### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = RDH5)
# 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}}"
"RDH5"	"retinol dehydrogenase 5 (11-cis/9-cis)"	"12"	"q13-q14"	"unknown"	"NG_008606.1"	"UD_132084509651"	""	"https://www.LOVD.nl/RDH5"	""	"1"	"9940"	"5959"	"601617"	"1"	"1"	"1"	"1"	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>\r\nEstablishment of this gene variant database (LSDB) was supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland."	""	"g"	"https://databases.lovd.nl/shared/refseq/RDH5_NM_002905.3_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>"	"-1"	""	"-1"	"00001"	"2012-07-04 00:00:00"	"00006"	"2018-08-20 16:26:52"	"00006"	"2024-05-31 11:42:04"


## 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}}"
"00017591"	"RDH5"	"transcript variant 2"	"002"	"NM_002905.3"	""	"NP_002896.2"	""	""	""	"-183"	"1154"	"957"	"56114151"	"56118526"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 8
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00112"	"RP"	"retinitis pigmentosa (RP)"	""	"268000"	""	""	""	"00001"	"2013-02-21 17:12:36"	"00006"	"2021-01-18 09:53:26"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"00381"	"RD"	"dystrophy, retinal (RD)"	""	""	""	""	""	"00006"	"2014-05-09 11:59:52"	"00006"	"2015-12-07 07:11:25"
"01339"	"-"	"fundus albipunctatus (retinitis punctata albescens (RPA))"	"AD;AR"	"136880"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2019-12-17 16:27:42"
"01788"	"FRFB"	"Fleck retina, familial benign (FRFB)"	"AR"	"228980"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2020-11-25 19:50:19"
"04213"	"COD"	"dystrophy, cone (COD)"	""	""	""	""	""	"00006"	"2015-02-27 19:22:18"	""	""
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"
"04249"	"macular dystrophy"	"dystrophy, macular"	""	""	""	""	""	"00006"	"2015-05-04 22:10:58"	"00006"	"2024-02-15 21:18:39"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"RDH5"	"01339"


## Individuals ## Do not remove or alter this header ##
## Count = 224
"{{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}}"
"00001815"	""	""	""	"1"	""	"00102"	""	""	""	""	"(United States)"	""	"0"	""	""	""	""
"00087953"	""	""	""	"1"	""	"00234"	"{PMID:Sergouniotis 2011:21529959}"	"?"	"F"	"?"	""	""	"0"	""	""	"Europe-C"	""
"00087954"	""	""	""	"1"	""	"00234"	"{PMID:Schatz 2010:20829743}"	"?"	"M"	"no"	"Germany"	""	"0"	""	""	"German"	""
"00087955"	""	""	""	"1"	""	"00234"	"{PMID:Ruther 2004:14991316}"	"3 generation family, 1 affected"	"F"	"no"	"Germany"	""	"0"	""	""	"German"	""
"00087956"	""	""	""	"1"	""	"00234"	"{PMID:Sergouniotis 2011:21529959}"	"?"	"M"	"?"	""	""	"0"	""	""	"Europe-C"	""
"00087957"	""	""	""	"1"	""	"00234"	"{PMID:Nakamura 2000:11053295}, {PMID:Nakamura 2003:12906118}"	"Case 12 and Case 13 are brothers"	"M"	"?"	"Japan"	""	"0"	""	""	"Unknown"	""
"00087958"	""	""	""	"1"	""	"00234"	"{PMID:Nakamura 2000:11053295}, {PMID:Nakamura 2003:12906118}"	"Case 12 and Case 13 are brothers"	"M"	"?"	"Japan"	""	"0"	""	""	"Unknown"	""
"00087959"	""	""	""	"1"	""	"00234"	"{PMID:Wada 2001:11448328}"	"3 generation family, 1 affected, 3 carriers"	"M"	"?"	"Japan"	""	"0"	""	""	"Unknown"	""
"00087960"	""	""	""	"1"	""	"00234"	"{PMID:Querques 2009:19433727}"	"?"	"F"	"?"	"Italy"	""	"0"	""	""	"Unknown"	""
"00087961"	""	""	""	"1"	""	"00234"	"{PMID:Nakamura 2000:11053295}, {PMID:Nakamura 2003:12906118}"	"?"	"F"	"?"	"Japan"	""	"0"	""	""	"Unknown"	""
"00087962"	""	""	""	"1"	""	"00234"	"{PMID:Niwa 2005:15790919}"	"?"	"F"	"?"	"Japan"	""	"0"	""	""	"Unknown"	""
"00087963"	""	""	""	"1"	""	"00234"	"{PMID:Niwa 2005:15790919}"	"?"	"M"	"?"	"Japan"	""	"0"	""	""	"Unknown"	""
"00087964"	""	""	""	"1"	""	"00234"	"{PMID:Niwa 2005:15790919}"	"?"	"F"	"?"	"Japan"	""	"0"	""	""	"Unknown"	""
"00087965"	""	""	""	"1"	""	"00234"	"{PMID:Driessen 2001:11470705}"	"2 generation family, 1 affected"	"F"	"?"	"Netherlands"	""	"0"	""	""	"Unknown"	""
"00087966"	""	""	""	"1"	""	"00234"	"{PMID:Driessen 2001:11470705}"	"2 generation family, 1 affected"	"F"	"?"	"Netherlands"	""	"0"	""	""	"Unknown"	""
"00087967"	""	""	""	"1"	""	"00234"	"{PMID:Yamamoto 1999:10369264}"	"2 generation family, 1 affected"	"M"	"?"	"United States"	""	"0"	""	""	"Unknown"	""
"00087968"	""	""	""	"1"	""	"00234"	"{PMID:Sergouniotis 2011:21529959}"	"Asia; South"	"M"	"?"	""	""	"0"	""	""	"Unknown"	""
"00087969"	""	""	""	"1"	""	"00234"	"{PMID:Hotta 2003:12788147}"	"2 affected"	"M"	"yes"	"Japan"	""	"0"	""	""	"Unknown"	""
"00087970"	""	""	""	"1"	""	"00234"	"{PMID:Hotta 2003:12788147}"	"2 affected"	"F"	"yes"	"Japan"	""	"0"	""	""	"Unknown"	""
"00087971"	""	""	""	"1"	""	"00234"	"{PMID:Sato 2004:15007239}"	"?"	"?"	"?"	"Japan"	""	"0"	""	""	"Unknown"	""
"00087972"	""	""	""	"1"	""	"00234"	"{PMID:Nakamura 2000:11053295}"	"?"	"M"	"?"	"Japan"	""	"0"	""	""	"Unknown"	""
"00087973"	""	""	""	"1"	""	"00234"	"{PMID:Sergouniotis 2011:21529959}"	"Asia; South"	"F"	"?"	""	""	"0"	""	""	"Unknown"	""
"00087974"	""	""	""	"1"	""	"00234"	"{PMID:Sergouniotis 2011 :21529959}"	"?"	"M"	"?"	""	""	"0"	""	""	"Europe-C"	""
"00087975"	""	""	""	"1"	""	"00234"	"{PMID:Schatz 2010:20829743}"	"Middle Eastern"	"F"	"?"	""	""	"0"	""	""	"Unknown"	""
"00087976"	""	""	""	"1"	""	"00234"	"{PMID:Iannaccone 2007:17476461}"	"(Hispanic-American)"	"F"	"yes"	""	""	"0"	""	""	"(Arabic Muslim)"	""
"00087977"	""	""	""	"4"	""	"00234"	"{PMID:Nakamura 2000:11053295}, {PMID:Nakamura 2003:12906118}"	"?"	"F"	"?"	"Japan"	""	"0"	""	""	"Unknown"	""
"00087978"	""	""	""	"4"	""	"00234"	"{PMID:Nakamura 2004:15302662}, {PMID:Niwa 2005:15790919}"	"4 generation family, 2 affected"	"F"	"yes"	"Japan"	""	"0"	""	""	"Unknown"	""
"00087979"	""	""	""	"4"	""	"00234"	"{PMID:Nakamura 2004:15302662}, {PMID:Niwa 2005:15790919}"	"4 generation family, 2 affected"	"F"	"yes"	"Japan"	""	"0"	""	""	"Unknown"	""
"00087980"	""	""	""	"1"	""	"00234"	"{PMID:Sergouniotis 2011:21529959}"	"Middle Eastern"	"M"	"?"	""	""	"0"	""	""	"Unknown"	""
"00087981"	""	""	""	"1"	""	"00234"	"{PMID:Sergouniotis 2011:21529959}"	"Asia; South"	"M"	"?"	""	""	"0"	""	""	"Unknown"	""
"00087982"	""	""	""	"1"	""	"00234"	"{PMID:Hajali 2009:18949499}"	"?"	"F"	"?"	""	""	"0"	""	""	"white"	""
"00087983"	""	""	""	"1"	""	"00234"	"{PMID:Yamamoto 2003:12967826}"	"?"	"M"	"?"	"Japan"	""	"0"	""	""	"Unknown"	""
"00087984"	""	""	""	"1"	""	"00234"	"{PMID:Kuroiwa 2000:11078852}"	"6 generation family, 1 affected , 2 affected with RP"	"M"	"no"	"Japan"	""	"0"	""	""	"Unknown"	""
"00087985"	""	""	""	"1"	""	"00234"	"{PMID:Hayashi 2006:16637847}"	"3 generation family, 1 affected, 3 carriers"	"M"	"no"	"Japan"	""	"0"	""	""	"Unknown"	""
"00087986"	""	""	""	"1"	""	"00234"	"{PMID:Schatz 2010:20829743}"	"Scandinavia"	"F"	"yes"	""	""	"0"	""	""	"Unknown"	""
"00087987"	""	""	""	"1"	""	"00234"	"{PMID:Wang 2008:18363170}"	"3 generation family, 1 affected with FA, 3 affected with RP"	"F"	"?"	"Japan"	""	"0"	""	""	"Unknown"	""
"00087988"	""	""	""	"1"	""	"00234"	"{PMID:Yamamoto 1999:10369264}"	"2 generation family, 2 affected, 3 carrier"	"F"	"no"	"Canada"	""	"0"	""	""	"Unknown"	""
"00087989"	""	""	""	"1"	""	"00234"	"{PMID:Yamamoto 1999:10369264}"	"2 generation family, 2 affected, 3 carrier"	"M"	"no"	"Canada"	""	"0"	""	""	"Unknown"	""
"00087990"	""	""	""	"1"	""	"00234"	"{PMID:Gonzalez-Fernandez 1999:10617778}"	"2 generation family, 2 affected"	"F"	"yes"	"Greece"	""	"0"	""	""	"Unknown"	""
"00087991"	""	""	""	"1"	""	"00234"	"{PMID:Gonzalez-Fernandez 1999:10617778}"	"2 generation family, 2 affected"	"F"	"yes"	"Greece"	""	"0"	""	""	"Unknown"	""
"00087992"	""	""	""	"1"	""	"00234"	"{PMID:Sergouniotis 2011:21529959}"	"Asia; South"	"F"	"?"	""	""	"0"	""	""	"Unknown"	""
"00087993"	""	""	""	"1"	""	"00234"	"{PMID:Nakamura 2000:11053295}"	"?"	"M"	"?"	"Japan"	""	"0"	""	""	"Unknown"	""
"00087994"	""	""	""	"1"	""	"00234"	"{PMID:Niwa 2005:15790919}"	"?"	"M"	"?"	"Japan"	""	"0"	""	""	"Unknown"	""
"00087995"	""	""	""	"1"	""	"00234"	"{PMID:Ajmal 2012:3380946}"	"7 generation family, 5 affecteds, 4 unaffected carriers"	"F"	"yes"	"Pakistan"	""	"0"	""	""	"Unknown"	""
"00087996"	""	""	""	"1"	""	"00234"	"{PMID:Ajmal 2012:3380946}"	"7 generation family, 5 affecteds, 4 unaffected carriers"	"F"	"yes"	"Pakistan"	""	"0"	""	""	"Unknown"	""
"00087997"	""	""	""	"1"	""	"00234"	"{PMID:Ajmal 2012:3380946}"	"7 generation family, 5 affecteds, 4 unaffected carriers"	"M"	"yes"	"Pakistan"	""	"0"	""	""	"Unknown"	""
"00087998"	""	""	""	"1"	""	"00234"	"{PMID:Ajmal 2012:3380946}"	"7 generation family, 5 affecteds, 4 unaffected carriers"	"F"	"yes"	"Pakistan"	""	"0"	""	""	"Unknown"	""
"00087999"	""	""	""	"1"	""	"00234"	"{PMID:Ajmal 2012:3380946}"	"7 generation family, 5 affecteds, 4 unaffected carriers"	"F"	"yes"	"Pakistan"	""	"0"	""	""	"Unknown"	""
"00088000"	""	""	""	"1"	""	"00234"	"{PMID:Hirose 2000:11053296}"	"3 generation family, 3 affected, 1 unaffected carrier"	"F"	"yes"	"Japan"	""	"0"	""	""	"Unknown"	""
"00088001"	""	""	""	"1"	""	"00234"	"{PMID:Hirose 2000:11053296}"	"3 generation family, 3 affected, 1 unaffected carrier"	"F"	"yes"	"Japan"	""	"0"	""	""	"Unknown"	""
"00088002"	""	""	""	"1"	""	"00234"	"{PMID:Hirose 2000:11053296}"	"3 generation family, 3 affected, 1 unaffected carrier"	"F"	"yes"	"Japan"	""	"0"	""	""	"Unknown"	""
"00088003"	""	""	""	"1"	""	"00234"	"{PMID:Sergouniotis 2011:21529959}"	"Middle Eastern"	"F"	"?"	""	""	"0"	""	""	"Unknown"	""
"00088004"	""	""	""	"1"	""	"00234"	"{PMID:Gonzalez-Fernandez 1999:10617778}"	"2 affected"	"M"	"no"	"United States"	""	"0"	""	""	"German"	""
"00088005"	""	""	""	"1"	""	"00234"	"{PMID:Gonzalez-Fernandez 1999:10617778}"	"2 affected"	"F"	"no"	"United States"	""	"0"	""	""	"German"	""
"00088006"	""	""	""	"1"	""	"00234"	"{PMID:Nakamura 2000:11053295}, {PMID:Nakamura 2003:12906118}"	"?"	"F"	"?"	"Japan"	""	"0"	""	""	"Unknown"	""
"00088007"	""	""	""	"1"	""	"00234"	"{PMID:Sato 2004:15007239}"	"?"	"?"	"?"	"Japan"	""	"0"	""	""	"Unknown"	""
"00088008"	""	""	""	"1"	""	"00234"	"{PMID:Niwa 2005:15790919}"	"?"	"M"	"?"	"Japan"	""	"0"	""	""	"Unknown"	""
"00088009"	""	""	""	"1"	""	"00234"	"{PMID:Niwa 2005:15790919}"	"?"	"F"	"?"	"Japan"	""	"0"	""	""	"Unknown"	""
"00088010"	""	""	""	"1"	""	"00234"	"{PMID:Nakamura 2002:11812441}"	"No Family Member had Eye Disease"	"M"	"?"	"Japan"	""	"0"	""	""	"Unknown"	""
"00088011"	""	""	""	"1"	""	"00234"	"{PMID:Niwa 2005:15790919}"	"?"	"M"	"?"	"Japan"	""	"0"	""	""	"Unknown"	""
"00088012"	""	""	""	"1"	""	"00234"	"{PMID:Schatz 2010:20829743}"	"Middle Eastern"	"M"	"no"	""	""	"0"	""	""	"Unknown"	""
"00088013"	""	""	""	"1"	""	"00234"	"{PMID:Ajmal 2012:3380946}"	"4 generation family, 2 affecteds, 3 unaffected carriers"	"M"	"yes"	"Pakistan"	""	"0"	""	""	"Unknown"	""
"00088014"	""	""	""	"1"	""	"00234"	"{PMID:Ajmal 2012:3380946}"	"4 generation family, 2 affecteds, 3 unaffected carriers"	"M"	"yes"	"Pakistan"	""	"0"	""	""	"Unknown"	""
"00088015"	""	""	""	"1"	""	"00234"	"{PMID:Hirose 2000:11053296}"	"2 generation family, 1 affected."	"F"	"no"	"Japan"	""	"0"	""	""	"Unknown"	""
"00088016"	""	""	""	"1"	""	"00234"	"{PMID:Nakamura 2000:11053295}, {PMID:Nakamura 2003:12906118}"	"?"	"M"	"no"	"Japan"	""	"0"	""	""	"Unknown"	""
"00088017"	""	""	""	"1"	""	"00234"	"{PMID:Nakamura 2000:11053295}, {PMID:Nakamura 2003:12906118}"	"?"	"M"	"no"	"Japan"	""	"0"	""	""	"Unknown"	""
"00088018"	""	""	""	"1"	""	"00234"	"{PMID:Nakamura 2000:11053295}, {PMID:Nakamura 2003:12906118}"	"?"	"M"	"no"	"Japan"	""	"0"	""	""	"Unknown"	""
"00088019"	""	""	""	"1"	""	"00234"	"{PMID:Nakamura 2000:11053295}, {PMID:Nakamura 2003:12906118}"	"?"	"M"	"no"	"Japan"	""	"0"	""	""	"Unknown"	""
"00088020"	""	""	""	"1"	""	"00234"	"{PMID:Wada 2000:10845614}"	"2 generation family, 1 affected"	"M"	"no"	"Japan"	""	"0"	""	""	"Unknown"	""
"00088021"	""	""	""	"1"	""	"00234"	"{PMID:Wada 2000:10845614}"	"3 generation family, 2 affected"	"F"	"no"	"Japan"	""	"0"	""	""	"Unknown"	""
"00088022"	""	""	""	"1"	""	"00234"	"{PMID:Wada 2000:10845614}"	"3 generation family, 2 affected"	"F"	"no"	"Japan"	""	"0"	""	""	"Unknown"	""
"00088023"	""	""	""	"1"	""	"00234"	"{PMID:Wada 2000:10845614}"	"3 generation family, 2 affected"	"F"	"no"	"Japan"	""	"0"	""	""	"Unknown"	""
"00088024"	""	""	""	"1"	""	"00234"	"{PMID:Wada 2000:10845614}"	"3 generation family, 2 affected"	"F"	"no"	"Japan"	""	"0"	""	""	"Unknown"	""
"00088025"	""	""	""	"1"	""	"00234"	"{PMID:Wada 2000:10845614}"	"3 generation family, 1 affected"	"M"	"no"	"Japan"	""	"0"	""	""	"Unknown"	""
"00088026"	""	""	""	"1"	""	"00234"	"{PMID:Nakamura 2000:11053295}"	"Case 8 and Case 9 are sister and brother"	"F"	"no"	"Japan"	""	"0"	""	""	"Unknown"	""
"00088027"	""	""	""	"1"	""	"00234"	"{PMID:Nakamura 2000:11053295}"	"Case 8 and Case 9 are sister and brother"	"M"	"no"	"Japan"	""	"0"	""	""	"Unknown"	""
"00088028"	""	""	""	"1"	""	"00234"	"{PMID:Nakamura 2003:12906118}"	"?"	"M"	"no"	"Japan"	""	"0"	""	""	"Unknown"	""
"00088029"	""	""	""	"1"	""	"00234"	"{PMID:Nakamura 2003:12906118}"	"Case#77 and Case#78 are sister and brother"	"F"	"no"	"Japan"	""	"0"	""	""	"Unknown"	""
"00088030"	""	""	""	"1"	""	"00234"	"{PMID:Nakamura 2003:12906118}"	"Case#77 and Case#78 are sister and brother"	"M"	"no"	"Japan"	""	"0"	""	""	"Unknown"	""
"00088031"	""	""	""	"1"	""	"00234"	"{PMID:Nakamura 2003:12906118}"	"?"	"M"	"no"	"Japan"	""	"0"	""	""	"Unknown"	""
"00088032"	""	""	""	"1"	""	"00234"	"{PMID:Nakamura 2003:12906118}"	"?"	"M"	"no"	"Japan"	""	"0"	""	""	"Unknown"	""
"00088033"	""	""	""	"1"	""	"00234"	"{PMID:Nakamura 2003:12906118}"	"?"	"M"	"no"	"Japan"	""	"0"	""	""	"Unknown"	""
"00088034"	""	""	""	"1"	""	"00234"	"{PMID:Niwa 2005:15790919}"	"?"	"F"	"no"	"Japan"	""	"0"	""	""	"Unknown"	""
"00088035"	""	""	""	"1"	""	"00234"	"{PMID:Wang 2012:22669287}"	"3 generation family, 1 affected, 4 unaffected"	"F"	"yes"	"Taiwan"	""	"0"	""	""	"Unknown"	""
"00088036"	""	""	""	"1"	""	"00234"	"{PMID:Pras 2012:22815624}"	"2 affected (Bukhara)"	"?"	"?"	"Uzbekistan"	""	"0"	""	""	""	""
"00088037"	""	""	""	"1"	""	"00234"	"{PMID:Pras 2012:22815624}"	"2 affected (Bukhara)"	"?"	"?"	"Uzbekistan"	""	"0"	""	""	""	""
"00088038"	""	""	""	"1"	""	"00234"	"{PMID:Pras 2012:22815624}"	"?"	"?"	""	"Iraq;Morocco"	""	"0"	""	""	"Iraqi/Morrocan"	""
"00088039"	""	""	""	"1"	""	"00234"	"{PMID:Pras 2012:22815624}"	"?"	"?"	""	"Iran"	""	"0"	""	""	""	""
"00088040"	""	""	""	"1"	""	"00234"	"{PMID:Pras 2012:22815624}"	"3 affected"	"?"	""	"Iraq"	""	"0"	""	""	""	""
"00088041"	""	""	""	"1"	""	"00234"	"{PMID:Pras 2012:22815624}"	"3 affected"	"?"	""	"Iraq"	""	"0"	""	""	""	""
"00088042"	""	""	""	"1"	""	"00234"	"{PMID:Pras 2012:22815624}"	"3 affected"	"?"	""	"Iraq"	""	"0"	""	""	""	""
"00088043"	""	""	""	"1"	""	"00234"	"{PMID:Pras 2012:22815624}"	"?"	"?"	""	"Iraq"	""	"0"	""	""	""	""
"00088044"	""	""	""	"1"	""	"00234"	"{PMID:Pras 2012:22815624}"	"?"	"?"	""	"Iran"	""	"0"	""	""	""	""
"00088045"	""	""	""	"1"	""	"00234"	"{PMID:Pras 2012:22815624}"	"?"	"?"	""	"Iraq"	""	"0"	""	""	""	""
"00088046"	""	""	""	"1"	""	"00234"	"{PMID:Pras 2012:22815624}"	"?"	"?"	""	""	""	"0"	""	""	"Jewish-Ashkenazi"	""
"00088047"	""	""	""	"1"	""	"00234"	"{PMID:Pras 2012:22815624}"	"?"	"?"	""	"Iraq"	""	"0"	""	""	"Jewish-Ashkenazi"	""
"00088048"	""	""	""	"1"	""	"00234"	"{PMID:Pras 2012:22815624}"	"?"	"?"	""	""	""	"0"	""	""	"Jewish-Ashkenazi"	""
"00088049"	""	""	""	"1"	""	"00234"	"{PMID:Pras 2012:22815624}"	"?"	"?"	""	""	""	"0"	""	""	"Arab-Muslim"	""
"00088050"	""	""	""	"1"	""	"00234"	"{PMID:Pras 2012:22815624}"	"?"	"?"	""	""	""	"0"	""	""	"Arab-Muslim"	""
"00088051"	""	""	""	"1"	""	"00234"	"{PMID:Pras 2012:22815624}"	"?"	"?"	""	""	""	"0"	""	""	"Arab-Muslim"	""
"00088052"	""	""	""	"1"	""	"00234"	"{PMID:Pras 2012:22815624}"	"?"	""	""	"Turkey;Iraq"	""	"0"	""	""	""	""
"00088053"	""	""	""	"1"	""	"00234"	"{PMID:Pras 2012:22815624}"	"?"	""	""	"Morocco;India"	""	"0"	""	""	""	""
"00095931"	""	""	""	"1"	""	"01769"	"{PMID:Li 2017:28418496}"	""	"F"	"yes"	"Pakistan"	""	"0"	""	""	"Pakistani"	"61126"
"00100083"	""	""	""	"1"	""	"01769"	"{PMID:Li 2017:28418496}"	""	"F"	"yes"	"Pakistan"	""	"0"	""	""	"Pakistani"	"61035"
"00100105"	""	""	""	"1"	""	"01769"	"{PMID:Li 2017:28418496}"	""	"F"	"yes"	"Pakistan"	""	"0"	""	""	"Pakistani"	"61198"
"00155537"	""	""	""	"1"	""	"01243"	"Sharon, submitted"	""	"M"	"no"	"Israel"	""	"0"	""	""	"Jewish-Ashkenazi"	""
"00155538"	""	""	""	"1"	""	"01243"	"Sharon, submitted"	""	"M"	"no"	"Israel"	""	"0"	""	""	"Jewish-Oriental"	""
"00155539"	""	""	""	"4"	""	"01243"	"Sharon, submitted"	""	"M"	"yes"	"Israel"	""	"0"	""	""	"Arab-Muslim"	""
"00155540"	""	""	""	"1"	""	"01243"	"Sharon, submitted"	""	"M"	"no"	"Israel"	""	"0"	""	""	"Morocco;Jewish"	""
"00155541"	""	""	""	"1"	""	"01243"	"{PMID:Sharon 2019:31456290}"	""	"F"	"yes"	"Israel"	""	"0"	""	""	"Arab-Muslim"	"MOL0901"
"00290760"	""	""	""	"4"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00309343"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309344"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309345"	""	""	""	"11"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"11 IRD families"	""	""	"Israel"	""	"0"	""	""	""	""
"00309346"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309347"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309348"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309349"	""	""	""	"4"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"4 IRD families"	""	""	"Israel"	""	"0"	""	""	""	""
"00309351"	""	""	""	"1"	""	"00004"	"{PMID:Beryozkin 2015:26306921}, {PMID:Sharon 2019:31456290}"	"family"	""	""	"Israel"	""	"0"	""	""	"Arab-Muslim"	"MOL1025"
"00309352"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309353"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309354"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309355"	""	""	""	"4"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"4 IRD families"	""	""	"Israel"	""	"0"	""	""	""	""
"00309356"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309357"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00325412"	""	""	""	"1"	""	"00006"	"{PMID:Zenteno 2020:31736247}"	""	""	""	"Mexico"	""	"0"	""	""	""	"37"
"00325429"	""	""	""	"1"	""	"00006"	"{PMID:Zenteno 2020:31736247}"	"family"	""	""	"Mexico"	""	"0"	""	""	""	"1928"
"00331981"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:29555955}"	"family"	"F"	""	"Germany"	""	"0"	""	""	""	"Pat118"
"00334886"	""	""	""	"1"	""	"00000"	"{PMID:Li 2017:28418496}"	""	""	""	"Pakistan"	""	"0"	""	""	""	"61199"
"00335443"	""	""	""	"1"	""	"00006"	"{PMID:Huang 2018:29641573}"	""	""	""	""	""	"0"	""	""	""	"RP095"
"00359103"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"familial segregation analysis requested"	""	""	""	""	"0"	""	""	""	"13010232"
"00373891"	""	""	""	"1"	""	"00000"	"{PMID:Consugar 2015:25412400}"	""	""	""	"United States"	""	"0"	""	""	""	"OGI-501-1038"
"00377503"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Spain"	""	"0"	""	""	""	"RP-1123"
"00379518"	""	""	""	"1"	""	"00000"	"{PMID:Littink-2012:22559933}"	""	"M"	""	"Netherlands"	""	"0"	""	""	""	""
"00381022"	""	""	""	"1"	""	"00000"	"{PMID:Chen-2013:23462753}"	""	"F"	""	"China"	""	"0"	""	""	"Chinese"	""
"00381607"	""	""	""	"1"	""	"00000"	"{PMID:Eisenberger-2013:24265693}"	""	"F"	"yes"	"Pakistan"	""	"0"	""	""	""	""
"00381722"	""	""	""	"1"	""	"00000"	"{PMID:Wang-2014:24154662}"	""	""	"no"	""	""	"0"	""	""	""	""
"00382591"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"453"
"00382783"	""	""	""	"1"	""	"00000"	"{PMID:Fishman-2004:14718298}"	""	"F"	"yes"	""	""	"0"	""	""	"palestinian"	""
"00384045"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-1898"
"00384060"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-2025"
"00385980"	""	""	""	"9"	""	"00000"	"{PMID:Maranhao-2014:24603341}"	"The parents of all affected members were unaffected."	""	"yes"	"Pakistan"	""	"0"	""	""	"Pakistani"	""
"00386193"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	"family fRPN-147, proband"	"F"	""	"Spain"	""	"0"	""	""	""	"RPN-309"
"00386218"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	"family fRPN-173, proband"	"M"	""	"Spain"	""	"0"	""	""	""	"RPN-342"
"00386224"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	"family fRPN-183, proband"	"F"	""	"Spain"	""	"0"	""	""	""	"RPN-402"
"00386234"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	"family fRPN-198, proband"	"F"	""	"Spain"	""	"0"	""	""	""	"RPN-444"
"00387624"	""	""	""	"1"	""	"00000"	"{PMID:Zanolli 2020:32141364}"	"individual ID not present in paper, consecutive numbers given"	"?"	""	"Chile"	""	"0"	""	""	""	"9"
"00389092"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 125, congenital stationary night blindness, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"376"
"00389353"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 227, unclassified / mixed, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"637"
"00390032"	""	""	""	"1"	""	"00000"	"{PMID:Liu 2020:32562694}"	""	"?"	""	"China"	""	"0"	""	""	""	"G1533"
"00391205"	""	""	""	"1"	""	"00000"	"{PMID:Gliem 2020:32646556}"	""	"F"	""	"(Germany)"	""	"0"	""	""	""	"167"
"00391206"	""	""	""	"1"	""	"00000"	"{PMID:Gliem 2020:32646556}"	""	"F"	""	"(Germany)"	""	"0"	""	""	""	"168"
"00393788"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"M"	""	""	""	"0"	""	""	""	""
"00413906"	""	""	""	"1"	""	"00000"	"{PMID:Cideciyan 2000:11153648}"	""	"M"	""	"United States"	""	"0"	""	""	""	"II:2"
"00413912"	""	""	""	"1"	""	"00000"	"{PMID:Liden 2001:11675386}"	"protein expression and enzymatic activity of naturally occurring RDH5 mutants in COS-1 cells"	""	""	""	""	"0"	""	""	""	"?"
