inheritance"	"M"	"no"	"Canada"	""	"0"	"Yes"	""	""	"M59 II-2"
"00327930"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"B240051"
"00327941"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"B240073"
"00327963"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"B240272"
"00328072"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Europe"	"G004718"
"00328083"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Europe"	"G005000"
"00328189"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Europe"	"G007690"
"00328217"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Europe"	"G007741"
"00328483"	""	""	""	"1"	""	"00000"	"{PMID:Taylor 2017:28341476}"	"family history retinal disease"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"15002227"
"00328505"	""	""	""	"1"	""	"00000"	"{PMID:Taylor 2017:28341476}"	"no family history retinal disease"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"14002664"
"00331734"	""	""	""	"1"	""	"00000"	"{PMID:Sanchez-Navarro 2018:29588463}"	""	""	""	"Spain"	""	"0"	""	""	""	"RP-2228"
"00332193"	""	""	""	"1"	""	"00000"	"{PMID:Bryant 2018:29343940}"	""	""	""	"United States"	""	"0"	""	""	""	"JB274"
"00332200"	""	""	""	"1"	""	"00000"	"{PMID:Bryant 2018:29343940}"	""	""	""	"United States"	""	"0"	""	""	""	"JB307"
"00332210"	""	""	""	"1"	""	"00000"	"{PMID:Bryant 2018:29343940}"	""	""	""	"United States"	""	"0"	""	""	""	"JB284"
"00333396"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2017:28838317}"	""	""	""	"United States"	""	"0"	""	""	""	"RD6–01"
"00333807"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"3"
"00333808"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"4"
"00333809"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"5"
"00333891"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"258"
"00333892"	""	""	""	"2"	""	"00000"	"{PMID:Stone 2017:28559085}"	"family, 2 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"259"
"00333920"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"343"
"00334069"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"598"
"00334070"	""	""	""	"2"	""	"00000"	"{PMID:Stone 2017:28559085}"	"family, 2 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"599"
"00334071"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"600"
"00334072"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"601"
"00334073"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"602"
"00334074"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"603"
"00334075"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"604"
"00334076"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"605"
"00334077"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"606"
"00334078"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"607"
"00334079"	""	""	""	"4"	""	"00000"	"{PMID:Stone 2017:28559085}"	"family, 4 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"608"
"00334080"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"609"
"00334081"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"610"
"00335083"	""	""	""	"1"	""	"00000"	"{PMID:Haer-Wigman 2017:28224992}"	"patient"	""	"no"	"Netherlands"	""	"0"	""	""	""	"1845"
"00335084"	""	""	""	"1"	""	"00000"	"{PMID:Haer-Wigman 2017:28224992}"	"patient"	""	"no"	"Netherlands"	""	"0"	""	""	""	"8355"
"00335085"	""	""	""	"1"	""	"00000"	"{PMID:Haer-Wigman 2017:28224992}"	"patient"	""	"no"	"Netherlands"	""	"0"	""	""	""	"9834"
"00358719"	""	""	""	"1"	""	"00000"	"{PMID:Carrigan 2016:27624628}"	""	""	""	"Ireland"	""	"0"	""	""	""	""
"00358810"	""	""	""	"1"	""	"00000"	"{PMID:Lindstrand 2016:27486776}"	""	"F"	"no"	"United States"	""	"0"	""	""	""	"AR380-03"
"00358811"	""	""	""	"1"	""	"00000"	"{PMID:Lindstrand 2016:27486776}"	""	"M"	"no"	"United States"	""	"0"	""	""	""	"AR888-0311"
"00358812"	""	""	""	"1"	""	"00000"	"{PMID:Lindstrand 2016:27486776}"	""	"F"	"no"	"United States"	""	"0"	""	""	""	"AR240-03"
"00358813"	""	""	""	"1"	""	"00000"	"{PMID:Lindstrand 2016:27486776}"	""	"M"	"no"	"United States"	""	"0"	""	""	""	"AR246-03"
"00358861"	""	""	""	"4"	""	"00000"	"{PMID:Suzuki 2016:27434533}"	"4-generstion family, 4 affected (F, 3M)"	"M"	"yes"	"Oman"	""	"0"	""	""	""	"Fam19PatIV6"
"00358871"	""	""	"00358861"	"1"	""	"00000"	"{PMID:Suzuki 2016:27434533}"	"sibling"	""	"yes"	"Oman"	""	"0"	""	""	""	"Fam19Pat2"
"00358947"	""	""	""	"1"	""	"00000"	"{PMID:Tiwari 2016:27353947}"	"see paper"	"F"	""	"Switzerland"	""	"0"	""	""	""	"Case71472"
"00358968"	""	""	""	"1"	""	"00000"	"{PMID:Tiwari 2016:27353947}"	"see paper"	"F"	""	"Switzerland"	""	"0"	""	""	""	"Case29303"
"00359024"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"familial segregation analysis requested"	""	""	""	""	"0"	""	""	""	"12003699"
"00359025"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"familial segregation analysis requested"	""	""	""	""	"0"	""	""	""	"13013491"
"00359026"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"familial segregation analysis requested"	""	""	""	""	"0"	""	""	""	"13000497"
"00359369"	""	""	""	"1"	""	"00000"	"{PMID:Bravo-Gil 2016:27032803}"	"see paper"	""	""	"Spain"	""	"0"	""	""	""	"95"
"00359372"	""	""	""	"1"	""	"00000"	"{PMID:Bravo-Gil 2016:27032803}"	"see paper"	""	""	"Spain"	""	"0"	""	""	""	"488"
"00362059"	""	""	""	"1"	""	"04043"	"{PMID:Fadaie 2022:33910932}"	"2-generation family, 1 affected, unaffected heterozygous carrier mother/sister"	"M"	"no"	"Netherlands"	""	"0"	""	""	""	"FamAPatII2"
"00362060"	""	""	""	"1"	""	"04043"	"{PMID:Fadaie 2022:33910932}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"no"	"Netherlands"	""	"0"	""	""	""	"FamBPatII1"
"00362061"	""	""	""	"1"	""	"04043"	"{PMID:Fadaie 2022:33910932}"	""	"M"	"no"	"Ireland"	""	"0"	""	""	""	"FamCPatII1"
"00362062"	""	""	""	"1"	""	"04043"	"{PMID:Fadaie 2022:33910932}"	"2-generation family, 1 affected, unaffected heterozygous carrier mother"	"F"	"no"	"England"	""	"0"	""	""	""	"FamDPatII1"
"00363426"	""	""	""	"1"	""	"00000"	"{PMID:Ece Solmaz 2015:26518167}"	"patient"	""	""	"Turkey"	""	"0"	""	""	""	"Pat2"
"00363427"	""	""	""	"1"	""	"00000"	"{PMID:Ece Solmaz 2015:26518167}"	"patient"	""	""	"Turkey"	""	"0"	""	""	""	"Pat3"
"00363429"	""	""	""	"1"	""	"00000"	"{PMID:Ece Solmaz 2015:26518167}"	"patient"	""	""	"Turkey"	""	"0"	""	""	""	"Pat5"
"00373367"	""	""	""	"1"	""	"00000"	"{PMID:Van Huet 2015:25999674}"	""	""	""	"Netherlands"	""	"0"	""	""	""	""
"00373822"	""	""	""	"5"	""	"00000"	"{PMID:Méndez-Vidal 2014:25494902}"	"4-generation family, 5 affected (4F, M), 4 RP/1 BBS"	"F"	""	"Spain"	""	"0"	""	""	""	"FamRP368PatIII8"
"00373824"	""	""	"00373822"	"1"	""	"00006"	"{PMID:Méndez-Vidal 2014:25494902}"	""	"F"	""	"Spain"	""	"0"	""	""	""	"FamRP368PatIV2"
"00373850"	""	""	""	"1"	""	"00000"	"{PMID:Zhao 2015:25472526}"	"family"	""	""	"Northern Ireland"	""	"0"	""	""	""	"Rp124"
"00373880"	""	""	""	"1"	""	"00000"	"{PMID:Consugar 2015:25412400}"	""	""	""	"United States"	""	"0"	""	""	""	"OGI-431-918"
"00373936"	""	""	""	"1"	""	"00000"	"{PMID:Consugar 2015:25412400}"	""	""	""	"United States"	""	"0"	""	""	""	"OGI-309-723"
"00374982"	""	""	"00374981"	"1"	""	"00000"	"{PMID:Sanchez-Alcudia 2014:25342620}"	"aunt"	"F"	""	"Spain"	""	"0"	""	""	""	"RP-0622PatII7"
"00376798"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"M"	""	"United States"	""	"0"	""	""	""	"65"
"00379347"	""	""	""	"1"	""	"00000"	"{PMID:Harville-2010:19797195}"	""	""	"yes"	"Turkey"	""	"0"	""	""	""	""
"00379348"	""	""	""	"1"	""	"00000"	"{PMID:Harville-2010:19797195}"	""	""	"yes"	"Saudi Arabia"	""	"0"	""	""	""	""
"00379349"	""	""	""	"1"	""	"00000"	"{PMID:Harville-2010:19797195}"	""	""	"yes"	"Saudi Arabia"	""	"0"	""	""	""	""
"00379350"	""	""	""	"1"	""	"00000"	"{PMID:Harville-2010:19797195}"	""	""	"no"	""	""	"0"	""	""	"North European"	""
"00379351"	""	""	""	"1"	""	"00000"	"{PMID:Harville-2010:19797195}"	""	""	"no"	""	""	"0"	""	""	"North European"	""
"00379352"	""	""	""	"1"	""	"00000"	"{PMID:Harville-2010:19797195}"	""	""	"yes"	""	""	"0"	""	""	"North European"	""
"00379353"	""	""	""	"1"	""	"00000"	"{PMID:Harville-2010:19797195}"	""	""	"yes"	""	""	"0"	""	""	"North European"	""
"00379561"	""	""	""	"1"	""	"00000"	"{PMID:O\'Sullivan-2012:22581970}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00379572"	""	""	""	"1"	""	"00000"	"{PMID:O\'Sullivan-2012:22581970}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00379666"	""	""	""	"1"	""	"03508"	""	""	"F"	""	"Korea, South (Republic)"	""	""	""	""	""	"IR_GH_0051"
"00380195"	""	""	""	"1"	""	"00000"	"{PMID:Ezquerra-Inchausti 2018:30337596}"	"Family RP196, II:1"	"?"	"no"	"Spain"	""	"0"	""	""	""	"II:1"
"00380362"	""	""	""	"1"	""	"00000"	"{PMID:M\'hamdi_2014:23432027}"	""	"F"	"yes"	"Tunisia"	""	"0"	""	""	"Tunisian"	""
"00380363"	""	""	""	"1"	""	"00000"	"{PMID:M\'hamdi_2014:23432027}"	""	"M"	"yes"	"Tunisia"	""	"0"	""	""	"Tunisian"	""
"00381230"	""	""	""	"1"	""	"00008"	"{PMID:Wang-2013:23847139}"	"patient carry mutation known cause other retinal diseases. BBS"	""	"no"	""	""	"0"	""	""	""	""
"00381701"	""	""	""	"1"	""	"00000"	"{PMID:Wang-2014:24154662}"	""	""	"no"	""	""	"0"	""	""	""	""
"00381702"	""	""	""	"1"	""	"00000"	"{PMID:Wang-2014:24154662}"	""	""	"no"	""	""	"0"	""	""	""	""
"00382212"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"41"
"00382213"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"42"
"00382214"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"43"
"00382481"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"343"
"00382482"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"344"
"00382483"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"345"
"00382484"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"346"
"00382485"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"347"
"00382600"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"462"
"00383058"	""	""	""	"1"	""	"00000"	"{PMID:Anasagasti-2013:24416769}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00383074"	""	""	""	"1"	""	"00000"	"{PMID:Anasagasti-2013:24416769}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00383104"	""	""	""	"1"	""	"00000"	"{PMID:Hichri-2005:15770229}"	""	""	""	"France"	""	"0"	""	""	"white"	""
"00383105"	""	""	""	"1"	""	"00000"	"{PMID:Hichri-2005:15770229}"	""	""	""	"France"	""	"0"	""	""	"white"	""
"00383106"	""	""	""	"1"	""	"00000"	"{PMID:Hichri-2005:15770229}"	""	""	""	"France"	""	"0"	""	""	"white"	""
"00383107"	""	""	""	"1"	""	"00000"	"{PMID:Hichri-2005:15770229}"	""	""	""	"France"	""	"0"	""	""	"white"	""
"00383108"	""	""	""	"1"	""	"00000"	"{PMID:Hichri-2005:15770229}"	""	""	""	"France"	""	"0"	""	""	"white"	""
"00383109"	""	""	""	"1"	""	"00000"	"{PMID:Hichri-2005:15770229}"	""	""	""	"France"	""	"0"	""	""	"North-African"	""
"00383138"	""	""	""	"1"	""	"00000"	"{PMID:Sathya Priya-2015:24400638}"	""	""	""	""	""	"0"	""	""	""	""
"00383143"	""	""	""	"1"	""	"00000"	"{PMID:Sathya Priya-2015:24400638}"	""	""	""	""	""	"0"	""	""	""	""
"00383187"	""	""	""	"1"	""	"00000"	"{PMID:Gerth-2008:17980398}"	""	"M"	""	""	""	"0"	""	""	""	""
"00383190"	""	""	""	"1"	""	"00000"	"{PMID:Gerth-2008:17980398}"	""	"F"	""	""	""	"0"	""	""	""	""
"00383191"	""	""	""	"1"	""	"00000"	"{PMID:Gerth-2008:17980398}"	""	"F"	""	""	""	"0"	""	""	""	""
"00383192"	""	""	""	"1"	""	"00000"	"{PMID:Gerth-2008:17980398}"	""	"F"	""	""	""	"0"	""	""	""	""
"00383204"	""	""	""	"1"	""	"00000"	"{PMID:Leitch-2008:18327255}"	""	"F"	""	""	""	"0"	""	""	"Middle Eastern"	""
"00383205"	""	""	""	"1"	""	"00000"	"{PMID:Leitch-2008:18327255}"	""	"F"	""	""	""	"0"	""	""	""	""
"00383208"	""	""	""	"1"	""	"00000"	"{PMID:Muller-2010:20177705}"	""	""	""	""	""	"0"	""	""	"white"	""
"00383209"	""	""	""	"2"	""	"00000"	"{PMID:Muller-2010:20177705}"	""	""	""	""	""	"0"	""	""	"Lebanese"	""
"00383210"	""	""	""	"1"	""	"00000"	"{PMID:Muller-2010:20177705}, Beales 2003"	""	""	""	""	""	"0"	""	""	"white"	""
"00383211"	""	""	""	"2"	""	"00000"	"{PMID:Muller-2010:20177705}, Beales 2003"	""	""	""	""	""	"0"	""	""	"North Africa"	""
"00383212"	""	""	""	"1"	""	"00000"	"{PMID:Muller-2010:20177705}, Beales 2003"	""	""	""	""	""	"0"	""	""	"white"	""
"00383213"	""	""	""	"1"	""	"00000"	"{PMID:Muller-2010:20177705}, Katsanis 2000"	""	""	""	""	""	"0"	""	""	"white"	""
"00383214"	""	""	""	"1"	""	"00000"	"{PMID:Muller-2010:20177705}"	""	""	""	""	""	"0"	""	""	"white"	""
"00383215"	""	""	""	"3"	""	"00000"	"{PMID:Muller-2010:20177705}"	""	""	""	""	""	"0"	""	""	"white"	""
"00383216"	""	""	""	"23"	""	"00000"	"{PMID:Muller-2010:20177705}, Mykytyn 2002"	""	""	""	""	""	"0"	""	""	"white"	""
"00383217"	""	""	""	"1"	""	"00000"	"{PMID:Muller-2010:20177705}, Beales 2003"	""	""	""	""	""	"0"	""	""	"white"	""
"00383218"	""	""	""	"1"	""	"00000"	"{PMID:Muller-2010:20177705}, Beales 2003"	""	""	""	""	""	"0"	""	""	"white"	""
"00383219"	""	""	""	"2"	""	"00000"	"{PMID:Muller-2010:20177705}, Mykytyn 2002"	""	""	""	""	""	"0"	""	""	"Portuguese"	""
"00383220"	""	""	""	"10"	""	"00000"	"{PMID:Muller-2010:20177705}, Beales 2003"	""	""	""	""	""	"0"	""	""	"white"	""
"00383221"	""	""	""	"2"	""	"00000"	"{PMID:Muller-2010:20177705}, Beales 2003"	""	""	""	""	""	"0"	""	""	"North Africa"	""
"00383293"	""	""	""	"1"	""	"00000"	"{PMID:Duelund Hjortshoj-2010:20120035}"	""	""	""	""	""	"0"	""	""	""	""
"00383303"	""	""	""	"1"	""	"00000"	"{PMID:Duelund Hjortshoj-2010:20120035}"	""	""	""	""	""	"0"	""	""	""	""
"00383305"	""	""	""	"1"	""	"00000"	"{PMID:Duelund Hjortshoj-2010:20120035}"	""	""	""	""	""	"0"	""	""	""	""
"00383306"	""	""	""	"1"	""	"00000"	"{PMID:Duelund Hjortshoj-2010:20120035}"	""	""	""	""	""	"0"	""	""	""	""
"00383329"	""	""	""	"1"	""	"00000"	"{PMID:Badano-2003:12837689}"	""	"F"	"no"	""	""	"0"	""	""	"white / northern European"	""
"00383330"	""	""	""	"1"	""	"00000"	"{PMID:Badano-2003:12837689}"	""	"F"	"no"	""	""	"0"	""	""	"white / northern European"	""
"00383331"	""	""	""	"1"	""	"00000"	"{PMID:Badano-2003:12837689}"	""	"F"	"no"	""	""	"0"	""	""	"northern European"	""
"00383332"	""	""	""	"1"	""	"00000"	"{PMID:Badano-2003:12837689}"	""	"M"	"no"	""	""	"0"	""	""	"northern European"	""
"00383333"	""	""	""	"1"	""	"00000"	"{PMID:Badano-2003:12837689}"	""	"F"	"no"	""	""	"0"	""	""	"northern European"	""
"00383335"	""	""	""	"1"	""	"00000"	"{PMID:Badano-2003:12837689}"	""	"M"	"no"	""	""	"0"	""	""	"northern Italy"	""
"00383337"	""	""	""	"1"	""	"00000"	"{PMID:Hoskins-2003:12872256}"	""	""	""	""	""	"0"	""	""	""	""
"00383339"	""	""	""	"1"	""	"00000"	"{PMID:Hoskins-2003:12872256}"	""	""	""	""	""	"0"	""	""	""	""
"00383347"	""	""	""	"1"	""	"00000"	"{PMID:Hoskins-2003:12872256}"	""	""	""	""	""	"0"	""	""	""	""
"00383352"	""	""	""	"1"	""	"00000"	"{PMID:Fauser-2003:12920096}, Mykytyn 2002"	""	""	"no"	""	""	"0"	""	""	"European"	""
"00383353"	""	""	""	"1"	""	"00000"	"{PMID:Fauser-2003:12920096}"	""	""	"no"	""	""	"0"	""	""	"European"	""
"00383354"	""	""	""	"1"	""	"00000"	"{PMID:Fauser-2003:12920096}, Mykytyn 2002"	""	""	"no"	""	""	"0"	""	""	"European"	""
"00383355"	""	""	""	"1"	""	"00000"	"{PMID:Fauser-2003:12920096}, Mykytyn 2002"	""	""	"no"	""	""	"0"	""	""	"European"	""
"00383356"	""	""	""	"1"	""	"00000"	"{PMID:Fauser-2003:12920096}"	""	""	"no"	""	""	"0"	""	""	"European"	""
"00383357"	""	""	""	"1"	""	"00000"	"{PMID:Fauser-2003:12920096}, Beales 2003"	""	""	"no"	""	""	"0"	""	""	"European"	""
"00383362"	""	""	""	"1"	""	"00000"	"{PMID:Eichers-2009:15224652}, Beales 2003"	""	""	""	""	""	"0"	""	""	""	""
"00383363"	""	""	""	"1"	""	"00000"	"{PMID:Eichers-2009:15224652}, Beales 2003"	"both affected individuals have inherited two BBS1 mutant alleles (one missesnse and one frameshift) but only one of the two carries a third mutant allele of BBS6 (missense)."	""	""	""	""	"0"	""	""	""	""
"00383364"	""	""	""	"1"	""	"00000"	"{PMID:Eichers-2009:15224652}, Beales 2003"	""	""	""	""	""	"0"	""	""	""	""
"00383365"	""	""	""	"1"	""	"00000"	"{PMID:Eichers-2009:15224652}, Beales 2003"	""	""	""	""	""	"0"	""	""	""	""
"00383366"	""	""	""	"1"	""	"00000"	"{PMID:Eichers-2009:15224652}, Beales 2003"	""	""	""	""	""	"0"	""	""	""	""
"00383367"	""	""	""	"1"	""	"00000"	"{PMID:Eichers-2009:15224652}, Beales 2003"	""	""	""	""	""	"0"	""	""	""	""
"00383368"	""	""	""	"1"	""	"00000"	"{PMID:Eichers-2009:15224652}, Beales 2003"	""	""	""	""	""	"0"	""	""	""	""
"00383372"	""	""	""	"1"	""	"00000"	"{PMID:Eichers-2009:15224652}, Katsanis 2001"	""	""	""	""	""	"0"	""	""	""	""
"00383375"	""	""	""	"1"	""	"00000"	"{PMID:Eichers-2009:15224652}, Katsanis 2001"	""	""	""	""	""	"0"	""	""	""	""
"00383463"	""	""	""	"1"	""	"00000"	"{PMID:Alvarez-Satta 2014:24611592}, {PMID:Castro-Sanchez 2019:31506453}"	""	"F"	""	"India"	""	"0"	""	""	"Asian"	"GBB22"
"00383464"	""	""	""	"1"	""	"00000"	"{PMID:Alvarez-Satta 2014:24611592}, {PMID:Castro-Sanchez 2019:31506453}"	""	"F"	""	"Spain"	""	"0"	""	""	"white"	"RP1377"
"00383465"	""	""	""	"1"	""	"00000"	"{PMID:Alvarez-Satta 2014:24611592}, {PMID:Castro-Sanchez 2019:31506453}"	""	"M"	""	"Spain"	""	"0"	""	""	"white"	"GBB27"
"00383657"	""	""	""	"1"	""	"00000"	"{PMID:Manara 2019:31196119}"	""	"F"	""	""	""	"0"	""	""	""	"6"
"00383661"	""	""	""	"1"	""	"00000"	"{PMID:Manara 2019:31196119}"	""	"M"	""	""	""	"0"	""	""	""	"10"
"00384122"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-2429"
"00384123"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-2444"
"00384205"	""	""	""	"1"	""	"00000"	"{PMID:Tayebi 2019:30820146}"	""	""	""	"Iran"	""	"0"	""	""	""	"066872"
"00384659"	""	""	""	"1"	""	"00000"	"{PMID:Feuillan-2011:21209035}"	""	""	""	""	""	"0"	""	""	""	""
"00384660"	""	""	""	"1"	""	"00000"	"{PMID:Feuillan-2011:21209035}"	""	""	""	""	""	"0"	""	""	""	""
"00384661"	""	""	""	"1"	""	"00000"	"{PMID:Feuillan-2011:21209035}"	""	""	""	""	""	"0"	""	""	""	""
"00384662"	""	""	""	"1"	""	"00000"	"{PMID:Feuillan-2011:21209035}"	""	""	""	""	""	"0"	""	""	""	""
"00384663"	""	""	""	"1"	""	"00000"	"{PMID:Feuillan-2011:21209035}"	""	""	""	""	""	"0"	""	""	""	""
"00384664"	""	""	""	"1"	""	"00000"	"{PMID:Feuillan-2011:21209035}"	""	""	""	""	""	"0"	""	""	""	""
"00384665"	""	""	""	"1"	""	"00000"	"{PMID:Feuillan-2011:21209035}"	""	""	""	""	""	"0"	""	""	""	""
"00384666"	""	""	""	"1"	""	"00000"	"{PMID:Feuillan-2011:21209035}"	""	""	""	""	""	"0"	""	""	""	""
"00384667"	""	""	""	"1"	""	"00000"	"{PMID:Feuillan-2011:21209035}"	""	""	""	""	""	"0"	""	""	""	""
"00384668"	""	""	""	"1"	""	"00000"	"{PMID:Feuillan-2011:21209035}"	""	""	""	""	""	"0"	""	""	""	""
"00384669"	""	""	""	"1"	""	"00000"	"{PMID:Feuillan-2011:21209035}"	""	""	""	""	""	"0"	""	""	""	""
"00384670"	""	""	""	"1"	""	"00000"	"{PMID:Feuillan-2011:21209035}"	""	""	""	""	""	"0"	""	""	""	""
"00384714"	""	""	""	"1"	""	"00000"	"{PMID:Billingsley-2010:20472660}"	""	"F"	""	""	""	"0"	""	""	"Turkish"	""
"00384726"	""	""	""	"1"	""	"00000"	"{PMID:Billingsley-2010:20472660}"	""	""	""	""	""	"0"	""	""	"Egyptian"	""
"00384735"	""	""	""	"1"	""	"00000"	"{PMID:Billingsley-2010:20472660}"	""	""	""	""	""	"0"	""	""	"British/Irish/Scottish"	""
"00384736"	""	""	""	"1"	""	"00000"	"{PMID:Billingsley-2010:20472660}"	""	""	""	""	""	"0"	""	""	"Pakistani"	""
"00384784"	""	""	""	"1"	""	"00000"	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	""	""	"yes"	"Saudi Arabia"	""	"0"	""	""	"Arab"	""
"00384785"	""	""	""	"1"	""	"00000"	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	""	""	"yes"	"Saudi Arabia"	""	"0"	""	""	"Arab"	""
"00384786"	""	""	""	"1"	""	"00000"	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	"2 unaffected siblings screened"	""	"yes"	"Saudi Arabia"	""	"0"	""	""	"Arab"	""
"00384787"	""	""	""	"1"	""	"00000"	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	"2 unaffected siblings screened"	""	"yes"	"Saudi Arabia"	""	"0"	""	""	"Arab"	""
"00384788"	""	""	""	"1"	""	"00000"	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	"2 unaffected siblings screened"	""	"yes"	"Saudi Arabia"	""	"0"	""	""	"Arab"	""
"00384801"	""	""	""	"1"	""	"00000"	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	"3 unaffected siblings screened"	""	"yes"	"Saudi Arabia"	""	"0"	""	""	"Arab"	""
"00384802"	""	""	""	"1"	""	"00000"	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	"3 unaffected siblings screened"	""	"yes"	"Saudi Arabia"	""	"0"	""	""	"Arab"	""
"00384803"	""	""	""	"1"	""	"00000"	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	"2 unaffected siblings screened"	""	"no"	"Saudi Arabia"	""	"0"	""	""	"Arab"	""
"00384804"	""	""	""	"1"	""	"00000"	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	"2 unaffected siblings screened"	""	"no"	"Saudi Arabia"	""	"0"	""	""	"Arab"	""
"00384805"	""	""	""	"1"	""	"00000"	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	"1 unaffected siblings screened"	""	"yes"	"Saudi Arabia"	""	"0"	""	""	"Arab"	""
"00384806"	""	""	""	"1"	""	"00000"	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	"1 unaffected siblings screened"	""	"yes"	"Saudi Arabia"	""	"0"	""	""	"Arab"	""
"00384807"	""	""	""	"1"	""	"00000"	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	"1 unaffected siblings screened"	""	"yes"	"Saudi Arabia"	""	"0"	""	""	"Arab"	""
"00384813"	""	""	""	"1"	""	"00000"	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	"5 unaffected siblings screened"	""	"yes"	"Saudi Arabia"	""	"0"	""	""	"Arab"	""
"00384814"	""	""	""	"1"	""	"00000"	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	"5 unaffected siblings screened"	""	"yes"	"Saudi Arabia"	""	"0"	""	""	"Arab"	""
"00384818"	""	""	""	"1"	""	"00000"	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	""	""	"yes"	"Saudi Arabia"	""	"0"	""	""	"Arab"	""
"00384825"	""	""	""	"1"	""	"00000"	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	"3 unaffected siblings screened"	""	"yes"	"Saudi Arabia"	""	"0"	""	""	"Arab"	""
"00384826"	""	""	""	"1"	""	"00000"	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	"3 unaffected siblings screened"	""	"yes"	"Saudi Arabia"	""	"0"	""	""	"Arab"	""
"00384830"	""	""	""	"1"	""	"00000"	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	""	""	"yes"	"Saudi Arabia"	""	"0"	""	""	"Arab"	""
"00384831"	""	""	""	"1"	""	"00000"	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	""	""	"yes"	"Saudi Arabia"	""	"0"	""	""	"Arab"	""
"00384834"	""	""	""	"1"	""	"00000"	"{PMID:Abu-Safieh-2012:22353939}"	"2 unaffected siblings screened"	""	"yes"	"Saudi Arabia"	""	"0"	""	""	"Arab"	""
"00384837"	""	""	""	"1"	""	"00000"	"{PMID:Abu-Safieh-2012:22353939}, Stoetzel 2006"	"3 unaffected siblings screened"	""	"yes"	"Saudi Arabia"	""	"0"	""	""	"Arab"	""
"00384838"	""	""	""	"1"	""	"00000"	"{PMID:Abu-Safieh-2012:22353939}"	""	""	"yes"	"Saudi Arabia"	""	"0"	""	""	"Arab"	""
"00384839"	""	""	""	"1"	""	"00000"	"{PMID:Abu-Safieh-2012:22353939}"	""	""	"yes"	"Saudi Arabia"	""	"0"	""	""	"Arab"	""
"00385150"	""	""	""	"1"	""	"00000"	"{PMID:Jiman 2020:31836858}"	""	"F"	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	"34"
"00385151"	""	""	""	"1"	""	"00000"	"{PMID:Jiman 2020:31836858}"	""	"M"	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	"35"
"00385152"	""	""	""	"1"	""	"00000"	"{PMID:Jiman 2020:31836858}"	""	"F"	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	"36"
"00385168"	""	""	""	"1"	""	"00000"	"{PMID:Jiman 2020:31836858}"	""	"M"	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	"61"
"00385169"	""	""	""	"1"	""	"00000"	"{PMID:Jiman 2020:31836858}"	""	"F"	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	"62"
"00385178"	""	""	""	"1"	""	"00000"	"{PMID:Chen-2011:21642631}"	""	""	""	""	""	"0"	""	""	"white"	""
"00385179"	""	""	""	"1"	""	"00000"	"{PMID:Chen-2011:21642631}"	""	""	""	""	""	"0"	""	""	"Tunisian"	""
"00385180"	""	""	""	"1"	""	"00000"	"{PMID:Chen-2011:21642631}"	""	""	""	""	""	"0"	""	""	"white"	""
"00385186"	""	""	""	"1"	""	"00000"	"{PMID:Chen-2011:21642631}"	""	""	""	""	""	"0"	""	""	"white"	""
"00385187"	""	""	""	"1"	""	"00000"	"{PMID:Chen-2011:21642631}"	""	""	""	""	""	"0"	""	""	"white"	""
"00385188"	""	""	""	"1"	""	"00000"	"{PMID:Chen-2011:21642631}"	""	""	""	""	""	"0"	""	""	"white"	""
"00385189"	""	""	""	"1"	""	"00000"	"{PMID:Chen-2011:21642631}"	""	""	""	""	""	"0"	""	""	"white"	""
"00385190"	""	""	""	"1"	""	"00000"	"{PMID:Chen-2011:21642631}"	""	""	""	""	""	"0"	""	""	"white"	""
"00385191"	""	""	""	"1"	""	"00000"	"{PMID:Chen-2011:21642631}"	""	""	""	""	""	"0"	""	""	"white"	""
"00385192"	""	""	""	"1"	""	"00000"	"{PMID:Chen-2011:21642631}"	""	""	""	""	""	"0"	""	""	"white"	""
"00385193"	""	""	""	"1"	""	"00000"	"{PMID:Chen-2011:21642631}"	""	""	""	""	""	"0"	""	""	"white"	""
"00385194"	""	""	""	"1"	""	"00000"	"{PMID:Chen-2011:21642631}"	""	""	""	""	""	"0"	""	""	"white"	""
"00385195"	""	""	""	"1"	""	"00000"	"{PMID:Chen-2011:21642631}"	""	""	""	""	""	"0"	""	""	"white"	""
"00385196"	""	""	""	"1"	""	"00000"	"{PMID:Chen-2011:21642631}"	""	""	""	""	""	"0"	""	""	"white"	""
"00385197"	""	""	""	"1"	""	"00000"	"{PMID:Chen-2011:21642631}"	""	""	""	""	""	"0"	""	""	"white"	""
"00385198"	""	""	""	"1"	""	"00000"	"{PMID:Chen-2011:21642631}"	""	""	""	""	""	"0"	""	""	"white"	""
"00385199"	""	""	""	"1"	""	"00000"	"{PMID:Chen-2011:21642631}"	""	""	""	""	""	"0"	""	""	"Tunisian"	""
"00385200"	""	""	""	"1"	""	"00000"	"{PMID:Chen-2011:21642631}"	""	""	""	""	""	"0"	""	""	"white"	""
"00385201"	""	""	""	"1"	""	"00000"	"{PMID:Chen-2011:21642631}"	""	""	""	""	""	"0"	""	""	"white"	""
"00385228"	""	""	""	"1"	""	"00000"	"{PMID:Redin-2012:22773737}"	""	""	""	"Morocco"	""	"0"	""	""	""	""
"00385239"	""	""	""	"1"	""	"00000"	"{PMID:Redin-2012:22773737}"	""	""	""	"Turkey"	""	"0"	""	""	""	""
"00385241"	""	""	""	"1"	""	"00000"	"{PMID:Redin-2012:22773737}"	""	""	""	""	""	"0"	""	""	""	""
"00385246"	""	""	""	"1"	""	"00000"	"{PMID:Redin-2012:22773737}"	""	""	""	"Tunisia"	""	"0"	""	""	""	""
"00385248"	""	""	""	"1"	""	"00000"	"{PMID:Redin-2012:22773737}"	""	""	""	"Tunisia"	""	"0"	""	""	""	""
"00385249"	""	""	""	"1"	""	"00000"	"{PMID:Redin-2012:22773737}"	""	""	""	"Tunisia"	""	"0"	""	""	""	""
"00385273"	""	""	""	"1"	""	"00000"	"{PMID:M\'hamdi-2014:23432027}"	""	"F"	"yes"	"Tunisia"	""	"0"	""	""	"Tunisian"	""
"00385274"	""	""	""	"1"	""	"00000"	"{PMID:M\'hamdi-2014:23432027}"	""	"F"	"yes"	"Tunisia"	""	"0"	""	""	"Tunisian"	""
"00385277"	""	""	""	"1"	""	"00000"	"{PMID:M\'hamdi-2014:23432027}"	""	"F"	"yes"	"Tunisia"	""	"0"	""	""	"Tunisian"	""
"00385278"	""	""	""	"1"	""	"00000"	"{PMID:M\'hamdi-2014:23432027}"	""	"F"	"yes"	"Tunisia"	""	"0"	""	""	"Tunisian"	""
"00385279"	""	""	""	"1"	""	"00000"	"{PMID:M\'hamdi-2014:23432027}"	""	"F"	"yes"	"Tunisia"	""	"0"	""	""	"Tunisian"	""
"00385280"	""	""	""	"1"	""	"00000"	"{PMID:M\'hamdi-2014:23432027}"	""	""	"yes"	"Tunisia"	""	"0"	""	""	"Tunisian"	""
"00385288"	""	""	""	"1"	""	"00000"	"{PMID:Imhoff-2011:20876674}"	""	"F"	""	""	""	"0"	""	""	"French"	""
"00385289"	""	""	""	"1"	""	"00000"	"{PMID:Imhoff-2011:20876674}"	""	"M"	""	""	""	"0"	""	""	"French"	""
"00385290"	""	""	""	"1"	""	"00000"	"{PMID:Imhoff-2011:20876674}"	"additional mutation"	""	""	""	""	"0"	""	""	"English"	""
"00385291"	""	""	""	"1"	""	"00000"	"{PMID:Imhoff-2011:20876674}"	"additional mutation"	""	""	""	""	"0"	""	""	"Polish"	""
"00385292"	""	""	""	"1"	""	"00000"	"{PMID:Imhoff-2011:20876674}"	"novel, additional mutation"	""	"yes"	""	""	"0"	""	""	"Polish"	""
"00385293"	""	""	""	"1"	""	"00000"	"{PMID:Imhoff-2011:20876674}"	"additional mutation"	""	""	""	""	"0"	""	""	"English/Scottish/Irish/German/Icelandic"	""
"00385294"	""	""	""	"1"	""	"00000"	"{PMID:Imhoff-2011:20876674}"	"additional mutation"	""	"yes"	""	""	"0"	""	""	"Pakistani"	""
"00385295"	""	""	""	"1"	""	"00000"	"{PMID:Imhoff-2011:20876674}"	"additional mutation"	""	""	""	""	"0"	""	""	"English/Irish/Scottish"	""
"00385296"	""	""	""	"1"	""	"00000"	"{PMID:Imhoff-2011:20876674}"	"additional mutation"	""	"yes"	""	""	"0"	""	""	"Dene"	""
"00385297"	""	""	""	"1"	""	"00000"	"{PMID:Imhoff-2011:20876674}"	"novel"	""	""	""	""	"0"	""	""	"Polish"	""
"00385298"	""	""	""	"1"	""	"00000"	"{PMID:Imhoff-2011:20876674}"	"novel, additional mutation"	""	"yes"	""	""	"0"	""	""	"Arabic"	""
"00385299"	""	""	""	"1"	""	"00000"	"{PMID:Imhoff-2011:20876674}"	""	""	""	""	""	"0"	""	""	"white"	""
"00385317"	""	""	""	"1"	""	"00000"	"{PMID:Deveault-2011:21344540}"	"No principal mutations.  and variants"	"F"	""	""	""	"0"	""	""	"British/Irish"	""
"00385318"	""	""	""	"1"	""	"00000"	"{PMID:Deveault-2011:21344540}"	"No principal mutations."	"M"	""	""	""	"0"	""	""	"Jamaican/Trinidadian"	""
"00385319"	""	""	""	"1"	""	"00000"	"{PMID:Deveault-2011:21344540}"	"No principal mutations."	"M"	""	""	""	"0"	""	""	"Scottish"	""
"00385320"	""	""	""	"1"	""	"00000"	"{PMID:Deveault-2011:21344540}"	""	"F"	""	""	""	"0"	""	""	"English"	""
"00385321"	""	""	""	"1"	""	"00000"	"{PMID:Deveault-2011:21344540}"	""	""	""	""	""	"0"	""	""	"English/Irish/Scottish"	""
"00385322"	""	""	""	"1"	""	"00000"	"{PMID:Deveault-2011:21344540}"	""	"F"	""	""	""	"0"	""	""	"white"	""
"00385323"	""	""	""	"1"	""	"00000"	"{PMID:Deveault-2011:21344540}"	""	"F"	""	""	""	"0"	""	""	"Russian"	""
"00385324"	""	""	""	"1"	""	"00000"	"{PMID:Deveault-2011:21344540}"	""	"F"	""	""	""	"0"	""	""	"Italian"	""
"00385325"	""	""	""	"1"	""	"00000"	"{PMID:Deveault-2011:21344540}"	"novel"	"M"	""	""	""	"0"	""	""	"Mexican"	""
"00385326"	""	""	""	"1"	""	"00000"	"{PMID:Deveault-2011:21344540}"	""	""	""	""	""	"0"	""	""	"English/Irish/Scottish"	""
"00385327"	""	""	""	"1"	""	"00000"	"{PMID:Deveault-2011:21344540}"	""	""	""	""	""	"0"	""	""	"Polish"	""
"00385328"	""	""	""	"1"	""	"00000"	"{PMID:Deveault-2011:21344540}"	""	"M"	""	""	""	"0"	""	""	"British/Canadian/French/German"	""
"00385329"	""	""	""	"1"	""	"00000"	"{PMID:Deveault-2011:21344540}"	""	"M"	""	""	""	"0"	""	""	"French-Canadian"	""
"00385330"	""	""	""	"1"	""	"00000"	"{PMID:Deveault-2011:21344540}"	"novel"	"F"	""	""	""	"0"	""	""	"Mexican/Norwegian/Danish"	""
"00385337"	""	""	""	"1"	""	"00000"	"{PMID:Deveault-2011:21344540}"	""	"M"	""	""	""	"0"	""	""	"white"	""
"00385362"	""	""	""	"1"	""	"00000"	"{PMID:Deveault-2011:21344540}"	""	"F"	"yes"	""	""	"0"	""	""	"Pakistani"	""
"00385374"	""	""	""	"1"	""	"00000"	"{PMID:Deveault-2011:21344540}"	""	""	""	""	""	"0"	""	""	"South African Black"	""
"00385384"	""	""	""	"1"	""	"00000"	"{PMID:Deveault-2011:21344540}"	""	"M"	""	""	""	"0"	""	""	"French"	""
"00385385"	""	""	""	"1"	""	"00000"	"{PMID:Deveault-2011:21344540}"	""	"M"	""	""	""	"0"	""	""	"French"	""
"00385388"	""	""	""	"1"	""	"00000"	"{PMID:Deveault-2011:21344540}"	""	"M"	""	""	""	"0"	""	""	"French"	""
"00385562"	""	""	""	"1"	""	"00000"	"{PMID:Janssen-2011:21052717}"	""	""	""	""	""	"0"	""	""	"Northern-Europe"	"AR122(A2831)-4"
"00385572"	""	""	""	"1"	""	"00000"	"{PMID:Janssen-2011:21052717}"	""	""	""	""	""	"0"	""	""	"Northern-Europe"	"AR603(A2858)-3"
"00385573"	""	""	""	"1"	""	"00000"	"{PMID:Janssen-2011:21052717}"	""	""	""	""	""	"0"	""	""	"Northern-Europe"	"AR603(A2858)-3"
"00385574"	""	""	""	"1"	""	"00000"	"{PMID:Janssen-2011:21052717}"	""	""	""	""	""	"0"	""	""	"Northern-Europe"	"AR61(A2826)-4"
"00385575"	""	""	""	"1"	""	"00000"	"{PMID:Janssen-2011:21052717}"	""	""	""	""	""	"0"	""	""	"Northern-Europe"	"AR61(A2826)-5"
"00385589"	""	""	""	"1"	""	"00000"	"{PMID:Janssen-2011:21052717}"	""	""	""	"Turkey"	""	"0"	""	""	""	"PB206(A2024)-II1"
"00385591"	""	""	""	"1"	""	"00000"	"{PMID:Janssen-2011:21052717}"	""	""	""	""	""	"0"	""	""	""	"A2499"
"00385592"	""	""	""	"1"	""	"00000"	"{PMID:Janssen-2011:21052717}"	""	""	""	""	""	"0"	""	""	""	"A2517"
"00385593"	""	""	""	"1"	""	"00000"	"{PMID:Janssen-2011:21052717}"	""	""	""	""	""	"0"	""	""	"Northern-Europe"	"AR786(A2868)-03"
"00385594"	""	""	""	"1"	""	"00000"	"{PMID:Janssen-2011:21052717}"	""	""	""	""	""	"0"	""	""	""	"AR786(A2868)-4"
"00385622"	""	""	""	"1"	""	"00000"	"{PMID:Alvarez-Satta-2014:24611592}"	""	""	""	"Spain"	""	"0"	""	""	"Spanish"	"GBB6"
"00385623"	""	""	""	"1"	""	"00000"	"{PMID:de Castro-Miró-2014:24516651}"	""	""	""	""	""	"0"	""	""	""	"21NCE"
"00385624"	""	""	""	"1"	""	"00000"	"{PMID:Alvarez-Satta-2014:24611592}"	""	""	""	"Spain"	""	"0"	""	""	"Spanish"	"RP1378"
"00385640"	""	""	""	"1"	""	"00000"	"{PMID:Lindstrand-2014:24746959}"	""	"F"	""	""	""	"0"	""	""	"Latino"	"AR888-03"
"00386602"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"099-020"
"00386709"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"OGI2837_004422"
"00386846"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"OGI683_001366"
"00386861"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"OGI787_001532"
"00387131"	""	""	""	"1"	""	"00000"	"{PMID:Jauregui 2020:32098976}"	""	"F"	""	"(United States)"	""	"0"	""	""	"Hispanic"	"157"
"00387442"	""	""	""	"1"	""	"00000"	"{PMID:Castro Sanchez 2015:26082521}"	""	"M"	""	"Spain"	""	"0"	""	""	"Spanish"	""
"00387443"	""	""	""	"1"	""	"00000"	"{PMID:Castro Sanchez 2015:26082521}"	""	"M"	""	"Spain"	""	"0"	""	""	"Spanish"	""
"00387444"	""	""	""	"1"	""	"00000"	"{PMID:Castro Sanchez 2015:26082521}"	""	"M"	""	"Spain"	""	"0"	""	""	"Spanish"	""
"00387445"	""	""	""	"1"	""	"00000"	"{PMID:Castro Sanchez 2015:26082521}"	""	"M"	""	"Spain"	""	"0"	""	""	"Spanish"	""
"00387446"	""	""	""	"1"	""	"00000"	"{PMID:Castro Sanchez 2015:26082521}"	""	"F"	""	"Spain"	""	"0"	""	""	"Spanish"	""
"00387447"	""	""	""	"1"	""	"00000"	"{PMID:Castro Sanchez 2015:26082521}"	""	"M"	""	"Spain"	""	"0"	""	""	"Spanish"	""
"00387448"	""	""	""	"1"	""	"00000"	"{PMID:Castro Sanchez 2015:26082521}"	""	"F"	"yes"	"Spain"	""	"0"	""	""	"Spanish"	""
"00387449"	""	""	""	"1"	""	"00000"	"{PMID:Castro Sanchez 2015:26082521}"	""	"F"	"yes"	"Spain"	""	"0"	""	""	"Spanish"	""
"00387450"	""	""	""	"1"	""	"00000"	"{PMID:Castro Sanchez 2015:26082521}"	""	"F"	""	"Spain"	""	"0"	""	""	"Spanish"	""
"00387451"	""	""	""	"1"	""	"00000"	"{PMID:Castro Sanchez 2015:26082521}"	""	"M"	""	"Spain"	""	"0"	""	""	"Spanish"	""
"00387452"	""	""	""	"1"	""	"00000"	"{PMID:Castro Sanchez 2015:26082521}"	""	"M"	""	"Spain"	""	"0"	""	""	"Spanish"	""
"00387453"	""	""	""	"1"	""	"00000"	"{PMID:Castro Sanchez 2015:26082521}"	""	"F"	""	"Spain"	""	"0"	""	""	"Spanish"	""
"00387454"	""	""	""	"1"	""	"00000"	"{PMID:Castro Sanchez 2015:26082521}"	""	"F"	""	"Spain"	""	"0"	""	""	"Spanish"	""
"00387455"	""	""	""	"1"	""	"00000"	"{PMID:Castro Sanchez 2015:26082521}"	""	"F"	""	"Spain"	""	"0"	""	""	"Spanish"	""
"00387456"	""	""	""	"1"	""	"00000"	"{PMID:Castro Sanchez 2015:26082521}"	""	"F"	""	"Spain"	""	"0"	""	""	"Spanish"	""
"00387457"	""	""	""	"1"	""	"00000"	"{PMID:Castro Sanchez 2015:26082521}"	""	"M"	""	"Spain"	""	"0"	""	""	"Spanish"	""
"00387458"	""	""	""	"1"	""	"00000"	"{PMID:Castro Sanchez 2015:26082521}"	""	"M"	""	"Spain"	""	"0"	""	""	"Spanish"	""
"00387459"	""	""	""	"1"	""	"00000"	"{PMID:Castro Sanchez 2015:26082521}"	""	"F"	""	"Spain"	""	"0"	""	""	"Spanish"	""
"00387460"	""	""	""	"2"	""	"00000"	"{PMID:Castro Sanchez 2015:26082521}"	""	"F"	""	"Spain"	""	"0"	""	""	"Spanish"	""
"00387461"	""	""	""	"1"	""	"00000"	"{PMID:Castro Sanchez 2015:26082521}"	""	"F"	""	"Spain"	""	"0"	""	""	"Spanish"	""
"00387462"	""	""	""	"1"	""	"00000"	"{PMID:Castro Sanchez 2015:26082521}"	""	"M"	""	"Spain"	""	"0"	""	""	"Spanish"	""
"00387463"	""	""	""	"1"	""	"00000"	"{PMID:Castro Sanchez 2015:26082521}"	""	"M"	""	"Spain"	""	"0"	""	""	"Spanish"	""
"00387464"	""	""	""	"1"	""	"00000"	"{PMID:Castro Sanchez 2015:26082521}"	""	"F"	"yes"	"Spain"	""	"0"	""	""	"Spanish"	""
"00387465"	""	""	""	"1"	""	"00000"	"{PMID:Castro Sanchez 2015:26082521}"	""	"M"	""	"Spain"	""	"0"	""	""	"Spanish"	""
"00387466"	""	""	""	"1"	""	"00000"	"{PMID:Castro Sanchez 2015:26082521}"	""	"F"	""	"Spain"	""	"0"	""	""	"Spanish"	""
"00387467"	""	""	""	"1"	""	"00000"	"{PMID:Castro Sanchez 2015:26082521}"	""	"M"	""	"Spain"	""	"0"	""	""	"Spanish"	""
"00387468"	""	""	""	"1"	""	"00000"	"{PMID:Castro Sanchez 2015:26082521}"	""	"F"	""	"Spain"	""	"0"	""	""	"Spanish"	""
"00387469"	""	""	""	"1"	""	"00000"	"{PMID:Castro Sanchez 2015:26082521}"	""	"F"	""	"Spain"	""	"0"	""	""	"Spanish"	""
"00387470"	""	""	""	"1"	""	"00000"	"{PMID:Castro Sanchez 2015:26082521}"	""	"M"	""	"Spain"	""	"0"	""	""	"Spanish"	""
"00387471"	""	""	""	"1"	""	"00000"	"{PMID:Castro Sanchez 2015:26082521}"	""	"F"	""	"Spain"	""	"0"	""	""	"Spanish"	""
"00387472"	""	""	""	"1"	""	"00000"	"{PMID:Castro Sanchez 2015:26082521}"	""	"M"	""	"Spain"	""	"0"	""	""	"Spanish"	""
"00387473"	""	""	""	"1"	""	"00000"	"{PMID:Castro Sanchez 2015:26082521}"	""	"M"	""	"Spain"	""	"0"	""	""	"Spanish"	""
"00387474"	""	""	""	"1"	""	"00000"	"{PMID:Castro Sanchez 2015:26082521}"	""	"F"	""	"Spain"	""	"0"	""	""	"Spanish"	""
"00387554"	""	""	""	"1"	""	"00000"	"{PMID:Knopp 2015:26003401}"	"Patient"	"F"	"yes"	""	""	"0"	""	""	""	""
"00387582"	""	""	""	"1"	""	"00000"	"{PMID:Scheidecker 2015:25982971}"	"novel mutation, cone-rod distrophy"	"M"	""	""	""	"0"	""	""	""	""
"00387583"	""	""	""	"1"	""	"00000"	"{PMID:Scheidecker 2015:25982971}"	"cone-rod distrophy"	"M"	""	""	""	"0"	""	""	""	""
"00388027"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2016:27788217}"	""	"F"	""	"United States"	""	"0"	""	""	""	"2"
"00388028"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2016:27788217}"	"Both parents are heterozygous for p.M390R"	"M"	""	"United States"	""	"0"	""	""	""	"3"
"00388035"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2016:27788217}"	""	"F"	""	"United States"	""	"0"	""	""	""	"7"
"00388036"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2016:27788217}"	""	"M"	""	"United States"	""	"0"	""	""	""	"8"
"00388037"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2016:27788217}"	""	"M"	""	"United States"	""	"0"	""	""	""	"9"
"00388038"	""	""	""	"1"	""	"00000"	"{PMID:Esposito 2017:28143435}"	""	""	"yes"	"Italy"	""	"0"	""	""	""	"P.4"
"00388039"	""	""	""	"1"	""	"00000"	"{PMID:Esposito 2017:28143435}"	""	""	"yes"	"Italy"	""	"0"	""	""	""	"P.5"
"00388040"	""	""	""	"1"	""	"00000"	"{PMID:Esposito 2017:28143435}"	""	""	""	"Italy"	""	"0"	""	""	""	"P.6"
"00388041"	""	""	""	"1"	""	"00000"	"{PMID:Esposito 2017:28143435}"	""	""	""	"Italy"	""	"0"	""	""	""	"P.7"
"00388145"	""	""	""	"1"	""	"00000"	"{PMID:Surl 2020:32165824}, {PMID:Moon 2021:35052368}"	""	"F"	""	"Korea"	""	"0"	""	""	""	"Pat2;Pat3"
"00388526"	""	""	""	"1"	""	"00000"	"{PMID:Hirano 2020:32451492}"	""	"M"	"no"	"Japan"	""	"0"	""	""	""	"1"
"00388554"	""	""	""	"1"	""	"00000"	"{PMID:Dineiro 2020:32483926}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"OFTALMO.015"
"00388732"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 10, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"16"
"00388733"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 10, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"17"
"00388747"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 17, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"31"
"00388748"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 18, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"32"
"00388768"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 30, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"52"
"00388822"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 49, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"106"
"00388836"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 54, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"120"
"00388867"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 64, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"151"
"00388879"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 66, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"163"
"00388934"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 77, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"218"
"00389527"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 328, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"811"
"00389595"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 367, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"879"
"00389735"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 522, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"1019"
"00389928"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 942, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"1212"
"00389953"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 996, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"1237"
"00389958"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 1011, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"1242"
"00389967"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 1034, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"1251"
"00390040"	""	""	""	"1"	""	"00000"	"{PMID:Liu 2020:32562694}"	""	"?"	""	"China"	""	"0"	""	""	""	"G1525"
"00390169"	""	""	""	"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"	""	""	""	"G004718"
"00390170"	""	""	""	"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"	""	""	""	"G005000"
"00390171"	""	""	""	"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"	""	""	""	"G007690"
"00390172"	""	""	""	"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"	""	""	""	"G007741"
"00391573"	""	""	""	"1"	""	"00000"	"{PMID:Hull 2020:32856788}"	""	"?"	""	"New Zealand"	""	"0"	""	""	"white"	"70"
"00393966"	""	""	""	"1"	""	"00000"	"{PMID:Strong-2020:33369054}"	""	"M"	""	""	""	"0"	""	""	""	""
"00394359"	""	""	""	"1"	""	"00000"	"{PMID:Thorsteinsson 2021:33851411}"	""	"?"	""	"Iceland"	""	"0"	""	""	""	"BBS1"
"00395586"	""	""	""	"1"	""	"00000"	"{PMID:Perea-Romero 2021:34448047}"	""	""	""	"Spain"	""	"0"	""	""	""	"RP-1581"
"00395603"	""	""	""	"1"	""	"00000"	"{PMID:Perea-Romero 2021:34448047}"	""	""	""	"Spain"	""	"0"	""	""	""	"RP-2634"
"00395604"	""	""	""	"1"	""	"00000"	"{PMID:Perea-Romero 2021:34448047}"	""	""	""	"Spain"	""	"0"	""	""	""	"RP-2846"
"00395610"	""	""	""	"1"	""	"00000"	"{PMID:Perea-Romero 2021:34448047}"	""	""	""	"Spain"	""	"0"	""	""	""	"RP-2996"
"00395618"	""	""	""	"1"	""	"00000"	"{PMID:Perea-Romero 2021:34448047}"	""	""	""	"Spain"	""	"0"	""	""	""	"RP-3115"
"00396430"	""	""	""	"1"	""	"00006"	"{PMID:Ellingford 2016:26872967}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"087751"
"00396470"	""	""	""	"1"	""	"00000"	"{PMID:Dockery 2017:29099798}"	"no patient numbers in the paper, consecutive numbers given"	"?"	""	"Ireland"	""	"0"	""	""	""	"3"
"00396539"	""	""	""	"1"	""	"00000"	"{PMID:Mary 2019:30614526}"	"Fetus: term at 24 gestation weeks"	"M"	""	"France"	""	"0"	""	""	""	""
"00396541"	""	""	""	"1"	""	"00000"	"{PMID:Mary 2019:30614526}"	"Fetus: term at 34 gestation weeks"	"F"	""	"France"	""	"0"	""	""	""	""
"00396543"	""	""	""	"1"	""	"00000"	"{PMID:Mary 2019:30614526}"	"Fetus: term at 32 gestation weeks"	"?"	""	"France"	""	"0"	""	""	""	""
"00396545"	""	""	""	"1"	""	"00000"	"{PMID:Mary 2019:30614526}"	"Fetus: term at 26 gestation weeks"	"M"	""	"France"	""	"0"	""	""	""	""
"00396547"	""	""	""	"1"	""	"00000"	"{PMID:Mary 2019:30614526}"	"Fetus: term at 23 gestation weeks"	"F"	""	"France"	""	"0"	""	""	""	""
"00396549"	""	""	""	"1"	""	"00000"	"{PMID:Mary 2019:30614526}"	"Fetus: term at 28 gestation weeks"	"M"	""	"France"	""	"0"	""	""	""	""
"00396551"	""	""	""	"1"	""	"00000"	"{PMID:Mary 2019:30614526}"	"Fetus: term at 24 gestation weeks"	"M"	""	"France"	""	"0"	""	""	""	""
"00396553"	""	""	""	"1"	""	"00000"	"{PMID:Mary 2019:30614526}"	"Fetus: term at 19 gestation weeks"	"F"	""	"France"	""	"0"	""	""	""	""
"00396555"	""	""	""	"1"	""	"00000"	"{PMID:Mary 2019:30614526}"	"Fetus: term at 12 gestation weeks"	"F"	""	"France"	""	"0"	""	""	""	""
"00396557"	""	""	""	"1"	""	"00000"	"{PMID:Mary 2019:30614526}"	"Fetus: term at 22 gestation weeks"	"F"	""	"France"	""	"0"	""	""	""	""
"00396559"	""	""	""	"1"	""	"00000"	"{PMID:Mary 2019:30614526}"	"Fetus: term at 20 gestation weeks"	"M"	""	"France"	""	"0"	""	""	""	""
"00396561"	""	""	""	"1"	""	"00000"	"{PMID:Mary 2019:30614526}"	"Fetus: term at 30 gestation weeks"	"F"	""	"France"	""	"0"	""	""	""	""
"00396563"	""	""	""	"1"	""	"00000"	"{PMID:Mary 2019:30614526}"	"Fetus: term at 23 gestation weeks"	"F"	""	"France"	""	"0"	""	""	""	""
"00397804"	""	""	""	"1"	""	"00006"	"{PMID:Fan 2018:29419890}"	""	""	""	"China"	""	"0"	""	""	""	"U31"
"00399794"	""	""	""	"1"	""	"00006"	"{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}"	""	""	""	"China"	""	"0"	""	""	""	"982"
"00404269"	""	""	"00387460"	"1"	""	"00006"	"{PMID:Alvarez-Satta 2017:28502102}"	"sib"	""	""	"Spain"	""	"0"	""	""	""	""
"00408351"	""	""	""	"1"	""	"00000"	"{PMID:Jacobson 2014:25074776}"	""	"M"	""	"United States"	""	"0"	""	""	""	"P26"
"00408352"	""	""	""	"1"	""	"00000"	"{PMID:Jacobson 2014:25074776}"	""	"M"	""	"United States"	""	"0"	""	""	""	"P27"
"00408353"	""	""	""	"1"	""	"00000"	"{PMID:Jacobson 2014:25074776}"	""	"F"	""	"United States"	""	"0"	""	""	""	"P28"
"00408354"	""	""	""	"1"	""	"00000"	"{PMID:Jacobson 2014:25074776}"	""	"F"	""	"United States"	""	"0"	""	""	""	"P29"
"00408355"	""	""	""	"1"	""	"00000"	"{PMID:Jacobson 2014:25074776}"	""	"M"	""	"United States"	""	"0"	""	""	""	"P30"
"00408356"	""	""	""	"1"	""	"00000"	"{PMID:Jacobson 2014:25074776}"	""	"F"	""	"United States"	""	"0"	""	""	""	"P31"
"00408357"	""	""	""	"1"	""	"00000"	"{PMID:Jacobson 2014:25074776}"	""	"F"	""	"United States"	""	"0"	""	""	""	"P32"
"00408358"	""	""	""	"1"	""	"00000"	"{PMID:Jacobson 2014:25074776}"	""	"M"	""	"United States"	""	"0"	""	""	""	"P33"
"00408359"	""	""	""	"1"	""	"00000"	"{PMID:Jacobson 2014:25074776}"	""	"M"	""	"United States"	""	"0"	""	""	""	"P34"
"00408360"	""	""	""	"1"	""	"00000"	"{PMID:Jacobson 2014:25074776}"	""	"M"	""	"United States"	""	"0"	""	""	""	"P36"
"00408361"	""	""	""	"1"	""	"00000"	"{PMID:Jacobson 2014:25074776}"	""	"F"	""	"United States"	""	"0"	""	""	""	"P37"
"00412473"	""	""	""	"1"	""	"00000"	"{PMID:Brunbjerg Hey 2018:31283077}"	"cell line experiment (derived from patient)"	"F"	""	"Denmark"	""	"0"	""	""	"white"	"KCi001-A"
"00412474"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2020:31997113}"	""	"F"	"no"	"Japan"	""	"0"	""	""	"Japanese"	"KCi001-A"
"00412475"	""	""	""	"1"	""	"00000"	"{PMID:Delvallee 2021:33169370}"	""	""	""	"France"	""	"0"	""	""	""	"A.II-3"
"00412476"	""	""	""	"1"	""	"00000"	"{PMID:Delvallee 2021:33169370}"	""	""	""	"France"	""	"0"	""	""	""	"B.II-1"
"00412477"	""	""	""	"1"	""	"00000"	"{PMID:Delvallee 2021:33169370}"	""	""	""	"France"	""	"0"	""	""	""	"B.II-3"
"00412478"	""	""	""	"1"	""	"00000"	"{PMID:Delvallee 2021:33169370}"	""	""	""	"France"	""	"0"	""	""	""	"B.II-4"
"00412479"	""	""	""	"1"	""	"00000"	"{PMID:Delvallee 2021:33169370}"	""	""	""	"France"	""	"0"	""	""	""	"C.II-1"
"00412480"	""	""	""	"1"	""	"00000"	"{PMID:Delvallee 2021:33169370}"	""	""	""	"France"	""	"0"	""	""	""	"C.II-2"
"00412481"	""	""	""	"1"	""	"00000"	"{PMID:Delvallee 2021:33169370}"	""	""	""	"France"	""	"0"	""	""	""	"D.II-2"
"00412482"	""	""	""	"1"	""	"00000"	"{PMID:Delvallee 2021:33169370}"	""	""	""	"France"	""	"0"	""	""	""	"E.II-3"
"00412483"	""	""	""	"1"	""	"00000"	"{PMID:Delvallee 2021:33169370}"	""	""	""	"France"	""	"0"	""	""	""	"F.II-1"
"00412484"	""	""	""	"1"	""	"00000"	"{PMID:Delvallee 2021:33169370}"	""	""	""	"France"	""	"0"	""	""	""	"G.II-3"
"00412485"	""	""	""	"1"	""	"00000"	"{PMID:Delvallee 2021:33169370}"	""	""	""	"France"	""	"0"	""	""	""	"G.II-4"
"00412486"	""	""	""	"1"	""	"00000"	"{PMID:Delvallee 2021:33169370}"	""	""	""	"France"	""	"0"	""	""	""	"H.II.1"
"00412487"	""	""	""	"1"	""	"00000"	"{PMID:Delvallee 2021:33169370}"	""	""	""	"France"	""	"0"	""	""	""	"I.II-1"
"00414342"	""	""	""	"1"	""	"00000"	"{PMID:Sun 2018:30076350}"	""	"M"	""	"China"	""	"0"	""	""	""	"WHP9"
"00417520"	""	""	""	"1"	""	"00000"	"{PMID:Aldahmesh 2014:24488770}"	"family BBS_DG4, individual a"	"M"	"yes"	"Saudi Arabia"	""	"0"	""	""	""	"BBS_DG4a"
"00417521"	""	""	""	"1"	""	"00000"	"{PMID:Aldahmesh 2014:24488770}"	"family BBS_DG4, individual b"	"F"	"yes"	"Saudi Arabia"	""	"0"	""	""	""	"BBS_DG4b"
"00418497"	""	""	""	"1"	""	"00000"	"{PMID:Li 2004:15137946}"	"family AR291 proband"	"F"	"no"	""	""	"0"	""	""	""	"AR291_03"
"00418498"	""	""	""	"1"	""	"00000"	"{PMID:Li 2004:15137946}"	"family AR291 proband\'s brother"	"M"	"no"	""	""	"0"	""	""	""	"AR291_05"
"00418639"	""	""	""	"1"	""	"00006"	"{PMID:Smaoui 2006:16877420}"	""	""	"yes"	"Tunisia"	""	"0"	""	""	""	"Fam57007"
"00418650"	""	""	""	"1"	""	"00006"	"{PMID:Smaoui 2006:16877420}"	""	""	"yes"	"Tunisia"	""	"0"	""	""	""	""
"00418651"	""	""	""	"1"	""	"00006"	"{PMID:Smaoui 2006:16877420}"	""	""	"yes"	"Tunisia"	""	"0"	""	""	""	""
"00418652"	""	""	""	"1"	""	"00006"	"{PMID:Smaoui 2006:16877420}"	""	""	"yes"	"Tunisia"	""	"0"	""	""	""	""
"00418653"	""	""	""	"1"	""	"00006"	"{PMID:Smaoui 2006:16877420}"	""	""	"yes"	"Tunisia"	""	"0"	""	""	""	""
"00418654"	""	""	""	"1"	""	"00006"	"{PMID:Smaoui 2006:16877420}"	""	""	"yes"	"Tunisia"	""	"0"	""	""	""	""
"00418655"	""	""	""	"1"	""	"00006"	"{PMID:Smaoui 2006:16877420}"	""	""	"yes"	"Tunisia"	""	"0"	""	""	""	""
"00418712"	""	""	""	"1"	""	"00006"	"{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}"	"2-generation family, 1 affected, unaffected parents"	"M"	""	""	""	"0"	""	""	""	"Fam14"
"00426945"	""	""	""	"1"	""	"00000"	"{PMID:Zhu 2022:35456422}"	"family 49, individual 58"	"F"	""	""	""	"0"	""	""	""	"49_58"
"00429620"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00429636"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429909"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00430025"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00446977"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"ARRP-406"
"00447125"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"CRD-856"
"00447500"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"ARRP-417"
"00447604"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"M"	""	"Germany"	""	"0"	""	""	""	"SRP-1126"
"00447622"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"SRP-1289"
"00464557"	""	""	""	"1"	""	"04333"	""	""	"M"	"yes"	"Israel"	""	""	""	""	"Druze"	""
"00465390"	""	""	""	"1"	""	"00006"	"{PMID:Chuan 2021:32552135}"	"analysis 63 cases oculocutaneous albinism"	""	""	"China"	""	"0"	""	""	""	"Pat61"
"00465391"	""	""	""	"1"	""	"00006"	"{PMID:Chuan 2021:32552135}"	"analysis 63 cases oculocutaneous albinism"	""	""	"China"	""	"0"	""	""	""	"Pat62"
"00468695"	""	""	""	"1"	""	"00006"	"{PMID:Retterer 2016:26633542}"	"analysis proband (1/3040); possible combination of variants not reported"	""	""	"United States"	""	"0"	""	""	""	""
"00468696"	""	""	""	"1"	""	"00006"	"{PMID:Retterer 2016:26633542}"	"analysis proband (1/3040); possible combination of variants not reported"	""	""	"United States"	""	"0"	""	""	""	""
"00469576"	""	""	""	"1"	""	"00006"	"{PMID:Retterer 2016:26633542}"	"analysis proband (1/3040); possible combination of variants not reported"	""	""	"United States"	""	"0"	""	""	""	"TabS5-var2"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 472
"{{individualid}}"	"{{diseaseid}}"
"00001787"	"00112"
"00001788"	"00112"
"00081102"	"00058"
"00081418"	"01371"
"00081419"	"01371"
"00088150"	"04212"
"00144157"	"04214"
"00155382"	"04214"
"00155383"	"04214"
"00155384"	"04212"
"00207813"	"04212"
"00233218"	"04214"
"00233219"	"04214"
"00233220"	"04214"
"00233221"	"04214"
"00233222"	"04214"
"00233223"	"04214"
"00233224"	"04214"
"00233225"	"04214"
"00233226"	"04214"
"00233227"	"04214"
"00233228"	"04214"
"00233229"	"04214"
"00233230"	"04214"
"00233231"	"04214"
"00233232"	"04214"
"00233233"	"04214"
"00269434"	"00089"
"00290481"	"00198"
"00290482"	"00198"
"00308475"	"04214"
"00308637"	"04214"
"00308953"	"04214"
"00308954"	"04214"
"00308955"	"04214"
"00308956"	"04214"
"00327395"	"00089"
"00327398"	"00089"
"00327930"	"04214"
"00327941"	"04214"
"00327963"	"04214"
"00328072"	"04214"
"00328083"	"04214"
"00328189"	"04214"
"00328217"	"04214"
"00328483"	"04214"
"00328505"	"04214"
"00331734"	"04214"
"00332193"	"04214"
"00332200"	"04214"
"00332210"	"04214"
"00333396"	"04214"
"00333807"	"04214"
"00333808"	"04214"
"00333809"	"04214"
"00333891"	"04214"
"00333892"	"04214"
"00333920"	"04214"
"00334069"	"04214"
"00334070"	"04214"
"00334071"	"04214"
"00334072"	"04214"
"00334073"	"04214"
"00334074"	"04214"
"00334075"	"04214"
"00334076"	"04214"
"00334077"	"04214"
"00334078"	"04214"
"00334079"	"04214"
"00334080"	"04214"
"00334081"	"04214"
"00335083"	"00198"
"00335084"	"00198"
"00335085"	"00198"
"00358719"	"04214"
"00358810"	"04212"
"00358811"	"04212"
"00358812"	"04212"
"00358813"	"04212"
"00358861"	"05109"
"00358871"	"05109"
"00358947"	"04214"
"00358968"	"04214"
"00359024"	"04214"
"00359025"	"04214"
"00359026"	"04214"
"00359369"	"04214"
"00359372"	"04214"
"00362059"	"00112"
"00362060"	"00112"
"00362061"	"00112"
"00362062"	"00112"
"00363426"	"04214"
"00363427"	"04214"
"00363429"	"04214"
"00373367"	"04214"
"00373822"	"04214"
"00373824"	"04214"
"00373850"	"04214"
"00373880"	"04214"
"00373936"	"04214"
"00374982"	"04214"
"00376798"	"04214"
"00379347"	"04214"
"00379348"	"04214"
"00379349"	"04214"
"00379350"	"04214"
"00379351"	"04214"
"00379352"	"04214"
"00379353"	"04214"
"00379561"	"04214"
"00379572"	"04214"
"00379666"	"04212"
"00380195"	"04214"
"00380362"	"04214"
"00380363"	"04214"
"00381230"	"04214"
"00381701"	"04214"
"00381702"	"04214"
"00382212"	"04214"
"00382213"	"04214"
"00382214"	"04214"
"00382481"	"04214"
"00382482"	"04214"
"00382483"	"04214"
"00382484"	"04214"
"00382485"	"04214"
"00382600"	"04214"
"00383058"	"04214"
"00383074"	"04214"
"00383104"	"04214"
"00383105"	"04214"
"00383106"	"04214"
"00383107"	"04214"
"00383108"	"04214"
"00383109"	"04214"
"00383138"	"04214"
"00383143"	"04214"
"00383187"	"04214"
"00383190"	"04214"
"00383191"	"04214"
"00383192"	"04214"
"00383204"	"04214"
"00383205"	"04214"
"00383208"	"04214"
"00383209"	"04214"