"00413913"	""	""	""	"1"	""	"00000"	"{PMID:Liden 2001:11675386}"	"protein expression and enzymatic activity of naturally occurring RDH5 mutants in COS-1 cells"	""	""	""	""	"0"	""	""	""	"?"
"00413914"	""	""	""	"1"	""	"00000"	"{PMID:Liden 2001:11675386}"	"protein expression and enzymatic activity of naturally occurring RDH5 mutants in COS-1 cells"	""	""	""	""	"0"	""	""	""	"?"
"00413915"	""	""	""	"1"	""	"00000"	"{PMID:Liden 2001:11675386}"	"protein expression and enzymatic activity of naturally occurring RDH5 mutants in COS-1 cells"	""	""	""	""	"0"	""	""	""	"?"
"00413916"	""	""	""	"1"	""	"00000"	"{PMID:Liden 2001:11675386}"	"protein expression and enzymatic activity of naturally occurring RDH5 mutants in COS-1 cells"	""	""	""	""	"0"	""	""	""	"?"
"00413917"	""	""	""	"1"	""	"00000"	"{PMID:Liden 2001:11675386}"	"protein expression and enzymatic activity of naturally occurring RDH5 mutants in COS-1 cells"	""	""	""	""	"0"	""	""	""	"?"
"00413918"	""	""	""	"1"	""	"00000"	"{PMID:Liden 2001:11675386}"	"protein expression and enzymatic activity of naturally occurring RDH5 mutants in COS-1 cells"	""	""	""	""	"0"	""	""	""	"?"
"00413919"	""	""	""	"1"	""	"00000"	"{PMID:Liden 2001:11675386}"	"protein expression and enzymatic activity of naturally occurring RDH5 mutants in COS-1 cells"	""	""	""	""	"0"	""	""	""	"?"
"00413920"	""	""	""	"1"	""	"00000"	"{PMID:Liden 2001:11675386}"	"protein expression and enzymatic activity of naturally occurring RDH5 mutants in COS-1 cells"	""	""	""	""	"0"	""	""	""	"?"
"00413921"	""	""	""	"1"	""	"00000"	"{PMID:Liden 2001:11675386}"	"protein expression and enzymatic activity of naturally occurring RDH5 mutants in COS-1 cells"	""	""	""	""	"0"	""	""	""	"?"
"00413922"	""	""	""	"1"	""	"00000"	"{PMID:Liden 2001:11675386}"	"protein expression and enzymatic activity of naturally occurring RDH5 mutants in COS-1 cells"	""	""	""	""	"0"	""	""	""	"?"
"00413932"	""	""	""	"1"	""	"00000"	"{PMID:Sultan 2018:29892959}"	""	"F"	"yes"	"Pakistan"	""	"0"	""	""	"Pakistani"	"IV:1"
"00413933"	""	""	""	"1"	""	"00000"	"{PMID:Sultan 2018:29892959}"	""	"M"	"yes"	"Pakistan"	""	"0"	""	""	"Pakistani"	"IV:2"
"00413934"	""	""	""	"1"	""	"00000"	"{PMID:Sekiya 2003:12860821}"	""	"F"	""	"Japan"	""	"0"	""	""	"Japanese"	"?"
"00413962"	""	""	""	"1"	""	"00000"	"{PMID:Ajmal 2012:22736946}"	"family A"	"M"	"yes"	"Pakistan"	""	"0"	""	""	"Pakistani"	"IV-1"
"00413963"	""	""	""	"1"	""	"00000"	"{PMID:Ajmal 2012:22736946}"	"family A"	"M"	"yes"	"Pakistan"	""	"0"	""	""	"Pakistani"	"IV-2"
"00413964"	""	""	""	"1"	""	"00000"	"{PMID:Ajmal 2012:22736946}"	"family B"	"F"	"yes"	"Pakistan"	""	"0"	""	""	"Pakistani"	"IV-5"
"00413965"	""	""	""	"1"	""	"00000"	"{PMID:Ajmal 2012:22736946}"	"family B"	"F"	"yes"	"Pakistan"	""	"0"	""	""	"Pakistani"	"IV-7"
"00413966"	""	""	""	"1"	""	"00000"	"{PMID:Ajmal 2012:22736946}"	"family B"	"M"	"yes"	"Pakistan"	""	"0"	""	""	"Pakistani"	"VI-2"
"00413967"	""	""	""	"1"	""	"00000"	"{PMID:Ajmal 2012:22736946}"	"family B"	"F"	"yes"	"Pakistan"	""	"0"	""	""	"Pakistani"	"VI-3"
"00413968"	""	""	""	"1"	""	"00000"	"{PMID:Ajmal 2012:22736946}"	"family B"	"F"	"yes"	"Pakistan"	""	"0"	""	""	"Pakistani"	"VI-4"
"00413971"	""	""	""	"1"	""	"00000"	"{PMID:Makiyama 2014:24246574}"	""	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	"1"
"00413972"	""	""	""	"1"	""	"00000"	"{PMID:Makiyama 2014:24246574}"	""	"F"	""	"Japan"	""	"0"	""	""	"Japanese"	"2"
"00413973"	""	""	""	"1"	""	"00000"	"{PMID:Makiyama 2014:24246574}"	""	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	"3"
"00413974"	""	""	""	"1"	""	"00000"	"{PMID:Makiyama 2014:24246574}"	"brother of patient 5"	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	"4"
"00413975"	""	""	""	"1"	""	"00000"	"{PMID:Makiyama 2014:24246574}"	"brother of patient 4"	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	"5"
"00413978"	""	""	""	"1"	""	"00000"	"{PMID:Liu 2015:25170858}"	""	"F"	""	"China"	""	"0"	""	""	"Chinese"	"1"
"00413979"	""	""	""	"1"	""	"00000"	"{PMID:Liu 2015:25170858}"	""	"M"	""	"China"	""	"0"	""	""	"Chinese"	"1"
"00413980"	""	""	""	"1"	""	"00000"	"{PMID:Liu 2015:25170858}"	""	"M"	""	"China"	""	"0"	""	""	"Chinese"	"1"
"00413981"	""	""	""	"1"	""	"00000"	"{PMID:Liu 2015:25170858}"	""	"M"	""	"China"	""	"0"	""	""	"Chinese"	"1"
"00413982"	""	""	""	"1"	""	"00000"	"{PMID:Skorczyk-Werner 2015:25820994}"	""	"F"	""	"Poland"	""	"0"	""	""	"Polish"	"1"
"00414016"	""	""	""	"1"	""	"00000"	"{PMID:Yang 2017:28393863}"	""	"F"	""	"China"	""	"0"	""	""	"Chinese"	"II:1 Family 1"
"00414017"	""	""	""	"1"	""	"00000"	"{PMID:Yang 2017:28393863}"	""	"M"	""	"China"	""	"0"	""	""	"Chinese"	"II:2 Family 2"
"00414018"	""	""	""	"1"	""	"00000"	"{PMID:Yang 2017:28393863}"	""	"F"	""	"China"	""	"0"	""	""	"Chinese"	"II:6 Family 3"
"00423327"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2020:31933420}"	""	"M"	""	""	""	"0"	""	""	""	"F145-403"
"00423328"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2020:31933420}"	""	"F"	""	""	""	"0"	""	""	""	"F145-502"
"00423329"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2020:31933420}"	""	"M"	""	""	""	"0"	""	""	""	"F145-504"
"00423330"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2020:31933420}"	""	"F"	""	""	""	"0"	""	""	""	"F147-501"
"00423331"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2020:31933420}"	""	"M"	""	""	""	"0"	""	""	""	"F147-503"
"00423332"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2020:31933420}"	""	"F"	""	""	""	"0"	""	""	""	"F147-504"
"00423333"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2020:31933420}"	""	"F"	""	""	""	"0"	""	""	""	"F147-506"
"00423334"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2020:31933420}"	"heterozygous mother of 502, unaffected but with some symptoms"	"F"	""	""	""	"0"	""	""	""	"F147-402"
"00424015"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2020:32232344}"	""	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	"fam1patII-2"
"00424016"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2020:32232344}"	""	"F"	""	"Japan"	""	"0"	""	""	"Japanese"	"fam2patII-1"
"00424017"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2020:32232344}"	""	"F"	""	"Japan"	""	"0"	""	""	"Japanese"	"fam3patII-3"
"00424018"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2020:32232344}"	""	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	"fam3patII-4"
"00424019"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2020:32232344}"	""	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	"fam4patII-3"
"00424020"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2020:32232344}"	""	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	"fam5patII-3"
"00424021"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2020:32232344}"	""	"M"	"yes"	"Japan"	""	"0"	""	""	"Japanese"	"fam6patII-1"
"00424022"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2020:32232344}"	""	"M"	"yes"	"Japan"	""	"0"	""	""	"Japanese"	"fam6patII-2"
"00424023"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2020:32232344}"	""	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	"fam7patII-6"
"00424024"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2020:32232344}"	""	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	"fam8patII-3"
"00424025"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2020:32232344}"	""	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	"fam9patII-2"
"00424026"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2020:32232344}"	""	"M"	"yes"	"Japan"	""	"0"	""	""	"Japanese"	"fam10patII-3"
"00424027"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2020:32232344}"	""	"F"	""	"Japan"	""	"0"	""	""	"Japanese"	"fam11patII-3"
"00424028"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2020:32232344}"	""	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	"fam12patII-1"
"00424029"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2020:32232344}"	""	"F"	""	"Japan"	""	"0"	""	""	"Japanese"	"fam13patI-2"
"00424030"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2020:32232344}"	""	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	"fam13patII-1"
"00424031"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2020:32232344}"	""	"F"	""	"Japan"	""	"0"	""	""	"Japanese"	"fam14patII-1"
"00424032"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2020:32232344}"	""	"F"	""	"Japan"	""	"0"	""	""	"Japanese"	"fam15patII-1"
"00424033"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2020:32232344}"	""	"F"	""	"Japan"	""	"0"	""	""	"Japanese"	"fam16patII-1"
"00424034"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2020:32232344}"	""	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	"fam17patII-1"
"00424035"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2020:32232344}"	""	"F"	""	"Japan"	""	"0"	""	""	"Japanese"	"fam18patII-1"
"00424036"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2020:32232344}"	""	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	"fam19patII-1"
"00424037"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2020:32232344}"	""	"M"	"yes"	"Japan"	""	"0"	""	""	"Japanese"	"fam20patII-3"
"00424038"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2020:32232344}"	""	"F"	""	"Japan"	""	"0"	""	""	"Japanese"	"fam21patII-1"
"00424039"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2020:32232344}"	""	"F"	""	"Japan"	""	"0"	""	""	"Japanese"	"fam22patII-1"
"00435100"	""	""	""	"1"	""	"04364"	""	""	"M"	"yes"	"India"	""	"0"	""	""	"Asian"	"Fam_46"
"00450982"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"F"	""	""	""	"0"	""	""	""	"074640"
"00451215"	""	""	""	"1"	""	"00006"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	""	""	"0"	""	""	""	"072107"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 238
"{{individualid}}"	"{{diseaseid}}"
"00001815"	"00112"
"00087953"	"01339"
"00087954"	"01339"
"00087955"	"01339"
"00087956"	"01339"
"00087957"	"01339"
"00087957"	"04213"
"00087958"	"01339"
"00087958"	"04213"
"00087959"	"01339"
"00087960"	"01339"
"00087960"	"04213"
"00087961"	"01339"
"00087962"	"01339"
"00087963"	"01339"
"00087964"	"01339"
"00087965"	"01339"
"00087966"	"01339"
"00087967"	"01339"
"00087968"	"01339"
"00087969"	"01339"
"00087969"	"04249"
"00087970"	"01339"
"00087970"	"04249"
"00087971"	"04214"
"00087972"	"01339"
"00087973"	"01339"
"00087974"	"01339"
"00087975"	"01339"
"00087976"	"01339"
"00087977"	"01339"
"00087978"	"01339"
"00087978"	"04213"
"00087979"	"01339"
"00087979"	"04213"
"00087980"	"01339"
"00087981"	"01339"
"00087982"	"01339"
"00087983"	"01339"
"00087984"	"01339"
"00087985"	"01339"
"00087985"	"01788"
"00087986"	"01339"
"00087987"	"01339"
"00087988"	"01339"
"00087989"	"01339"
"00087990"	"01339"
"00087991"	"01339"
"00087992"	"01339"
"00087993"	"01339"
"00087993"	"04213"
"00087994"	"01339"
"00087994"	"04249"
"00087995"	"01339"
"00087996"	"01339"
"00087997"	"01339"
"00087998"	"01339"
"00087999"	"01339"
"00088000"	"01339"
"00088001"	"01339"
"00088002"	"01339"
"00088003"	"01339"
"00088004"	"01339"
"00088004"	"04249"
"00088005"	"01339"
"00088005"	"04249"
"00088006"	"01339"
"00088007"	"01339"
"00088008"	"01339"
"00088009"	"01339"
"00088010"	"01339"
"00088010"	"04249"
"00088011"	"01339"
"00088011"	"04249"
"00088012"	"01339"
"00088013"	"01339"
"00088014"	"01339"
"00088015"	"01339"
"00088016"	"01339"
"00088017"	"01339"
"00088018"	"01339"
"00088019"	"01339"
"00088020"	"01339"
"00088021"	"01339"
"00088022"	"01339"
"00088023"	"01339"
"00088024"	"01339"
"00088025"	"01339"
"00088026"	"01339"
"00088027"	"01339"
"00088028"	"01339"
"00088029"	"01339"
"00088030"	"01339"
"00088031"	"01339"
"00088032"	"01339"
"00088033"	"01339"
"00088034"	"01339"
"00088035"	"01339"
"00088036"	"01339"
"00088037"	"01339"
"00088038"	"01339"
"00088039"	"01339"
"00088040"	"01339"
"00088041"	"01339"
"00088042"	"01339"
"00088043"	"01339"
"00088044"	"01339"
"00088045"	"01339"
"00088046"	"01339"
"00088047"	"01339"
"00088048"	"01339"
"00088049"	"01339"
"00088050"	"01339"
"00088051"	"01339"
"00088052"	"01339"
"00088053"	"01339"
"00095931"	"00381"
"00100083"	"00381"
"00100105"	"00381"
"00155537"	"01339"
"00155538"	"01339"
"00155539"	"01339"
"00155540"	"01339"
"00155541"	"01339"
"00290760"	"00198"
"00309343"	"04214"
"00309344"	"04214"
"00309345"	"04214"
"00309346"	"04214"
"00309347"	"04214"
"00309348"	"04214"
"00309349"	"04214"
"00309351"	"04214"
"00309352"	"04214"
"00309353"	"04214"
"00309354"	"04214"
"00309355"	"04214"
"00309356"	"04214"
"00309357"	"04214"
"00325412"	"04214"
"00325429"	"04214"
"00331981"	"04214"
"00334886"	"04214"
"00335443"	"04214"
"00359103"	"04214"
"00373891"	"04214"
"00377503"	"04214"
"00379518"	"04214"
"00381022"	"04214"
"00381607"	"04214"
"00381722"	"04214"
"00382591"	"04214"
"00382783"	"04214"
"00384045"	"04214"
"00384060"	"04214"
"00385980"	"04214"
"00386193"	"04214"
"00386218"	"04214"
"00386224"	"04214"
"00386234"	"04214"
"00387624"	"04214"
"00389092"	"04214"
"00389353"	"04214"
"00390032"	"04214"
"00391205"	"04214"
"00391206"	"04214"
"00393788"	"04214"
"00413906"	"04214"
"00413912"	"04214"
"00413913"	"04214"
"00413914"	"04214"
"00413915"	"04214"
"00413916"	"04214"
"00413917"	"04214"
"00413918"	"04214"
"00413919"	"04214"
"00413920"	"04214"
"00413921"	"04214"
"00413922"	"04214"
"00413932"	"04214"
"00413933"	"04214"
"00413934"	"04214"
"00413962"	"04214"
"00413963"	"04214"
"00413964"	"04214"
"00413965"	"04214"
"00413966"	"04214"
"00413967"	"04214"
"00413968"	"04214"
"00413971"	"04214"
"00413972"	"04214"
"00413973"	"04214"
"00413974"	"04214"
"00413975"	"04214"
"00413978"	"04214"
"00413979"	"04214"
"00413980"	"04214"
"00413981"	"04214"
"00413982"	"04214"
"00414016"	"04214"
"00414017"	"04214"
"00414018"	"04214"
"00423327"	"04214"
"00423328"	"04214"
"00423329"	"04214"
"00423330"	"04214"
"00423331"	"04214"
"00423332"	"04214"
"00423333"	"04214"
"00423334"	"04214"
"00424015"	"04214"
"00424016"	"04214"
"00424017"	"04214"
"00424018"	"04214"
"00424019"	"04214"
"00424020"	"04214"
"00424021"	"04214"
"00424022"	"04214"
"00424023"	"04214"
"00424024"	"04214"
"00424025"	"04214"
"00424026"	"04214"
"00424027"	"04214"
"00424028"	"04214"
"00424029"	"04214"
"00424030"	"04214"
"00424031"	"04214"
"00424032"	"04214"
"00424033"	"04214"
"00424034"	"04214"
"00424035"	"04214"
"00424036"	"04214"
"00424037"	"04214"
"00424038"	"04214"
"00424039"	"04214"
"00435100"	"01339"
"00450982"	"04249"
"00451215"	"04249"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00112, 00198, 00381, 01339, 01788, 04213, 04214, 04249
## Count = 221
"{{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}}"
"0000066779"	"01339"	"00087957"	"00234"	"Familial, autosomal recessive"	""	"Fundus albipunctatus; cone dystrophy; white dots"	"22y"	""	""	""	""	""	""	""	""	""	""
"0000066780"	"01339"	"00087958"	"00234"	"Familial, autosomal recessive"	""	"Fundus albipunctatus; cone dystrophy; white dots"	"19y"	""	""	""	""	""	""	""	""	""	""
"0000066781"	"01339"	"00087960"	"00234"	"Familial, autosomal recessive"	""	"Fundus albipunctatus; cone dystrophy; numerous yellow-white flecks, bull\'s eye"	"47y"	""	""	""	""	""	""	""	""	""	""
"0000066782"	"01339"	"00087969"	"00234"	"Familial, autosomal recessive"	""	"Fundus albipunctatus; macular dystrophy; white dots"	"56y"	""	""	""	""	""	""	""	""	""	""
"0000066783"	"01339"	"00087970"	"00234"	"Familial, autosomal recessive"	""	"Fundus albipunctatus; macular dystrophy; white dots"	"51y"	""	""	""	""	""	""	""	""	""	""
"0000066784"	"01339"	"00087978"	"00234"	"Familial, autosomal recessive"	""	"Fundus albipunctatus; cone dystrophy; white dots"	"23y"	""	""	""	""	""	""	""	""	""	""
"0000066785"	"01339"	"00087979"	"00234"	"Familial, autosomal recessive"	""	"Fundus albipunctatus; cone dystrophy; white dots"	"23y"	""	""	""	""	""	""	""	""	""	""
"0000066786"	"01339"	"00087985"	"00234"	"Familial, autosomal recessive"	""	"Fundus albipunctatus; fleck retina; various yellow white flecks on retina"	"3y"	""	""	""	""	""	""	""	""	""	""
"0000066787"	"01339"	"00087993"	"00234"	"Familial, autosomal recessive"	""	"Fundus albipunctatus; cone dystrophy; white dots, bull\'s eye"	"74y"	""	""	""	""	""	""	""	""	""	""
"0000066788"	"01339"	"00087994"	"00234"	"Familial, autosomal recessive"	""	"Fundus albipunctatus; macular dystrophy; white dots"	"70y"	""	""	""	""	""	""	""	""	""	""
"0000066789"	"01339"	"00088004"	"00234"	"Familial, autosomal recessive"	""	"Fundus albipunctatus; macular dystrophy; light yellow discrete lesions"	"28y"	""	""	""	""	""	""	""	""	""	""
"0000066790"	"01339"	"00088005"	"00234"	"Familial, autosomal recessive"	""	"Fundus albipunctatus; macular dystrophy; light yellow discrete lesions"	"?"	""	""	""	""	""	""	""	""	""	""
"0000066791"	"01339"	"00088010"	"00234"	"Familial, autosomal recessive"	""	"Fundus albipunctatus; macular dystrophy; yellow white dots, foveal atrophy"	"9y"	""	""	""	""	""	""	""	""	""	""
"0000066792"	"01339"	"00088011"	"00234"	"Familial, autosomal recessive"	""	"Fundus albipunctatus; macular dystrophy; white dots"	"9y"	""	""	""	""	""	""	""	""	""	""
"0000067474"	"01339"	"00087953"	"00234"	"Familial, autosomal recessive"	""	"Deep white dots"	"19y"	""	""	""	""	""	""	""	""	""	""
"0000067475"	"01339"	"00087954"	"00234"	"Familial, autosomal recessive"	""	"White dots, macular atrophy"	"8y"	""	""	""	""	""	""	""	""	""	""
"0000067476"	"01339"	"00087955"	"00234"	"Familial, autosomal recessive"	""	"White dots"	"38y"	""	""	""	""	""	""	""	""	""	""
"0000067477"	"01339"	"00087956"	"00234"	"Familial, autosomal recessive"	""	"Deep white dots, rpe degeneration"	"37y"	""	""	""	""	""	""	""	""	""	""
"0000067478"	"01339"	"00087959"	"00234"	"Familial, autosomal recessive"	""	"Scattered white dots, macular degeneration"	"43y"	""	""	""	""	""	""	""	""	""	""
"0000067479"	"01339"	"00087961"	"00234"	"Familial, autosomal recessive"	""	"White dots"	"20y"	""	""	""	""	""	""	""	""	""	""
"0000067480"	"01339"	"00087962"	"00234"	"Familial, autosomal recessive"	""	"White dots"	"21y"	""	""	""	""	""	""	""	""	""	""
"0000067481"	"01339"	"00087963"	"00234"	"Familial, autosomal recessive"	""	"White dots"	"54y"	""	""	""	""	""	""	""	""	""	""
"0000067482"	"01339"	"00087964"	"00234"	"Familial, autosomal recessive"	""	"White dots"	"8y"	""	""	""	""	""	""	""	""	""	""
"0000067483"	"01339"	"00087965"	"00234"	"Familial, autosomal recessive"	""	"White dots"	"38y"	""	""	""	""	""	""	""	""	""	""
"0000067484"	"01339"	"00087966"	"00234"	"Familial, autosomal recessive"	""	"White dots"	"11y"	""	""	""	""	""	""	""	""	""	""
"0000067485"	"01339"	"00087967"	"00234"	"Familial, autosomal recessive"	""	"White dots"	"15y"	""	""	""	""	""	""	""	""	""	""
"0000067486"	"01339"	"00087968"	"00234"	"Familial, autosomal recessive"	""	"Deep white dots"	"43y"	""	""	""	""	""	""	""	""	""	""
"0000067487"	"04214"	"00087971"	"00234"	"Familial, autosomal recessive"	""	"Sectorial retinitis pigmentosa"	"?"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000067488"	"01339"	"00087972"	"00234"	"Familial, autosomal recessive"	""	"White dots, bull\'s eye"	"65y"	""	""	""	""	""	""	""	""	""	""
"0000067489"	"01339"	"00087973"	"00234"	"Familial, autosomal recessive"	""	"Deep white dots, rpe degeneration"	"41y"	""	""	""	""	""	""	""	""	""	""
"0000067490"	"01339"	"00087974"	"00234"	"Familial, autosomal recessive"	""	"No white dots"	"55y"	""	""	""	""	""	""	""	""	""	""
"0000067491"	"01339"	"00087975"	"00234"	"Familial, autosomal recessive"	""	"White dots"	"19y"	""	""	""	""	""	""	""	""	""	""
"0000067492"	"01339"	"00087976"	"00234"	"Familial, autosomal recessive"	""	"White dots"	"6y"	""	""	""	""	""	""	""	""	""	""
"0000067493"	"01339"	"00087977"	"00234"	"Familial, autosomal recessive"	""	"White dots"	"53y"	""	""	""	""	""	""	""	""	""	""
"0000067494"	"01339"	"00087980"	"00234"	"Familial, autosomal recessive"	""	"Deep white dots, rpe degeneration"	"18y"	""	""	""	""	""	""	""	""	""	""
"0000067495"	"01339"	"00087981"	"00234"	"Familial, autosomal recessive"	""	"Deep white dots, rpe degeneration"	"36y"	""	""	""	""	""	""	""	""	""	""
"0000067496"	"01339"	"00087982"	"00234"	"Familial, autosomal recessive"	""	"White dots"	"11y"	""	""	""	""	""	""	""	""	""	""
"0000067497"	"01339"	"00087983"	"00234"	"Unknown"	""	"Fading white dots, macular atrophy"	"76y"	""	""	""	""	""	""	""	""	""	""
"0000067498"	"01339"	"00087984"	"00234"	"Familial, autosomal recessive"	""	"White dots"	"6y"	""	""	""	""	""	""	""	""	""	""
"0000067499"	"01339"	"00087986"	"00234"	"Familial, autosomal recessive"	""	"White dots"	"32y"	""	""	""	""	""	""	""	""	""	""
"0000067500"	"01339"	"00087987"	"00234"	"Familial, autosomal recessive"	""	"Numerous yellow-white punctate deposits"	"43y"	""	""	""	""	""	""	""	""	""	""
"0000067501"	"01339"	"00087988"	"00234"	"Familial, autosomal recessive"	""	"Numerous pale-yellow spots"	"49y"	""	""	""	""	""	""	""	""	""	""
"0000067502"	"01339"	"00087989"	"00234"	"Familial, autosomal recessive"	""	"Numerous pale-yellow spots"	"?"	""	""	""	""	""	""	""	""	""	""
"0000067503"	"01339"	"00087990"	"00234"	"Familial, autosomal recessive"	""	"Typical yellow-white dots"	"26y"	""	""	""	""	""	""	""	""	""	""
"0000067504"	"01339"	"00087991"	"00234"	"Familial, autosomal recessive"	""	"Typical yellow-white dots"	"?"	""	""	""	""	""	""	""	""	""	""
"0000067505"	"01339"	"00087992"	"00234"	"Familial, autosomal recessive"	""	"Multiple deep whitish flecks"	"7y"	""	""	""	""	""	""	""	""	""	""
"0000067506"	"01339"	"00087995"	"00234"	"Familial, autosomal recessive"	""	"White dots, macular degeneration"	"45y"	""	""	""	""	""	""	""	""	""	""
"0000067507"	"01339"	"00087996"	"00234"	"Familial, autosomal recessive"	""	"White dots, macular degeneration"	"?"	""	""	""	""	""	""	""	""	""	""
"0000067508"	"01339"	"00087997"	"00234"	"Familial, autosomal recessive"	""	"White dots, macular degeneration"	"17y"	""	""	""	""	""	""	""	""	""	""
"0000067509"	"01339"	"00087998"	"00234"	"Familial, autosomal recessive"	""	"White dots, macular degeneration"	"10y"	""	""	""	""	""	""	""	""	""	""
"0000067510"	"01339"	"00087999"	"00234"	"Familial, autosomal recessive"	""	"White dots, macular degeneration"	"?"	""	""	""	""	""	""	""	""	""	""
"0000067511"	"01339"	"00088000"	"00234"	"Familial, autosomal recessive"	""	"Light yellow spots"	"?"	""	""	""	""	""	""	""	""	""	""
"0000067512"	"01339"	"00088001"	"00234"	"Familial, autosomal recessive"	""	"Light yellow spots"	"?"	""	""	""	""	""	""	""	""	""	""
"0000067513"	"01339"	"00088002"	"00234"	"Familial, autosomal recessive"	""	"Light yellow spots"	"45y"	""	""	""	""	""	""	""	""	""	""
"0000067514"	"01339"	"00088003"	"00234"	"Familial, autosomal recessive"	""	"Deep white dots and flecks, rpe degeneration"	"26y"	""	""	""	""	""	""	""	""	""	""
"0000067515"	"01339"	"00088006"	"00234"	"Familial, autosomal recessive"	""	"White dots"	"18y"	""	""	""	""	""	""	""	""	""	""
"0000067516"	"01339"	"00088007"	"00234"	"Familial, autosomal recessive"	""	"White dots"	"?"	""	""	""	""	""	""	""	""	""	""
"0000067517"	"01339"	"00088008"	"00234"	"Familial, autosomal recessive"	""	"White dots"	"18y"	""	""	""	""	""	""	""	""	""	""
"0000067518"	"01339"	"00088009"	"00234"	"Familial, autosomal recessive"	""	"White dots"	"11y"	""	""	""	""	""	""	""	""	""	""
"0000067519"	"01339"	"00088012"	"00234"	"Familial, autosomal recessive"	""	"White dots"	"35y"	""	""	""	""	""	""	""	""	""	""
"0000067520"	"01339"	"00088013"	"00234"	"Familial, autosomal recessive"	""	"White dots, macular degeneration"	"35y"	""	""	""	""	""	""	""	""	""	""
"0000067521"	"01339"	"00088014"	"00234"	"Familial, autosomal recessive"	""	"White dots, macular degeneration"	""	""	""	""	""	""	""	""	""	""	""
"0000067522"	"01339"	"00088015"	"00234"	"Familial, autosomal recessive"	""	"Light yellow spots"	"55y"	""	""	""	""	""	""	""	""	""	""
"0000067523"	"01339"	"00088016"	"00234"	"Familial, autosomal recessive"	""	"White punctation and bull\'s eye"	"63y"	""	""	""	""	""	""	""	""	""	""
"0000067524"	"01339"	"00088017"	"00234"	"Familial, autosomal recessive"	""	"Distinct macular dystrophy and inconspicuous white dots"	"59y"	""	""	""	""	""	""	""	""	""	""
"0000067525"	"01339"	"00088018"	"00234"	"Familial, autosomal recessive"	""	"White punctation and bull\'s eye"	"58y"	""	""	""	""	""	""	""	""	""	""
"0000067526"	"01339"	"00088019"	"00234"	"Familial, autosomal recessive"	""	"Macular dystrophy and white dots"	"48y"	""	""	""	""	""	""	""	""	""	""
"0000067527"	"01339"	"00088020"	"00234"	"Familial, autosomal recessive"	""	"White dots, night blindness, photophobia"	"36y"	""	""	""	""	""	""	""	""	""	""
"0000067528"	"01339"	"00088021"	"00234"	"Familial, autosomal recessive"	""	"White dots, night blindness"	"57y"	""	""	""	""	""	""	""	""	""	""
"0000067529"	"01339"	"00088022"	"00234"	"Familial, autosomal recessive"	""	"White dots, night blindness"	"55y"	""	""	""	""	""	""	""	""	""	""
"0000067530"	"01339"	"00088023"	"00234"	"Familial, autosomal recessive"	""	"White dots, night blindness"	"48y"	""	""	""	""	""	""	""	""	""	""
"0000067531"	"01339"	"00088024"	"00234"	"Familial, autosomal recessive"	""	"White dots, night blindness"	"45y"	""	""	""	""	""	""	""	""	""	""
"0000067532"	"01339"	"00088025"	"00234"	"Familial, autosomal recessive"	""	"White dots, night blindness"	"40y"	""	""	""	""	""	""	""	""	""	""
"0000067533"	"01339"	"00088026"	"00234"	"Familial, autosomal recessive"	""	"White dots"	"18y"	""	""	""	""	""	""	""	""	""	""
"0000067534"	"01339"	"00088027"	"00234"	"Familial, autosomal recessive"	""	"White dots"	"15y"	""	""	""	""	""	""	""	""	""	""
"0000067535"	"01339"	"00088028"	"00234"	"Familial, autosomal recessive"	""	"White dots"	"66y"	""	""	""	""	""	""	""	""	""	""
"0000067536"	"01339"	"00088029"	"00234"	"Familial, autosomal recessive"	""	"White dots"	"18y"	""	""	""	""	""	""	""	""	""	""
"0000067537"	"01339"	"00088030"	"00234"	"Familial, autosomal recessive"	""	"White dots"	"15y"	""	""	""	""	""	""	""	""	""	""
"0000067538"	"01339"	"00088031"	"00234"	"Familial, autosomal recessive"	""	"White dots"	"15y"	""	""	""	""	""	""	""	""	""	""
"0000067539"	"01339"	"00088032"	"00234"	"Familial, autosomal recessive"	""	"White dots"	"15y"	""	""	""	""	""	""	""	""	""	""
"0000067540"	"01339"	"00088033"	"00234"	"Familial, autosomal recessive"	""	"White dots"	"12y"	""	""	""	""	""	""	""	""	""	""
"0000067541"	"01339"	"00088034"	"00234"	"Familial, autosomal recessive"	""	"White dots"	"53y"	""	""	""	""	""	""	""	""	""	""
"0000067542"	"01339"	"00088035"	"00234"	"Familial, autosomal recessive"	""	"White dots"	"41y"	""	""	""	""	""	""	""	""	""	""
"0000067543"	"01339"	"00088036"	"00234"	"Familial, autosomal recessive"	""	"White dots"	"35y"	""	""	""	""	""	""	""	""	""	""
"0000067544"	"01339"	"00088037"	"00234"	"Familial, autosomal recessive"	""	"White dots"	"40y"	""	""	""	""	""	""	""	""	""	""
"0000067545"	"01339"	"00088038"	"00234"	"Unknown"	""	"White dots"	"50y"	""	""	""	""	""	""	""	""	""	""
"0000067546"	"01339"	"00088039"	"00234"	"Unknown"	""	"White dots"	"32y"	""	""	""	""	""	""	""	""	""	""
"0000067547"	"01339"	"00088040"	"00234"	"Unknown"	""	"White dots"	"50y"	""	""	""	""	""	""	""	""	""	""
"0000067548"	"01339"	"00088041"	"00234"	"Unknown"	""	"White dots"	"39y"	""	""	""	""	""	""	""	""	""	""
"0000067549"	"01339"	"00088042"	"00234"	"Unknown"	""	"White dots"	"55y"	""	""	""	""	""	""	""	""	""	""
"0000067550"	"01339"	"00088043"	"00234"	"Unknown"	""	"White dots"	"32y"	""	""	""	""	""	""	""	""	""	""
"0000067551"	"01339"	"00088044"	"00234"	"Unknown"	""	"White dots"	"19y"	""	""	""	""	""	""	""	""	""	""
"0000067552"	"01339"	"00088045"	"00234"	"Unknown"	""	"White dots"	"55y"	""	""	""	""	""	""	""	""	""	""
"0000067553"	"01339"	"00088046"	"00234"	"Unknown"	""	"White dots"	"29y"	""	""	""	""	""	""	""	""	""	""
"0000067554"	"01339"	"00088047"	"00234"	"Unknown"	""	"White dots"	"22y"	""	""	""	""	""	""	""	""	""	""
"0000067555"	"01339"	"00088048"	"00234"	"Unknown"	""	"White dots"	"23y"	""	""	""	""	""	""	""	""	""	""
"0000067556"	"01339"	"00088049"	"00234"	"Unknown"	""	"White dots"	"18y"	""	""	""	""	""	""	""	""	""	""
"0000067557"	"01339"	"00088050"	"00234"	"Unknown"	""	"White dots"	"10y"	""	""	""	""	""	""	""	""	""	""
"0000067558"	"01339"	"00088051"	"00234"	"Unknown"	""	"White dots"	"23y"	""	""	""	""	""	""	""	""	""	""
"0000067559"	"01339"	"00088052"	"00234"	"Unknown"	""	"White dots"	"20y"	""	""	""	""	""	""	""	""	""	""
"0000067560"	"01339"	"00088053"	"00234"	"Unknown"	""	"White dots"	"24y"	""	""	""	""	""	""	""	""	""	""
"0000074221"	"00381"	"00095931"	"01769"	"Familial, autosomal recessive"	""	"Fundus Albipunctatus, stationary"	""	""	""	""	""	""	""	""	""	""	""
"0000078323"	"00381"	"00100083"	"01769"	"Familial, autosomal recessive"	""	"Fundus Albipunctatus"	""	""	""	""	""	""	""	""	""	""	""
"0000078342"	"00381"	"00100105"	"01769"	"Familial, autosomal recessive"	""	"Fundus Albipunctatus, stationary"	""	""	""	""	""	""	""	""	""	""	""
"0000128037"	"01339"	"00155537"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"FA"	""
"0000128038"	"01339"	"00155538"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"FA"	""
"0000128039"	"01339"	"00155539"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"FA"	""
"0000128040"	"01339"	"00155540"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"FA"	""
"0000128041"	"01339"	"00155541"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"FA"	""
"0000234663"	"04214"	"00309343"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"fundus albipunctata"	""
"0000234664"	"04214"	"00309344"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000234665"	"04214"	"00309345"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"fundus albipunctata"	""
"0000234666"	"04214"	"00309346"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"RAA"	""
"0000234667"	"04214"	"00309347"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000234668"	"04214"	"00309348"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"fundus albipunctata"	""
"0000234669"	"04214"	"00309349"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"fundus albipunctata"	""
"0000234671"	"04214"	"00309351"	"00004"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"fundus albipunctatus"	""
"0000234672"	"04214"	"00309352"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"fundus albipunctata"	""
"0000234673"	"04214"	"00309353"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"fundus albipunctata"	""
"0000234674"	"04214"	"00309354"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"RAA"	""
"0000234675"	"04214"	"00309355"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"fundus albipunctata"	""
"0000234676"	"04214"	"00309356"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"RAA"	""
"0000234677"	"04214"	"00309357"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"fundus albipunctata"	""
"0000243899"	"04214"	"00325412"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000243916"	"04214"	"00325429"	"00006"	"Familial, autosomal recessive"	""	"retinitis pigmentosa, fundus albipunctatus, autosomal recessive"	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000250172"	"04214"	"00331981"	"00000"	"Familial, autosomal recessive"	"57y"	"night vision problems; scotopic ERG normalreduced; photopic ERG borderline"	""	""	"night vision problems"	""	""	""	""	""	""	"macular dystrophy or cone-rod dystrophy"	""
"0000252672"	"04214"	"00334886"	"00000"	"Familial, autosomal recessive"	""	"stationary"	""	""	""	""	""	""	""	""	""	"fundus albipunctatus"	""
"0000253389"	"04214"	"00335443"	"00006"	"Familial, autosomal recessive"	""	"fundus albipunctatus, congenital stationary night blindness, cone-rod dystrophy"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000254400"	"04214"	"00359103"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000269100"	"04214"	"00373891"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"fundus albipunctatus"	""
"0000272653"	"04214"	"00377503"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"fundus albipunctatus"	""
"0000273391"	"04214"	"00379518"	"00000"	"Unknown"	"47y"	"Normal optic disc, normal vasculature, abnormal macular and foveal reflexes, and perimacular ring of pigmentary changes. Numerous white dots along vascular curve in a radial-lined pattern."	"47y"	""	""	""	""	""	""	""	""	"Fundus albipunctatus (FAP)with maculopathy"	""
"0000274873"	"04214"	"00381022"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"fundus albipunctatus (FA)"	""
"0000275449"	"04214"	"00381607"	"00000"	"Familial, autosomal recessive"	""	""	"15y"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000275564"	"04214"	"00381722"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa Simplex"	""
"0000276440"	"04214"	"00382591"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276639"	"04214"	"00382783"	"00000"	"Familial"	"21y"	"night blindness in childhood (3y), round punctate white deposits in the midperipheral retina (9y), fewer such lesions in the posterior pole, and normal optic disc, fovea, and retinal vessels"	"3y"	""	""	""	""	""	""	""	""	"Retinitis Punctata Albescens"	""
"0000277830"	"04214"	"00384045"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis punctata albescens"	""
"0000277845"	"04214"	"00384060"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Fundus albipunctatus"	""
"0000279781"	"04214"	"00385980"	"00000"	"Familial, autosomal recessive"	""	"night blindness with onset in early childhood"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000279996"	"04214"	"00386193"	"00000"	"Familial, autosomal dominant"	"18y"	""	""	"16y"	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000280021"	"04214"	"00386218"	"00000"	"Familial, autosomal recessive"	"47y"	""	""	"30y"	""	""	""	""	""	""	"Stargardt Disease"	""	""
"0000280027"	"04214"	"00386224"	"00000"	"Familial, autosomal recessive"	"14y"	""	""	"5y"	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000280037"	"04214"	"00386234"	"00000"	"Familial, autosomal recessive"	"49y"	""	""	"7y"	""	""	""	""	""	""	"Fundus albipunctatus"	""	""
"0000281187"	"04214"	"00387624"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"Fundus albipunctatus and cone dystrophy"	"Adult retinal dystrophy"	""
"0000282633"	"04214"	"00389092"	"00000"	"Familial, autosomal recessive"	"17y"	"age at genetic diagnosis mentioned"	""	"14y"	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000282894"	"04214"	"00389353"	"00000"	"Familial, autosomal recessive"	"43y"	"age at genetic diagnosis mentioned"	""	"41y"	""	""	""	""	""	""	"unclassified / mixed"	""	""
"0000283572"	"04214"	"00390032"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa with early-onset primary angle closure glaucoma"	"retinitis pigmentosa with early-onset primary angle closure glaucoma"	""
"0000284647"	"04214"	"00391205"	"00000"	"Unknown"	"49y"	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000284648"	"04214"	"00391206"	"00000"	"Unknown"	"56y"	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000286994"	"04214"	"00393788"	"00000"	"Isolated (sporadic)"	"10y"	""	""	""	""	""	""	""	""	""	""	"Retinitis Punctata Albescens (RPA)"	""
"0000305863"	"04214"	"00413906"	"00000"	"Familial, autosomal recessive"	"57y"	"best corrected visual acuity: 20/20 for both patients, refraction spherical equivalent -0.50, right eye -1.75, left eye; minimal nuclear sclerotic lens changes; Goldmann kinetic perimetry (V4e, I4e) and standard electroretinogram: within normal limits; no coexisting systemic abnormalities or intake of retinotoxic medication; fundus appearance: typical for fundus albipunctatus - more clinical data in Marmor, 1977, 1990"	""	""	""	""	""	""	""	""	"fundus albipunctatus"	""	""
"0000305869"	"04214"	"00413912"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"fundus albipunctatus"	""	""
"0000305870"	"04214"	"00413913"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"fundus albipunctatus"	""	""
"0000305871"	"04214"	"00413914"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"fundus albipunctatus"	""	""
"0000305872"	"04214"	"00413915"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"fundus albipunctatus"	""	""
"0000305873"	"04214"	"00413916"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"fundus albipunctatus"	""	""
"0000305874"	"04214"	"00413917"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"fundus albipunctatus"	""	""
"0000305875"	"04214"	"00413918"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"fundus albipunctatus"	""	""
"0000305876"	"04214"	"00413919"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"fundus albipunctatus"	""	""
"0000305877"	"04214"	"00413920"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"fundus albipunctatus"	""	""
"0000305878"	"04214"	"00413921"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"fundus albipunctatus"	""	""
"0000305879"	"04214"	"00413922"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"fundus albipunctatus"	""	""
"0000305885"	"04214"	"00413932"	"00000"	"Familial, autosomal recessive"	"25y"	"best corrected visual acuity: light perception; progressive disease; fundus findings: pallor optic disc, attenuation of vessels, dispersed bony pigmentation"	"10y"	""	"tunnel vision"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000305886"	"04214"	"00413933"	"00000"	"Familial, autosomal recessive"	"15y"	"best corrected visual acuity: light perception; progressive disease; fundus findings: vascular attenuation, prominent bony spicules"	"8y"	""	"night blindness"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000305887"	"04214"	"00413934"	"00000"	"Familial, autosomal recessive"	"21y"	"best corrected visual acuity both eyes: 20/15; visual fields: full; fundus: numerous yellow-white dot-like lesions at the level of the retinal pigment epithelium bilaterally; periodic examinations for 15 years; only variation distribution and particularly density of the dot-like lesions ��� for example in the inferonasal area numbers have increased, in the nasal decreased; no abnormality in the macular area during the 15 years of obs"	""	"6y"	"night blindness"	""	""	""	""	""	"fundus albipunctatus"	""	""
"0000305889"	"04214"	"00413962"	"00000"	"Familial, autosomal recessive"	"35y"	"best corrected visual acuity right, left eye: 6/12, 6/12; fundus phenotype: white dots typical of fundus albipunctatus in the midperiphery of the retina; electroretinogram: responses of cone and rod photoreceptors diminished; daytime vision problems, macular degeneration; retinal pigment epithelium degeneration; retinoscopy: not determined"	""	""	""	""	""	""	""	""	"fundus albipunctatus"	""	""
"0000305890"	"04214"	"00413963"	"00000"	"Familial, autosomal recessive"	""	"fundus phenotype: white dots typical of fundus albipunctatus in the midperiphery of the retina"	""	""	""	""	""	""	""	""	"fundus albipunctatus"	""	""
"0000305891"	"04214"	"00413964"	"00000"	"Familial, autosomal recessive"	""	"fundus phenotype: white dots typical of fundus albipunctatus in the midperiphery of the retina; normal daytime vision"	""	""	""	""	""	""	""	""	"fundus albipunctatus"	""	""
"0000305892"	"04214"	"00413965"	"00000"	"Familial, autosomal recessive"	"45y"	"best corrected visual acuity right, left eye: 6/18, 6/12; fundus phenotype: white dots typical of fundus albipunctatus in the midperiphery of the retina; macular degeneration, normal daytime vision.; no retinal pigment epithelium degeneration; retinoscopy: hypermetropia"	""	""	""	""	""	""	""	""	"fundus albipunctatus"	""	""
"0000305893"	"04214"	"00413966"	"00000"	"Familial, autosomal recessive"	"17y"	"best corrected visual acuity right, left eye: 6/6, 6/6; fundus phenotype: white dots typical of fundus albipunctatus in the midperiphery of the retina; normal daytime vision; no retinal pigment epithelium degeneration; retinoscopy: low hypermetropia"	""	""	""	""	""	""	""	""	"fundus albipunctatus"	""	""
"0000305894"	"04214"	"00413967"	"00000"	"Familial, autosomal recessive"	"10y"	"best corrected visual acuity right, left eye: 6/6, 6/6; fundus phenotype: white dots typical of fundus albipunctatus in the midperiphery of the retina; normal daytime vision; no retinal pigment epithelium degeneration; retinoscopy: low hypermetropia"	""	""	""	""	""	""	""	""	"fundus albipunctatus"	""	""
"0000305895"	"04214"	"00413968"	"00000"	"Familial, autosomal recessive"	""	"fundus phenotype: white dots typical of fundus albipunctatus in the midperiphery of the retina; normal daytime vision"	""	""	""	""	""	""	""	""	"fundus albipunctatus"	""	""
"0000305898"	"04214"	"00413971"	"00000"	"Familial, autosomal recessive"	"32y"	"best corrected visual acuity right, left eye: 20/15, 20/15; axial length: 23.61, 23.6; 0.5 mm from the fovea: cone density (cells/mm2): 12 468, 13 849; ratio of hexagonal voronoi domains (%): 37.3, 39; average nearest neighbor distance / expected nearest neighbor distance: 0.65, 0.64; 1 mm from the fovea: cone density (cells/mm2): 13 472, 13 290; ratio of hexagonal voronoi domains (%): 34, 36.2; average nearest neighbor distance / expected nearest neighbor distance: 0.64, 0.63"	""	""	""	""	""	""	""	""	"fundus albipunctatus"	""	""
"0000305899"	"04214"	"00413972"	"00000"	"Isolated (sporadic)"	"20y"	"best corrected visual acuity right, left eye: 20/25, 20/15; axial length: 22.25, 22.23; 0.5 mm from the fovea: cone density (cells/mm2): 19 763, 19 071; ratio of hexagonal voronoi domains (%): 42.2, 40.3; average nearest neighbor distance / expected nearest neighbor distance: 0.68, 0.65; 1 mm from the fovea: cone density (cells/mm2): 15 640, 13 108; ratio of hexagonal voronoi domains (%): 37.3, 36.9; average nearest neighbor distance / expected nearest neighbor distance: 0.63, 0.61"	""	""	""	""	""	""	""	""	"fundus albipunctatus"	""	""
"0000305900"	"04214"	"00413973"	"00000"	"Isolated (sporadic)"	"64y"	"best corrected visual acuity right, left eye: 20/15, 20/15; axial length: 23.06, 22.8; 0.5 mm from the fovea: cone density (cells/mm2): 19 410, 21 695; ratio of hexagonal voronoi domains (%): 38.4, 37.6; average nearest neighbor distance / expected nearest neighbor distance: 0.67, 0.7; 1 mm from the fovea: cone density (cells/mm2): 13 149, 14 137; ratio of hexagonal voronoi domains (%): 42.2, 37; average nearest neighbor distance / expected nearest neighbor distance: 0.68, 0.66"	""	""	""	""	""	""	""	""	"fundus albipunctatus"	""	""
"0000305901"	"04214"	"00413974"	"00000"	"Familial, autosomal recessive"	"17y"	"best corrected visual acuity right, left eye: 20/15, 20/15; axial length: 22.53, 22.44; 0.5 mm from the fovea: cone density (cells/mm2): 23 725, 25 546; ratio of hexagonal voronoi domains (%): 40.6, 45.4; average nearest neighbor distance / expected nearest neighbor distance: 0.71, 0.71; 1 mm from the fovea: cone density (cells/mm2): 15 644, 15 822; ratio of hexagonal voronoi domains (%): 37.4, 43.3; average nearest neighbor distance / expected nearest neighbor distance: 0.71, 0.73"	""	""	""	""	""	""	""	""	"fundus albipunctatus"	""	""
"0000305902"	"04214"	"00413975"	"00000"	"Familial, autosomal recessive"	"15y"	"best corrected visual acuity right, left eye: 20/15, 20/15; axial length: 23.47, 23.19; 0.5 mm from the fovea: cone density (cells/mm2): 17 905, 19 404; ratio of hexagonal voronoi domains (%): 42.7, 39.6; average nearest neighbor distance / expected nearest neighbor distance: 0.69, 0.71; 1 mm from the fovea: cone density (cells/mm2): 12 652, 11853; ratio of hexagonal voronoi domains (%): 39.2, 41.7; average nearest neighbor distance / expected nearest neighbor distance: 0.68, 0.68"	""	""	""	""	""	""	""	""	"fundus albipunctatus"	""	""
"0000305905"	"04214"	"00413978"	"00000"	"Familial, autosomal recessive"	"29y"	"best corrected visual acuity right/left eye: 1.2/1.2; subretinal white or yellow spots on funduscopy sparing the fovea, some spots appeared in the vascular arcades and were very close to optic disks and the parafoveal area; optic disk and retinal vascular caliber: normal; pigment irregularity not present; color vision of all patients: normal; no sign of hypopigmentation or pigment epithelium"	""	""	"poor night vision"	""	""	""	""	""	"fundus albipunctatus"	""	""
"0000305906"	"04214"	"00413979"	"00000"	"Familial, autosomal recessive"	"38y"	"best corrected visual acuity right/left eye: 0.9/0.9; subretinal white or yellow spots on funduscopy sparing the fovea, some spots appeared in the vascular arcades and were very close to optic disks and the parafoveal area; optic disk and retinal vascular caliber: normal; pigment irregularity not present; color vision of all patients: normal; no sign of hypopigmentation or pigment epithelium"	""	""	"poor night vision"	""	""	""	""	""	"fundus albipunctatus"	""	""
"0000305907"	"04214"	"00413980"	"00000"	"Familial, autosomal recessive"	"6y"	"best corrected visual acuity right/left eye: 1.0/1.0; subretinal white or yellow spots on funduscopy sparing the fovea; optic disk and retinal vascular caliber: normal; pigment irregularity not present; color vision of all patients: normal; no sign of hypopigmentation or pigment epithelium"	""	""	"poor night vision"	""	""	""	""	""	"fundus albipunctatus"	""	""
"0000305908"	"04214"	"00413981"	"00000"	"Familial, autosomal recessive"	"6y"	"best corrected visual acuity right/left eye: 1.0/1.0; subretinal white or yellow spots on funduscopy sparing the fovea; optic disk and retinal vascular caliber: normal; pigment irregularity not present; color vision of all patients: normal; no sign of hypopigmentation or pigment epithelium"	""	""	"poor night vision"	""	""	""	""	""	"fundus albipunctatus"	""	""
"0000305909"	"04214"	"00413982"	"00000"	"Familial, autosomal recessive"	"16y"	"visual acuity and colour vision: normal; anterior segment and the pupillary reflexes: no abnormalities; fundus examination: numerous small white-yellowish retinal lesions mainly in the upper quadrants of the retina; visual field: peripheral constriction to approximately 10-20deg; full-field electroretinogram: significantly reduced scotopic responses after the standard period of 20-30 min dark adaptation; however, after a prolonged 120 min of dark adaptation, rod responses normalized; photopic responses in all examinations were normal; high-definition spectral optical coherence tomography: no abnormalities of the central macular thickness in either eye, but local modulations of the retinal pigment epithelium and inner/outer segment junctions corresponding with retinal flecks identified"	""	""	""	""	""	""	""	""	"fundus albipunctatus"	""	""
"0000305925"	"04214"	"00414016"	"00000"	"Familial, autosomal recessive"	"6y"	"best corrected visual acuity right/left eye: 0.8/1.0; fundus: white or white-yellow dots in the periphery of the retina; without macular involvement; optical coherence tomography: hyperreflective lesions scattering on the periphery of the retina; infrared reflectance/fundus autofluorescence: normal; fundus fluorescein angiography/indocyanine green angiography: normal angiography; visual field: reduction of sensitivity in the central visual field right mean defect: 3.7, left mean defect: 6.2"	""	""	""	""	""	""	""	""	"fundus albipunctatus"	""	""
"0000305926"	"04214"	"00414017"	"00000"	"Familial, autosomal recessive"	"21y"	"best corrected visual acuity right/left eye: 0.8/0.8; fundus: white or white-yellow dots in the periphery of the retina; without macular involvement; optical coherence tomography: hyperreflective lesions scattering on the periphery of the retina; infrared reflectance/fundus autofluorescence: normal; fundus fluorescein angiography/indocyanine green angiography: normal angiography; visual field: no data"	""	""	""	""	""	""	""	""	"fundus albipunctatus"	""	""
"0000305927"	"04214"	"00414018"	"00000"	"Familial, autosomal recessive"	"41y"	"best corrected visual acuity right/left eye: 1.0/0.8; fundus: white or white-yellow dots in the periphery of the retina and in the perimacular area; without macular involvement; optical coherence tomography: hyperreflective lesions scattering on the periphery and perimacular area of the retina; infrared reflectance/fundus autofluorescence: normal; fundus fluorescein angiography/indocyanine green angiography: abnormal in perimacular and periphery; visual field: reduction of sensitivity in the central visual field right mean defect:11.4, left mean defect:9.9"	""	""	""	""	""	""	""	""	"fundus albipunctatus"	""	""
"0000314534"	"04214"	"00423327"	"00000"	"Familial, autosomal recessive"	"40y"	"physical examination: auto-refractive test: normal; best corrected visual acuity right eye: counting fingers, left eye: 2/60; pinhole test: no improvement; Marcus gunn: no; orthophoric:; extra-ocular movement: not applicable; cornea: transparent; media: clear; intraocular pressure: normal; dry conjuctiva; color perception: abnormal; dark adaptation: abnormal; fundus examination: no macular flecks; no crowdy disc; fundus flecks; no macular flecks raised disc margins; no retinal flecks; lens changes; vitreous cells; atrophic maculopathy"	""	""	""	""	""	""	""	""	"retinitis punctata albescens"	""	""
"0000314535"	"04214"	"00423328"	"00000"	"Familial, autosomal recessive"	"18y"	"physical examination: auto-refractive test: hypermetropia; best corrected visual acuity both eyes: 6/7; pinhole test: not applicable; Marcus gunn: no; orthophoric:; extra-ocular movement: full; cornea: transparent; media: clear; intraocular pressure: normal; no dry conjuctiva; color perception: abnormal; dark adaptation: abnormal; fundus examination: no macular flecks; no crowdy disc; fundus flecks; no macular flecks raised disc margins; retinal flecks; no lens changes; no vitreous cells; no atrophic maculopathy"	""	""	""	""	""	""	""	""	"retinitis punctata albescens"	""	""