"00383210"	"04214"
"00383211"	"04214"
"00383212"	"04214"
"00383213"	"04214"
"00383214"	"04214"
"00383215"	"04214"
"00383216"	"04214"
"00383217"	"04214"
"00383218"	"04214"
"00383219"	"04214"
"00383220"	"04214"
"00383221"	"04214"
"00383293"	"04214"
"00383303"	"04214"
"00383305"	"04214"
"00383306"	"04214"
"00383329"	"04214"
"00383330"	"04214"
"00383331"	"04214"
"00383332"	"04214"
"00383333"	"04214"
"00383335"	"04214"
"00383337"	"04214"
"00383339"	"04214"
"00383347"	"04214"
"00383352"	"04214"
"00383353"	"04214"
"00383354"	"04214"
"00383355"	"04214"
"00383356"	"04214"
"00383357"	"04214"
"00383362"	"04214"
"00383363"	"04214"
"00383364"	"04214"
"00383365"	"04214"
"00383366"	"04214"
"00383367"	"04214"
"00383368"	"04214"
"00383372"	"04214"
"00383375"	"04214"
"00383463"	"04214"
"00383464"	"04214"
"00383465"	"04214"
"00383657"	"04214"
"00383661"	"04214"
"00384122"	"04214"
"00384123"	"04214"
"00384205"	"04214"
"00384659"	"04214"
"00384660"	"04214"
"00384661"	"04214"
"00384662"	"04214"
"00384663"	"04214"
"00384664"	"04214"
"00384665"	"04214"
"00384666"	"04214"
"00384667"	"04214"
"00384668"	"04214"
"00384669"	"04214"
"00384670"	"04214"
"00384714"	"04214"
"00384726"	"04214"
"00384735"	"04214"
"00384736"	"04214"
"00384784"	"04214"
"00384785"	"04214"
"00384786"	"04214"
"00384787"	"04214"
"00384788"	"04214"
"00384801"	"04214"
"00384802"	"04214"
"00384803"	"04214"
"00384804"	"04214"
"00384805"	"04214"
"00384806"	"04214"
"00384807"	"04214"
"00384813"	"04214"
"00384814"	"04214"
"00384818"	"04214"
"00384825"	"04214"
"00384826"	"04214"
"00384830"	"04214"
"00384831"	"04214"
"00384834"	"04214"
"00384837"	"04214"
"00384838"	"04214"
"00384839"	"04214"
"00385150"	"04214"
"00385151"	"04214"
"00385152"	"04214"
"00385168"	"04214"
"00385169"	"04214"
"00385178"	"04214"
"00385179"	"04214"
"00385180"	"04214"
"00385186"	"04214"
"00385187"	"04214"
"00385188"	"04214"
"00385189"	"04214"
"00385190"	"04214"
"00385191"	"04214"
"00385192"	"04214"
"00385193"	"04214"
"00385194"	"04214"
"00385195"	"04214"
"00385196"	"04214"
"00385197"	"04214"
"00385198"	"04214"
"00385199"	"04214"
"00385200"	"04214"
"00385201"	"04214"
"00385228"	"04214"
"00385239"	"04214"
"00385241"	"04214"
"00385246"	"04214"
"00385248"	"04214"
"00385249"	"04214"
"00385273"	"04214"
"00385274"	"04214"
"00385277"	"04214"
"00385278"	"04214"
"00385279"	"04214"
"00385280"	"04214"
"00385288"	"04214"
"00385289"	"04214"
"00385290"	"04214"
"00385291"	"04214"
"00385292"	"04214"
"00385293"	"04214"
"00385294"	"04214"
"00385295"	"04214"
"00385296"	"04214"
"00385297"	"04214"
"00385298"	"04214"
"00385299"	"04214"
"00385317"	"04214"
"00385318"	"04214"
"00385319"	"04214"
"00385320"	"04214"
"00385321"	"04214"
"00385322"	"04214"
"00385323"	"04214"
"00385324"	"04214"
"00385325"	"04214"
"00385326"	"04214"
"00385327"	"04214"
"00385328"	"04214"
"00385329"	"04214"
"00385330"	"04214"
"00385337"	"04214"
"00385362"	"04214"
"00385374"	"04214"
"00385384"	"04214"
"00385385"	"04214"
"00385388"	"04214"
"00385562"	"04214"
"00385572"	"04214"
"00385573"	"04214"
"00385574"	"04214"
"00385575"	"04214"
"00385589"	"04214"
"00385591"	"04214"
"00385592"	"04214"
"00385593"	"04214"
"00385594"	"04214"
"00385622"	"04214"
"00385623"	"04214"
"00385624"	"04214"
"00385640"	"04214"
"00386602"	"04214"
"00386709"	"04214"
"00386846"	"04214"
"00386861"	"04214"
"00387131"	"04214"
"00387442"	"04214"
"00387443"	"04214"
"00387444"	"04214"
"00387445"	"04214"
"00387446"	"04214"
"00387447"	"04214"
"00387448"	"04214"
"00387449"	"04214"
"00387450"	"04214"
"00387451"	"04214"
"00387452"	"04214"
"00387453"	"04214"
"00387454"	"04214"
"00387455"	"04214"
"00387456"	"04214"
"00387457"	"04214"
"00387458"	"04214"
"00387459"	"04214"
"00387460"	"04214"
"00387461"	"04214"
"00387462"	"04214"
"00387463"	"04214"
"00387464"	"04214"
"00387465"	"04214"
"00387466"	"04214"
"00387467"	"04214"
"00387468"	"04214"
"00387469"	"04214"
"00387470"	"04214"
"00387471"	"04214"
"00387472"	"04214"
"00387473"	"04214"
"00387474"	"04214"
"00387554"	"04214"
"00387582"	"04214"
"00387583"	"04214"
"00388027"	"04214"
"00388028"	"04214"
"00388035"	"04214"
"00388036"	"04214"
"00388037"	"04214"
"00388038"	"04214"
"00388039"	"04214"
"00388040"	"04214"
"00388041"	"04214"
"00388145"	"04214"
"00388526"	"04214"
"00388554"	"04214"
"00388732"	"04214"
"00388733"	"04214"
"00388747"	"04214"
"00388748"	"04214"
"00388768"	"04214"
"00388822"	"04214"
"00388836"	"04214"
"00388867"	"04214"
"00388879"	"04214"
"00388934"	"04214"
"00389527"	"04214"
"00389595"	"04214"
"00389735"	"04214"
"00389928"	"04214"
"00389953"	"04214"
"00389958"	"04214"
"00389967"	"04214"
"00390040"	"04214"
"00390169"	"04214"
"00390170"	"04214"
"00390171"	"04214"
"00390172"	"04214"
"00391573"	"04214"
"00393966"	"04214"
"00394359"	"04214"
"00395586"	"00198"
"00395603"	"04214"
"00395604"	"04214"
"00395610"	"04214"
"00395618"	"04214"
"00396430"	"04214"
"00396470"	"04214"
"00396539"	"04214"
"00396541"	"04214"
"00396543"	"04214"
"00396545"	"04214"
"00396547"	"04214"
"00396549"	"04214"
"00396551"	"04214"
"00396553"	"04214"
"00396555"	"04214"
"00396557"	"04214"
"00396559"	"04214"
"00396561"	"04214"
"00396563"	"04214"
"00397804"	"05121"
"00399794"	"06892"
"00404269"	"00000"
"00408351"	"04214"
"00408352"	"04214"
"00408353"	"04214"
"00408354"	"04214"
"00408355"	"04214"
"00408356"	"04214"
"00408357"	"04214"
"00408358"	"04214"
"00408359"	"04214"
"00408360"	"04214"
"00408361"	"04214"
"00412473"	"04214"
"00412474"	"04214"
"00412475"	"04214"
"00412476"	"04214"
"00412477"	"04214"
"00412478"	"04214"
"00412479"	"04214"
"00412480"	"04214"
"00412481"	"04214"
"00412482"	"04214"
"00412483"	"04214"
"00412484"	"04214"
"00412485"	"04214"
"00412486"	"04214"
"00412487"	"04214"
"00414342"	"00198"
"00417520"	"04212"
"00417521"	"04212"
"00418497"	"04212"
"00418498"	"04212"
"00418639"	"04212"
"00418650"	"04212"
"00418651"	"04212"
"00418652"	"04212"
"00418653"	"04212"
"00418654"	"04212"
"00418655"	"04212"
"00418712"	"05611"
"00426945"	"04214"
"00429620"	"00112"
"00429636"	"04214"
"00429909"	"00112"
"00430025"	"00112"
"00446977"	"00198"
"00447125"	"00198"
"00447500"	"00198"
"00447604"	"00198"
"00447622"	"00198"
"00464557"	"00089"
"00464557"	"05086"
"00465390"	"05207"
"00465391"	"05207"
"00468695"	"00198"
"00468696"	"00198"
"00469576"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00058, 00089, 00112, 00139, 00198, 01371, 04212, 04214, 05086, 05109, 05121, 05207, 05611, 06892
## Count = 441
"{{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}}"
"0000060671"	"00058"	"00081102"	"01763"	"Unknown"	""	""	""	"28y"	""	""	""	""	""	""	""	""	""
"0000060981"	"01371"	"00081418"	"01706"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000060982"	"01371"	"00081419"	"01706"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000116935"	"04214"	"00144157"	"01780"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000127882"	"04214"	"00155382"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000127883"	"04214"	"00155383"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000127884"	"04212"	"00155384"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"BBS"	""
"0000155597"	"04212"	"00207813"	"00006"	"Familial, autosomal recessive"	""	"best corrected visual acuity right, left eye (14y): 20/400, 20/600; anterior segment: normal; retinal exam (15y): macular atrophy, vessel attenuation, bone spicules; electroretinogram amplitude (1y): severe rod-cone dystrophy; neurological findings (13y): absent seizures, autism, normal brain magnetic resonance imaging, head circumference: 57 cm; kidney (age 13y): normal structure and function; liver (age 13y): fatty infiltration, normal transaminases; lipidsa (age 13y) cholesterol 6.4 mmol/l (elevated); triglyceride: 8.63 mmol/L (elevated); heart: situs solitus, levocardia; spleen: mild splenomegaly; digits: postaxial polydactyly in 3 limbs; weight: BMI 38.9; menarche: 13y; development: delayed; other: recurrent ear infections, strabism"	""	""	""	"anna_tracewska"	""	""	""	""	"BBS-1"	"Bardet-Biedl syndrome"	""
"0000207257"	"00089"	"00269434"	"03508"	"Familial, autosomal recessive"	""	"severe obesity, polydactylyl, amenorrhea"	""	""	""	""	""	""	""	""	""	""	""
"0000233903"	"04214"	"00308475"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000234065"	"04214"	"00308637"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000234273"	"04214"	"00308953"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000234274"	"04214"	"00308954"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"BBS"	""
"0000234275"	"04214"	"00308955"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"BBS"	""
"0000234276"	"04214"	"00308956"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000245689"	"00089"	"00327395"	"03980"	"Familial, autosomal recessive"	"13y"	""	""	""	""	""	""	""	""	""	"Bardet-Biedl Syndrome"	"Nonsyndromic Retinitis Pigmentosa"	""
"0000245690"	"00089"	"00327398"	"03980"	"Familial, autosomal recessive"	"12y"	"Fundus/History: Mild pigment mottling in macular\r\n\r\nOcular Coherence Tomography: Parafoveal loss of  the ellipsoid zone\r\n\r\nElectroretinogram: Rod-cone dystrophy; cone flicker reduced ; 10 Hz dim flicker not recordable"	""	""	""	""	""	""	""	""	"Bardet-Biedl Syndrome"	"Nonsyndromic Retinitis Pigmentosa"	""
"0000246157"	"04214"	"00327930"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000246168"	"04214"	"00327941"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000246190"	"04214"	"00327963"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000246299"	"04214"	"00328072"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000246310"	"04214"	"00328083"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000246416"	"04214"	"00328189"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000246444"	"04214"	"00328217"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000246709"	"04214"	"00328483"	"00000"	"Familial, autosomal recessive"	"8y"	"cone-rod dystrophy (HP:0000510)"	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000246731"	"04214"	"00328505"	"00000"	"Familial, autosomal recessive"	"1y"	"retinal dystrophy (HP:0000556), polydactyly (HP:0010442), obesity (HP:0001513)"	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000249926"	"04214"	"00331734"	"00000"	"Familial, autosomal recessive"	""	"retinitis pigmentosa, intellectual disability, overweight since infancy, brachydactyly, chronic renal failure, renal transplant"	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome"	""
"0000250380"	"04214"	"00332193"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000250387"	"04214"	"00332200"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""
"0000250397"	"04214"	"00332210"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000251583"	"04214"	"00333396"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"RP"	""
"0000251992"	"04214"	"00333807"	"00000"	"Familial, autosomal recessive"	"36y"	"clinical category IA1a"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000251993"	"04214"	"00333808"	"00000"	"Familial, autosomal recessive"	"37y"	"clinical category IA1a"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa and Pendred syndrome"	""
"0000251994"	"04214"	"00333809"	"00000"	"Familial, autosomal recessive"	"21y"	"clinical category IA1a"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252076"	"04214"	"00333891"	"00000"	"Familial, autosomal recessive"	"38y"	"clinical category IA1aiii"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252077"	"04214"	"00333892"	"00000"	"Familial, autosomal recessive"	"9y"	"clinical category IA1aiii"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252105"	"04214"	"00333920"	"00000"	"Familial, autosomal recessive"	"29y"	"clinical category IA1b"	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""
"0000252254"	"04214"	"00334069"	"00000"	"Familial, autosomal recessive"	"41y"	"clinical category IB2"	""	""	""	""	""	""	""	""	""	"Bardet Biedl syndrome"	""
"0000252255"	"04214"	"00334070"	"00000"	"Familial, autosomal recessive"	"14y"	"clinical category IB2"	""	""	""	""	""	""	""	""	""	"Bardet Biedl syndrome"	""
"0000252256"	"04214"	"00334071"	"00000"	"Familial, autosomal recessive"	"44y"	"clinical category IB2"	""	""	""	""	""	""	""	""	""	"Bardet Biedl syndrome"	""
"0000252257"	"04214"	"00334072"	"00000"	"Familial, autosomal recessive"	"47y"	"clinical category IB2"	""	""	""	""	""	""	""	""	""	"Bardet Biedl syndrome"	""
"0000252258"	"04214"	"00334073"	"00000"	"Familial, autosomal recessive"	"35y"	"clinical category IB2"	""	""	""	""	""	""	""	""	""	"Bardet Biedl syndrome"	""
"0000252259"	"04214"	"00334074"	"00000"	"Familial, autosomal recessive"	"57y"	"clinical category IB2"	""	""	""	""	""	""	""	""	""	"Bardet Biedl syndrome"	""
"0000252260"	"04214"	"00334075"	"00000"	"Familial, autosomal recessive"	"29y"	"clinical category IB2"	""	""	""	""	""	""	""	""	""	"Bardet Biedl syndrome"	""
"0000252261"	"04214"	"00334076"	"00000"	"Familial, autosomal recessive"	"49y"	"clinical category IB2"	""	""	""	""	""	""	""	""	""	"Bardet Biedl syndrome"	""
"0000252262"	"04214"	"00334077"	"00000"	"Familial, autosomal recessive"	"32y"	"clinical category IB2"	""	""	""	""	""	""	""	""	""	"Bardet Biedl syndrome"	""
"0000252263"	"04214"	"00334078"	"00000"	"Familial, autosomal recessive"	"17y"	"clinical category IB2"	""	""	""	""	""	""	""	""	""	"Bardet Biedl syndrome"	""
"0000252264"	"04214"	"00334079"	"00000"	"Familial, autosomal recessive"	"51y"	"clinical category IB2"	""	""	""	""	""	""	""	""	""	"Bardet Biedl syndrome"	""
"0000252265"	"04214"	"00334080"	"00000"	"Familial, autosomal recessive"	"36y"	"clinical category IB2"	""	""	""	""	""	""	""	""	""	"Bardet Biedl syndrome"	""
"0000252266"	"04214"	"00334081"	"00000"	"Familial, autosomal recessive"	"16y"	"clinical category IB2"	""	""	""	""	""	""	""	""	""	"Bardet Biedl syndrome"	""
"0000252798"	"00198"	"00335083"	"00000"	"Unknown"	""	"28y-diagnosis visual impairment"	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000252799"	"00198"	"00335084"	"00000"	"Unknown"	""	"Bardet Biedl-like syndrome; 10y-diagnosis visual impairment"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252800"	"00198"	"00335085"	"00000"	"Unknown"	""	"Bardet Biedl syndrome; 11y-diagnosis visual impairment"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253934"	"04214"	"00358719"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome"	""
"0000254025"	"04212"	"00358810"	"00000"	"Unknown"	"9y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Bardet-Biedl Syndrome"	""
"0000254026"	"04212"	"00358811"	"00000"	"Unknown"	"4y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Bardet-Biedl Syndrome"	""
"0000254027"	"04212"	"00358812"	"00000"	"Unknown"	"21y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Bardet-Biedl Syndrome"	""
"0000254028"	"04212"	"00358813"	"00000"	"Unknown"	"12y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Bardet-Biedl Syndrome"	""
"0000254119"	"05109"	"00358861"	"00000"	"Familial, autosomal recessive"	""	"severe intellectual disability; severe developmental delay; hypotonia, neonatal dysregulated breathing; retina problems; no coloboma; kidney problems; no liver symptoms; encephalocele; polydactyly"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000254129"	"05109"	"00358871"	"00000"	"Familial, autosomal recessive"	""	"moderate intellectual disability; severe developmental delay; hypotonia, neonatal dysregulated breathing; retina problems; coloboma; no kidney problems; no liver symptoms; no encephalocele; no polydactyly"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000254245"	"04214"	"00358947"	"00000"	"Familial"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000254266"	"04214"	"00358968"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000254321"	"04214"	"00359024"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome"	""
"0000254322"	"04214"	"00359025"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome"	""
"0000254323"	"04214"	"00359026"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome"	""
"0000254640"	"04214"	"00359369"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000254643"	"04214"	"00359372"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000257472"	"00112"	"00362059"	"04043"	"Familial, autosomal recessive"	""	"cataract and nystagmus"	""	""	""	""	""	""	""	""	""	""	""
"0000257474"	"00089"	"00362060"	"04043"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000257475"	"00112"	"00362061"	"04043"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000257476"	"00112"	"00362062"	"04043"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000258787"	"04214"	"00363426"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Bardet Biedl syndrome"	""
"0000258788"	"04214"	"00363427"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Bardet Biedl syndrome"	""
"0000258790"	"04214"	"00363429"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Bardet Biedl syndrome"	""
"0000268643"	"04214"	"00373367"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000269031"	"04214"	"00373822"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000269033"	"04214"	"00373824"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"BBS1"	"Bardet-Biedl syndrome"	""
"0000269059"	"04214"	"00373850"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000269089"	"04214"	"00373880"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"ciliopathy"	""
"0000269145"	"04214"	"00373936"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270192"	"04214"	"00374982"	"00000"	"Familial, autosomal recessive"	"3y"	"3y-night blindenss, diminished visual acuity (3y) and visual field (3y); polydactyly, intellectual disability"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000272009"	"04214"	"00376798"	"00000"	"Unknown"	"17y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000273220"	"04214"	"00379347"	"00000"	"Familial, autosomal recessive"	""	"polydactyly, obesity, hypogonadism, renal anomalies"	""	""	""	""	""	""	""	""	""	"Bardete Biedl syndrome"	""
"0000273221"	"04214"	"00379348"	"00000"	"Familial, autosomal recessive"	""	"Retinitis pigmentosa, polydactyly, obesity, mental retardation, developmental delay, short stature"	""	""	""	""	""	""	""	""	""	"Bardete Biedl syndrome"	""
"0000273222"	"04214"	"00379349"	"00000"	"Familial, autosomal recessive"	""	"Retinitis pigmentosa, polydactyly, obesity, renal anomalies, mental retardation, delay in pubescence, developmental delay, short stature"	""	""	""	""	""	""	""	""	""	"Bardete Biedl syndrome"	""
"0000273223"	"04214"	"00379350"	"00000"	"Familial, autosomal recessive"	""	"Retinitis pigmentosa, hypogonadism, developmental delay, schizoid/bipolardisorder"	""	""	""	""	""	""	""	""	""	"Bardete Biedl syndrome"	""
"0000273224"	"04214"	"00379351"	"00000"	"Familial, autosomal recessive"	""	"Retinitis pigmentosa, polydactyly, obesity, hypogonadism, mental retardation, developmental delay, seizures"	""	""	""	""	""	""	""	""	""	"Bardete Biedl syndrome"	""
"0000273225"	"04214"	"00379352"	"00000"	"Familial, autosomal recessive"	""	"Retinitis pigmentosa, polydactyly, obesity, renal anomalies, mental retardation, developmental delay, brachycephaly, hypotonia, chronic otitis media"	""	""	""	""	""	""	""	""	""	"Bardete Biedl syndrome"	""
"0000273226"	"04214"	"00379353"	"00000"	"Familial, autosomal recessive"	""	"polydactyly, obesity"	""	""	""	""	""	""	""	""	""	"Bardete Biedl syndrome"	""
"0000273510"	"04212"	"00379666"	"03508"	"Familial, autosomal recessive"	""	"HP:0000662,\tHP:0001133,\tHP:0000639,\tHP:0000551,\tHP:0000365,\tHP:0000007,\tHP:0001513,\tHP:0010442"	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000274050"	"04214"	"00380195"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000274213"	"04214"	"00380362"	"00000"	"Familial, autosomal recessive"	"14y"	"retinitis pigmentaria"	""	""	""	""	""	""	""	""	""	"Bardet–Biedl syndrome"	""
"0000274214"	"04214"	"00380363"	"00000"	"Familial, autosomal recessive"	"4y"	"retinitis pigmentaria"	""	""	""	""	""	""	""	""	""	"Bardet–Biedl syndrome"	""
"0000275081"	"04214"	"00381230"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"juvenile retinitis pigmentosa"	""
"0000275543"	"04214"	"00381701"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa Simplex"	""
"0000275544"	"04214"	"00381702"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa Simplex"	""
"0000276061"	"04214"	"00382212"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Unspecified syndrome"	""
"0000276062"	"04214"	"00382213"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Unspecified syndrome"	""
"0000276063"	"04214"	"00382214"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome"	""
"0000276330"	"04214"	"00382481"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276331"	"04214"	"00382482"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276332"	"04214"	"00382483"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Usher syndrome"	""
"0000276333"	"04214"	"00382484"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276334"	"04214"	"00382485"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276449"	"04214"	"00382600"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276848"	"04214"	"00383058"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000276864"	"04214"	"00383074"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000276894"	"04214"	"00383104"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl syndrome (BBS)"	""
"0000276895"	"04214"	"00383105"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl syndrome (BBS)"	""
"0000276896"	"04214"	"00383106"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl syndrome (BBS) multiplex"	""
"0000276897"	"04214"	"00383107"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl syndrome (BBS)"	""
"0000276898"	"04214"	"00383108"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl syndrome (BBS)"	""
"0000276899"	"04214"	"00383109"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl syndrome (BBS)"	""
"0000276928"	"04214"	"00383138"	"00000"	"Familial, autosomal recessive"	""	"obesity, polydactyly"	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000276933"	"04214"	"00383143"	"00000"	"Familial, autosomal recessive"	""	"obesity, polydactyly"	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000276974"	"04214"	"00383187"	"00000"	"Familial, autosomal recessive"	""	"Obese, Dev delayed"	"20y10m"	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000276977"	"04214"	"00383190"	"00000"	"Familial, autosomal recessive"	""	"Obese, Polydactyly, Kidney anomaly, Dev delayed, Liver anomaly"	"15y10m"	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000276978"	"04214"	"00383191"	"00000"	"Familial, autosomal recessive"	""	"Obese, Brachydactyly"	"28y6m"	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000276979"	"04214"	"00383192"	"00000"	"Familial, autosomal recessive"	""	"Overweight, Polydactyly, Learning disability"	"20y7m"	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000276991"	"04214"	"00383204"	"00000"	"Familial, autosomal recessive"	"10y"	"retinitis pigmentosa, obesity, polydactyly, mental retardation, developmental delayEP,"	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000276992"	"04214"	"00383205"	"00000"	"Familial, autosomal recessive"	"7y"	"retinitis pigmentosa, severe obesity, polydactyly, mental retardation, developmental delaySeizures"	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000276995"	"04214"	"00383208"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000276996"	"04214"	"00383209"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000276997"	"04214"	"00383210"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000276998"	"04214"	"00383211"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000276999"	"04214"	"00383212"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000277000"	"04214"	"00383213"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000277001"	"04214"	"00383214"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000277002"	"04214"	"00383215"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000277003"	"04214"	"00383216"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000277004"	"04214"	"00383217"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000277005"	"04214"	"00383218"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000277006"	"04214"	"00383219"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000277007"	"04214"	"00383220"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000277008"	"04214"	"00383221"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000277078"	"04214"	"00383293"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000277088"	"04214"	"00383303"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000277090"	"04214"	"00383305"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000277091"	"04214"	"00383306"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000277114"	"04214"	"00383329"	"00000"	"Familial, autosomal recessive"	"9y"	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000277115"	"04214"	"00383330"	"00000"	"Familial, autosomal recessive"	"7y"	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000277116"	"04214"	"00383331"	"00000"	"Familial, autosomal recessive"	"32y"	""	"17y"	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000277117"	"04214"	"00383332"	"00000"	"Familial, autosomal recessive"	"35y"	""	"13y"	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000277118"	"04214"	"00383333"	"00000"	"Familial, autosomal recessive"	"37y"	""	"32y"	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000277120"	"04214"	"00383335"	"00000"	"Familial, autosomal recessive"	"18y"	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000277122"	"04214"	"00383337"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000277124"	"04214"	"00383339"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000277132"	"04214"	"00383347"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000277137"	"04214"	"00383352"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000277138"	"04214"	"00383353"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000277139"	"04214"	"00383354"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000277140"	"04214"	"00383355"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000277141"	"04214"	"00383356"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000277142"	"04214"	"00383357"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000277147"	"04214"	"00383362"	"00000"	"Complex"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000277148"	"04214"	"00383363"	"00000"	"Complex"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000277149"	"04214"	"00383364"	"00000"	"Complex"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000277150"	"04214"	"00383365"	"00000"	"Complex"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000277151"	"04214"	"00383366"	"00000"	"Complex"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000277152"	"04214"	"00383367"	"00000"	"Complex"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000277153"	"04214"	"00383368"	"00000"	"Complex"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000277157"	"04214"	"00383372"	"00000"	"Complex"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000277160"	"04214"	"00383375"	"00000"	"Complex"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000277248"	"04214"	"00383463"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome"	""
"0000277249"	"04214"	"00383464"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome"	""
"0000277250"	"04214"	"00383465"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome"	""
"0000277442"	"04214"	"00383657"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl syndro"	""
"0000277446"	"04214"	"00383661"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl syndro"	""
"0000277907"	"04214"	"00384122"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277908"	"04214"	"00384123"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277990"	"04214"	"00384205"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000278442"	"04214"	"00384659"	"00000"	"Familial, autosomal recessive"	"15y"	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000278443"	"04214"	"00384660"	"00000"	"Familial, autosomal recessive"	"26y"	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000278444"	"04214"	"00384661"	"00000"	"Familial, autosomal recessive"	"7y4m"	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000278445"	"04214"	"00384662"	"00000"	"Familial, autosomal recessive"	"25y6m"	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000278446"	"04214"	"00384663"	"00000"	"Familial, autosomal recessive"	"31y"	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000278447"	"04214"	"00384664"	"00000"	"Familial, autosomal recessive"	"13y4m"	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000278448"	"04214"	"00384665"	"00000"	"Familial, autosomal recessive"	"19y4m"	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000278449"	"04214"	"00384666"	"00000"	"Familial, autosomal recessive"	"27y"	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000278450"	"04214"	"00384667"	"00000"	"Familial, autosomal recessive"	"19y6m"	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000278451"	"04214"	"00384668"	"00000"	"Familial, autosomal recessive"	"20y"	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000278452"	"04214"	"00384669"	"00000"	"Familial, autosomal recessive"	"14y"	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000278453"	"04214"	"00384670"	"00000"	"Familial, autosomal recessive"	"25y"	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000278497"	"04214"	"00384714"	"00000"	"Familial, autosomal recessive"	"6y"	"digit anomaly, moderate cognitive impairment"	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000278509"	"04214"	"00384726"	"00000"	"Familial, autosomal recessive"	""	"phenotypes overlapping with MKKS and ALMS (non-alcoholic, steatohepatitis, gynaecomasty, asthma, cryptorchidism, scoliosis, osteopenia, gum disease and endocrine anomalies)"	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000278518"	"04214"	"00384735"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000278519"	"04214"	"00384736"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000278567"	"04214"	"00384784"	"00000"	"Familial, autosomal recessive"	""	"obesity, mental retardation, renal disease, polydactyly, aopy, typical facies, ventricular septal defect, hypogenitalism"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa (RP)"	""
"0000278568"	"04214"	"00384785"	"00000"	"Familial, autosomal recessive"	""	"obesity, mental retardation, renal disease, polydactyly, aopy, typical facies, ventricular septal defect, hypogenitalism"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa (RP)"	""
"0000278569"	"04214"	"00384786"	"00000"	"Familial, autosomal recessive"	""	"obesity, mental retardation, polydactyly, typical facies"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa (RP)"	""
"0000278570"	"04214"	"00384787"	"00000"	"Familial, autosomal recessive"	""	"obesity, mental retardation, typical facies"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa (RP)"	""
"0000278571"	"04214"	"00384788"	"00000"	"Familial, autosomal recessive"	""	"obesity, mental retardation, polydactyly, aopy, typical facies, hypogenitalism"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa (RP)"	""
"0000278584"	"04214"	"00384801"	"00000"	"Familial, autosomal recessive"	""	"obesity, mental retardation, brachydactyly, aopy, typical facies"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa (RP)"	""
"0000278585"	"04214"	"00384802"	"00000"	"Familial, autosomal recessive"	""	"obesity, mental retardation, brachydactyly, aopy, typical facies, hypogenitalism"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa (RP)"	""
"0000278586"	"04214"	"00384803"	"00000"	"Familial, autosomal recessive"	""	"obesity, mental retardation, polydactyly, typical facies, hypogenitalism"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa (RP)"	""
"0000278587"	"04214"	"00384804"	"00000"	"Familial, autosomal recessive"	""	"obesity, mental retardation, polydactyly, typical facies"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa (RP)"	""
"0000278588"	"04214"	"00384805"	"00000"	"Familial, autosomal recessive"	""	"polydactyly, aopy, typical facies"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa (RP)"	""
"0000278589"	"04214"	"00384806"	"00000"	"Familial, autosomal recessive"	""	"polydactyly, typical facies"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa (RP)"	""
"0000278590"	"04214"	"00384807"	"00000"	"Familial, autosomal recessive"	""	"polydactyly, deafness, aopy, typical facies"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa (RP)"	""
"0000278596"	"04214"	"00384813"	"00000"	"Familial, autosomal recessive"	""	"obesity, mental retardation, polydactyly, deafness, typical facies, hypogenitalism"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa (RP)"	""
"0000278597"	"04214"	"00384814"	"00000"	"Familial, autosomal recessive"	""	"obesity, mental retardation, renal disease, polydactyly, typical facies, hypogenitalism"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa (RP)"	""
"0000278601"	"04214"	"00384818"	"00000"	"Familial, autosomal recessive"	""	"obesity, learning disabilities, polydactyly, aopy, hypogenitalism"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa (RP)"	""
"0000278608"	"04214"	"00384825"	"00000"	"Familial, autosomal recessive"	""	"obesity, mental retardation, polydactyly, typical facies"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa (RP)"	""
"0000278609"	"04214"	"00384826"	"00000"	"Familial, autosomal recessive"	""	"obesity, mental retardation, polydactyly, typical facies"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa (RP)"	""
"0000278613"	"04214"	"00384830"	"00000"	"Familial, autosomal recessive"	""	"obesity, mental retardation, polydactyly, typical facies, hypogenitalism"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa (RP)"	""
"0000278614"	"04214"	"00384831"	"00000"	"Familial, autosomal recessive"	""	"obesity, mental retardation, polydactyly, typical facies, hypogenitalism"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa (RP)"	""
"0000278617"	"04214"	"00384834"	"00000"	"Familial, autosomal recessive"	""	"obesity, polydactyly"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa (RP)"	""
"0000278620"	"04214"	"00384837"	"00000"	"Familial, autosomal recessive"	""	"obesity, polydactyly, hypogenitalism"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa (RP)"	""
"0000278621"	"04214"	"00384838"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa (RP)"	""
"0000278622"	"04214"	"00384839"	"00000"	"Familial, autosomal recessive"	""	"obesity, mental retardation, polydactyly, deafness,"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa (RP)"	""
"0000278946"	"04214"	"00385150"	"00000"	"Familial, autosomal recessive"	"36y1m"	"HP:0000510 Rod-cone dystrophy;  HP:0010442 Polydactyly; HP:0008915 Childhood-onset truncal obesity; HP:0012434 Delayed social development;  HP:0010176 Curved phalanges of the toes;"	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome"	"Bardet-Biedl syndrome"	""
"0000278947"	"04214"	"00385151"	"00000"	"Familial, autosomal recessive"	"41y4m"	"HP:0000510 Rod-cone dystrophy; HP:0010442 Polydactyly; HP:0001249 Intellectual disability;"	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome"	"Bardet-Biedl syndrome"	""
"0000278948"	"04214"	"00385152"	"00000"	"Familial, autosomal recessive"	"22y1m"	"HP:0000510 Rod-cone dystrophy; HP:0001256 Intellectual disability, mild; HP:0011098 Verbal dyspraxia; HP:0001270 Motor delay; HP:0001156 Brachydactyly; HP:0001159 Syndactyly; HP:0000483 Astigmatism; HP:0011003 Severe Myopia; HP:0000098 Tall stature; HP:0025502 Overweight;"	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome"	"Bardet-Biedl syndrome"	""
"0000278964"	"04214"	"00385168"	"00000"	"Familial, autosomal recessive"	"8y6m"	"HP:0000662 Nyctalopia; HP:0000510 Rod-cone dystrophy; HP:0001249 Intellectual disability"	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome type 1"	""
"0000278965"	"04214"	"00385169"	"00000"	"Familial, autosomal recessive"	"36y2m"	"HP:0000510 Rod-cone dystrophy; HP:0010442 Polydactyly; HP:0002099 Asthma; HP:0100502 Vitamin B12 deficiency"	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome type 1"	""
"0000278974"	"04214"	"00385178"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000278975"	"04214"	"00385179"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000278976"	"04214"	"00385180"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000278982"	"04214"	"00385186"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000278983"	"04214"	"00385187"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000278984"	"04214"	"00385188"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000278985"	"04214"	"00385189"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000278986"	"04214"	"00385190"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000278987"	"04214"	"00385191"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000278988"	"04214"	"00385192"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000278989"	"04214"	"00385193"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000278990"	"04214"	"00385194"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000278991"	"04214"	"00385195"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000278992"	"04214"	"00385196"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000278993"	"04214"	"00385197"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000278994"	"04214"	"00385198"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000278995"	"04214"	"00385199"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000278996"	"04214"	"00385200"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000278997"	"04214"	"00385201"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279024"	"04214"	"00385228"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279035"	"04214"	"00385239"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279037"	"04214"	"00385241"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279042"	"04214"	"00385246"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279044"	"04214"	"00385248"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279045"	"04214"	"00385249"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279069"	"04214"	"00385273"	"00000"	"Familial, autosomal recessive"	"21y"	"obesity, retinitis pigmentosa, mental retardation, diabetes mellitus"	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279070"	"04214"	"00385274"	"00000"	"Familial, autosomal recessive"	"29y"	"obesity, retinitis pigmentosa, polydactyly, visual impairment"	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279073"	"04214"	"00385277"	"00000"	"Familial, autosomal recessive"	"5y"	"obesity, retinitis pigmentosa, polydactyly, hypogenitalism, neonatal hypotonia, visual impairment"	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279074"	"04214"	"00385278"	"00000"	"Familial, autosomal recessive"	"32y"	"obesity, retinitis pigmentosa, hypogenitalism, mental retardation, visual impairment"	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279075"	"04214"	"00385279"	"00000"	"Familial, autosomal recessive"	"40y"	"obesity, retinitis pigmentosamental retardation, visual impairment"	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279076"	"04214"	"00385280"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279084"	"04214"	"00385288"	"00000"	"Familial, autosomal recessive"	"39y"	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279085"	"04214"	"00385289"	"00000"	"Familial, autosomal recessive"	"28y"	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279086"	"04214"	"00385290"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279087"	"04214"	"00385291"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279088"	"04214"	"00385292"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279089"	"04214"	"00385293"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279090"	"04214"	"00385294"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279091"	"04214"	"00385295"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279092"	"04214"	"00385296"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279093"	"04214"	"00385297"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279094"	"04214"	"00385298"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279095"	"04214"	"00385299"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279113"	"04214"	"00385317"	"00000"	"Familial, autosomal recessive"	"30y"	"retinal dystrophy, weight anomaly, digit anomaly,"	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279114"	"04214"	"00385318"	"00000"	"Familial, autosomal recessive"	"24y4m"	"retinal dystrophy, weight anomaly, developmental delay, developmental delay, developmental delay, renal structure anomaly, Liver fx"	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279115"	"04214"	"00385319"	"00000"	"Familial, autosomal recessive"	"29y1m"	"retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, Diabetes (II), HBP, Liver fx, DislipidemiaSeizures"	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279116"	"04214"	"00385320"	"00000"	"Familial, autosomal recessive"	"18y4m"	"retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, renal structure anomaly, Liver str, Liver fx, Hyperinsulinemia, Dislipidemia, Acanthosis nigricansLow set ears, Hypotonia, UTIs, Vocal cord cyst, Abnormal teeth"	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279117"	"04214"	"00385321"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279118"	"04214"	"00385322"	"00000"	"Familial, autosomal recessive"	"24y7m"	"retinal dystrophy, weight anomaly, digit anomaly, developmental delay, developmental delay, developmental delay, Dislipidemia, Asthma, HyperinsulinemiaDepression"	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279119"	"04214"	"00385323"	"00000"	"Familial, autosomal recessive"	"25y4m"	"retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, Irr menses, scoliosis, Dislipidemia"	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279120"	"04214"	"00385324"	"00000"	"Familial, autosomal recessive"	"8y6m"	"retinal dystrophy, weight anomaly, digit anomaly, developmental delay, developmental delay, developmental delay, renal structure anomaly, Liver str, Diabetes, Asthma, DislipidemiaOutset gait, genu valgum, Growth hormone"	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279121"	"04214"	"00385325"	"00000"	"Familial, autosomal recessive"	"15y1m"	"retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, cognitive impairement, cognitive impairement, Heart anomaly, Asthma"	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279122"	"04214"	"00385326"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279123"	"04214"	"00385327"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279124"	"04214"	"00385328"	"00000"	"Familial, autosomal recessive"	"9y"	"retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, renal structure anomaly, Dislipidemia, Asthma,Sleep apnea, Teeth crowding, Ataxia"	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279125"	"04214"	"00385329"	"00000"	"Familial, autosomal recessive"	"20y11m"	"retinal dystrophy, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, renal structure anomaly, AsthmaAbnormal teeth"	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279126"	"04214"	"00385330"	"00000"	"Familial, autosomal recessive"	"14y7m"	"retinal dystrophy, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, AsthmaSleep apnea"	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279133"	"04214"	"00385337"	"00000"	"Familial, autosomal recessive"	"2y11m"	"retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, renal structure anomaly, AsthmaCryptochidism"	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279158"	"04214"	"00385362"	"00000"	"Familial, autosomal recessive"	"6y"	"weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, renal structure anomaly, Heart anomalyTeeth crowding, Dysmorphic"	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279170"	"04214"	"00385374"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279180"	"04214"	"00385384"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279181"	"04214"	"00385385"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279184"	"04214"	"00385388"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279357"	"04214"	"00385562"	"00000"	"Familial, autosomal recessive"	""	"postaxial polydactyly, obesity, hypogonadism, renal anomalies, MR"	""	""	""	""	""	""	""	""	""	"Bardet–Biedl syndrome (BBS)"	""
"0000279367"	"04214"	"00385572"	"00000"	"Familial, autosomal recessive"	""	"postaxial polydactyly, obesity, LD,PP,SD"	""	""	""	""	""	""	""	""	""	"Bardet–Biedl syndrome (BBS)"	""
"0000279368"	"04214"	"00385573"	"00000"	"Familial, autosomal recessive"	""	"postaxial polydactyly, obesity, LD,PP,SD"	""	""	""	""	""	""	""	""	""	"Bardet–Biedl syndrome (BBS)"	""
"0000279369"	"04214"	"00385574"	"00000"	"Familial, autosomal recessive"	""	"postaxial polydactyly, obesity, LD,UTIS"	""	""	""	""	""	""	""	""	""	"Bardet–Biedl syndrome (BBS)"	""
"0000279370"	"04214"	"00385575"	"00000"	"Familial, autosomal recessive"	""	"postaxial polydactyly, obesity, LD,UTIS"	""	""	""	""	""	""	""	""	""	"Bardet–Biedl syndrome (BBS)"	""
"0000279384"	"04214"	"00385589"	"00000"	"Familial, autosomal recessive"	""	"obesity, hypogonadism, renal anomalies, DD,MR"	""	""	""	""	""	""	""	""	""	"Bardet–Biedl syndrome (BBS)"	""
"0000279386"	"04214"	"00385591"	"00000"	"Familial, autosomal recessive"	""	"Retinitis pigmentosa, postaxial polydactyly, renal anomalies"	""	""	""	""	""	""	""	""	""	"Bardet–Biedl syndrome (BBS)"	""
"0000279387"	"04214"	"00385592"	"00000"	"Familial, autosomal recessive"	""	"Retinitis pigmentosa, postaxial polydactyly, renal anomalies"	""	""	""	""	""	""	""	""	""	"Bardet–Biedl syndrome (BBS)"	""
"0000279388"	"04214"	"00385593"	"00000"	"Familial, autosomal recessive"	""	"Retinitis pigmentosa, obesity,"	""	""	""	""	""	""	""	""	""	"Bardet–Biedl syndrome (BBS)"	""
"0000279389"	"04214"	"00385594"	"00000"	"Familial, autosomal recessive"	""	"Retinitis pigmentosa, postaxial polydactyly,"	""	""	""	""	""	""	""	""	""	"Bardet–Biedl syndrome (BBS)"	""
"0000279417"	"04214"	"00385622"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000279418"	"04214"	"00385623"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa (RP)"	""
"0000279419"	"04214"	"00385624"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000279435"	"04214"	"00385640"	"00000"	"Familial, autosomal recessive"	""	"retinitis pigmentosa, polydactyly, obesity, developmental delay, impaired renal function; kidney cysts; enlarged kidney"	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000280402"	"04214"	"00386602"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280509"	"04214"	"00386709"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280646"	"04214"	"00386846"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280661"	"04214"	"00386861"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280909"	"04214"	"00387131"	"00000"	"Familial, autosomal recessive"	"15y"	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome"	""	""
"0000281005"	"04214"	"00387442"	"00000"	"Familial, autosomal recessive"	"64y"	"retinal dystrophy, obesity, cognitive impairment, urogenital anomalies, cardiovascular abnormalities, Hearing loss"	"33y"	""	""	""	""	""	""	""	""	"Alstrom syndrome (ALMS)"	""
"0000281006"	"04214"	"00387443"	"00000"	"Familial, autosomal recessive"	"61y"	"retinal dystrophy, obesity, ?brachydactyly/syndactyly, renal abnormalities, cardiovascular abnormalities,"	"35y"	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000281007"	"04214"	"00387444"	"00000"	"Familial, autosomal recessive"	"41y"	"retinal dystrophy, obesity, polydactyly, brachydactyly/syndactyly, cognitive impairment, urogenital anomalies, renal abnormalities, Asthma"	"18y"	""	""	""	""	""	""	""	""	"Alstrom syndrome (ALMS)"	""
"0000281008"	"04214"	"00387445"	"00000"	"Familial, autosomal recessive"	"38y"	"retinal dystrophy, obesity, ?brachydactyly/syndactyly, cognitive impairment, psychomotor delay, urogenital anomalies,"	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000281009"	"04214"	"00387446"	"00000"	"Familial, autosomal recessive"	"57y"	"retinal dystrophy, obesity, polydactyly,"	"32y"	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000281010"	"04214"	"00387447"	"00000"	"Familial, autosomal recessive"	"73y"	"retinal dystrophy, obesity, brachydactyly/syndactyly,"	"30y"	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000281011"	"04214"	"00387448"	"00000"	"Familial, autosomal recessive"	"73y"	"retinal dystrophy, polydactyly, cognitive impairment,"	"2y"	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000281012"	"04214"	"00387449"	"00000"	"Familial, autosomal recessive"	"93y"	"retinal dystrophy, Hearing loss"	"45y"	""	""	""	""	""	""	""	""	"Alstrom syndrome (ALMS)"	""
"0000281013"	"04214"	"00387450"	"00000"	"Familial, autosomal recessive"	"51y"	"retinal dystrophy, obesity, polydactyly, cognitive impairment,"	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000281014"	"04214"	"00387451"	"00000"	"Familial, autosomal recessive"	"32y"	"retinal dystrophy, obesity, polydactyly, cognitive impairment,"	"6y"	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000281015"	"04214"	"00387452"	"00000"	"Familial, autosomal recessive"	"57y"	"retinal dystrophy, obesity, polydactyly, cardiovascular abnormalities,"	"46y"	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000281016"	"04214"	"00387453"	"00000"	"Familial, autosomal recessive"	"47y"	"retinal dystrophy, polydactyly, cognitive impairment, cardiovascular abnormalities,"	"17y"	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000281017"	"04214"	"00387454"	"00000"	"Familial, autosomal recessive"	"43y"	"retinal dystrophy, polydactyly, cognitive impairment, cardiovascular abnormalities,"	"18y"	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000281018"	"04214"	"00387455"	"00000"	"Familial, autosomal recessive"	"54y"	"retinal dystrophy, obesity, polydactyly,"	"20y"	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000281019"	"04214"	"00387456"	"00000"	"Familial, autosomal recessive"	"50y"	"retinal dystrophy, obesity, polydactyly,"	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000281020"	"04214"	"00387457"	"00000"	"Familial, autosomal recessive"	"19y"	"retinal dystrophy, obesity, polydactyly,"	"8y"	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000281021"	"04214"	"00387458"	"00000"	"Familial, autosomal recessive"	"44y"	"retinal dystrophy, obesity, polydactyly, psychomotor delay, cardiovascular abnormalities, Liver steatosis"	"34y"	""	""	""	""	""	""	""	""	"Alstrom syndrome (ALMS)"	""
"0000281022"	"04214"	"00387459"	"00000"	"Familial, autosomal recessive"	"46y"	"retinal dystrophy, polydactyly, psychomotor delay, urogenital anomalies,"	"46y"	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000281023"	"04214"	"00387460"	"00000"	"Familial, autosomal recessive"	"51y"	"retinal dystrophy, obesity, polydactyly, cognitive impairment, renal abnormalities, cardiovascular abnormalities, type 2 diabetes mellitus"	""	""	""	""	""	""	""	""	""	"Alstrom syndrome (ALMS)"	""
"0000281024"	"04214"	"00387461"	"00000"	"Familial, autosomal recessive"	"59y"	"retinal dystrophy, obesity, polydactyly, cognitive impairment, renal abnormalities, cardiovascular abnormalities,"	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000281025"	"04214"	"00387462"	"00000"	"Familial, autosomal recessive"	"35y"	"retinal dystrophy, obesity, brachydactyly/syndactyly,"	"8y"	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000281026"	"04214"	"00387463"	"00000"	"Familial, autosomal recessive"	"33y"	"retinal dystrophy, obesity, brachydactyly/syndactyly,"	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000281027"	"04214"	"00387464"	"00000"	"Familial, autosomal recessive"	"29y"	"retinal dystrophy, polydactyly, Hearing loss, asthma"	"3y"	""	""	""	""	""	""	""	""	"Alstrom syndrome (ALMS)"	""
"0000281028"	"04214"	"00387465"	"00000"	"Familial, autosomal recessive"	"34y"	"retinal dystrophy, obesity, cognitive impairment,"	"1y"	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000281029"	"04214"	"00387466"	"00000"	"Familial, autosomal recessive"	"34y"	"retinal dystrophy, obesity,"	"14y"	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000281030"	"04214"	"00387467"	"00000"	"Familial, autosomal recessive"	"41y"	"retinal dystrophy, obesity, polydactyly,"	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000281031"	"04214"	"00387468"	"00000"	"Familial, autosomal recessive"	"38y"	"retinal dystrophy, obesity, polydactyly, cognitive impairment, cardiovascular abnormalities, type 2 diabetes mellitus"	""	""	""	""	""	""	""	""	""	"Alstrom syndrome (ALMS)"	""