"0000314536"	"04214"	"00423329"	"00000"	"Familial, autosomal recessive"	"16y"	"physical examination: auto-refractive test: hypermetropia; best corrected visual acuity both eyes: 6/6; pinhole test: not applicable; Marcus gunn: no; orthophoric:; extra-ocular movement: full; cornea: transparent; media: clear; intraocular pressure: normal; no dry conjuctiva; color perception: abnormal; dark adaptation: abnormal; fundus examination: macular flecks; crowdy disc; fundus flecks; no macular flecks raised disc margins; no retinal flecks; no lens changes; no vitreous cells; no atrophic maculopathy"	""	""	""	""	""	""	""	""	"retinitis punctata albescens"	""	""
"0000314537"	"04214"	"00423330"	"00000"	"Familial, autosomal recessive"	"18y"	"physical examination: auto-refractive test: hypermetropia; best corrected visual acuity both eyes: 6/9; pinhole test: not applicable; Marcus gunn: no; orthophoric:; extra-ocular movement: full; cornea: transparent; media: clear; intraocular pressure: normal; no dry conjuctiva; color perception: abnormal; dark adaptation: abnormal; fundus examination: no macular flecks; no crowdy disc; fundus flecks; no macular flecks raised disc margins; no retinal flecks; no lens changes; no vitreous cells; no atrophic maculopathy"	""	""	""	""	""	""	""	""	"retinitis punctata albescens"	""	""
"0000314538"	"04214"	"00423331"	"00000"	"Familial, autosomal recessive"	"16y"	"physical examination: auto-refractive test: hypermetropia; best corrected visual acuity both eyes: 6/10; pinhole test: not applicable; Marcus gunn: no; orthophoric:; extra-ocular movement: full; cornea: transparent; media: clear; intraocular pressure: normal; no dry conjuctiva; color perception: abnormal; dark adaptation: abnormal; fundus examination: no macular flecks; no crowdy disc; fundus flecks; no macular flecks raised disc margins; no retinal flecks; no lens changes; no vitreous cells; no atrophic maculopathy"	""	""	""	""	""	""	""	""	"retinitis punctata albescens"	""	""
"0000314539"	"04214"	"00423332"	"00000"	"Familial, autosomal recessive"	"14y"	"physical examination: auto-refractive test: hypermetropia; best corrected visual acuity both eyes: 6/8; pinhole test: not applicable; Marcus gunn: no; orthophoric:; extra-ocular movement: full; cornea: transparent; media: clear; intraocular pressure: normal; no dry conjuctiva; color perception: abnormal; dark adaptation: abnormal; fundus examination: macular flecks; no crowdy disc; fundus flecks; macular flecks, raised disc margins; no retinal flecks; no lens changes; no vitreous cells; no atrophic maculopathy"	""	""	""	""	""	""	""	""	"retinitis punctata albescens"	""	""
"0000314540"	"04214"	"00423333"	"00000"	"Familial, autosomal recessive"	"12y"	"physical examination: auto-refractive test: hypermetropia; best corrected visual acuity both eyes: 6/11; pinhole test: not applicable; Marcus gunn: no; orthophoric:; extra-ocular movement: full; cornea: transparent; media: clear; intraocular pressure: normal; no dry conjuctiva; color perception: abnormal; dark adaptation: abnormal; fundus examination: macular flecks; no crowdy disc; fundus flecks; no macular flecks raised disc margins; no retinal flecks; no lens changes; no vitreous cells; no atrophic maculopathy"	""	""	""	""	""	""	""	""	"retinitis punctata albescens"	""	""
"0000314541"	"04214"	"00423334"	"00000"	"Familial, autosomal recessive"	"40y"	"physical examination: auto-refractive test: hypermetropia; best corrected visual acuity both eyes: 6/12; pinhole test: not applicable; Marcus gunn: no; orthophoric:; extra-ocular movement: full; cornea: transparent; media: clear; intraocular pressure: normal; no dry conjuctiva; color perception: normal; dark adaptation: normal; fundus examination: no macular flecks; no crowdy disc; fundus flecks: 2-3 flecks; no macular flecks raised disc margins; retinal flecks: 2-3 flecks; no lens changes; no vitreous cells; no atrophic maculopathy"	""	""	""	""	""	""	""	""	"retinitis punctata albescens"	""	""
"0000315222"	"04214"	"00424015"	"00000"	"Familial, autosomal recessive"	"49y"	"duration of follow-up (years): 42-61; average examined age of comprehensive ophthalmic examinations: 49; best corrected visual acuity right, left eye (first examination; last examination; overall): -0.08, -0.08;0.40, 0.05;-0.08, -0.18; refraction spherical equivalent right, left eye: +0D cyl. -0.75D, +0.50D cyl. -1.00D ; fundus: diabetic retinopathy in both eyes (after panretinal photocoagulation), fine white dots at partial midperipheral retina, macular degeneration in both eyes; fundus autofluorescence: not determined; optical coherence tomography: irregular retinal layers in right eye, diffuse disruption of external limiting membrane, ellipsoid zone, and interdigitation zone, and outer nuclear layer thinning with foveal sparing in both eyes; visual field (Goldmann perimetry): not determined; full field electroretinography: standard dark adaptation (dark adapted ): 30-min dark adapted  in both eyes, dark adapted 0.01: severely decreased b-wave, dark adapted 3.0: decreased a- and b-waves, light adapted 3.0: decreased a- and b-waves, 30-Hz flicker: decreased b-wave, extended dark adaptation:3-hour dark adapted  in both eyes, dark adapted 0.01: normal b-wave (lower limit), dark adapted 3.0: decreased a- and b-waves with slight recovery of b-wave, light adapted 3.0: decreased a- and b-waves, 30-Hz flicker: decreased b-wave"	""	""	""	""	""	""	""	""	"retinitis punctata albescens"	""	""
"0000315223"	"04214"	"00424016"	"00000"	"Familial, autosomal recessive"	"10y"	"duration of follow-up (years): 9-21; average examined age of comprehensive ophthalmic examinations: 10; best corrected visual acuity right, left eye (first examination; last examination; overall): -0.08, -0.08;-0.08, -0.08;-0.08, -0.08; refraction spherical equivalent right, left eye: -0.75D cyl. -0.75D, -1.00D cyl. -0.50Dfine white dots at midperipheral to peripheral retina in both eyes; fundus autofluorescence: not determined; optical coherence tomography: not determined; visual field (Goldmann perimetry): normal range in both eyes; full field electroretinography: standard dark adaptation: 30-min dark adapted  in both eyes, dark adapted 0.01: extinguished b-wave, dark adapted 3.0: slightly decreased a-wave and extinguished b-wave with electronegative waveform, light adapted 3.0: normal a- and b-waves, 30-Hz flicker: normal b-wave, extended dark adaptation:not determined"	""	""	""	""	""	""	""	""	"retinitis punctata albescens"	""	""
"0000315224"	"04214"	"00424017"	"00000"	"Familial, autosomal recessive"	"9y4m"	"duration of follow-up (years): 6-17; average examined age of comprehensive ophthalmic examinations: 9.33333333333333; best corrected visual acuity right, left eye (first examination; last examination; overall): -0.08, 0;-0.18, -0.18;-0.08, 0; refraction spherical equivalent right, left eye: +0.50D cyl. -0.75D, +0.50D cyl. -0.75D fine white dots from midperipheral to peripheral retina in both eyes; fundus autofluorescence: reduced autofluorescence in both eyes; optical coherence tomography: no abnormalities in right eye, a white dot in left eye*; visual field (Goldmann perimetry): normal range in both eyes; full field electroretinography: standard dark adaptation: 30-min dark adapted  in right eye, dark adapted 0.01: extinguished b-wave, dark adapted 3.0: decreased a- and b-waves with electronegative waveform, light adapted 3.0: normal a- and b-waves, 30-Hz flicker: normal b-wave, extended dark adaptation:3-hour dark adapted  in left eye, dark adapted 0.01: normal b-wave, dark adapted 3.0: normal a- and b-waves, light adapted 3.0: normal a- and b-waves, 30-Hz flicker: normal b-wave"	""	""	""	""	""	""	""	""	"retinitis punctata albescens"	""	""
"0000315225"	"04214"	"00424018"	"00000"	"Familial, autosomal recessive"	"10y6m"	"duration of follow-up (years): 3-14; average examined age of comprehensive ophthalmic examinations: 10.5; best corrected visual acuity right, left eye (first examination; last examination; overall): 0.10, 0.05;-0.18, -0.08;0.10, 0.05; refraction spherical equivalent right, left eye: +0.50D cyl. -1.25D, +0.25D cyl. -1.00D fine white dots from midperipheral to peripheral retina in both eyes; fundus autofluorescence: reduced autofluorescence in both eyes; optical coherence tomography: no abnormalities; visual field (Goldmann perimetry): normal range in both eyes; full field electroretinography: standard dark adaptation: 20-min dark adapted  in right eye, dark adapted 0.01: extinguished b-wave, dark adapted 3.0: decreased a- and b-waves, light adapted 3.0: normal a- and b-waves, 30-Hz flicker: normal b-wave, extended dark adaptation:3-hour dark adapted  in left eye, dark adapted 0.01: normal b-wave, dark adapted 3.0: normal a- and b-waves, light adapted 3.0: normal a- and b-waves, 30-Hz flicker: normal b-wave"	""	""	""	""	""	""	""	""	"retinitis punctata albescens"	""	""
"0000315226"	"04214"	"00424019"	"00000"	"Familial, autosomal recessive"	"30y4m"	"duration of follow-up (years): 27-34; average examined age of comprehensive ophthalmic examinations: 30.3333333333333; best corrected visual acuity right, left eye (first examination; last examination; overall): -0.18, -0.18;-0.18, -0.18;-0.18, -0.18; refraction spherical equivalent right, left eye: -0.25D cyl. -0.50D, -0.25Dfine, partial white dots at midperipheral retina in both eyes; fundus autofluorescence: reduced autofluorescence in both eyes; optical coherence tomography: no abnormalities; visual field (Goldmann perimetry): normal range in both eyes; full field electroretinography: standard dark adaptation: 30-min dark adapted  in both eyes, dark adapted 0.01: extinguished b-wave, dark adapted 3.0: decreased a- and b-waves with electronegative waveform, light adapted 3.0: normal a- and b-waves, 30-Hz flicker: normal b-wave, extended dark adaptation:3-hour dark adapted  in both eyes, dark adapted 0.01: normal b-wave, dark adapted 3.0: normal a- and b-waves, light adapted 3.0: normal a- and b-waves, 30-Hz flicker: normal b-wave"	""	""	""	""	""	""	""	""	"retinitis punctata albescens"	""	""
"0000315227"	"04214"	"00424020"	"00000"	"Familial, autosomal recessive"	"60y2m"	"duration of follow-up (years): 59-66; average examined age of comprehensive ophthalmic examinations: 60.1666666666667; best corrected visual acuity right, left eye (first examination; last examination; overall): -0.08, 0.15;0.05, 0.82;-0.08, 0.15; refraction spherical equivalent right, left eye: +4.50D cyl. -1.00D, +4.75D cyl. -1.25Dfine white dots at midperipheral to peripheral retina in both eyes, myelinated nerve fibers in right eye, macular degeneration in both eyes; fundus autofluorescence: reduced autofluorescence, crescent-shaped hyper-autofluorescence around fovea, and irregular autofluorescence around fovea in both eyes; optical coherence tomography: diffuse disruption of external limiting membrane, ellipsoid zone, and interdigitation zone, and outer nuclear layer thinning with foveal sparing in both eyes; visual field (Goldmann perimetry): preserved peripheral visual field and relative central scotomas in both eyes; full field electroretinography: standard dark adaptation: 30-min dark adapted  in both eyes, dark adapted 0.01: extinguished b-wave, dark adapted 3.0: decreased a- and b-waves, light adapted 3.0: slightly decreased a- and b-waves, 30-Hz flicker: slightly decreased b-wave, extended dark adaptation:2-hour dark adapted  in both eyes, dark adapted 0.01: severly decreased b-wave, dark adapted 3.0: slightly decreased a- and b-waves, light adapted 3.0: slightly decreased a- and b-waves, 30-Hz flicker: slightly decreased b-wave"	""	""	""	""	""	""	""	""	"retinitis punctata albescens"	""	""
"0000315228"	"04214"	"00424021"	"00000"	"Familial, autosomal recessive"	"57y6m"	"duration of follow-up (years): 57-60; average examined age of comprehensive ophthalmic examinations: 57.5; best corrected visual acuity right, left eye (first examination; last examination; overall): 0.10, 0.05;0, 0.05;0.10, 0.05; refraction spherical equivalent right, left eye: -16.75D cyl. -1.00D, -14.50D cyl. -1.75D slightly inconspicuous white dots from midperipheral to peripheral retina in both eyes, chorioretinal atrophy in both eyes; fundus autofluorescence: absent autofluorescence in both eyes; optical coherence tomography: slight epiretinal membrane in both eyes; visual field (Goldmann perimetry): constriction of peripheral visual field in I-4e isopters in both eyes; full field electroretinography: standard dark adaptation: 30-min dark adapted  in both eyes, dark adapted 0.01: extinguished b-wave, dark adapted 3.0: decreased a- an b-waves, light adapted 3.0: decreased a- and b-waves, 30-Hz flicker: decreased b-wave, extended dark adaptation:2-hour dark adapted  in both eyes, dark adapted 0.01: severly decreased b-wave, dark adapted 3.0: subnormal decreased a- and b-waves, light adapted 3.0: decreased a- and b-waves, 30-Hz flicker: decreased b-wave"	""	""	""	""	""	""	""	""	"retinitis punctata albescens"	""	""
"0000315229"	"04214"	"00424022"	"00000"	"Familial, autosomal recessive"	"56y"	"duration of follow-up (years): 56-56; average examined age of comprehensive ophthalmic examinations: 56; best corrected visual acuity right, left eye (first examination; last examination; overall): 0, 0;0, 0;0, 0; refraction spherical equivalent right, left eye: -0.50D cyl. -2.50D, -0.50D cyl. -3.00Dfine white dots from midperipheral to peripheral retina in both eyes; fundus autofluorescence: reduced autofluorescence in both eyes; optical coherence tomography: no abnormalities; visual field (Goldmann perimetry): not determined; full field electroretinography: standard dark adaptation: not determined, extended dark adaptation:not determined"	""	""	""	""	""	""	""	""	"retinitis punctata albescens"	""	""
"0000315230"	"04214"	"00424023"	"00000"	"Familial, autosomal recessive"	"78y"	"duration of follow-up (years): 64-78; average examined age of comprehensive ophthalmic examinations: 78; best corrected visual acuity right, left eye (first examination; last examination; overall): -0.08, 0.05;0.70, 0.82;0.70, 0.82; refraction spherical equivalent right, left eye: -1.75D cyl. -3.25D (IOL), -2.00D cyl. -2.50D (IOL)inconspicuous white dots from midperipheral to peripheral retina, and macular degeneration in both eyes, chorioretinal atrophy in both eyes; fundus autofluorescence: reduced autofluorescence, ring-shaped hyper-autofluorescence around fovea in both eyes; optical coherence tomography: diffuse disruption of external limiting membrane, ellipsoid zone, and interdigitation zone, and outer nuclear layer thinning throughout the macula in both eyes; visual field (Goldmann perimetry): constriction of peripheral visual field in I-4e isopters, and relative central scotomas in both eyes; full field electroretinography: standard dark adaptation: 30-min dark adapted  in both eyes, dark adapted 0.01: extinguished b-wave, dark adapted 3.0: decreased a- and b-waves, light adapted 3.0: decreased a- and b-waves, 30-Hz flicker: decreased b-wave, extended dark adaptation:2-hour dark adapted  in both eyes, dark adapted 0.01: severely decreasd b-wave, dark adapted 3.0: normal a- and b-waves, light adapted 3.0: decreased a- and b-waves, 30-Hz flicker: decreased b-wave"	""	""	""	""	""	""	""	""	"retinitis punctata albescens"	""	""
"0000315231"	"04214"	"00424024"	"00000"	"Familial, autosomal recessive"	"44y"	"duration of follow-up (years): 44-46; average examined age of comprehensive ophthalmic examinations: 44; best corrected visual acuity right, left eye (first examination; last examination; overall): -0.08, 0;0.10, 0.10;-0.08, 0; refraction spherical equivalent right, left eye: +2.25D cyl. -1.50D, +2.25D cyl. -1.25D fine white dots from midperipheral to peripheral retina in both eyes; fundus autofluorescence: reduced autofluorescence in both eyes; optical coherence tomography: no abnormalities; visual field (Goldmann perimetry): not determined; full field electroretinography: standard dark adaptation: 30-min dark adapted  in both eyes, dark adapted 0.01: severely decreased b-wave, dark adapted 3.0: normal a- an b-waves, light adapted 3.0: normal a- and b-waves, 30-Hz flicker: normal b-wave, extended dark adaptation:2-hour dark adapted  in both eyes, dark adapted 0.01: normal b-wave, dark adapted 3.0: normal a- an b-waves, light adapted 3.0: normal a- and b-waves, 30-Hz flicker: normal b-wave"	""	""	""	""	""	""	""	""	"retinitis punctata albescens"	""	""
"0000315232"	"04214"	"00424025"	"00000"	"Familial, autosomal recessive"	"58y"	"duration of follow-up (years): 58-59; average examined age of comprehensive ophthalmic examinations: 58; best corrected visual acuity right, left eye (first examination; last examination; overall): 0.10, 0;0.05, 0;0.10, 0; refraction spherical equivalent right, left eye: +0.00D cyl. -0.25D, -0.25D cyl. -0.50D inconspicuous, partial white dots from midperipheral to peripheral retina, and macular degeneration in both eyes; fundus autofluorescence: reduced autofluorescence, and irregular autofluorescence around fovea in both eyes; optical coherence tomography:  diffuse disruption of ellipsoid zone and interdigitation zone, and outer nuclear layer thinning with foveal sparing in both eyes; visual field (Goldmann perimetry): not determined; full field electroretinography: standard dark adaptation: 30-min dark adapted  in both eyes, dark adapted 0.01: extinguished b-wave, dark adapted 3.0: severely decreased a- and b-waves with electronegative waveform, light adapted 3.0: decreased a- and b-waves, 30-Hz flicker: decreased b-wave, extended dark adaptation:2-hour dark adapted  in both eyes, dark adapted 0.01: decreased b-wave, dark adapted 3.0: decreased a- and b-waves, light adapted 3.0: decreased a- and b-waves, 30-Hz flicker: decreased b-wave"	""	""	""	""	""	""	""	""	"retinitis punctata albescens"	""	""
"0000315233"	"04214"	"00424026"	"00000"	"Familial, autosomal recessive"	"57y2m"	"duration of follow-up (years): 57-59; average examined age of comprehensive ophthalmic examinations: 57.1666666666667; best corrected visual acuity right, left eye (first examination; last examination; overall): 0, 0;0, 0;0, 0; refraction spherical equivalent right, left eye: +3.50D cyl. -0.50D, +3.5D cyl. -0.25D inconspicuous, partial white dots at peripheral retina, and macular degeneration in both eyes; fundus autofluorescence: reduced autofluorescence, and irregular autofluorescence around fovea in both eyes; optical coherence tomography: diffuse disruption of ellipsoid zone and interdigitation zone with foveal sparing in both eyes; visual field (Goldmann perimetry): not determined; full field electroretinography: standard dark adaptation: 30-min dark adapted  in both eyes, dark adapted 0.01: extinguished b-wave, dark adapted 3.0: decreased a- and b-waves with electronegative waveform, light adapted 3.0: decreased a- and b-waves, 30-Hz flicker: decreased b-wave, extended dark adaptation:2-hour dark adapted  in both eyes, dark adapted 0.01: normal b-wave, dark adapted 3.0: normal a- and b-waves, light adapted 3.0: decreased a- and b-waves, 30-Hz flicker: decreased b-wave"	""	""	""	""	""	""	""	""	"retinitis punctata albescens"	""	""
"0000315234"	"04214"	"00424027"	"00000"	"Familial, autosomal recessive"	"77y2m"	"duration of follow-up (years): 77-79; average examined age of comprehensive ophthalmic examinations: 77.1666666666667; best corrected visual acuity right, left eye (first examination; last examination; overall): 0.22, 0.10;0.15, 0.15;0.22, 0.10; refraction spherical equivalent right, left eye: +0.00D cyl. -2.25D, -1.50D cyl. -2.75D inconspicuous, partial white dots at peripheral retina, and macular degeneration in both eyes, chorioretinal atrophy in both eyes; fundus autofluorescence: absent autofluorescence in both eyes; optical coherence tomography:  diffuse disruption of external limiting membrane, ellipsoid zone, and interdigitation zone, and outer nuclear layer thinning with foveal sparing in both eyes; visual field (Goldmann perimetry): constriction of peripheral visual field in I-4e isopters, and relative paracentral scotomas in both eyes; full field electroretinography: standard dark adaptation: 15-min dark adapted  in both eyes, dark adapted 0.01: extinguished b-wave, dark adapted 3.0: severely decreased a- and b-waves with electronegative waveform, light adapted 3.0: decreased a- and b-waves, 30-Hz flicker: decreased b-wave, extended dark adaptation:3-hour dark adapted  in both eyes, dark adapted 0.01: slightly decreased b-wave, dark adapted 3.0: normal a- and b-waves, light adapted 3.0: decreased a- and b-waves, 30-Hz flicker: decreased b-wave"	""	""	""	""	""	""	""	""	"retinitis punctata albescens"	""	""
"0000315235"	"04214"	"00424028"	"00000"	"Familial, autosomal recessive"	"16y"	"duration of follow-up (years): 16-16; average examined age of comprehensive ophthalmic examinations: 16; best corrected visual acuity right, left eye (first examination; last examination; overall): -0.08, 0;-0.08, 0;-0.08, 0; refraction spherical equivalent right, left eye: +0.25D cyl. -4.00D, -1.50D cyl. -4.00D fine white dots from midperipheral to peripheral retina in both eyes; fundus autofluorescence: reduced autofluorescence in both eyes; optical coherence tomography: no abnormalities; visual field (Goldmann perimetry): normal range in both eyes; full field electroretinography: standard dark adaptation: 30-min dark adapted  in both eyes, dark adapted 0.01: extinguished b-wave, dark adapted 3.0: severely decreased a- and b-waves, light adapted 3.0: decreased a- and b-waves, 30-Hz flicker: decreased b-wave, extended dark adaptation:2-hour dark adapted  in both eyes, dark adapted 0.01: normal b-wave, dark adapted 3.0: normal a- and b-waves, light adapted 3.0: not determined, 30-Hz flicker: not determined"	""	""	""	""	""	""	""	""	"retinitis punctata albescens"	""	""
"0000315236"	"04214"	"00424029"	"00000"	"Familial, autosomal recessive"	"58y6m"	"duration of follow-up (years): 55-66; average examined age of comprehensive ophthalmic examinations: 58.5; best corrected visual acuity right, left eye (first examination; last examination; overall): 0.10, 0.22;0.10, 0;0.10, 0; refraction spherical equivalent right, left eye: -3.75D cyl.-1.00D, -4.50Dfine white dots in the arcade veseels and from midperipheral to peripheral retina, and sparse white dots around fovea in both eyes; fundus autofluorescence: not determined; optical coherence tomography:  diffuse disruption of external limiting membrane, ellipsoid zone, and interdigitation zone, and slight outer nuclear layer thinning with foveal sparing in both eyes; visual field (Goldmann perimetry): absolute scotomas in midperipheral visual field in both eyes; full field electroretinography: standard dark adaptation: 30-min dark adapted  in both eyes, dark adapted 0.01: extinguished b-wave, dark adapted 3.0: severely decreased a- and b-waves, light adapted 3.0: decreased a- and b-waves, 30-Hz flicker: decreased b-wave, extended dark adaptation:2-hour dark adapted  in both eyes, dark adapted 0.01: decreased b-wave, dark adapted 3.0: decreased a- and b-waves, light adapted 3.0: decreased a- and b-waves, 30-Hz flicker: decreased b-wave"	""	""	""	""	""	""	""	""	"retinitis punctata albescens"	""	""
"0000315237"	"04214"	"00424030"	"00000"	"Familial, autosomal recessive"	"39y6m"	"duration of follow-up (years): 33-42; average examined age of comprehensive ophthalmic examinations: 39.5; best corrected visual acuity right, left eye (first examination; last examination; overall): 0.05, 0.15;0.52, 1.00;0.52, 1.00; refraction spherical equivalent right, left eye: not determinedfine white dots in the arcade veseels and from midperipheral to peripheral retina, and ring-shaped macular discoloration in both eyes; fundus autofluorescence: not determined; optical coherence tomography: diffuse disruption of external limiting membrane, ellipsoid zone, and interdigitation zone, and outer nuclear layer thinning throughout the macula in both eyes; visual field (Goldmann perimetry): absolute central scotoma in both eyes; full field electroretinography: standard dark adaptation: not determined, extended dark adaptation:not determined"	""	""	""	""	""	""	""	""	"retinitis punctata albescens"	""	""