"0000281032"	"04214"	"00387469"	"00000"	"Familial, autosomal recessive"	"31y"	"retinal dystrophy, obesity, polydactyly, cognitive impairment,"	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000281033"	"04214"	"00387470"	"00000"	"Familial, autosomal recessive"	"38y"	"retinal dystrophy, obesity, polydactyly,"	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000281034"	"04214"	"00387471"	"00000"	"Familial, autosomal recessive"	"21y"	"retinal dystrophy, obesity, polydactyly, cognitive impairment, psychomotor delay, urogenital anomalies, Hearing loss"	"11y"	""	""	""	""	""	""	""	""	"Alstrom syndrome (ALMS)"	""
"0000281035"	"04214"	"00387472"	"00000"	"Familial, autosomal recessive"	"25y"	"retinal dystrophy, obesity, polydactyly, cognitive impairment, psychomotor delay, urogenital anomalies, Hearing loss"	"10y"	""	""	""	""	""	""	""	""	"Alstrom syndrome (ALMS)"	""
"0000281036"	"04214"	"00387473"	"00000"	"Familial, autosomal recessive"	"17y"	"retinal dystrophy, obesity, cognitive impairment,"	"14y"	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000281037"	"04214"	"00387474"	"00000"	"Familial, autosomal recessive"	"3y"	"retinal dystrophy, obesity, polydactyly, cognitive impairment, psychomotor delay, Hearing loss"	"8y"	""	""	""	""	""	""	""	""	"Alstrom syndrome (ALMS)"	""
"0000281117"	"04214"	"00387554"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome"	""
"0000281145"	"04214"	"00387582"	"00000"	"Familial, autosomal recessive"	"27y"	""	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome"	""
"0000281146"	"04214"	"00387583"	"00000"	"Familial, autosomal recessive"	"27y"	""	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome"	""
"0000281622"	"04214"	"00388027"	"00000"	"Familial, autosomal recessive"	""	"Retinitis pigmentosa"	"25y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP)"	""
"0000281623"	"04214"	"00388028"	"00000"	"Familial, autosomal recessive"	""	"Rod and cone dystrophy, (excision of) an extra digit"	"17y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP)"	""
"0000281627"	"04214"	"00388035"	"00000"	"Familial, autosomal dominant"	""	"Retinal dystrophy"	"33y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP)"	""
"0000281628"	"04214"	"00388035"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000281629"	"04214"	"00388036"	"00000"	"Familial, autosomal dominant"	""	"Bilateral retinal detachment, cataracts, leukocoria, possible hearing loss, delayed milestones"	"1y"	""	""	""	""	""	""	""	""	"Familial exudative vitreoretinopathy (FEVR)"	""
"0000281630"	"04214"	"00388036"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000281631"	"04214"	"00388037"	"00000"	"Familial, X-linked"	""	"Tractional retinal detachment, vitreous hemorrhage, retinal dragging, peripheral avascular retinas"	"13y"	""	""	""	""	""	""	""	""	"Familial exudative vitreoretinopathy (FEVR)"	""
"0000281632"	"04214"	"00388037"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000281633"	"04214"	"00388038"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000281634"	"04214"	"00388039"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000281635"	"04214"	"00388040"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000281636"	"04214"	"00388041"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000281738"	"04214"	"00388145"	"00000"	"Unknown"	"23y10m"	"Nystagmus: 5-6Hz pendular N, best corrected visual acuity right eye/left eye: 0.05/0.05, fundus: Pigmentary retinopathy, ERG: Severely reduced, additional features: Severe obesity, Polydactyly, Amenorrhea"	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome"	"Bardet-Biedl syndrome"	""
"0000282067"	"04214"	"00388526"	"00000"	"Familial, autosomal recessive"	"25y"	"rod-cone dystrophy, obesity, polydactyly, mild pyelectasis with polycysts, hepatic fibrosis: mild splenomegaly, BMI: 26.7, Imperforate anus"	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome"	"Bardet-Biedl syndrome"	""
"0000282094"	"04214"	"00388554"	"00000"	"Isolated (sporadic)"	""	"Hidden syndrome"	""	"40y"	""	""	""	""	""	""	"Bardet-Biedl syndrome type 1"	"Retinitis pigmentosa"	""
"0000282273"	"04214"	"00388732"	"00000"	"Familial, autosomal recessive"	"28y"	"age at genetic diagnosis mentioned"	""	"22y"	""	""	""	""	""	""	"Bardet-Biedl syndrome"	""	""
"0000282274"	"04214"	"00388733"	"00000"	"Familial, autosomal recessive"	"34y"	"age at genetic diagnosis mentioned"	""	"28y"	""	""	""	""	""	""	"Bardet-Biedl syndrome"	""	""
"0000282288"	"04214"	"00388747"	"00000"	"Isolated (sporadic)"	"47y"	"age at genetic diagnosis mentioned"	""	"41y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000282289"	"04214"	"00388748"	"00000"	"Familial, autosomal recessive"	"46y"	"age at genetic diagnosis mentioned"	""	"38y"	""	""	""	""	""	""	"Bardet-Biedl syndrome"	""	""
"0000282309"	"04214"	"00388768"	"00000"	"Familial, autosomal recessive"	"36y"	"age at genetic diagnosis mentioned"	""	"30y"	""	""	""	""	""	""	"Bardet-Biedl syndrome"	""	""
"0000282363"	"04214"	"00388822"	"00000"	"Familial, autosomal recessive"	"23y"	"age at genetic diagnosis mentioned"	""	"19y"	""	""	""	""	""	""	"Bardet-Biedl syndrome"	""	""
"0000282377"	"04214"	"00388836"	"00000"	"Familial, autosomal recessive"	"21y"	"age at genetic diagnosis mentioned"	""	"17y"	""	""	""	""	""	""	"Bardet-Biedl syndrome"	""	""
"0000282408"	"04214"	"00388867"	"00000"	"Familial, autosomal recessive"	"19y"	"age at genetic diagnosis mentioned"	""	"15y"	""	""	""	""	""	""	"Bardet-Biedl syndrome"	""	""
"0000282420"	"04214"	"00388879"	"00000"	"Familial, autosomal recessive"	"36y"	"age at genetic diagnosis mentioned"	""	"34y"	""	""	""	""	""	""	"Bardet-Biedl syndrome"	""	""
"0000282475"	"04214"	"00388934"	"00000"	"Isolated (sporadic)"	"75y"	"age at genetic diagnosis mentioned"	""	"69y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283068"	"04214"	"00389527"	"00000"	"Familial, autosomal recessive"	"59y"	"age at genetic diagnosis mentioned"	""	"56y"	""	""	""	""	""	""	"autosomal recessive retinitis pigmentosa"	""	""
"0000283136"	"04214"	"00389595"	"00000"	"Familial, autosomal recessive"	"33y"	"age at genetic diagnosis mentioned"	""	"32y"	""	""	""	""	""	""	"autosomal recessive retinitis pigmentosa"	""	""
"0000283276"	"04214"	"00389735"	"00000"	"Isolated (sporadic)"	"55y"	"age at genetic diagnosis mentioned"	""	"46y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283469"	"04214"	"00389928"	"00000"	"Isolated (sporadic)"	"25y"	"age at genetic diagnosis mentioned"	""	"23y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283494"	"04214"	"00389953"	"00000"	"Isolated (sporadic)"	"16y"	"age at genetic diagnosis mentioned"	""	"14y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283499"	"04214"	"00389958"	"00000"	"Isolated (sporadic)"	"50y"	"age at genetic diagnosis mentioned"	""	"48y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283508"	"04214"	"00389967"	"00000"	"Isolated (sporadic)"	"28y"	"age at genetic diagnosis mentioned"	""	"27y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283580"	"04214"	"00390040"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"early-onset primary angle closure glaucoma"	"early-onset primary angle closure glaucoma"	""
"0000283707"	"04214"	"00390169"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000283708"	"04214"	"00390170"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000283709"	"04214"	"00390171"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000283710"	"04214"	"00390172"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000284909"	"04214"	"00391573"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"BBS/cone-rod dystrophy"	""
"0000287172"	"04214"	"00393966"	"00000"	"Unknown"	"6y"	"polydactyly, cystic kidney disease, developmental delay, and sagittal craniosynostosis"	""	""	""	""	""	""	""	""	""	"Ciliopathies"	""
"0000287563"	"04214"	"00394359"	"00000"	"Familial, autosomal recessive"	""	"RP, mental deficiency, and obesity, electroretinogram flat except during 30 Hz flicker"	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome"	""	""
"0000288784"	"00198"	"00395586"	"00000"	"Familial, autosomal recessive"	""	"early onset rod-cone dystrophy, myopia, delayed speech and language development, generalized myoclonic seizures, global developmental delay, intellectual disability, moderate, gait imbalance, dysmetria, pectus carinatum, kyphosis, absent eyebrow and eyelashes, narrow palate, alopecia, atopic dermatitis, dermal atrophy, excessive salivation, poor wound healing two previous variants already published in BBS1 and BBS5"	""	""	""	""	""	""	""	""	"Mixed"	""	""
"0000288801"	"04214"	"00395603"	"00000"	"Familial, autosomal recessive"	""	"photophobia, rod-cone dystrophy, fructose intolerance, postaxial hand and foot polydactyly"	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome"	"Bardet-Biedl-like syndrome"	""
"0000288802"	"04214"	"00395604"	"00000"	"Familial, autosomal recessive"	""	"abnormality of color vision, rod-cone dystrophy, obesity, attention deficit hyperactivity disorder, delayed speech and language development, global developmental delay, nephrocalcinosis"	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome"	"Bardet-Biedl syndrome"	""
"0000288808"	"04214"	"00395610"	"00000"	"Familial, autosomal recessive"	""	"cataract, cone/cone-rod dystrophy, obesity, postaxial polydactyly"	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome"	"Bardet-Biedl-like syndrome"	""
"0000288816"	"04214"	"00395618"	"00000"	"Familial, autosomal recessive"	""	"cone/cone-rod dystrophy, dyschromatopsia, photophobia, photopsia, obesity, precocious puberty in females, intellectual disability, borderline, receptive language delay, specific learning disability"	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome"	"Bardet-Biedl-like syndrome"	""
"0000289592"	"04214"	"00396430"	"00006"	"Familial, X-linked"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000289631"	"04214"	"00396470"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome"	""	""
"0000289700"	"04214"	"00396539"	"00000"	"Familial, autosomal recessive"	""	"Lung hypoplasia, polydactyly, postaxial, lower limbs, upper limbs, kidney abnormality, enlarged kidneys, renal cysts"	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000289702"	"04214"	"00396541"	"00000"	"Familial, autosomal recessive"	""	"polydactyly, postaxial, lower limbs, upper limbs, urinary system abnormality"	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000289704"	"04214"	"00396543"	"00000"	"Familial, autosomal recessive"	""	"polydactyly, postaxial, lower limbs, upper limbs, kidney abnormality, enlarged kidneys, hyperechogenic kidneys"	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000289706"	"04214"	"00396545"	"00000"	"Familial, autosomal recessive"	""	"Nail hypoplasia, polydactyly, postaxial, lower limbs, upper limbs, kidney abnormality, enlarged kidneys, renal cysts"	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000289708"	"04214"	"00396547"	"00000"	"Familial, autosomal recessive"	""	"polydactyly, postaxial, lower limbs, upper limbs, kidney abnormality, enlarged kidneys, hyperechogenic kidneys, renal cysts, micropenis, abnormal genital system morphology"	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000289710"	"04214"	"00396549"	"00000"	"Familial, autosomal recessive"	""	"polydactyly, postaxial, lower limbs, kidney abnormality, enlarged kidneys, hyperechogenic kidneys, urinary system abnormality"	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000289712"	"04214"	"00396551"	"00000"	"Familial, autosomal recessive"	""	"polydactyly, postaxial, lower limbs, upper limbs, kidney abnormality, enlarged kidneys, hyperechogenic kidneys, renal cysts, hepatic anomaly"	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000289714"	"04214"	"00396553"	"00000"	"Familial, autosomal recessive"	""	"Clenched hands, dysmorphy, edema, kidney abnormality, renal cysts, hepatic anomaly"	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000289716"	"04214"	"00396555"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000289718"	"04214"	"00396557"	"00000"	"Familial, autosomal recessive"	""	"polydactyly, postaxial, lower limbs, upper limbs, kidney abnormality, enlarged kidneys, hyperechogenic kidneys, renal cysts, hepatic anomaly"	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000289720"	"04214"	"00396559"	"00000"	"Familial, autosomal recessive"	""	"polydactyly, postaxial, lower limbs, upper limbs, syndactyly, kidney abnormality, renal cysts, hepatic anomaly"	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000289722"	"04214"	"00396561"	"00000"	"Familial, autosomal recessive"	""	"Overgrowth, polydactyly, postaxial, lower limbs, upper limbs, kidney abnormality, enlarged kidneys, hyperechogenic kidneys, renal cysts"	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000289724"	"04214"	"00396563"	"00000"	"Familial, autosomal recessive"	""	"Hygroma colli, righ club foot, polydactyly, postaxial, lower limbs, kidney abnormality, enlarged kidneys, oligoamnios, hyperechogenic kidneys, renal cysts, cns anomaly"	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""
"0000290931"	"05121"	"00397804"	"00006"	"Familial, autosomal recessive"	""	"moderate-progressive Ullrich congenital muscular dystrophy"	""	""	""	""	""	""	""	""	"UCMD1"	"Ullrich congenital muscular dystrophy"	""
"0000300477"	"04214"	"00408351"	"00000"	"Familial, autosomal recessive"	"17y"	"best corrected visual acuity right, left eye: 20/1000, hand movement; refraction right/left eye: plano / plano"	""	""	""	""	""	""	""	""	"Retinal degeneration"	""	""
"0000300478"	"04214"	"00408352"	"00000"	"Familial, autosomal recessive"	"21y"	"best corrected visual acuity right, left eye: 20/150, 20/150; refraction right/left eye: +0.75 / +0.75"	""	""	""	""	""	""	""	""	"Retinal degeneration"	""	""
"0000300479"	"04214"	"00408353"	"00000"	"Familial, autosomal recessive"	"22y"	"best corrected visual acuity right, left eye: 20/32, 20/32; refraction right/left eye: -4.00 / -4.75"	""	""	""	""	""	""	""	""	"Retinal degeneration"	""	""
"0000300480"	"04214"	"00408354"	"00000"	"Familial, autosomal recessive"	"24y"	"best corrected visual acuity right, left eye: 20/63, 20/50; refraction right/left eye: -3.25 / -3.50"	""	""	""	""	""	""	""	""	"Retinal degeneration"	""	""
"0000300481"	"04214"	"00408355"	"00000"	"Familial, autosomal recessive"	"27y"	"best corrected visual acuity right, left eye: 10/200, 12/200; refraction right/left eye: -3.50 / -3.50"	""	""	""	""	""	""	""	""	"Retinal degeneration"	""	""
"0000300482"	"04214"	"00408356"	"00000"	"Familial, autosomal recessive"	"29y"	"best corrected visual acuity right, left eye: 20/80, 20/100; refraction right/left eye: -4.75 / -3.75"	""	""	""	""	""	""	""	""	"Retinal degeneration"	""	""
"0000300483"	"04214"	"00408357"	"00000"	"Familial, autosomal recessive"	"24y"	"best corrected visual acuity right, left eye: 20/20, 20/20; refraction right/left eye: -0.25 / -0.25"	""	""	""	""	""	""	""	""	"Retinal degeneration"	""	""
"0000300484"	"04214"	"00408358"	"00000"	"Familial, autosomal recessive"	"31y"	"best corrected visual acuity right, left eye: 20/32, 20/200; refraction right/left eye: -1.50 / -1.50"	""	""	""	""	""	""	""	""	"Retinal degeneration"	""	""
"0000300485"	"04214"	"00408359"	"00000"	"Familial, autosomal recessive"	"41y"	"best corrected visual acuity right, left eye: 20/50, 20/25; refraction right/left eye: -0.25 / plano"	""	""	""	""	""	""	""	""	"Retinal degeneration"	""	""
"0000300486"	"04214"	"00408360"	"00000"	"Familial, autosomal recessive"	"62y"	"best corrected visual acuity right, left eye: 20/40, 20/40; refraction right/left eye: +0.75 / +0.50"	""	""	""	""	""	""	""	""	"Retinal degeneration"	""	""
"0000300487"	"04214"	"00408361"	"00000"	"Familial, autosomal recessive"	"81y"	"best corrected visual acuity right, left eye: light perception, light perception; refraction right/left eye: +13.75 / +14.00"	""	""	""	""	""	""	""	""	"Retinal degeneration"	""	""
"0000304475"	"04214"	"00412473"	"00000"	"Familial, autosomal recessive"	""	"normal ES-like morphology; positive for cell surface markers; Oct4, Nanog, SSEA3, Tra-1-60, Tra-1-81; positive for; OCT4, NANOG, SOX2, TDGF1, DNMT3B, GARB3 and GDF3"	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome"	""	""
"0000304476"	"04214"	"00412474"	"00000"	"Familial, autosomal recessive"	"9y"	"best corrected visual acuity (refraction) right/left eye: 0.6 (logMAR BCVA, 0.22 spherical-1.75 diopters [D] cylinder - 1.75 D axis 170deg) / 0.4 (logMAR BCVA, 0.40 spherical - 1.75 D cylinder - 1.25 D axis 15deg); no nystagmus or abnormality in anterior segments and media; funduscopy: nearly normal fundus appearance except for chorioretinal atrophic changes inferior to the optic disks and pseudopapillary edema in both eyes; fundus autofluorescence: extended macular hypo-autofluorescence with surrounding hyperautofluorescent lesions in both eyes; no apparent retinal degeneration in the periphery, but macular abnormalities including hyperautofluorescence at the fovea, mild attenuation of retinal arteriolar vessels; B-scan optical coherence tomography through the fovea: thinning of the outer retinal layers with complete disappearance of the ellipsoid zone and foveal thickness thinning in both eyes; through the optic disk -  elevation of the retinal structure on hyper-reflective tissue at the nasal optic disk area in both eyes; full field electroretinogram: non-recordable responses in rod (dark adapted 0.01) electroretinogram, a non-recordable response of the right eye and an extremely decreased and delayed a-wave of the left eye in dark adapted 3.0 electroretinogram, non-recordable responses in light-adapted cone electroretinogram, and extremely decreased responses in light adapted 30 Hz flicker electroretinogram, compatible with a severe form of rod-cone dystrophy; visual field (Goldmann perimetry): preserved peripheral visual fields with V-4e isopters but restricted I-4e visual fields; best corrected visual acuity right/left eye 11y: 0.4 (logMAR BCVA, 0.40)/0.3 (logMAR BCVA, 0.52), no apparent progression in funduscopy, optical coherence tomography, and Goldmann perimetry findings; systemic findings: 10y10m hospital admission to further investigate the possibility of BBS; medical history: postaxial polydactyly/hexadactyly in the right hand at birth (surgically removed); height, weight, body mass index (BMI), and percentile BMI: 146.4 cm (+ 0.56 SD), 56.8 kg (+ 2.59 SD), 26.5 kg/m2, 97th percentile, respectively; high-arched palate and malalignment; bone age: 11.7 years by the Tanner-Whitehouse method standardized for Japanese children; development of her breasts and pubic hair: Tanner stage II and I, respectively; laboratory data including complete blood count and biochemistry: normal; overt insulin resistance, but no diabetes mellitus; gonadotropin-releasing hormone test: pubertal responses of luteinizing hormone and follicle-stimulating hormone ; ultrasonography: neither heart disease nor renal anomaly presen; intelligence test using WISCIV: developmental delay based on Full-Scale Intelligence Quotient (FSIQ), Verbal Comprehension Index (VCI), Perceptual Reasoning Index (PRI), Working Memory Index (WMI), and Processing Speed Index (PSI) scores of 81, 90, 74, 103, and 76, respectively (normal range of each index: 85-115).;learning disabilities based on DSM-5 (Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition) criteria"	""	""	"poor visual acuity"	""	""	""	""	""	"Bardet-Biedl syndrome"	""	""
"0000304477"	"04214"	"00412475"	"00000"	"Familial, autosomal recessive"	""	"sensorineural features: retinal dystrophy; abnormalities of the hands and feet: postaxial polydactyly: feet; mild intellectual disability; learning difficulty; slow ideation"	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome"	""	""
"0000304478"	"04214"	"00412476"	"00000"	"Familial, autosomal recessive"	""	"sensorineural features: retinal dystrophy, nystagmus; abnormalities of the hands and feet: postaxial polydactyly: hands; brachydactyly; obesity: BMI (47.3); mild intellectual disability; learning difficulty; slow ideation; motor development delay; micropenis; cryptorchidism"	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome"	""	""
"0000304479"	"04214"	"00412477"	"00000"	"Familial, autosomal recessive"	""	"sensorineural features: retinal dystrophy, nystagmus; abnormalities of the hands and feet: postaxial polydactyly: feet; brachydactyly; obesity: BMI (31.1); mild intellectual disability; learning difficulty; motor development delay; micropenis; other clinical features: facial dysmorphism (little mouth)"	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome"	""	""
"0000304480"	"04214"	"00412478"	"00000"	"Familial, autosomal recessive"	""	"sensorineural features: retinal dystrophy, nystagmus; abnormalities of the hands and feet: postaxial polydactyly: feet; brachydactyly; obesity: BMI (43.3); intellectual disability; learning difficulty; motor development delay; micropenis"	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome"	""	""
"0000304481"	"04214"	"00412479"	"00000"	"Familial, autosomal recessive"	""	"sensorineural features: retinal dystrophy; abnormalities of the hands and feet: none; obesity"	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome"	""	""
"0000304482"	"04214"	"00412480"	"00000"	"Familial, autosomal recessive"	""	"sensorineural features: retinal dystrophy; abnormalities of the hands and feet: none; obesity; other clinical features: cervical/rectal cancer"	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome"	""	""
"0000304483"	"04214"	"00412481"	"00000"	"Familial, autosomal recessive"	""	"sensorineural features: retinal dystrophy; abnormalities of the hands and feet: postaxial polydactyly: hands; clinodactyly; obesity: BMI (29.3); slow ideation; urogenital anomalies; other clinical features: hepatic steatosis, lumbar stenosis, iron deficiency"	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome"	""	""
"0000304484"	"04214"	"00412482"	"00000"	"Familial, autosomal recessive"	""	"sensorineural features: retinal dystrophy, nystagmus; abnormalities of the hands and feet: postaxial polydactyly: feet; obesity; learning difficulty; other clinical features: T2D, heart murmur"	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome"	""	""
"0000304485"	"04214"	"00412483"	"00000"	"Familial, autosomal recessive"	""	"sensorineural features: retinal dystrophy; abnormalities of the hands and feet: postaxial polydactyly: hands; brachydactyly; obesity: BMI (38.5); speech delay; slow ideation; motor development delay; other clinical features: asthma, hypothyroidism, scoliosis"	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome"	""	""
"0000304486"	"04214"	"00412484"	"00000"	"Familial, autosomal recessive"	""	"sensorineural features: retinal dystrophy; abnormalities of the hands and feet: postaxial polydactyly; obesity; intellectual disability; urogenital anomalies"	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome"	""	""
"0000304487"	"04214"	"00412485"	"00000"	"Familial, autosomal recessive"	""	"sensorineural features: retinal dystrophy; abnormalities of the hands and feet: none; obesity; intellectual disability; urogenital anomalies; other clinical features: macrocephaly"	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome"	""	""
"0000304488"	"04214"	"00412486"	"00000"	"Familial, autosomal recessive"	""	"sensorineural features: retinal dystrophy; abnormalities of the hands and feet: postaxial polydactyly; obesity; no intellectual disability; no learning difficulty; no speech delay; no slow ideation; no motor development delay; urogenital anomalies"	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome"	""	""
"0000304489"	"04214"	"00412487"	"00000"	"Familial, autosomal recessive"	""	"sensorineural features: retinal dystrophy; abnormalities of the hands and feet: postaxial polydactyly: hands, feet; obesity; moderate intellectual disability; learning difficulty; severe speech delay; slow ideation; motor development delay; micropenis; no cryptorchidism; ptosis right kidney; other clinical features: right pes cavus"	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome"	""	""
"0000306177"	"00198"	"00414342"	"00000"	"Familial, autosomal recessive"	"1y"	""	""	""	""	""	""	""	""	""	"Bardet-Biedl Syndrome 1"	""	""
"0000309000"	"04212"	"00417520"	"00000"	"Familial, autosomal recessive"	""	"obesity; intellectual disability; renal symptoms: none; retinitis pigmentosa; polydactyly; deafness; no anosmia; no atopy; BBS facies; congenital heart disease: unknown; fatty liver: none; hypogenitalism"	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""	""
"0000309001"	"04212"	"00417521"	"00000"	"Familial, autosomal recessive"	""	"obesity; intellectual disability; renal symptoms: unknown; retinitis pigmentosa; polydactyly; no deafness; no anosmia; no atopy; BBS facies; congenital heart disease: unknown; fatty liver: none; no hypogenitalism"	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""	""
"0000309848"	"04212"	"00418497"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""	""
"0000309849"	"04212"	"00418498"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Bardet-Biedl syndrome (BBS)"	""	""
"0000310011"	"05611"	"00418712"	"00006"	"Unknown"	""	"speech delay; motor delay; intellectual disability; no autism spectrum disorder; no behavioral problems; no facial dysmorphism; enuresis; microcephaly, scoliosis, reflux"	""	""	""	""	""	""	""	""	""	"neurodevelopmental delay"	""
"0000318083"	"04214"	"00426945"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Bardet-Biedl Syndrome"	"Bardet-Biedl Syndrome"	""
"0000320492"	"00112"	"00429620"	"04436"	"Paternal, Y-linked"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320508"	"04214"	"00429636"	"04436"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320781"	"00112"	"00429909"	"04436"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320897"	"00112"	"00430025"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000336176"	"00198"	"00446977"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, autosomal recessive"	""
"0000336324"	"00198"	"00447125"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000336699"	"00198"	"00447500"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, autosomal recessive"	""
"0000336803"	"00198"	"00447604"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""
"0000336821"	"00198"	"00447622"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""
"0000350942"	"05207"	"00465390"	"00006"	"Unknown"	"4y"	"see paper; ..., skin color white; hair color yellow white; iris color blue; nystagmus"	""	""	""	""	""	""	""	""	""	"oculocutaneous albinism"	""
"0000350943"	"05207"	"00465391"	"00006"	"Unknown"	"12y"	"see paper; ..., skin color white; hair color yellow; iris color light brown; nystagmus"	""	""	""	""	""	""	""	""	""	"oculocutaneous albinism"	""
"0000353848"	"00198"	"00468695"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"multiple congenital anomalies"	""
"0000353849"	"00198"	"00468696"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"multiple congenital anomalies"	""
"0000354728"	"00198"	"00469576"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"multiple congenital anomalies"	""


## Screenings ## Do not remove or alter this header ##
## Count = 473
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000000029"	"00000029"	"1"	"00004"	""	"2012-05-11 13:18:42"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000070"	"00000070"	"1"	"00004"	""	"2012-05-11 13:18:57"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000001590"	"00001787"	"1"	"00102"	"00102"	"2013-08-08 18:28:06"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000001591"	"00001788"	"1"	"00102"	"00102"	"2013-08-08 18:30:39"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000081214"	"00081102"	"1"	"01763"	"01763"	"2016-09-13 17:05:57"	""	""	"SEQ-NG"	"DNA"	""	""
"0000081531"	"00081418"	"1"	"01706"	"00006"	"2016-10-04 07:17:53"	""	""	"SEQ;arraySNP;PCR"	"DNA"	""	""
"0000081532"	"00081419"	"1"	"01706"	"00006"	"2016-10-04 07:17:53"	""	""	"SEQ;arraySNP;PCR"	"DNA"	""	""
"0000088290"	"00088150"	"1"	"00008"	"00008"	"2016-11-18 14:30:20"	""	""	"SEQ"	"DNA"	""	""
"0000145016"	"00144157"	"1"	"01780"	"00006"	"2017-11-28 22:45:32"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000156247"	"00155382"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000156248"	"00155383"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000156249"	"00155384"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000208855"	"00207813"	"1"	"00006"	"00006"	"2018-12-01 16:03:26"	"00006"	"2018-12-01 16:21:25"	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	"BBS gene panel, WGS"
"0000234317"	"00233218"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234318"	"00233219"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234319"	"00233220"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234320"	"00233221"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234321"	"00233222"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234322"	"00233223"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234323"	"00233224"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234324"	"00233225"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234325"	"00233226"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234326"	"00233227"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234327"	"00233228"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234328"	"00233229"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234329"	"00233230"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234330"	"00233231"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234331"	"00233232"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234332"	"00233233"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000270577"	"00269434"	"1"	"03508"	"03508"	"2019-11-27 12:34:05"	""	""	"SEQ-NG"	"DNA"	"Blood"	"Targeted gene panel"
"0000291649"	"00290481"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000291650"	"00290482"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000309620"	"00308475"	"1"	"00004"	"00006"	"2020-08-27 13:01:07"	""	""	"SEQ"	"DNA"	""	""
"0000309782"	"00308637"	"1"	"00004"	"00006"	"2020-08-27 13:01:07"	""	""	"SEQ"	"DNA"	""	""
"0000310098"	"00308953"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310099"	"00308954"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310100"	"00308955"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310101"	"00308956"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000328607"	"00327395"	"1"	"03980"	"03980"	"2021-01-20 20:14:15"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000328610"	"00327398"	"1"	"03980"	"03980"	"2021-01-20 21:18:21"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000329145"	"00327930"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000329156"	"00327941"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000329178"	"00327963"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000329287"	"00328072"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000329298"	"00328083"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000329404"	"00328189"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000329432"	"00328217"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000329698"	"00328483"	"1"	"00000"	"00006"	"2021-01-28 09:35:56"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000329720"	"00328505"	"1"	"00000"	"00006"	"2021-01-28 09:35:56"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000332953"	"00331734"	"1"	"00000"	"00006"	"2021-02-13 09:57:26"	""	""	"arraySNP;SEQ;SEQ-NG"	"DNA"	""	""
"0000333413"	"00332193"	"1"	"00000"	"00006"	"2021-02-15 18:54:26"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000333420"	"00332200"	"1"	"00000"	"00006"	"2021-02-15 18:54:26"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000333430"	"00332210"	"1"	"00000"	"00006"	"2021-02-15 18:54:26"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000334621"	"00333396"	"1"	"00000"	"00006"	"2021-02-25 11:52:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"184-gene panel"
"0000335033"	"00333807"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335034"	"00333808"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335035"	"00333809"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335117"	"00333891"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335118"	"00333892"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335146"	"00333920"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335295"	"00334069"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335296"	"00334070"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335297"	"00334071"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335298"	"00334072"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335299"	"00334073"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335300"	"00334074"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335301"	"00334075"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335302"	"00334076"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335303"	"00334077"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335304"	"00334078"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335305"	"00334079"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335306"	"00334080"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335307"	"00334081"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000336312"	"00335083"	"1"	"00000"	"00006"	"2021-03-04 11:06:46"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000336313"	"00335084"	"1"	"00000"	"00006"	"2021-03-04 11:06:46"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000336314"	"00335085"	"1"	"00000"	"00006"	"2021-03-04 11:06:46"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000359949"	"00358719"	"1"	"00000"	"00006"	"2021-03-11 13:59:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000360040"	"00358810"	"1"	"00000"	"00006"	"2021-03-12 18:57:14"	""	""	"arrayCGH;PCRlr;SEQ-NG"	"DNA"	""	""
"0000360041"	"00358811"	"1"	"00000"	"00006"	"2021-03-12 18:57:14"	""	""	"arrayCGH;PCRlr;SEQ-NG"	"DNA"	""	""
"0000360042"	"00358812"	"1"	"00000"	"00006"	"2021-03-12 18:57:14"	""	""	"arrayCGH;PCRlr;SEQ-NG"	"DNA"	""	""
"0000360043"	"00358813"	"1"	"00000"	"00006"	"2021-03-12 18:57:14"	""	""	"arrayCGH;PCRlr;SEQ-NG"	"DNA"	""	""
"0000360093"	"00358861"	"1"	"00000"	"00006"	"2021-03-16 16:48:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000360103"	"00358871"	"1"	"00000"	"00006"	"2021-03-16 16:48:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000360184"	"00358947"	"1"	"00000"	"00006"	"2021-03-18 12:15:00"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000360205"	"00358968"	"1"	"00000"	"00006"	"2021-03-18 12:15:00"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000360262"	"00359024"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000360263"	"00359025"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000360264"	"00359026"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000360611"	"00359369"	"1"	"00000"	"00006"	"2021-03-19 18:50:51"	""	""	"SEQ-NG"	"DNA"	""	"64-gene panel"
"0000360614"	"00359372"	"1"	"00000"	"00006"	"2021-03-19 18:50:51"	""	""	"SEQ-NG"	"DNA"	""	"64-gene panel"
"0000363287"	"00362059"	"1"	"04043"	"04043"	"2021-04-15 11:46:14"	"04043"	"2021-04-15 15:43:06"	"SEQ-NG"	"DNA"	""	""
"0000363289"	"00362060"	"1"	"04043"	"04043"	"2021-04-15 12:01:12"	"04043"	"2021-04-15 15:44:09"	"SEQ-NG"	"DNA"	""	""
"0000363290"	"00362061"	"1"	"04043"	"04043"	"2021-04-15 12:19:42"	"04043"	"2021-04-15 15:44:30"	"SEQ-NG"	"DNA"	""	""
"0000363291"	"00362062"	"1"	"04043"	"04043"	"2021-04-15 13:01:51"	"04043"	"2021-04-15 15:44:51"	"SEQ-NG"	"DNA"	""	""
"0000364654"	"00363426"	"1"	"00000"	"00006"	"2021-04-27 10:42:53"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000364655"	"00363427"	"1"	"00000"	"00006"	"2021-04-27 10:42:53"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000364657"	"00363429"	"1"	"00000"	"00006"	"2021-04-27 10:42:53"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000374602"	"00373367"	"1"	"00000"	"00006"	"2021-05-14 10:24:46"	""	""	"PE;SEQ"	"DNA"	""	"APEX"
"0000375054"	"00373822"	"1"	"00000"	"00006"	"2021-05-21 12:20:36"	""	""	"SEQ-NG"	"DNA"	""	""
"0000375056"	"00373824"	"1"	"00006"	"00006"	"2021-05-21 12:29:13"	""	""	"SEQ"	"DNA"	""	""
"0000375082"	"00373850"	"1"	"00000"	"00006"	"2021-05-21 13:56:05"	""	""	"SEQ-NG"	"DNA"	""	"86-gene panel"
"0000375112"	"00373880"	"1"	"00000"	"00006"	"2021-05-21 15:01:30"	""	""	"SEQ-NG"	"DNA"	""	"238-gene panel"
"0000375168"	"00373936"	"1"	"00000"	"00006"	"2021-05-21 15:01:30"	""	""	"SEQ-NG"	"DNA"	""	"238-gene panel"
"0000376176"	"00374982"	"1"	"00000"	"00006"	"2021-05-27 16:02:07"	""	""	"SEQ"	"DNA"	""	""
"0000378004"	"00376798"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000380547"	"00379347"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000380548"	"00379348"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000380549"	"00379349"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000380550"	"00379350"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000380551"	"00379351"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000380552"	"00379352"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000380553"	"00379353"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"SEQ"	"DNA"	"blood"	""
"0000380760"	"00379561"	"1"	"00000"	"00008"	"2021-08-06 03:44:17"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000380771"	"00379572"	"1"	"00000"	"00008"	"2021-08-06 03:44:17"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000380866"	"00379666"	"1"	"03508"	"03508"	"2021-08-06 08:37:03"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000381397"	"00380195"	"1"	"00000"	"03840"	"2021-08-11 10:47:34"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000381576"	"00380362"	"1"	"00000"	"00008"	"2021-08-13 14:56:11"	""	""	"SEQ"	"DNA"	"blood"	""
"0000381577"	"00380363"	"1"	"00000"	"00008"	"2021-08-13 14:56:11"	""	""	"SEQ"	"DNA"	"blood"	""
"0000382445"	"00381230"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000382917"	"00381701"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"PCR;SEQ-NG"	"DNA"	"blood or a saliva sample"	""
"0000382918"	"00381702"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"PCR;SEQ-NG"	"DNA"	"blood or a saliva sample"	""
"0000383426"	"00382212"	"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"
"0000383427"	"00382213"	"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"
"0000383428"	"00382214"	"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"
"0000383695"	"00382481"	"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"
"0000383696"	"00382482"	"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"
"0000383697"	"00382483"	"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"
"0000383698"	"00382484"	"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"
"0000383699"	"00382485"	"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"
"0000383814"	"00382600"	"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"
"0000384282"	"00383058"	"1"	"00000"	"00008"	"2021-09-23 02:25:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384298"	"00383074"	"1"	"00000"	"00008"	"2021-09-23 02:25:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384328"	"00383104"	"1"	"00000"	"00008"	"2021-09-23 02:25:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384329"	"00383105"	"1"	"00000"	"00008"	"2021-09-23 02:25:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384330"	"00383106"	"1"	"00000"	"00008"	"2021-09-23 02:25:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384331"	"00383107"	"1"	"00000"	"00008"	"2021-09-23 02:25:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384332"	"00383108"	"1"	"00000"	"00008"	"2021-09-23 02:25:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384333"	"00383109"	"1"	"00000"	"00008"	"2021-09-23 02:25:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384362"	"00383138"	"1"	"00000"	"00008"	"2021-09-23 02:25:49"	""	""	"arraySNP;PCR"	"DNA;RNA"	"blood"	""
"0000384367"	"00383143"	"1"	"00000"	"00008"	"2021-09-23 02:25:49"	""	""	"arraySNP;PCR"	"DNA;RNA"	"blood"	""
"0000384411"	"00383187"	"1"	"00000"	"00008"	"2021-09-28 01:33:29"	""	""	"SEQ;PCR"	"DNA"	""	""
"0000384414"	"00383190"	"1"	"00000"	"00008"	"2021-09-28 01:33:29"	""	""	"SEQ;PCR"	"DNA"	""	""
"0000384415"	"00383191"	"1"	"00000"	"00008"	"2021-09-28 01:33:29"	""	""	"SEQ;PCR"	"DNA"	""	""
"0000384416"	"00383192"	"1"	"00000"	"00008"	"2021-09-28 01:33:29"	""	""	"SEQ;PCR"	"DNA"	""	""
"0000384428"	"00383204"	"1"	"00000"	"00008"	"2021-09-28 01:33:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384429"	"00383205"	"1"	"00000"	"00008"	"2021-09-28 01:33:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384432"	"00383208"	"1"	"00000"	"00008"	"2021-09-28 01:33:29"	""	""	"SEQ"	"DNA"	"blood"	"Direct digestion"
"0000384433"	"00383209"	"1"	"00000"	"00008"	"2021-09-28 01:33:29"	""	""	"microsat;SEQ"	"DNA"	"blood"	""
"0000384434"	"00383210"	"1"	"00000"	"00008"	"2021-09-28 01:33:29"	""	""	"?"	"DNA"	"blood"	"ASPER microarray"
"0000384435"	"00383211"	"1"	"00000"	"00008"	"2021-09-28 01:33:29"	""	""	"?"	"DNA"	"blood"	"ASPER microarray"
"0000384436"	"00383212"	"1"	"00000"	"00008"	"2021-09-28 01:33:29"	""	""	"SEQ"	"DNA"	"blood"	"Direct digestion"
"0000384437"	"00383213"	"1"	"00000"	"00008"	"2021-09-28 01:33:29"	""	""	"?"	"DNA"	"blood"	"ASPER microarray"
"0000384438"	"00383214"	"1"	"00000"	"00008"	"2021-09-28 01:33:29"	""	""	"SEQ"	"DNA"	"blood"	"Direct digestion"
"0000384439"	"00383215"	"1"	"00000"	"00008"	"2021-09-28 01:33:29"	""	""	"SEQ"	"DNA"	"blood"	"Direct digestion"
"0000384440"	"00383216"	"1"	"00000"	"00008"	"2021-09-28 01:33:29"	""	""	"SEQ"	"DNA"	"blood"	"Direct digestion"
"0000384441"	"00383217"	"1"	"00000"	"00008"	"2021-09-28 01:33:29"	""	""	"SEQ"	"DNA"	"blood"	"Direct digestion"
"0000384442"	"00383218"	"1"	"00000"	"00008"	"2021-09-28 01:33:29"	""	""	"microsat;SEQ"	"DNA"	"blood"	""
"0000384443"	"00383219"	"1"	"00000"	"00008"	"2021-09-28 01:33:29"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	"Direct digestion"
"0000384444"	"00383220"	"1"	"00000"	"00008"	"2021-09-28 01:33:29"	""	""	"SEQ"	"DNA"	"blood"	"Direct digestion"
"0000384445"	"00383221"	"1"	"00000"	"00008"	"2021-09-28 01:33:29"	""	""	"microsat;SEQ"	"DNA"	"blood"	""
"0000384517"	"00383293"	"1"	"00000"	"00008"	"2021-09-29 07:02:49"	""	""	"DHPLC;arraySNP;RT-PCR"	"DNA;RNA"	"blood"	""
"0000384527"	"00383303"	"1"	"00000"	"00008"	"2021-09-29 07:02:49"	""	""	"DHPLC;arraySNP;RT-PCR"	"DNA;RNA"	"blood"	""
"0000384529"	"00383305"	"1"	"00000"	"00008"	"2021-09-29 07:02:49"	""	""	"DHPLC;arraySNP;RT-PCR"	"DNA;RNA"	"blood"	""
"0000384530"	"00383306"	"1"	"00000"	"00008"	"2021-09-29 07:02:49"	""	""	"DHPLC;arraySNP;RT-PCR"	"DNA;RNA"	"blood"	""
"0000384553"	"00383329"	"1"	"00000"	"00008"	"2021-09-29 07:02:49"	""	""	"PCR"	"DNA"	"blood"	""
"0000384554"	"00383330"	"1"	"00000"	"00008"	"2021-09-29 07:02:49"	""	""	"PCR"	"DNA"	"blood"	""
"0000384555"	"00383331"	"1"	"00000"	"00008"	"2021-09-29 07:02:49"	""	""	"PCR"	"DNA"	"blood"	""
"0000384556"	"00383332"	"1"	"00000"	"00008"	"2021-09-29 07:02:49"	""	""	"PCR"	"DNA"	"blood"	""
"0000384557"	"00383333"	"1"	"00000"	"00008"	"2021-09-29 07:02:49"	""	""	"PCR"	"DNA"	"blood"	""
"0000384559"	"00383335"	"1"	"00000"	"00008"	"2021-09-29 07:02:49"	""	""	"PCR"	"DNA"	"blood"	""
"0000384561"	"00383337"	"1"	"00000"	"00008"	"2021-09-29 07:02:49"	""	""	"PCR;SEQ;HD"	"DNA"	"blood"	""
"0000384563"	"00383339"	"1"	"00000"	"00008"	"2021-09-29 07:02:49"	""	""	"PCR;SEQ;HD"	"DNA"	"blood"	""
"0000384571"	"00383347"	"1"	"00000"	"00008"	"2021-09-29 07:02:49"	""	""	"PCR;SEQ;HD"	"DNA"	"blood"	""
"0000384576"	"00383352"	"1"	"00000"	"00008"	"2021-09-29 07:02:49"	""	""	"PCR;SEQ"	"DNA"	"blood"	""
"0000384577"	"00383353"	"1"	"00000"	"00008"	"2021-09-29 07:02:49"	""	""	"PCR;SEQ"	"DNA"	"blood"	""
"0000384578"	"00383354"	"1"	"00000"	"00008"	"2021-09-29 07:02:49"	""	""	"PCR;SEQ"	"DNA"	"blood"	""
"0000384579"	"00383355"	"1"	"00000"	"00008"	"2021-09-29 07:02:49"	""	""	"PCR;SEQ"	"DNA"	"blood"	""
"0000384580"	"00383356"	"1"	"00000"	"00008"	"2021-09-29 07:02:49"	""	""	"PCR;SEQ"	"DNA"	"blood"	""
"0000384581"	"00383357"	"1"	"00000"	"00008"	"2021-09-29 07:02:49"	""	""	"PCR;SEQ"	"DNA"	"blood"	""
"0000384586"	"00383362"	"1"	"00000"	"00008"	"2021-09-29 07:02:49"	""	""	"?"	"DNA"	""	""
"0000384587"	"00383363"	"1"	"00000"	"00008"	"2021-09-29 07:02:49"	""	""	"?"	"DNA"	""	""
"0000384588"	"00383364"	"1"	"00000"	"00008"	"2021-09-29 07:02:49"	""	""	"?"	"DNA"	""	""
"0000384589"	"00383365"	"1"	"00000"	"00008"	"2021-09-29 07:02:49"	""	""	"?"	"DNA"	""	""
"0000384590"	"00383366"	"1"	"00000"	"00008"	"2021-09-29 07:02:49"	""	""	"?"	"DNA"	""	""
"0000384591"	"00383367"	"1"	"00000"	"00008"	"2021-09-29 07:02:49"	""	""	"?"	"DNA"	""	""
"0000384592"	"00383368"	"1"	"00000"	"00008"	"2021-09-29 07:02:49"	""	""	"?"	"DNA"	""	""
"0000384596"	"00383372"	"1"	"00000"	"00008"	"2021-09-29 07:02:49"	""	""	"?"	"DNA"	""	""
"0000384599"	"00383375"	"1"	"00000"	"00008"	"2021-09-29 07:02:49"	""	""	"?"	"DNA"	""	""
"0000384688"	"00383463"	"1"	"00000"	"03840"	"2021-09-29 11:24:51"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"described in ��lvarez-Satta M, PMID:2461"
"0000384689"	"00383464"	"1"	"00000"	"03840"	"2021-09-29 11:24:51"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"described in ��lvarez-Satta M, PMID:246"
"0000384690"	"00383465"	"1"	"00000"	"03840"	"2021-09-29 11:24:51"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"described in ��lvarez-Satta M, PMID:246"
"0000384882"	"00383657"	"1"	"00000"	"03840"	"2021-09-29 12:18:14"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood;saliva"	"panel containing 18 BBS genes"
"0000384886"	"00383661"	"1"	"00000"	"03840"	"2021-09-29 12:18:14"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood;saliva"	"panel containing 18 BBS genes"
"0000385347"	"00384122"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385348"	"00384123"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385430"	"00384205"	"1"	"00000"	"03840"	"2021-09-29 13:14:43"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"108-gene panel targeted resequencing using MIPs library prep"
"0000385885"	"00384659"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000385886"	"00384660"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000385887"	"00384661"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000385888"	"00384662"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000385889"	"00384663"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000385890"	"00384664"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000385891"	"00384665"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000385892"	"00384666"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000385893"	"00384667"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000385894"	"00384668"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000385895"	"00384669"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000385896"	"00384670"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000385940"	"00384714"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000385952"	"00384726"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000385961"	"00384735"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000385962"	"00384736"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000386010"	"00384784"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"arraySNP;SEQ;RT-PCR"	"DNA;RNA"	"blood"	""
"0000386011"	"00384785"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"arraySNP;SEQ;RT-PCR"	"DNA;RNA"	"blood"	""
"0000386012"	"00384786"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"arraySNP;SEQ;RT-PCR"	"DNA;RNA"	"blood"	""
"0000386013"	"00384787"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"arraySNP;SEQ;RT-PCR"	"DNA;RNA"	"blood"	""
"0000386014"	"00384788"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"arraySNP;SEQ;RT-PCR"	"DNA;RNA"	"blood"	""
"0000386027"	"00384801"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"arraySNP;SEQ;RT-PCR"	"DNA;RNA"	"blood"	""
"0000386028"	"00384802"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"arraySNP;SEQ;RT-PCR"	"DNA;RNA"	"blood"	""
"0000386029"	"00384803"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"arraySNP;SEQ;RT-PCR"	"DNA;RNA"	"blood"	""
"0000386030"	"00384804"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"arraySNP;SEQ;RT-PCR"	"DNA;RNA"	"blood"	""
"0000386031"	"00384805"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"arraySNP;SEQ;RT-PCR"	"DNA;RNA"	"blood"	""
"0000386032"	"00384806"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"arraySNP;SEQ;RT-PCR"	"DNA;RNA"	"blood"	""
"0000386033"	"00384807"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"arraySNP;SEQ;RT-PCR"	"DNA;RNA"	"blood"	""
"0000386039"	"00384813"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"arraySNP;SEQ;RT-PCR"	"DNA;RNA"	"blood"	""
"0000386040"	"00384814"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"arraySNP;SEQ;RT-PCR"	"DNA;RNA"	"blood"	""
"0000386044"	"00384818"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"arraySNP;SEQ;RT-PCR"	"DNA;RNA"	"blood"	""
"0000386051"	"00384825"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"arraySNP;SEQ;RT-PCR"	"DNA;RNA"	"blood"	""
"0000386052"	"00384826"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"arraySNP;SEQ;RT-PCR"	"DNA;RNA"	"blood"	""
"0000386056"	"00384830"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"arraySNP;SEQ;RT-PCR"	"DNA;RNA"	"blood"	""
"0000386057"	"00384831"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"arraySNP;SEQ;RT-PCR"	"DNA;RNA"	"blood"	""
"0000386060"	"00384834"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"arraySNP;SEQ;RT-PCR"	"DNA;RNA"	"blood"	""
"0000386063"	"00384837"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"arraySNP;SEQ;RT-PCR"	"DNA;RNA"	"blood"	""
"0000386064"	"00384838"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"arraySNP;SEQ;RT-PCR"	"DNA;RNA"	"blood"	""
"0000386065"	"00384839"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"arraySNP;SEQ;RT-PCR"	"DNA;RNA"	"blood"	""
"0000386379"	"00385150"	"1"	"00000"	"03840"	"2021-10-08 17:29:22"	""	""	"SEQ-NG-I"	"DNA"	""	"105 genes panel"
"0000386380"	"00385151"	"1"	"00000"	"03840"	"2021-10-08 17:29:22"	""	""	"SEQ-NG-I"	"DNA"	""	"176 genes panel"
"0000386381"	"00385152"	"1"	"00000"	"03840"	"2021-10-08 17:29:22"	""	""	"SEQ-NG-I"	"DNA"	""	"176 genes panel"
"0000386397"	"00385168"	"1"	"00000"	"03840"	"2021-10-08 17:29:22"	""	""	"SEQ-NG-I"	"DNA"	""	"176 genes panel"
"0000386398"	"00385169"	"1"	"00000"	"03840"	"2021-10-08 17:29:22"	""	""	"SEQ-NG-I"	"DNA"	""	"176 genes panel"
"0000386407"	"00385178"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000386408"	"00385179"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000386409"	"00385180"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000386415"	"00385186"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000386416"	"00385187"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000386417"	"00385188"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000386418"	"00385189"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000386419"	"00385190"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000386420"	"00385191"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000386421"	"00385192"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000386422"	"00385193"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000386423"	"00385194"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000386424"	"00385195"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000386425"	"00385196"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000386426"	"00385197"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000386427"	"00385198"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000386428"	"00385199"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000386429"	"00385200"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000386430"	"00385201"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000386457"	"00385228"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"arrayCNV;SEQ"	"DNA"	"blood"	""
"0000386468"	"00385239"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"arrayCNV;SEQ"	"DNA"	"blood"	""
"0000386470"	"00385241"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"arrayCNV;SEQ"	"DNA"	"blood"	""
"0000386475"	"00385246"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"arrayCNV;SEQ"	"DNA"	"blood"	""
"0000386477"	"00385248"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"arrayCNV;SEQ"	"DNA"	"blood"	""
"0000386478"	"00385249"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"arrayCNV;SEQ"	"DNA"	"blood"	""
"0000386502"	"00385273"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"SEQ"	"DNA"	""	"targeted exon capture strategy"
"0000386503"	"00385274"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"SEQ"	"DNA"	""	"targeted exon capture strategy"
"0000386506"	"00385277"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"SEQ"	"DNA"	""	"targeted exon capture strategy"
"0000386507"	"00385278"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"SEQ"	"DNA"	""	"targeted exon capture strategy"
"0000386508"	"00385279"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"SEQ"	"DNA"	""	"targeted exon capture strategy"
"0000386509"	"00385280"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"SEQ"	"DNA"	""	"targeted exon capture strategy"
"0000386517"	"00385288"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"?"	"?"	""	""
"0000386518"	"00385289"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"?"	"?"	""	""
"0000386519"	"00385290"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"PCR"	"DNA"	""	""
"0000386520"	"00385291"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"PCR"	"DNA"	""	""
"0000386521"	"00385292"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"PCR"	"DNA"	""	""
"0000386522"	"00385293"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"PCR"	"DNA"	""	""
"0000386523"	"00385294"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"PCR"	"DNA"	""	""
"0000386524"	"00385295"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"PCR"	"DNA"	""	""
"0000386525"	"00385296"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"PCR"	"DNA"	""	""
"0000386526"	"00385297"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"PCR"	"DNA"	""	""
"0000386527"	"00385298"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"PCR"	"DNA"	""	""
"0000386528"	"00385299"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"PCR"	"DNA"	""	""
"0000386546"	"00385317"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"PCR"	"DNA"	""	""
"0000386547"	"00385318"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"PCR"	"DNA"	""	""
"0000386548"	"00385319"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"PCR"	"DNA"	""	""
"0000386549"	"00385320"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"PCR"	"DNA"	""	""
"0000386550"	"00385321"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"PCR"	"DNA"	""	""
"0000386551"	"00385322"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"PCR"	"DNA"	""	""
"0000386552"	"00385323"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"PCR"	"DNA"	""	""
"0000386553"	"00385324"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"PCR"	"DNA"	""	""
"0000386554"	"00385325"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"PCR"	"DNA"	""	""
"0000386555"	"00385326"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"PCR"	"DNA"	""	""
"0000386556"	"00385327"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"PCR"	"DNA"	""	""
"0000386557"	"00385328"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"PCR"	"DNA"	""	""
"0000386558"	"00385329"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"PCR"	"DNA"	""	""
"0000386559"	"00385330"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"PCR"	"DNA"	""	""
"0000386566"	"00385337"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"PCR"	"DNA"	""	""
"0000386591"	"00385362"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"PCR"	"DNA"	""	""
"0000386603"	"00385374"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"PCR"	"DNA"	""	""
"0000386613"	"00385384"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"?"	"?"	"blood"	""
"0000386614"	"00385385"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"?"	"?"	"blood"	""
"0000386617"	"00385388"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"?"	"?"	"blood"	""
"0000386791"	"00385562"	"1"	"00000"	"00008"	"2021-10-13 10:28:12"	""	""	"SEQ;HD"	"DNA"	""	"SEQ or HD"
"0000386801"	"00385572"	"1"	"00000"	"00008"	"2021-10-13 10:28:12"	""	""	"SEQ;HD"	"DNA"	""	"SEQ or HD"
"0000386802"	"00385573"	"1"	"00000"	"00008"	"2021-10-13 10:28:12"	""	""	"SEQ;HD"	"DNA"	""	"SEQ or HD"
"0000386803"	"00385574"	"1"	"00000"	"00008"	"2021-10-13 10:28:12"	""	""	"SEQ;HD"	"DNA"	""	"SEQ or HD"
"0000386804"	"00385575"	"1"	"00000"	"00008"	"2021-10-13 10:28:12"	""	""	"SEQ;HD"	"DNA"	""	"SEQ or HD"
"0000386818"	"00385589"	"1"	"00000"	"00008"	"2021-10-13 10:28:12"	""	""	"SEQ;HD"	"DNA"	""	"SEQ or HD"
"0000386820"	"00385591"	"1"	"00000"	"00008"	"2021-10-13 10:28:12"	""	""	"SEQ"	"DNA"	""	""
"0000386821"	"00385592"	"1"	"00000"	"00008"	"2021-10-13 10:28:12"	""	""	"HD"	"DNA"	""	""
"0000386822"	"00385593"	"1"	"00000"	"00008"	"2021-10-13 10:28:12"	""	""	"SEQ"	"DNA"	""	""
"0000386823"	"00385594"	"1"	"00000"	"00008"	"2021-10-13 10:28:12"	""	""	"SEQ"	"DNA"	""	""
"0000386851"	"00385622"	"1"	"00000"	"00008"	"2021-10-13 10:28:12"	""	""	"SEQ-NG"	"DNA"	""	""
"0000386852"	"00385623"	"1"	"00000"	"00008"	"2021-10-13 10:28:12"	""	""	"arraySNP"	"DNA"	""	"RD-xip"
"0000386853"	"00385624"	"1"	"00000"	"00008"	"2021-10-13 10:28:12"	""	""	"SEQ-NG"	"DNA"	""	""
"0000386869"	"00385640"	"1"	"00000"	"00008"	"2021-10-13 10:28:12"	""	""	"arrayCGH;SEQ;TaqMan"	"DNA"	""	""
"0000387830"	"00386602"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000387937"	"00386709"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000388074"	"00386846"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000388089"	"00386861"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000388357"	"00387131"	"1"	"00000"	"03840"	"2021-10-28 13:59:26"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000388668"	"00387442"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000388669"	"00387443"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000388670"	"00387444"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000388671"	"00387445"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000388672"	"00387446"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000388673"	"00387447"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000388674"	"00387448"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000388675"	"00387449"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000388676"	"00387450"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000388677"	"00387451"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000388678"	"00387452"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000388679"	"00387453"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000388680"	"00387454"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000388681"	"00387455"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000388682"	"00387456"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000388683"	"00387457"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000388684"	"00387458"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000388685"	"00387459"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000388686"	"00387460"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000388687"	"00387461"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000388688"	"00387462"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000388689"	"00387463"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000388690"	"00387464"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000388691"	"00387465"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000388692"	"00387466"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000388693"	"00387467"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000388694"	"00387468"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000388695"	"00387469"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000388696"	"00387470"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000388697"	"00387471"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000388698"	"00387472"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000388699"	"00387473"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000388700"	"00387474"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000388780"	"00387554"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"arraySNP;SEQ-NG;PCR"	"DNA"	"blood"	""
"0000388808"	"00387582"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000388809"	"00387583"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000389266"	"00388027"	"1"	"00000"	"00008"	"2021-11-02 00:52:48"	"00008"	"2021-11-04 08:55:19"	"SEQ-NG;arrayCGH;SEQ"	"DNA"	"blood"	""
"0000389267"	"00388028"	"1"	"00000"	"00008"	"2021-11-02 00:52:48"	"00008"	"2021-11-04 08:55:19"	"SEQ-NG;arrayCGH;SEQ"	"DNA"	"blood"	""
"0000389272"	"00388035"	"1"	"00000"	"00008"	"2021-11-02 00:52:48"	"00008"	"2021-11-04 08:55:19"	"arraySNP"	"DNA"	"blood"	"BBS-ALMS1 mutation array"
"0000389274"	"00388036"	"1"	"00000"	"00008"	"2021-11-02 00:52:48"	"00008"	"2021-11-04 08:55:19"	"arraySNP"	"DNA"	"blood"	"BBS-ALMS1 mutation array"
"0000389276"	"00388037"	"1"	"00000"	"00008"	"2021-11-02 00:52:48"	"00008"	"2021-11-04 08:55:19"	"arraySNP"	"DNA"	"blood"	"BBS-ALMS1 mutation array"
"0000389277"	"00388038"	"1"	"00000"	"00008"	"2021-11-02 00:52:48"	"00008"	"2021-11-04 08:55:19"	"arraySNP"	"DNA"	"blood"	"BBS-ALMS1 mutation array"
"0000389278"	"00388039"	"1"	"00000"	"00008"	"2021-11-02 00:52:48"	"00008"	"2021-11-04 08:55:19"	"arraySNP"	"DNA"	"blood"	"BBS-ALMS1 mutation array"
"0000389279"	"00388040"	"1"	"00000"	"00008"	"2021-11-02 00:52:48"	"00008"	"2021-11-04 08:55:19"	"arraySNP"	"DNA"	"blood"	"BBS-ALMS1 mutation array"
"0000389280"	"00388041"	"1"	"00000"	"00008"	"2021-11-02 00:52:48"	"00008"	"2021-11-04 08:55:19"	"arraySNP"	"DNA"	"blood"	"BBS-ALMS1 mutation array"
"0000389384"	"00388145"	"1"	"00000"	"03840"	"2021-11-02 11:59:44"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing"
"0000389768"	"00388526"	"1"	"00000"	"03840"	"2021-11-04 13:39:46"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	"whole exome sequencing"
"0000389796"	"00388554"	"1"	"00000"	"03840"	"2021-11-04 19:02:37"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood;saliva"	"targeted sequencing with 1 of 4 panels of OFTALMOgenics probes"
"0000389975"	"00388732"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000389976"	"00388733"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET4 targeted sequencing panel - see paper"
"0000389990"	"00388747"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET3 targeted sequencing panel - see paper"
"0000389991"	"00388748"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET2 targeted sequencing panel - see paper"
"0000390011"	"00388768"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET4 targeted sequencing panel - see paper"
"0000390065"	"00388822"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET6 targeted sequencing panel - see paper"
"0000390079"	"00388836"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET7 targeted sequencing panel - see paper"
"0000390110"	"00388867"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET7 targeted sequencing panel - see paper"
"0000390122"	"00388879"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000390177"	"00388934"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET4 targeted sequencing panel - see paper"
"0000390770"	"00389527"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000390838"	"00389595"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET9 targeted sequencing panel - see paper"
"0000390978"	"00389735"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET1 targeted sequencing panel - see paper"
"0000391171"	"00389928"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000391196"	"00389953"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000391201"	"00389958"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000391210"	"00389967"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000391281"	"00390040"	"1"	"00000"	"03840"	"2021-11-08 12:45:13"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"326 selected genes from whole exome sequencing"
"0000391410"	"00390169"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000391411"	"00390170"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000391412"	"00390171"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000391413"	"00390172"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000392815"	"00391573"	"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"
"0000395214"	"00393966"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG"	"DNA"	""	""
"0000395606"	"00394359"	"1"	"00000"	"03840"	"2021-12-01 10:17:04"	""	""	"SEQ-NG"	"DNA"	""	"retrospective analysis"
"0000396824"	"00395586"	"1"	"00000"	"03840"	"2021-12-08 14:12:08"	""	""	"?"	"DNA"	""	"whole exome sequencing"
"0000396841"	"00395603"	"1"	"00000"	"03840"	"2021-12-08 14:12:08"	""	""	"?"	"DNA"	""	"whole exome sequencing"
"0000396842"	"00395604"	"1"	"00000"	"03840"	"2021-12-08 14:12:08"	""	""	"?"	"DNA"	""	"clinical exome sequencing"
"0000396848"	"00395610"	"1"	"00000"	"03840"	"2021-12-08 14:12:08"	""	""	"?"	"DNA"	""	"clinical exome sequencing"
"0000396856"	"00395618"	"1"	"00000"	"03840"	"2021-12-08 14:12:08"	""	""	"?"	"DNA"	""	"clinical exome sequencing"
"0000397671"	"00396430"	"1"	"00006"	"00006"	"2021-12-15 14:29:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WGS"
"0000397713"	"00396470"	"1"	"00000"	"03840"	"2021-12-16 12:35:05"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"panel of 254 genes implicated in retinopathies"
"0000397782"	"00396539"	"1"	"00000"	"00008"	"2021-12-16 13:33:12"	""	""	"SEQ"	"DNA"	""	""
"0000397784"	"00396541"	"1"	"00000"	"00008"	"2021-12-16 13:33:12"	""	""	"SEQ"	"DNA"	""	""
"0000397786"	"00396543"	"1"	"00000"	"00008"	"2021-12-16 13:33:12"	""	""	"SEQ"	"DNA"	""	""
"0000397788"	"00396545"	"1"	"00000"	"00008"	"2021-12-16 13:33:12"	""	""	"SEQ"	"DNA"	""	""
"0000397790"	"00396547"	"1"	"00000"	"00008"	"2021-12-16 13:33:12"	""	""	"SEQ"	"DNA"	""	""
"0000397792"	"00396549"	"1"	"00000"	"00008"	"2021-12-16 13:33:12"	""	""	"SEQ"	"DNA"	""	""
"0000397794"	"00396551"	"1"	"00000"	"00008"	"2021-12-16 13:33:12"	""	""	"SEQ"	"DNA"	""	""
"0000397796"	"00396553"	"1"	"00000"	"00008"	"2021-12-16 13:33:12"	""	""	"SEQ"	"DNA"	""	""
"0000397798"	"00396555"	"1"	"00000"	"00008"	"2021-12-16 13:33:12"	""	""	"SEQ"	"DNA"	""	""
"0000397800"	"00396557"	"1"	"00000"	"00008"	"2021-12-16 13:33:12"	""	""	"SEQ"	"DNA"	""	""
"0000397802"	"00396559"	"1"	"00000"	"00008"	"2021-12-16 13:33:12"	""	""	"SEQ"	"DNA"	""	""
"0000397804"	"00396561"	"1"	"00000"	"00008"	"2021-12-16 13:33:12"	""	""	"SEQ"	"DNA"	""	""
"0000397806"	"00396563"	"1"	"00000"	"00008"	"2021-12-16 13:33:12"	""	""	"SEQ"	"DNA"	""	""
"0000399046"	"00397804"	"1"	"00006"	"00006"	"2021-12-29 09:59:04"	""	""	"SEQ"	"DNA"	""	"COL6A1, COL6A2, COL6A3"
"0000401037"	"00399794"	"1"	"00006"	"00006"	"2022-01-23 12:37:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000405508"	"00404269"	"1"	"00006"	"00006"	"2022-02-28 07:55:41"	""	""	"SEQ"	"DNA"	""	""
"0000409608"	"00408351"	"1"	"00000"	"03840"	"2022-04-20 15:25:39"	""	""	"?"	"DNA"	""	""
"0000409609"	"00408352"	"1"	"00000"	"03840"	"2022-04-20 15:25:39"	""	""	"?"	"DNA"	""	""
"0000409610"	"00408353"	"1"	"00000"	"03840"	"2022-04-20 15:25:39"	""	""	"?"	"DNA"	""	""
"0000409611"	"00408354"	"1"	"00000"	"03840"	"2022-04-20 15:25:39"	""	""	"?"	"DNA"	""	""
"0000409612"	"00408355"	"1"	"00000"	"03840"	"2022-04-20 15:25:39"	""	""	"?"	"DNA"	""	""
"0000409613"	"00408356"	"1"	"00000"	"03840"	"2022-04-20 15:25:39"	""	""	"?"	"DNA"	""	""
"0000409614"	"00408357"	"1"	"00000"	"03840"	"2022-04-20 15:25:39"	""	""	"?"	"DNA"	""	""
"0000409615"	"00408358"	"1"	"00000"	"03840"	"2022-04-20 15:25:39"	""	""	"?"	"DNA"	""	""
"0000409616"	"00408359"	"1"	"00000"	"03840"	"2022-04-20 15:25:39"	""	""	"?"	"DNA"	""	""
"0000409617"	"00408360"	"1"	"00000"	"03840"	"2022-04-20 15:25:39"	""	""	"?"	"DNA"	""	""
"0000409618"	"00408361"	"1"	"00000"	"03840"	"2022-04-20 15:25:39"	""	""	"?"	"DNA"	""	""
"0000413743"	"00412473"	"1"	"00000"	"03840"	"2022-06-29 11:39:42"	""	""	"SEQ"	"DNA"	"dermal fibroblasts-derived cell line"	"nucleofection with non-integrating episomal plasmids carrying OCT3/4, SOX2, KLF4, L-MYC, LIN28 and shP53"
"0000413744"	"00412474"	"1"	"00000"	"03840"	"2022-06-29 12:08:57"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"whole-exome sequencing"
"0000413745"	"00412475"	"1"	"00000"	"03840"	"2022-06-29 13:33:34"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"whole-exome sequencing"
"0000413746"	"00412476"	"1"	"00000"	"03840"	"2022-06-29 13:33:34"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"whole-exome sequencing"
"0000413747"	"00412477"	"1"	"00000"	"03840"	"2022-06-29 13:33:34"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"whole-exome sequencing"
"0000413748"	"00412478"	"1"	"00000"	"03840"	"2022-06-29 13:33:34"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"whole-exome sequencing"
"0000413749"	"00412479"	"1"	"00000"	"03840"	"2022-06-29 13:33:34"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"whole-exome sequencing"
"0000413750"	"00412480"	"1"	"00000"	"03840"	"2022-06-29 13:33:34"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"whole-exome sequencing"
"0000413751"	"00412481"	"1"	"00000"	"03840"	"2022-06-29 13:33:34"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"whole-exome sequencing"
"0000413752"	"00412482"	"1"	"00000"	"03840"	"2022-06-29 13:33:34"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"whole-exome sequencing"
"0000413753"	"00412483"	"1"	"00000"	"03840"	"2022-06-29 13:33:34"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"whole-exome sequencing"
"0000413754"	"00412484"	"1"	"00000"	"03840"	"2022-06-29 13:33:34"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"whole-exome sequencing"
"0000413755"	"00412485"	"1"	"00000"	"03840"	"2022-06-29 13:33:34"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"whole-exome sequencing"
"0000413756"	"00412486"	"1"	"00000"	"03840"	"2022-06-29 13:33:34"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"whole-exome sequencing"
"0000413757"	"00412487"	"1"	"00000"	"03840"	"2022-06-29 13:33:34"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"whole-exome sequencing"
"0000415622"	"00414342"	"1"	"00000"	"03840"	"2022-07-28 13:16:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000418813"	"00417520"	"1"	"00000"	"03840"	"2022-09-18 20:43:24"	""	""	"arraySNP;SEQ"	"DNA"	""	""
"0000418814"	"00417521"	"1"	"00000"	"03840"	"2022-09-18 20:43:24"	""	""	"arraySNP;SEQ"	"DNA"	""	""
"0000419792"	"00418497"	"1"	"00000"	"03840"	"2022-09-29 14:32:13"	""	""	"SEQ"	"DNA"	""	""
"0000419793"	"00418498"	"1"	"00000"	"03840"	"2022-09-29 14:32:13"	""	""	"SEQ"	"DNA"	""	""
"0000419934"	"00418639"	"1"	"00006"	"00006"	"2022-10-03 15:12:47"	""	""	"SEQ"	"DNA"	""	""
"0000419944"	"00418650"	"1"	"00006"	"00006"	"2022-10-03 16:24:08"	""	""	"SEQ"	"DNA"	""	""
"0000419945"	"00418651"	"1"	"00006"	"00006"	"2022-10-03 16:24:08"	""	""	"SEQ"	"DNA"	""	""
"0000419946"	"00418652"	"1"	"00006"	"00006"	"2022-10-03 16:24:08"	""	""	"SEQ"	"DNA"	""	""
"0000419947"	"00418653"	"1"	"00006"	"00006"	"2022-10-03 16:24:08"	""	""	"SEQ"	"DNA"	""	""
"0000419948"	"00418654"	"1"	"00006"	"00006"	"2022-10-03 16:24:08"	""	""	"SEQ"	"DNA"	""	""
"0000419949"	"00418655"	"1"	"00006"	"00006"	"2022-10-03 16:24:08"	""	""	"SEQ"	"DNA"	""	""
"0000420007"	"00418712"	"1"	"00006"	"00006"	"2022-10-04 17:07:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"panel"
"0000428265"	"00426945"	"1"	"00000"	"03840"	"2022-12-03 18:53:15"	""	""	"SEQ-NG;SEQ"	"DNA"	"saliva"	"panel-based next generation sequencing"
"0000431033"	"00429620"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431049"	"00429636"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431322"	"00429909"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431438"	"00430025"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000448554"	"00446977"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448702"	"00447125"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449077"	"00447500"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449181"	"00447604"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449199"	"00447622"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000466197"	"00464557"	"1"	"04333"	"04333"	"2025-03-27 13:09:14"	""	""	"SEQ-NG"	"DNA"	""	""
"0000467039"	"00465390"	"1"	"00006"	"00006"	"2025-05-15 16:56:51"	""	""	"SEQ;MLPA"	"DNA"	""	""
"0000467040"	"00465391"	"1"	"00006"	"00006"	"2025-05-15 16:56:51"	""	""	"SEQ;MLPA"	"DNA"	""	""
"0000470363"	"00468695"	"1"	"00006"	"00006"	"2025-11-13 13:02:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000470364"	"00468696"	"1"	"00006"	"00006"	"2025-11-13 13:02:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000471244"	"00469576"	"1"	"00006"	"00006"	"2025-11-18 12:45:53"	""	""	"arrayCGH"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 637
"{{screeningid}}"	"{{geneid}}"
"0000000029"	"ALG9"
"0000000029"	"ASPM"
"0000000029"	"B3GLCT"
"0000000029"	"BBS1"
"0000000029"	"CBS"
"0000000029"	"CC2D1A"
"0000000029"	"CDK5RAP2"
"0000000029"	"DLG3"
"0000000029"	"DNMT3B"
"0000000029"	"DPM1"
"0000000029"	"DPP3"
"0000000029"	"GLI3"
"0000000029"	"JAG1"
"0000000029"	"KRAS"
"0000000029"	"MECP2"
"0000000029"	"MPDU1"
"0000000029"	"NLGN4X"
"0000000029"	"NSD1"
"0000000029"	"PHF8"
"0000000029"	"PMM2"
"0000000029"	"RAI1"
"0000000029"	"REST"
"0000000029"	"SATB2"
"0000000029"	"SCN8A"
"0000000029"	"SHANK3"
"0000000029"	"SLC35C1"
"0000000029"	"TCF4"
"0000000029"	"TSC1"
"0000000029"	"UPF3B"
"0000000029"	"ZEB2"
"0000000029"	"ZNF41"
"0000000070"	"ACADSB"
"0000000070"	"ATP7B"
"0000000070"	"CFTR"
"0000000070"	"ETFB"
"0000000070"	"HBA1"
"0000000070"	"IGHMBP2"
"0000000070"	"MTHFR"
"0000000070"	"MYO5A"
"0000000070"	"SERPINA1"
"0000000070"	"SLC26A2"
"0000081531"	"HTT"
"0000081532"	"HTT"
"0000088290"	"BBS1"
"0000145016"	"EYS"
"0000156247"	"BBS1"
"0000156248"	"BBS1"
"0000156249"	"BBS1"
"0000208855"	"BBS1"
"0000234317"	"BBS1"
"0000234318"	"BBS1"
"0000234319"	"BBS1"
"0000234320"	"BBS1"
"0000234321"	"BBS1"
"0000234322"	"BBS1"
"0000234323"	"BBS1"
"0000234324"	"BBS1"
"0000234325"	"BBS1"
"0000234326"	"BBS1"
"0000234327"	"BBS1"
"0000234328"	"BBS1"
"0000234329"	"BBS1"
"0000234330"	"BBS1"
"0000234331"	"BBS1"
"0000234332"	"BBS1"
"0000309620"	"BBS1"
"0000309782"	"BBS1"
"0000310098"	"BBS1"
"0000310099"	"BBS1"
"0000310100"	"BBS1"
"0000310101"	"BBS1"
"0000329145"	"BBS1"
"0000329156"	"BBS1"
"0000329178"	"BBS1"
"0000329287"	"BBS1"
"0000329298"	"BBS1"
"0000329404"	"BBS1"
"0000329432"	"BBS1"
"0000329698"	"BBS1"
"0000329720"	"BBS1"
"0000332953"	"BBS1"
"0000334621"	"BBS1"
"0000335033"	"BBS1"
"0000335034"	"BBS1"
"0000335035"	"BBS1"
"0000335117"	"BBS1"
"0000335118"	"BBS1"
"0000335146"	"BBS1"
"0000335295"	"BBS1"
"0000335296"	"BBS1"
"0000335297"	"BBS1"
"0000335298"	"BBS1"
"0000335299"	"BBS1"
"0000335300"	"BBS1"
"0000335301"	"BBS1"
"0000335302"	"BBS1"
"0000335303"	"BBS1"
"0000335304"	"BBS1"
"0000335305"	"BBS1"
"0000335306"	"BBS1"
"0000335307"	"BBS1"
"0000336312"	"BBS1"
"0000336313"	"BBS1"
"0000336314"	"BBS1"
"0000359949"	"BBS1"
"0000360040"	"BBS1"
"0000360041"	"BBS1"
"0000360041"	"BBS4"
"0000360041"	"BBS5"
"0000360041"	"BBS7"
"0000360041"	"NPHP1"
"0000360042"	"BBS1"
"0000360042"	"BBS5"
"0000360043"	"BBS1"
"0000360043"	"BBS10"
"0000360093"	"BBS1"
"0000360093"	"TMEM138"
"0000360103"	"BBS1"
"0000360103"	"TMEM138"
"0000364654"	"BBS1"
"0000364655"	"BBS1"
"0000364657"	"BBS1"
"0000375054"	"RP1"
"0000375082"	"BBS1"
"0000375112"	"BBS1"
"0000375168"	"BBS1"
"0000376176"	"BBS1"
"0000380547"	"ARL6"
"0000380547"	"BBS1"
"0000380547"	"BBS10"
"0000380547"	"BBS12"
"0000380547"	"BBS2"
"0000380547"	"BBS4"
"0000380547"	"BBS5"
"0000380547"	"BBS7"
"0000380547"	"BBS9"
"0000380547"	"MKKS"
"0000380547"	"TRIM32"
"0000380547"	"TTC8"
"0000380548"	"ARL6"
"0000380548"	"BBS1"
"0000380548"	"BBS10"
"0000380548"	"BBS12"
"0000380548"	"BBS2"
"0000380548"	"BBS4"
"0000380548"	"BBS5"
"0000380548"	"BBS7"
"0000380548"	"BBS9"
"0000380548"	"MKKS"
"0000380548"	"TRIM32"
"0000380548"	"TTC8"
"0000380549"	"ARL6"
"0000380549"	"BBS1"
"0000380549"	"BBS10"
"0000380549"	"BBS12"
"0000380549"	"BBS2"
"0000380549"	"BBS4"
"0000380549"	"BBS5"
"0000380549"	"BBS7"
"0000380549"	"BBS9"
"0000380549"	"MKKS"
"0000380549"	"TRIM32"
"0000380549"	"TTC8"
"0000380550"	"ARL6"
"0000380550"	"BBS1"
"0000380550"	"BBS10"
"0000380550"	"BBS12"
"0000380550"	"BBS2"
"0000380550"	"BBS4"
"0000380550"	"BBS5"
"0000380550"	"BBS7"
"0000380550"	"BBS9"
"0000380550"	"MKKS"
"0000380550"	"TRIM32"
"0000380550"	"TTC8"
"0000380551"	"ARL6"
"0000380551"	"BBS1"
"0000380551"	"BBS10"
"0000380551"	"BBS12"
"0000380551"	"BBS2"
"0000380551"	"BBS4"
"0000380551"	"BBS5"
"0000380551"	"BBS7"
"0000380551"	"BBS9"
"0000380551"	"MKKS"
"0000380551"	"TRIM32"
"0000380551"	"TTC8"
"0000380552"	"ARL6"
"0000380552"	"BBS1"
"0000380552"	"BBS10"
"0000380552"	"BBS12"
"0000380552"	"BBS2"
"0000380552"	"BBS4"
"0000380552"	"BBS5"
"0000380552"	"BBS7"
"0000380552"	"BBS9"
"0000380552"	"MKKS"
"0000380552"	"TRIM32"
"0000380552"	"TTC8"
"0000380553"	"ARL6"
"0000380553"	"BBS1"
"0000380553"	"BBS10"
"0000380553"	"BBS12"
"0000380553"	"BBS2"
"0000380553"	"BBS4"
"0000380553"	"BBS5"
"0000380553"	"BBS7"
"0000380553"	"BBS9"
"0000380553"	"MKKS"
"0000380553"	"TRIM32"
"0000380553"	"TTC8"
"0000380760"	"BBS1"
"0000380771"	"BBS1"
"0000381397"	"BBS1"
"0000381576"	"BBS1"
"0000381577"	"BBS1"
"0000382445"	"BBS1"
"0000382917"	"BBS1"
"0000382918"	"BBS1"
"0000383426"	"BBS1"
"0000383427"	"BBS1"
"0000383428"	"BBS1"
"0000383695"	"BBS1"
"0000383696"	"BBS1"
"0000383697"	"BBS1"
"0000383698"	"BBS1"
"0000383699"	"BBS1"
"0000383814"	"RPE65"
"0000384282"	"BBS1"
"0000384298"	"BBS1"
"0000384328"	"BBS1"
"0000384329"	"BBS1"
"0000384330"	"BBS1"
"0000384331"	"BBS1"
"0000384332"	"BBS1"
"0000384333"	"BBS1"
"0000384362"	"BBS1"
"0000384367"	"BBS1"
"0000384411"	"BBS10"
"0000384414"	"BBS1"
"0000384414"	"BBS10"
"0000384415"	"BBS10"
"0000384416"	"BBS1"
"0000384416"	"BBS10"
"0000384428"	"BBS1"
"0000384428"	"CEP290"
"0000384428"	"MKS1"
"0000384428"	"TMEM67"
"0000384429"	"BBS1"
"0000384429"	"CEP290"
"0000384429"	"MKS1"
"0000384429"	"TMEM67"
"0000384432"	"BBS1"
"0000384433"	"BBS1"
"0000384434"	"BBS1"
"0000384435"	"BBS1"
"0000384436"	"BBS1"
"0000384437"	"BBS1"
"0000384438"	"BBS1"
"0000384439"	"BBS1"
"0000384440"	"BBS1"
"0000384441"	"BBS1"
"0000384442"	"BBS1"
"0000384443"	"BBS1"
"0000384444"	"BBS1"
"0000384445"	"BBS1"
"0000384517"	"BBS1"
"0000384527"	"BBS1"
"0000384529"	"BBS1"
"0000384530"	"BBS1"
"0000384553"	"BBS1"
"0000384554"	"BBS1"
"0000384555"	"BBS1"
"0000384556"	"BBS1"
"0000384557"	"BBS1"
"0000384559"	"BBS2"
"0000384561"	"BBS1"
"0000384563"	"BBS1"
"0000384571"	"BBS1"
"0000384576"	"BBS1"
"0000384577"	"BBS1"
"0000384578"	"BBS1"
"0000384579"	"BBS1"
"0000384580"	"BBS1"
"0000384581"	"BBS1"
"0000384586"	"BBS1"
"0000384587"	"BBS1"
"0000384588"	"BBS1"
"0000384589"	"BBS1"
"0000384590"	"BBS1"
"0000384591"	"BBS1"
"0000384592"	"BBS2"
"0000384596"	"BBS2"
"0000384599"	"BBS7"
"0000384688"	"BBS1"
"0000384689"	"BBS1"
"0000384690"	"BBS1"
"0000384882"	"BBS12"
"0000384886"	"BBS1"
"0000385347"	"BBS1"
"0000385348"	"BBS1"
"0000385430"	"BBS1"
"0000385885"	"BBS1"
"0000385886"	"BBS1"
"0000385887"	"BBS1"
"0000385888"	"BBS1"
"0000385889"	"BBS1"
"0000385890"	"BBS1"
"0000385891"	"BBS1"
"0000385892"	"BBS1"
"0000385893"	"BBS1"
"0000385894"	"BBS1"
"0000385895"	"BBS1"
"0000385896"	"BBS1"
"0000385940"	"BBS10"
"0000385952"	"BBS12"
"0000385961"	"BBS1"
"0000385962"	"BBS1"
"0000386010"	"BBS1"
"0000386011"	"BBS1"
"0000386012"	"BBS1"
"0000386013"	"BBS1"
"0000386014"	"BBS1"
"0000386027"	"BBS1"
"0000386028"	"BBS1"
"0000386029"	"BBS1"
"0000386030"	"BBS1"
"0000386031"	"BBS1"
"0000386032"	"BBS1"
"0000386033"	"BBS1"
"0000386039"	"BBS1"
"0000386040"	"BBS1"
"0000386044"	"BBS1"
"0000386051"	"BBS1"
"0000386052"	"BBS1"
"0000386056"	"BBS1"
"0000386057"	"BBS1"
"0000386060"	"BBS12"
"0000386063"	"BBS10"
"0000386064"	"BBS5"
"0000386065"	"BBS4"
"0000386379"	"BBS1"
"0000386380"	"BBS1"
"0000386381"	"BBS1"
"0000386397"	"BBS1"
"0000386398"	"BBS1"
"0000386407"	"BBS1"
"0000386408"	"BBS1"
"0000386409"	"BBS1"
"0000386415"	"BBS12"
"0000386416"	"BBS1"
"0000386417"	"BBS1"
"0000386418"	"BBS1"
"0000386419"	"BBS1"
"0000386420"	"BBS1"
"0000386421"	"BBS1"
"0000386422"	"BBS1"
"0000386423"	"BBS1"
"0000386424"	"BBS1"
"0000386425"	"BBS1"
"0000386426"	"BBS1"
"0000386427"	"BBS1"
"0000386428"	"BBS1"
"0000386429"	"BBS1"
"0000386430"	"BBS1"
"0000386457"	"BBS1"
"0000386468"	"BBS1"
"0000386470"	"BBS1"
"0000386475"	"BBS1"
"0000386477"	"BBS1"
"0000386478"	"BBS1"
"0000386502"	"BBS1"
"0000386503"	"BBS1"
"0000386506"	"BBS1"
"0000386507"	"BBS1"
"0000386508"	"BBS1"
"0000386509"	"BBS1"
"0000386517"	"BBS1"
"0000386518"	"BBS1"
"0000386519"	"BBS1"
"0000386520"	"BBS1"
"0000386521"	"BBS1"
"0000386522"	"BBS1"
"0000386523"	"BBS1"
"0000386524"	"BBS1"
"0000386525"	"BBS1"
"0000386526"	"BBS1"
"0000386527"	"BBS1"
"0000386528"	"BBS1"
"0000386546"	"BBS1"
"0000386547"	"BBS4"
"0000386548"	"BBS1"
"0000386549"	"BBS1"
"0000386550"	"BBS1"
"0000386551"	"BBS1"
"0000386552"	"BBS10"
"0000386553"	"BBS10"
"0000386554"	"BBS1"
"0000386555"	"BBS12"
"0000386556"	"BBS1"
"0000386557"	"BBS1"
"0000386558"	"BBS1"
"0000386559"	"BBS1"
"0000386566"	"BBS1"
"0000386591"	"BBS1"
"0000386603"	"BBS1"
"0000386613"	"BBS9"
"0000386614"	"BBS1"
"0000386617"	"BBS1"
"0000386791"	"BBS1"
"0000386801"	"BBS1"
"0000386802"	"BBS1"
"0000386803"	"BBS1"
"0000386804"	"BBS1"
"0000386818"	"BBS1"
"0000386820"	"BBS1"
"0000386821"	"BBS1"
"0000386822"	"BBS1"
"0000386823"	"BBS1"
"0000386851"	"BBS1"
"0000386852"	"USH2A"
"0000386853"	"BBS1"
"0000386869"	"BBS1"
"0000387830"	"BBS1"
"0000387937"	"BBS1"
"0000388074"	"BBS1"
"0000388089"	"BBS1"
"0000388357"	"BBS1"
"0000388668"	"BBS1"
"0000388668"	"BBS10"
"0000388668"	"BBS12"
"0000388669"	"BBS1"
"0000388669"	"BBS10"
"0000388669"	"BBS12"
"0000388670"	"BBS1"
"0000388670"	"BBS10"
"0000388670"	"BBS12"
"0000388671"	"BBS1"
"0000388671"	"BBS10"
"0000388671"	"BBS12"
"0000388672"	"BBS1"
"0000388672"	"BBS10"
"0000388672"	"BBS12"
"0000388673"	"BBS1"
"0000388673"	"BBS10"
"0000388673"	"BBS12"
"0000388674"	"BBS1"
"0000388674"	"BBS10"
"0000388674"	"BBS12"
"0000388675"	"BBS1"
"0000388675"	"BBS10"
"0000388675"	"BBS12"
"0000388676"	"BBS1"
"0000388676"	"BBS10"
"0000388676"	"BBS12"
"0000388677"	"BBS1"
"0000388677"	"BBS10"
"0000388677"	"BBS12"
"0000388678"	"BBS1"
"0000388678"	"BBS10"
"0000388678"	"BBS12"
"0000388679"	"BBS1"
"0000388679"	"BBS10"
"0000388679"	"BBS12"
"0000388680"	"BBS1"
"0000388680"	"BBS10"
"0000388680"	"BBS12"
"0000388681"	"BBS1"
"0000388681"	"BBS10"
"0000388681"	"BBS12"
"0000388682"	"BBS1"
"0000388682"	"BBS10"
"0000388682"	"BBS12"
"0000388683"	"BBS1"
"0000388683"	"BBS10"
"0000388683"	"BBS12"
"0000388684"	"BBS1"
"0000388684"	"BBS10"
"0000388684"	"BBS12"
"0000388685"	"BBS1"
"0000388685"	"BBS10"
"0000388685"	"BBS12"
"0000388686"	"BBS1"
"0000388686"	"BBS10"
"0000388686"	"BBS12"
"0000388687"	"BBS1"
"0000388687"	"BBS10"
"0000388687"	"BBS12"
"0000388688"	"BBS1"
"0000388688"	"BBS10"
"0000388688"	"BBS12"
"0000388689"	"BBS1"
"0000388689"	"BBS10"
"0000388689"	"BBS12"
"0000388690"	"BBS1"
"0000388690"	"BBS10"
"0000388690"	"BBS12"
"0000388691"	"BBS1"
"0000388691"	"BBS10"
"0000388691"	"BBS12"
"0000388692"	"BBS1"
"0000388692"	"BBS10"
"0000388692"	"BBS12"
"0000388693"	"BBS1"
"0000388693"	"BBS10"
"0000388693"	"BBS12"
"0000388694"	"BBS1"
"0000388694"	"BBS10"
"0000388694"	"BBS12"
"0000388695"	"BBS1"
"0000388695"	"BBS10"
"0000388695"	"BBS12"
"0000388696"	"BBS1"
"0000388696"	"BBS10"
"0000388696"	"BBS12"
"0000388697"	"BBS1"
"0000388697"	"BBS10"
"0000388697"	"BBS12"
"0000388698"	"BBS1"
"0000388698"	"BBS10"
"0000388698"	"BBS12"
"0000388699"	"BBS1"
"0000388699"	"BBS10"
"0000388699"	"BBS12"
"0000388700"	"BBS1"
"0000388700"	"BBS10"
"0000388700"	"BBS12"
"0000388780"	"BBS1"
"0000388808"	"BBS1"
"0000388809"	"BBS1"
"0000389266"	"BBS1"
"0000389267"	"BBS1"
"0000389272"	"BBS1"
"0000389274"	"BBS1"
"0000389276"	"BBS1"
"0000389277"	"BBS1"
"0000389278"	"BBS1"
"0000389279"	"BBS1"
"0000389280"	"BBS1"
"0000389384"	"BBS1"
"0000389768"	"BBS1"
"0000389796"	"BBS1"
"0000389975"	"BBS1"
"0000389976"	"BBS1"
"0000389990"	"BBS1"
"0000389991"	"BBS1"
"0000390011"	"BBS1"
"0000390065"	"BBS1"
"0000390079"	"BBS1"
"0000390110"	"BBS1"
"0000390122"	"BBS1"
"0000390177"	"BBS1"
"0000390770"	"BBS1"
"0000390838"	"BBS1"
"0000390978"	"BBS1"
"0000391171"	"BBS1"
"0000391196"	"BBS1"
"0000391201"	"BBS1"
"0000391210"	"BBS1"
"0000391281"	"BBS1"
"0000391410"	"BBS1"
"0000391411"	"BBS1"
"0000391412"	"BBS1"
"0000391413"	"BBS1"
"0000392815"	"BBS1"
"0000395214"	"BBS1"
"0000395606"	"BBS1"
"0000396824"	"BBS1"
"0000396841"	"BBS1"
"0000396842"	"BBS1"
"0000396848"	"BBS1"
"0000396856"	"BBS1"
"0000397713"	"BBS1"
"0000397782"	"BBS1"
"0000397784"	"BBS1"
"0000397786"	"BBS1"
"0000397788"	"BBS1"
"0000397790"	"BBS1"
"0000397792"	"BBS1"
"0000397794"	"BBS1"
"0000397796"	"BBS1"
"0000397798"	"BBS1"
"0000397800"	"BBS1"
"0000397802"	"BBS1"
"0000397804"	"BBS1"
"0000397806"	"BBS1"
"0000399046"	"COL6A2"
"0000405508"	"BBS1"
"0000409608"	"BBS1"
"0000409609"	"BBS1"
"0000409610"	"BBS1"
"0000409611"	"BBS1"
"0000409612"	"BBS1"
"0000409613"	"BBS1"
"0000409614"	"USH2A"
"0000409615"	"USH2A"
"0000409616"	"USH2A"
"0000409617"	"USH2A"
"0000409618"	"USH2A"
"0000413743"	"BBS1"
"0000413744"	"BBS1"
"0000413745"	"BBS1"
"0000413746"	"BBS1"
"0000413747"	"BBS1"
"0000413748"	"BBS1"
"0000413749"	"BBS1"
"0000413750"	"BBS1"
"0000413751"	"BBS1"
"0000413752"	"BBS1"
"0000413753"	"BBS1"
"0000413754"	"BBS1"
"0000413755"	"BBS1"
"0000413756"	"BBS1"
"0000413757"	"BBS1"
"0000415622"	"BBS1"
"0000418813"	"BBS1"
"0000418814"	"BBS1"
"0000419792"	"BBS5"
"0000419793"	"BBS5"
"0000419934"	"BBS1"
"0000419944"	"BBS1"
"0000419945"	"BBS1"
"0000419946"	"BBS1"
"0000419947"	"BBS1"
"0000419948"	"BBS1"
"0000419949"	"BBS1"
"0000428265"	"BBS1"
"0000431033"	"BBS1"
"0000431049"	"BBS1"
"0000431322"	"BBS1"
"0000431438"	"BBS1"
"0000467039"	"OCA2"
"0000467039"	"SLC45A2"
"0000467039"	"TYR"
"0000467040"	"OCA2"
"0000467040"	"SLC45A2"
"0000467040"	"TYR"


## 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 = 751
"{{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}}"
"0000000161"	"1"	"50"	"11"	"66282095"	"66282095"	"subst"	"0.225152"	"00002"	"BBS1_000061"	"g.66282095G>A"	""	"{PMID:Almomani 2011:21102627} {dbSNP:2298806}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66514624G>A"	""	"VUS"	""
"0000000162"	"1"	"50"	"11"	"66297363"	"66297363"	"subst"	"0.204643"	"00002"	"BBS1_000062"	"g.66297363C>T"	""	"{PMID:Almomani 2011:21102627} {dbSNP:3816492}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66529892C>T"	""	"VUS"	""
"0000019485"	"0"	"55"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00102"	"BBS1_000003"	"g.66293652T>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.66526181T>G"	""	"VUS"	""
"0000019486"	"0"	"55"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00102"	"BBS1_000003"	"g.66293652T>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.66526181T>G"	""	"VUS"	""
"0000129978"	"3"	"99"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"01763"	"BBS1_000002"	"g.66293652T>G"	""	"{CV:RCV000210319.1 }, {CV:RCV000012926.24}, {CV:RCV000174408.2}, {CV:RCV000082202.4}"	""	""	""	"Germline"	""	"rs113624356"	"0"	""	""	"g.66526181T>G"	""	"pathogenic"	""
"0000141622"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00008"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Nishimura 2010:20398886}"	""	"M390R"	""	"Unknown"	""	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic"	""
"0000246980"	"0"	"30"	"11"	"66299445"	"66299445"	"subst"	"0.00054962"	"02330"	"BBS1_000094"	"g.66299445A>G"	""	""	""	"BBS1(NM_024649.4):c.1719A>G (p.Q573=), BBS1(NM_024649.5):c.1719A>G (p.Q573=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66531974A>G"	""	"likely benign"	""
"0000247014"	"0"	"50"	"11"	"66299178"	"66299178"	"subst"	"0"	"02330"	"BBS1_000091"	"g.66299178A>T"	""	""	""	"BBS1(NM_024649.5):c.1660A>T (p.S554C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66531707A>T"	""	"VUS"	""
"0000247063"	"0"	"50"	"11"	"66283346"	"66283346"	"subst"	"0"	"02330"	"BBS1_000078"	"g.66283346A>G"	""	""	""	"BBS1(NM_024649.5):c.533A>G (p.E178G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66515875A>G"	""	"VUS"	""
"0000247862"	"0"	"10"	"11"	"66299515"	"66299515"	"subst"	"0.54783"	"02325"	"BBS1_000077"	"g.66299515A>G"	""	""	""	"BBS1(NM_024649.4):c.*7A>G, BBS1(NM_024649.5):c.*7A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66532044A>G"	""	"benign"	""
"0000250644"	"0"	"10"	"11"	"66299515"	"66299515"	"subst"	"0.54783"	"02326"	"BBS1_000077"	"g.66299515A>G"	""	""	""	"BBS1(NM_024649.4):c.*7A>G, BBS1(NM_024649.5):c.*7A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66532044A>G"	""	"benign"	""
"0000252996"	"0"	"10"	"11"	"66299515"	"66299515"	"subst"	"0.54783"	"01943"	"BBS1_000077"	"g.66299515A>G"	""	""	""	"BBS1(NM_024649.4):c.*7A>G, BBS1(NM_024649.5):c.*7A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66532044A>G"	""	"benign"	""
"0000254174"	"0"	"30"	"11"	"66299445"	"66299445"	"subst"	"0.00054962"	"01943"	"BBS1_000094"	"g.66299445A>G"	""	""	""	"BBS1(NM_024649.4):c.1719A>G (p.Q573=), BBS1(NM_024649.5):c.1719A>G (p.Q573=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66531974A>G"	""	"likely benign"	""
"0000256101"	"0"	"50"	"11"	"66299208"	"66299208"	"subst"	"0"	"01943"	"BBS1_000092"	"g.66299208A>C"	""	""	""	"BBS1(NM_024649.4):c.1690A>C (p.I564L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66531737A>C"	""	"VUS"	""
"0000258580"	"0"	"10"	"11"	"66291319"	"66291319"	"subst"	"6.92402E-5"	"02330"	"BBS1_000083"	"g.66291319G>A"	""	""	""	"BBS1(NM_024649.5):c.1076G>A (p.R359H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66523848G>A"	""	"benign"	""
"0000258581"	"0"	"10"	"11"	"66293659"	"66293659"	"subst"	"0"	"02330"	"BBS1_000084"	"g.66293659T>C"	""	""	""	"BBS1(NM_024649.5):c.1176T>C (p.T392=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66526188T>C"	""	"benign"	""
"0000258582"	"0"	"70"	"11"	"66294224"	"66294224"	"subst"	"8.12262E-6"	"02330"	"BBS1_000075"	"g.66294224C>T"	""	""	""	"BBS1(NM_024649.5):c.1285C>T (p.R429*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66526753C>T"	""	"likely pathogenic"	""
"0000258584"	"0"	"10"	"11"	"66298351"	"66298351"	"subst"	"6.09315E-5"	"02330"	"BBS1_000089"	"g.66298351C>T"	""	""	""	"BBS1(NM_024649.5):c.1474-14C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66530880C>T"	""	"benign"	""
"0000258585"	"0"	"10"	"11"	"66278154"	"66278154"	"subst"	"0.00400257"	"02330"	"BBS1_000064"	"g.66278154T>C"	""	""	""	"BBS1(NM_024649.5):c.24T>C (p.D8=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66510683T>C"	""	"benign"	""
"0000258586"	"0"	"10"	"11"	"66283077"	"66283077"	"subst"	"8.12242E-6"	"02330"	"BBS1_000069"	"g.66283077T>C"	""	""	""	"BBS1(NM_024649.5):c.479+20T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66515606T>C"	""	"benign"	""
"0000258587"	"0"	"90"	"11"	"66283402"	"66283402"	"subst"	"0"	"02330"	"BBS1_000079"	"g.66283402C>T"	""	""	""	"BBS1(NM_024649.4):c.589C>T (p.Q197*), BBS1(NM_024649.5):c.589C>T (p.Q197*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66515931C>T"	""	"pathogenic"	""
"0000258588"	"0"	"50"	"11"	"66290983"	"66290983"	"subst"	"9.33965E-5"	"02330"	"BBS1_000081"	"g.66290983T>C"	""	""	""	"BBS1(NM_024649.5):c.887T>C (p.I296T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66523512T>C"	""	"VUS"	""
"0000259226"	"0"	"10"	"11"	"66288733"	"66288733"	"subst"	"0.232696"	"02325"	"BBS1_000072"	"g.66288733G>C"	""	""	""	"BBS1(NM_024649.4):c.724-8G>C, BBS1(NM_024649.5):c.724-8G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66521262G>C"	""	"benign"	""
"0000261380"	"0"	"10"	"11"	"66297299"	"66297299"	"subst"	"0.00527849"	"02326"	"BBS1_000086"	"g.66297299G>A"	""	""	""	"BBS1(NM_024649.5):c.1349G>A (p.R450Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66529828G>A"	""	"benign"	""
"0000261381"	"0"	"10"	"11"	"66297398"	"66297398"	"subst"	"2.97599E-5"	"02326"	"BBS1_000087"	"g.66297398G>A"	""	""	""	"BBS1(NM_024649.5):c.1448G>A (p.R483Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66529927G>A"	""	"benign"	""
"0000261382"	"0"	"30"	"11"	"66299223"	"66299223"	"subst"	"0.00354892"	"02326"	"BBS1_000093"	"g.66299223G>A"	""	""	""	"BBS1(NM_024649.4):c.1695+10G>A, BBS1(NM_024649.5):c.1695+10G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66531752G>A"	""	"likely benign"	""
"0000261383"	"0"	"30"	"11"	"66278149"	"66278149"	"subst"	"0"	"02326"	"BBS1_000063"	"g.66278149T>A"	""	""	""	"BBS1(NM_024649.5):c.19T>A (p.(Ser7Thr), p.S7T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66510678T>A"	""	"likely benign"	""
"0000261384"	"0"	"10"	"11"	"66278154"	"66278154"	"subst"	"0.00400257"	"02326"	"BBS1_000064"	"g.66278154T>C"	""	""	""	"BBS1(NM_024649.5):c.24T>C (p.D8=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66510683T>C"	""	"benign"	""
"0000261385"	"0"	"10"	"11"	"66282033"	"66282033"	"subst"	"0.000125915"	"02326"	"BBS1_000065"	"g.66282033C>G"	""	""	""	"BBS1(NM_024649.4):c.316C>G (p.L106V), BBS1(NM_024649.5):c.316C>G (p.L106V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66514562C>G"	""	"benign"	""
"0000261386"	"0"	"90"	"11"	"66282080"	"66282080"	"subst"	"0"	"02326"	"BBS1_000067"	"g.66282080C>A"	""	""	""	"BBS1(NM_024649.5):c.363C>A (p.Y121*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66514609C>A"	""	"pathogenic"	""
"0000261387"	"0"	"30"	"11"	"66283413"	"66283413"	"subst"	"0"	"02326"	"BBS1_000080"	"g.66283413C>G"	""	""	""	"BBS1(NM_024649.5):c.591+9C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66515942C>G"	""	"likely benign"	""
"0000261388"	"0"	"10"	"11"	"66288733"	"66288733"	"subst"	"0.232696"	"02326"	"BBS1_000072"	"g.66288733G>C"	""	""	""	"BBS1(NM_024649.4):c.724-8G>C, BBS1(NM_024649.5):c.724-8G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66521262G>C"	""	"benign"	""
"0000263549"	"0"	"30"	"11"	"66291263"	"66291263"	"subst"	"0.00110022"	"01943"	"BBS1_000082"	"g.66291263C>G"	""	""	""	"BBS1(NM_024649.4):c.1020C>G (p.S340=), BBS1(NM_024649.5):c.1020C>G (p.S340=), ZDHHC24(NM_001348571.2):c.*22-2326G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66523792C>G"	""	"likely benign"	""
"0000263550"	"0"	"50"	"11"	"66294252"	"66294252"	"subst"	"8.5336E-5"	"01943"	"BBS1_000085"	"g.66294252C>G"	""	""	""	"BBS1(NM_024649.4):c.1313C>G (p.T438R, p.(Thr438Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66526781C>G"	""	"VUS"	""
"0000263551"	"0"	"10"	"11"	"66297363"	"66297363"	"subst"	"0.204643"	"01943"	"BBS1_000062"	"g.66297363C>T"	""	""	""	"BBS1(NM_024649.4):c.1413C>T (p.L471=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66529892C>T"	""	"benign"	""
"0000263552"	"0"	"30"	"11"	"66298476"	"66298476"	"subst"	"1.21821E-5"	"01943"	"BBS1_000090"	"g.66298476T>G"	""	""	""	"BBS1(NM_024649.4):c.1585T>G (p.S529A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66531005T>G"	""	"likely benign"	""
"0000263553"	"0"	"30"	"11"	"66282077"	"66282077"	"subst"	"0.000166739"	"01943"	"BBS1_000066"	"g.66282077C>T"	""	""	""	"BBS1(NM_024649.4):c.360C>T (p.P120=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66514606C>T"	""	"likely benign"	""
"0000263554"	"0"	"10"	"11"	"66288733"	"66288733"	"subst"	"0.232696"	"01943"	"BBS1_000072"	"g.66288733G>C"	""	""	""	"BBS1(NM_024649.4):c.724-8G>C, BBS1(NM_024649.5):c.724-8G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66521262G>C"	""	"benign"	""
"0000275498"	"0"	"10"	"11"	"66276576"	"66276576"	"subst"	"0.0732202"	"01943"	"DPP3_000006"	"g.66276576G>A"	""	""	""	"DPP3(NM_130443.3):c.2068G>A (p.E690K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66509105G>A"	""	"benign"	""
"0000322332"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"01804"	"BBS1_000001"	"g.66293652T>G"	""	""	""	"BBS1(NM_024649.4):c.1169T>G (p.M390R, p.(Met390Arg)), BBS1(NM_024649.5):c.1169T>G (p.M390R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic"	""
"0000338593"	"0"	"10"	"11"	"66288733"	"66288733"	"subst"	"0.232696"	"02327"	"BBS1_000072"	"g.66288733G>C"	""	""	""	"BBS1(NM_024649.4):c.724-8G>C, BBS1(NM_024649.5):c.724-8G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66521262G>C"	""	"benign"	""
"0000338594"	"0"	"90"	"11"	"66291048"	"66291048"	"subst"	"4.06223E-6"	"02327"	"BBS1_000073"	"g.66291048G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66523577G>A"	""	"pathogenic"	""
"0000340368"	"0"	"10"	"11"	"66282095"	"66282095"	"subst"	"0.225152"	"02327"	"BBS1_000061"	"g.66282095G>A"	""	""	""	"BBS1(NM_024649.4):c.378G>A (p.L126=), BBS1(NM_024649.5):c.378G>A (p.L126=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66514624G>A"	""	"benign"	""
"0000340369"	"0"	"10"	"11"	"66297363"	"66297363"	"subst"	"0.204643"	"02327"	"BBS1_000062"	"g.66297363C>T"	""	""	""	"BBS1(NM_024649.4):c.1413C>T (p.L471=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66529892C>T"	""	"benign"	""
"0000340934"	"0"	"30"	"11"	"66281960"	"66281960"	"subst"	"8.53055E-5"	"02327"	"BBS1_000070"	"g.66281960G>A"	""	""	""	"BBS1(NM_024649.5):c.243G>A (p.P81=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66514489G>A"	""	"likely benign"	""
"0000342974"	"0"	"90"	"11"	"66297397"	"66297397"	"subst"	"0"	"02327"	"BBS1_000076"	"g.66297397C>T"	""	""	""	"BBS1(NM_024649.5):c.1447C>T (p.(Arg483Ter), p.R483*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66529926C>T"	""	"pathogenic"	""
"0000347830"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"02327"	"BBS1_000001"	"g.66293652T>G"	""	""	""	"BBS1(NM_024649.4):c.1169T>G (p.M390R, p.(Met390Arg)), BBS1(NM_024649.5):c.1169T>G (p.M390R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic"	""
"0000349897"	"0"	"90"	"11"	"66282080"	"66282080"	"subst"	"0"	"02327"	"BBS1_000067"	"g.66282080C>A"	""	""	""	"BBS1(NM_024649.5):c.363C>A (p.Y121*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66514609C>A"	""	"pathogenic"	""
"0000358169"	"3"	"90"	"11"	"66283057"	"66283057"	"subst"	"2.84301E-5"	"01243"	"BBS1_000071"	"g.66283057G>A"	""	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66515586G>A"	""	"pathogenic"	""
"0000358170"	"3"	"90"	"11"	"66283057"	"66283057"	"subst"	"2.84301E-5"	"01243"	"BBS1_000071"	"g.66283057G>A"	""	"{PMID:Sharon 2015:26261414}, {PMID:Beryozkin 2015:26306921}, {PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66515586G>A"	""	"pathogenic (recessive)"	""
"0000358171"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"01243"	"BBS1_000001"	"g.66293652T>G"	""	"Sharon, submitted"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic"	""
"0000438861"	"21"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00006"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Tavares 2018:30484961}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic (recessive)"	""
"0000438862"	"11"	"90"	"11"	"66294153"	"66294154"	"ins"	"0"	"00006"	"BBS1_000095"	"g.66294153_66294154ins[MH395756;66294137_66294153]"	""	"{PMID:Tavares 2018:30484961}"	""	"c.1214–1215ins(1700_1800);1198_1214"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000477025"	"0"	"50"	"11"	"66278511"	"66278511"	"subst"	"4.06055E-6"	"02591"	"BBS1_000096"	"g.66278511T>A"	"7/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs772010847"	"0"	""	""	"g.66511040T>A"	""	"VUS"	""
"0000477026"	"0"	"50"	"11"	"66281880"	"66281880"	"subst"	"0.000130688"	"02591"	"BBS1_000097"	"g.66281880G>A"	"5/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs181765153"	"0"	""	""	"g.66514409G>A"	""	"VUS"	""
"0000477027"	"0"	"50"	"11"	"66282046"	"66282046"	"subst"	"1.62497E-5"	"02591"	"BBS1_000098"	"g.66282046C>A"	"2/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs750288768"	"0"	""	""	"g.66514575C>A"	""	"VUS"	""
"0000477028"	"0"	"50"	"11"	"66283015"	"66283015"	"subst"	"2.84271E-5"	"02591"	"BBS1_000099"	"g.66283015G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs759253107"	"0"	""	""	"g.66515544G>A"	""	"VUS"	""
"0000477029"	"0"	"50"	"11"	"66283050"	"66283050"	"subst"	"0"	"02591"	"BBS1_000100"	"g.66283050A>G"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66515579A>G"	""	"VUS"	""
"0000477030"	"0"	"50"	"11"	"66283377"	"66283377"	"subst"	"0"	"02591"	"BBS1_000101"	"g.66283377A>C"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66515906A>C"	""	"VUS"	""
"0000477031"	"0"	"50"	"11"	"66283379"	"66283379"	"subst"	"0"	"02591"	"BBS1_000102"	"g.66283379A>G"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs749036245"	"0"	""	""	"g.66515908A>G"	""	"VUS"	""
"0000477032"	"0"	"50"	"11"	"66283380"	"66283380"	"subst"	"2.84252E-5"	"02591"	"BBS1_000103"	"g.66283380C>G"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs768596720"	"0"	""	""	"g.66515909C>G"	""	"VUS"	""
"0000477033"	"0"	"50"	"11"	"66288802"	"66288802"	"subst"	"2.43708E-5"	"02591"	"BBS1_000104"	"g.66288802G>A"	"3/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs747282202"	"0"	""	""	"g.66521331G>A"	""	"VUS"	""
"0000477034"	"0"	"50"	"11"	"66291004"	"66291004"	"subst"	"4.06068E-5"	"02591"	"BBS1_000105"	"g.66291004T>C"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs750668484"	"0"	""	""	"g.66523533T>C"	""	"VUS"	""
"0000477035"	"0"	"50"	"11"	"66293604"	"66293604"	"subst"	"8.12156E-6"	"02591"	"BBS1_000106"	"g.66293604C>G"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs759275651"	"0"	""	""	"g.66526133C>G"	""	"VUS"	""
"0000477036"	"0"	"50"	"11"	"66297389"	"66297389"	"subst"	"3.80421E-5"	"02591"	"BBS1_000107"	"g.66297389C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs374706769"	"0"	""	""	"g.66529918C>T"	""	"VUS"	""
"0000477037"	"0"	"50"	"11"	"66297398"	"66297398"	"subst"	"2.97599E-5"	"02591"	"BBS1_000087"	"g.66297398G>A"	"4/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs779828966"	"0"	""	""	"g.66529927G>A"	""	"VUS"	""
"0000477038"	"0"	"50"	"11"	"66297421"	"66297421"	"subst"	"0"	"02591"	"BBS1_000108"	"g.66297421G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs377469172"	"0"	""	""	"g.66529950G>A"	""	"VUS"	""
"0000477039"	"0"	"50"	"11"	"66298425"	"66298425"	"subst"	"2.43635E-5"	"02591"	"BBS1_000109"	"g.66298425C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs369653969"	"0"	""	""	"g.66530954C>T"	""	"VUS"	""
"0000477040"	"0"	"50"	"11"	"66299152"	"66299152"	"subst"	"0.000178664"	"02591"	"BBS1_000110"	"g.66299152A>G"	"20/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs148948642"	"0"	""	""	"g.66531681A>G"	""	"VUS"	""
"0000545074"	"0"	"50"	"11"	"66278475"	"66278475"	"subst"	"1.62422E-5"	"02330"	"BBS1_000111"	"g.66278475C>A"	""	""	""	"BBS1(NM_024649.5):c.48-9C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66511004C>A"	""	"VUS"	""
"0000545075"	"0"	"10"	"11"	"66278493"	"66278493"	"subst"	"8.93321E-5"	"02330"	"BBS1_000112"	"g.66278493C>G"	""	""	""	"BBS1(NM_024649.5):c.57C>G (p.A19=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66511022C>G"	""	"benign"	""
"0000545076"	"0"	"50"	"11"	"66281952"	"66281952"	"subst"	"0.000755803"	"02330"	"BBS1_000113"	"g.66281952G>A"	""	""	""	"BBS1(NM_024649.4):c.235G>A (p.E79K), BBS1(NM_024649.5):c.235G>A (p.E79K, p.(Glu79Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66514481G>A"	""	"VUS"	""
"0000545077"	"0"	"50"	"11"	"66281952"	"66281952"	"subst"	"0.000755803"	"01943"	"BBS1_000113"	"g.66281952G>A"	""	""	""	"BBS1(NM_024649.4):c.235G>A (p.E79K), BBS1(NM_024649.5):c.235G>A (p.E79K, p.(Glu79Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66514481G>A"	""	"VUS"	""
"0000545078"	"0"	"50"	"11"	"66281952"	"66281952"	"subst"	"0.000755803"	"01804"	"BBS1_000113"	"g.66281952G>A"	""	""	""	"BBS1(NM_024649.4):c.235G>A (p.E79K), BBS1(NM_024649.5):c.235G>A (p.E79K, p.(Glu79Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66514481G>A"	""	"VUS"	""
"0000545079"	"0"	"30"	"11"	"66281952"	"66281952"	"subst"	"0.000755803"	"02326"	"BBS1_000113"	"g.66281952G>A"	""	""	""	"BBS1(NM_024649.4):c.235G>A (p.E79K), BBS1(NM_024649.5):c.235G>A (p.E79K, p.(Glu79Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66514481G>A"	""	"likely benign"	""
"0000545081"	"0"	"30"	"11"	"66282033"	"66282033"	"subst"	"0.000125915"	"01943"	"BBS1_000065"	"g.66282033C>G"	""	""	""	"BBS1(NM_024649.4):c.316C>G (p.L106V), BBS1(NM_024649.5):c.316C>G (p.L106V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66514562C>G"	""	"likely benign"	""
"0000545082"	"0"	"10"	"11"	"66282095"	"66282095"	"subst"	"0.225152"	"01943"	"BBS1_000061"	"g.66282095G>A"	""	""	""	"BBS1(NM_024649.4):c.378G>A (p.L126=), BBS1(NM_024649.5):c.378G>A (p.L126=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66514624G>A"	""	"benign"	""
"0000545083"	"0"	"10"	"11"	"66282095"	"66282095"	"subst"	"0.225152"	"02325"	"BBS1_000061"	"g.66282095G>A"	""	""	""	"BBS1(NM_024649.4):c.378G>A (p.L126=), BBS1(NM_024649.5):c.378G>A (p.L126=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66514624G>A"	""	"benign"	""
"0000545084"	"0"	"30"	"11"	"66283006"	"66283006"	"subst"	"0.000722878"	"01804"	"BBS1_000114"	"g.66283006C>T"	""	""	""	"BBS1(NM_024649.4):c.433-5C>T (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66515535C>T"	""	"likely benign"	""
"0000545085"	"0"	"30"	"11"	"66283008"	"66283008"	"subst"	"0"	"01804"	"BBS1_000115"	"g.66283008C>T"	""	""	""	"BBS1(NM_024649.4):c.433-3C>T (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66515537C>T"	""	"likely benign"	""
"0000545087"	"0"	"70"	"11"	"66283057"	"66283057"	"subst"	"2.84301E-5"	"01943"	"BBS1_000071"	"g.66283057G>A"	""	""	""	"BBS1(NM_024649.4):c.479G>A (p.R160Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66515586G>A"	""	"likely pathogenic"	""
"0000545088"	"0"	"30"	"11"	"66287112"	"66287112"	"subst"	"0.000499569"	"02326"	"BBS1_000117"	"g.66287112T>G"	""	""	""	"BBS1(NM_024649.5):c.616T>G (p.L206V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66519641T>G"	""	"likely benign"	""
"0000545090"	"0"	"10"	"11"	"66287196"	"66287196"	"subst"	"0.00746512"	"02330"	"BBS1_000118"	"g.66287196G>A"	""	""	""	"BBS1(NM_024649.4):c.700G>A (p.E234K, p.(Glu234Lys)), BBS1(NM_024649.5):c.700G>A (p.E234K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66519725G>A"	""	"benign"	""