"0000315238"	"04214"	"00424031"	"00000"	"Familial, autosomal recessive"	"49y"	"duration of follow-up (years): 34-50; average examined age of comprehensive ophthalmic examinations: 49; best corrected visual acuity right, left eye (first examination; last examination; overall): -0.08, -0.08;-0.18, -0.18;-0.18, -0.18; refraction spherical equivalent right, left eye: +0.50D, +0.75Dfine white dots in the arcade veseels and from midperipheral to peripheral retina in both eyes; fundus autofluorescence: reduced autofluorescence in both eyes; optical coherence tomography: white dots in both eyes*; visual field (Goldmann perimetry): normal range in both eyes; full field electroretinography: standard dark adaptation: 30-min dark adapted  in both eyes, dark adapted 0.01: extinguished b-wave, dark adapted 3.0: severely decreased a- and b-waves, light adapted 3.0: slightly decreased a- and b-waves, 30-Hz flicker: slightly decreased b-wave, extended dark adaptation:2-hour dark adapted  in both eyes, dark adapted 0.01: decreased b-wave, dark adapted 3.0: decreased a- and b-waves, light adapted 3.0: slightly decreased a- and b-waves, 30-Hz flicker: slightly decreased b-wave"	""	""	""	""	""	""	""	""	"retinitis punctata albescens"	""	""
"0000315239"	"04214"	"00424032"	"00000"	"Familial, autosomal recessive"	"9y"	"duration of follow-up (years): 7-10; average examined age of comprehensive ophthalmic examinations: 9; best corrected visual acuity right, left eye (first examination; last examination; overall): 0, -0.08;-0.08, -0.08;-0.08, -0.08; refraction spherical equivalent right, left eye: +3.50D cyl.-2.00D, +3.75D cyl. -2.75Dfine white dots from midperipheral to peripheral retina in both eyes; fundus autofluorescence: absent autofluorescence in both eyes; optical coherence tomography: no abnormalities; visual field (Goldmann perimetry): normal range in both eyes; full field electroretinography: standard dark adaptation: 30-min dark adapted  in both eyes, dark adapted 0.01: extinguished b-wave, dark adapted 3.0: severely decreased a- and b-waves, light adapted 3.0: decreased a- and b-waves, 30-Hz flicker: slightly decreased b-wave, extended dark adaptation:2-hour dark adapted  in both eyes, dark adapted 0.01: decreased b-wave, dark adapted 3.0: decreased a- and b-waves, light adapted 3.0: not determined, 30-Hz flicker: not determined"	""	""	""	""	""	""	""	""	"retinitis punctata albescens"	""	""
"0000315240"	"04214"	"00424033"	"00000"	"Familial, autosomal recessive"	"21y"	"duration of follow-up (years): 20-23; average examined age of comprehensive ophthalmic examinations: 21; best corrected visual acuity right, left eye (first examination; last examination; overall): 0, 0;0, 0;0, 0; refraction spherical equivalent right, left eye: +2.75D cyl.-2.25D, +2.75D cyl. -1.75Dfine white dots from midperipheral to peripheral retina in both eyes; fundus autofluorescence: hyper-autofluorescence dots and slightly reduced autofluorescence in both eyes; optical coherence tomography: no abnormalities; visual field (Goldmann perimetry): normal range in both eyes; full field electroretinography: standard dark adaptation: 30-min dark adapted  in both eyes, dark adapted 0.01: extinguished b-wave, dark adapted 3.0: severely decreased a- and b-waves, light adapted 3.0: decreased a- and b-waves, 30-Hz flicker: normal b-wave, extended dark adaptation:2-hour dark adapted  in both eyes, dark adapted 0.01: decreased b-wave, dark adapted 3.0: decreased a- and b-waves, light adapted 3.0: decreased a- and b-waves, 30-Hz flicker: normal b-wave"	""	""	""	""	""	""	""	""	"retinitis punctata albescens"	""	""
"0000315241"	"04214"	"00424034"	"00000"	"Familial, autosomal recessive"	"17y2m"	"duration of follow-up (years): 13-20; average examined age of comprehensive ophthalmic examinations: 17.2; best corrected visual acuity right, left eye (first examination; last examination; overall): 0, 0;0, 0;0, 0.05; refraction spherical equivalent right, left eye: +5.50D cyl.-2.50D, +6.25D cyl. -3.75Dfine white dots from midperipheral to peripheral retina in both eyes; fundus autofluorescence: slightly reduced autofluorescence in both eyes; optical coherence tomography: no abnormalities; visual field (Goldmann perimetry): preserved peripheral visual field and relative central scotomas in both eyes; full field electroretinography: standard dark adaptation: 30-min dark adapted  in right eye, dark adapted 0.01: extinguished b-wave, dark adapted 3.0: decreased a- and b-waves with electronegative waveform, light adapted 3.0: normal a- and b-waves, 30-Hz flicker: normal b-wave, extended dark adaptation:2-hour dark adapted  in left eye, dark adapted 0.01: normal b-wave , dark adapted 3.0: normal a- and b-waves, light adapted 3.0: not determined, 30-Hz flicker: not determined"	""	""	""	""	""	""	""	""	"retinitis punctata albescens"	""	""
"0000315242"	"04214"	"00424035"	"00000"	"Familial, autosomal recessive"	"50y7m"	"duration of follow-up (years): 45-52; average examined age of comprehensive ophthalmic examinations: 50.6; best corrected visual acuity right, left eye (first examination; last examination; overall): 0, 0;0, 0;0, 0; refraction spherical equivalent right, left eye: +0.75D cyl.-0.50D, +0.25Dfine white dots in the arcade veseels and from midperipheral to peripheral retina in both eyes; fundus autofluorescence: hyper-autofluorescence dots and slightly reduced autofluorescence in both eyes; optical coherence tomography: white dots in both eyes*; visual field (Goldmann perimetry): not determined; full field electroretinography: standard dark adaptation: 30-min dark adapted  in both eyes, dark adapted 0.01: extinguished b-wave, dark adapted 3.0: decreased a- and b-waves, light adapted 3.0: decreased a- and b-waves, 30-Hz flicker: normal b-wave, extended dark adaptation:2-hour dark adapted  in both eyes, dark adapted 0.01: decreased b-wave , dark adapted 3.0: normal a- and b-waves, light adapted 3.0: decreased a- and b-waves, 30-Hz flicker: normal b-wave"	""	""	""	""	""	""	""	""	"retinitis punctata albescens"	""	""
"0000315243"	"04214"	"00424036"	"00000"	"Familial, autosomal recessive"	"60y10m"	"duration of follow-up (years): 60-62; average examined age of comprehensive ophthalmic examinations: 60.8; best corrected visual acuity right, left eye (first examination; last examination; overall): 0, 0;0, 0;0, 0; refraction spherical equivalent right, left eye: +0.75D cyl.-1.25D, cyl. -0.75Dfine, partial white dots from midperipheral to peripheral retina, and white dots around fovea in both eyes, chorioretinal atrophy in both eyes; fundus autofluorescence: reduced autofluorescence, and irregular autofluorescence around fovea in both eyes; optical coherence tomography: diffuse disruption of external limiting membrane, ellipsoid zone, and interdigitation zone, and outer nuclear layer thinning with foveal sparing in both eyes, white dots in both eyes*; visual field (Goldmann perimetry): not determined; full field electroretinography: standard dark adaptation: 30-min dark adapted  in both eyes, dark adapted 0.01: extinguished b-wave, dark adapted 3.0: decreased a- and b-waves, light adapted 3.0: decreased a- and b-waves, 30-Hz flicker: normal b-wave, extended dark adaptation:2-hour dark adapted  in both eyes, dark adapted 0.01: extinguished b-wave, dark adapted 3.0: slightly decreased a- and b- waves, light adapted 3.0: decreased a- and b-waves, 30-Hz flicker: normal range"	""	""	""	""	""	""	""	""	"retinitis punctata albescens"	""	""
"0000315244"	"04214"	"00424037"	"00000"	"Familial, autosomal recessive"	"47y6m"	"duration of follow-up (years): 48-54; average examined age of comprehensive ophthalmic examinations: 47.5; best corrected visual acuity right, left eye (first examination; last examination; overall): 0, 0;0.05, 0.10;0, 0; refraction spherical equivalent right, left eye: -2.50D cyl.-1.00D, -0.50D cyl. -1.00Dinconspicuous, partial white dots from midperipheral to peripheral retina, and macular degeneration in both eyes; fundus autofluorescence: reduced autofluorescence, and irregular autofluorescence around fovea in both eyes; optical coherence tomography: diffuse disruption of external limiting membrane, ellipsoid zone, and interdigitation zone, and outer nuclear layer thinning with foveal sparing in both eyes; visual field (Goldmann perimetry): preserved peripheral visual field and relative central scotomas in both eyes; full field electroretinography: standard dark adaptation: 30-min dark adapted  in both eyes, dark adapted 0.01: extinguished b-wave, dark adapted 3.0: decreased a- and b-waves with electronegative waveform, light adapted 3.0: decreased a- and b-waves, 30-Hz flicker: decreased b-wave, extended dark adaptation:90-min dark adapted  in left eye , dark adapted 0.01: decreased b-wave, dark adapted 3.0: subnormal a- and b-waves with electronegative waveform, light adapted 3.0: slightly decreased a- and b-waves, 30-Hz flicker: slightly decreased b-wave"	""	""	""	""	""	""	""	""	"retinitis punctata albescens"	""	""
"0000315245"	"04214"	"00424038"	"00000"	"Familial, autosomal recessive"	"57y6m"	"duration of follow-up (years): 57-61; average examined age of comprehensive ophthalmic examinations: 57.5; best corrected visual acuity right, left eye (first examination; last examination; overall): 0, 0;0.05, 0.10;0, 0.05; refraction spherical equivalent right, left eye: +1.00D cyl. -3.00D, cyl. -2.00Dfien white dots in the arcade veseels and from midperipheral to peripheral retina, and macular degeneration in both eyes; fundus autofluorescence: reduced autofluorescence in both eyes and ring-shaped hyper-autofluorescence around fovea in left eye; optical coherence tomography: diffuse disruption of external limiting membrane, ellipsoid zone, and interdigitation zone, and outer nuclear layer thinning with foveal sparing in both eyes, white dots in both eyes*; visual field (Humphrey): ring-scotoma at the macula in both eyes; full field electroretinography: standard dark adaptation: 30-min dark adapted  in right eye, dark adapted 0.01: extinguished b-wave, dark adapted 3.0: decreased a- and b-waves with electronegative waveform, light adapted 3.0: slightly decreased a- and b-waves, 30-Hz flicker: slightly decreased b-wave, extended dark adaptation:90-min dark adapted  in left eye, dark adapted 0.01: normal b-wave, dark adapted 3.0: normal a- and b-waves, light adapted 3.0: slightly decreased a- and b-waves, 30-Hz flicker: slightly decreased b-wave"	""	""	""	""	""	""	""	""	"retinitis punctata albescens"	""	""
"0000315246"	"04214"	"00424039"	"00000"	"Familial, autosomal recessive"	"59y"	"duration of follow-up (years): 56-63; average examined age of comprehensive ophthalmic examinations: 59; best corrected visual acuity right, left eye (first examination; last examination; overall): 0, 0;0, -0.08;-0.08, -0.08; refraction spherical equivalent right, left eye: +1.25D cyl.-1.50D, +0.50D cyl. -1.50Dfine white dots in the arcade veseels and from midperipheral to peripheral retina in both eyes, macular degeneration in right eye, chorioretinal atrophy in both eyes; fundus autofluorescence: slightly reduced autofluorescence in both eyes, crescent-shaped hyper-autofluorescence around fovea in right eye, and mild irregular autofluorescence around fovea in left eye; optical coherence tomography: diffuse disruption of external limiting membrane, ellipsoid zone, and interdigitation zone, and outer nuclear layer thinning with foveal sparing in both eyes; visual field (Goldmann perimetry): constriction of peripheral visual field in I-4e isopters, and relative paracentral scotomas in both eyes; full field electroretinography: standard dark adaptation: 30-min dark adapted  in left eye, dark adapted 0.01: extinguished b-wave, dark adapted 3.0: slightly decreased a-wave and extinguished b-wave with electronegative waveform, light adapted 3.0: slightly decreased a- and b-waves, 30-Hz flicker: slightly decreased b-wave, extended dark adaptation:3 --hour dark adapted  in right eye, dark adapted 0.01: normal b-wave, dark adapted 3.0: slightly decreased a- and b-waves , light adapted 3.0: slightly decreased a- and b-waves, 30-Hz flicker: slightly decreased b-wave"	""	""	""	""	""	""	""	""	"retinitis punctata albescens"	""	""
"0000325340"	"01339"	"00435100"	"04364"	"Familial, autosomal recessive"	""	"fundus albipunctatus"	""	""	""	""	""	""	""	""	""	"fundus albipunctatus"	""
"0000340037"	"04249"	"00450982"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""


## Screenings ## Do not remove or alter this header ##
## Count = 224
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000001618"	"00001815"	"1"	"00102"	"00102"	"2013-08-08 22:55:09"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000088093"	"00087953"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088094"	"00087954"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088095"	"00087955"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088096"	"00087956"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088097"	"00087957"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088098"	"00087958"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088099"	"00087959"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088100"	"00087960"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088101"	"00087961"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088102"	"00087962"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088103"	"00087963"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088104"	"00087964"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088105"	"00087965"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088106"	"00087966"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088107"	"00087967"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088108"	"00087968"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088109"	"00087969"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088110"	"00087970"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088111"	"00087971"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088112"	"00087972"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088113"	"00087973"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088114"	"00087974"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088115"	"00087975"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088116"	"00087976"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088117"	"00087977"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088118"	"00087978"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088119"	"00087979"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088120"	"00087980"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088121"	"00087981"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088122"	"00087982"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088123"	"00087983"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR; SEQ"	"DNA"	""	""
"0000088124"	"00087984"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR; SEQ"	"DNA"	""	""
"0000088125"	"00087985"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR; SEQ"	"DNA"	""	""
"0000088126"	"00087986"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR; SEQ"	"DNA"	""	""
"0000088127"	"00087987"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR"	"DNA"	""	""
"0000088128"	"00087988"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR; SEQ"	"DNA"	""	""
"0000088129"	"00087989"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR; SEQ"	"DNA"	""	""
"0000088130"	"00087990"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR; SEQ; SSCA"	"DNA"	""	""
"0000088131"	"00087991"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR; SEQ; SSCA"	"DNA"	""	""
"0000088132"	"00087992"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR; SEQ"	"DNA"	""	""
"0000088133"	"00087993"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR; SEQ"	"DNA"	""	""
"0000088134"	"00087994"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR; SEQ"	"DNA"	""	""
"0000088135"	"00087995"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR; SEQ; arraySNP"	"DNA"	""	""
"0000088136"	"00087996"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR; SEQ; arraySNP"	"DNA"	""	""
"0000088137"	"00087997"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR; SEQ; arraySNP"	"DNA"	""	""
"0000088138"	"00087998"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR; SEQ; arraySNP"	"DNA"	""	""
"0000088139"	"00087999"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR; SEQ; arraySNP"	"DNA"	""	""
"0000088140"	"00088000"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR; SEQ"	"DNA"	""	""
"0000088141"	"00088001"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR; SEQ"	"DNA"	""	""
"0000088142"	"00088002"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR; SEQ"	"DNA"	""	""
"0000088143"	"00088003"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR; SEQ"	"DNA"	""	""
"0000088144"	"00088004"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR; SEQ; SSCA"	"DNA"	""	""
"0000088145"	"00088005"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR; SEQ; SSCA"	"DNA"	""	""
"0000088146"	"00088006"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088147"	"00088007"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088148"	"00088008"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088149"	"00088009"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088150"	"00088010"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"SEQ"	"DNA"	""	""
"0000088151"	"00088011"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088152"	"00088012"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088153"	"00088013"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR; SEQ; arraySNP"	"DNA"	""	""
"0000088154"	"00088014"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR; SEQ; arraySNP"	"DNA"	""	""
"0000088155"	"00088015"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088156"	"00088016"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088157"	"00088017"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088158"	"00088018"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088159"	"00088019"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088160"	"00088020"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR; SEQ;SSCA"	"DNA"	""	""
"0000088161"	"00088021"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR; SEQ;SSCA"	"DNA"	""	""
"0000088162"	"00088022"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR; SEQ;SSCA"	"DNA"	""	""
"0000088163"	"00088023"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR; SEQ;SSCA"	"DNA"	""	""
"0000088164"	"00088024"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR; SEQ;SSCA"	"DNA"	""	""
"0000088165"	"00088025"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR; SEQ;SSCA"	"DNA"	""	""
"0000088166"	"00088026"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR; SEQ"	"DNA"	""	""
"0000088167"	"00088027"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR; SEQ"	"DNA"	""	""
"0000088168"	"00088028"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR; SEQ"	"DNA"	""	""
"0000088169"	"00088029"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR; SEQ"	"DNA"	""	""
"0000088170"	"00088030"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR; SEQ"	"DNA"	""	""
"0000088171"	"00088031"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR; SEQ"	"DNA"	""	""
"0000088172"	"00088032"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR; SEQ"	"DNA"	""	""
"0000088173"	"00088033"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR; SEQ"	"DNA"	""	""
"0000088174"	"00088034"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR; SEQ"	"DNA"	""	""
"0000088175"	"00088035"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088176"	"00088036"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088177"	"00088037"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088178"	"00088038"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088179"	"00088039"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088180"	"00088040"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088181"	"00088041"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088182"	"00088042"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088183"	"00088043"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088184"	"00088044"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088185"	"00088045"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088186"	"00088046"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088187"	"00088047"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088188"	"00088048"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088189"	"00088049"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088190"	"00088050"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088191"	"00088051"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088192"	"00088052"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000088193"	"00088053"	"1"	"00234"	"00234"	"2012-10-12 15:17:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000096334"	"00095931"	"1"	"01769"	"01769"	"2017-01-25 21:42:13"	""	""	"SEQ"	"DNA"	"WBC"	""
"0000100487"	"00100083"	"1"	"01769"	"01769"	"2017-01-30 16:35:59"	""	""	"SEQ"	"DNA"	"WBC"	""
"0000100509"	"00100105"	"1"	"01769"	"01769"	"2017-01-30 20:16:07"	""	""	"SEQ"	"DNA"	"WBC"	""
"0000156402"	"00155537"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000156403"	"00155538"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000156404"	"00155539"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000156405"	"00155540"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000156406"	"00155541"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000291928"	"00290760"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000310488"	"00309343"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310489"	"00309344"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310490"	"00309345"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310491"	"00309346"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310492"	"00309347"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310493"	"00309348"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310494"	"00309349"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310496"	"00309351"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310497"	"00309352"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310498"	"00309353"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310499"	"00309354"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310500"	"00309355"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310501"	"00309356"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310502"	"00309357"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000326623"	"00325412"	"1"	"00006"	"00006"	"2021-01-03 11:36:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"199 gene panel"
"0000326640"	"00325429"	"1"	"00006"	"00006"	"2021-01-03 11:36:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"199 gene panel"
"0000333200"	"00331981"	"1"	"00000"	"00006"	"2021-02-14 10:12:05"	""	""	"SEQ-NG"	"DNA"	""	""
"0000336115"	"00334886"	"1"	"00000"	"00006"	"2021-03-02 11:57:03"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000336672"	"00335443"	"1"	"00006"	"00006"	"2021-03-05 16:25:56"	""	""	"SEQ-NG"	"DNA"	""	"283-gene panel"
"0000360341"	"00359103"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000375123"	"00373891"	"1"	"00000"	"00006"	"2021-05-21 15:01:30"	""	""	"SEQ-NG"	"DNA"	""	"238-gene panel"
"0000378706"	"00377503"	"1"	"00000"	"03840"	"2021-07-22 14:34:00"	""	""	"?"	"DNA"	""	"various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES"
"0000380718"	"00379518"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"PCR"	"DNA"	"blood"	""
"0000382236"	"00381022"	"1"	"00000"	"00008"	"2021-08-25 12:56:54"	""	""	"arraySEQ;SEQ;PCR"	"DNA"	"blood"	""
"0000382823"	"00381607"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ-NG-I;SEQ-NG-R;SEQ"	"DNA"	"blood"	""
"0000382938"	"00381722"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"PCR;SEQ-NG"	"DNA"	"blood or a saliva sample"	""
"0000383805"	"00382591"	"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"
"0000383999"	"00382783"	"1"	"00000"	"00008"	"2021-09-13 01:01:20"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000385270"	"00384045"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385285"	"00384060"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000387208"	"00385980"	"1"	"00000"	"00008"	"2021-10-19 12:24:34"	""	""	"SEQ-NG;arraySNP"	"DNA"	"blood"	"only individuals V:4, V:5, V:9, and V:16 were exome sequenced."