"0000545091"	"0"	"50"	"11"	"66287196"	"66287196"	"subst"	"0.00746512"	"01943"	"BBS1_000118"	"g.66287196G>A"	""	""	""	"BBS1(NM_024649.4):c.700G>A (p.E234K, p.(Glu234Lys)), BBS1(NM_024649.5):c.700G>A (p.E234K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66519725G>A"	""	"VUS"	""
"0000545092"	"0"	"30"	"11"	"66287196"	"66287196"	"subst"	"0.00746512"	"01804"	"BBS1_000118"	"g.66287196G>A"	""	""	""	"BBS1(NM_024649.4):c.700G>A (p.E234K, p.(Glu234Lys)), BBS1(NM_024649.5):c.700G>A (p.E234K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66519725G>A"	""	"likely benign"	""
"0000545093"	"0"	"30"	"11"	"66287196"	"66287196"	"subst"	"0.00746512"	"02326"	"BBS1_000118"	"g.66287196G>A"	""	""	""	"BBS1(NM_024649.4):c.700G>A (p.E234K, p.(Glu234Lys)), BBS1(NM_024649.5):c.700G>A (p.E234K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66519725G>A"	""	"likely benign"	""
"0000545095"	"0"	"10"	"11"	"66288724"	"66288724"	"subst"	"4.06253E-6"	"02330"	"BBS1_000119"	"g.66288724G>T"	""	""	""	"BBS1(NM_024649.5):c.724-17G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66521253G>T"	""	"benign"	""
"0000545096"	"0"	"10"	"11"	"66288728"	"66288728"	"subst"	"4.06161E-6"	"02330"	"BBS1_000120"	"g.66288728T>G"	""	""	""	"BBS1(NM_024649.5):c.724-13T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66521257T>G"	""	"benign"	""
"0000545099"	"0"	"10"	"11"	"66288761"	"66288761"	"subst"	"5.68486E-5"	"02330"	"BBS1_000122"	"g.66288761C>T"	""	""	""	"BBS1(NM_024649.5):c.744C>T (p.P248=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66521290C>T"	""	"benign"	""
"0000545100"	"0"	"30"	"11"	"66290922"	"66290922"	"subst"	"0.000617209"	"01943"	"BBS1_000123"	"g.66290922C>T"	""	""	""	"BBS1(NM_024649.4):c.831-5C>T (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66523451C>T"	""	"likely benign"	""
"0000545101"	"0"	"30"	"11"	"66290922"	"66290922"	"subst"	"0.000617209"	"01804"	"BBS1_000123"	"g.66290922C>T"	""	""	""	"BBS1(NM_024649.4):c.831-5C>T (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66523451C>T"	""	"likely benign"	""
"0000545102"	"0"	"30"	"11"	"66291222"	"66291222"	"subst"	"0"	"01804"	"BBS1_000124"	"g.66291222C>T"	""	""	""	"BBS1(NM_024649.4):c.979C>T (p.(Pro327Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66523751C>T"	""	"likely benign"	""
"0000545103"	"0"	"50"	"11"	"66291279"	"66291279"	"subst"	"0.000965865"	"01943"	"BBS1_000125"	"g.66291279G>A"	""	""	""	"BBS1(NM_024649.4):c.1036G>A (p.V346I), BBS1(NM_024649.5):c.1036G>A (p.V346I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66523808G>A"	""	"VUS"	""
"0000545108"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"02330"	"BBS1_000001"	"g.66293652T>G"	""	""	""	"BBS1(NM_024649.4):c.1169T>G (p.M390R, p.(Met390Arg)), BBS1(NM_024649.5):c.1169T>G (p.M390R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66526181T>G"	""	"pathogenic"	""
"0000545109"	"0"	"50"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"01943"	"BBS1_000001"	"g.66293652T>G"	""	""	""	"BBS1(NM_024649.4):c.1169T>G (p.M390R, p.(Met390Arg)), BBS1(NM_024649.5):c.1169T>G (p.M390R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66526181T>G"	""	"VUS"	""
"0000545110"	"0"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"02325"	"BBS1_000001"	"g.66293652T>G"	""	""	""	"BBS1(NM_024649.4):c.1169T>G (p.M390R, p.(Met390Arg)), BBS1(NM_024649.5):c.1169T>G (p.M390R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000545111"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"02326"	"BBS1_000001"	"g.66293652T>G"	""	""	""	"BBS1(NM_024649.4):c.1169T>G (p.M390R, p.(Met390Arg)), BBS1(NM_024649.5):c.1169T>G (p.M390R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66526181T>G"	""	"pathogenic"	""
"0000545112"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"02329"	"BBS1_000001"	"g.66293652T>G"	""	""	""	"BBS1(NM_024649.4):c.1169T>G (p.M390R, p.(Met390Arg)), BBS1(NM_024649.5):c.1169T>G (p.M390R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66526181T>G"	""	"pathogenic"	""
"0000545113"	"0"	"30"	"11"	"66294249"	"66294249"	"subst"	"4.06379E-5"	"02330"	"BBS1_000129"	"g.66294249A>T"	""	""	""	"BBS1(NM_024649.5):c.1310A>T (p.Q437L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66526778A>T"	""	"likely benign"	""
"0000545114"	"0"	"30"	"11"	"66294277"	"66294277"	"subst"	"0.000407425"	"01943"	"BBS1_000130"	"g.66294277C>T"	""	""	""	"BBS1(NM_024649.4):c.1338C>T (p.T446=), BBS1(NM_024649.5):c.1338C>T (p.T446=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66526806C>T"	""	"likely benign"	""
"0000545115"	"0"	"10"	"11"	"66297291"	"66297291"	"subst"	"8.23398E-6"	"02330"	"BBS1_000131"	"g.66297291C>T"	""	""	""	"BBS1(NM_024649.5):c.1341C>T (p.A447=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66529820C>T"	""	"benign"	""
"0000545117"	"0"	"10"	"11"	"66297439"	"66297441"	"dup"	"0"	"02330"	"BBS1_000132"	"g.66297439_66297441dup"	""	""	""	"BBS1(NM_024649.5):c.1473+16_1473+18dupAGG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66529968_66529970dup"	""	"benign"	""
"0000545118"	"0"	"30"	"11"	"66298485"	"66298485"	"subst"	"4.4673E-5"	"01804"	"BBS1_000133"	"g.66298485C>T"	""	""	""	"BBS1(NM_024649.4):c.1594C>T (p.(Arg532Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66531014C>T"	""	"likely benign"	""
"0000545119"	"0"	"10"	"11"	"66299223"	"66299223"	"subst"	"0.00354892"	"01943"	"BBS1_000093"	"g.66299223G>A"	""	""	""	"BBS1(NM_024649.4):c.1695+10G>A, BBS1(NM_024649.5):c.1695+10G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66531752G>A"	""	"benign"	""
"0000604351"	"21"	"90"	"11"	"66294224"	"66294224"	"subst"	"8.12262E-6"	"03508"	"BBS1_000075"	"g.66294224C>T"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.66526753C>T"	""	"pathogenic (recessive)"	""
"0000604352"	"10"	"90"	"11"	"66291004"	"66291004"	"del"	"0"	"03508"	"BBS1_000134"	"g.66291004del"	""	""	""	"908delT"	""	"Unknown"	"?"	""	"0"	""	""	"g.66523533del"	""	"pathogenic (recessive)"	""
"0000613581"	"0"	"90"	"11"	"66283163"	"66283163"	"subst"	"0"	"02330"	"BBS1_000135"	"g.66283163G>C"	""	""	""	"BBS1(NM_024649.5):c.480-1G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66515692G>C"	""	"pathogenic"	""
"0000613582"	"0"	"90"	"11"	"66283402"	"66283402"	"subst"	"0"	"01943"	"BBS1_000079"	"g.66283402C>T"	""	""	""	"BBS1(NM_024649.4):c.589C>T (p.Q197*), BBS1(NM_024649.5):c.589C>T (p.Q197*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66515931C>T"	""	"pathogenic"	""
"0000613583"	"0"	"30"	"11"	"66288725"	"66288725"	"subst"	"0.000406299"	"02330"	"BBS1_000136"	"g.66288725C>T"	""	""	""	"BBS1(NM_024649.5):c.724-16C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66521254C>T"	""	"likely benign"	""
"0000613584"	"0"	"30"	"11"	"66291278"	"66291278"	"subst"	"2.03706E-5"	"02330"	"BBS1_000137"	"g.66291278C>T"	""	""	""	"BBS1(NM_024649.5):c.1035C>T (p.A345=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66523807C>T"	""	"likely benign"	""
"0000613585"	"0"	"30"	"11"	"66297363"	"66297363"	"subst"	"8.3531E-6"	"01943"	"BBS1_000138"	"g.66297363C>A"	""	""	""	"BBS1(NM_024649.4):c.1413C>A (p.L471=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66529892C>A"	""	"likely benign"	""
"0000613586"	"0"	"50"	"11"	"66299137"	"66299137"	"subst"	"0"	"02327"	"BBS1_000139"	"g.66299137T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66531666T>C"	""	"VUS"	""
"0000648338"	"1"	"50"	"11"	"66287166"	"66287166"	"subst"	"4.06448E-6"	"03575"	"BBS1_000140"	"g.66287166G>A"	"1/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs193922709}"	"Germline"	""	"rs193922709"	"0"	""	""	"g.66519695G>A"	""	"VUS"	""
"0000648339"	"1"	"30"	"11"	"66287196"	"66287196"	"subst"	"0.00746512"	"03575"	"BBS1_000118"	"g.66287196G>A"	"4/2793 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"4 heterozygous, no homozygous; {DB:CLININrs35520756}"	"Germline"	""	"rs35520756"	"0"	""	""	"g.66519725G>A"	""	"likely benign"	""
"0000656863"	"0"	"50"	"11"	"66283056"	"66283056"	"subst"	"6.4981E-5"	"02327"	"BBS1_000141"	"g.66283056C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66515585C>T"	""	"VUS"	""
"0000656865"	"0"	"90"	"11"	"66294179"	"66294179"	"subst"	"0"	"02330"	"BBS1_000142"	"g.66294179G>T"	""	""	""	"BBS1(NM_024649.5):c.1240G>T (p.E414*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66526708G>T"	""	"pathogenic"	""
"0000684493"	"1"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00004"	"BBS1_000001"	"g.66293652T>G"	"2/899 cases"	"{PMID:Holtan 2020:31429209}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000684655"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00004"	"BBS1_000001"	"g.66293652T>G"	"4/899 cases"	"{PMID:Holtan 2020:31429209}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic (recessive)"	""
"0000685009"	"0"	"90"	"11"	"66283057"	"66283057"	"subst"	"2.84301E-5"	"00004"	"BBS1_000071"	"g.66283057G>A"	"2/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685010"	"0"	"90"	"11"	"66288784"	"66288784"	"del"	"0"	"00004"	"BBS1_000143"	"g.66288784del"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	"c.767delA"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685011"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00004"	"BBS1_000001"	"g.66293652T>G"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685012"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00004"	"BBS1_000001"	"g.66293652T>G"	"2/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000712560"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"03980"	"BBS1_000001"	"g.66293652T>G"	"0.001512"	"Doucette 2021, submitted"	""	""	"Compound heterozygous with c.1040del"	"Germline"	"yes"	"rs113624356"	""	""	""	""	""	"pathogenic (recessive)"	""
"0000712562"	"0"	"90"	"11"	"66291283"	"66291283"	"del"	"0"	"03980"	"BBS1_000144"	"g.66291283del"	""	"Doucette 2021, submitted"	""	""	""	"Germline"	"yes"	""	""	""	""	""	""	"pathogenic (recessive)"	""
"0000712563"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"03980"	"BBS1_000001"	"g.66293652T>G"	"0.0015"	"Doucette 2021, submitted"	""	""	""	"Germline"	"yes"	"rs113624356"	""	""	""	""	""	"pathogenic (recessive)"	""
"0000712564"	"0"	"90"	"11"	"66291283"	"66291283"	"del"	"0"	"03980"	"BBS1_000144"	"g.66291283del"	""	"Doucette 2021, submitted"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.66523812del"	""	"pathogenic (recessive)"	""
"0000713268"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Carss 2017:28041643}"	""	"11:66293652T>G ENST00000318312.7:c.1169T>G (Met390Arg)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713279"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Carss 2017:28041643}"	""	"11:66293652T>G ENST00000318312.7:c.1169T>G (Met390Arg)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713301"	"3"	"90"	"11"	"66283057"	"66283057"	"subst"	"2.84301E-5"	"00000"	"BBS1_000071"	"g.66283057G>A"	""	"{PMID:Carss 2017:28041643}"	""	"11:66283057G>A ENST00000318312.7:c.479G>A (Arg160Gln)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713410"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Carss 2017:28041643}"	""	"11:66293652T>G ENST00000318312.7:c.1169T>G (Met390Arg)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713421"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Carss 2017:28041643}"	""	"11:66293652T>G ENST00000318312.7:c.1169T>G (Met390Arg)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713527"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Carss 2017:28041643}"	""	"11:66293652T>G ENST00000318312.7:c.1169T>G (Met390Arg)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713555"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Carss 2017:28041643}"	""	"11:66293652T>G ENST00000318312.7:c.1169T>G (Met390Arg)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713767"	"0"	"90"	"11"	"66299438"	"66299438"	"del"	"0"	"00000"	"BBS1_000147"	"g.66299438del"	""	"{PMID:Carss 2017:28041643}"	""	"11:66299437GA>G ENST00000318312.7:c.1713delA (Gly572AlafsTer7)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000714055"	"3"	"70"	"11"	"66291353"	"66291353"	"subst"	"8.17728E-6"	"00000"	"BBS1_000145"	"g.66291353G>A"	""	"{PMID:Taylor 2017:28341476}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66523882G>A"	""	"likely pathogenic (recessive)"	""
"0000714077"	"3"	"70"	"11"	"66294278"	"66294278"	"subst"	"3.667E-5"	"00000"	"BBS1_000146"	"g.66294278G>A"	""	"{PMID:Taylor 2017:28341476}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66526807G>A"	""	"likely pathogenic (recessive)"	""
"0000723601"	"0"	"70"	"11"	"66283014"	"66283014"	"subst"	"8.12222E-6"	"02330"	"BBS1_000116"	"g.66283014C>T"	""	""	""	"BBS1(NM_024649.5):c.436C>T (p.R146*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000723602"	"0"	"50"	"11"	"66288759"	"66288759"	"subst"	"8.12137E-6"	"02330"	"BBS1_000121"	"g.66288759C>A"	""	""	""	"BBS1(NM_024649.4):c.742C>A (p.P248T), BBS1(NM_024649.5):c.742C>A (p.P248T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000723603"	"0"	"50"	"11"	"66288759"	"66288759"	"subst"	"8.12137E-6"	"01943"	"BBS1_000121"	"g.66288759C>A"	""	""	""	"BBS1(NM_024649.4):c.742C>A (p.P248T), BBS1(NM_024649.5):c.742C>A (p.P248T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000723604"	"0"	"50"	"11"	"66288768"	"66288768"	"subst"	"8.1211E-6"	"01943"	"BBS1_000148"	"g.66288768C>G"	""	""	""	"BBS1(NM_024649.4):c.751C>G (p.L251V), BBS1(NM_024649.5):c.751C>G (p.(Leu251Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000723605"	"0"	"90"	"11"	"66290967"	"66290967"	"subst"	"0"	"01943"	"BBS1_000149"	"g.66290967C>T"	""	""	""	"BBS1(NM_024649.4):c.871C>T (p.Q291*, p.(Gln291*))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000723606"	"0"	"90"	"11"	"66293614"	"66293618"	"del"	"0"	"01943"	"BBS1_000074"	"g.66293614_66293618del"	""	""	""	"BBS1(NM_024649.4):c.1131_1135delCTTTG (p.C377Wfs*36)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000723608"	"0"	"30"	"11"	"66299502"	"66299502"	"subst"	"0"	"01943"	"BBS1_000151"	"g.66299502C>T"	""	""	""	"BBS1(NM_024649.4):c.1776C>T (p.A592=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000730340"	"1"	"90"	"11"	"66299163"	"66299163"	"subst"	"1.62423E-5"	"00000"	"BBS1_000150"	"g.66299163G>T"	""	"{PMID:Sanchez-Navarro 2018:29588463}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66531692G>T"	""	"pathogenic (recessive)"	""
"0000730360"	"2"	"90"	"11"	"66278554"	"66278554"	"del"	"8.1211E-6"	"00000"	"IGHMBP2_000003"	"g.66278554del"	""	"{PMID:Sanchez-Navarro 2018:29588463}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66511083del"	""	"pathogenic (recessive)"	""
"0000730373"	"0"	"50"	"11"	"68705674"	"68705674"	"subst"	"0.263666"	"00002"	"IGHMBP2_000003"	"g.68705674C>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.68938206C>A"	""	"VUS"	""
"0000731039"	"0"	"50"	"11"	"66297346"	"66297346"	"subst"	"0"	"00000"	"BBS1_000152"	"g.66297346G>A"	""	"{PMID:Bryant 2018:29343940}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66529875G>A"	""	"VUS"	""
"0000731053"	"0"	"50"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Bryant 2018:29343940}"	""	""	""	"Germline"	""	"rs113624356"	"0"	""	""	"g.66526181T>G"	""	"VUS"	""
"0000731075"	"0"	"50"	"11"	"66287196"	"66287196"	"subst"	"0.00746512"	"00000"	"BBS1_000118"	"g.66287196G>A"	""	"{PMID:Bryant 2018:29343940}"	""	""	""	"Germline"	""	"rs35520756"	"0"	""	""	"g.66519725G>A"	""	"VUS"	""
"0000732553"	"3"	"50"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Wang 2017:28838317}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66526181T>G"	""	"VUS"	""
"0000733042"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000733043"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000733044"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000733126"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000733127"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000733155"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000733304"	"1"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000733305"	"1"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000733306"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000733307"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000733308"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000733309"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000733310"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000733311"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000733312"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000733313"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000733314"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000733315"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000733316"	"1"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000733703"	"2"	"70"	"11"	"66299434"	"66299434"	"subst"	"0"	"00000"	"BBS1_000155"	"g.66299434C>T"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66531963C>T"	""	"likely pathogenic"	""
"0000733704"	"2"	"70"	"11"	"66281940"	"66281941"	"del"	"0"	"00000"	"BBS1_000153"	"g.66281940_66281941del"	""	"{PMID:Stone 2017:28559085}"	""	"223_224delCT"	""	"Germline"	""	""	"0"	""	""	"g.66514469_66514470del"	""	"likely pathogenic"	""
"0000733705"	"2"	"70"	"11"	"66287095"	"66287100"	"del"	"0"	"00000"	"BBS1_000154"	"g.66287095_66287100del"	""	"{PMID:Stone 2017:28559085}"	""	"597_602delCATCAC"	""	"Germline"	""	""	"0"	""	""	"g.66519624_66519629del"	""	"likely pathogenic"	""
"0000735587"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Haer-Wigman 2017:28224992}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic"	""
"0000735588"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Haer-Wigman 2017:28224992}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic"	""
"0000735589"	"1"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Haer-Wigman 2017:28224992}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic"	""
"0000735714"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Haer-Wigman 2017:28224992}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic"	""
"0000735715"	"0"	"90"	"11"	"66297355"	"66297355"	"subst"	"0"	"00000"	"BBS1_000156"	"g.66297355C>T"	""	"{PMID:Haer-Wigman 2017:28224992}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66529884C>T"	""	"pathogenic"	""
"0000735716"	"2"	"90"	"11"	"66298444"	"66298444"	"subst"	"1.21818E-5"	"00000"	"BBS1_000157"	"g.66298444T>C"	""	"{PMID:Haer-Wigman 2017:28224992}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66530973T>C"	""	"pathogenic"	""
"0000759580"	"1"	"90"	"11"	"66298405"	"66298406"	"del"	"4.06058E-6"	"00000"	"BBS1_000161"	"g.66298405_66298406del"	""	"{PMID:Carrigan 2016:27624628}"	""	"1514_1515delTG"	""	"Germline"	""	""	"0"	""	""	"g.66530934_66530935del"	""	"pathogenic"	""
"0000759612"	"2"	"90"	"11"	"0"	"0"	""	"0"	"00000"	"DRD4_000002"	"g.?"	""	"{PMID:Carrigan 2016:27624628}"	""	"p.Met390Arg"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000759690"	"1"	"90"	"11"	"66288383"	"66293648"	"del"	"0"	"00000"	"BBS1_000158"	"g.66288383_66293648del"	""	"{PMID:Lindstrand 2016:27486776}"	""	"del exon9_12 66288383-66293649del"	"5,266 bp deletion, 1 bp microhomology (T)"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000759691"	"11"	"90"	"11"	"66274840"	"66292574"	"del"	"0"	"00000"	"DPP3_000008"	"g.66274840_66292574del"	""	"{PMID:Lindstrand 2016:27486776}"	""	"del exon1_11"	"17,734 bp deletion, AluY - AluY"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000759692"	"21"	"90"	"11"	"66290130"	"66305022"	"del"	"0"	"00000"	"BBS1_000160"	"g.66290130_66305022del"	""	"{PMID:Lindstrand 2016:27486776}"	""	"del exon10_17"	"14,892 bp deletion"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000759693"	"1"	"90"	"11"	"66296371"	"66304264"	"del"	"0"	"00000"	"BBS1_000159"	"g.66296371_66304264del"	""	"{PMID:Lindstrand 2016:27486776}"	""	"del exon14_17 66296361-66304267del"	"7,906 bp deletion, AluSp - AluSp"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000759706"	"2"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Lindstrand 2016:27486776}"	""	""	""	"Germline"	""	"rs113624356"	"0"	""	""	"g.66526181T>G"	""	"pathogenic"	""
"0000759711"	"21"	"90"	"11"	"66299163"	"66299163"	"subst"	"1.62423E-5"	"00000"	"BBS1_000150"	"g.66299163G>T"	""	"{PMID:Lindstrand 2016:27486776}"	""	""	""	"Germline"	""	"rs121917777"	"0"	""	""	"g.66531692G>T"	""	"pathogenic"	""
"0000759713"	"11"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Lindstrand 2016:27486776}"	""	""	""	"Germline"	""	"rs113624356"	"0"	""	""	"g.66526181T>G"	""	"pathogenic"	""
"0000759715"	"2"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Lindstrand 2016:27486776}"	""	""	""	"Germline"	""	"rs113624356"	"0"	""	""	"g.66526181T>G"	""	"pathogenic"	""
"0000759792"	"3"	"90"	"11"	"66293622"	"66293622"	"subst"	"2.03044E-5"	"00000"	"BBS1_000162"	"g.66293622G>A"	""	"{PMID:Suzuki 2016:27434533}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66526151G>A"	""	"pathogenic"	""
"0000759804"	"3"	"90"	"11"	"66293622"	"66293622"	"subst"	"2.03044E-5"	"00000"	"BBS1_000162"	"g.66293622G>A"	""	"{PMID:Suzuki 2016:27434533}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66526151G>A"	""	"pathogenic"	""
"0000759971"	"0"	"50"	"11"	"66294263"	"66294263"	"subst"	"4.06838E-6"	"00000"	"BBS1_000163"	"g.66294263C>T"	""	"{PMID:Tiwari 2016:27353947}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66526792C>T"	""	"VUS"	""
"0000760047"	"0"	"50"	"11"	"66278154"	"66278154"	"subst"	"0.00400257"	"00000"	"BBS1_000064"	"g.66278154T>C"	""	"{PMID:Tiwari 2016:27353947}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66510683T>C"	""	"VUS"	""
"0000760154"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000760155"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000760156"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000760653"	"1"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Bravo-Gil 2016:27032803}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic"	""
"0000760656"	"1"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Bravo-Gil 2016:27032803}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic"	""
"0000760675"	"2"	"90"	"11"	"66298363"	"66298363"	"subst"	"0"	"00000"	"BBS1_000164"	"g.66298363A>G"	""	"{PMID:Bravo-Gil 2016:27032803}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66530892A>G"	""	"pathogenic"	""
"0000760677"	"2"	"90"	"11"	"66278554"	"66278554"	"del"	"8.1211E-6"	"00000"	"IGHMBP2_000003"	"g.66278554del"	""	"{PMID:Bravo-Gil 2016:27032803}"	""	"118delT"	""	"Germline"	""	""	"0"	""	""	"g.66511083del"	""	"pathogenic"	""
"0000763861"	"10"	"90"	"11"	"66287067"	"66287067"	"subst"	"8.12678E-6"	"04043"	"BBS1_000165"	"g.66287067A>T"	""	"{PMID:Fadaie 2022:33910932}"	""	""	"effect on splicing predicted from minigene splicing assay"	"Germline"	"yes"	""	"0"	""	""	"g.66519596A>T"	""	"pathogenic (recessive)"	""
"0000763862"	"21"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"04043"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Fadaie 2022:33910932}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000763863"	"11"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"04043"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Fadaie 2022:33910932}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic (recessive)"	""
"0000763864"	"21"	"90"	"11"	"66287067"	"66287067"	"subst"	"8.12678E-6"	"04043"	"BBS1_000165"	"g.66287067A>T"	""	"{PMID:Fadaie 2022:33910932}"	""	""	"effect on splicing predicted from minigene splicing assay"	"Germline"	"yes"	""	"0"	""	""	"g.66519596A>T"	""	"pathogenic (recessive)"	""
"0000763865"	"21"	"90"	"11"	"66287067"	"66287067"	"subst"	"8.12678E-6"	"04043"	"BBS1_000165"	"g.66287067A>T"	""	"{PMID:Fadaie 2022:33910932}"	""	""	"effect on splicing predicted from minigene splicing assay"	"Germline"	"yes"	""	"0"	""	""	"g.66519596A>T"	""	"pathogenic (recessive)"	""
"0000763866"	"11"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"04043"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Fadaie 2022:33910932}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic (recessive)"	""
"0000763867"	"10"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"04043"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Fadaie 2022:33910932}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic (recessive)"	""
"0000763868"	"21"	"90"	"11"	"66287067"	"66287067"	"subst"	"8.12678E-6"	"04043"	"BBS1_000165"	"g.66287067A>T"	""	"{PMID:Fadaie 2022:33910932}"	""	""	"effect on splicing predicted from minigene splicing assay"	"Germline"	"yes"	""	"0"	""	""	"g.66519596A>T"	""	"pathogenic (recessive)"	""
"0000765529"	"3"	"90"	"11"	"66278481"	"66278481"	"subst"	"0"	"00000"	"BBS1_000166"	"g.66278481C>G"	""	"{PMID:Ece Solmaz 2015:26518167}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66511010C>G"	""	"pathogenic (recessive)"	""
"0000765530"	"3"	"90"	"11"	"66290947"	"66290947"	"del"	"8.1211E-6"	"00000"	"BBS1_000167"	"g.66290947del"	""	"{PMID:Ece Solmaz 2015:26518167}"	""	"851delA"	""	"Germline"	""	""	"0"	""	""	"g.66523476del"	""	"pathogenic (recessive)"	""
"0000765532"	"3"	"90"	"11"	"66291255"	"66291255"	"subst"	"0"	"00000"	"BBS1_000168"	"g.66291255C>T"	""	"{PMID:Ece Solmaz 2015:26518167}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66523784C>T"	""	"pathogenic (recessive)"	""
"0000785394"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Van Huet 2015:25999674}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic (recessive)"	""
"0000786321"	"1"	"90"	"11"	"66293652"	"66293652"	"subst"	"0"	"00006"	"BBS1_000169"	"g.66293652T>C"	""	"{PMID:Méndez-Vidal 2014:25494902}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000786322"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0"	"00006"	"BBS1_000169"	"g.66293652T>C"	""	"{PMID:Méndez-Vidal 2014:25494902}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000786349"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Zhao 2015:25472526}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic"	""
"0000786407"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Consugar 2015:25412400}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic (recessive)"	""
"0000786463"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Consugar 2015:25412400}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic (recessive)"	""
"0000787743"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Sanchez-Alcudia 2014:25342620}"	""	"M390R"	""	"Germline"	""	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic"	""
"0000788329"	"0"	"50"	"11"	"66282046"	"66282046"	"subst"	"1.62497E-5"	"00000"	"BBS1_000098"	"g.66282046C>A"	""	"{PMID:Katagiri 2014:25268133}"	""	"C329A"	""	"Germline"	""	""	"0"	""	""	"g.66514575C>A"	""	"VUS"	""
"0000790454"	"3"	"50"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	"rs113624356"	"0"	""	""	"g.66526181T>G"	""	"VUS"	""
"0000793690"	"3"	"90"	"11"	"66278483"	"66278483"	"subst"	"4.06058E-6"	"00000"	"BBS1_000171"	"g.66278483G>A"	"0/90 ethnically matched controls"	"{PMID:Harville-2010:19797195}"	""	"IVS1-1g/a"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000793691"	"3"	"90"	"11"	"66278561"	"66278561"	"subst"	"0"	"00000"	"BBS1_000172"	"g.66278561G>A"	"0/90 ethnically matched controls"	"{PMID:Harville-2010:19797195}"	""	"IVS2+1g/a"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000793692"	"3"	"90"	"11"	"66278561"	"66278561"	"subst"	"0"	"00000"	"BBS1_000172"	"g.66278561G>A"	"0/90 ethnically matched controls"	"{PMID:Harville-2010:19797195}"	""	"IVS2+1g/a"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000793693"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	"0/90 ethnically matched controls"	"{PMID:Harville-2010:19797195}"	""	"1169T/G (M390R)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000793694"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	"0/90 ethnically matched controls"	"{PMID:Harville-2010:19797195}"	""	"1169T/G (M390R)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000793695"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	"0/90 ethnically matched controls"	"{PMID:Harville-2010:19797195}"	""	"1169T/G (M390R)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000793696"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	"0/90 ethnically matched controls"	"{PMID:Harville-2010:19797195}"	""	"1169T/G (M390R)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000793952"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:O\'Sullivan-2012:22581970}"	""	"c.[1169T>G]+[1169T>G]"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000793965"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:O\'Sullivan-2012:22581970}"	""	"c.[1169T>G]+[1169T>G]"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000794088"	"0"	"70"	"11"	"66278710"	"66278710"	"subst"	"0"	"03508"	"BBS1_000170"	"g.66278710G>C"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	""
"0000794832"	"3"	"70"	"11"	"66294159"	"66294159"	"subst"	"4.06078E-6"	"00000"	"BBS1_000175"	"g.66294159T>G"	""	"{PMID:Ezquerra-Inchausti 2018:30337596}"	""	"NM_024649, c.1220T>G, p.Met390Arg"	""	"Germline"	"yes"	""	"0"	""	""	"g.66526688T>G"	""	"likely pathogenic"	""
"0000794886"	"0"	"70"	"11"	"66290926"	"66293664"	"del"	"0"	"03508"	"BBS1_000174"	"g.(66288848_66290926)_(66293664_66294119)del"	""	""	""	"831-?_1180+?del"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.(66521377_66523455)_(66526193_66526648)del"	""	"pathogenic"	""
"0000795047"	"3"	"90"	"11"	"66278169"	"66278169"	"del"	"0"	"00000"	"BBS1_000173"	"g.66278169del"	""	"{PMID:M\'hamdi 2014:23432027}"	""	"c.39delA"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000795049"	"3"	"90"	"11"	"66278169"	"66278169"	"del"	"0"	"00000"	"BBS1_000173"	"g.66278169del"	""	"{PMID:M\'hamdi 2014:23432027}"	""	"c.39delA"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796269"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Wang-2013:23847139}"	""	"c.1169T>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796877"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Wang-2014:24154662}"	""	"c.1169T>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796878"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Wang-2014:24154662}"	""	"c.1169T>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000797516"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"BBS1 c.1169T>G, p.(Met390Arg), c.1473+4A>G, p.(?)"	""	"Germline"	"?"	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic"	"ACMG"
"0000797517"	"0"	"70"	"11"	"66297427"	"66297427"	"subst"	"0"	"00000"	"DRD4_000002"	"g.66297427A>G"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"BBS1 c.1169T>G, p.(Met390Arg), c.1473+4A>G, p.(?)"	""	"Germline"	"?"	""	"0"	""	""	"g.66529956A>G"	""	"likely pathogenic"	"ACMG"
"0000797518"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"BBS1 c.1169T>G, p.(Met390Arg), c.1169T>G, p.(Met390Arg)"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic"	"ACMG"
"0000797519"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"BBS1 c.1169T>G, p.(Met390Arg), c.1110+3G>C, p.(?)"	""	"Germline"	"?"	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic"	"ACMG"
"0000797520"	"0"	"70"	"11"	"66291356"	"66291356"	"subst"	"0"	"00000"	"BBS1_000177"	"g.66291356G>C"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"BBS1 c.1169T>G, p.(Met390Arg), c.1110+3G>C, p.(?)"	""	"Germline"	"?"	""	"0"	""	""	"g.66523885G>C"	""	"likely pathogenic"	"ACMG"
"0000797932"	"3"	"50"	"11"	"66299178"	"66299178"	"subst"	"0"	"00000"	"BBS1_000091"	"g.66299178A>T"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"BBS1 c.1660A>T, p.(Ser554Cys), c.1660A>T, p.(Ser554Cys)"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.66531707A>T"	""	"VUS"	"ACMG"
"0000797933"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"BBS1 c.1169T>G, p.(Met390Arg)"	"single heterozygous variant (recessive)"	"Germline"	"?"	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic"	"ACMG"
"0000797934"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"BBS1 c.1169T>G, p.(Met390Arg)"	"single heterozygous variant (recessive)"	"Germline"	"?"	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic"	"ACMG"
"0000797935"	"0"	"70"	"11"	"66291356"	"66291356"	"subst"	"0"	"00000"	"BBS1_000177"	"g.66291356G>C"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"BBS1 c.1110+3G>C, p.(?)"	"single heterozygous variant (recessive)"	"Germline"	"?"	""	"0"	""	""	"g.66523885G>C"	""	"likely pathogenic"	"ACMG"
"0000797936"	"0"	"70"	"11"	"66291356"	"66291356"	"subst"	"0"	"00000"	"BBS1_000177"	"g.66291356G>C"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"BBS1 c.1110+3G>C, p.(?)"	"single heterozygous variant (recessive)"	"Germline"	"?"	""	"0"	""	""	"g.66523885G>C"	""	"likely pathogenic"	"ACMG"
"0000798078"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"RPE65 c.130C>T, p.(Arg44*), BBS1 c.1169T>G, p.(Met390Arg)"	"single heterozygous variant (recessive)"	"Germline"	"?"	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic"	"ACMG"
"0000805284"	"0"	"70"	"11"	"66278177"	"66278177"	"subst"	"0"	"02326"	"BBS1_000178"	"g.66278177G>C"	""	""	""	"BBS1(NM_024649.5):c.47G>C (p.S16T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000805285"	"0"	"10"	"11"	"66291263"	"66291263"	"subst"	"0.00110022"	"02330"	"BBS1_000082"	"g.66291263C>G"	""	""	""	"BBS1(NM_024649.4):c.1020C>G (p.S340=), BBS1(NM_024649.5):c.1020C>G (p.S340=), ZDHHC24(NM_001348571.2):c.*22-2326G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000805286"	"0"	"30"	"11"	"66291302"	"66291302"	"subst"	"0.000122144"	"02330"	"BBS1_000179"	"g.66291302A>G"	""	""	""	"BBS1(NM_024649.5):c.1059A>G (p.G353=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000805287"	"0"	"90"	"11"	"66293660"	"66293660"	"subst"	"0"	"01943"	"BBS1_000180"	"g.66293660C>T"	""	""	""	"BBS1(NM_024649.4):c.1177C>T (p.R393*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000805288"	"0"	"90"	"11"	"66294224"	"66294224"	"subst"	"8.12262E-6"	"02326"	"BBS1_000075"	"g.66294224C>T"	""	""	""	"BBS1(NM_024649.5):c.1285C>T (p.R429*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000805289"	"0"	"30"	"11"	"66299469"	"66299469"	"subst"	"0"	"01943"	"BBS1_000181"	"g.66299469C>T"	""	""	""	"BBS1(NM_024649.4):c.1743C>T (p.H581=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000810850"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	"<0.01"	"{PMID:Anasagasti-2013:24416769}"	""	"p.Met390Arg"	""	"Germline"	"yes"	"rs113624356"	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000810884"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	"<0.01"	"{PMID:Anasagasti-2013:24416769}"	""	"Met390Arg"	""	"Germline"	"yes"	"rs113624356"	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000810940"	"3"	"50"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Hichri-2005:15770229}"	""	"c.1169T>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000810941"	"3"	"50"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Hichri-2005:15770229}"	""	"c.1169T>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000810942"	"0"	"50"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Hichri-2005:15770229}"	""	"c.1169T>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000810943"	"0"	"50"	"11"	"66299163"	"66299163"	"subst"	"1.62423E-5"	"00000"	"BBS1_000150"	"g.66299163G>T"	""	"{PMID:Hichri-2005:15770229}"	""	"c.1645G>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000810944"	"0"	"50"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Hichri-2005:15770229}"	""	"c.1169T>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000810945"	"0"	"50"	"11"	"66293633"	"66293633"	"subst"	"0"	"00000"	"BBS1_000182"	"g.66293633G>T"	""	"{PMID:Hichri-2005:15770229}"	""	"c.1150G>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000810946"	"0"	"50"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Hichri-2005:15770229}"	""	"c.1169T>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000810947"	"0"	"50"	"11"	"66283057"	"66283057"	"subst"	"2.84301E-5"	"00000"	"BBS1_000071"	"g.66283057G>A"	""	"{PMID:Hichri-2005:15770229}"	""	"c.479G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000810948"	"0"	"50"	"11"	"66294224"	"66294224"	"subst"	"8.12262E-6"	"00000"	"BBS1_000075"	"g.66294224C>T"	""	"{PMID:Hichri-2005:15770229}"	""	"c.1285C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000810981"	"3"	"70"	"11"	"66297288"	"66297288"	"subst"	"0"	"00000"	"BBS1_000183"	"g.66297288A>G"	""	"{PMID:Sathya Priya-2015:24400638}"	""	"c.1340-2A>G"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000810986"	"3"	"50"	"11"	"66299213"	"66299213"	"subst"	"0"	"00000"	"BBS1_000184"	"g.66299213G>A"	""	"{PMID:Sathya Priya-2015:24400638}"	""	"c.1695G>A"	""	"Germline"	"no"	""	"0"	""	""	""	""	"VUS"	""
"0000811039"	"0"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Gerth-2008:17980398}"	""	"M390R/N524del†"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000811040"	"0"	"70"	"11"	"66298461"	"66298463"	"del"	"0"	"00000"	"DRD4_000002"	"g.66298461_66298463del"	""	"{PMID:Gerth-2008:17980398}"	""	"M390R/N524del†"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000811045"	"0"	"70"	"11"	"66278154"	"66278154"	"subst"	"0.00400257"	"00000"	"BBS1_000064"	"g.66278154T>C"	""	"{PMID:Gerth-2008:17980398}"	""	"D8D/R483X"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000811046"	"0"	"70"	"11"	"0"	"0"	""	"0"	"00000"	"DRD4_000002"	"g.?"	""	"{PMID:Gerth-2008:17980398}"	""	"D8D/R483X"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000811047"	"3"	"70"	"11"	"66278131"	"66278131"	"subst"	"4.06805E-6"	"00000"	"BBS1_000188"	"g.66278131A>G"	""	"{PMID:Gerth-2008:17980398}"	""	"M1V"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000811048"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Gerth-2008:17980398}"	""	"M390R"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000811070"	"3"	"70"	"11"	"0"	"0"	""	"0"	"00000"	"DRD4_000002"	"g.?"	"0/96 ethnically matched controls"	"{PMID:Leitch-2008:18327255}"	""	"R146X"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000811072"	"3"	"70"	"11"	"0"	"0"	""	"0"	"00000"	"DRD4_000002"	"g.?"	""	"{PMID:Leitch-2008:18327255}"	""	"R146X"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000811078"	"2"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Muller-2010:20177705}"	""	"c.1169T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000811080"	"1"	"90"	"11"	"66281934"	"66281934"	"subst"	"0"	"00000"	"BBS1_000190"	"g.66281934G>T"	""	"{PMID:Muller-2010:20177705}"	""	"c.217G>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000811081"	"3"	"90"	"11"	"66282037"	"66282049"	"dup"	"0"	"00000"	"BBS1_000191"	"g.66282037_66282049dup"	""	"{PMID:Muller-2010:20177705}"	""	"320-332Dup13pb"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000811082"	"3"	"70"	"11"	"66282099"	"66282099"	"subst"	"0"	"00000"	"BBS1_000192"	"g.66282099C>T"	""	"{PMID:Muller-2010:20177705}, Beales 2003"	""	"c.382C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000811083"	"3"	"70"	"11"	"66283014"	"66283014"	"subst"	"8.12222E-6"	"00000"	"BBS1_000116"	"g.66283014C>T"	""	"{PMID:Muller-2010:20177705}, Beales 2003"	""	"c.436C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000811084"	"2"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Muller-2010:20177705}, Beales 2003"	""	"c.1169T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000811085"	"1"	"70"	"11"	"66283014"	"66283014"	"subst"	"8.12222E-6"	"00000"	"BBS1_000116"	"g.66283014C>T"	""	"{PMID:Muller-2010:20177705}, Beales 2003"	""	"c.436C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000811086"	"2"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Muller-2010:20177705}, Katsanis 2000"	""	"c.1169T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000811088"	"1"	"70"	"11"	"66283014"	"66283014"	"subst"	"8.12222E-6"	"00000"	"BBS1_000116"	"g.66283014C>T"	""	"{PMID:Muller-2010:20177705}, Katsanis 2000"	""	"c.436C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000811089"	"2"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Muller-2010:20177705}"	""	"c.1169T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000811090"	"1"	"90"	"11"	"66283192"	"66283192"	"subst"	"0"	"00000"	"BBS1_000194"	"g.66283192C>T"	""	"{PMID:Muller-2010:20177705}"	""	"c.508C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000811091"	"2"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Muller-2010:20177705}"	""	"c.1169T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000811092"	"1"	"90"	"11"	"66290959"	"66290959"	"subst"	"0"	"00000"	"BBS1_000197"	"g.66290959T>G"	""	"{PMID:Muller-2010:20177705}"	""	"c.863T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000811093"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Muller-2010:20177705}, Mykytyn 2002"	""	"c.1169T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000811094"	"1"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Muller-2010:20177705}, Beales 2003"	""	"c.1169T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000811095"	"2"	"70"	"11"	"66294224"	"66294224"	"subst"	"8.12262E-6"	"00000"	"BBS1_000075"	"g.66294224C>T"	""	"{PMID:Muller-2010:20177705}, Beales 2003"	""	"c.1285C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000811096"	"1"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Muller-2010:20177705}, Beales 2003"	""	"c.1169T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000811097"	"2"	"70"	"11"	"66297397"	"66297397"	"subst"	"0"	"00000"	"BBS1_000076"	"g.66297397C>T"	""	"{PMID:Muller-2010:20177705}, Beales 2003"	""	"c.1447C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000811098"	"1"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Muller-2010:20177705}, Mykytyn 2002"	""	"c.1169T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000811099"	"1"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Muller-2010:20177705}, Mykytyn 2002"	""	"c.1169T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000811100"	"2"	"70"	"11"	"66299163"	"66299163"	"subst"	"1.62423E-5"	"00000"	"BBS1_000150"	"g.66299163G>T"	""	"{PMID:Muller-2010:20177705}, Mykytyn 2002"	""	"c.1645G>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000811101"	"2"	"70"	"11"	"66299163"	"66299163"	"subst"	"1.62423E-5"	"00000"	"BBS1_000150"	"g.66299163G>T"	""	"{PMID:Muller-2010:20177705}, Mykytyn 2002"	""	"c.1645G>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000811102"	"0"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Muller-2010:20177705}, Beales 2003"	""	"c.1169T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000811103"	"0"	"70"	"11"	"66294224"	"66294224"	"subst"	"8.12262E-6"	"00000"	"BBS1_000075"	"g.66294224C>T"	""	"{PMID:Muller-2010:20177705}, Beales 2003"	""	"c.1285C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000811219"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Duelund Hjortshoj-2010:20120035}"	""	"c.1169T>G (p.M390R)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000811238"	"3"	"70"	"11"	"66283057"	"66283057"	"subst"	"2.84301E-5"	"00000"	"BBS1_000071"	"g.66283057G>A"	""	"{PMID:Duelund Hjortshoj-2010:20120035}"	""	"c.479G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000811241"	"0"	"10"	"11"	"66291367"	"66291367"	"subst"	"0"	"00000"	"BBS1_000199"	"g.66291367C>G"	"0.02"	"{PMID:Duelund Hjortshoj-2010:20120035}"	""	"c.1110+14C>G"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000811242"	"0"	"10"	"11"	"66299518"	"66299526"	"dup"	"0"	"00000"	"BBS1_000204"	"g.66299518_66299526dup"	"0.01"	"{PMID:Duelund Hjortshoj-2010:20120035}"	""	"*10_18dup9"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000811265"	"20"	"90"	"11"	"66299168"	"66299168"	"del"	"0"	"00000"	"BBS1_000203"	"g.66299168del"	"0/192 ethnically matched control chromosomes"	"{PMID:Badano-2003:12837689}"	""	"1650DELC(L548fsX579)"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000811266"	"20"	"90"	"11"	"66299168"	"66299168"	"del"	"0"	"00000"	"BBS1_000203"	"g.66299168del"	"0/192 ethnically matched control chromosomes"	"{PMID:Badano-2003:12837689}"	""	"1650DELC(L548fsX579)"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000811267"	"10"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Badano-2003:12837689}"	""	"M390R"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000811268"	"10"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Badano-2003:12837689}"	""	"M390R"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000811270"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Badano-2003:12837689}"	""	"M390R"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000811272"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Badano-2003:12837689}"	""	"M390R"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000811274"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Badano-2003:12837689}"	""	"M390R"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000811277"	"20"	"90"	"11"	"66298501"	"66298501"	"subst"	"0"	"00000"	"BBS1_000202"	"g.66298501T>C"	""	"{PMID:Badano-2003:12837689}"	""	"IVS115+2T>C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000811279"	"0"	"90"	"11"	"66290947"	"66290947"	"del"	"8.1211E-6"	"00000"	"BBS1_000167"	"g.66290947del"	""	"{PMID:Hoskins-2003:12872256}"	""	"c.851delA"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000811281"	"0"	"90"	"11"	"66283020"	"66283020"	"subst"	"0.00029241"	"00000"	"BBS1_000193"	"g.66283020G>A"	""	"{PMID:Hoskins-2003:12872256}"	""	"c.442G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000811289"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Hoskins-2003:12872256}"	""	"c.1169T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000811294"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Fauser-2003:12920096}, Mykytyn 2002"	""	"1169T>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000811295"	"0"	"90"	"11"	"66298443"	"66298443"	"subst"	"0"	"00000"	"BBS1_000201"	"g.66298443T>C"	""	"{PMID:Fauser-2003:12920096}, Mykytyn 2003"	""	"1552T>C"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000811296"	"0"	"90"	"11"	"66291048"	"66291048"	"subst"	"4.06223E-6"	"00000"	"BBS1_000073"	"g.66291048G>A"	""	"{PMID:Fauser-2003:12920096}"	""	"IVS10+1G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000811297"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Fauser-2003:12920096}, Mykytyn 2002"	""	"1169T>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000811298"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Fauser-2003:12920096}, Mykytyn 2002"	""	"1169T>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000811299"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Fauser-2003:12920096}, Mykytyn 2002"	""	"1169T>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000811300"	"0"	"90"	"11"	"66288848"	"66288848"	"subst"	"0"	"00000"	"BBS1_000196"	"g.66288848G>A"	""	"{PMID:Fauser-2003:12920096}"	""	"IVS9+1G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000811301"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Fauser-2003:12920096}, Mykytyn 2002"	""	"1169T>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000811302"	"0"	"90"	"11"	"66283014"	"66283014"	"subst"	"8.12222E-6"	"00000"	"BBS1_000116"	"g.66283014C>T"	""	"{PMID:Fauser-2003:12920096}, Beales 2003"	""	"436C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000811303"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Fauser-2003:12920096}, Mykytyn 2002"	""	"1169T>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000811311"	"0"	"70"	"11"	"0"	"0"	""	"0"	"00000"	"DRD4_000002"	"g.?"	""	"{PMID:Eichers-2009:15224652}, Beales 2003"	""	"Q291X"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000811312"	"0"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Eichers-2009:15224652}, Beales 2003"	""	"M390R"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000811314"	"0"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Eichers-2009:15224652}, Beales 2003"	""	"M390R"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000811315"	"0"	"70"	"11"	"0"	"0"	""	"0"	"00000"	"DRD4_000002"	"g.?"	""	"{PMID:Eichers-2009:15224652}, Beales 2003"	""	"L548fsX579"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000811317"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Eichers-2009:15224652}, Beales 2003"	""	"M390R"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000811318"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Eichers-2009:15224652}, Beales 2003"	""	"M390R"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000811320"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Eichers-2009:15224652}, Beales 2003"	""	"M390R"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000811321"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Eichers-2009:15224652}, Beales 2003"	""	"M390R"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000811325"	"0"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Eichers-2009:15224652}, Beales 2003"	""	"M390R"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000811336"	"0"	"70"	"11"	"66298501"	"66298501"	"subst"	"0"	"00000"	"BBS1_000202"	"g.66298501T>C"	""	"{PMID:Eichers-2009:15224652}, Badano 2003"	""	"IVS15+2T>C"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000811342"	"0"	"70"	"11"	"66287196"	"66287196"	"subst"	"0.00746512"	"00000"	"BBS1_000118"	"g.66287196G>A"	""	"{PMID:Eichers-2009:15224652}, Badano 2003"	""	"E234K"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000811450"	"0"	"70"	"11"	"66278504"	"66278504"	"subst"	"4.06055E-6"	"00000"	"BBS1_000185"	"g.66278504G>A"	""	"{PMID:Alvarez-Satta 2014:24611592}, {PMID:Castro-Sanchez 2019:31506453}"	""	"c.68G>A/p.(W23*)"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.66511033G>A"	""	"likely pathogenic"	""
"0000811451"	"0"	"70"	"11"	"66291340"	"66291340"	"subst"	"0"	"00000"	"BBS1_000186"	"g.66291340T>A"	""	"{PMID:Alvarez-Satta 2014:24611592}, {PMID:Castro-Sanchez 2019:31506453}"	""	"c.1097T>A/p.(V366D)"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.66523869T>A"	""	"likely pathogenic"	""
"0000811452"	"1"	"70"	"11"	"66298406"	"66298416"	"del"	"0"	"00000"	"BBS1_000187"	"g.66298406_66298416del"	""	"{PMID:Alvarez-Satta 2014:24611592}, {PMID:Castro-Sanchez 2019:31506453}"	""	"c.1510_1520delCACCTGCAGAA/p.(H504Hfs*48)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.66530935_66530945del"	""	"likely pathogenic"	""
"0000811455"	"2"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Alvarez-Satta 2014:24611592}, {PMID:Castro-Sanchez 2019:31506453}"	""	""	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000811705"	"0"	"70"	"11"	"66278176"	"66278176"	"subst"	"4.06984E-6"	"00000"	"BBS1_000189"	"g.66278176A>T"	""	"{PMID:Manara 2019:31196119}"	""	"BBS1 c.46A>T, p.(Ser16Cys)"	"heterozygous"	"Germline"	"?"	"rs772917364"	"0"	""	""	"g.66510705A>T"	""	"likely pathogenic"	"ACMG"
"0000811712"	"0"	"50"	"11"	"66291259"	"66291259"	"subst"	"4.07412E-6"	"00000"	"BBS1_000198"	"g.66291259A>T"	""	"{PMID:Manara 2019:31196119}"	""	"BBS1 c.1016A>T, p.(His339Leu)"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.66523788A>T"	""	"VUS"	"ACMG"
"0000811714"	"0"	"90"	"11"	"66294224"	"66294224"	"dup"	"0"	"00000"	"BBS1_000200"	"g.66294224dup"	""	"{PMID:Manara 2019:31196119}"	""	"BBS1 c.1285dup, p.(Arg429Profs*72)"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.66526753dup"	""	"pathogenic"	"ACMG"
"0000812356"	"0"	"70"	"11"	"66283330"	"66283330"	"subst"	"0"	"00000"	"BBS1_000195"	"g.66283330A>G"	""	"{PMID:Martin Merida 2019:30902645}"	""	"BBS1 IVS6 c.519-2A>G p.(?), Ex.12 c.1169T>G p.(Met390Arg)"	"compound heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.66515859A>G"	""	"likely pathogenic"	""
"0000812357"	"0"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Martin Merida 2019:30902645}"	""	"BBS1 IVS6 c.519-2A>G p.(?), Ex.12 c.1169T>G p.(Met390Arg)"	"compound heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000812358"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Martin Merida 2019:30902645}"	""	"BBS1 Ex.12 c.1169T>G p.(Met390Arg), Ex.12 c.1169T>G p.(Met390Arg)"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000812478"	"3"	"70"	"11"	"66283057"	"66283057"	"subst"	"2.84301E-5"	"00000"	"BBS1_000071"	"g.66283057G>A"	""	"{PMID:Tayebi 2019:30820146}"	""	"c.479G>A, p.(Arg160Gln)"	"Homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.66515586G>A"	""	"likely pathogenic"	""
"0000813048"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Feuillan-2011:21209035}"	""	"c.1169T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000813049"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Feuillan-2011:21209035}"	""	"c.1169T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000813050"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Feuillan-2011:21209035}"	""	"c.1169T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000813051"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Feuillan-2011:21209035}"	""	"c.1169T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000813052"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Feuillan-2011:21209035}"	""	"c.1169T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000813053"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Feuillan-2011:21209035}"	""	"c.1169T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000813054"	"0"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Feuillan-2011:21209035}"	""	"c.1169T>G"	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000813055"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Feuillan-2011:21209035}"	""	"c.1169T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000813056"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Feuillan-2011:21209035}"	""	"c.1169T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000813057"	"0"	"70"	"11"	"66283014"	"66283014"	"subst"	"8.12222E-6"	"00000"	"BBS1_000116"	"g.66283014C>T"	""	"{PMID:Feuillan-2011:21209035}"	""	"c.436C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000813058"	"0"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Feuillan-2011:21209035}"	""	"c.1169T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000813059"	"0"	"70"	"11"	"66288847"	"66288847"	"subst"	"0"	"00000"	"BBS1_000207"	"g.66288847G>A"	""	"{PMID:Feuillan-2011:21209035}"	""	"c.830G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000813060"	"0"	"70"	"11"	"66293650"	"66293652"	"del"	"0"	"00000"	"BBS1_000215"	"g.66293650_66293652del"	""	"{PMID:Feuillan-2011:21209035}"	""	"c.1167_1169delCAT"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000813061"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Feuillan-2011:21209035}"	""	"c.1169T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000813132"	"0"	"30"	"11"	"66293650"	"66293650"	"subst"	"0"	"00000"	"BBS1_000213"	"g.66293650C>A"	""	"{PMID:Billingsley-2010:20472660}"	""	"[I389I]+[=]"	"normal 2nd chromosome"	"Germline"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000813153"	"0"	"50"	"11"	"0"	"0"	""	"0"	"00000"	"DRD4_000002"	"g.?"	""	"{PMID:Billingsley-2010:20472660}"	""	"[F534A]+[=]"	"normal 2nd chromosome"	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000813173"	"1"	"90"	"11"	"0"	"0"	""	"0"	"00000"	"DRD4_000002"	"g.?"	""	"{PMID:Billingsley-2010:20472660}"	""	"[M242RfsX83]+[M390R]"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000813174"	"2"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Billingsley-2010:20472660}"	""	"[M242RfsX83]+[M390R]"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000813176"	"3"	"90"	"11"	"0"	"0"	""	"0"	"00000"	"DRD4_000002"	"g.?"	""	"{PMID:Billingsley-2010:20472660}"	""	"[I296TfsX7]+[I296TfsX7]"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000813231"	"3"	"70"	"11"	"66278561"	"66278561"	"subst"	"0"	"00000"	"BBS1_000172"	"g.66278561G>A"	"0/96 ethnically matched controls"	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	""	"c.124+1G>A r.125_159del p.(L43Gfs*44)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000813233"	"3"	"70"	"11"	"66278561"	"66278561"	"subst"	"0"	"00000"	"BBS1_000172"	"g.66278561G>A"	"0/96 ethnically matched controls"	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	""	"c.124+1G>A r.125_159del p.(L43Gfs*44)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000813234"	"3"	"70"	"11"	"66278561"	"66278561"	"subst"	"0"	"00000"	"BBS1_000172"	"g.66278561G>A"	"0/96 ethnically matched controls"	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	""	"c.124+1G>A r.125_159del p.(L43Gfs*44)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000813235"	"3"	"70"	"11"	"66278561"	"66278561"	"subst"	"0"	"00000"	"BBS1_000172"	"g.66278561G>A"	"0/96 ethnically matched controls"	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	""	"c.124+1G>A r.125_159del p.(L43Gfs*44)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000813236"	"3"	"70"	"11"	"66278561"	"66278561"	"subst"	"0"	"00000"	"BBS1_000172"	"g.66278561G>A"	"0/96 ethnically matched controls"	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	""	"c.124+1G>A r.125_159del p.(L43Gfs*44)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000813251"	"3"	"70"	"11"	"66291682"	"66291682"	"subst"	"0"	"00000"	"BBS1_000212"	"g.66291682C>T"	"0/96 ethnically matched controls"	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	""	"c.1110+329C>T r.951_952ins951+1_952-1 p.(G318Vfs*36)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000813253"	"3"	"70"	"11"	"66291682"	"66291682"	"subst"	"0"	"00000"	"BBS1_000212"	"g.66291682C>T"	"0/96 ethnically matched controls"	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	""	"c.1110+329C>T r.951_952ins951+1_952-1 p.(G318Vfs*36)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000813254"	"1"	"70"	"11"	"66278561"	"66278561"	"subst"	"0"	"00000"	"BBS1_000172"	"g.66278561G>A"	"0/96 ethnically matched controls"	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	""	"c.[124+1G>A][951+58C>T] r.[125_159del, 951_952ins951+1_951+58] p.[(L43Gfs*44), (G318Vfs*62)]"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000813255"	"2"	"70"	"11"	"66291105"	"66291105"	"subst"	"0"	"00000"	"BBS1_000210"	"g.66291105C>T"	""	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	""	"c.[124+1G>A][951+58C>T] r.[125_159del, 951_952ins951+1_951+58] p.[(L43Gfs*44), (G318Vfs*62)]"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000813259"	"1"	"70"	"11"	"66278561"	"66278561"	"subst"	"0"	"00000"	"BBS1_000172"	"g.66278561G>A"	"0/96 ethnically matched controls"	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	""	"c.[124+1G>A][951+58C>T] r.[125_159del, 951_952ins951+1_951+58] p.[(L43Gfs*44), (G318Vfs*62)]"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000813260"	"2"	"70"	"11"	"66291105"	"66291105"	"subst"	"0"	"00000"	"BBS1_000210"	"g.66291105C>T"	""	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	""	"c.[124+1G>A][951+58C>T] r.[125_159del, 951_952ins951+1_951+58] p.[(L43Gfs*44), (G318Vfs*62)]"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000813261"	"3"	"70"	"11"	"66291105"	"66291105"	"subst"	"0"	"00000"	"BBS1_000210"	"g.66291105C>T"	"0/96 ethnically matched controls"	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	""	"c.951+58C>T p.(G318Vfs*62)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000813262"	"3"	"70"	"11"	"66291105"	"66291105"	"subst"	"0"	"00000"	"BBS1_000210"	"g.66291105C>T"	"0/96 ethnically matched controls"	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	""	"c.951+58C>T p.(G318Vfs*62)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000813263"	"3"	"70"	"11"	"66291105"	"66291105"	"subst"	"0"	"00000"	"BBS1_000210"	"g.66291105C>T"	"0/96 ethnically matched controls"	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	""	"c.951+58C>T p.(G318Vfs*62)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000813273"	"3"	"70"	"11"	"66291105"	"66291105"	"subst"	"0"	"00000"	"BBS1_000210"	"g.66291105C>T"	"0/96 ethnically matched controls"	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	""	"c.951+58C>T r.951_952ins951+1_951+58 p.(G318Vfs*62)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000813275"	"3"	"70"	"11"	"66291105"	"66291105"	"subst"	"0"	"00000"	"BBS1_000210"	"g.66291105C>T"	"0/96 ethnically matched controls"	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	""	"c.951+58C>T r.951_952ins951+1_951+58 p.(G318Vfs*62)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000813279"	"3"	"70"	"11"	"66278561"	"66278561"	"subst"	"0"	"00000"	"BBS1_000172"	"g.66278561G>A"	"0/96 ethnically matched controls"	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	""	"c.124+1G>A r.125_159del p.(L43Gfs*44)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000813294"	"3"	"70"	"11"	"66278561"	"66278561"	"subst"	"0"	"00000"	"BBS1_000172"	"g.66278561G>A"	"0/96 ethnically matched controls"	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	""	"c.124+1G>A r.125_159del p.(L43Gfs*44)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000813295"	"3"	"70"	"11"	"66278561"	"66278561"	"subst"	"0"	"00000"	"BBS1_000172"	"g.66278561G>A"	"0/96 ethnically matched controls"	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	""	"c.124+1G>A r.125_159del p.(L43Gfs*44)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000813302"	"3"	"70"	"11"	"66291105"	"66291105"	"subst"	"0"	"00000"	"BBS1_000210"	"g.66291105C>T"	"0/96 ethnically matched controls"	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	""	"c.951+58C>T r.951_952ins951+1_951+58 p.(G318Vfs*62)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000813304"	"3"	"70"	"11"	"66291105"	"66291105"	"subst"	"0"	"00000"	"BBS1_000210"	"g.66291105C>T"	"0/96 ethnically matched controls"	"{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010"	""	"c.951+58C>T r.951_952ins951+1_951+58 p.(G318Vfs*62)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000813318"	"0"	"50"	"11"	"66290985"	"66290985"	"subst"	"2.03039E-5"	"00000"	"BBS1_000208"	"g.66290985C>T"	""	"{PMID:Abu-Safieh-2012:22353939}"	""	"c.889C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000813325"	"0"	"50"	"11"	"66299202"	"66299202"	"subst"	"0"	"00000"	"BBS1_000218"	"g.66299202G>A"	""	"{PMID:Abu-Safieh-2012:22353939}, Stoetzel 2006"	""	"c.1684G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000813327"	"0"	"50"	"11"	"66299202"	"66299202"	"subst"	"0"	"00000"	"BBS1_000218"	"g.66299202G>A"	""	"{PMID:Abu-Safieh-2012:22353939}"	""	"c.1684G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000813330"	"0"	"50"	"11"	"66299202"	"66299202"	"subst"	"0"	"00000"	"BBS1_000218"	"g.66299202G>A"	""	"{PMID:Abu-Safieh-2012:22353939}"	""	"c.1684G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000813871"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Jiman 2020:31836858}"	""	"BBS1;NM_024649.4;;c.[1169T>G];[1169T>G];p.[(Met390Arg)];[(Met390Arg)]"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000813872"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Jiman 2020:31836858}"	""	"BBS1;NM_024649.4;;c.[1169T>G];[1169T>G]p.[(Met390Arg)];[(Met390Arg)]"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000813873"	"1"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Jiman 2020:31836858}"	""	"BBS1;NM_024649.4;;c.[1169T>G];[1514_1515del];p.[(Met390Arg)];[(Leu505Profs*52)]"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000813874"	"2"	"70"	"11"	"66298405"	"66298406"	"del"	"4.06058E-6"	"00000"	"BBS1_000161"	"g.66298405_66298406del"	""	"{PMID:Jiman 2020:31836858}"	""	"BBS1;NM_024649.4;;c.[1169T>G];[1514_1515del];p.[(Met390Arg)];[(Leu505Profs*52)]"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.66530934_66530935del"	""	"likely pathogenic"	""
"0000813893"	"3"	"70"	"11"	"66291353"	"66291353"	"subst"	"8.17728E-6"	"00000"	"BBS1_000145"	"g.66291353G>A"	""	"{PMID:Jiman 2020:31836858}"	""	"BBS1;NM_024649.4;c.[1110G>A];[1110G>A];p.[(Pro370Pro)];[(Pro370Pro)]"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.66523882G>A"	""	"likely pathogenic"	""
"0000813894"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Jiman 2020:31836858}"	""	"BBS1;NM_024649.4;c.[1169T>G];[1169T>G];p.[(Met390Arg)];[(Met390Arg)]"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000813906"	"3"	"90"	"11"	"66299163"	"66299163"	"subst"	"1.62423E-5"	"00000"	"BBS1_000150"	"g.66299163G>T"	""	"{PMID:Chen-2011:21642631}"	""	"c.1645G>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000813908"	"3"	"70"	"11"	"66297427"	"66297427"	"subst"	"0"	"00000"	"DRD4_000002"	"g.66297427A>G"	""	"{PMID:Chen-2011:21642631}"	""	"c.1473+4A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000813910"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Chen-2011:21642631}"	""	"c.1169T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000813911"	"0"	"90"	"11"	"66299163"	"66299163"	"subst"	"1.62423E-5"	"00000"	"BBS1_000150"	"g.66299163G>T"	""	"{PMID:Chen-2011:21642631}"	""	"c.1645G>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000813926"	"0"	"90"	"11"	"66298426"	"66298426"	"subst"	"6.09088E-5"	"00000"	"BBS1_000216"	"g.66298426G>A"	""	"{PMID:Chen-2011:21642631}"	""	"c.1535G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000813927"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Chen-2011:21642631}"	""	"c.1169T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000813928"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Chen-2011:21642631}"	""	"c.1169T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000813929"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Chen-2011:21642631}"	""	"c.1169T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000813930"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Chen-2011:21642631}"	""	"c.1169T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000813931"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Chen-2011:21642631}"	""	"c.1169T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000813932"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Chen-2011:21642631}"	""	"c.1169T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000813933"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Chen-2011:21642631}"	""	"c.1169T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000813934"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Chen-2011:21642631}"	""	"c.1169T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000813935"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Chen-2011:21642631}"	""	"c.1169T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000813936"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Chen-2011:21642631}"	""	"c.1169T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000813937"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Chen-2011:21642631}"	""	"c.1169T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000813938"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Chen-2011:21642631}"	""	"c.1169T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000813939"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Chen-2011:21642631}"	""	"c.1169T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000813940"	"0"	"70"	"11"	"66283203"	"66283203"	"subst"	"8.12321E-6"	"00000"	"BBS1_000206"	"g.66283203G>A"	""	"{PMID:Chen-2011:21642631}"	""	"c.518+1G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000813941"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Chen-2011:21642631}"	""	"c.1169T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000813942"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Chen-2011:21642631}"	""	"c.1169T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000813943"	"0"	"90"	"11"	"66299163"	"66299163"	"subst"	"1.62423E-5"	"00000"	"BBS1_000150"	"g.66299163G>T"	""	"{PMID:Chen-2011:21642631}"	""	"c.1645G>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000813980"	"3"	"90"	"11"	"66287166"	"66287166"	"subst"	"4.06448E-6"	"00000"	"BBS1_000140"	"g.66287166G>A"	""	"{PMID:Redin-2012:22773737}"	""	"c.[670G>A];[670G>A]"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000814001"	"3"	"90"	"11"	"66283057"	"66283057"	"subst"	"2.84301E-5"	"00000"	"BBS1_000071"	"g.66283057G>A"	""	"{PMID:Redin-2012:22773737}"	""	"c.[479G>A];[479G>A]"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000814004"	"0"	"90"	"11"	"66291048"	"66291048"	"subst"	"4.06223E-6"	"00000"	"BBS1_000073"	"g.66291048G>A"	""	"{PMID:Redin-2012:22773737}"	""	"c.[951+1G>A];[1169T>G]"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000814005"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Redin-2012:22773737}"	""	"c.1169T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000814013"	"3"	"90"	"11"	"66297427"	"66297427"	"subst"	"0"	"00000"	"DRD4_000002"	"g.66297427A>G"	""	"{PMID:Redin-2012:22773737}"	""	"c.[1473+4A>G];[1473+4A>G]"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000814015"	"3"	"90"	"11"	"66283014"	"66283014"	"subst"	"8.12222E-6"	"00000"	"BBS1_000116"	"g.66283014C>T"	""	"{PMID:Redin-2012:22773737}"	""	"c.[436C>T];[436C>T]"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000814017"	"3"	"90"	"11"	"66278169"	"66278169"	"del"	"0"	"00000"	"BBS1_000173"	"g.66278169del"	""	"{PMID:Redin-2012:22773737}"	""	"c.[39del"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000814049"	"3"	"90"	"11"	"66291353"	"66291353"	"subst"	"8.17728E-6"	"00000"	"BBS1_000145"	"g.66291353G>A"	""	"{PMID:M\'hamdi-2014:23432027}"	""	"c.1110G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000814050"	"3"	"90"	"11"	"66291353"	"66291353"	"subst"	"8.17728E-6"	"00000"	"BBS1_000145"	"g.66291353G>A"	""	"{PMID:M\'hamdi-2014:23432027}"	""	"c.1110G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000814053"	"3"	"90"	"11"	"66297427"	"66297427"	"subst"	"0"	"00000"	"DRD4_000002"	"g.66297427A>G"	""	"{PMID:M\'hamdi-2014:23432027}"	""	"c.1473+4A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000814054"	"3"	"90"	"11"	"66283026"	"66283026"	"subst"	"0"	"00000"	"DRD4_000002"	"g.66283026C>T"	""	"{PMID:M\'hamdi-2014:23432027}"	""	"c.448C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000814055"	"3"	"90"	"11"	"66283026"	"66283026"	"subst"	"0"	"00000"	"DRD4_000002"	"g.66283026C>T"	""	"{PMID:M\'hamdi-2014:23432027}"	""	"c.448C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000814056"	"3"	"90"	"11"	"66283026"	"66283026"	"subst"	"0"	"00000"	"DRD4_000002"	"g.66283026C>T"	""	"{PMID:M\'hamdi-2014:23432027}"	""	"c.448C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000814080"	"0"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Imhoff-2011:20876674}"	""	"R429X/N"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814081"	"0"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Imhoff-2011:20876674}"	""	"R429X/N"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814082"	"0"	"50"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Imhoff-2011:20876674}"	""	"[p.K46R]"	"normal 2nd chromosome"	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000814083"	"0"	"50"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Imhoff-2011:20876674}"	""	"[p.D8D]"	"normal 2nd chromosome"	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000814084"	"0"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Imhoff-2011:20876674}"	""	"[p.E412D]"	"normal 2nd chromosome"	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814085"	"0"	"50"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Imhoff-2011:20876674}"	""	"[p.A296T]"	"normal 2nd chromosome"	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000814086"	"0"	"50"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Imhoff-2011:20876674}"	""	"[p.H715R]"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000814087"	"0"	"50"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Imhoff-2011:20876674}"	""	"[p.I39T]"	"normal 2nd chromosome"	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000814088"	"0"	"50"	"11"	"0"	"0"	""	"0"	"00000"	"DRD4_000002"	"g.?"	""	"{PMID:Imhoff-2011:20876674}"	""	"[p.V57V]"	"normal 2nd chromosome"	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000814089"	"0"	"50"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Imhoff-2011:20876674}"	""	"[p.E61K]"	"normal 2nd chromosome"	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000814090"	"0"	"50"	"11"	"66299163"	"66299163"	"subst"	"1.62423E-5"	"00000"	"BBS1_000150"	"g.66299163G>T"	""	"{PMID:Imhoff-2011:20876674}"	""	"[p.R355Q]"	"normal 2nd chromosome"	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000814091"	"0"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Imhoff-2011:20876674}"	""	"[p.R703X]"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814092"	"0"	"70"	"11"	"66299163"	"66299163"	"subst"	"1.62423E-5"	"00000"	"BBS1_000150"	"g.66299163G>T"	""	"{PMID:Imhoff-2011:20876674}"	""	"[p.Y24X]1"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814093"	"0"	"70"	"11"	"0"	"0"	""	"0"	"00000"	"DRD4_000002"	"g.?"	""	"{PMID:Imhoff-2011:20876674}"	""	"[p.T446T]"	"normal 2nd chromosome"	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814094"	"0"	"70"	"11"	"0"	"0"	""	"0"	"00000"	"DRD4_000002"	"g.?"	""	"{PMID:Imhoff-2011:20876674}"	""	"[p.C307W]"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814118"	"0"	"50"	"11"	"66283057"	"66283057"	"subst"	"2.84301E-5"	"00000"	"BBS1_000071"	"g.66283057G>A"	""	"{PMID:Deveault-2011:21344540}"	""	"[p.M390R]"	"normal 2nd chromosome"	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000814120"	"0"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Deveault-2011:21344540}"	""	"[p.N251D]"	"normal 2nd chromosome"	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814121"	"0"	"70"	"11"	"66298461"	"66298463"	"del"	"0"	"00000"	"BBS1_000217"	"g.66298461_66298463delAAC"	""	"{PMID:Deveault-2011:21344540}"	""	"[p.R299Q]"	"normal 2nd chromosome"	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814122"	"0"	"50"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Deveault-2011:21344540}"	""	"[p.Q291X]"	"normal 2nd chromosome"	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000814123"	"1"	"70"	"11"	"66278154"	"66278154"	"subst"	"0.00400257"	"00000"	"BBS1_000064"	"g.66278154T>C"	""	"{PMID:Deveault-2011:21344540}"	""	"[p.M390R];[p.N524del]"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814125"	"1"	"70"	"11"	"66291232"	"66291232"	"subst"	"0"	"00000"	"BBS1_000211"	"g.66291232T>C"	""	"{PMID:Deveault-2011:21344540}"	""	"[p.M242RfsX83];[p.M390R]"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814126"	"1"	"70"	"11"	"0"	"0"	""	"0"	"00000"	"DRD4_000002"	"g.?"	""	"{PMID:Deveault-2011:21344540}"	""	"[p.M390R];[p.L505PfsX52]"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814127"	"1"	"70"	"11"	"66278131"	"66278131"	"subst"	"4.06805E-6"	"00000"	"BBS1_000188"	"g.66278131A>G"	""	"{PMID:Deveault-2011:21344540}"	""	"[p.M390R];[p.L505PfsX52]"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814128"	"1"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Deveault-2011:21344540}"	""	"[p.M390R];[c.951+2T>C]"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814130"	"1"	"70"	"11"	"0"	"0"	""	"0"	"00000"	"DRD4_000002"	"g.?"	""	"{PMID:Deveault-2011:21344540}"	""	"[p.R622X];[p.A136P]"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814131"	"1"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Deveault-2011:21344540}"	""	"[p.K39K];[p.R324X]"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814133"	"1"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Deveault-2011:21344540}"	""	"[p.G63R];[IVS6+2T>C]"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814134"	"1"	"70"	"11"	"0"	"0"	""	"0"	"00000"	"DRD4_000002"	"g.?"	""	"{PMID:Deveault-2011:21344540}"	""	"[p.R238EfsX59];[p.S374X]"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814135"	"1"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Deveault-2011:21344540}"	""	"[p.G162fsX4];[p.I334fsX1]"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814137"	"1"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Deveault-2011:21344540}"	""	"[p.C91LfsX5];[p.E104KfsX7]"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814138"	"1"	"70"	"11"	"0"	"0"	""	"0"	"00000"	"DRD4_000002"	"g.?"	""	"{PMID:Deveault-2011:21344540}"	""	"[p.C91W];[p.A474MfsX10]"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814139"	"1"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Deveault-2011:21344540}"	""	"[p.C91LfsX5];[p.V230FfsX7]"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814140"	"1"	"70"	"11"	"0"	"0"	""	"0"	"00000"	"DRD4_000002"	"g.?"	""	"{PMID:Deveault-2011:21344540}"	""	"[p.C91LfsX5];[p.Y559X]"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814141"	"1"	"70"	"11"	"66291049"	"66291049"	"subst"	"0"	"00000"	"BBS1_000209"	"g.66291049T>C"	""	"{PMID:Deveault-2011:21344540}"	""	"[p.C91LfsX5];[p.L414S]"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814142"	"1"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Deveault-2011:21344540}"	""	"[p.C91LfsX5];[p.H410Q]"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814143"	"1"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Deveault-2011:21344540}"	""	"[p.C91LfsX5];[p.Y469X]"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814144"	"1"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Deveault-2011:21344540}"	""	"[c.197+1G>T];[p.L600S]"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814157"	"2"	"70"	"11"	"66294277"	"66294277"	"subst"	"0.000407425"	"00000"	"BBS1_000130"	"g.66294277C>T"	""	"{PMID:Deveault-2011:21344540}"	""	"[p.K39K];[p.R324X]"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814198"	"3"	"70"	"11"	"66293650"	"66293650"	"subst"	"4.06213E-6"	"00000"	"BBS1_000214"	"g.66293650C>T"	""	"{PMID:Deveault-2011:21344540}"	""	"[p.I296TfsX7];[p.I296TfsX7]"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814222"	"3"	"70"	"11"	"0"	"0"	""	"0"	"00000"	"DRD4_000002"	"g.?"	""	"{PMID:Deveault-2011:21344540}"	""	"[p.K243IfsX15];[p.K243IfsX15]"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814246"	"0"	"70"	"11"	"0"	"0"	""	"0"	"00000"	"DRD4_000002"	"g.?"	""	"{PMID:Deveault-2011:21344540}"	""	"P134fsX200/L209fsX229"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814247"	"0"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Deveault-2011:21344540}"	""	"(429delCT433delAG)"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814251"	"0"	"70"	"11"	"0"	"0"	""	"0"	"00000"	"DRD4_000002"	"g.?"	""	"{PMID:Deveault-2011:21344540}"	""	"C91fsX95/Y321X"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814522"	"0"	"90"	"11"	"66283014"	"66283014"	"subst"	"8.12222E-6"	"00000"	"BBS1_000116"	"g.66283014C>T"	"0.015"	"{PMID:Janssen-2011:21052717}"	""	"c.436C>T(h)"	"Family AR122 (A2831) has previously been published for linkage to the BBS1 locus by Katsanis et al. 1999"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000814523"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Janssen-2011:21052717}"	""	"c.1169T>G(h)"	"Family AR122 (A2831) has previously been published for linkage to the BBS1 locus by Katsanis et al. 1999"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000814538"	"0"	"90"	"11"	"66283014"	"66283014"	"subst"	"8.12222E-6"	"00000"	"BBS1_000116"	"g.66283014C>T"	"0.009"	"{PMID:Janssen-2011:21052717}"	""	"c.436C>T(h)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000814539"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Janssen-2011:21052717}"	""	"c.1169T>G(h)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000814540"	"0"	"90"	"11"	"66283014"	"66283014"	"subst"	"8.12222E-6"	"00000"	"BBS1_000116"	"g.66283014C>T"	"0.009"	"{PMID:Janssen-2011:21052717}"	""	"c.436C>T(h)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000814541"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Janssen-2011:21052717}"	""	"c.1169T>G(h)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000814542"	"0"	"90"	"11"	"66281940"	"66281941"	"del"	"0"	"00000"	"BBS1_000153"	"g.66281940_66281941del"	"0.009"	"{PMID:Janssen-2011:21052717}"	""	"c.223_224delCT(h)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000814543"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Janssen-2011:21052717}"	""	"c.1169T>G(h)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000814544"	"0"	"50"	"11"	"66287112"	"66287112"	"subst"	"0.000499569"	"00000"	"BBS1_000117"	"g.66287112T>G"	""	"{PMID:Janssen-2011:21052717}"	""	"c.616T>G(h)"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000814545"	"0"	"90"	"11"	"66281940"	"66281941"	"del"	"0"	"00000"	"BBS1_000153"	"g.66281940_66281941del"	"0.009"	"{PMID:Janssen-2011:21052717}"	""	"c.223_224delCT(h)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000814546"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Janssen-2011:21052717}"	""	"c.1169T>G(h)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000814547"	"0"	"50"	"11"	"66287112"	"66287112"	"subst"	"0.000499569"	"00000"	"BBS1_000117"	"g.66287112T>G"	""	"{PMID:Janssen-2011:21052717}"	""	"c.616T>G(h)"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000814572"	"3"	"90"	"11"	"66283163"	"66283163"	"subst"	"0"	"00000"	"BBS1_000135"	"g.66283163G>C"	"0.037"	"{PMID:Janssen-2011:21052717}"	""	"c.IVS5-1G>C(H)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000814574"	"0"	"70"	"11"	"66288751"	"66288751"	"subst"	"6.90322E-5"	"00000"	"BBS1_000220"	"g.66288751C>T"	"1.6% ; absent in 96 controls"	"{PMID:Janssen-2011:21052717}"	""	"c.734C>T(h)"	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814576"	"0"	"70"	"11"	"66290967"	"66290967"	"subst"	"0"	"00000"	"BBS1_000149"	"g.66290967C>T"	"2.9% ; absent in 96 controls"	"{PMID:Janssen-2011:21052717}"	""	"c.871C>T(h)"	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814577"	"0"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	"9.1% ; absent in 96 controls"	"{PMID:Janssen-2011:21052717}"	""	"c.1169T>G(h)"	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814578"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Janssen-2011:21052717}"	""	"c.1169T>G(H)"	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814630"	"0"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Alvarez-Satta-2014:24611592}"	""	"c.1169T>G/p.(Met390Arg)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814631"	"0"	"70"	"11"	"66290959"	"66290959"	"subst"	"0"	"00000"	"BBS1_000197"	"g.66290959T>G"	""	"{PMID:Alvarez-Satta-2014:24611592}"	""	"c.863T>G/p.(Leu288Arg)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814632"	"0"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Alvarez-Satta-2014:24611592}"	""	"c.1169T>G/p.(Met390Arg)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814633"	"0"	"70"	"11"	"66291340"	"66291340"	"subst"	"0"	"00000"	"BBS1_000186"	"g.66291340T>A"	"0/100 chromosomes"	"{PMID:Alvarez-Satta-2014:24611592}"	""	"c.1097T>A/p.(Val366Asp)b,c"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814634"	"0"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Alvarez-Satta-2014:24611592}"	""	"c.1169T>G/p.(Met390Arg)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814635"	"0"	"70"	"11"	"66290933"	"66290933"	"del"	"0"	"00000"	"BBS1_000221"	"g.66290933del"	"0/100 chromosomes"	"{PMID:Alvarez-Satta-2014:24611592}"	""	"c.836delC/p.(Asp278fs*9)b"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814664"	"0"	"90"	"11"	"66299163"	"66299163"	"subst"	"1.62423E-5"	"00000"	"BBS1_000150"	"g.66299163G>T"	""	"{PMID:Lindstrand-2014:24746959}"	""	"c.1645G>T(p.Glu549*);het"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000814666"	"0"	"90"	"11"	"66278118"	"66291354"	"del"	"0"	"00000"	"BBS1_000219"	"g.(?_66278118)_(66291354_?)del"	""	"{PMID:Lindstrand-2014:24746959}"	""	"delexon1_11;het"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000815988"	"3"	"50"	"11"	"66288832"	"66288832"	"subst"	"0"	"00000"	"BBS1_000223"	"g.66288832T>C"	""	"{PMID:Zampaglione 2020:32037395}"	""	"BBS1 c.815T>C, p.Ile272Thr"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.66521361T>C"	""	"VUS"	""
"0000816095"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Zampaglione 2020:32037395}"	""	"BBS1 c.1169T>G, p.Met390Arg"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic"	""
"0000816232"	"0"	"90"	"11"	"66282150"	"66282150"	"subst"	"4.12613E-6"	"00000"	"BBS1_000222"	"g.66282150G>A"	""	"{PMID:Zampaglione 2020:32037395}"	""	"BBS1 c.432+1G>A"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.66514679G>A"	""	"pathogenic"	""
"0000816247"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Zampaglione 2020:32037395}"	""	"BBS1 c.1169T>G, p.Met390Arg"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic"	""
"0000816332"	"0"	"50"	"11"	"66288832"	"66288832"	"subst"	"0"	"00000"	"BBS1_000223"	"g.66288832T>C"	""	"{PMID:Zampaglione 2020:32037395}"	""	"c.815T>C, p.Ile272Thr"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.66521361T>C"	""	"VUS"	""
"0000816420"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Zampaglione 2020:32037395}"	""	"c.1169T>G, p.Met390Arg"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic"	""
"0000816522"	"0"	"90"	"11"	"66299163"	"66299163"	"subst"	"1.62423E-5"	"00000"	"BBS1_000150"	"g.66299163G>T"	""	"{PMID:Zampaglione 2020:32037395}"	""	"c.1645G>T, p.Glu549Ter"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.66531692G>T"	""	"pathogenic"	""
"0000816532"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Zampaglione 2020:32037395}"	""	"c.1169T>G, p.Met390Arg"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic"	""
"0000816817"	"1"	"70"	"11"	"66299163"	"66299163"	"subst"	"1.62423E-5"	"00000"	"BBS1_000150"	"g.66299163G>T"	""	"{PMID:Jauregui 2020:32098976}"	""	"BBS1 c.1645G>T, p.E549X"	"compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.66531692G>T"	""	"likely pathogenic"	""
"0000817395"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Castro Sanchez 2015:26082521}"	""	"p.(Met390Arg)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817396"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Castro Sanchez 2015:26082521}"	""	"p.(Met390Arg)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817397"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Castro Sanchez 2015:26082521}"	""	"p.(Met390Arg)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817399"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Castro Sanchez 2015:26082521}"	""	"p.(Met390Arg)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817400"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Castro Sanchez 2015:26082521}"	""	"p.(Met390Arg)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817401"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Castro Sanchez 2015:26082521}"	""	"p.(Met390Arg)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817402"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Castro Sanchez 2015:26082521}"	""	"p.(Met390Arg)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817403"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Castro Sanchez 2015:26082521}"	""	"p.(Met390Arg)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817404"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Castro Sanchez 2015:26082521}"	""	"p.(Met390Arg)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817405"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Castro Sanchez 2015:26082521}"	""	"p.(Met390Arg)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817406"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Castro Sanchez 2015:26082521}"	""	"p.(Met390Arg)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817407"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Castro Sanchez 2015:26082521}"	""	"p.(Met390Arg)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817408"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Castro Sanchez 2015:26082521}"	""	"p.(Met390Arg)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817409"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Castro Sanchez 2015:26082521}"	""	"p.(Met390Arg)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817410"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Castro Sanchez 2015:26082521}"	""	"p.(Met390Arg)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817411"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Castro Sanchez 2015:26082521}"	""	"p.(Met390Arg)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817412"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Castro Sanchez 2015:26082521}"	""	"p.(Met390Arg)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817413"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Castro Sanchez 2015:26082521}"	""	"p.(Met390Arg)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817414"	"3"	"10"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Castro Sanchez 2015:26082521}, {PMID:Alvarez-Satta 2017:28502102}"	""	"p.(Met390Arg)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000817416"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Castro Sanchez 2015:26082521}"	""	"p.(Met390Arg)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817417"	"0"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Castro Sanchez 2015:26082521}"	""	"p.(Met390Arg)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817418"	"0"	"70"	"11"	"66299163"	"66299163"	"subst"	"1.62423E-5"	"00000"	"BBS1_000150"	"g.66299163G>T"	""	"{PMID:Castro Sanchez 2015:26082521}"	""	"p.(Glu549*)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817419"	"0"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Castro Sanchez 2015:26082521}"	""	"p.(Met390Arg)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817420"	"0"	"70"	"11"	"66299163"	"66299163"	"subst"	"1.62423E-5"	"00000"	"BBS1_000150"	"g.66299163G>T"	""	"{PMID:Castro Sanchez 2015:26082521}"	""	"p.(Glu549*)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817421"	"0"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Castro Sanchez 2015:26082521}"	""	"p.(Met390Arg)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817422"	"0"	"70"	"11"	"66299163"	"66299163"	"subst"	"1.62423E-5"	"00000"	"BBS1_000150"	"g.66299163G>T"	""	"{PMID:Castro Sanchez 2015:26082521}"	""	"p.(Glu549*)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817423"	"0"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Castro Sanchez 2015:26082521}"	""	"p.(Met390Arg)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817424"	"0"	"70"	"11"	"66283014"	"66283014"	"subst"	"8.12222E-6"	"00000"	"BBS1_000116"	"g.66283014C>T"	""	"{PMID:Castro Sanchez 2015:26082521}"	""	"p.(Arg146*)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817425"	"0"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Castro Sanchez 2015:26082521}"	""	"p.(Met390Arg)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817426"	"0"	"70"	"11"	"0"	"0"	""	"0"	"00000"	"DRD4_000002"	"g.?"	""	"{PMID:Castro Sanchez 2015:26082521}"	""	"p.(Asp278fs*9)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817427"	"0"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Castro Sanchez 2015:26082521}"	""	"p.(Met390Arg)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817428"	"0"	"70"	"11"	"0"	"0"	""	"0"	"00000"	"DRD4_000002"	"g.?"	""	"{PMID:Castro Sanchez 2015:26082521}"	""	"p.(Asp278fs*9)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817429"	"0"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Castro Sanchez 2015:26082521}"	""	"p.(Met390Arg)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817430"	"0"	"70"	"11"	"66299163"	"66299163"	"subst"	"1.62423E-5"	"00000"	"BBS1_000150"	"g.66299163G>T"	""	"{PMID:Castro Sanchez 2015:26082521}"	""	"p.(Glu549*)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817431"	"0"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Castro Sanchez 2015:26082521}"	""	"p.(Met390Arg)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817432"	"0"	"70"	"11"	"66299163"	"66299163"	"subst"	"1.62423E-5"	"00000"	"BBS1_000150"	"g.66299163G>T"	""	"{PMID:Castro Sanchez 2015:26082521}"	""	"p.(Glu549*)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817433"	"0"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Castro Sanchez 2015:26082521}"	""	"p.(Met390Arg)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817434"	"0"	"70"	"11"	"66290959"	"66290959"	"subst"	"0"	"00000"	"BBS1_000197"	"g.66290959T>G"	""	"{PMID:Castro Sanchez 2015:26082521}"	""	"p.(Leu288Arg)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817435"	"0"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Castro Sanchez 2015:26082521}"	""	"p.(Met390Arg)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817436"	"0"	"70"	"11"	"66291340"	"66291340"	"subst"	"0"	"00000"	"BBS1_000186"	"g.66291340T>A"	""	"{PMID:Castro Sanchez 2015:26082521}"	""	"p.(Val366Asp)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817437"	"0"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Castro Sanchez 2015:26082521}"	""	"p.(Met390Arg)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817438"	"0"	"70"	"11"	"66291340"	"66291340"	"subst"	"0"	"00000"	"BBS1_000186"	"g.66291340T>A"	""	"{PMID:Castro Sanchez 2015:26082521}"	""	"p.(Val366Asp)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817439"	"0"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Castro Sanchez 2015:26082521}"	""	"p.(Met390Arg)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817440"	"0"	"70"	"11"	"0"	"0"	""	"0"	"00000"	"DRD4_000002"	"g.?"	""	"{PMID:Castro Sanchez 2015:26082521}"	""	"p.(His504fs*48)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817441"	"0"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Castro Sanchez 2015:26082521}"	""	"p.(Met390Arg)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817442"	"0"	"70"	"11"	"0"	"0"	""	"0"	"00000"	"DRD4_000002"	"g.?"	""	"{PMID:Castro Sanchez 2015:26082521}"	""	"p.(His504fs*48)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817538"	"3"	"70"	"11"	"66278483"	"66278483"	"subst"	"4.06058E-6"	"00000"	"BBS1_000171"	"g.66278483G>A"	""	"{PMID:Knopp 2015:26003401}"	""	"c.48-1G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000817566"	"0"	"50"	"11"	"66291105"	"66291105"	"subst"	"0"	"00000"	"BBS1_000210"	"g.66291105C>T"	""	"{PMID:Scheidecker 2015:25982971}"	""	"p.M390R"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000817567"	"0"	"50"	"11"	"0"	"0"	""	"0"	"00000"	"DRD4_000002"	"g.?"	""	"{PMID:Scheidecker 2015:25982971}"	""	"p.G318Vfs*61"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000818185"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Wang 2016:27788217}"	""	"c.1169T>G(p.M390R)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818186"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Wang 2016:27788217}"	""	"c.1169T>G(p.M390R)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818194"	"0"	"90"	"11"	"66299163"	"66299163"	"subst"	"1.62423E-5"	"00000"	"BBS1_000150"	"g.66299163G>T"	""	"{PMID:Wang 2016:27788217}"	""	"c.1645G>T(p.E549*)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818195"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Wang 2016:27788217}"	""	"c.1169T>G(p.M390R)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818199"	"3"	"90"	"11"	"66287160"	"66287160"	"subst"	"8.12744E-6"	"00000"	"BBS1_000225"	"g.66287160G>C"	""	"{PMID:Esposito 2017:28143435}"	""	"c.664G>C/c.664G>C (p.G222R)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818200"	"3"	"90"	"11"	"66287160"	"66287160"	"subst"	"8.12744E-6"	"00000"	"BBS1_000225"	"g.66287160G>C"	""	"{PMID:Esposito 2017:28143435}"	""	"c.664G>C/c.664G>C (p.G222R)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818201"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Esposito 2017:28143435}"	""	"c.1169T>G/c.1169T>G (p.M390R)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818202"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Esposito 2017:28143435}"	""	"c.1169T>G / c.1169T>G (p.M390R)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818203"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Esposito 2017:28143435}"	""	"c.1169T>G / c.1169T>G (p.M390R)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818204"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Esposito 2017:28143435}"	""	"c.1169T>G/c.1642delC"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818205"	"0"	"90"	"11"	"66299160"	"66299160"	"del"	"0"	"00000"	"BBS1_000227"	"g.66299160delC"	""	"{PMID:Esposito 2017:28143435}"	""	"c.1169T>G/c.1642delC"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818206"	"0"	"90"	"11"	"66287029"	"66287029"	"subst"	"0"	"00000"	"BBS1_000224"	"g.66287029G>A"	""	"{PMID:Esposito 2017:28143435}"	""	"c.592-59G>A/N"	"normal 2nd chromosome"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818207"	"0"	"90"	"11"	"66299428"	"66299428"	"subst"	"0"	"00000"	"BBS1_000228"	"g.66299428G>A"	""	"{PMID:Esposito 2017:28143435}"	""	"c.1702G>A/N (p.V568M)"	"normal 2nd chromosome"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818399"	"21"	"90"	"11"	"66294224"	"66294224"	"subst"	"8.12262E-6"	"00000"	"BBS1_000075"	"g.66294224C>T"	""	"{PMID:Surl 2020:32165824}, {PMID:Moon 2021:35052368}"	""	"c.1285C>T:p.(Arg429*)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.66526753C>T"	""	"pathogenic (recessive)"	"ACMG"
"0000818400"	"21"	"90"	"11"	"66291004"	"66291004"	"del"	"0"	"00000"	"BBS1_000134"	"g.66291004del"	""	"{PMID:Surl 2020:32165824}, {PMID:Moon 2021:35052368}"	""	"c.908delT:p.(Val303Glyfs*29)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.66523533del"	""	"pathogenic (recessive)"	"ACMG"
"0000819012"	"1"	"70"	"11"	"66294224"	"66294224"	"subst"	"8.12262E-6"	"00000"	"BBS1_000075"	"g.66294224C>T"	""	"{PMID:Hirano 2020:32451492}"	""	"BBS1 Exon 10-11del, p.R429X"	""	"Germline"	"?"	""	"0"	""	""	"g.66526753C>T"	""	"likely pathogenic"	""
"0000819024"	"2"	"70"	"11"	"66290927"	"66291353"	"del"	"0"	"00000"	"BBS1_000226"	"g.66290927_66291353del"	""	"{PMID:Hirano 2020:32451492}"	""	"BBS1 Exon 10-11del, p.R429X"	"double annotation in paper - either 10-11 or 9-11 exon deletion; c.831_1110del or c.724_1110del; SCV001244295; protein change metioned in paper is in-frame, when actually both DNA changes give frameshift"	"Germline"	"?"	""	"0"	""	""	"g.66523456_66523882del"	""	"likely pathogenic"	""
"0000819055"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Dineiro 2020:32483926}"	""	"BBS1 c.1169T>G, p.(Met390Arg)"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic"	"ACMG"
"0000819320"	"1"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BBS1, variant 1: c.1169T>G/p.M390R, variant 2: c.1169T>G/p.M390R"	"solved, homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000819321"	"1"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BBS1, variant 1: c.1169T>G/p.M390R, variant 2: c.1169T>G/p.M390R"	"solved, homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000819335"	"1"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BBS1, variant 1: c.1169T>G/p.M390R, variant 2: c.1169T>G/p.M390R"	"solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000819336"	"1"	"70"	"11"	"66283014"	"66283014"	"subst"	"8.12222E-6"	"00000"	"BBS1_000116"	"g.66283014C>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BBS1, variant 1: c.436C>T/p.R146*, variant 2: c.1169T>G/p.M390R"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.66515543C>T"	""	"likely pathogenic"	""
"0000819356"	"1"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BBS1, variant 1: c.1169T>G/p.M390R, variant 2: c.1169T>G/p.M390R"	"solved, homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000819410"	"1"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BBS1, variant 1: c.1169T>G/p.M390R, variant 2: c.1169T>G/p.M390R"	"solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000819424"	"1"	"70"	"11"	"66298461"	"66298463"	"del"	"0"	"00000"	"DRD4_000002"	"g.66298461_66298463del"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BBS1, variant 1: c.1570_1572del/p.N524del, variant 2: c.1570_1572del/p.N524del"	"solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.66530990_66530992del"	""	"likely pathogenic"	""
"0000819455"	"1"	"70"	"11"	"66283057"	"66283057"	"subst"	"2.84301E-5"	"00000"	"BBS1_000071"	"g.66283057G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BBS1, variant 1: c.479G>A/p.R160Q, variant 2: c.479G>A/p.R160Q"	"solved, homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.66515586G>A"	""	"likely pathogenic"	""
"0000819467"	"1"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BBS1, variant 1: c.1169T>G/p.M390R, variant 2: c.1169T>G/p.M390R"	"solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000819522"	"1"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BBS1, variant 1: c.1169T>G/p.M390R, variant 2: c.1608+1G>A/p.?"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000820115"	"1"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BBS1, variant 1: c.1169T>G/p.M390R, variant 2: c.1232_1235del/p.G411Efs*12"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000820183"	"1"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BBS1, variant 1: c.1169T>G/p.M390R, variant 2: c.1169T>G/p.M390R"	"solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000820323"	"1"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BBS1, variant 1: c.1169T>G/p.M390R, variant 2: c.1169T>G/p.M390R"	"solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000820516"	"1"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BBS1, variant 1: c.1169T>G/p.M390R, variant 2: c.1169T>G/p.M390R"	"solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000820541"	"1"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BBS1, variant 1: c.1169T>G/p.M390R, variant 2: c.952G>A/p.G318R"	"possibly solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000820546"	"1"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BBS1, variant 1: c.1169T>G/p.M390R, variant 2: c.41C>G/p.A14G"	"possibly solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000820555"	"1"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BBS1, variant 1: c.1169T>G/p.M390R, variant 2: c.1169T>G/p.M390R"	"solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000820618"	"1"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BBS1, variant 1: c.436C>T/p.R146*, variant 2: c.1169T>G/p.M390R"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000820663"	"1"	"70"	"11"	"66298500"	"66298500"	"subst"	"0"	"00000"	"BBS1_000232"	"g.66298500G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BBS1, variant 1: c.1169T>G/p.M390R, variant 2: c.1608+1G>A/p.?"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.66531029G>A"	""	"likely pathogenic"	""
"0000820817"	"1"	"70"	"11"	"66294171"	"66294174"	"del"	"0"	"00000"	"BBS1_000231"	"g.66294171_66294174del"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BBS1, variant 1: c.1169T>G/p.M390R, variant 2: c.1232_1235del/p.G411Efs*12"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.66526700_66526703del"	""	"likely pathogenic"	""
"0000820964"	"1"	"70"	"11"	"66291195"	"66291195"	"subst"	"0"	"00000"	"BBS1_000230"	"g.66291195G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BBS1, variant 1: c.1169T>G/p.M390R, variant 2: c.952G>A/p.G318R"	"possibly solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.66523724G>A"	""	"likely pathogenic"	""
"0000820967"	"1"	"70"	"11"	"66278171"	"66278171"	"subst"	"0"	"00000"	"BBS1_000229"	"g.66278171C>G"	""	"{PMID:Weisschuh 2020:32531858}"	""	"BBS1, variant 1: c.1169T>G/p.M390R, variant 2: c.41C>G/p.A14G"	"possibly solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.66510700C>G"	""	"likely pathogenic"	""
"0000821017"	"0"	"70"	"11"	"66282046"	"66282046"	"subst"	"1.62497E-5"	"00000"	"BBS1_000098"	"g.66282046C>A"	"1/64"	"{PMID:Liu 2020:32562694}"	""	"BBS1 c.329C>A, p.Pro110His"	"heterozygous"	"Germline/De novo (untested)"	"?"	"rs750288768"	"0"	""	""	"g.66514575C>A"	""	"likely pathogenic"	""
"0000821159"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Turro 2020:32581362}"	""	"BBS1 c.1169T>G, p.Met390Arg"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000821160"	"0"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Turro 2020:32581362}"	""	"BBS1 c.1169T>G, p.Met390Arg"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000821161"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Turro 2020:32581362}"	""	"BBS1 c.1169T>G, p.Met390Arg"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000821162"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Turro 2020:32581362}"	""	"BBS1 c.1169T>G, p.Met390Arg"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000821525"	"0"	"70"	"11"	"66299439"	"66299439"	"del"	"0"	"00000"	"BBS1_000233"	"g.66299439del"	""	"{PMID:Turro 2020:32581362}"	""	"BBS1 c.1713delA, p.Gly572AlafsTer7"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.66531968del"	""	"likely pathogenic"	""
"0000823250"	"3"	"50"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Hull 2020:32856788}"	""	"BBS1 nucleotide 1, protein 1:c.1169T>G, p.Met390Arg"	"homozygous, ACMG unclassified - no access to supplementary table 2"	"Germline"	"?"	""	"0"	""	""	"g.66526181T>G"	""	"VUS"	""
"0000826452"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Strong-2020:33369054}"	""	"c.1169 T > G"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000826994"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Thorsteinsson 2021:33851411}"	""	"BBS1 c.1169T>G, p.Met390Arg"	"heterozygous, causality unknown"	"Unknown"	"?"	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic"	""
"0000828511"	"1"	"50"	"11"	"66294192"	"66294192"	"subst"	"1.62435E-5"	"00000"	"BBS1_000234"	"g.66294192C>T"	""	"{PMID:Perea-Romero 2021:34448047}"	""	"BBS1,  c.1253C>T,  p.Pro418Leu, heterozygous"	""	"Germline"	"yes"	""	"0"	""	""	"g.66526721C>T"	""	"VUS"	"ACMG"
"0000828512"	"1"	"70"	"11"	"66277761"	"66300761"	"dup"	"0"	"00000"	"DRD4_000002"	"g.66277761_66300761dup"	""	"{PMID:Perea-Romero 2021:34448047}"	""	"chr11, g.66277761_66300761dup, arr([GRCh37] 11q13.2(66,277,760-66,300,760)x3), heterozygous"	""	"Germline"	"yes"	""	"0"	""	""	"g.66510290_66533290dup"	""	"likely pathogenic"	"ACMG"
"0000828534"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Perea-Romero 2021:34448047}"	""	"BBS1,  c.1169T>G,  p.Met390Arg, Triallelism"	""	"Germline"	"yes"	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic"	"ACMG"
"0000828535"	"3"	"90"	"11"	"66291105"	"66291105"	"subst"	"0"	"00000"	"BBS1_000210"	"g.66291105C>T"	""	"{PMID:Perea-Romero 2021:34448047}"	""	"BBS1,  c.951+58C>T,  p.?, Triallelism"	""	"Germline"	"yes"	""	"0"	""	""	"g.66523634C>T"	""	"pathogenic"	"ACMG"
"0000828537"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Perea-Romero 2021:34448047}"	""	"BBS1,  c.1169T>G,  p.Met390Arg, homozygous"	""	"Unknown"	"?"	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic"	"ACMG"