"0000387422"	"00386193"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387447"	"00386218"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387453"	"00386224"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387463"	"00386234"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000388850"	"00387624"	"1"	"00000"	"03840"	"2021-10-29 23:13:01"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000390335"	"00389092"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000390596"	"00389353"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000391273"	"00390032"	"1"	"00000"	"03840"	"2021-11-08 12:45:13"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"326 selected genes from whole exome sequencing"
"0000392447"	"00391205"	"1"	"00000"	"03840"	"2021-11-13 11:00:19"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole exome sequencing"
"0000392448"	"00391206"	"1"	"00000"	"03840"	"2021-11-13 11:00:19"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole exome sequencing"
"0000395036"	"00393788"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG"	"DNA"	""	"hereditary eye disease enrichment panel (HEDEP)"
"0000415186"	"00413906"	"1"	"00000"	"03840"	"2022-07-25 15:29:29"	""	""	"SEQ"	"DNA"	"blood"	""
"0000415192"	"00413912"	"1"	"00000"	"03840"	"2022-07-25 16:01:24"	""	""	"?"	"DNA"	""	"in vitro assays"
"0000415193"	"00413913"	"1"	"00000"	"03840"	"2022-07-25 16:01:24"	""	""	"?"	"DNA"	""	"in vitro assays"
"0000415194"	"00413914"	"1"	"00000"	"03840"	"2022-07-25 16:01:24"	""	""	"?"	"DNA"	""	"in vitro assays"
"0000415195"	"00413915"	"1"	"00000"	"03840"	"2022-07-25 16:01:24"	""	""	"?"	"DNA"	""	"in vitro assays"
"0000415196"	"00413916"	"1"	"00000"	"03840"	"2022-07-25 16:01:24"	""	""	"?"	"DNA"	""	"in vitro assays"
"0000415197"	"00413917"	"1"	"00000"	"03840"	"2022-07-25 16:01:24"	""	""	"?"	"DNA"	""	"in vitro assays"
"0000415198"	"00413918"	"1"	"00000"	"03840"	"2022-07-25 16:01:24"	""	""	"?"	"DNA"	""	"in vitro assays"
"0000415199"	"00413919"	"1"	"00000"	"03840"	"2022-07-25 16:01:24"	""	""	"?"	"DNA"	""	"in vitro assays"
"0000415200"	"00413920"	"1"	"00000"	"03840"	"2022-07-25 16:01:24"	""	""	"?"	"DNA"	""	"in vitro assays"
"0000415201"	"00413921"	"1"	"00000"	"03840"	"2022-07-25 16:01:24"	""	""	"?"	"DNA"	""	"in vitro assays"
"0000415202"	"00413922"	"1"	"00000"	"03840"	"2022-07-25 16:01:24"	""	""	"?"	"DNA"	""	"in vitro assays"
"0000415212"	"00413932"	"1"	"00000"	"03840"	"2022-07-25 18:01:24"	""	""	"SEQ"	"DNA"	""	""
"0000415213"	"00413933"	"1"	"00000"	"03840"	"2022-07-25 18:01:24"	""	""	"SEQ"	"DNA"	""	""
"0000415214"	"00413934"	"1"	"00000"	"03840"	"2022-07-25 18:21:03"	""	""	"SEQ"	"DNA"	""	""
"0000415242"	"00413962"	"1"	"00000"	"03840"	"2022-07-26 12:00:20"	""	""	"arraySNP;SEQ"	"DNA"	""	"homozygosity mapping"
"0000415243"	"00413963"	"1"	"00000"	"03840"	"2022-07-26 12:00:20"	""	""	"arraySNP;SEQ"	"DNA"	""	"homozygosity mapping"
"0000415244"	"00413964"	"1"	"00000"	"03840"	"2022-07-26 12:00:20"	""	""	"arraySNP;SEQ"	"DNA"	""	"homozygosity mapping"
"0000415245"	"00413965"	"1"	"00000"	"03840"	"2022-07-26 12:00:20"	""	""	"arraySNP;SEQ"	"DNA"	""	"homozygosity mapping"
"0000415246"	"00413966"	"1"	"00000"	"03840"	"2022-07-26 12:00:20"	""	""	"arraySNP;SEQ"	"DNA"	""	"homozygosity mapping"
"0000415247"	"00413967"	"1"	"00000"	"03840"	"2022-07-26 12:00:20"	""	""	"arraySNP;SEQ"	"DNA"	""	"homozygosity mapping"
"0000415248"	"00413968"	"1"	"00000"	"03840"	"2022-07-26 12:00:20"	""	""	"arraySNP;SEQ"	"DNA"	""	"homozygosity mapping"
"0000415251"	"00413971"	"1"	"00000"	"03840"	"2022-07-26 13:02:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000415252"	"00413972"	"1"	"00000"	"03840"	"2022-07-26 13:02:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000415253"	"00413973"	"1"	"00000"	"03840"	"2022-07-26 13:02:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000415254"	"00413974"	"1"	"00000"	"03840"	"2022-07-26 13:02:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000415255"	"00413975"	"1"	"00000"	"03840"	"2022-07-26 13:02:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000415258"	"00413978"	"1"	"00000"	"03840"	"2022-07-26 13:30:55"	""	""	"SEQ"	"DNA"	"blood"	""
"0000415259"	"00413979"	"1"	"00000"	"03840"	"2022-07-26 13:30:55"	""	""	"SEQ"	"DNA"	"blood"	""
"0000415260"	"00413980"	"1"	"00000"	"03840"	"2022-07-26 13:30:55"	""	""	"SEQ"	"DNA"	"blood"	""
"0000415261"	"00413981"	"1"	"00000"	"03840"	"2022-07-26 13:30:55"	""	""	"SEQ"	"DNA"	"blood"	""
"0000415262"	"00413982"	"1"	"00000"	"03840"	"2022-07-26 13:41:25"	""	""	"SEQ"	"DNA"	"blood"	""
"0000415294"	"00414016"	"1"	"00000"	"03840"	"2022-07-26 17:22:02"	""	""	"SEQ"	"DNA"	"blood"	""
"0000415295"	"00414017"	"1"	"00000"	"03840"	"2022-07-26 17:22:02"	""	""	"SEQ"	"DNA"	"blood"	""
"0000415296"	"00414018"	"1"	"00000"	"03840"	"2022-07-26 17:22:02"	""	""	"SEQ"	"DNA"	"blood"	""
"0000424637"	"00423327"	"1"	"00000"	"03840"	"2022-11-15 15:00:41"	""	""	"?"	"DNA"	""	""
"0000424638"	"00423328"	"1"	"00000"	"03840"	"2022-11-15 15:00:41"	""	""	"?"	"DNA"	""	""
"0000424639"	"00423329"	"1"	"00000"	"03840"	"2022-11-15 15:00:41"	""	""	"?"	"DNA"	""	""
"0000424640"	"00423330"	"1"	"00000"	"03840"	"2022-11-15 15:00:41"	""	""	"?"	"DNA"	""	""
"0000424641"	"00423331"	"1"	"00000"	"03840"	"2022-11-15 15:00:41"	""	""	"?"	"DNA"	""	""
"0000424642"	"00423332"	"1"	"00000"	"03840"	"2022-11-15 15:00:41"	""	""	"?"	"DNA"	""	""
"0000424643"	"00423333"	"1"	"00000"	"03840"	"2022-11-15 15:00:41"	""	""	"?"	"DNA"	""	""
"0000424644"	"00423334"	"1"	"00000"	"03840"	"2022-11-15 15:00:41"	""	""	"?"	"DNA"	""	""
"0000425325"	"00424015"	"1"	"00000"	"03840"	"2022-11-16 11:01:12"	""	""	"?"	"DNA"	""	""
"0000425326"	"00424016"	"1"	"00000"	"03840"	"2022-11-16 11:01:12"	""	""	"?"	"DNA"	""	""
"0000425327"	"00424017"	"1"	"00000"	"03840"	"2022-11-16 11:01:12"	""	""	"?"	"DNA"	""	""
"0000425328"	"00424018"	"1"	"00000"	"03840"	"2022-11-16 11:01:12"	""	""	"?"	"DNA"	""	""
"0000425329"	"00424019"	"1"	"00000"	"03840"	"2022-11-16 11:01:12"	""	""	"?"	"DNA"	""	""
"0000425330"	"00424020"	"1"	"00000"	"03840"	"2022-11-16 11:01:12"	""	""	"?"	"DNA"	""	""
"0000425331"	"00424021"	"1"	"00000"	"03840"	"2022-11-16 11:01:12"	""	""	"?"	"DNA"	""	""
"0000425332"	"00424022"	"1"	"00000"	"03840"	"2022-11-16 11:01:12"	""	""	"?"	"DNA"	""	""
"0000425333"	"00424023"	"1"	"00000"	"03840"	"2022-11-16 11:01:12"	""	""	"?"	"DNA"	""	""
"0000425334"	"00424024"	"1"	"00000"	"03840"	"2022-11-16 11:01:12"	""	""	"?"	"DNA"	""	""
"0000425335"	"00424025"	"1"	"00000"	"03840"	"2022-11-16 11:01:12"	""	""	"?"	"DNA"	""	""
"0000425336"	"00424026"	"1"	"00000"	"03840"	"2022-11-16 11:01:12"	""	""	"?"	"DNA"	""	""
"0000425337"	"00424027"	"1"	"00000"	"03840"	"2022-11-16 11:01:12"	""	""	"?"	"DNA"	""	""
"0000425338"	"00424028"	"1"	"00000"	"03840"	"2022-11-16 11:01:12"	""	""	"?"	"DNA"	""	""
"0000425339"	"00424029"	"1"	"00000"	"03840"	"2022-11-16 11:01:12"	""	""	"?"	"DNA"	""	""
"0000425340"	"00424030"	"1"	"00000"	"03840"	"2022-11-16 11:01:12"	""	""	"?"	"DNA"	""	""
"0000425341"	"00424031"	"1"	"00000"	"03840"	"2022-11-16 11:01:12"	""	""	"?"	"DNA"	""	""
"0000425342"	"00424032"	"1"	"00000"	"03840"	"2022-11-16 11:01:12"	""	""	"?"	"DNA"	""	""
"0000425343"	"00424033"	"1"	"00000"	"03840"	"2022-11-16 11:01:12"	""	""	"?"	"DNA"	""	""
"0000425344"	"00424034"	"1"	"00000"	"03840"	"2022-11-16 11:01:12"	""	""	"?"	"DNA"	""	""
"0000425345"	"00424035"	"1"	"00000"	"03840"	"2022-11-16 11:01:12"	""	""	"?"	"DNA"	""	""
"0000425346"	"00424036"	"1"	"00000"	"03840"	"2022-11-16 11:01:12"	""	""	"?"	"DNA"	""	""
"0000425347"	"00424037"	"1"	"00000"	"03840"	"2022-11-16 11:01:12"	""	""	"?"	"DNA"	""	""
"0000425348"	"00424038"	"1"	"00000"	"03840"	"2022-11-16 11:01:12"	""	""	"?"	"DNA"	""	""
"0000425349"	"00424039"	"1"	"00000"	"03840"	"2022-11-16 11:01:12"	""	""	"?"	"DNA"	""	""
"0000436572"	"00435100"	"1"	"04364"	"04364"	"2023-05-09 21:11:16"	""	""	"SEQ-NG"	"DNA"	""	"Fundus albipunctatus OMIM:136880"
"0000452580"	"00450982"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452814"	"00451215"	"1"	"00006"	"00006"	"2024-05-31 11:39:36"	""	""	"SEQ"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 221
"{{screeningid}}"	"{{geneid}}"
"0000088093"	"RDH5"
"0000088094"	"RDH5"
"0000088095"	"RDH5"
"0000088096"	"RDH5"
"0000088097"	"RDH5"
"0000088098"	"RDH5"
"0000088099"	"RDH5"
"0000088100"	"RDH5"
"0000088101"	"RDH5"
"0000088102"	"RDH5"
"0000088103"	"RDH5"
"0000088104"	"RDH5"
"0000088105"	"RDH5"
"0000088106"	"RDH5"
"0000088107"	"RDH5"
"0000088108"	"RDH5"
"0000088109"	"RDH5"
"0000088110"	"RDH5"
"0000088111"	"RDH5"
"0000088112"	"RDH5"
"0000088113"	"RDH5"
"0000088114"	"RDH5"
"0000088115"	"RDH5"
"0000088116"	"RDH5"
"0000088117"	"RDH5"
"0000088118"	"RDH5"
"0000088119"	"RDH5"
"0000088120"	"RDH5"
"0000088121"	"RDH5"
"0000088122"	"RDH5"
"0000088123"	"RDH5"
"0000088124"	"RDH5"
"0000088125"	"RDH5"
"0000088126"	"RDH5"
"0000088127"	"RDH5"
"0000088128"	"RDH5"
"0000088129"	"RDH5"
"0000088130"	"RDH5"
"0000088131"	"RDH5"
"0000088132"	"RDH5"
"0000088133"	"RDH5"
"0000088134"	"RDH5"
"0000088135"	"RDH5"
"0000088136"	"RDH5"
"0000088137"	"RDH5"
"0000088138"	"RDH5"
"0000088139"	"RDH5"
"0000088140"	"RDH5"
"0000088141"	"RDH5"
"0000088142"	"RDH5"
"0000088143"	"RDH5"
"0000088144"	"RDH5"
"0000088145"	"RDH5"
"0000088146"	"RDH5"
"0000088147"	"RDH5"
"0000088148"	"RDH5"
"0000088149"	"RDH5"
"0000088150"	"RDH5"
"0000088151"	"RDH5"
"0000088152"	"RDH5"
"0000088153"	"RDH5"
"0000088154"	"RDH5"
"0000088155"	"RDH5"
"0000088156"	"RDH5"
"0000088157"	"RDH5"
"0000088158"	"RDH5"
"0000088159"	"RDH5"
"0000088160"	"RDH5"
"0000088161"	"RDH5"
"0000088162"	"RDH5"
"0000088163"	"RDH5"
"0000088164"	"RDH5"
"0000088165"	"RDH5"
"0000088166"	"RDH5"
"0000088167"	"RDH5"
"0000088168"	"RDH5"
"0000088169"	"RDH5"
"0000088170"	"RDH5"
"0000088171"	"RDH5"
"0000088172"	"RDH5"
"0000088173"	"RDH5"
"0000088174"	"RDH5"
"0000088175"	"RDH5"
"0000088176"	"RDH5"
"0000088177"	"RDH5"
"0000088178"	"RDH5"
"0000088179"	"RDH5"
"0000088180"	"RDH5"
"0000088181"	"RDH5"
"0000088182"	"RDH5"
"0000088183"	"RDH5"
"0000088184"	"RDH5"
"0000088185"	"RDH5"
"0000088186"	"RDH5"
"0000088187"	"RDH5"
"0000088188"	"RDH5"
"0000088189"	"RDH5"
"0000088190"	"RDH5"
"0000088191"	"RDH5"
"0000088192"	"RDH5"
"0000088193"	"RDH5"
"0000096334"	"RDH5"
"0000100487"	"RDH5"
"0000100509"	"RDH5"
"0000156402"	"RDH5"
"0000156403"	"RDH5"
"0000156404"	"RDH5"
"0000156405"	"RDH5"
"0000156406"	"RDH5"
"0000310488"	"RDH5"
"0000310489"	"RDH5"
"0000310490"	"RDH5"
"0000310491"	"RDH5"
"0000310492"	"RDH5"
"0000310493"	"RDH5"
"0000310494"	"RDH5"
"0000310496"	"RDH5"
"0000310497"	"RDH5"
"0000310498"	"RDH5"
"0000310499"	"RDH5"
"0000310500"	"RDH5"
"0000310501"	"RDH5"
"0000310502"	"RDH5"
"0000326623"	"RDH5"
"0000326640"	"RDH5"
"0000333200"	"RDH5"
"0000336115"	"RDH5"
"0000336672"	"RDH5"
"0000375123"	"RDH5"
"0000378706"	"RDH5"
"0000380718"	"RDH5"
"0000382236"	"RDH5"
"0000382823"	"RDH5"
"0000382938"	"RDH5"
"0000383805"	"RDH5"
"0000383999"	"RBP3"
"0000383999"	"RDH5"
"0000383999"	"RDH8"
"0000383999"	"RLBP1"
"0000385270"	"RDH5"
"0000385285"	"RDH5"
"0000387208"	"LRP1"
"0000387422"	"PRPF3"
"0000387447"	"ABCA4"
"0000387453"	"C21orf2"
"0000387463"	"RDH5"
"0000388850"	"RDH5"
"0000390335"	"RDH5"
"0000390596"	"RDH5"
"0000391273"	"RDH5"
"0000392447"	"RDH5"
"0000392448"	"RDH5"
"0000395036"	"RDH5"
"0000415186"	"RDH5"
"0000415192"	"RDH5"
"0000415193"	"RDH5"
"0000415194"	"RDH5"
"0000415195"	"RDH5"
"0000415196"	"RDH5"
"0000415197"	"RDH5"
"0000415198"	"RDH5"
"0000415199"	"RDH5"
"0000415200"	"RDH5"
"0000415201"	"RDH5"
"0000415202"	"RDH5"
"0000415212"	"RDH5"
"0000415213"	"RDH5"
"0000415214"	"RDH5"
"0000415242"	"RDH5"
"0000415243"	"RDH5"
"0000415244"	"RDH5"
"0000415245"	"RDH5"
"0000415246"	"RDH5"
"0000415247"	"RDH5"
"0000415248"	"RDH5"
"0000415251"	"RDH5"
"0000415252"	"RDH5"
"0000415253"	"RDH5"
"0000415254"	"RDH5"
"0000415255"	"RDH5"
"0000415258"	"RDH5"
"0000415259"	"RDH5"
"0000415260"	"RDH5"
"0000415261"	"RDH5"
"0000415262"	"RDH5"
"0000415294"	"RDH5"
"0000415295"	"RDH5"
"0000415296"	"RDH5"
"0000424637"	"RDH5"
"0000424638"	"RDH5"
"0000424639"	"RDH5"
"0000424640"	"RDH5"
"0000424641"	"RDH5"
"0000424642"	"RDH5"
"0000424643"	"RDH5"
"0000424644"	"RDH5"
"0000425325"	"RDH5"
"0000425326"	"RDH5"
"0000425327"	"RDH5"
"0000425328"	"RDH5"
"0000425329"	"RDH5"
"0000425330"	"RDH5"
"0000425331"	"RDH5"
"0000425332"	"RDH5"
"0000425333"	"RDH5"
"0000425334"	"RDH5"
"0000425335"	"RDH5"
"0000425336"	"RDH5"
"0000425337"	"RDH5"
"0000425338"	"RDH5"
"0000425339"	"RDH5"
"0000425340"	"RDH5"
"0000425341"	"RDH5"
"0000425342"	"RDH5"
"0000425343"	"RDH5"
"0000425344"	"RDH5"
"0000425345"	"RDH5"
"0000425346"	"RDH5"
"0000425347"	"RDH5"
"0000425348"	"RDH5"
"0000425349"	"RDH5"


## 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 = 298
"{{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}}"
"0000019528"	"0"	"55"	"12"	"56118211"	"56118211"	"subst"	"8.52972E-5"	"00102"	"RDH5_000202"	"g.56118211G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.55724427G>A"	""	"VUS"	""
"0000140635"	"3"	"75"	"12"	"56115023"	"56115023"	"subst"	"0"	"00234"	"RDH5_000001"	"g.56115023A>G"	""	"{PMID:Sergouniotis 2011:21529959}"	""	""	"Homozugous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55721239A>G"	""	"likely pathogenic"	""
"0000140636"	"3"	"75"	"12"	"56115039"	"56115042"	"del"	"0"	"00234"	"RDH5_000187"	"g.56115039_56115042del"	""	"{PMID:Pras 2012:22815624}"	""	"242delTGCC"	"Homozygous deletion mutation"	"Germline"	""	""	"0"	""	""	"g.55721255_55721258del"	""	"likely pathogenic"	""
"0000140637"	"3"	"75"	"12"	"56115039"	"56115042"	"del"	"0"	"00234"	"RDH5_000189"	"g.56115039_56115042del"	""	"{PMID:Pras 2012:22815624}"	""	"244delTGCC"	"Homozygous deletion mutation"	"Germline"	""	""	"0"	""	""	"g.55721255_55721258del"	""	"likely pathogenic"	""
"0000140638"	"3"	"75"	"12"	"56115039"	"56115042"	"del"	"0"	"00234"	"RDH5_000191"	"g.56115039_56115042del"	""	"{PMID:Pras 2012:22815624}"	""	"246delTGCC"	"Homozygous deletion mutation"	"Germline"	""	""	"0"	""	""	"g.55721255_55721258del"	""	"likely pathogenic"	""
"0000140639"	"1"	"75"	"12"	"56115063"	"56115063"	"del"	"0"	"00234"	"RDH5_000003"	"g.56115063del"	""	"{PMID:Schatz 2010:20829743}"	""	"95delT"	"Compound heterozygous mutation"	"Germline"	""	""	"0"	""	""	"g.55721279del"	""	"likely pathogenic"	""
"0000140640"	"1"	"75"	"12"	"56115066"	"56115066"	"subst"	"0"	"00234"	"RDH5_000005"	"g.56115066T>A"	""	"{PMID:Ruther 2004:14991316}"	""	""	"Compound heterozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55721282T>A"	""	"likely pathogenic"	""
"0000140641"	"1"	"75"	"12"	"56115066"	"56115066"	"subst"	"1.22007E-5"	"00234"	"RDH5_000007"	"g.56115066T>C"	""	"{PMID:Sergouniotis 2011:21529959}"	""	""	"Compound heterozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55721282T>C"	""	"likely pathogenic"	""
"0000140642"	"3"	"75"	"12"	"56115071"	"56115071"	"subst"	"2.03368E-5"	"00234"	"RDH5_000009"	"g.56115071G>A"	""	"{PMID:Nakamura 2000:11053295}, {PMID:Nakamura 2003:12906118}"	""	"nt 103 G to A"	"Homozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55721287G>A"	""	"likely pathogenic"	""
"0000140643"	"3"	"75"	"12"	"56115071"	"56115071"	"subst"	"2.03368E-5"	"00234"	"RDH5_000011"	"g.56115071G>A"	""	"{PMID:Nakamura 2000:11053295}, {PMID:Nakamura 2003:12906118}"	""	"nt 103 G to A"	"Homozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55721287G>A"	""	"likely pathogenic"	""
"0000140644"	"3"	"75"	"12"	"56115071"	"56115071"	"subst"	"2.03368E-5"	"00234"	"RDH5_000013"	"g.56115071G>A"	""	"{PMID:Wada 2001:11448328}"	""	""	"Homozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55721287G>A"	""	"likely pathogenic"	""
"0000140645"	"3"	"75"	"12"	"56115071"	"56115071"	"subst"	"2.03368E-5"	"00234"	"RDH5_000015"	"g.56115071G>A"	""	"{PMID:Querques 2009:19433727}"	""	""	"Homozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55721287G>A"	""	"likely pathogenic"	""
"0000140646"	"1"	"75"	"12"	"56115071"	"56115071"	"subst"	"2.03368E-5"	"00234"	"RDH5_000017"	"g.56115071G>A"	""	"{PMID:Nakamura 2000:11053295}, {PMID:Nakamura 2003:12906118}"	""	"nt 103 G to A"	"Compound heterozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55721287G>A"	""	"likely pathogenic"	""
"0000140647"	"1"	"75"	"12"	"56115071"	"56115071"	"subst"	"2.03368E-5"	"00234"	"RDH5_000019"	"g.56115071G>A"	""	"{PMID:Niwa 2005:15790919}"	""	"nt 103 G to A"	"Compound heterozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55721287G>A"	""	"likely pathogenic"	""
"0000140648"	"1"	"75"	"12"	"56115071"	"56115071"	"subst"	"2.03368E-5"	"00234"	"RDH5_000021"	"g.56115071G>A"	""	"{PMID:Niwa 2005:15790919}"	""	"nt 103 G to A"	"Compound heterozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55721287G>A"	""	"likely pathogenic"	""
"0000140649"	"1"	"75"	"12"	"56115092"	"56115092"	"subst"	"8.13941E-6"	"00234"	"RDH5_000023"	"g.56115092C>T"	""	"{PMID:Niwa 2005:15790919}"	""	"124C?T"	"Compound heterozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55721308C>T"	""	"likely pathogenic"	""
"0000140650"	"3"	"75"	"12"	"56115097"	"56115097"	"del"	"0"	"00234"	"RDH5_000025"	"g.56115097del"	""	"{PMID:Driessen 2001:11470705}"	""	"Arg42ct[1-bpdel]"	"Homozygous frameshift mutation"	"Germline"	""	""	"0"	""	""	"g.55721313del"	""	"likely pathogenic"	""
"0000140651"	"3"	"75"	"12"	"56115128"	"56115128"	"subst"	"3.67395E-5"	"00234"	"RDH5_000167"	"g.56115128C>T"	""	"{PMID:Pras 2012:22815624}"	""	"343C>T"	"Homozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55721344C>T"	""	"likely pathogenic"	""
"0000140652"	"3"	"75"	"12"	"56115128"	"56115128"	"subst"	"3.67395E-5"	"00234"	"RDH5_000169"	"g.56115128C>T"	""	"{PMID:Pras 2012:22815624}"	""	"343C>T"	"Homozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55721344C>T"	""	"likely pathogenic"	""
"0000140653"	"3"	"75"	"12"	"56115128"	"56115128"	"subst"	"3.67395E-5"	"00234"	"RDH5_000171"	"g.56115128C>T"	""	"{PMID:Pras 2012:22815624}"	""	"343C>T"	"Homozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55721344C>T"	""	"likely pathogenic"	""
"0000140654"	"3"	"75"	"12"	"56115128"	"56115128"	"subst"	"3.67395E-5"	"00234"	"RDH5_000173"	"g.56115128C>T"	""	"{PMID:Pras 2012:22815624}"	""	"343C>T"	"Homozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55721344C>T"	""	"likely pathogenic"	""
"0000140655"	"3"	"75"	"12"	"56115128"	"56115128"	"subst"	"3.67395E-5"	"00234"	"RDH5_000175"	"g.56115128C>T"	""	"{PMID:Pras 2012:22815624}"	""	"343C>T"	"Homozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55721344C>T"	""	"likely pathogenic"	""
"0000140656"	"3"	"75"	"12"	"56115128"	"56115128"	"subst"	"3.67395E-5"	"00234"	"RDH5_000177"	"g.56115128C>T"	""	"{PMID:Pras 2012:22815624}"	""	"343C>T"	"Homozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55721344C>T"	""	"likely pathogenic"	""
"0000140657"	"3"	"75"	"12"	"56115128"	"56115128"	"subst"	"3.67395E-5"	"00234"	"RDH5_000179"	"g.56115128C>T"	""	"{PMID:Pras 2012:22815624}"	""	"343C>T"	"Homozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55721344C>T"	""	"likely pathogenic"	""
"0000140658"	"3"	"75"	"12"	"56115128"	"56115128"	"subst"	"3.67395E-5"	"00234"	"RDH5_000181"	"g.56115128C>T"	""	"{PMID:Pras 2012:22815624}"	""	"343C>T"	"Homozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55721344C>T"	""	"likely pathogenic"	""
"0000140659"	"3"	"75"	"12"	"56115128"	"56115128"	"subst"	"3.67395E-5"	"00234"	"RDH5_000183"	"g.56115128C>T"	""	"{PMID:Pras 2012:22815624}"	""	"343C>T"	"Homozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55721344C>T"	""	"likely pathogenic"	""
"0000140660"	"3"	"75"	"12"	"56115128"	"56115128"	"subst"	"3.67395E-5"	"00234"	"RDH5_000185"	"g.56115128C>T"	""	"{PMID:Pras 2012:22815624}"	""	"343C>T"	"Homozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55721344C>T"	""	"likely pathogenic"	""
"0000140661"	"11"	"75"	"12"	"56115143"	"56115143"	"subst"	"0"	"00234"	"RDH5_000165"	"g.56115143T>A"	""	"{PMID:Wang 2012:22669287}"	""	""	"Compound heterozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55721359T>A"	""	"likely pathogenic"	""
"0000140662"	"10"	"75"	"12"	"56115179"	"56115182"	"dup"	"0"	"00234"	"RDH5_000027"	"g.56115179_56115182dup"	""	"{PMID:Driessen 2001:11470705}"	""	"211_214dupGTGG"	"Compound heterozygous frameshift mutation"	"Germline"	""	""	"0"	""	""	"g.55721395_55721398dup"	""	"likely pathogenic"	""
"0000140663"	"10"	"75"	"12"	"56115186"	"56115186"	"subst"	"4.07398E-6"	"00234"	"RDH5_000029"	"g.56115186C>T"	""	"{PMID:Yamamoto 1999:10369264}"	""	"Ser73Phe (TCC?TTC)"	"Compound heterozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55721402C>T"	""	"likely pathogenic"	""
"0000140664"	"21"	"75"	"12"	"56115253"	"56115253"	"subst"	"2.88275E-5"	"00234"	"RDH5_000166"	"g.56115253G>A"	""	"{PMID:Wang 2012:22669287}"	""	"Trp95Ter"	"Compound heterozygous nonsense mutation"	"Germline"	""	""	"0"	""	""	"g.55721469G>A"	""	"likely pathogenic"	""
"0000140665"	"1"	"75"	"12"	"56115279"	"56115279"	"subst"	"8.40555E-6"	"00234"	"RDH5_000031"	"g.56115279G>A"	""	"{PMID:Sergouniotis 2011:21529959}"	""	"320+1G>A (Splice defect)"	"Compound heterozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55721495G>A"	""	"likely pathogenic"	""
"0000140666"	"3"	"75"	"12"	"56115481"	"56115481"	"subst"	"0"	"00234"	"RDH5_000033"	"g.56115481G>C"	""	"{PMID:Hotta 2003:12788147}"	""	"G to C mutation at nt 319"	"Homozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55721697G>C"	""	"likely pathogenic"	""
"0000140667"	"3"	"75"	"12"	"56115481"	"56115481"	"subst"	"0"	"00234"	"RDH5_000035"	"g.56115481G>C"	""	"{PMID:Hotta 2003:12788147}"	""	"G to C mutation at nt 319"	"Homozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55721697G>C"	""	"likely pathogenic"	""
"0000140668"	"3"	"75"	"12"	"56115481"	"56115481"	"subst"	"0"	"00234"	"RDH5_000037"	"g.56115481G>C"	""	"{PMID:Sato 2004:15007239}"	""	"G to C mutation at nt 319"	"Homozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55721697G>C"	""	"likely pathogenic"	""
"0000140669"	"1"	"75"	"12"	"56115481"	"56115481"	"subst"	"0"	"00234"	"RDH5_000039"	"g.56115481G>C"	""	"{PMID:Nakamura 2000:11053295}"	""	"nt 319 G to C"	"Compound heterozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55721697G>C"	""	"likely pathogenic"	""
"0000140670"	"1"	"75"	"12"	"56115508"	"56115508"	"subst"	"0"	"00234"	"RDH5_000043"	"g.56115508G>C"	""	"{PMID:Sergouniotis 2011 :21529959}"	""	""	"Compound heterozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55721724G>C"	""	"likely pathogenic"	""
"0000140671"	"3"	"75"	"12"	"56115509"	"56115510"	"ins"	"0"	"00234"	"RDH5_000041"	"g.56115509_56115510insCAG"	""	"{PMID:Sergouniotis 2011:21529959}"	""	"346_347insGCA"	"Homozygous inframe Mutation"	"Germline"	""	""	"0"	""	""	"g.55721725_55721726insCAG"	""	"likely pathogenic"	""
"0000140672"	"3"	"75"	"12"	"56115544"	"56115544"	"subst"	"8.19827E-6"	"00234"	"RDH5_000045"	"g.56115544G>A"	""	"{PMID:Schatz 2010:20829743}"	""	""	"Homozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55721760G>A"	""	"likely pathogenic"	""
"0000140673"	"1"	"75"	"12"	"56115544"	"56115544"	"subst"	"8.19827E-6"	"00234"	"RDH5_000047"	"g.56115544G>A"	""	"{PMID:Iannaccone 2007:17476461}"	""	"GAT to AAT at codon 128"	"Compound heterozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55721760G>A"	""	"likely pathogenic"	""
"0000140674"	"3"	"75"	"12"	"56115544"	"56115544"	"subst"	"8.19827E-6"	"00234"	"RDH5_000193"	"g.56115544G>A"	""	"{PMID:Pras 2012:22815624}"	""	""	"Homozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55721760G>A"	""	"likely pathogenic"	""
"0000140675"	"3"	"75"	"12"	"56115544"	"56115544"	"subst"	"8.19827E-6"	"00234"	"RDH5_000195"	"g.56115544G>A"	""	"{PMID:Pras 2012:22815624}"	""	""	"Homozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55721760G>A"	""	"likely pathogenic"	""
"0000140676"	"3"	"75"	"12"	"56115544"	"56115544"	"subst"	"8.19827E-6"	"00234"	"RDH5_000197"	"g.56115544G>A"	""	"{PMID:Pras 2012:22815624}"	""	""	"Homozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55721760G>A"	""	"likely pathogenic"	""
"0000140677"	"1"	"75"	"12"	"56115556"	"56115556"	"subst"	"1.63609E-5"	"00234"	"RDH5_000049"	"g.56115556G>A"	""	"{PMID:Nakamura 2000:11053295}, {PMID:Nakamura 2003:12906118}"	""	"nt 394 G to A"	"Compound heterozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55721772G>A"	""	"likely pathogenic"	""
"0000140678"	"21"	"75"	"12"	"56115556"	"56115556"	"subst"	"1.63609E-5"	"00234"	"RDH5_000051"	"g.56115556G>A"	""	"{PMID:Nakamura 2004:15302662}, {PMID:Niwa 2005:15790919}"	""	"G to A at nucleotide 394"	"Compound heterozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55721772G>A"	""	"likely pathogenic"	""
"0000140679"	"21"	"75"	"12"	"56115556"	"56115556"	"subst"	"1.63609E-5"	"00234"	"RDH5_000053"	"g.56115556G>A"	""	"{PMID:Nakamura 2004:15302662}, {PMID:Niwa 2005:15790919}"	""	"G to A at nucleotide 394"	"Compound heterozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55721772G>A"	""	"likely pathogenic"	""
"0000140680"	"1"	"75"	"12"	"56115578"	"56115578"	"subst"	"0"	"00234"	"RDH5_000055"	"g.56115578G>T"	""	"{PMID:Sergouniotis 2011:21529959}"	""	"417G>T"	"Compound heterozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55721794G>T"	""	"likely pathogenic"	""
"0000140681"	"2"	"75"	"12"	"56115631"	"56115631"	"subst"	"4.09222E-5"	"00234"	"RDH5_000006"	"g.56115631C>T"	""	"{PMID:Ruther 2004:14991316}"	""	""	"Compound heterozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55721847C>T"	""	"likely pathogenic"	""
"0000140682"	"3"	"75"	"12"	"56115632"	"56115632"	"subst"	"3.27423E-5"	"00234"	"RDH5_000057"	"g.56115632G>A"	""	"{PMID:Sergouniotis 2011:21529959}"	""	""	"Homozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55721848G>A"	""	"likely pathogenic"	""
"0000140683"	"1"	"75"	"12"	"56115632"	"56115632"	"subst"	"3.27423E-5"	"00234"	"RDH5_000059"	"g.56115632G>A"	""	"{PMID:Hajali 2009:18949499}"	""	""	"Compound heterozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55721848G>A"	""	"likely pathogenic"	""
"0000140684"	"3"	"75"	"12"	"56115652"	"56115652"	"subst"	"0"	"00234"	"RDH5_000061"	"g.56115652G>T"	""	"{PMID:Yamamoto 2003:12967826}"	""	"G490T"	"Homozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55721868G>T"	""	"likely pathogenic"	""
"0000140685"	"11"	"75"	"12"	"56115692"	"56115692"	"subst"	"8.2445E-6"	"00234"	"RDH5_000063"	"g.56115692T>G"	""	"{PMID:Kuroiwa 2000:11078852}"	""	"GTC?GGC"	"Compound heterozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55721908T>G"	""	"likely pathogenic"	""
"0000140686"	"11"	"75"	"12"	"56115692"	"56115692"	"subst"	"8.2445E-6"	"00234"	"RDH5_000065"	"g.56115692T>G"	""	"{PMID:Hayashi 2006:16637847}"	""	"530T>G"	"Compound heterozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55721908T>G"	""	"likely pathogenic"	""
"0000140687"	"1"	"75"	"12"	"56117672"	"56117672"	"subst"	"2.85049E-5"	"00234"	"RDH5_000199"	"g.56117672G>A"	""	"{PMID:Pras 2012:22815624}"	""	"755G>A"	"Homozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55723888G>A"	""	"likely pathogenic"	""
"0000140688"	"3"	"75"	"12"	"56117725"	"56117725"	"subst"	"4.0623E-5"	"00234"	"RDH5_000067"	"g.56117725C>T"	""	"{PMID:Schatz 2010:20829743}"	""	""	"Homozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55723941C>T"	""	"likely pathogenic"	""
"0000140689"	"1"	"75"	"12"	"56117789"	"56117790"	"delins"	"0"	"00234"	"RDH5_000069"	"g.56117789_56117790delinsGG"	""	"{PMID:Wang 2008:18363170}"	"MnlI-"	"689_ 690CT>GG"	"Compound heterozygous missense mutation / Technique:  restriction endonuclease analysis"	"Germline"	""	""	"0"	""	""	"g.55724005_55724006delinsGG"	""	"likely pathogenic"	""
"0000140690"	"2"	"75"	"12"	"56117810"	"56117810"	"subst"	"1.23324E-5"	"00234"	"RDH5_000044"	"g.56117810A>C"	""	"{PMID:Sergouniotis 2011 :21529959}"	""	""	"Compound heterozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55724026A>C"	""	"likely pathogenic"	""
"0000140691"	"2"	"75"	"12"	"56117812"	"56117812"	"subst"	"0.000214612"	"00234"	"RDH5_000004"	"g.56117812G>T"	""	"{PMID:Schatz 2010:20829743}"	""	""	"Compound heterozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55724028G>T"	""	"likely pathogenic"	""
"0000140692"	"2"	"75"	"12"	"56117812"	"56117812"	"subst"	"0.000214612"	"00234"	"RDH5_000008"	"g.56117812G>T"	""	"{PMID:Sergouniotis 2011:21529959}"	""	""	"Compound heterozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55724028G>T"	""	"likely pathogenic"	""
"0000140693"	"21"	"75"	"12"	"56117812"	"56117812"	"subst"	"0.000214612"	"00234"	"RDH5_000030"	"g.56117812G>T"	""	"{PMID:Yamamoto 1999:10369264}"	""	"Gly238Trp (GGG?TGG)"	"Compound heterozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55724028G>T"	""	"likely pathogenic"	""
"0000140694"	"2"	"75"	"12"	"56117812"	"56117812"	"subst"	"0.000214612"	"00234"	"RDH5_000032"	"g.56117812G>T"	""	"{PMID:Sergouniotis 2011:21529959}"	""	""	"Compound heterozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55724028G>T"	""	"likely pathogenic"	""
"0000140695"	"2"	"75"	"12"	"56117812"	"56117812"	"subst"	"0.000214612"	"00234"	"RDH5_000048"	"g.56117812G>T"	""	"{PMID:Iannaccone 2007:17476461}"	""	"GGG to TGG at codon 238"	"Compound heterozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55724028G>T"	""	"likely pathogenic"	""
"0000140696"	"2"	"75"	"12"	"56117812"	"56117812"	"subst"	"0.000214612"	"00234"	"RDH5_000060"	"g.56117812G>T"	""	"{PMID:Hajali 2009:18949499}"	""	""	"Compound heterozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55724028G>T"	""	"likely pathogenic"	""
"0000140697"	"3"	"75"	"12"	"56117812"	"56117812"	"subst"	"0.000214612"	"00234"	"RDH5_000071"	"g.56117812G>T"	""	"{PMID:Yamamoto 1999:10369264}"	""	"GGG?TGG"	"Homozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55724028G>T"	""	"likely pathogenic"	""
"0000140698"	"3"	"75"	"12"	"56117812"	"56117812"	"subst"	"0.000214612"	"00234"	"RDH5_000073"	"g.56117812G>T"	""	"{PMID:Yamamoto 1999:10369264}"	""	"GGG?TGG"	"Homozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55724028G>T"	""	"likely pathogenic"	""
"0000140699"	"3"	"75"	"12"	"56117812"	"56117812"	"subst"	"0.000214612"	"00234"	"RDH5_000075"	"g.56117812G>T"	""	"{PMID:Gonzalez-Fernandez 1999:10617778}"	""	"GGG?TGG"	"Homozygous missense mutation / Technique: also used autoradiograph SEQ"	"Germline"	""	""	"0"	""	""	"g.55724028G>T"	""	"likely pathogenic"	""
"0000140700"	"3"	"75"	"12"	"56117812"	"56117812"	"subst"	"0.000214612"	"00234"	"RDH5_000077"	"g.56117812G>T"	""	"{PMID:Gonzalez-Fernandez 1999:10617778}"	""	"GGG?TGG"	"Homozygous missense mutation / Technique: also used autoradiograph SEQ"	"Germline"	""	""	"0"	""	""	"g.55724028G>T"	""	"likely pathogenic"	""
"0000140701"	"3"	"75"	"12"	"56117812"	"56117812"	"subst"	"0.000214612"	"00234"	"RDH5_000079"	"g.56117812G>T"	""	"{PMID:Sergouniotis 2011:21529959}"	""	"GGG?TGG"	"Homozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55724028G>T"	""	"likely pathogenic"	""
"0000140702"	"1"	"75"	"12"	"56117818"	"56117818"	"dup"	"0"	"00234"	"RDH5_000081"	"g.56117818dup"	""	"{PMID:Nakamura 2000:11053295}"	""	"719 G insertion"	"Homozygous frameshift mutation"	"Germline"	""	""	"0"	""	""	"g.55724034dup"	""	"likely pathogenic"	""
"0000140703"	"1"	"75"	"12"	"56117818"	"56117818"	"dup"	"0"	"00234"	"RDH5_000083"	"g.56117818dup"	""	"{PMID:Niwa 2005:15790919}"	""	"719 G insertion"	"Homozygous frameshift mutation"	"Germline"	""	""	"0"	""	""	"g.55724034dup"	""	"likely pathogenic"	""
"0000140704"	"3"	"75"	"12"	"56118130"	"56118130"	"subst"	"7.71542E-5"	"00234"	"RDH5_000085"	"g.56118130T>G"	""	"{PMID:Ajmal 2012:3380946}"	""	""	"Homozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55724346T>G"	""	"likely pathogenic"	""
"0000140705"	"3"	"75"	"12"	"56118130"	"56118130"	"subst"	"7.71542E-5"	"00234"	"RDH5_000087"	"g.56118130T>G"	""	"{PMID:Ajmal 2012:3380946}"	""	""	"Homozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55724346T>G"	""	"likely pathogenic"	""
"0000140706"	"3"	"75"	"12"	"56118130"	"56118130"	"subst"	"7.71542E-5"	"00234"	"RDH5_000089"	"g.56118130T>G"	""	"{PMID:Ajmal 2012:3380946}"	""	""	"Homozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55724346T>G"	""	"likely pathogenic"	""
"0000140707"	"3"	"75"	"12"	"56118130"	"56118130"	"subst"	"7.71542E-5"	"00234"	"RDH5_000091"	"g.56118130T>G"	""	"{PMID:Ajmal 2012:3380946}"	""	""	"Homozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55724346T>G"	""	"likely pathogenic"	""
"0000140708"	"3"	"75"	"12"	"56118130"	"56118130"	"subst"	"7.71542E-5"	"00234"	"RDH5_000093"	"g.56118130T>G"	""	"{PMID:Ajmal 2012:3380946}"	""	""	"Homozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55724346T>G"	""	"likely pathogenic"	""
"0000140709"	"3"	"75"	"12"	"56118163"	"56118163"	"subst"	"0"	"00234"	"RDH5_000095"	"g.56118163T>G"	""	"{PMID:Hirose 2000:11053296}"	""	"GTG?GGG"	"Homozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55724379T>G"	""	"likely pathogenic"	""
"0000140710"	"3"	"75"	"12"	"56118163"	"56118163"	"subst"	"0"	"00234"	"RDH5_000097"	"g.56118163T>G"	""	"{PMID:Hirose 2000:11053296}"	""	"GTG?GGG"	"Homozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55724379T>G"	""	"likely pathogenic"	""
"0000140711"	"3"	"75"	"12"	"56118163"	"56118163"	"subst"	"0"	"00234"	"RDH5_000099"	"g.56118163T>G"	""	"{PMID:Hirose 2000:11053296}"	""	"GTG?GGG"	"Homozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55724379T>G"	""	"likely pathogenic"	""
"0000140712"	"20"	"75"	"12"	"56118173"	"56118173"	"subst"	"0"	"00234"	"RDH5_000028"	"g.56118173C>G"	""	"{PMID:Driessen 2001:11470705}"	""	""	"Compound heterozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55724389C>G"	""	"likely pathogenic"	""
"0000140713"	"3"	"75"	"12"	"56118196"	"56118197"	"del"	"0"	"00234"	"RDH5_000101"	"g.56118196_56118197del"	""	"{PMID:Sergouniotis 2011:21529959}"	""	"824_825delGA"	"Homozygous frameshift mutation"	"Germline"	""	""	"0"	""	""	"g.55724412_55724413del"	""	"likely pathogenic"	""
"0000140714"	"1"	"75"	"12"	"56118205"	"56118205"	"subst"	"2.43681E-5"	"00234"	"RDH5_000201"	"g.56118205G>A"	""	"{PMID:Pras 2012:22815624}"	""	"1016G>A"	"Homozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55724421G>A"	""	"likely pathogenic"	""
"0000140715"	"2"	"75"	"12"	"56118211"	"56118211"	"subst"	"8.52972E-5"	"00234"	"RDH5_000001"	"g.56118211G>A"	""	"{PMID:Nakamura 2000:11053295}, {PMID:Nakamura 2003:12906118}"	""	"nt 839 G to A"	"Compound heterozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55724427G>A"	""	"likely pathogenic"	""
"0000140716"	"10"	"75"	"12"	"56118211"	"56118211"	"subst"	"8.52972E-5"	"00234"	"RDH5_000001"	"g.56118211G>A"	""	"{PMID:Nakamura 2004:15302662}, {PMID:Niwa 2005:15790919}"	""	"G to A at nucleotide 539"	"Compound heterozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55724427G>A"	""	"likely pathogenic"	""
"0000140717"	"10"	"75"	"12"	"56118211"	"56118211"	"subst"	"8.52972E-5"	"00234"	"RDH5_000001"	"g.56118211G>A"	""	"{PMID:Nakamura 2004:15302662}, {PMID:Niwa 2005:15790919}"	""	"G to A at nucleotide 539"	"Compound heterozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55724427G>A"	""	"likely pathogenic"	""
"0000140718"	"21"	"75"	"12"	"56118211"	"56118211"	"subst"	"8.52972E-5"	"00234"	"RDH5_000001"	"g.56118211G>A"	""	"{PMID:Kuroiwa 2000:11078852}"	""	"CGC?CAC"	"Compound heterozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55724427G>A"	""	"likely pathogenic"	""
"0000140719"	"1"	"95"	"12"	"56118211"	"56118211"	"subst"	"8.52972E-5"	"00234"	"RDH5_000001"	"g.56118211G>A"	""	"{PMID:Gonzalez-Fernandez 1999:10617778}"	""	"CGC?CAC"	"Compound heterozygous missense mutation /Technique: also used autoradiograph SEQ"	"Germline"	""	""	"0"	""	""	"g.55724427G>A"	""	"pathogenic"	""
"0000140720"	"1"	"95"	"12"	"56118211"	"56118211"	"subst"	"8.52972E-5"	"00234"	"RDH5_000001"	"g.56118211G>A"	""	"{PMID:Gonzalez-Fernandez 1999:10617778}"	""	"CGC?CAC"	"Compound heterozygous missense mutation /Technique: also used autoradiograph SEQ"	"Germline"	""	""	"0"	""	""	"g.55724427G>A"	""	"pathogenic"	""
"0000140721"	"1"	"75"	"12"	"56118211"	"56118211"	"subst"	"8.52972E-5"	"00234"	"RDH5_000001"	"g.56118211G>A"	""	"{PMID:Nakamura 2000:11053295}, {PMID:Nakamura 2003:12906118}"	""	"nt 839 G to A"	"Compound heterozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55724427G>A"	""	"likely pathogenic"	""
"0000140722"	"1"	"75"	"12"	"56118211"	"56118211"	"subst"	"8.52972E-5"	"00234"	"RDH5_000001"	"g.56118211G>A"	""	"{PMID:Sato 2004:15007239}"	""	""	"Compound heterozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55724427G>A"	""	"likely pathogenic"	""
"0000140723"	"1"	"75"	"12"	"56118211"	"56118211"	"subst"	"8.52972E-5"	"00234"	"RDH5_000001"	"g.56118211G>A"	""	"{PMID:Niwa 2005:15790919}"	""	"839 G?A"	"Compound heterozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55724427G>A"	""	"likely pathogenic"	""
"0000140724"	"1"	"75"	"12"	"56118211"	"56118211"	"subst"	"8.52972E-5"	"00234"	"RDH5_000001"	"g.56118211G>A"	""	"{PMID:Niwa 2005:15790919}"	""	"839 G?A"	"Compound heterozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55724427G>A"	""	"likely pathogenic"	""
"0000140725"	"1"	"75"	"12"	"56118211"	"56118211"	"subst"	"8.52972E-5"	"00234"	"RDH5_000001"	"g.56118211G>A"	""	"{PMID:Niwa 2005:15790919}"	""	"839 G?A"	"Compound heterozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55724427G>A"	""	"likely pathogenic"	""
"0000140726"	"2"	"75"	"12"	"56118213"	"56118213"	"subst"	"0"	"00234"	"RDH5_000082"	"g.56118213T>C"	""	"{PMID:Nakamura 2000:11053295}"	""	"841T?C"	"Homozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55724429T>C"	""	"likely pathogenic"	""
"0000140727"	"2"	"75"	"12"	"56118213"	"56118213"	"subst"	"0"	"00234"	"RDH5_000084"	"g.56118213T>C"	""	"{PMID:Niwa 2005:15790919}"	""	"841T?C"	"Homozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55724429T>C"	""	"likely pathogenic"	""
"0000140728"	"1"	"75"	"12"	"56118213"	"56118213"	"subst"	"0"	"00234"	"RDH5_000115"	"g.56118213T>C"	""	"{PMID:Nakamura 2002:11812441}"	""	"T to C at nt 841"	"Compound heterozygous missense mutation"	"Unknown"	""	""	"0"	""	""	"g.55724429T>C"	""	"likely pathogenic"	""
"0000140729"	"2"	"95"	"12"	"56118252"	"56118252"	"subst"	"1.21961E-5"	"00234"	"RDH5_000104"	"g.56118252G>C"	""	"{PMID:Gonzalez-Fernandez 1999:10617778}"	""	"GCC?CCC"	"Compound heterozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55724468G>C"	""	"pathogenic"	""
"0000140730"	"2"	"95"	"12"	"56118252"	"56118252"	"subst"	"1.21961E-5"	"00234"	"RDH5_000106"	"g.56118252G>C"	""	"{PMID:Gonzalez-Fernandez 1999:10617778}"	""	"GCC?CCC"	"Compound heterozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55724468G>C"	""	"pathogenic"	""
"0000140731"	"3"	"75"	"12"	"56118252"	"56118252"	"subst"	"1.21961E-5"	"00234"	"RDH5_000119"	"g.56118252G>C"	""	"{PMID:Schatz 2010:20829743}"	""	"881G>C"	"Homozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55724468G>C"	""	"likely pathogenic"	""
"0000140732"	"3"	"75"	"12"	"56118285"	"56118289"	"del"	"0"	"00234"	"RDH5_000121"	"g.56118285_56118289del"	""	"{PMID:Ajmal 2012:3380946}"	""	"913_917del GTGCT"	"5 bp deletion segregating in the family"	"Germline"	""	""	"0"	""	""	"g.55724501_55724505del"	""	"likely pathogenic"	""
"0000140733"	"3"	"75"	"12"	"56118285"	"56118289"	"del"	"0"	"00234"	"RDH5_000123"	"g.56118285_56118289del"	""	"{PMID:Ajmal 2012:3380946}"	""	"913_917del GTGCT"	"5 bp deletion segregating in the family"	"Germline"	""	""	"0"	""	""	"g.55724501_55724505del"	""	"likely pathogenic"	""
"0000140734"	"2"	"75"	"12"	"56118300"	"56118300"	"delins"	"0"	"00234"	"RDH5_000018"	"g.56118300delinsGAAG"	""	"{PMID:Nakamura 2000:11053295}, {PMID:Nakamura 2003:12906118}"	""	"nt 928 C to GAAG"	"Compound heterozygous deletion/insertion mutation"	"Germline"	""	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000140735"	"2"	"75"	"12"	"56118300"	"56118300"	"delins"	"0"	"00234"	"RDH5_000020"	"g.56118300delinsGAAG"	""	"{PMID:Niwa 2005:15790919}"	""	"nt 928 C to GAAG"	"Compound heterozygous deletion/insertion mutation"	"Germline"	""	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000140736"	"2"	"75"	"12"	"56118300"	"56118300"	"delins"	"0"	"00234"	"RDH5_000022"	"g.56118300delinsGAAG"	""	"{PMID:Niwa 2005:15790919}"	""	"nt 928 C to GAAG"	"Compound heterozygous deletion/insertion mutation"	"Germline"	""	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000140737"	"2"	"75"	"12"	"56118300"	"56118300"	"delins"	"0"	"00234"	"RDH5_000024"	"g.56118300delinsGAAG"	""	"{PMID:Niwa 2005:15790919}"	""	"928C?GAAG"	"Compound heterozygous deletion/insertion mutation"	"Germline"	""	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000140738"	"2"	"75"	"12"	"56118300"	"56118300"	"delins"	"0"	"00234"	"RDH5_000040"	"g.56118300delinsGAAG"	""	"{PMID:Nakamura 2000:11053295}"	""	"nt 928 C to GAAG"	"Compound heterozygous deletion/insertion mutation"	"Germline"	""	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000140739"	"21"	"75"	"12"	"56118300"	"56118300"	"delins"	"0"	"00234"	"RDH5_000066"	"g.56118300delinsGAAG"	""	"{PMID:Hayashi 2006:16637847}"	""	"928delCinsGAAG"	"Compound heterozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000140740"	"2"	"75"	"12"	"56118300"	"56118300"	"delins"	"0"	"00234"	"RDH5_000070"	"g.56118300delinsGAAG"	""	"{PMID:Wang 2008:18363170}"	"MnlI-"	"928delCinsGAAG"	"Compound heterozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000140741"	"2"	"75"	"12"	"56118300"	"56118300"	"delins"	"0"	"00234"	"RDH5_000108"	"g.56118300delinsGAAG"	""	"{PMID:Nakamura 2000:11053295}, {PMID:Nakamura 2003:12906118}"	""	"nt 928 C to GAAG"	"Compound heterozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000140742"	"2"	"75"	"12"	"56118300"	"56118300"	"delins"	"0"	"00234"	"RDH5_000110"	"g.56118300delinsGAAG"	""	"{PMID:Sato 2004:15007239}"	""	"928delCinsGAAG"	"Compound heterozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000140743"	"2"	"75"	"12"	"56118300"	"56118300"	"delins"	"0"	"00234"	"RDH5_000112"	"g.56118300delinsGAAG"	""	"{PMID:Niwa 2005:15790919}"	""	"928 C?GAAG"	"Compound heterozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000140744"	"2"	"75"	"12"	"56118300"	"56118300"	"delins"	"0"	"00234"	"RDH5_000114"	"g.56118300delinsGAAG"	""	"{PMID:Niwa 2005:15790919}"	""	"928 C?GAAG"	"Compound heterozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000140745"	"2"	"75"	"12"	"56118300"	"56118300"	"delins"	"0"	"00234"	"RDH5_000116"	"g.56118300delinsGAAG"	""	"{PMID:Nakamura 2002:11812441}"	""	"C del at nt 928 with ins of GAAG"	"Compound heterozygous missense mutation"	"Unknown"	""	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000140746"	"2"	"75"	"12"	"56118300"	"56118300"	"delins"	"0"	"00234"	"RDH5_000118"	"g.56118300delinsGAAG"	""	"{PMID:Niwa 2005:15790919}"	""	"928 C?GAAG"	"Compound heterozygous missense mutation"	"Germline"	""	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000140747"	"3"	"75"	"12"	"56118300"	"56118300"	"delins"	"0"	"00234"	"RDH5_000125"	"g.56118300delinsGAAG"	""	"{PMID:Hirose 2000:11053296}"	""	"1085delC/insGAAG"	"Homozygous deletion/insertion mutation"	"Germline"	""	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000140748"	"3"	"75"	"12"	"56118300"	"56118300"	"delins"	"0"	"00234"	"RDH5_000127"	"g.56118300delinsGAAG"	""	"{PMID:Nakamura 2000:11053295}, {PMID:Nakamura 2003:12906118}"	""	"928 C to GAAG"	"Homozygous Base Change Mutation"	"Germline"	""	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000140749"	"3"	"75"	"12"	"56118300"	"56118300"	"delins"	"0"	"00234"	"RDH5_000129"	"g.56118300delinsGAAG"	""	"{PMID:Nakamura 2000:11053295}, {PMID:Nakamura 2003:12906118}"	""	"928 C to GAAG"	"Homozygous Base Change Mutation"	"Germline"	""	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000140750"	"3"	"75"	"12"	"56118300"	"56118300"	"delins"	"0"	"00234"	"RDH5_000131"	"g.56118300delinsGAAG"	""	"{PMID:Nakamura 2000:11053295}, {PMID:Nakamura 2003:12906118}"	""	"928 C to GAAG"	"Homozygous Base Change Mutation"	"Germline"	""	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000140751"	"3"	"75"	"12"	"56118300"	"56118300"	"delins"	"0"	"00234"	"RDH5_000133"	"g.56118300delinsGAAG"	""	"{PMID:Nakamura 2000:11053295}, {PMID:Nakamura 2003:12906118}"	""	"928 C to GAAG"	"Homozygous Base Change Mutation"	"Germline"	""	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000140752"	"3"	"75"	"12"	"56118300"	"56118300"	"delins"	"0"	"00234"	"RDH5_000135"	"g.56118300delinsGAAG"	""	"{PMID:Wada 2000:10845614}"	""	"1085delC/insGAAG"	"Homozygous Base Change Mutation"	"Germline"	""	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000140753"	"3"	"75"	"12"	"56118300"	"56118300"	"delins"	"0"	"00234"	"RDH5_000137"	"g.56118300delinsGAAG"	""	"{PMID:Wada 2000:10845614}"	""	"1085delC/insGAAG"	"Homozygous Base Change Mutation"	"Germline"	""	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000140754"	"3"	"75"	"12"	"56118300"	"56118300"	"delins"	"0"	"00234"	"RDH5_000139"	"g.56118300delinsGAAG"	""	"{PMID:Wada 2000:10845614}"	""	"1085delC/insGAAG"	"Homozygous Base Change Mutation"	"Germline"	""	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000140755"	"3"	"75"	"12"	"56118300"	"56118300"	"delins"	"0"	"00234"	"RDH5_000141"	"g.56118300delinsGAAG"	""	"{PMID:Wada 2000:10845614}"	""	"1085delC/insGAAG"	"Homozygous Base Change Mutation"	"Germline"	""	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000140756"	"3"	"75"	"12"	"56118300"	"56118300"	"delins"	"0"	"00234"	"RDH5_000143"	"g.56118300delinsGAAG"	""	"{PMID:Wada 2000:10845614}"	""	"1085delC/insGAAG"	"Homozygous Base Change Mutation"	"Germline"	""	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000140757"	"3"	"75"	"12"	"56118300"	"56118300"	"delins"	"0"	"00234"	"RDH5_000145"	"g.56118300delinsGAAG"	""	"{PMID:Wada 2000:10845614}"	""	"1085delC/insGAAG"	"Homozygous Base Change Mutation"	"Germline"	""	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000140758"	"3"	"75"	"12"	"56118300"	"56118300"	"delins"	"0"	"00234"	"RDH5_000147"	"g.56118300delinsGAAG"	""	"{PMID:Nakamura 2000:11053295}"	""	"928 C to GAAG"	"Homozygous Base Change Mutation"	"Germline"	""	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000140759"	"3"	"75"	"12"	"56118300"	"56118300"	"delins"	"0"	"00234"	"RDH5_000149"	"g.56118300delinsGAAG"	""	"{PMID:Nakamura 2000:11053295}"	""	"928 C to GAAG"	"Homozygous Base Change Mutation"	"Germline"	""	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000140760"	"3"	"75"	"12"	"56118300"	"56118300"	"delins"	"0"	"00234"	"RDH5_000151"	"g.56118300delinsGAAG"	""	"{PMID:Nakamura 2003:12906118}"	""	"928 C to GAAG"	"Homozygous Base Change Mutation"	"Germline"	""	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000140761"	"3"	"75"	"12"	"56118300"	"56118300"	"delins"	"0"	"00234"	"RDH5_000153"	"g.56118300delinsGAAG"	""	"{PMID:Nakamura 2003:12906118}"	""	"928 C to GAAG"	"Homozygous Base Change Mutation"	"Germline"	""	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000140762"	"3"	"75"	"12"	"56118300"	"56118300"	"delins"	"0"	"00234"	"RDH5_000155"	"g.56118300delinsGAAG"	""	"{PMID:Nakamura 2003:12906118}"	""	"928 C to GAAG"	"Homozygous Base Change Mutation"	"Germline"	""	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000140763"	"3"	"75"	"12"	"56118300"	"56118300"	"delins"	"0"	"00234"	"RDH5_000157"	"g.56118300delinsGAAG"	""	"{PMID:Nakamura 2003:12906118}"	""	"928 C to GAAG"	"Homozygous Base Change Mutation"	"Germline"	""	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000140764"	"3"	"75"	"12"	"56118300"	"56118300"	"delins"	"0"	"00234"	"RDH5_000159"	"g.56118300delinsGAAG"	""	"{PMID:Nakamura 2003:12906118}"	""	"928 C to GAAG"	"Homozygous Base Change Mutation"	"Germline"	""	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000140765"	"3"	"75"	"12"	"56118300"	"56118300"	"delins"	"0"	"00234"	"RDH5_000161"	"g.56118300delinsGAAG"	""	"{PMID:Nakamura 2003:12906118}"	""	"928 C to GAAG"	"Homozygous Base Change Mutation"	"Germline"	""	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000140766"	"3"	"75"	"12"	"56118300"	"56118300"	"delins"	"0"	"00234"	"RDH5_000163"	"g.56118300delinsGAAG"	""	"{PMID:Niwa 2005:15790919}"	""	"928 C to GAAG"	"Homozygous Base Change Mutation"	"Germline"	""	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000140767"	"2"	"75"	"12"	"56118327"	"56118327"	"subst"	"0"	"00234"	"RDH5_000056"	"g.56118327T>C"	""	"{PMID:Sergouniotis 2011:21529959}"	""	"956T>C"	"Compound heterozygous non-stop mutation"	"Germline"	""	""	"0"	""	""	"g.55724543T>C"	""	"likely pathogenic"	""