"0000828546"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Perea-Romero 2021:34448047}"	""	"BBS1,  c.1169T>G,  p.Met390Arg, homozygous"	""	"Germline"	"yes"	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic"	"ACMG"
"0000828557"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Perea-Romero 2021:34448047}"	""	"BBS1,  c.1169T>G,  p.Met390Arg, homozygous"	""	"Unknown"	"?"	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic"	"ACMG"
"0000829719"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00006"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Ellingford 2016:26872967}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic"	""
"0000829781"	"0"	"70"	"11"	"66299132"	"66299132"	"del"	"0"	"00000"	"BBS1_000238"	"g.66299132del"	""	"{PMID:Dockery 2017:29099798}"	""	"BBS1 c.1614delC, p.Leu539fs"	"only novel variants described in detail in the paper; original cohort contained over 750 patients from over 520 pedigrees,"	"Germline"	"yes"	""	"0"	""	""	"g.66531661del"	""	"likely pathogenic"	""
"0000829803"	"0"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Dockery 2017:29099798}"	""	"BBS1 c.1169T>G, p.Met390Arg"	"only novel variants described in detail in the paper; original cohort contained over 750 patients from over 520 pedigrees, no c.DNA annotation in paper for this variant, c. extrapolated from protein; missense mutations had to show segregation in pedigrees of at least 3 members, two of whom had to be affected."	"Germline"	"yes"	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000829992"	"1"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Mary-2019:30614526}"	""	"c.[1169T>G];[1125C>G]"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000829993"	"2"	"90"	"11"	"66293608"	"66293608"	"subst"	"0"	"00000"	"BBS1_000237"	"g.66293608C>G"	""	"{PMID:Mary-2019:30614526}"	""	"c.[1169T>G];[1125C>G]"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000829994"	"1"	"90"	"11"	"66297427"	"66297427"	"subst"	"0"	"00000"	"DRD4_000002"	"g.66297427A>G"	""	"{PMID:Mary-2019:30614526}"	""	"c.[1473+4A>G];[1473+4A>G]"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000829995"	"2"	"90"	"11"	"66297427"	"66297427"	"subst"	"0"	"00000"	"DRD4_000002"	"g.66297427A>G"	""	"{PMID:Mary-2019:30614526}"	""	"c.[1473+4A>G];[1473+4A>G]"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000829996"	"1"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Mary-2019:30614526}"	""	"c.[1169T>G];[1169T>G]"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000829997"	"2"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Mary-2019:30614526}"	""	"c.[1169T>G];[1169T>G]"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000829998"	"1"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Mary-2019:30614526}"	""	"c.[1169T>G];[1169T>G]"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000829999"	"2"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Mary-2019:30614526}"	""	"c.[1169T>G];[1169T>G]"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000830000"	"1"	"90"	"11"	"66293593"	"66299214"	"del"	"0"	"00000"	"BBS1_000236"	"g.66293593_66299214del"	""	"{PMID:Mary-2019:30614526}"	""	"c.[1111-?_1695+?del];[1169T>G]"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000830001"	"2"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Mary-2019:30614526}"	""	"c.[1111-?_1695+?del];[1169T>G]"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000830002"	"1"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Mary-2019:30614526}"	""	"c.[1169T>G];[1169T>G]"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000830003"	"2"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Mary-2019:30614526}"	""	"c.[1169T>G];[1169T>G]"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000830004"	"1"	"90"	"11"	"66291048"	"66291048"	"subst"	"4.06223E-6"	"00000"	"BBS1_000073"	"g.66291048G>A"	""	"{PMID:Mary-2019:30614526}"	""	"c.[951+1G>A];[1169T>G]"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000830005"	"2"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Mary-2019:30614526}"	""	"c.[951+1G>A];[1169T>G]"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000830006"	"1"	"90"	"11"	"66287087"	"66288848"	"del"	"0"	"00000"	"BBS1_000235"	"g.66287087_66288848del"	""	"{PMID:Mary-2019:30614526}"	""	"c.[592-?_830+?del];[436C>T]"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000830007"	"2"	"90"	"11"	"66283014"	"66283014"	"subst"	"8.12222E-6"	"00000"	"BBS1_000116"	"g.66283014C>T"	""	"{PMID:Mary-2019:30614526}"	""	"c.[592-?_830+?del];[436C>T]"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000830008"	"1"	"90"	"11"	"66287087"	"66288848"	"del"	"0"	"00000"	"BBS1_000235"	"g.66287087_66288848del"	""	"{PMID:Mary-2019:30614526}"	""	"c.[592-?_830+?del];[436C>T]"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000830009"	"2"	"90"	"11"	"66283014"	"66283014"	"subst"	"8.12222E-6"	"00000"	"BBS1_000116"	"g.66283014C>T"	""	"{PMID:Mary-2019:30614526}"	""	"c.[592-?_830+?del];[436C>T]"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000830010"	"1"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Mary-2019:30614526}"	""	"c.[1169T>G];[1694A>G]"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000830011"	"2"	"90"	"11"	"66299212"	"66299212"	"subst"	"0"	"00000"	"BBS1_000239"	"g.66299212A>G"	""	"{PMID:Mary-2019:30614526}"	""	"c.[1169T>G];[1694A>G]"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000830012"	"1"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Mary-2019:30614526}"	""	"c.[1169T>G];[1169T>G]"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000830013"	"2"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Mary-2019:30614526}"	""	"c.[1169T>G];[1169T>G]"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000830014"	"1"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Mary-2019:30614526}"	""	"c.[1169T>G];[1177C>T]"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000830015"	"2"	"90"	"11"	"66293660"	"66293660"	"subst"	"0"	"00000"	"BBS1_000180"	"g.66293660C>T"	""	"{PMID:Mary-2019:30614526}"	""	"c.[1169T>G];[1177C>T]"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000830016"	"1"	"90"	"11"	"66293652"	"66293652"	"subst"	"0"	"00000"	"DRD4_000002"	"g.66293652G>T"	""	"{PMID:Mary-2019:30614526}"	""	"c.[1169G>T];[1169G>T]"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000830017"	"2"	"90"	"11"	"66293652"	"66293652"	"subst"	"0"	"00000"	"DRD4_000002"	"g.66293652G>T"	""	"{PMID:Mary-2019:30614526}"	""	"c.[1169G>T];[1169G>T]"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000834080"	"11"	"50"	"11"	"66291288"	"66291288"	"subst"	"0"	"00006"	"BBS1_000240"	"g.66291288G>C"	""	"{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}"	""	"c.1045(exon11)G>C"	""	"Germline"	""	""	"0"	""	""	"g.66523817G>C"	""	"VUS"	"ACMG"
"0000834140"	"21"	"70"	"11"	"66297335"	"66297351"	"dup"	"0"	"00006"	"BBS1_000241"	"g.66297335_66297351dup"	""	"{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}"	""	"c.1376(exon14)_c.1377(exon14)insGCGCCTACGTGCTGCCC"	""	"Germline"	""	"rs1166459319"	"0"	""	""	"g.66529864_66529880dup"	""	"likely pathogenic"	"ACMG"
"0000841599"	"0"	"30"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00006"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Alvarez-Satta 2017:28502102}"	""	""	""	"Germline"	"no"	""	"0"	""	""	""	""	"likely benign"	""
"0000846793"	"3"	"70"	"11"	"66288847"	"66288847"	"subst"	"0"	"00000"	"BBS1_000207"	"g.66288847G>A"	""	"{PMID:Jacobson 2014:25074776}"	""	"BBS1 p.R277K"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.66521376G>A"	""	"likely pathogenic"	""
"0000846794"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Jacobson 2014:25074776}"	""	"BBS1 p.M390R"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000846795"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Jacobson 2014:25074776}"	""	"BBS1 p.M390R"	"no nucleotide annotation, extrapolated from protein and databases; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000846796"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Jacobson 2014:25074776}"	""	"BBS1 p.M390R"	"no nucleotide annotation, extrapolated from protein and databases; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000846797"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Jacobson 2014:25074776}"	""	"BBS1 p.M390R"	"no nucleotide annotation, extrapolated from protein and databases; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000846798"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Jacobson 2014:25074776}"	""	"BBS1 p.M390R"	"no nucleotide annotation, extrapolated from protein and databases; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000846799"	"3"	"70"	"1"	"216420460"	"216420460"	"subst"	"0.00094906"	"00000"	"USH2A_000016"	"g.216420460C>A"	""	"{PMID:Jacobson 2014:25074776}"	""	"USH2A p.C759F"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.216247118C>A"	""	"likely pathogenic"	""
"0000846800"	"3"	"70"	"1"	"216251489"	"216251489"	"subst"	"0"	"00000"	"USH2A_000236"	"g.216251489A>T"	""	"{PMID:Jacobson 2014:25074776}"	""	"USH2A p.Y1838Ter"	"no nucleotide annotation, extrapolated from protein and databases; also c.5514T>G possible; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.216078147A>T"	""	"likely pathogenic"	""
"0000846801"	"3"	"70"	"1"	"216420437"	"216420437"	"del"	"0.000737025"	"00000"	"USH2A_000001"	"g.216420437del"	""	"{PMID:Jacobson 2014:25074776}"	""	"USH2A p.E767fs"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.216247095del"	""	"likely pathogenic"	""
"0000846802"	"3"	"70"	"1"	"216420460"	"216420460"	"subst"	"0.00094906"	"00000"	"USH2A_000016"	"g.216420460C>A"	""	"{PMID:Jacobson 2014:25074776}"	""	"USH2A p.C759F"	"no nucleotide annotation, extrapolated from protein and databases; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.216247118C>A"	""	"likely pathogenic"	""
"0000846803"	"3"	"70"	"1"	"216420437"	"216420437"	"del"	"0.000737025"	"00000"	"USH2A_000001"	"g.216420437del"	""	"{PMID:Jacobson 2014:25074776}"	""	"USH2A p.E767fs"	"no nucleotide annotation, extrapolated from protein and databases; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.216247095del"	""	"likely pathogenic"	""
"0000846806"	"3"	"70"	"11"	"0"	"0"	""	"0"	"00000"	"DRD4_000002"	"g.?"	""	"{PMID:Jacobson 2014:25074776}"	""	"BBS1 p.I1389 del"	"no nucleotide annotation, no possibility of extrapolation from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000846807"	"3"	"70"	"11"	"66297397"	"66297397"	"subst"	"0"	"00000"	"BBS1_000076"	"g.66297397C>T"	""	"{PMID:Jacobson 2014:25074776}"	""	"BBS1 p.R483Ter"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.66529926C>T"	""	"likely pathogenic"	""
"0000846808"	"3"	"70"	"1"	"215901574"	"215901574"	"subst"	"9.35218E-5"	"00000"	"USH2A_000159"	"g.215901574C>T"	""	"{PMID:Jacobson 2014:25074776}"	""	"USH2A p.W3955Ter"	"no nucleotide annotation, extrapolated from protein and databases; also c.11865G>A possible; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.215728232C>T"	""	"likely pathogenic"	""
"0000846809"	"3"	"70"	"1"	"216173847"	"216173847"	"subst"	"0"	"00000"	"USH2A_000418"	"g.216173847C>A"	""	"{PMID:Jacobson 2014:25074776}"	""	"USH2A p.C2128F"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.216000505C>A"	""	"likely pathogenic"	""
"0000846810"	"3"	"70"	"1"	"216497627"	"216497627"	"del"	"0"	"00000"	"USH2A_000199"	"g.216497627del"	""	"{PMID:Jacobson 2014:25074776}"	""	"USH2A p.N405fs"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.216324285del"	""	"likely pathogenic"	""
"0000853096"	"0"	"70"	"11"	"66287067"	"66287067"	"subst"	"8.12678E-6"	"02327"	"BBS1_000165"	"g.66287067A>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000862642"	"0"	"90"	"11"	"66291041"	"66291042"	"ins"	"0"	"02330"	"BBS1_000242"	"g.66291041_66291042insACAAGGTGCACCACACCACAAGGTGCAC"	""	""	""	"BBS1(NM_024649.5):c.945_946insACAAGGTGCACCACACCACAAGGTGCAC (p.H316Tfs*54)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000862643"	"0"	"50"	"11"	"66293630"	"66293630"	"subst"	"0.000154321"	"01943"	"BBS1_000243"	"g.66293630C>T"	""	""	""	"BBS1(NM_024649.4):c.1147C>T (p.R383W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000871262"	"1"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Brunbjerg Hey 2018:31283077}"	""	"BBS1 c.1169T > G, p. (Met390Arg)"	"compound heterozygous in patient"	"In vitro (cloned)"	"?"	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic (recessive)"	""
"0000871263"	"2"	"70"	"11"	"66293618"	"66293618"	"subst"	"0"	"00000"	"BBS1_000246"	"g.66293618G>C"	""	"{PMID:Brunbjerg Hey 2018:31283077}"	""	"BBS1 c.1135G > C, p.(Gly370Arg)"	"compound heterozygous in patient"	"In vitro (cloned)"	"?"	""	"0"	""	""	"g.66526147G>C"	""	"likely pathogenic (recessive)"	""
"0000871264"	"21"	"70"	"11"	"66278562"	"66278562"	"subst"	"0"	"00000"	"BBS1_000244"	"g.66278562T>G"	""	"{PMID:Katagiri 2020:31997113}"	""	"BBS1 c.124+2T>G, p.N17AfsX56"	"compound heterozygous; exon 2 skipping"	"Germline"	"yes"	""	"0"	""	""	"g.66511091T>G"	""	"likely pathogenic (recessive)"	""
"0000871265"	"11"	"70"	"11"	"66287221"	"66287221"	"subst"	"0"	"00000"	"BBS1_000245"	"g.66287221T>G"	""	"{PMID:Katagiri 2020:31997113}"	""	"BBS1 c.723+2T>G, p.T198_K241del"	"compound heterozygous; exon 8 skipping"	"Germline"	"yes"	""	"0"	""	""	"g.66519750T>G"	""	"likely pathogenic (recessive)"	""
"0000871267"	"0"	"70"	"11"	"0"	"0"	""	"0"	"00000"	"DRD4_000002"	"g.?"	""	"{PMID:Delvallee 2021:33169370}"	""	"BBS1 c.1214_1215ins[MT113356], p.(Ala406Glnfs*47)"	"compound heterozygous; a retrotranspozon insertion"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"pathogenic (recessive)"	""
"0000871268"	"0"	"70"	"11"	"0"	"0"	""	"0"	"00000"	"DRD4_000002"	"g.?"	""	"{PMID:Delvallee 2021:33169370}"	""	"BBS1 c.1214_1215ins[MT113356], p.(Ala406Glnfs*47)"	"compound heterozygous; a retrotranspozon insertion"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"pathogenic (recessive)"	""
"0000871269"	"0"	"70"	"11"	"0"	"0"	""	"0"	"00000"	"DRD4_000002"	"g.?"	""	"{PMID:Delvallee 2021:33169370}"	""	"BBS1 c.1214_1215ins[MT113356], p.(Ala406Glnfs*47)"	"compound heterozygous; a retrotranspozon insertion"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"pathogenic (recessive)"	""
"0000871270"	"0"	"70"	"11"	"0"	"0"	""	"0"	"00000"	"DRD4_000002"	"g.?"	""	"{PMID:Delvallee 2021:33169370}"	""	"BBS1 c.1214_1215ins[MT113356], p.(Ala406Glnfs*47)"	"compound heterozygous; a retrotranspozon insertion"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"pathogenic (recessive)"	""
"0000871271"	"0"	"70"	"11"	"0"	"0"	""	"0"	"00000"	"DRD4_000002"	"g.?"	""	"{PMID:Delvallee 2021:33169370}"	""	"BBS1 c.1214_1215ins[MT113356], p.(Ala406Glnfs*47)"	"compound heterozygous; a retrotranspozon insertion"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"pathogenic (recessive)"	""
"0000871272"	"0"	"70"	"11"	"0"	"0"	""	"0"	"00000"	"DRD4_000002"	"g.?"	""	"{PMID:Delvallee 2021:33169370}"	""	"BBS1 c.1214_1215ins[MT113356], p.(Ala406Glnfs*47)"	"compound heterozygous; a retrotranspozon insertion"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"pathogenic (recessive)"	""
"0000871273"	"0"	"70"	"11"	"0"	"0"	""	"0"	"00000"	"DRD4_000002"	"g.?"	""	"{PMID:Delvallee 2021:33169370}"	""	"BBS1 c.1214_1215ins[MT113356], p.(Ala406Glnfs*47)"	"compound heterozygous; a retrotranspozon insertion"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"pathogenic (recessive)"	""
"0000871274"	"0"	"70"	"11"	"0"	"0"	""	"0"	"00000"	"DRD4_000002"	"g.?"	""	"{PMID:Delvallee 2021:33169370}"	""	"BBS1 c.1214_1215ins[MT113356], p.(Ala406Glnfs*47)"	"compound heterozygous; a retrotranspozon insertion"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"pathogenic (recessive)"	""
"0000871275"	"0"	"70"	"11"	"0"	"0"	""	"0"	"00000"	"DRD4_000002"	"g.?"	""	"{PMID:Delvallee 2021:33169370}"	""	"BBS1 c.1214_1215ins[MT113356], p.(Ala406Glnfs*47)"	"compound heterozygous; a retrotranspozon insertion"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"pathogenic (recessive)"	""
"0000871276"	"0"	"70"	"11"	"0"	"0"	""	"0"	"00000"	"DRD4_000002"	"g.?"	""	"{PMID:Delvallee 2021:33169370}"	""	"BBS1 c.1214_1215ins[MT113356], p.(Ala406Glnfs*47)"	"compound heterozygous; a retrotranspozon insertion"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"pathogenic (recessive)"	""
"0000871277"	"0"	"70"	"11"	"0"	"0"	""	"0"	"00000"	"DRD4_000002"	"g.?"	""	"{PMID:Delvallee 2021:33169370}"	""	"BBS1 c.1214_1215ins[MT113356], p.(Ala406Glnfs*47)"	"compound heterozygous; a retrotranspozon insertion"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"pathogenic (recessive)"	""
"0000871278"	"0"	"70"	"11"	"0"	"0"	""	"0"	"00000"	"DRD4_000002"	"g.?"	""	"{PMID:Delvallee 2021:33169370}"	""	"BBS1 c.1214_1215ins[MT113356], p.(Ala406Glnfs*47)"	"compound heterozygous; a retrotranspozon insertion"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"pathogenic (recessive)"	""
"0000871279"	"0"	"70"	"11"	"0"	"0"	""	"0"	"00000"	"DRD4_000002"	"g.?"	""	"{PMID:Delvallee 2021:33169370}"	""	"BBS1 c.1214_1215ins[MT113356], p.(Ala406Glnfs*47)"	"compound heterozygous; a retrotranspozon insertion"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"pathogenic (recessive)"	""
"0000871280"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Delvallee 2021:33169370}"	""	"BBS1 c.1169T>G, p.(Met390Arg)"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic (recessive)"	""
"0000871281"	"0"	"90"	"12"	"66293652"	"66293652"	"subst"	"0"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Delvallee 2021:33169370}"	""	"BBS1 c.1169T>G, p.(Met390Arg)"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic (recessive)"	""
"0000871282"	"0"	"90"	"13"	"66293652"	"66293652"	"subst"	"0"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Delvallee 2021:33169370}"	""	"BBS1 c.1169T>G, p.(Met390Arg)"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic (recessive)"	""
"0000871283"	"0"	"90"	"14"	"66293652"	"66293652"	"subst"	"0"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Delvallee 2021:33169370}"	""	"BBS1 c.1169T>G, p.(Met390Arg)"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic (recessive)"	""
"0000871284"	"0"	"90"	"15"	"66293652"	"66293652"	"subst"	"0"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Delvallee 2021:33169370}"	""	"BBS1 c.1169T>G, p.(Met390Arg)"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic (recessive)"	""
"0000871285"	"0"	"90"	"16"	"66293652"	"66293652"	"subst"	"0"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Delvallee 2021:33169370}"	""	"BBS1 c.1169T>G, p.(Met390Arg)"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic (recessive)"	""
"0000871286"	"0"	"90"	"17"	"66293652"	"66293652"	"subst"	"0"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Delvallee 2021:33169370}"	""	"BBS1 c.1169T>G, p.(Met390Arg)"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic (recessive)"	""
"0000871287"	"0"	"90"	"18"	"66293652"	"66293652"	"subst"	"0"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Delvallee 2021:33169370}"	""	"BBS1 c.1169T>G, p.(Met390Arg)"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic (recessive)"	""
"0000871288"	"0"	"90"	"19"	"66293652"	"66293652"	"subst"	"0"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Delvallee 2021:33169370}"	""	"BBS1 c.1169T>G, p.(Met390Arg)"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic (recessive)"	""
"0000871296"	"0"	"90"	"19"	"66293652"	"66293652"	"subst"	"0"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Delvallee 2021:33169370}"	""	"BBS1 c.1169T>G, p.(Met390Arg)"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic (recessive)"	""
"0000871297"	"0"	"90"	"19"	"0"	"0"	""	"0"	"00000"	"NPHS1_000138"	"g.?"	""	"{PMID:Delvallee 2021:33169370}"	""	"BBS1 c.(159+1_160-1)_(1110+1_1111-1), p.(Leu54_Pro370del)"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"pathogenic (recessive)"	""
"0000873450"	"0"	"70"	"11"	"66299498"	"66299498"	"subst"	"0"	"00000"	"BBS1_000247"	"g.66299498C>T"	"109"	"{PMID:Sun 2018:30076350}"	""	"BBS1(NM_024649.4):c.1772C>T(p.A591V)/c.1121C>G(p.T374S)"	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.66532027C>T"	""	"likely pathogenic"	""
"0000873451"	"0"	"70"	"11"	"66293604"	"66293604"	"subst"	"8.12156E-6"	"00000"	"BBS1_000106"	"g.66293604C>G"	"109"	"{PMID:Sun 2018:30076350}"	""	"BBS1(NM_024649.4):c.1772C>T(p.A591V)/c.1121C>G(p.T374S)"	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.66526133C>G"	""	"likely pathogenic"	""
"0000878680"	"3"	"70"	"11"	"66291105"	"66291105"	"subst"	"0"	"00000"	"BBS1_000210"	"g.66291105C>T"	""	"{PMID:Aldahmesh 2014:24488770}"	""	"BBS1  c.951+58C>T, p.(Gly318Valfs*62)"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.66523634C>T"	""	"likely pathogenic"	""
"0000878681"	"3"	"70"	"11"	"66291105"	"66291105"	"subst"	"0"	"00000"	"BBS1_000210"	"g.66291105C>T"	""	"{PMID:Aldahmesh 2014:24488770}"	""	"BBS1 c.951+58C>T, p.(Gly318Valfs*62)"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.66523634C>T"	""	"likely pathogenic"	""
"0000879958"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Li 2004:15137946}"	""	"BBS1 M390R (triallelic)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000879960"	"3"	"70"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Li 2004:15137946}"	""	"BBS1 M390R (triallelic)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.66526181T>G"	""	"likely pathogenic"	""
"0000880157"	"3"	"90"	"11"	"66283014"	"66283014"	"subst"	"8.12222E-6"	"00006"	"BBS1_000116"	"g.66283014C>T"	""	"{PMID:Smaoui 2006:16877420}"	""	"448C>T (Arg146Stop)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000880168"	"0"	"10"	"11"	"66282095"	"66282095"	"subst"	"0.225152"	"00006"	"BBS1_000061"	"g.66282095G>A"	"6/19 families BBS"	"{PMID:Smaoui 2006:16877420}"	""	""	""	"Germline"	""	"rs2298806"	"0"	""	""	"g.66514624G>A"	""	"benign"	""
"0000880169"	"0"	"10"	"11"	"66288745"	"66288745"	"subst"	"0"	"00006"	"BBS1_000248"	"g.66288745G>C"	"2/19 families BBS"	"{PMID:Smaoui 2006:16877420}"	""	""	""	"Germline"	""	"rs10896125"	"0"	""	""	"g.66521274G>C"	""	"benign"	""
"0000880170"	"0"	"10"	"11"	"66291353"	"66291353"	"subst"	"8.17728E-6"	"00006"	"BBS1_000145"	"g.66291353G>A"	"2/19 families BBS"	"{PMID:Smaoui 2006:16877420}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66523882G>A"	""	"benign"	""
"0000880171"	"0"	"10"	"11"	"66293629"	"66293629"	"subst"	"0"	"00006"	"BBS1_000249"	"g.66293629G>C"	"1/19 families BBS"	"{PMID:Smaoui 2006:16877420}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66526158G>C"	""	"benign"	""
"0000880172"	"0"	"10"	"11"	"66297363"	"66297363"	"subst"	"0.204643"	"00006"	"BBS1_000062"	"g.66297363C>T"	"3/19 families BBS"	"{PMID:Smaoui 2006:16877420}"	""	""	""	"Germline"	""	"rs3816492"	"0"	""	""	"g.66529892C>T"	""	"benign"	""
"0000880173"	"0"	"10"	"11"	"66299515"	"66299515"	"subst"	"0.54783"	"00006"	"BBS1_000077"	"g.66299515A>G"	"2/19 families BBS"	"{PMID:Smaoui 2006:16877420}"	""	"NM_024649:c.1779+7A>G"	""	"Germline"	""	"rs8432"	"0"	""	""	"g.66532044A>G"	""	"benign"	""
"0000890086"	"0"	"30"	"11"	"66278577"	"66278577"	"subst"	"2.03028E-5"	"02330"	"BBS1_000250"	"g.66278577A>G"	""	""	""	"BBS1(NM_024649.5):c.124+17A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000890087"	"0"	"50"	"11"	"66281952"	"66281952"	"subst"	"0.000755803"	"02325"	"BBS1_000113"	"g.66281952G>A"	""	""	""	"BBS1(NM_024649.4):c.235G>A (p.E79K), BBS1(NM_024649.5):c.235G>A (p.E79K, p.(Glu79Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000890088"	"0"	"30"	"11"	"66281960"	"66281960"	"subst"	"8.53055E-5"	"02326"	"BBS1_000070"	"g.66281960G>A"	""	""	""	"BBS1(NM_024649.5):c.243G>A (p.P81=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000890089"	"0"	"30"	"11"	"66282162"	"66282162"	"subst"	"4.5783E-5"	"02330"	"BBS1_000251"	"g.66282162C>T"	""	""	""	"BBS1(NM_024649.5):c.432+13C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000890090"	"0"	"30"	"11"	"66288751"	"66288751"	"subst"	"6.90322E-5"	"02326"	"BBS1_000220"	"g.66288751C>T"	""	""	""	"BBS1(NM_024649.5):c.734C>T (p.P245L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000890091"	"0"	"30"	"11"	"66291278"	"66291278"	"subst"	"2.03706E-5"	"02326"	"BBS1_000137"	"g.66291278C>T"	""	""	""	"BBS1(NM_024649.5):c.1035C>T (p.A345=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000890092"	"0"	"30"	"11"	"66291279"	"66291279"	"subst"	"0.000965865"	"02326"	"BBS1_000125"	"g.66291279G>A"	""	""	""	"BBS1(NM_024649.4):c.1036G>A (p.V346I), BBS1(NM_024649.5):c.1036G>A (p.V346I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000905975"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Zhu 2022:35456422}"	""	"BBS1 c.1169T>G, p.(Met390Arg)"	"homozygous, probably causal"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic"	"ACMG"
"0000905976"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00000"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Zhu 2022:35456422}"	""	"BBS1 c.1169T>G, p.(Met390Arg)"	"homozygous, probably causal"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic"	"ACMG"
"0000909975"	"1"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00006"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic (recessive)"	""
"0000913664"	"0"	"30"	"11"	"66283312"	"66283312"	"subst"	"4.06072E-6"	"02326"	"BBS1_000252"	"g.66283312C>G"	""	""	""	"BBS1(NM_024649.5):c.519-20C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000915972"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"04436"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1169T>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000915995"	"1"	"90"	"11"	"66288847"	"66288847"	"subst"	"0"	"04436"	"BBS1_000207"	"g.66288847G>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.830G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000915996"	"2"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"04436"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1169T>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916415"	"3"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"04436"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1169T>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916594"	"1"	"50"	"11"	"66291009"	"66291009"	"subst"	"4.06088E-6"	"04436"	"BBS1_000253"	"g.66291009G>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.913G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000916595"	"2"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"04436"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1169T>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000925476"	"0"	"30"	"11"	"66294277"	"66294277"	"subst"	"0.000407425"	"02330"	"BBS1_000130"	"g.66294277C>T"	""	""	""	"BBS1(NM_024649.4):c.1338C>T (p.T446=), BBS1(NM_024649.5):c.1338C>T (p.T446=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000925477"	"0"	"90"	"11"	"66294278"	"66294278"	"subst"	"3.667E-5"	"02329"	"BBS1_000146"	"g.66294278G>A"	""	""	""	"BBS1(NM_024649.5):c.1339G>A (p.A447T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000925478"	"0"	"90"	"11"	"66297397"	"66297397"	"subst"	"0"	"02329"	"BBS1_000076"	"g.66297397C>T"	""	""	""	"BBS1(NM_024649.5):c.1447C>T (p.(Arg483Ter), p.R483*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000949762"	"0"	"50"	"11"	"66294252"	"66294252"	"subst"	"8.5336E-5"	"01804"	"BBS1_000085"	"g.66294252C>G"	""	""	""	"BBS1(NM_024649.4):c.1313C>G (p.T438R, p.(Thr438Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000958040"	"3"	"70"	"11"	"66283057"	"66283057"	"subst"	"2.84301E-5"	"00006"	"BBS1_000071"	"g.66283057G>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PP3, PM2, PP5_STRONG"	"Germline"	""	""	"0"	""	""	"g.66515586G>A"	"370228"	"likely pathogenic (recessive)"	"ACMG"
"0000958538"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00006"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PP5_STRONG, PS4_MODERATE"	"Germline"	""	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic (recessive)"	"ACMG"
"0000958844"	"0"	"70"	"11"	"66283339"	"66283339"	"subst"	"0"	"00006"	"BBS1_000254"	"g.66283339C>T"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1"	"Germline"	""	""	"0"	""	""	"g.66515868C>T"	""	"likely pathogenic (recessive)"	"ACMG"
"0000958948"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00006"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PP5_STRONG, PS4_MODERATE"	"Germline"	""	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic (recessive)"	"ACMG"
"0000958966"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00006"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PP5_STRONG, PS4_MODERATE"	"Germline"	""	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic (recessive)"	"ACMG"
"0000959386"	"0"	"50"	"11"	"66287166"	"66287166"	"subst"	"4.06448E-6"	"00006"	"BBS1_000140"	"g.66287166G>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PP3, PM2, PP5"	"Germline"	""	""	"0"	""	""	"g.66519695G>A"	""	"VUS"	"ACMG"
"0000959410"	"0"	"50"	"11"	"66287166"	"66287166"	"subst"	"4.06448E-6"	"00006"	"BBS1_000140"	"g.66287166G>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PP3, PM2, PP5"	"Germline"	""	""	"0"	""	""	"g.66519695G>A"	""	"VUS"	"ACMG"
"0000979767"	"0"	"30"	"11"	"66294277"	"66294277"	"subst"	"0.000407425"	"02326"	"BBS1_000130"	"g.66294277C>T"	""	""	""	"BBS1(NM_024649.4):c.1338C>T (p.T446=), BBS1(NM_024649.5):c.1338C>T (p.T446=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000999329"	"0"	"90"	"11"	"66290967"	"66290967"	"subst"	"0"	"01804"	"BBS1_000149"	"g.66290967C>T"	""	""	""	"BBS1(NM_024649.4):c.871C>T (p.Q291*, p.(Gln291*))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000999330"	"0"	"50"	"11"	"66307188"	"66307188"	"subst"	"3.32392E-5"	"01804"	"BBS1_000255"	"g.66307188G>A"	""	""	""	"ZDHHC24(NM_207340.1):c.667C>T (p.(Arg223Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001026051"	"0"	"50"	"11"	"66291000"	"66291000"	"subst"	"4.06072E-6"	"01943"	"BBS1_000256"	"g.66291000C>A"	""	""	""	"BBS1(NM_024649.4):c.904C>A (p.L302I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001029385"	"0"	"90"	"11"	"66299420"	"66299420"	"subst"	"0"	"03779"	"BBS1_000257"	"g.66299420A>G"	""	""	""	""	""	"CLASSIFICATION record"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0001030095"	"3"	"50"	"11"	"66283015"	"66283015"	"subst"	"0"	"04333"	"BBS1_000258"	"g.66283015G>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.66515544G>C"	""	"VUS"	""
"0001038622"	"0"	"50"	"11"	"66281892"	"66281892"	"subst"	"2.04075E-5"	"01804"	"BBS1_000259"	"g.66281892C>G"	""	""	""	"BBS1(NM_024649.5):c.175C>G (p.(Leu59Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001038623"	"0"	"50"	"11"	"66288768"	"66288768"	"subst"	"8.1211E-6"	"01804"	"BBS1_000148"	"g.66288768C>G"	""	""	""	"BBS1(NM_024649.4):c.751C>G (p.L251V), BBS1(NM_024649.5):c.751C>G (p.(Leu251Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001038624"	"0"	"50"	"11"	"66288802"	"66288802"	"subst"	"0"	"01804"	"BBS1_000260"	"g.66288802G>C"	""	""	""	"BBS1(NM_024649.5):c.785G>C (p.(Arg262Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001038625"	"0"	"50"	"11"	"66307241"	"66307241"	"subst"	"2.49099E-5"	"01804"	"BBS1_000261"	"g.66307241G>A"	""	""	""	"ZDHHC24(NM_207340.3):c.614C>T (p.(Ala205Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001053940"	"0"	"50"	"11"	"66278149"	"66278149"	"subst"	"0"	"01804"	"BBS1_000063"	"g.66278149T>A"	""	""	""	"BBS1(NM_024649.5):c.19T>A (p.(Ser7Thr), p.S7T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001053941"	"0"	"70"	"11"	"66278482"	"66278482"	"subst"	"1.21817E-5"	"01804"	"BBS1_000262"	"g.66278482A>C"	""	""	""	"BBS1(NM_024649.5):c.48-2A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001053942"	"0"	"50"	"11"	"66281911"	"66281911"	"subst"	"0"	"01804"	"BBS1_000263"	"g.66281911A>G"	""	""	""	"BBS1(NM_024649.5):c.194A>G (p.(Gln65Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001053943"	"0"	"50"	"11"	"66282016"	"66282016"	"subst"	"1.21843E-5"	"01804"	"BBS1_000264"	"g.66282016G>A"	""	""	""	"BBS1(NM_024649.5):c.299G>A (p.(Arg100Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001053944"	"0"	"90"	"11"	"66297397"	"66297397"	"subst"	"0"	"01804"	"BBS1_000076"	"g.66297397C>T"	""	""	""	"BBS1(NM_024649.5):c.1447C>T (p.(Arg483Ter), p.R483*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001058485"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00006"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Retterer 2016:26633542}"	""	""	"variants reported seperately, unknown if mono-allelic or bi-allelic"	"Unknown"	""	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic"	""
"0001058486"	"0"	"90"	"11"	"66293652"	"66293652"	"subst"	"0.0015233"	"00006"	"BBS1_000001"	"g.66293652T>G"	""	"{PMID:Retterer 2016:26633542}"	""	""	"variants reported seperately, unknown if mono-allelic or bi-allelic"	"Unknown"	""	""	"0"	""	""	"g.66526181T>G"	""	"pathogenic"	""
"0001059381"	"0"	"90"	"11"	"66278675"	"66283203"	"del"	"0"	"00006"	"BBS1_000265"	"g.(66278561_66278675)_(66283203_66283331)del"	""	"{PMID:Retterer 2016:26633542}"	""	"del ex3-6"	""	"Unknown"	""	""	"0"	""	""	"g.(66511090_66511204)_(66515732_66515860)del"	""	"pathogenic"	""
"0001065521"	"0"	"50"	"11"	"66299462"	"66299462"	"subst"	"0"	"01804"	"BBS1_000266"	"g.66299462G>T"	""	""	""	"BBS1(NM_024649.5):c.1736G>T (p.(Ser579Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes BBS1
## Count = 751
"{{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}}"
"0000000161"	"00000196"	"50"	"378"	"0"	"378"	"0"	"c.378G>A"	"r.(=)"	"p.(=)"	"4"
"0000000162"	"00000196"	"50"	"1413"	"0"	"1413"	"0"	"c.1413C>T"	"r.(=)"	"p.(=)"	"14"
"0000019485"	"00000196"	"95"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"12"
"0000019486"	"00000196"	"95"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"12"
"0000129978"	"00000196"	"99"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"12"
"0000141622"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"12"
"0000246980"	"00000196"	"30"	"1719"	"0"	"1719"	"0"	"c.1719A>G"	"r.(?)"	"p.(Gln573=)"	""
"0000247014"	"00000196"	"50"	"1660"	"0"	"1660"	"0"	"c.1660A>T"	"r.(?)"	"p.(Ser554Cys)"	""
"0000247063"	"00000196"	"50"	"533"	"0"	"533"	"0"	"c.533A>G"	"r.(?)"	"p.(Glu178Gly)"	""
"0000247862"	"00000196"	"10"	"1789"	"0"	"1789"	"0"	"c.*7A>G"	"r.(=)"	"p.(=)"	""
"0000250644"	"00000196"	"10"	"1789"	"0"	"1789"	"0"	"c.*7A>G"	"r.(=)"	"p.(=)"	""
"0000252996"	"00000196"	"10"	"1789"	"0"	"1789"	"0"	"c.*7A>G"	"r.(=)"	"p.(=)"	""
"0000254174"	"00000196"	"30"	"1719"	"0"	"1719"	"0"	"c.1719A>G"	"r.(?)"	"p.(Gln573=)"	""
"0000256101"	"00000196"	"50"	"1690"	"0"	"1690"	"0"	"c.1690A>C"	"r.(?)"	"p.(Ile564Leu)"	""
"0000258580"	"00000196"	"10"	"1076"	"0"	"1076"	"0"	"c.1076G>A"	"r.(?)"	"p.(Arg359His)"	""
"0000258581"	"00000196"	"10"	"1176"	"0"	"1176"	"0"	"c.1176T>C"	"r.(?)"	"p.(Thr392=)"	""
"0000258582"	"00000196"	"70"	"1285"	"0"	"1285"	"0"	"c.1285C>T"	"r.(?)"	"p.(Arg429Ter)"	""
"0000258584"	"00000196"	"10"	"1474"	"-14"	"1474"	"-14"	"c.1474-14C>T"	"r.(=)"	"p.(=)"	""
"0000258585"	"00000196"	"10"	"24"	"0"	"24"	"0"	"c.24T>C"	"r.(?)"	"p.(Asp8=)"	""
"0000258586"	"00000196"	"10"	"479"	"20"	"479"	"20"	"c.479+20T>C"	"r.(=)"	"p.(=)"	""
"0000258587"	"00000196"	"90"	"589"	"0"	"589"	"0"	"c.589C>T"	"r.(?)"	"p.(Gln197Ter)"	""
"0000258588"	"00000196"	"50"	"887"	"0"	"887"	"0"	"c.887T>C"	"r.(?)"	"p.(Ile296Thr)"	""
"0000259226"	"00000196"	"10"	"724"	"-8"	"724"	"-8"	"c.724-8G>C"	"r.(=)"	"p.(=)"	""
"0000261380"	"00000196"	"10"	"1349"	"0"	"1349"	"0"	"c.1349G>A"	"r.(?)"	"p.(Arg450Gln)"	""
"0000261381"	"00000196"	"10"	"1448"	"0"	"1448"	"0"	"c.1448G>A"	"r.(?)"	"p.(Arg483Gln)"	""
"0000261382"	"00000196"	"30"	"1695"	"10"	"1695"	"10"	"c.1695+10G>A"	"r.(=)"	"p.(=)"	""
"0000261383"	"00000196"	"30"	"19"	"0"	"19"	"0"	"c.19T>A"	"r.(?)"	"p.(Ser7Thr)"	""
"0000261384"	"00000196"	"10"	"24"	"0"	"24"	"0"	"c.24T>C"	"r.(?)"	"p.(Asp8=)"	""
"0000261385"	"00000196"	"10"	"316"	"0"	"316"	"0"	"c.316C>G"	"r.(?)"	"p.(Leu106Val)"	""
"0000261386"	"00000196"	"90"	"363"	"0"	"363"	"0"	"c.363C>A"	"r.(?)"	"p.(Tyr121Ter)"	""
"0000261387"	"00000196"	"30"	"591"	"9"	"591"	"9"	"c.591+9C>G"	"r.(=)"	"p.(=)"	""
"0000261388"	"00000196"	"10"	"724"	"-8"	"724"	"-8"	"c.724-8G>C"	"r.(=)"	"p.(=)"	""
"0000263549"	"00000196"	"30"	"1020"	"0"	"1020"	"0"	"c.1020C>G"	"r.(?)"	"p.(Ser340=)"	""
"0000263550"	"00000196"	"50"	"1313"	"0"	"1313"	"0"	"c.1313C>G"	"r.(?)"	"p.(Thr438Arg)"	""
"0000263551"	"00000196"	"10"	"1413"	"0"	"1413"	"0"	"c.1413C>T"	"r.(?)"	"p.(Leu471=)"	""
"0000263552"	"00000196"	"30"	"1585"	"0"	"1585"	"0"	"c.1585T>G"	"r.(?)"	"p.(Ser529Ala)"	""
"0000263553"	"00000196"	"30"	"360"	"0"	"360"	"0"	"c.360C>T"	"r.(?)"	"p.(Pro120=)"	""
"0000263554"	"00000196"	"10"	"724"	"-8"	"724"	"-8"	"c.724-8G>C"	"r.(=)"	"p.(=)"	""
"0000275498"	"00000196"	"10"	"-1555"	"0"	"-1555"	"0"	"c.-1555G>A"	"r.(?)"	"p.(=)"	""
"0000322332"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000338593"	"00000196"	"10"	"724"	"-8"	"724"	"-8"	"c.724-8G>C"	"r.(=)"	"p.(=)"	""
"0000338594"	"00000196"	"90"	"951"	"1"	"951"	"1"	"c.951+1G>A"	"r.spl?"	"p.?"	""
"0000340368"	"00000196"	"10"	"378"	"0"	"378"	"0"	"c.378G>A"	"r.(?)"	"p.(Leu126=)"	""
"0000340369"	"00000196"	"10"	"1413"	"0"	"1413"	"0"	"c.1413C>T"	"r.(?)"	"p.(Leu471=)"	""
"0000340934"	"00000196"	"30"	"243"	"0"	"243"	"0"	"c.243G>A"	"r.(?)"	"p.(Pro81=)"	""
"0000342974"	"00000196"	"90"	"1447"	"0"	"1447"	"0"	"c.1447C>T"	"r.(?)"	"p.(Arg483Ter)"	""
"0000347830"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000349897"	"00000196"	"90"	"363"	"0"	"363"	"0"	"c.363C>A"	"r.(?)"	"p.(Tyr121Ter)"	""
"0000358169"	"00000196"	"90"	"479"	"0"	"479"	"0"	"c.479G>A"	"r.(?)"	"p.(Arg160Gln)"	"6"
"0000358170"	"00000196"	"90"	"479"	"0"	"479"	"0"	"c.479G>A"	"r.(?)"	"p.(Arg160Gln)"	"6"
"0000358171"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"12"
"0000438861"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000438862"	"00000196"	"90"	"1214"	"0"	"1215"	"0"	"c.1214_1215ins[MH395756;1198_1214]"	"r.1214-1215ins?"	"p.Ala406Glnfs*44"	""
"0000477025"	"00000196"	"50"	"75"	"0"	"75"	"0"	"c.75T>A"	"r.(?)"	"p.(Asp25Glu)"	""
"0000477026"	"00000196"	"50"	"163"	"0"	"163"	"0"	"c.163G>A"	"r.(?)"	"p.(Val55Met)"	""
"0000477027"	"00000196"	"50"	"329"	"0"	"329"	"0"	"c.329C>A"	"r.(?)"	"p.(Pro110His)"	""
"0000477028"	"00000196"	"50"	"437"	"0"	"437"	"0"	"c.437G>A"	"r.(?)"	"p.(Arg146Gln)"	""
"0000477029"	"00000196"	"50"	"472"	"0"	"472"	"0"	"c.472A>G"	"r.(?)"	"p.(Ser158Gly)"	""
"0000477030"	"00000196"	"50"	"564"	"0"	"564"	"0"	"c.564A>C"	"r.(?)"	"p.(Gln188His)"	""
"0000477031"	"00000196"	"50"	"566"	"0"	"566"	"0"	"c.566A>G"	"r.(?)"	"p.(His189Arg)"	""
"0000477032"	"00000196"	"50"	"567"	"0"	"567"	"0"	"c.567C>G"	"r.(?)"	"p.(His189Gln)"	""
"0000477033"	"00000196"	"50"	"785"	"0"	"785"	"0"	"c.785G>A"	"r.(?)"	"p.(Arg262Gln)"	""
"0000477034"	"00000196"	"50"	"908"	"0"	"908"	"0"	"c.908T>C"	"r.(?)"	"p.(Val303Ala)"	""
"0000477035"	"00000196"	"50"	"1121"	"0"	"1121"	"0"	"c.1121C>G"	"r.(?)"	"p.(Thr374Ser)"	""
"0000477036"	"00000196"	"50"	"1439"	"0"	"1439"	"0"	"c.1439C>T"	"r.(?)"	"p.(Thr480Met)"	""
"0000477037"	"00000196"	"50"	"1448"	"0"	"1448"	"0"	"c.1448G>A"	"r.(?)"	"p.(Arg483Gln)"	""
"0000477038"	"00000196"	"50"	"1471"	"0"	"1471"	"0"	"c.1471G>A"	"r.(?)"	"p.(Val491Met)"	""
"0000477039"	"00000196"	"50"	"1534"	"0"	"1534"	"0"	"c.1534C>T"	"r.(?)"	"p.(Arg512Cys)"	""
"0000477040"	"00000196"	"50"	"1634"	"0"	"1634"	"0"	"c.1634A>G"	"r.(?)"	"p.(Asn545Ser)"	""
"0000545074"	"00000196"	"50"	"48"	"-9"	"48"	"-9"	"c.48-9C>A"	"r.(=)"	"p.(=)"	""
"0000545075"	"00000196"	"10"	"57"	"0"	"57"	"0"	"c.57C>G"	"r.(?)"	"p.(Ala19=)"	""
"0000545076"	"00000196"	"50"	"235"	"0"	"235"	"0"	"c.235G>A"	"r.(?)"	"p.(Glu79Lys)"	""
"0000545077"	"00000196"	"50"	"235"	"0"	"235"	"0"	"c.235G>A"	"r.(?)"	"p.(Glu79Lys)"	""
"0000545078"	"00000196"	"50"	"235"	"0"	"235"	"0"	"c.235G>A"	"r.(?)"	"p.(Glu79Lys)"	""
"0000545079"	"00000196"	"30"	"235"	"0"	"235"	"0"	"c.235G>A"	"r.(?)"	"p.(Glu79Lys)"	""
"0000545081"	"00000196"	"30"	"316"	"0"	"316"	"0"	"c.316C>G"	"r.(?)"	"p.(Leu106Val)"	""
"0000545082"	"00000196"	"10"	"378"	"0"	"378"	"0"	"c.378G>A"	"r.(?)"	"p.(Leu126=)"	""
"0000545083"	"00000196"	"10"	"378"	"0"	"378"	"0"	"c.378G>A"	"r.(?)"	"p.(Leu126=)"	""
"0000545084"	"00000196"	"30"	"433"	"-5"	"433"	"-5"	"c.433-5C>T"	"r.spl?"	"p.?"	""
"0000545085"	"00000196"	"30"	"433"	"-3"	"433"	"-3"	"c.433-3C>T"	"r.spl?"	"p.?"	""
"0000545087"	"00000196"	"70"	"479"	"0"	"479"	"0"	"c.479G>A"	"r.(?)"	"p.(Arg160Gln)"	""
"0000545088"	"00000196"	"30"	"616"	"0"	"616"	"0"	"c.616T>G"	"r.(?)"	"p.(Leu206Val)"	""
"0000545090"	"00000196"	"10"	"700"	"0"	"700"	"0"	"c.700G>A"	"r.(?)"	"p.(Glu234Lys)"	""
"0000545091"	"00000196"	"50"	"700"	"0"	"700"	"0"	"c.700G>A"	"r.(?)"	"p.(Glu234Lys)"	""
"0000545092"	"00000196"	"30"	"700"	"0"	"700"	"0"	"c.700G>A"	"r.(?)"	"p.(Glu234Lys)"	""
"0000545093"	"00000196"	"30"	"700"	"0"	"700"	"0"	"c.700G>A"	"r.(?)"	"p.(Glu234Lys)"	""
"0000545095"	"00000196"	"10"	"724"	"-17"	"724"	"-17"	"c.724-17G>T"	"r.(=)"	"p.(=)"	""
"0000545096"	"00000196"	"10"	"724"	"-13"	"724"	"-13"	"c.724-13T>G"	"r.(=)"	"p.(=)"	""
"0000545099"	"00000196"	"10"	"744"	"0"	"744"	"0"	"c.744C>T"	"r.(?)"	"p.(Pro248=)"	""
"0000545100"	"00000196"	"30"	"831"	"-5"	"831"	"-5"	"c.831-5C>T"	"r.spl?"	"p.?"	""
"0000545101"	"00000196"	"30"	"831"	"-5"	"831"	"-5"	"c.831-5C>T"	"r.spl?"	"p.?"	""
"0000545102"	"00000196"	"30"	"979"	"0"	"979"	"0"	"c.979C>T"	"r.(?)"	"p.(Pro327Ser)"	""
"0000545103"	"00000196"	"50"	"1036"	"0"	"1036"	"0"	"c.1036G>A"	"r.(?)"	"p.(Val346Ile)"	""
"0000545108"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000545109"	"00000196"	"50"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000545110"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000545111"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000545112"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000545113"	"00000196"	"30"	"1310"	"0"	"1310"	"0"	"c.1310A>T"	"r.(?)"	"p.(Gln437Leu)"	""
"0000545114"	"00000196"	"30"	"1338"	"0"	"1338"	"0"	"c.1338C>T"	"r.(?)"	"p.(Thr446=)"	""
"0000545115"	"00000196"	"10"	"1341"	"0"	"1341"	"0"	"c.1341C>T"	"r.(?)"	"p.(Ala447=)"	""
"0000545117"	"00000196"	"10"	"1473"	"16"	"1473"	"18"	"c.1473+16_1473+18dup"	"r.(=)"	"p.(=)"	""
"0000545118"	"00000196"	"30"	"1594"	"0"	"1594"	"0"	"c.1594C>T"	"r.(?)"	"p.(Arg532Trp)"	""
"0000545119"	"00000196"	"10"	"1695"	"10"	"1695"	"10"	"c.1695+10G>A"	"r.(=)"	"p.(=)"	""
"0000604351"	"00000196"	"90"	"1285"	"0"	"1285"	"0"	"c.1285C>T"	"r.(?)"	"p.(Arg429*)"	"13"
"0000604352"	"00000196"	"90"	"908"	"0"	"908"	"0"	"c.908del"	"r.(?)"	"p.(Val303Glyfs*29)"	"10"
"0000613581"	"00000196"	"90"	"480"	"-1"	"480"	"-1"	"c.480-1G>C"	"r.spl?"	"p.?"	""
"0000613582"	"00000196"	"90"	"589"	"0"	"589"	"0"	"c.589C>T"	"r.(?)"	"p.(Gln197Ter)"	""
"0000613583"	"00000196"	"30"	"724"	"-16"	"724"	"-16"	"c.724-16C>T"	"r.(=)"	"p.(=)"	""
"0000613584"	"00000196"	"30"	"1035"	"0"	"1035"	"0"	"c.1035C>T"	"r.(?)"	"p.(Ala345=)"	""
"0000613585"	"00000196"	"30"	"1413"	"0"	"1413"	"0"	"c.1413C>A"	"r.(?)"	"p.(Leu471=)"	""
"0000613586"	"00000196"	"50"	"1619"	"0"	"1619"	"0"	"c.1619T>C"	"r.(?)"	"p.(Leu540Pro)"	""
"0000648338"	"00000196"	"50"	"670"	"0"	"670"	"0"	"c.670G>A"	"r.(?)"	"p.(Glu224Lys)"	""
"0000648339"	"00000196"	"30"	"700"	"0"	"700"	"0"	"c.700G>A"	"r.(?)"	"p.(Glu234Lys)"	""
"0000656863"	"00000196"	"50"	"478"	"0"	"478"	"0"	"c.478C>T"	"r.(?)"	"p.(Arg160Trp)"	""
"0000656865"	"00000196"	"90"	"1240"	"0"	"1240"	"0"	"c.1240G>T"	"r.(?)"	"p.(Glu414Ter)"	""
"0000684493"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000684655"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000685009"	"00000196"	"90"	"479"	"0"	"479"	"0"	"c.479G>A"	"r.(?)"	"p.(Arg160Gln)"	""
"0000685010"	"00000196"	"90"	"767"	"0"	"767"	"0"	"c.767del"	"r.(?)"	"p.(Gln256Argfs*20)"	""
"0000685011"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000685012"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000712560"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000712562"	"00000196"	"90"	"1040"	"0"	"1040"	"0"	"c.1040del"	"r.(?)"	"p.(Met347Argfs*27)"	""
"0000712563"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000712564"	"00000196"	"90"	"1040"	"0"	"1040"	"0"	"c.1040del"	"r.(?)"	"p.(Met347Argfs*27)"	""
"0000713268"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000713279"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000713301"	"00000196"	"90"	"479"	"0"	"479"	"0"	"c.479G>A"	"r.(?)"	"p.(Arg160Gln)"	""
"0000713410"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000713421"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000713527"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000713555"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000713767"	"00000196"	"90"	"1712"	"0"	"1712"	"0"	"c.1712del"	"r.(?)"	"p.(Gly572Alafs*7)"	""
"0000714055"	"00000196"	"70"	"1110"	"0"	"1110"	"0"	"c.1110G>A"	"r.(?)"	"p.(Pro370=)"	""
"0000714077"	"00000196"	"70"	"1339"	"0"	"1339"	"0"	"c.1339G>A"	"r.(?)"	"p.(Ala447Thr)"	""
"0000723601"	"00000196"	"70"	"436"	"0"	"436"	"0"	"c.436C>T"	"r.(?)"	"p.(Arg146Ter)"	""
"0000723602"	"00000196"	"50"	"742"	"0"	"742"	"0"	"c.742C>A"	"r.(?)"	"p.(Pro248Thr)"	""
"0000723603"	"00000196"	"50"	"742"	"0"	"742"	"0"	"c.742C>A"	"r.(?)"	"p.(Pro248Thr)"	""
"0000723604"	"00000196"	"50"	"751"	"0"	"751"	"0"	"c.751C>G"	"r.(?)"	"p.(Leu251Val)"	""
"0000723605"	"00000196"	"90"	"871"	"0"	"871"	"0"	"c.871C>T"	"r.(?)"	"p.(Gln291*)"	""
"0000723606"	"00000196"	"90"	"1131"	"0"	"1135"	"0"	"c.1131_1135del"	"r.(?)"	"p.(Cys377TrpfsTer36)"	""
"0000723608"	"00000196"	"30"	"1776"	"0"	"1776"	"0"	"c.1776C>T"	"r.(?)"	"p.(Ala592=)"	""
"0000730340"	"00000196"	"90"	"1645"	"0"	"1645"	"0"	"c.1645G>T"	"r.(?)"	"p.(Glu549*)"	""
"0000730360"	"00000196"	"90"	"118"	"0"	"118"	"0"	"c.118del"	"r.(?)"	"p.(Cys40Alafs*2)"	""
"0000730373"	"00000196"	"90"	"118"	"0"	"118"	"0"	"c.118del"	"r.(?)"	"p.(Cys40Alafs*2)"	""
"0000731039"	"00000196"	"50"	"1396"	"0"	"1396"	"0"	"c.1396G>A"	"r.(?)"	"p.(Ala466Thr)"	""
"0000731053"	"00000196"	"50"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000731075"	"00000196"	"50"	"700"	"0"	"700"	"0"	"c.700G>A"	"r.(?)"	"p.(Glu234Lys)"	""
"0000732553"	"00000196"	"50"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000733042"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000733043"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000733044"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000733126"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000733127"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000733155"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000733304"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000733305"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000733306"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000733307"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000733308"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000733309"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000733310"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000733311"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000733312"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000733313"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000733314"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000733315"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000733316"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000733703"	"00000196"	"70"	"1708"	"0"	"1708"	"0"	"c.1708C>T"	"r.(?)"	"p.(Arg570*)"	""
"0000733704"	"00000196"	"70"	"223"	"0"	"224"	"0"	"c.223_224del"	"r.(?)"	"p.(Leu75Glyfs*23)"	""
"0000733705"	"00000196"	"70"	"599"	"0"	"604"	"0"	"c.599_604del"	"r.(?)"	"p.(Ile200_Thr201del)"	""
"0000735587"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000735588"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000735589"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000735714"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000735715"	"00000196"	"90"	"1405"	"0"	"1405"	"0"	"c.1405C>T"	"r.(?)"	"p.(Gln469*)"	""
"0000735716"	"00000196"	"90"	"1553"	"0"	"1553"	"0"	"c.1553T>C"	"r.(?)"	"p.(Leu518Pro)"	""
"0000759580"	"00000196"	"90"	"1514"	"0"	"1515"	"0"	"c.1514_1515del"	"r.(?)"	"p.(Leu505Profs*52)"	""
"0000759612"	"00000196"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	""
"0000759690"	"00000196"	"90"	"724"	"-358"	"1165"	"0"	"c.724-358_1165del"	"r.?"	"p.?"	""
"0000759691"	"00000196"	"90"	"-3291"	"0"	"1111"	"-1020"	"c.-3291_1111-1020del"	"r.?"	"p.?"	""
"0000759692"	"00000196"	"90"	"831"	"-797"	"7296"	"0"	"c.831-797_*5514del"	"r.0?"	"p.0?"	""
"0000759693"	"00000196"	"90"	"1340"	"-919"	"6538"	"0"	"c.1340-919_*4756del"	"r.0?"	"p.0?"	""
"0000759706"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000759711"	"00000196"	"90"	"1645"	"0"	"1645"	"0"	"c.1645G>T"	"r.(?)"	"p.(Glu549Ter)"	""
"0000759713"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000759715"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000759792"	"00000196"	"90"	"1139"	"0"	"1139"	"0"	"c.1139G>A"	"r.(?)"	"p.(Arg380Gln)"	""
"0000759804"	"00000196"	"90"	"1139"	"0"	"1139"	"0"	"c.1139G>A"	"r.(?)"	"p.(Arg380Gln)"	""
"0000759971"	"00000196"	"50"	"1324"	"0"	"1324"	"0"	"c.1324C>T"	"r.(?)"	"p.(Arg442Trp)"	""
"0000760047"	"00000196"	"50"	"24"	"0"	"24"	"0"	"c.24T>C"	"r.(?)"	"p.(Asp8=)"	""
"0000760154"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000760155"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000760156"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000760653"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000760656"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000760675"	"00000196"	"90"	"1474"	"-2"	"1474"	"-2"	"c.1474-2A>G"	"r.spl"	"p.?"	""
"0000760677"	"00000196"	"90"	"118"	"0"	"118"	"0"	"c.118del"	"r.(?)"	"p.(Cys40AlafsTer2)"	""
"0000763861"	"00000196"	"90"	"592"	"-21"	"592"	"-21"	"c.592-21A>T"	"r.[(592_621del,592_723del,=)]"	"p.[(Thr198_Lys207del,Thr198_Lys241del,=)]"	"8"
"0000763862"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(1169u>g)"	"p.(Met390Arg)"	"12"
"0000763863"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(1169u>g)"	"p.(Met390Arg)"	"12"
"0000763864"	"00000196"	"90"	"592"	"-21"	"592"	"-21"	"c.592-21A>T"	"r.[(592_621del,592_723del,=)]"	"p.[(Thr198_Lys207del,Thr198_Lys241del,=)]"	"8"
"0000763865"	"00000196"	"90"	"592"	"-21"	"592"	"-21"	"c.592-21A>T"	"r.[(592_621del,592_723del,=)]"	"p.[(Thr198_Lys207del,Thr198_Lys241del,=)]"	"8"
"0000763866"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(1169u>g)"	"p.(Met390Arg)"	"12"
"0000763867"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(1169u>g)"	"p.(Met390Arg)"	"12"
"0000763868"	"00000196"	"90"	"592"	"-21"	"592"	"-21"	"c.592-21A>T"	"r.[(592_621del,592_723del,=)]"	"p.[(Thr198_Lys207del,Thr198_Lys241del,=)]"	"8"
"0000765529"	"00000196"	"90"	"48"	"-3"	"48"	"-3"	"c.48-3C>G"	"r.(?)"	"p.?"	""
"0000765530"	"00000196"	"90"	"851"	"0"	"851"	"0"	"c.851del"	"r.(?)"	"p.(Tyr284SerfsTer5)"	""
"0000765532"	"00000196"	"90"	"1012"	"0"	"1012"	"0"	"c.1012C>T"	"r.(?)"	"p.(Gln338Ter)"	""
"0000785394"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000786321"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>C"	"r.(?)"	"p.(Met390Thr)"	""
"0000786322"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>C"	"r.(?)"	"p.(Met390Thr)"	""
"0000786349"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000786407"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000786463"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000787743"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000788329"	"00000196"	"50"	"329"	"0"	"329"	"0"	"c.329C>A"	"r.(?)"	"p.(Pro110His)"	"4"
"0000790454"	"00000196"	"50"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000793690"	"00000196"	"90"	"48"	"-1"	"48"	"-1"	"c.48-1G>A"	"r.spl?"	"p.?"	"2i"
"0000793691"	"00000196"	"90"	"124"	"1"	"124"	"1"	"c.124+1G>A"	"r.spl?"	"p.?"	"3i"
"0000793692"	"00000196"	"90"	"124"	"1"	"124"	"1"	"c.124+1G>A"	"r.spl?"	"p.?"	"3i"
"0000793693"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000793694"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000793695"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000793696"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000793952"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000793965"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000794088"	"00000196"	"70"	"159"	"0"	"159"	"0"	"c.159G>C"	"r.(?)"	"p.(Lys53Asn)"	""
"0000794832"	"00000196"	"70"	"1220"	"0"	"1220"	"0"	"c.1220T>G"	"r.(?)"	"p.(Val407Gly)"	""
"0000794886"	"00000196"	"70"	"831"	"-1"	"1180"	"1"	"c.(830+1_831-1)_(1180+1_1181-1)del"	"r.?"	"p.(Asp278Trpfs*20)"	""
"0000795047"	"00000196"	"90"	"39"	"0"	"39"	"0"	"c.39del"	"r.(?)"	"p.(Ala14Profs*61)"	"3"
"0000795049"	"00000196"	"90"	"39"	"0"	"39"	"0"	"c.39del"	"r.(?)"	"p.(Ala14Profs*61)"	"3"
"0000796269"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.?"	"p.(Met390Arg)"	"13"
"0000796877"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000796878"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000797516"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000797517"	"00000196"	"70"	"1473"	"4"	"1473"	"4"	"c.1473+4A>G"	"r.spl?"	"p.(?)"	""
"0000797518"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000797519"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000797520"	"00000196"	"70"	"1110"	"3"	"1110"	"3"	"c.1110+3G>C"	"r.spl?"	"p.(?)"	""
"0000797932"	"00000196"	"50"	"1660"	"0"	"1660"	"0"	"c.1660A>T"	"r.(?)"	"p.(Ser554Cys)"	""
"0000797933"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000797934"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000797935"	"00000196"	"70"	"1110"	"3"	"1110"	"3"	"c.1110+3G>C"	"r.spl?"	"p.(?)"	""
"0000797936"	"00000196"	"70"	"1110"	"3"	"1110"	"3"	"c.1110+3G>C"	"r.spl?"	"p.(?)"	""
"0000798078"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000805284"	"00000196"	"70"	"47"	"0"	"47"	"0"	"c.47G>C"	"r.(?)"	"p.(Ser16Thr)"	""
"0000805285"	"00000196"	"10"	"1020"	"0"	"1020"	"0"	"c.1020C>G"	"r.(?)"	"p.(Ser340=)"	""
"0000805286"	"00000196"	"30"	"1059"	"0"	"1059"	"0"	"c.1059A>G"	"r.(?)"	"p.(Gly353=)"	""
"0000805287"	"00000196"	"90"	"1177"	"0"	"1177"	"0"	"c.1177C>T"	"r.(?)"	"p.(Arg393*)"	""
"0000805288"	"00000196"	"90"	"1285"	"0"	"1285"	"0"	"c.1285C>T"	"r.(?)"	"p.(Arg429Ter)"	""
"0000805289"	"00000196"	"30"	"1743"	"0"	"1743"	"0"	"c.1743C>T"	"r.(?)"	"p.(His581=)"	""
"0000810850"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000810884"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000810940"	"00000196"	"50"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000810941"	"00000196"	"50"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000810942"	"00000196"	"50"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000810943"	"00000196"	"50"	"1645"	"0"	"1645"	"0"	"c.1645G>T"	"r.(?)"	"p.(Glu549*)"	"16"
"0000810944"	"00000196"	"50"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000810945"	"00000196"	"50"	"1150"	"0"	"1150"	"0"	"c.1150G>T"	"r.(?)"	"p.(Glu384*)"	"13"
"0000810946"	"00000196"	"50"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000810947"	"00000196"	"50"	"479"	"0"	"479"	"0"	"c.479G>A"	"r.(?)"	"p.(Arg160Gln)"	"7"
"0000810948"	"00000196"	"50"	"1285"	"0"	"1285"	"0"	"c.1285C>T"	"r.(?)"	"p.(Arg429*)"	"14"
"0000810981"	"00000196"	"70"	"1340"	"-2"	"1340"	"-2"	"c.1340-2A>G"	"r.spl?"	"p.?"	"13i"
"0000810986"	"00000196"	"50"	"1695"	"0"	"1695"	"0"	"c.1695G>A"	"r.(?)"	"p.(=)"	"16"
"0000811039"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000811040"	"00000196"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	"16"
"0000811045"	"00000196"	"70"	"24"	"0"	"24"	"0"	"c.24T>C"	"r.(=)"	"p.(=)"	"3"
"0000811046"	"00000196"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	""
"0000811047"	"00000196"	"70"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.?"	"p.?"	"3"
"0000811048"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000811070"	"00000196"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	""
"0000811072"	"00000196"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	""
"0000811078"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000811080"	"00000196"	"90"	"217"	"0"	"217"	"0"	"c.217G>T"	"r.(?)"	"p.(Gly73*)"	"4"
"0000811081"	"00000196"	"90"	"320"	"0"	"332"	"0"	"c.320_332dup"	"r.(?)"	"p.(Val112Phefs*9)"	"6"
"0000811082"	"00000196"	"70"	"382"	"0"	"382"	"0"	"c.382C>T"	"r.(?)"	"p.(Gln128*)"	"7"
"0000811083"	"00000196"	"70"	"436"	"0"	"436"	"0"	"c.436C>T"	"r.(?)"	"p.(Arg146*)"	"7"
"0000811084"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000811085"	"00000196"	"70"	"436"	"0"	"436"	"0"	"c.436C>T"	"r.(?)"	"p.(Arg146*)"	"7"
"0000811086"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000811088"	"00000196"	"70"	"436"	"0"	"436"	"0"	"c.436C>T"	"r.(?)"	"p.(Arg146*)"	"7"
"0000811089"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000811090"	"00000196"	"90"	"508"	"0"	"508"	"0"	"c.508C>T"	"r.(?)"	"p.(Gln170*)"	"8"
"0000811091"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000811092"	"00000196"	"90"	"863"	"0"	"863"	"0"	"c.863T>G"	"r.(?)"	"p.(Leu288Arg)"	"10"
"0000811093"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000811094"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000811095"	"00000196"	"70"	"1285"	"0"	"1285"	"0"	"c.1285C>T"	"r.(=)"	"p.(Arg429*)"	"14"
"0000811096"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000811097"	"00000196"	"70"	"1447"	"0"	"1447"	"0"	"c.1447C>T"	"r.(?)"	"p.(Arg483*)"	"15"
"0000811098"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000811099"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000811100"	"00000196"	"70"	"1645"	"0"	"1645"	"0"	"c.1645G>T"	"r.(?)"	"p.(Glu549*)"	"16"
"0000811101"	"00000196"	"70"	"1645"	"0"	"1645"	"0"	"c.1645G>T"	"r.(?)"	"p.(Glu549*)"	"16"
"0000811102"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000811103"	"00000196"	"70"	"1285"	"0"	"1285"	"0"	"c.1285C>T"	"r.(=)"	"p.(Arg429*)"	"14"
"0000811219"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000811238"	"00000196"	"70"	"479"	"0"	"479"	"0"	"c.479G>A"	"r.(?)"	"p.(Arg160Gln)"	"7"
"0000811241"	"00000196"	"10"	"1110"	"14"	"1110"	"14"	"c.1110+14C>G"	"r.spl?"	"p.?"	"12i"
"0000811242"	"00000196"	"10"	"1792"	"0"	"1800"	"0"	"c.*10_*18dup"	"r.(=)"	"p.(=)"	"16"
"0000811265"	"00000196"	"90"	"1650"	"0"	"1650"	"0"	"c.1650del"	"r.(=)"	"p.(=)"	"16"
"0000811266"	"00000196"	"90"	"1650"	"0"	"1650"	"0"	"c.1650del"	"r.(=)"	"p.(=)"	"16"
"0000811267"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000811268"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000811270"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000811272"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000811274"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000811277"	"00000196"	"90"	"1608"	"2"	"1608"	"2"	"c.1608+2T>C"	"r.spl?"	"p.?"	"16"
"0000811279"	"00000196"	"90"	"851"	"0"	"851"	"0"	"c.851del"	"r.(?)"	"p.(Asp284Alafs*14)"	"10"
"0000811281"	"00000196"	"90"	"442"	"0"	"442"	"0"	"c.442G>A"	"r.(?)"	"p.(Glu148Lys)"	"7"
"0000811289"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000811294"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000811295"	"00000196"	"90"	"1552"	"0"	"1552"	"0"	"c.1552T>C"	"r.(?)"	"p.(*518Argext*41)"	"16"
"0000811296"	"00000196"	"90"	"951"	"1"	"951"	"1"	"c.951+1G>A"	"r.spl?"	"p.?"	"11i"
"0000811297"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000811298"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000811299"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000811300"	"00000196"	"90"	"830"	"1"	"830"	"1"	"c.830+1G>A"	"r.spl?"	"p.?"	"10i"
"0000811301"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000811302"	"00000196"	"90"	"436"	"0"	"436"	"0"	"c.436C>T"	"r.(?)"	"p.(Arg146*)"	"7"
"0000811303"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000811311"	"00000196"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	""
"0000811312"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000811314"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000811315"	"00000196"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	""
"0000811317"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000811318"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000811320"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000811321"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000811325"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000811336"	"00000196"	"70"	"1608"	"2"	"1608"	"2"	"c.1608+2T>C"	"r.spl?"	"p.?"	"16"
"0000811342"	"00000196"	"70"	"700"	"0"	"700"	"0"	"c.700G>A"	"r.(?)"	"p.(Glu234Lys)"	"9"
"0000811450"	"00000196"	"70"	"68"	"0"	"68"	"0"	"c.68G>A"	"r.(?)"	"p.(Trp23*)"	""
"0000811451"	"00000196"	"70"	"1097"	"0"	"1097"	"0"	"c.1097T>A"	"r.(?)"	"p.(Val366Asp)"	""
"0000811452"	"00000196"	"70"	"1515"	"0"	"1525"	"0"	"c.1515_1525del"	"r.(?)"	"p.(Gln506Asnfs*48)"	""
"0000811455"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000811705"	"00000196"	"70"	"46"	"0"	"46"	"0"	"c.46A>T"	"c.46A>T"	"p.(Ser16Cys)"	"1"
"0000811712"	"00000196"	"50"	"1016"	"0"	"1016"	"0"	"c.1016A>T"	"c.1016A>T"	"p.(His339Leu)"	"12"
"0000811714"	"00000196"	"90"	"1285"	"0"	"1285"	"0"	"c.1285dup"	"c.1285dup"	"p.(Arg429Profs*72)"	"13"
"0000812356"	"00000196"	"70"	"519"	"-2"	"519"	"-2"	"c.519-2A>G"	"r.(?)"	"p.(?)"	"6i"
"0000812357"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"12"
"0000812358"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"12"
"0000812478"	"00000196"	"70"	"479"	"0"	"479"	"0"	"c.479G>A"	"r.(?)"	"p.(Arg160Gln)"	"5"
"0000813048"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000813049"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000813050"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000813051"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000813052"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000813053"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000813054"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000813055"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000813056"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000813057"	"00000196"	"70"	"436"	"0"	"436"	"0"	"c.436C>T"	"r.(?)"	"p.(Arg146*)"	"7"
"0000813058"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000813059"	"00000196"	"70"	"830"	"0"	"830"	"0"	"c.830G>A"	"r.(?)"	"p.(Gly277Glu)"	"10"
"0000813060"	"00000196"	"70"	"1167"	"0"	"1169"	"0"	"c.1167_1169del"	"r.(?)"	"p.(Ala390del)"	"13"
"0000813061"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000813132"	"00000196"	"30"	"1167"	"0"	"1167"	"0"	"c.1167C>W"	"r.(=)"	"p.(=)"	"13"
"0000813153"	"00000196"	"50"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.F534A"	""
"0000813173"	"00000196"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.M242RfsX83"	""
"0000813174"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000813176"	"00000196"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.I296TfsX7"	""
"0000813231"	"00000196"	"70"	"124"	"1"	"124"	"1"	"c.124+1G>A"	"r.125_159del"	"p.L43Gfs*44"	"3i"
"0000813233"	"00000196"	"70"	"124"	"1"	"124"	"1"	"c.124+1G>A"	"r.125_159del"	"p.L43Gfs*44"	"3i"
"0000813234"	"00000196"	"70"	"124"	"1"	"124"	"1"	"c.124+1G>A"	"r.125_159del"	"p.L43Gfs*44"	"3i"
"0000813235"	"00000196"	"70"	"124"	"1"	"124"	"1"	"c.124+1G>A"	"r.125_159del"	"p.L43Gfs*44"	"3i"
"0000813236"	"00000196"	"70"	"124"	"1"	"124"	"1"	"c.124+1G>A"	"r.125_159del"	"p.L43Gfs*44"	"3i"
"0000813251"	"00000196"	"70"	"1110"	"329"	"1110"	"329"	"c.1110+329C>T"	"r.951_952ins951+1_952-1"	"p.G318Vfs*36"	"12i"
"0000813253"	"00000196"	"70"	"1110"	"329"	"1110"	"329"	"c.1110+329C>T"	"r.951_952ins951+1_952-1"	"p.G318Vfs*36"	"12i"
"0000813254"	"00000196"	"70"	"124"	"1"	"124"	"1"	"c.124+1G>A"	"r.125_159del"	"p.L43Gfs*44"	"3i"
"0000813255"	"00000196"	"70"	"951"	"58"	"951"	"58"	"c.951+58C>T"	"r.951_952ins951+1_951+58"	"p.G318Vfs*62"	"11i"
"0000813259"	"00000196"	"70"	"124"	"1"	"124"	"1"	"c.124+1G>A"	"r.125_159del"	"p.L43Gfs*44"	"3i"
"0000813260"	"00000196"	"70"	"951"	"58"	"951"	"58"	"c.951+58C>T"	"r.951_952ins951+1_951+59"	"p.G318Vfs*62"	"11i"
"0000813261"	"00000196"	"70"	"951"	"58"	"951"	"58"	"c.951+58C>T"	"r.spl?"	"p.(G318Vfs*62)"	"11i"
"0000813262"	"00000196"	"70"	"951"	"58"	"951"	"58"	"c.951+58C>T"	"r.spl?"	"p.(G318Vfs*62)"	"11i"
"0000813263"	"00000196"	"70"	"951"	"58"	"951"	"58"	"c.951+58C>T"	"r.spl?"	"p.(G318Vfs*62)"	"11i"
"0000813273"	"00000196"	"70"	"951"	"58"	"951"	"58"	"c.951+58C>T"	"r.951_952ins951+1_951+58"	"p.G318Vfs*62"	"11i"
"0000813275"	"00000196"	"70"	"951"	"58"	"951"	"58"	"c.951+58C>T"	"r.951_952ins951+1_951+58"	"p.G318Vfs*62"	"11i"
"0000813279"	"00000196"	"70"	"124"	"1"	"124"	"1"	"c.124+1G>A"	"r.125_159del"	"p.L43Gfs*44"	"3i"
"0000813294"	"00000196"	"70"	"124"	"1"	"124"	"1"	"c.124+1G>A"	"r.125_159del"	"p.L43Gfs*44"	"3i"
"0000813295"	"00000196"	"70"	"124"	"1"	"124"	"1"	"c.124+1G>A"	"r.125_159del"	"p.L43Gfs*44"	"3i"
"0000813302"	"00000196"	"70"	"951"	"58"	"951"	"58"	"c.951+58C>T"	"r.951_952ins951+1_951+58"	"p.G318Vfs*62"	"11i"
"0000813304"	"00000196"	"70"	"951"	"58"	"951"	"58"	"c.951+58C>T"	"r.951_952ins951+1_951+58"	"p.G318Vfs*62"	"11i"
"0000813318"	"00000196"	"50"	"889"	"0"	"889"	"0"	"c.889C>T"	"r.(?)"	"p.(Arg297Trp)"	"11"
"0000813325"	"00000196"	"50"	"1684"	"0"	"1684"	"0"	"c.1684G>A"	"r.(=)"	"p.(Asp562Asn)"	"16"
"0000813327"	"00000196"	"50"	"1684"	"0"	"1684"	"0"	"c.1684G>A"	"r.(=)"	"p.(Asp562Asn)"	"16"
"0000813330"	"00000196"	"50"	"1684"	"0"	"1684"	"0"	"c.1684G>A"	"r.(=)"	"p.(Asp562Asn)"	"16"
"0000813871"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000813872"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000813873"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000813874"	"00000196"	"70"	"1514"	"0"	"1515"	"0"	"c.1514_1515del"	"r.(?)"	"p.(Leu505Profs*52)"	""
"0000813893"	"00000196"	"70"	"1110"	"0"	"1110"	"0"	"c.1110G>A"	"r.(?)"	"p.(Pro370=)"	""
"0000813894"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000813906"	"00000196"	"90"	"1645"	"0"	"1645"	"0"	"c.1645G>T"	"r.(?)"	"p.?"	"16"
"0000813908"	"00000196"	"70"	"1473"	"4"	"1473"	"4"	"c.1473+4A>G"	"r.(?)"	"p.?"	"16"
"0000813910"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.?"	"13"
"0000813911"	"00000196"	"90"	"1645"	"0"	"1645"	"0"	"c.1645G>T"	"r.(?)"	"p.?"	"16"
"0000813926"	"00000196"	"90"	"1535"	"0"	"1535"	"0"	"c.1535G>A"	"r.(?)"	"p.?"	"16"
"0000813927"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.?"	"13"
"0000813928"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.?"	"13"
"0000813929"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.?"	"13"
"0000813930"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.?"	"13"
"0000813931"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.?"	"13"
"0000813932"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.?"	"13"
"0000813933"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.?"	"13"
"0000813934"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.?"	"13"
"0000813935"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.?"	"13"
"0000813936"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.?"	"13"
"0000813937"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.?"	"13"
"0000813938"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.?"	"13"
"0000813939"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.?"	"13"
"0000813940"	"00000196"	"70"	"518"	"1"	"518"	"1"	"c.518+1G>A"	"r.(?)"	"p.?"	"8i"
"0000813941"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.?"	"13"
"0000813942"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.?"	"13"
"0000813943"	"00000196"	"90"	"1645"	"0"	"1645"	"0"	"c.1645G>T"	"r.(?)"	"p.?"	"16"
"0000813980"	"00000196"	"90"	"670"	"0"	"670"	"0"	"c.670G>A"	"r.(?)"	"p.?"	"9"
"0000814001"	"00000196"	"90"	"479"	"0"	"479"	"0"	"c.479G>A"	"r.(?)"	"p.?"	"7"
"0000814004"	"00000196"	"90"	"951"	"1"	"951"	"1"	"c.951+1G>A"	"r.(?)"	"p.?"	"11i"
"0000814005"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.?"	"13"
"0000814013"	"00000196"	"90"	"1473"	"4"	"1473"	"4"	"c.1473+4A>G"	"r.(?)"	"p.?"	"16"
"0000814015"	"00000196"	"90"	"436"	"0"	"436"	"0"	"c.436C>T"	"r.(?)"	"p.?"	"7"
"0000814017"	"00000196"	"90"	"39"	"0"	"39"	"0"	"c.39del"	"r.(?)"	"p.(Ala14Profs*61)"	"3"
"0000814049"	"00000196"	"90"	"1110"	"0"	"1110"	"0"	"c.1110G>A"	"r.(?)"	"p.?"	"12"
"0000814050"	"00000196"	"90"	"1110"	"0"	"1110"	"0"	"c.1110G>A"	"r.(?)"	"p.?"	"12"
"0000814053"	"00000196"	"90"	"1473"	"4"	"1473"	"4"	"c.1473+4A>G"	"r.(?)"	"p.?"	"16"
"0000814054"	"00000196"	"90"	"448"	"0"	"448"	"0"	"c.448C>T"	"r.(?)"	"p.?"	"7"
"0000814055"	"00000196"	"90"	"448"	"0"	"448"	"0"	"c.448C>T"	"r.(?)"	"p.?"	"7"
"0000814056"	"00000196"	"90"	"448"	"0"	"448"	"0"	"c.448C>T"	"r.(?)"	"p.?"	"7"
"0000814080"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.?"	"13"
"0000814081"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.?"	"13"
"0000814082"	"00000196"	"50"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.?"	"13"
"0000814083"	"00000196"	"50"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.?"	"13"
"0000814084"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.?"	"13"
"0000814085"	"00000196"	"50"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.?"	"13"
"0000814086"	"00000196"	"50"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.?"	"13"
"0000814087"	"00000196"	"50"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.?"	"13"
"0000814088"	"00000196"	"50"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	""
"0000814089"	"00000196"	"50"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.?"	"13"
"0000814090"	"00000196"	"50"	"1645"	"0"	"1645"	"0"	"c.1645G>T"	"r.(?)"	"p.?"	"16"
"0000814091"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.?"	"13"
"0000814092"	"00000196"	"70"	"1645"	"0"	"1645"	"0"	"c.1645G>T"	"r.(?)"	"p.?"	"16"
"0000814093"	"00000196"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	""
"0000814094"	"00000196"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	""
"0000814118"	"00000196"	"50"	"479"	"0"	"479"	"0"	"c.479G>A"	"r.(?)"	"p.?"	"7"
"0000814120"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.?"	"13"
"0000814121"	"00000196"	"70"	"1570"	"0"	"1572"	"0"	"c.1570_1572delAAC"	"r.(?)"	"p.?"	"16"
"0000814122"	"00000196"	"50"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.?"	"13"
"0000814123"	"00000196"	"70"	"24"	"0"	"24"	"0"	"c.24T>C"	"r.(=)"	"p.(=)"	"3"
"0000814125"	"00000196"	"70"	"989"	"0"	"989"	"0"	"c.989T>C"	"r.(?)"	"p.?"	"12"
"0000814126"	"00000196"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	""
"0000814127"	"00000196"	"70"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.?"	"p.?"	"3"
"0000814128"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.?"	"13"
"0000814130"	"00000196"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	""
"0000814131"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.?"	"13"
"0000814133"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.?"	"13"
"0000814134"	"00000196"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	""
"0000814135"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.?"	"13"
"0000814137"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.?"	"13"
"0000814138"	"00000196"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	""
"0000814139"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.?"	"13"
"0000814140"	"00000196"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	""
"0000814141"	"00000196"	"70"	"951"	"2"	"951"	"2"	"c.951+2T>C"	"r.(?)"	"p.?"	"11i"
"0000814142"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.?"	"13"
"0000814143"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.?"	"13"
"0000814144"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.?"	"13"
"0000814157"	"00000196"	"70"	"1338"	"0"	"1338"	"0"	"c.1338C>T"	"r.(?)"	"p.?"	"14"
"0000814198"	"00000196"	"70"	"1167"	"0"	"1167"	"0"	"c.1167C>T"	"r.(=)"	"p.(=)"	"13"
"0000814222"	"00000196"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	""
"0000814246"	"00000196"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	""
"0000814247"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.?"	"13"
"0000814251"	"00000196"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	""
"0000814522"	"00000196"	"90"	"436"	"0"	"436"	"0"	"c.436C>T"	"r.(?)"	"p.(Arg146*)"	"7"
"0000814523"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000814538"	"00000196"	"90"	"436"	"0"	"436"	"0"	"c.436C>T"	"r.(?)"	"p.(Arg146*)"	"7"
"0000814539"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000814540"	"00000196"	"90"	"436"	"0"	"436"	"0"	"c.436C>T"	"r.(?)"	"p.(Arg146*)"	"7"
"0000814541"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000814542"	"00000196"	"90"	"223"	"0"	"224"	"0"	"c.223_224del"	"r.(?)"	"p.(Leu75Glyfs*23)"	"4"
"0000814543"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000814544"	"00000196"	"50"	"616"	"0"	"616"	"0"	"c.616T>G"	"r.(?)"	"p.(Leu206Val)"	"9"
"0000814545"	"00000196"	"90"	"223"	"0"	"224"	"0"	"c.223_224del"	"r.(?)"	"p.(Leu75Glyfs*23)"	"4"
"0000814546"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000814547"	"00000196"	"50"	"616"	"0"	"616"	"0"	"c.616T>G"	"r.(?)"	"p.(Leu206Val)"	"9"
"0000814572"	"00000196"	"90"	"480"	"-1"	"480"	"-1"	"c.480-1G>C"	"r.spl?"	"p.?"	"5i"
"0000814574"	"00000196"	"70"	"734"	"0"	"734"	"0"	"c.734C>T"	"r.(?)"	"p.(Pro245Leu)"	"10"
"0000814576"	"00000196"	"70"	"871"	"0"	"871"	"0"	"c.871C>T"	"r.(?)"	"p.(Gln291*)"	"10"
"0000814577"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000814578"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000814630"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000814631"	"00000196"	"70"	"863"	"0"	"863"	"0"	"c.863T>G"	"r.(?)"	"p.(Leu288Arg)"	"10"
"0000814632"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000814633"	"00000196"	"70"	"1097"	"0"	"1097"	"0"	"c.1097T>A"	"r.(?)"	"p.(Val366Asp)"	"12"
"0000814634"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000814635"	"00000196"	"70"	"837"	"0"	"837"	"0"	"c.837del"	"r.(?)"	"p.(Arg280Alafs*18)"	"10"
"0000814664"	"00000196"	"90"	"1645"	"0"	"1645"	"0"	"c.1645G>T"	"r.(?)"	"p.(Glu549*)"	"16"
"0000814666"	"00000196"	"90"	"-12"	"-1"	"1110"	"1"	"c.(?_-12-1)_(1110+1_?)del"	"r.(?)"	"p.?"	"2i_12i"
"0000815988"	"00000196"	"50"	"815"	"0"	"815"	"0"	"c.815T>C"	"r.(?)"	"p.(Ile272Thr)"	""
"0000816095"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000816232"	"00000196"	"90"	"432"	"1"	"432"	"1"	"c.432+1G>A"	"r.spl"	"p.(?)"	""
"0000816247"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000816332"	"00000196"	"50"	"815"	"0"	"815"	"0"	"c.815T>C"	"r.(?)"	"p.(Ile272Thr)"	""
"0000816420"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000816522"	"00000196"	"90"	"1645"	"0"	"1645"	"0"	"c.1645G>T"	"r.(?)"	"p.(Glu549*)"	""
"0000816532"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000816817"	"00000196"	"70"	"1645"	"0"	"1645"	"0"	"c.1645G>T"	"r.(?)"	"p.(Glu549*)"	""
"0000817395"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000817396"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000817397"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000817399"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000817400"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000817401"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000817402"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000817403"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000817404"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000817405"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000817406"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000817407"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000817408"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000817409"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000817410"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000817411"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000817412"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000817413"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000817414"	"00000196"	"10"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000817416"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000817417"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000817418"	"00000196"	"70"	"1645"	"0"	"1645"	"0"	"c.1645G>T"	"r.(?)"	"p.(Glu549*)"	"16"
"0000817419"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000817420"	"00000196"	"70"	"1645"	"0"	"1645"	"0"	"c.1645G>T"	"r.(?)"	"p.(Glu549*)"	"16"
"0000817421"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000817422"	"00000196"	"70"	"1645"	"0"	"1645"	"0"	"c.1645G>T"	"r.(?)"	"p.(Glu549*)"	"16"
"0000817423"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000817424"	"00000196"	"70"	"436"	"0"	"436"	"0"	"c.436C>T"	"r.(?)"	"p.(Arg146*)"	"7"
"0000817425"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000817426"	"00000196"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.(Asp278fs*9)"	""
"0000817427"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000817428"	"00000196"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.(Asp278fs*9)"	""
"0000817429"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000817430"	"00000196"	"70"	"1645"	"0"	"1645"	"0"	"c.1645G>T"	"r.(?)"	"p.(Glu549*)"	"16"
"0000817431"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000817432"	"00000196"	"70"	"1645"	"0"	"1645"	"0"	"c.1645G>T"	"r.(?)"	"p.(Glu549*)"	"16"
"0000817433"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000817434"	"00000196"	"70"	"863"	"0"	"863"	"0"	"c.863T>G"	"r.(?)"	"p.(Leu288Arg)"	"10"
"0000817435"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000817436"	"00000196"	"70"	"1097"	"0"	"1097"	"0"	"c.1097T>A"	"r.(?)"	"p.(Val366Asp)"	"12"
"0000817437"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000817438"	"00000196"	"70"	"1097"	"0"	"1097"	"0"	"c.1097T>A"	"r.(?)"	"p.(Val366Asp)"	"12"
"0000817439"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000817440"	"00000196"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.(His504fs*48)"	""
"0000817441"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000817442"	"00000196"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.(His504fs*48)"	""
"0000817538"	"00000196"	"70"	"48"	"-1"	"48"	"-1"	"c.48-1G>A"	"r.spl?"	"p.?"	"2i"
"0000817566"	"00000196"	"50"	"951"	"58"	"951"	"58"	"c.951+58C>T"	"r.spl?"	"p.?"	"11i"
"0000817567"	"00000196"	"50"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.(G318Vfs*61)"	""
"0000818185"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(M390R)"	"13"
"0000818186"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(M390R)"	"13"
"0000818194"	"00000196"	"90"	"1645"	"0"	"1645"	"0"	"c.1645G>T"	"r.(?)"	"p.(E549*)"	"16"
"0000818195"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(M390R)"	"13"
"0000818199"	"00000196"	"90"	"664"	"0"	"664"	"0"	"c.664G>C"	"r.(?)"	"p.(Val222Leu)"	"9"
"0000818200"	"00000196"	"90"	"664"	"0"	"664"	"0"	"c.664G>C"	"r.(?)"	"p.(Val222Leu)"	"9"
"0000818201"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.M390R)"	"13"
"0000818202"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.M390R)"	"13"
"0000818203"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.M390R)"	"13"
"0000818204"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"c.1169T>G"	"13"
"0000818205"	"00000196"	"90"	"1642"	"0"	"1642"	"0"	"c.1642delC"	"r.(?)"	"c.1642del"	"16"
"0000818206"	"00000196"	"90"	"592"	"-59"	"592"	"-59"	"c.592-59G>A"	"r.spl?"	"p.?"	"7i"
"0000818207"	"00000196"	"90"	"1702"	"0"	"1702"	"0"	"c.1702G>A"	"r.(?)"	"p.V568M)"	"16"
"0000818399"	"00000196"	"90"	"1285"	"0"	"1285"	"0"	"c.1285C>T"	"r.(?)"	"p.(Arg429*)"	""
"0000818400"	"00000196"	"90"	"908"	"0"	"908"	"0"	"c.908del"	"r.(?)"	"p.(Val303Glyfs*29)"	""
"0000819012"	"00000196"	"70"	"1285"	"0"	"1285"	"0"	"c.1285C>T"	"r.(?)"	"p.(Arg429*)"	""
"0000819024"	"00000196"	"70"	"831"	"0"	"1110"	"0"	"c.831_1110del"	"r.(?)"	"p.(Asp278Metfs*3)"	""
"0000819055"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000819320"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000819321"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000819335"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000819336"	"00000196"	"70"	"436"	"0"	"436"	"0"	"c.436C>T"	"r.(?)"	"p.(Arg146*)"	""
"0000819356"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000819410"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000819424"	"00000196"	"70"	"1570"	"0"	"1572"	"0"	"c.1570_1572del"	"r.(?)"	"p.(Asn524del)"	""
"0000819455"	"00000196"	"70"	"479"	"0"	"479"	"0"	"c.479G>A"	"r.(?)"	"p.(Arg160Gln)"	""
"0000819467"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000819522"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000820115"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000820183"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000820323"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000820516"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000820541"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000820546"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000820555"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000820618"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000820663"	"00000196"	"70"	"1608"	"1"	"1608"	"1"	"c.1608+1G>A"	"r.spl"	"p.(?)"	""
"0000820817"	"00000196"	"70"	"1232"	"0"	"1235"	"0"	"c.1232_1235del"	"r.(?)"	"p.(Gly411Glufs*12)"	""
"0000820964"	"00000196"	"70"	"952"	"0"	"952"	"0"	"c.952G>A"	"r.(?)"	"p.(Gly318Arg)"	""
"0000820967"	"00000196"	"70"	"41"	"0"	"41"	"0"	"c.41C>G"	"r.(?)"	"p.(Ala14Gly)"	""
"0000821017"	"00000196"	"70"	"329"	"0"	"329"	"0"	"c.329C>A"	"r.(?)"	"p.(Pro110His)"	""
"0000821159"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000821160"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000821161"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000821162"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000821525"	"00000196"	"70"	"1713"	"0"	"1713"	"0"	"c.1713del"	"r.(?)"	"p.(Gly572Alafs*7)"	""
"0000823250"	"00000196"	"50"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000826452"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.?"	"p.(Met390Arg)"	"13"
"0000826994"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000828511"	"00000196"	"50"	"1253"	"0"	"1253"	"0"	"c.1253C>T"	"r.(?)"	"p.(Pro418Leu)"	""
"0000828512"	"00000196"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.0?"	"p.0?"	""
"0000828534"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000828535"	"00000196"	"90"	"951"	"58"	"951"	"58"	"c.951+58C>T"	"r.spl"	"p.(?)"	""
"0000828537"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000828546"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000828557"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000829719"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000829781"	"00000196"	"70"	"1614"	"0"	"1614"	"0"	"c.1614del"	"r.(?)"	"p.(Leu539Cysfs*40)"	""
"0000829803"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000829992"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000829993"	"00000196"	"90"	"1125"	"0"	"1125"	"0"	"c.1125C>G"	"r.(=)"	"p.(Ser375Arg)"	"13"
"0000829994"	"00000196"	"90"	"1473"	"4"	"1473"	"4"	"c.1473+4A>G"	"r.spl?"	"p.?"	"16"
"0000829995"	"00000196"	"90"	"1473"	"4"	"1473"	"4"	"c.1473+4A>G"	"r.spl?"	"p.?"	"16"
"0000829996"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000829997"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000829998"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000829999"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000830000"	"00000196"	"90"	"1111"	"-1"	"1695"	"1"	"c.1111-1_1695+1del"	"r.spl?"	"p.?"	"11i_16"
"0000830001"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000830002"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000830003"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000830004"	"00000196"	"90"	"951"	"1"	"951"	"1"	"c.951+1G>A"	"r.spl?"	"p.?"	"11i"
"0000830005"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000830006"	"00000196"	"90"	"592"	"-1"	"830"	"1"	"c.592-1_830+1del"	"r.spl?"	"p.?"	"7i_10i"
"0000830007"	"00000196"	"90"	"436"	"0"	"436"	"0"	"c.436C>T"	"r.(?)"	"p.(Arg146*)"	"7"
"0000830008"	"00000196"	"90"	"592"	"-1"	"830"	"1"	"c.592-1_830+1del"	"r.spl?"	"p.?"	"7i_10i"
"0000830009"	"00000196"	"90"	"436"	"0"	"436"	"0"	"c.436C>T"	"r.(?)"	"p.(Arg146*)"	"7"
"0000830010"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000830011"	"00000196"	"90"	"1694"	"0"	"1694"	"0"	"c.1694A>G"	"r.(?)"	"p.(Lys565Arg)"	"16"
"0000830012"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000830013"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000830014"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000830015"	"00000196"	"90"	"1177"	"0"	"1177"	"0"	"c.1177C>T"	"r.(?)"	"p.(Arg393*)"	"13"
"0000830016"	"00000196"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	"13"
"0000830017"	"00000196"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	"13"
"0000834080"	"00000196"	"50"	"1045"	"0"	"1045"	"0"	"c.1045G>C"	"r.(?)"	"p.(Gly349Arg)"	"11"
"0000834140"	"00000196"	"70"	"1385"	"0"	"1401"	"0"	"c.1385_1401dup"	"r.(?)"	"p.(Leu468ValfsTer14)"	"14"
"0000841599"	"00000196"	"30"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000846793"	"00000196"	"70"	"830"	"0"	"830"	"0"	"c.(830G>A)"	"r.(?)"	"p.(Arg277Lys)"	""
"0000846794"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.(1169T>G)"	"r.(?)"	"p.(Met390Arg)"	""
"0000846795"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.(1169T>G)"	"r.(?)"	"p.(Met390Arg)"	""
"0000846796"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.(1169T>G)"	"r.(?)"	"p.(Met390Arg)"	""
"0000846797"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.(1169T>G)"	"r.(?)"	"p.(Met390Arg)"	""
"0000846798"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.(1169T>G)"	"r.(?)"	"p.(Met390Arg)"	""
"0000846799"	"00000196"	"70"	"2276"	"0"	"2276"	"0"	"c.(2276G>T)"	"r.(?)"	"p.(Cys759Phe)"	""
"0000846800"	"00000196"	"70"	"5514"	"0"	"5514"	"0"	"c.(5514T>A)"	"r.(?)"	"p.(Tyr1838*)"	""
"0000846801"	"00000196"	"70"	"2299"	"0"	"2299"	"0"	"c.(2299delG)"	"r.(?)"	"p.(Glu767Serfs*21)"	""
"0000846802"	"00000196"	"70"	"2276"	"0"	"2276"	"0"	"c.(2276G>T)"	"r.(?)"	"p.(Cys759Phe)"	""
"0000846803"	"00000196"	"70"	"2299"	"0"	"2299"	"0"	"c.(2299delG)"	"r.(?)"	"p.(Glu767Serfs*21)"	""
"0000846806"	"00000196"	"70"	"1167"	"0"	"1169"	"0"	"c.(1167_1169del)"	"r.(?)"	"p.(Ile1389del)"	""
"0000846807"	"00000196"	"70"	"1447"	"0"	"1447"	"0"	"c.(1447C>T)"	"r.(?)"	"p.(Arg483*)"	""
"0000846808"	"00000196"	"70"	"11864"	"0"	"11864"	"0"	"c.(11864G>A)"	"r.(?)"	"p.(Trp3955*)"	""
"0000846809"	"00000196"	"70"	"6383"	"0"	"6383"	"0"	"c.(6383G>T)"	"r.(?)"	"p.(Cys2128Phe)"	""
"0000846810"	"00000196"	"70"	"1214"	"0"	"1214"	"0"	"c.(1214del)"	"r.(?)"	"p.(Asn405Ilefs*3)"	""
"0000853096"	"00000196"	"70"	"592"	"-21"	"592"	"-21"	"c.592-21A>T"	"r.(=)"	"p.(=)"	""
"0000862642"	"00000196"	"90"	"945"	"0"	"946"	"0"	"c.945_946insACAAGGTGCACCACACCACAAGGTGCAC"	"r.(?)"	"p.(His316Thrfs*54)"	""
"0000862643"	"00000196"	"50"	"1147"	"0"	"1147"	"0"	"c.1147C>T"	"r.(?)"	"p.(Arg383Trp)"	""
"0000871262"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000871263"	"00000196"	"70"	"1135"	"0"	"1135"	"0"	"c.1135G>C"	"r.(?)"	"p.(Gly379Arg)"	""
"0000871264"	"00000196"	"70"	"124"	"2"	"124"	"2"	"c.124+2T>G"	"r.(?)"	"p.(Asn17Alafs*56)"	"2"
"0000871265"	"00000196"	"70"	"723"	"2"	"723"	"2"	"c.723+2T>G"	"r.(?)"	"p.(Thr198_Lys241del)"	"8"
"0000871267"	"00000196"	"70"	"1214"	"0"	"1215"	"0"	"c.1214_1215ins[MT113356]"	"r.(?)"	"p.(Ala406Glnfs*47)"	""
"0000871268"	"00000196"	"70"	"1214"	"0"	"1215"	"0"	"c.1214_1215ins[MT113356]"	"r.(?)"	"p.(Ala406Glnfs*47)"	""
"0000871269"	"00000196"	"70"	"1214"	"0"	"1215"	"0"	"c.1214_1215ins[MT113356]"	"r.(?)"	"p.(Ala406Glnfs*47)"	""
"0000871270"	"00000196"	"70"	"1214"	"0"	"1215"	"0"	"c.1214_1215ins[MT113356]"	"r.(?)"	"p.(Ala406Glnfs*47)"	""
"0000871271"	"00000196"	"70"	"1214"	"0"	"1215"	"0"	"c.1214_1215ins[MT113356]"	"r.(?)"	"p.(Ala406Glnfs*47)"	""
"0000871272"	"00000196"	"70"	"1214"	"0"	"1215"	"0"	"c.1214_1215ins[MT113356]"	"r.(?)"	"p.(Ala406Glnfs*47)"	""
"0000871273"	"00000196"	"70"	"1214"	"0"	"1215"	"0"	"c.1214_1215ins[MT113356]"	"r.(?)"	"p.(Ala406Glnfs*47)"	""
"0000871274"	"00000196"	"70"	"1214"	"0"	"1215"	"0"	"c.1214_1215ins[MT113356]"	"r.(?)"	"p.(Ala406Glnfs*47)"	""
"0000871275"	"00000196"	"70"	"1214"	"0"	"1215"	"0"	"c.1214_1215ins[MT113356]"	"r.(?)"	"p.(Ala406Glnfs*47)"	""
"0000871276"	"00000196"	"70"	"1214"	"0"	"1215"	"0"	"c.1214_1215ins[MT113356]"	"r.(?)"	"p.(Ala406Glnfs*47)"	""
"0000871277"	"00000196"	"70"	"1214"	"0"	"1215"	"0"	"c.1214_1215ins[MT113356]"	"r.(?)"	"p.(Ala406Glnfs*47)"	""
"0000871278"	"00000196"	"70"	"1214"	"0"	"1215"	"0"	"c.1214_1215ins[MT113356]"	"r.(?)"	"p.(Ala406Glnfs*47)"	""
"0000871279"	"00000196"	"70"	"1214"	"0"	"1215"	"0"	"c.1214_1215ins[MT113356]"	"r.(?)"	"p.(Ala406Glnfs*47)"	""
"0000871280"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000871281"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000871282"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000871283"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000871284"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000871285"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000871286"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000871287"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000871288"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000871296"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000871297"	"00000196"	"70"	""	"0"	""	"0"	"c.(159+1_160-1)_(1110+1_1111-1)"	"r.(?)"	"p.(Leu54_Pro370del)"	""
"0000873450"	"00000196"	"70"	"1772"	"0"	"1772"	"0"	"c.1772C>T"	"r.(?)"	"p.(Ala591Val)"	""
"0000873451"	"00000196"	"70"	"1121"	"0"	"1121"	"0"	"c.1121C>G"	"r.(?)"	"p.(Thr374Ser)"	""
"0000878680"	"00000196"	"70"	"951"	"58"	"951"	"58"	"c.951+58C>T"	"r.951_952ins951+1_951+58"	"p.(Gly318Valfs*62)"	""
"0000878681"	"00000196"	"70"	"951"	"58"	"951"	"58"	"c.951+58C>T"	"r.951_952ins951+1_951+58"	"p.(Gly318Valfs*62)"	""
"0000879958"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000879960"	"00000196"	"70"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000880157"	"00000196"	"90"	"436"	"0"	"436"	"0"	"c.436C>T"	"r.(?)"	"p.(Arg146*)"	""
"0000880168"	"00000196"	"10"	"378"	"0"	"378"	"0"	"c.378G>A"	"r.(?)"	"p.(=)"	""
"0000880169"	"00000196"	"10"	"736"	"-8"	"736"	"-8"	"c.736-8G>C"	"r.(?)"	"p.(=)"	""
"0000880170"	"00000196"	"10"	"1110"	"0"	"1110"	"0"	"c.1110G>A"	"r.(?)"	"p.(=)"	""
"0000880171"	"00000196"	"10"	"1146"	"0"	"1146"	"0"	"c.1146G>C"	"r.(?)"	"p.(=)"	""
"0000880172"	"00000196"	"10"	"1413"	"0"	"1413"	"0"	"c.1413C>T"	"r.(?)"	"p.(=)"	""
"0000880173"	"00000196"	"10"	"1789"	"0"	"1789"	"0"	"c.*7A>G"	"r.(?)"	"p.(=)"	""
"0000890086"	"00000196"	"30"	"124"	"17"	"124"	"17"	"c.124+17A>G"	"r.(=)"	"p.(=)"	""
"0000890087"	"00000196"	"50"	"235"	"0"	"235"	"0"	"c.235G>A"	"r.(?)"	"p.(Glu79Lys)"	""
"0000890088"	"00000196"	"30"	"243"	"0"	"243"	"0"	"c.243G>A"	"r.(?)"	"p.(Pro81=)"	""
"0000890089"	"00000196"	"30"	"432"	"13"	"432"	"13"	"c.432+13C>T"	"r.(=)"	"p.(=)"	""
"0000890090"	"00000196"	"30"	"734"	"0"	"734"	"0"	"c.734C>T"	"r.(?)"	"p.(Pro245Leu)"	""
"0000890091"	"00000196"	"30"	"1035"	"0"	"1035"	"0"	"c.1035C>T"	"r.(?)"	"p.(Ala345=)"	""
"0000890092"	"00000196"	"30"	"1036"	"0"	"1036"	"0"	"c.1036G>A"	"r.(?)"	"p.(Val346Ile)"	""
"0000905975"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000905976"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000909975"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000913664"	"00000196"	"30"	"519"	"-20"	"519"	"-20"	"c.519-20C>G"	"r.(=)"	"p.(=)"	""
"0000915972"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000915995"	"00000196"	"90"	"830"	"0"	"830"	"0"	"c.830G>A"	"r.(?)"	"p.(Arg277Lys)"	"10"
"0000915996"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000916415"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000916594"	"00000196"	"50"	"913"	"0"	"913"	"0"	"c.913G>A"	"r.(?)"	"p.(Gly305Ser)"	"11"
"0000916595"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	"13"
"0000925476"	"00000196"	"30"	"1338"	"0"	"1338"	"0"	"c.1338C>T"	"r.(?)"	"p.(Thr446=)"	""
"0000925477"	"00000196"	"90"	"1339"	"0"	"1339"	"0"	"c.1339G>A"	"r.(?)"	"p.(Ala447Thr)"	""
"0000925478"	"00000196"	"90"	"1447"	"0"	"1447"	"0"	"c.1447C>T"	"r.(?)"	"p.(Arg483Ter)"	""
"0000949762"	"00000196"	"50"	"1313"	"0"	"1313"	"0"	"c.1313C>G"	"r.(?)"	"p.(Thr438Arg)"	""
"0000958040"	"00000196"	"70"	"479"	"0"	"479"	"0"	"c.479G>A"	"r.(?)"	"p.(Arg160Gln)"	""
"0000958538"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000958844"	"00000196"	"70"	"526"	"0"	"526"	"0"	"c.526C>T"	"r.(?)"	"p.(Gln176Ter)"	""
"0000958948"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000958966"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0000959386"	"00000196"	"50"	"670"	"0"	"670"	"0"	"c.670G>A"	"r.(?)"	"p.(Glu224Lys)"	""
"0000959410"	"00000196"	"50"	"670"	"0"	"670"	"0"	"c.670G>A"	"r.(?)"	"p.(Glu224Lys)"	""
"0000979767"	"00000196"	"30"	"1338"	"0"	"1338"	"0"	"c.1338C>T"	"r.(?)"	"p.(Thr446=)"	""
"0000999329"	"00000196"	"90"	"871"	"0"	"871"	"0"	"c.871C>T"	"r.(?)"	"p.(Gln291*)"	""
"0000999330"	"00000196"	"50"	"9462"	"0"	"9462"	"0"	"c.*7680G>A"	"r.(=)"	"p.(=)"	""
"0001026051"	"00000196"	"50"	"904"	"0"	"904"	"0"	"c.904C>A"	"r.(?)"	"p.(Leu302Ile)"	""
"0001029385"	"00000196"	"90"	"1696"	"-2"	"1696"	"-2"	"c.1696-2A>G"	"r.(?)"	"p.(?)"	""
"0001030095"	"00000196"	"50"	"437"	"0"	"437"	"0"	"c.437G>C"	"r.(?)"	"p.(Arg146Pro)"	""
"0001038622"	"00000196"	"50"	"175"	"0"	"175"	"0"	"c.175C>G"	"r.(?)"	"p.(Leu59Val)"	""
"0001038623"	"00000196"	"50"	"751"	"0"	"751"	"0"	"c.751C>G"	"r.(?)"	"p.(Leu251Val)"	""
"0001038624"	"00000196"	"50"	"785"	"0"	"785"	"0"	"c.785G>C"	"r.(?)"	"p.(Arg262Pro)"	""
"0001038625"	"00000196"	"50"	"9515"	"0"	"9515"	"0"	"c.*7733G>A"	"r.(=)"	"p.(=)"	""
"0001053940"	"00000196"	"50"	"19"	"0"	"19"	"0"	"c.19T>A"	"r.(?)"	"p.(Ser7Thr)"	""
"0001053941"	"00000196"	"70"	"48"	"-2"	"48"	"-2"	"c.48-2A>C"	"r.spl?"	"p.?"	""
"0001053942"	"00000196"	"50"	"194"	"0"	"194"	"0"	"c.194A>G"	"r.(?)"	"p.(Gln65Arg)"	""
"0001053943"	"00000196"	"50"	"299"	"0"	"299"	"0"	"c.299G>A"	"r.(?)"	"p.(Arg100Gln)"	""
"0001053944"	"00000196"	"90"	"1447"	"0"	"1447"	"0"	"c.1447C>T"	"r.(?)"	"p.(Arg483Ter)"	""
"0001058485"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0001058486"	"00000196"	"90"	"1169"	"0"	"1169"	"0"	"c.1169T>G"	"r.(?)"	"p.(Met390Arg)"	""
"0001059381"	"00000196"	"90"	"125"	"-1"	"518"	"1"	"c.(124+1_125-1)_(518+1_519-1)del"	"r.?"	"p.?"	"2i_6i"
"0001065521"	"00000196"	"50"	"1736"	"0"	"1736"	"0"	"c.1736G>T"	"r.(?)"	"p.(Ser579Ile)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 628
"{{screeningid}}"	"{{variantid}}"
"0000000029"	"0000000161"
"0000000029"	"0000000162"
"0000000070"	"0000730373"
"0000001590"	"0000019485"
"0000001591"	"0000019486"
"0000081214"	"0000129978"
"0000081531"	"0000000161"
"0000081532"	"0000000162"
"0000088290"	"0000141622"
"0000145016"	"0000788329"
"0000156247"	"0000358169"
"0000156248"	"0000358170"
"0000156249"	"0000358171"
"0000208855"	"0000438861"
"0000208855"	"0000438862"
"0000234317"	"0000477025"
"0000234318"	"0000477026"
"0000234319"	"0000477027"
"0000234320"	"0000477028"
"0000234321"	"0000477029"
"0000234322"	"0000477030"
"0000234323"	"0000477031"
"0000234324"	"0000477032"
"0000234325"	"0000477033"
"0000234326"	"0000477034"
"0000234327"	"0000477035"
"0000234328"	"0000477036"
"0000234329"	"0000477037"
"0000234330"	"0000477038"
"0000234331"	"0000477039"
"0000234332"	"0000477040"
"0000270577"	"0000604351"
"0000270577"	"0000604352"
"0000291649"	"0000648338"
"0000291650"	"0000648339"
"0000309620"	"0000684493"
"0000309782"	"0000684655"
"0000310098"	"0000685009"
"0000310099"	"0000685010"
"0000310100"	"0000685011"
"0000310101"	"0000685012"
"0000328607"	"0000712560"
"0000328607"	"0000712562"
"0000328610"	"0000712563"
"0000328610"	"0000712564"
"0000329145"	"0000713268"
"0000329156"	"0000713279"
"0000329178"	"0000713301"
"0000329287"	"0000713410"
"0000329298"	"0000713421"
"0000329298"	"0000713767"
"0000329404"	"0000713527"
"0000329432"	"0000713555"
"0000329698"	"0000714055"
"0000329720"	"0000714077"
"0000332953"	"0000730340"
"0000332953"	"0000730360"
"0000333413"	"0000731039"
"0000333420"	"0000731053"
"0000333430"	"0000731075"
"0000334621"	"0000732553"
"0000335033"	"0000733042"
"0000335034"	"0000733043"
"0000335035"	"0000733044"
"0000335117"	"0000733126"
"0000335118"	"0000733127"
"0000335146"	"0000733155"
"0000335295"	"0000733304"
"0000335295"	"0000733703"
"0000335296"	"0000733305"
"0000335296"	"0000733704"
"0000335297"	"0000733306"
"0000335298"	"0000733307"
"0000335299"	"0000733308"
"0000335300"	"0000733309"
"0000335301"	"0000733310"
"0000335302"	"0000733311"
"0000335303"	"0000733312"
"0000335304"	"0000733313"
"0000335305"	"0000733314"
"0000335306"	"0000733315"
"0000335307"	"0000733316"
"0000335307"	"0000733705"
"0000336312"	"0000735587"
"0000336312"	"0000735714"
"0000336313"	"0000735588"
"0000336313"	"0000735715"
"0000336314"	"0000735589"
"0000336314"	"0000735716"
"0000359949"	"0000759580"
"0000359949"	"0000759612"
"0000360040"	"0000759690"
"0000360040"	"0000759706"
"0000360041"	"0000759691"
"0000360041"	"0000759711"
"0000360042"	"0000759692"
"0000360042"	"0000759713"
"0000360043"	"0000759693"
"0000360043"	"0000759715"
"0000360093"	"0000759792"
"0000360103"	"0000759804"
"0000360184"	"0000759971"
"0000360205"	"0000760047"
"0000360262"	"0000760154"
"0000360263"	"0000760155"
"0000360264"	"0000760156"
"0000360611"	"0000760653"
"0000360611"	"0000760675"
"0000360614"	"0000760656"
"0000360614"	"0000760677"
"0000363287"	"0000763861"
"0000363287"	"0000763862"
"0000363289"	"0000763863"
"0000363289"	"0000763864"
"0000363290"	"0000763865"
"0000363290"	"0000763866"
"0000363291"	"0000763867"
"0000363291"	"0000763868"
"0000364654"	"0000765529"
"0000364655"	"0000765530"
"0000364657"	"0000765532"
"0000374602"	"0000785394"
"0000375054"	"0000786321"
"0000375056"	"0000786322"
"0000375082"	"0000786349"
"0000375112"	"0000786407"
"0000375168"	"0000786463"
"0000376176"	"0000787743"
"0000378004"	"0000790454"
"0000380547"	"0000793690"
"0000380548"	"0000793691"
"0000380549"	"0000793692"
"0000380550"	"0000793693"
"0000380551"	"0000793694"
"0000380552"	"0000793695"
"0000380553"	"0000793696"
"0000380760"	"0000793952"
"0000380771"	"0000793965"
"0000380866"	"0000794088"
"0000380866"	"0000794886"
"0000381397"	"0000794832"
"0000381576"	"0000795047"
"0000381577"	"0000795049"
"0000382445"	"0000796269"
"0000382917"	"0000796877"
"0000382918"	"0000796878"
"0000383426"	"0000797516"
"0000383426"	"0000797517"
"0000383427"	"0000797518"
"0000383428"	"0000797519"
"0000383428"	"0000797520"
"0000383695"	"0000797932"
"0000383696"	"0000797933"
"0000383697"	"0000797934"
"0000383698"	"0000797935"
"0000383699"	"0000797936"
"0000383814"	"0000798078"
"0000384282"	"0000810850"
"0000384298"	"0000810884"
"0000384328"	"0000810940"
"0000384329"	"0000810941"
"0000384330"	"0000810942"
"0000384330"	"0000810943"
"0000384331"	"0000810944"
"0000384331"	"0000810945"
"0000384332"	"0000810946"
"0000384332"	"0000810947"
"0000384333"	"0000810948"
"0000384362"	"0000810981"
"0000384367"	"0000810986"
"0000384411"	"0000811039"
"0000384411"	"0000811040"
"0000384414"	"0000811045"
"0000384414"	"0000811046"
"0000384415"	"0000811047"
"0000384416"	"0000811048"
"0000384428"	"0000811070"
"0000384429"	"0000811072"
"0000384432"	"0000811078"
"0000384432"	"0000811080"
"0000384433"	"0000811081"
"0000384434"	"0000811082"
"0000384435"	"0000811083"
"0000384436"	"0000811084"
"0000384436"	"0000811085"
"0000384437"	"0000811086"
"0000384437"	"0000811088"
"0000384438"	"0000811089"
"0000384438"	"0000811090"
"0000384439"	"0000811091"
"0000384439"	"0000811092"
"0000384440"	"0000811093"
"0000384441"	"0000811094"
"0000384441"	"0000811095"
"0000384442"	"0000811096"
"0000384442"	"0000811097"
"0000384443"	"0000811098"
"0000384443"	"0000811099"
"0000384443"	"0000811100"
"0000384443"	"0000811101"
"0000384444"	"0000811102"
"0000384445"	"0000811103"
"0000384517"	"0000811219"
"0000384527"	"0000811238"
"0000384529"	"0000811241"
"0000384530"	"0000811242"
"0000384553"	"0000811265"
"0000384553"	"0000811267"
"0000384554"	"0000811266"
"0000384554"	"0000811268"
"0000384555"	"0000811270"
"0000384556"	"0000811272"
"0000384557"	"0000811274"
"0000384559"	"0000811277"
"0000384561"	"0000811279"
"0000384563"	"0000811281"
"0000384571"	"0000811289"
"0000384576"	"0000811294"
"0000384576"	"0000811295"
"0000384577"	"0000811296"
"0000384577"	"0000811297"
"0000384578"	"0000811298"
"0000384579"	"0000811299"
"0000384580"	"0000811300"
"0000384580"	"0000811301"
"0000384581"	"0000811302"
"0000384581"	"0000811303"
"0000384586"	"0000811311"
"0000384586"	"0000811312"
"0000384587"	"0000811314"
"0000384587"	"0000811315"
"0000384588"	"0000811317"
"0000384589"	"0000811318"
"0000384590"	"0000811320"
"0000384591"	"0000811321"
"0000384592"	"0000811325"
"0000384596"	"0000811336"
"0000384599"	"0000811342"
"0000384688"	"0000811450"
"0000384689"	"0000811451"
"0000384690"	"0000811452"
"0000384690"	"0000811455"
"0000384882"	"0000811712"
"0000384886"	"0000811705"
"0000384886"	"0000811714"
"0000385347"	"0000812356"
"0000385347"	"0000812357"
"0000385348"	"0000812358"
"0000385430"	"0000812478"
"0000385885"	"0000813048"
"0000385886"	"0000813049"
"0000385887"	"0000813050"
"0000385888"	"0000813051"
"0000385889"	"0000813052"
"0000385890"	"0000813053"
"0000385891"	"0000813054"
"0000385892"	"0000813055"
"0000385893"	"0000813056"
"0000385894"	"0000813057"
"0000385894"	"0000813058"
"0000385895"	"0000813059"
"0000385895"	"0000813060"
"0000385896"	"0000813061"
"0000385940"	"0000813132"
"0000385952"	"0000813153"
"0000385961"	"0000813173"
"0000385961"	"0000813174"
"0000385962"	"0000813176"
"0000386010"	"0000813231"
"0000386011"	"0000813233"
"0000386012"	"0000813234"
"0000386013"	"0000813235"
"0000386014"	"0000813236"
"0000386027"	"0000813251"
"0000386028"	"0000813253"
"0000386029"	"0000813254"
"0000386029"	"0000813255"
"0000386030"	"0000813259"
"0000386030"	"0000813260"
"0000386031"	"0000813261"
"0000386032"	"0000813262"
"0000386033"	"0000813263"
"0000386039"	"0000813273"
"0000386040"	"0000813275"
"0000386044"	"0000813279"
"0000386051"	"0000813294"
"0000386052"	"0000813295"
"0000386056"	"0000813302"
"0000386057"	"0000813304"
"0000386060"	"0000813318"
"0000386063"	"0000813325"
"0000386064"	"0000813327"
"0000386065"	"0000813330"
"0000386379"	"0000813871"
"0000386380"	"0000813872"
"0000386381"	"0000813873"
"0000386381"	"0000813874"
"0000386397"	"0000813893"
"0000386398"	"0000813894"
"0000386407"	"0000813906"
"0000386408"	"0000813908"
"0000386409"	"0000813910"
"0000386409"	"0000813911"
"0000386415"	"0000813926"
"0000386416"	"0000813927"
"0000386417"	"0000813928"
"0000386418"	"0000813929"
"0000386419"	"0000813930"
"0000386420"	"0000813931"
"0000386421"	"0000813932"
"0000386422"	"0000813933"
"0000386423"	"0000813934"
"0000386424"	"0000813935"
"0000386425"	"0000813936"
"0000386426"	"0000813937"
"0000386427"	"0000813938"
"0000386428"	"0000813939"
"0000386429"	"0000813940"
"0000386429"	"0000813941"
"0000386430"	"0000813942"
"0000386430"	"0000813943"
"0000386457"	"0000813980"
"0000386468"	"0000814001"
"0000386470"	"0000814004"
"0000386470"	"0000814005"
"0000386475"	"0000814013"
"0000386477"	"0000814015"
"0000386478"	"0000814017"
"0000386502"	"0000814049"
"0000386503"	"0000814050"
"0000386506"	"0000814053"
"0000386507"	"0000814054"
"0000386508"	"0000814055"
"0000386509"	"0000814056"
"0000386517"	"0000814080"
"0000386518"	"0000814081"
"0000386519"	"0000814082"
"0000386520"	"0000814083"
"0000386521"	"0000814084"
"0000386522"	"0000814085"
"0000386523"	"0000814086"
"0000386524"	"0000814087"
"0000386524"	"0000814088"
"0000386525"	"0000814089"
"0000386525"	"0000814090"
"0000386526"	"0000814091"
"0000386526"	"0000814092"
"0000386527"	"0000814093"
"0000386528"	"0000814094"
"0000386546"	"0000814118"
"0000386547"	"0000814120"
"0000386547"	"0000814121"
"0000386548"	"0000814122"
"0000386549"	"0000814123"
"0000386549"	"0000814125"
"0000386549"	"0000814126"
"0000386550"	"0000814127"
"0000386551"	"0000814128"
"0000386552"	"0000814130"
"0000386552"	"0000814131"
"0000386553"	"0000814133"
"0000386553"	"0000814134"
"0000386554"	"0000814135"
"0000386555"	"0000814137"
"0000386555"	"0000814138"
"0000386556"	"0000814139"
"0000386556"	"0000814140"
"0000386557"	"0000814141"
"0000386557"	"0000814142"
"0000386558"	"0000814143"
"0000386559"	"0000814144"
"0000386566"	"0000814157"
"0000386591"	"0000814198"
"0000386603"	"0000814222"
"0000386613"	"0000814246"
"0000386614"	"0000814247"
"0000386617"	"0000814251"
"0000386791"	"0000814522"
"0000386791"	"0000814523"
"0000386801"	"0000814538"
"0000386801"	"0000814539"
"0000386802"	"0000814540"
"0000386802"	"0000814541"
"0000386803"	"0000814542"
"0000386803"	"0000814543"
"0000386803"	"0000814544"
"0000386804"	"0000814545"
"0000386804"	"0000814546"
"0000386804"	"0000814547"
"0000386818"	"0000814572"
"0000386820"	"0000814574"
"0000386821"	"0000814576"
"0000386822"	"0000814577"
"0000386823"	"0000814578"
"0000386851"	"0000814630"
"0000386851"	"0000814631"
"0000386852"	"0000814632"
"0000386852"	"0000814633"
"0000386853"	"0000814634"
"0000386853"	"0000814635"
"0000386869"	"0000814664"
"0000386869"	"0000814666"
"0000387830"	"0000815988"
"0000387830"	"0000816332"
"0000387937"	"0000816095"
"0000387937"	"0000816420"
"0000388074"	"0000816232"
"0000388074"	"0000816522"
"0000388089"	"0000816247"
"0000388089"	"0000816532"
"0000388357"	"0000816817"
"0000388668"	"0000817395"
"0000388669"	"0000817396"
"0000388670"	"0000817397"
"0000388671"	"0000817399"
"0000388672"	"0000817400"
"0000388673"	"0000817401"
"0000388674"	"0000817402"
"0000388675"	"0000817403"
"0000388676"	"0000817404"
"0000388677"	"0000817405"
"0000388678"	"0000817406"
"0000388679"	"0000817407"
"0000388680"	"0000817408"
"0000388681"	"0000817409"
"0000388682"	"0000817410"
"0000388683"	"0000817411"
"0000388684"	"0000817412"
"0000388685"	"0000817413"
"0000388686"	"0000817414"
"0000388687"	"0000817416"
"0000388688"	"0000817417"
"0000388688"	"0000817418"
"0000388689"	"0000817419"
"0000388689"	"0000817420"
"0000388690"	"0000817421"
"0000388690"	"0000817422"
"0000388691"	"0000817423"
"0000388691"	"0000817424"
"0000388692"	"0000817425"
"0000388692"	"0000817426"
"0000388693"	"0000817427"
"0000388693"	"0000817428"
"0000388694"	"0000817429"
"0000388694"	"0000817430"
"0000388695"	"0000817431"
"0000388695"	"0000817432"
"0000388696"	"0000817433"
"0000388696"	"0000817434"
"0000388697"	"0000817435"
"0000388697"	"0000817436"
"0000388698"	"0000817437"
"0000388698"	"0000817438"
"0000388699"	"0000817439"
"0000388699"	"0000817440"
"0000388700"	"0000817441"
"0000388700"	"0000817442"
"0000388780"	"0000817538"
"0000388808"	"0000817566"
"0000388809"	"0000817567"
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