"0000158327"	"3"	"90"	"12"	"56118130"	"56118130"	"subst"	"7.71542E-5"	"01769"	"RDH5_000085"	"g.56118130T>G"	""	"{PMID:Li 2017:28418496}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.55724346T>G"	""	"pathogenic"	""
"0000162786"	"3"	"90"	"12"	"56118130"	"56118130"	"subst"	"7.71542E-5"	"01769"	"RDH5_000085"	"g.56118130T>G"	""	"{PMID:Li 2017:28418496}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.55724346T>G"	""	"pathogenic"	""
"0000162808"	"3"	"90"	"12"	"56115698"	"56115698"	"subst"	"3.29794E-5"	"01769"	"RDH5_000203"	"g.56115698A>G"	""	"{PMID:Li 2017:28418496}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.55721914A>G"	""	"pathogenic"	""
"0000247164"	"0"	"30"	"12"	"56115065"	"56115065"	"subst"	"0.00270851"	"02330"	"RDH5_000206"	"g.56115065A>G"	""	""	""	"RDH5(NM_001199771.3):c.97A>G (p.I33V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.55721281A>G"	""	"likely benign"	""
"0000254847"	"0"	"30"	"12"	"56115528"	"56115528"	"subst"	"0.000312225"	"01943"	"RDH5_000207"	"g.56115528A>G"	""	""	""	"RDH5(NM_001199771.1):c.366A>G (p.P122=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.55721744A>G"	""	"likely benign"	""
"0000285391"	"0"	"10"	"12"	"56105894"	"56105894"	"subst"	"0.00854718"	"02326"	"ITGA7_010023"	"g.56105894G>A"	""	""	""	"ITGA7(NM_001144996.1):c.-4428C>T (p.(=)), ITGA7(NM_001144997.1):c.38C>T (p.T13I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.55712110G>A"	""	"benign"	""
"0000294782"	"0"	"10"	"12"	"56115030"	"56115030"	"subst"	"8.95736E-5"	"02330"	"RDH5_000205"	"g.56115030G>A"	""	""	""	"RDH5(NM_001199771.3):c.62G>A (p.R21Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.55721246G>A"	""	"benign"	""
"0000306899"	"0"	"30"	"12"	"56114999"	"56114999"	"subst"	"5.70014E-5"	"01943"	"RDH5_000204"	"g.56114999C>T"	""	""	""	"RDH5(NM_001199771.1):c.31C>T (p.L11F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.55721215C>T"	""	"likely benign"	""
"0000306900"	"0"	"50"	"12"	"56115626"	"56115626"	"subst"	"6.13663E-5"	"01943"	"RDH5_000208"	"g.56115626G>A"	""	""	""	"RDH5(NM_001199771.1):c.464G>A (p.R155Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.55721842G>A"	""	"VUS"	""
"0000306901"	"0"	"30"	"12"	"56117700"	"56117700"	"subst"	"1.62561E-5"	"01943"	"RDH5_000209"	"g.56117700C>A"	""	""	""	"RDH5(NM_001199771.1):c.600C>A (p.V200=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.55723916C>A"	""	"likely benign"	""
"0000306902"	"0"	"30"	"12"	"56118124"	"56118124"	"subst"	"2.03044E-5"	"01943"	"RDH5_000210"	"g.56118124G>A"	""	""	""	"RDH5(NM_001199771.1):c.752G>A (p.R251H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.55724340G>A"	""	"likely benign"	""
"0000340244"	"0"	"10"	"12"	"56115585"	"56115585"	"subst"	"0.19137"	"02327"	"RDH5_000211"	"g.56115585C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.55721801C>T"	""	"benign"	""
"0000358324"	"3"	"90"	"12"	"56115035"	"56115038"	"del"	"0"	"01243"	"RDH5_000187"	"g.56115035_56115038del"	""	"Sharon, submitted"	""	""	"Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message."	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000358325"	"3"	"90"	"12"	"56115128"	"56115128"	"subst"	"3.67395E-5"	"01243"	"RDH5_000167"	"g.56115128C>T"	""	"Sharon, submitted"	""	""	""	"Germline"	""	""	"0"	""	""	"g.55721344C>T"	""	"pathogenic"	""
"0000358326"	"3"	"70"	"12"	"56115544"	"56115544"	"subst"	"8.19827E-6"	"01243"	"RDH5_000045"	"g.56115544G>A"	""	"Sharon, submitted"	""	""	""	"Germline"	""	""	"0"	""	""	"g.55721760G>A"	""	"likely pathogenic"	""
"0000358327"	"0"	"70"	"12"	"56115544"	"56115544"	"subst"	"8.19827E-6"	"01243"	"RDH5_000045"	"g.56115544G>A"	""	"Sharon, submitted"	""	""	""	"Germline"	""	""	"0"	""	""	"g.55721760G>A"	""	"likely pathogenic"	""
"0000358328"	"3"	"90"	"12"	"56115574"	"56115574"	"del"	"0"	"01243"	"RDH5_000212"	"g.56115574del"	""	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.55721790del"	""	"pathogenic (recessive)"	""
"0000358451"	"0"	"90"	"12"	"56115709"	"56115709"	"subst"	"0"	"01243"	"RDH5_000213"	"g.56115709G>T"	""	"Sharon, submitted"	""	""	""	"Germline"	""	""	"0"	""	""	"g.55721925G>T"	""	"pathogenic"	""
"0000548667"	"0"	"30"	"12"	"56105894"	"56105894"	"subst"	"0.00854718"	"01804"	"ITGA7_000017"	"g.56105894G>A"	""	""	""	"ITGA7(NM_001144996.1):c.-4428C>T (p.(=)), ITGA7(NM_001144997.1):c.38C>T (p.T13I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.55712110G>A"	""	"likely benign"	""
"0000548668"	"0"	"30"	"12"	"56105932"	"56105932"	"subst"	"0.0151783"	"01804"	"BLOC1S1_000012"	"g.56105932A>C"	""	""	""	"ITGA7(NM_001144997.1):c.14-14T>G (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.55712148A>C"	""	"likely benign"	""
"0000548669"	"0"	"10"	"12"	"56115687"	"56115687"	"subst"	"0.000267765"	"02330"	"BLOC1S1_000013"	"g.56115687C>T"	""	""	""	"RDH5(NM_001199771.1):c.525C>T (p.Y175=), RDH5(NM_001199771.3):c.525C>T (p.Y175=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.55721903C>T"	""	"benign"	""
"0000548670"	"0"	"10"	"12"	"56117652"	"56117652"	"subst"	"0.000803121"	"02330"	"BLOC1S1_000014"	"g.56117652G>A"	""	""	""	"RDH5(NM_001199771.3):c.570-18G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.55723868G>A"	""	"benign"	""
"0000548671"	"0"	"90"	"12"	"56117812"	"56117812"	"subst"	"0.000214612"	"01943"	"RDH5_000004"	"g.56117812G>T"	""	""	""	"RDH5(NM_001199771.1):c.712G>T (p.G238W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.55724028G>T"	""	"pathogenic"	""
"0000648617"	"1"	"50"	"12"	"56115065"	"56115065"	"subst"	"0.00270851"	"03575"	"RDH5_000206"	"g.56115065A>G"	"4/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"conflicting interpretations of pathogenicity; 4 heterozygous, no homozygous; {DB:CLININrs62638195}"	"Germline"	""	"rs62638195"	"0"	""	""	"g.55721281A>G"	""	"VUS"	""
"0000685399"	"0"	"90"	"12"	"56115039"	"56115042"	"del"	"0"	"00004"	"RDH5_000187"	"g.56115039_56115042del"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685400"	"0"	"90"	"12"	"56115128"	"56115128"	"subst"	"3.67395E-5"	"00004"	"RDH5_000167"	"g.56115128C>T"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685401"	"0"	"90"	"12"	"56115128"	"56115128"	"subst"	"3.67395E-5"	"00004"	"RDH5_000167"	"g.56115128C>T"	"11/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685402"	"0"	"90"	"12"	"56115128"	"56115128"	"subst"	"3.67395E-5"	"00004"	"RDH5_000167"	"g.56115128C>T"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685403"	"0"	"90"	"12"	"56115128"	"56115128"	"subst"	"3.67395E-5"	"00004"	"RDH5_000167"	"g.56115128C>T"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685404"	"0"	"90"	"12"	"56115210"	"56115213"	"del"	"0"	"00004"	"RDH5_000214"	"g.56115210_56115213del"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	"c.242_245del"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685405"	"0"	"90"	"12"	"56115544"	"56115544"	"subst"	"8.19827E-6"	"00004"	"RDH5_000045"	"g.56115544G>A"	"4/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685407"	"3"	"90"	"12"	"56115574"	"56115574"	"del"	"0"	"00004"	"RDH5_000212"	"g.56115574del"	"1/2420 IRD families"	"{PMID:Beryozkin 2015:26306921}, {PMID:Sharon 2019:31456290}"	""	"412delA"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	"ACMG"
"0000685408"	"0"	"90"	"12"	"56115709"	"56115709"	"subst"	"0"	"00004"	"RDH5_000213"	"g.56115709G>T"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685409"	"0"	"90"	"12"	"56117672"	"56117672"	"subst"	"2.85049E-5"	"00004"	"RDH5_000199"	"g.56117672G>A"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685410"	"0"	"90"	"12"	"56117672"	"56117672"	"subst"	"2.85049E-5"	"00004"	"RDH5_000199"	"g.56117672G>A"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685411"	"0"	"90"	"12"	"56117812"	"56117812"	"subst"	"0.000214612"	"00004"	"RDH5_000004"	"g.56117812G>T"	"4/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685412"	"0"	"90"	"12"	"56117818"	"56117818"	"dup"	"0"	"00004"	"RDH5_000081"	"g.56117818dup"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685413"	"0"	"70"	"12"	"56118252"	"56118252"	"subst"	"1.21961E-5"	"00004"	"RDH5_000104"	"g.56118252G>C"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000691389"	"0"	"50"	"12"	"56115021"	"56115021"	"subst"	"0"	"01943"	"BLOC1S1_000017"	"g.56115021T>C"	""	""	""	"RDH5(NM_001199771.1):c.53T>C (p.L18P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000710215"	"1"	"50"	"12"	"56118169"	"56118169"	"subst"	"1.21821E-5"	"00006"	"RDH5_000215"	"g.56118169G>A"	"1/143 cases"	"{PMID:Zenteno 2020:31736247}"	""	""	"ACMG PM2, PP4, BP4"	"Germline"	""	""	"0"	""	""	"g.55724385G>A"	""	"VUS"	"ACMG"
"0000710232"	"3"	"90"	"12"	"56118211"	"56118211"	"subst"	"8.52972E-5"	"00006"	"RDH5_000001"	"g.56118211G>A"	"1/143 cases"	"{PMID:Zenteno 2020:31736247}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.55724427G>A"	""	"pathogenic"	""
"0000710331"	"2"	"50"	"12"	"56118220"	"56118220"	"subst"	"0"	"00006"	"RDH5_000216"	"g.56118220C>G"	"1/143 cases"	"{PMID:Zenteno 2020:31736247}"	""	""	"ACMG PM2, PP3, PP4"	"Germline"	""	""	"0"	""	""	"g.55724436C>G"	""	"VUS"	"ACMG"
"0000730624"	"3"	"90"	"12"	"56115631"	"56115631"	"subst"	"4.09222E-5"	"00000"	"RDH5_000006"	"g.56115631C>T"	""	"{PMID:Birtel 2018:29555955}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.55721847C>T"	""	"pathogenic (recessive)"	""
"0000735166"	"3"	"70"	"12"	"56115698"	"56115698"	"subst"	"3.29794E-5"	"00000"	"RDH5_000203"	"g.56115698A>G"	""	"{PMID:Li 2017:28418496}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.55721914A>G"	""	"likely pathogenic"	""
"0000736157"	"3"	"70"	"12"	"56118300"	"56118300"	"delins"	"0"	"00006"	"RDH5_000018"	"g.56118300delinsGAAG"	""	"{PMID:Huang 2018:29641573}"	""	"928delCinsGAAG"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000760233"	"3"	"50"	"12"	"56115698"	"56115698"	"subst"	"3.29794E-5"	"00000"	"RDH5_000203"	"g.56115698A>G"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.55721914A>G"	""	"VUS"	""
"0000786418"	"3"	"90"	"12"	"56118211"	"56118211"	"subst"	"8.52972E-5"	"00000"	"RDH5_000001"	"g.56118211G>A"	""	"{PMID:Consugar 2015:25412400}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.55724427G>A"	""	"pathogenic (recessive)"	""
"0000791555"	"0"	"70"	"12"	"56117725"	"56117725"	"subst"	"4.0623E-5"	"00000"	"RDH5_000067"	"g.56117725C>T"	"1/258"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.55723941C>T"	""	"likely pathogenic"	""
"0000791566"	"0"	"70"	"12"	"56118148"	"56118148"	"subst"	"2.03039E-5"	"00000"	"RDH5_000217"	"g.56118148C>T"	"1/258"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.55724364C>T"	""	"likely pathogenic"	""
"0000793887"	"0"	"70"	"12"	"56115179"	"56115182"	"dup"	"0"	"00000"	"RDH5_000027"	"g.56115179_56115182dup"	""	"{PMID:Littink-2012:22559933}"	""	"c.211_214dupl, p.A72GfsX15; c.103G>A, p.G35S"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000793888"	"0"	"70"	"12"	"56115071"	"56115071"	"subst"	"2.03368E-5"	"00000"	"RDH5_000009"	"g.56115071G>A"	""	"{PMID:Littink-2012:22559933}"	""	"c.211_214dupl, p.A72GfsX15; c.103G>A, p.G35S"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000795952"	"3"	"90"	"12"	"56117725"	"56117725"	"subst"	"4.0623E-5"	"00000"	"RDH5_000067"	"g.56117725C>T"	""	"{PMID:Chen-2013:23462753}"	""	"c.625C>T(p.Arg209*)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796694"	"3"	"90"	"12"	"56117702"	"56117702"	"subst"	"4.06345E-6"	"00000"	"RDH5_000218"	"g.56117702C>T"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.602C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796909"	"3"	"90"	"12"	"56118211"	"56118211"	"subst"	"8.52972E-5"	"00000"	"RDH5_000001"	"g.56118211G>A"	""	"{PMID:Wang-2014:24154662}"	""	"c.839G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000798063"	"0"	"70"	"12"	"56115176"	"56115176"	"subst"	"7.33801E-5"	"00000"	"RDH5_000219"	"g.56115176C>T"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"RDH5 c.208C>T, p.(Arg70Trp)"	"single heterozygous variant (recessive)"	"Germline"	"?"	""	"0"	""	""	"g.55721392C>T"	""	"likely pathogenic"	"ACMG"
"0000798411"	"3"	"10"	"12"	"56115585"	"56115585"	"subst"	"0"	"00000"	"RDH5_000220"	"g.56115585C>A"	""	"{PMID:Fishman-2004:14718298}"	""	"(Ile141Ile, ATC?ATA, 423C?A)"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000805846"	"0"	"10"	"12"	"56117662"	"56117662"	"subst"	"0.00168529"	"02330"	"BLOC1S1_000022"	"g.56117662G>C"	""	""	""	"RDH5(NM_002905.5):c.570-8G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000805847"	"0"	"50"	"12"	"56118322"	"56118322"	"subst"	"0"	"01943"	"BLOC1S1_000023"	"g.56118322T>C"	""	""	""	"RDH5(NM_001199771.1):c.950T>C (p.V317A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000812231"	"3"	"70"	"12"	"56118211"	"56118211"	"subst"	"8.52972E-5"	"00000"	"RDH5_000001"	"g.56118211G>A"	""	"{PMID:Martin Merida 2019:30902645}"	""	"RDH5 Ex.5 c.839G>A p.(Arg280His), Ex.5 c.839G>A p.(Arg280His)"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.55724427G>A"	""	"likely pathogenic"	""
"0000812255"	"0"	"70"	"12"	"56117812"	"56117812"	"subst"	"0.000214612"	"00000"	"RDH5_000004"	"g.56117812G>T"	""	"{PMID:Martin Merida 2019:30902645}"	""	"RDH5 Ex.4 c.712G>T  p.(Gly238Trp), Ex.4 c.572G>A  p.(Arg191Gln)"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55724028G>T"	""	"likely pathogenic"	""
"0000812256"	"0"	"70"	"12"	"56117672"	"56117672"	"subst"	"2.85049E-5"	"00000"	"RDH5_000199"	"g.56117672G>A"	""	"{PMID:Martin Merida 2019:30902645}"	""	"RDH5 Ex.4 c.712G>T  p.(Gly238Trp), Ex.4 c.572G>A  p.(Arg191Gln)"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55723888G>A"	""	"likely pathogenic"	""
"0000815088"	"3"	"90"	"12"	"56115698"	"56115698"	"subst"	"3.29794E-5"	"00000"	"RDH5_000203"	"g.56115698A>G"	"0/95 unrelated Pakistani controls"	"{PMID:Maranhao 2014:24603341}"	""	"c.536A>G"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000815347"	"3"	"90"	"12"	"56117725"	"56117725"	"subst"	"4.0623E-5"	"00000"	"RDH5_000067"	"g.56117725C>T"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"RDH5:NM_002905 c.C625T, p.R209X"	"homozygous, individual solved, variant causal"	"Germline"	"yes"	""	"0"	""	""	"g.55723941C>T"	""	"pathogenic"	"ACMG"
"0000815433"	"0"	"50"	"12"	"56115229"	"56115229"	"subst"	"0"	"00000"	"RDH5_000221"	"g.56115229G>C"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"RDH5:NM_002905 c.G261C, p.Q87H"	"heterozygous, individual solved, variant non-causal"	"Germline"	"?"	""	"0"	""	""	"g.55721445G>C"	""	"VUS"	"ACMG"
"0000815479"	"0"	"50"	"12"	"56117672"	"56117672"	"subst"	"2.85049E-5"	"00000"	"RDH5_000199"	"g.56117672G>A"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"RDH5:NM_002905 c.G572A, p.R191Q"	"heterozygous, individual solved, variant non-causal"	"Germline"	"?"	""	"0"	""	""	"g.55723888G>A"	""	"VUS"	"ACMG"
"0000815491"	"0"	"70"	"12"	"56118211"	"56118211"	"subst"	"8.52972E-5"	"00000"	"RDH5_000001"	"g.56118211G>A"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"RDH5:NM_002905 c.G839A, p.R280H"	"heterozygous, individual solved, variant non-causal"	"Germline"	"?"	""	"0"	""	""	"g.55724427G>A"	""	"likely pathogenic"	"ACMG"
"0000817627"	"0"	"70"	"12"	"56117812"	"56117812"	"subst"	"0.000214612"	"00000"	"RDH5_000004"	"g.56117812G>T"	""	"{PMID:Zanolli 2020:32141364}"	""	"RDH5 c.712G>T"	"no protein change given, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.55724028G>T"	""	"likely pathogenic"	""
"0000819680"	"1"	"70"	"12"	"56117672"	"56117672"	"subst"	"2.85049E-5"	"00000"	"RDH5_000199"	"g.56117672G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"RDH5, variant 1: c.572G>A/p.R191Q, variant 2: c.572G>A/p.R191Q"	"solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.55723888G>A"	""	"likely pathogenic"	""
"0000819941"	"1"	"70"	"12"	"56117812"	"56117812"	"subst"	"0.000214612"	"00000"	"RDH5_000004"	"g.56117812G>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"RDH5, variant 1: c.712G>T/p.G238W, variant 2: c.712G>T/p.G238W"	"solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.55724028G>T"	""	"likely pathogenic"	""
"0000821009"	"0"	"70"	"12"	"56118262"	"56118262"	"subst"	"4.06557E-6"	"00000"	"RDH5_000222"	"g.56118262T>C"	"1/64"	"{PMID:Liu 2020:32562694}"	""	"RDH5 c.890T>C, p.Leu297Pro"	"heterozygous"	"Germline/De novo (untested)"	"?"	"rs745993927"	"0"	""	""	"g.55724478T>C"	""	"likely pathogenic"	""
"0000822738"	"3"	"70"	"12"	"56115631"	"56115631"	"subst"	"4.09222E-5"	"00000"	"RDH5_000006"	"g.56115631C>T"	""	"{PMID:Gliem 2020:32646556}"	""	"RDH5 c.469C>T, p.Arg157Trp"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.55721847C>T"	""	"likely pathogenic"	""
"0000822739"	"3"	"70"	"12"	"56115631"	"56115631"	"subst"	"4.09222E-5"	"00000"	"RDH5_000006"	"g.56115631C>T"	""	"{PMID:Gliem 2020:32646556}"	""	"RDH5 c.469C>T, p.Arg157Trp"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.55721847C>T"	""	"likely pathogenic"	""
"0000826198"	"0"	"70"	"12"	"56117810"	"56117810"	"subst"	"1.23324E-5"	"00000"	"RDH5_000223"	"g.56117810A>G"	""	"{PMID:Liu-2020:33090715}"	""	"c.710A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000826199"	"0"	"70"	"12"	"56118300"	"56118300"	"delins"	"0"	"00000"	"RDH5_000018"	"g.56118300delinsGAAG"	""	"{PMID:Liu-2020:33090715}"	""	"c.928delCinsGAAG"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000863069"	"0"	"30"	"12"	"56115687"	"56115687"	"subst"	"0.000267765"	"01943"	"BLOC1S1_000013"	"g.56115687C>T"	""	""	""	"RDH5(NM_001199771.1):c.525C>T (p.Y175=), RDH5(NM_001199771.3):c.525C>T (p.Y175=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000863070"	"0"	"50"	"12"	"56115707"	"56115707"	"subst"	"0"	"02330"	"BLOC1S1_000031"	"g.56115707T>C"	""	""	""	"RDH5(NM_002905.5):c.545T>C (p.L182P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000872942"	"3"	"70"	"12"	"56115631"	"56115631"	"subst"	"4.09222E-5"	"00000"	"RDH5_000006"	"g.56115631C>T"	""	"{PMID:Cideciyan 2000:11153648}"	""	"RDH5 Arg157Trp"	"no nucleotide annotation, extrapolated from protein and databases; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55721847C>T"	""	"likely pathogenic (recessive)"	""
"0000872948"	"3"	"70"	"12"	"56115071"	"56115071"	"subst"	"2.03368E-5"	"00000"	"RDH5_000009"	"g.56115071G>A"	""	"{PMID:Liden 2001:11675386}"	""	"RDH5 G35S"	"expresion levels (% wild type): 11; in vivo activity (% wild type): 1.7; in vitro activity: not determined; expected consequences and localisation of mutations: G35 is located in a loop; no nucleotide annotation, extrapolated from protein"	"In vitro (cloned)"	"?"	""	"0"	""	""	"g.55721287G>A"	""	"likely pathogenic (recessive)"	""
"0000872949"	"3"	"70"	"12"	"56115186"	"56115186"	"subst"	"4.07398E-6"	"00000"	"RDH5_000029"	"g.56115186C>T"	""	"{PMID:Liden 2001:11675386}"	""	"RDH5 S73F"	"expresion levels (% wild type): <1; in vivo activity (% wild type): 4; in vitro activity: non-active; expected consequences and localisation of mutations: S73 is located at the surface; no nucleotide annotation, extrapolated from protein"	"In vitro (cloned)"	"?"	""	"0"	""	""	"g.55721402C>T"	""	"likely pathogenic (recessive)"	""
"0000872950"	"3"	"70"	"12"	"56115475"	"56115475"	"subst"	"4.16292E-6"	"00000"	"RDH5_000225"	"g.56115475C>A"	""	"{PMID:Liden 2001:11675386}"	""	"RDH5 L105I"	"expresion levels (% wild type): 20; in vivo activity (% wild type): 1; in vitro activity: not determined; expected consequences and localisation of mutations: L105 is located in an internal -sheet; no nucleotide annotation, extrapolated from protein"	"In vitro (cloned)"	"?"	""	"0"	""	""	"g.55721691C>A"	""	"likely pathogenic (recessive)"	""
"0000872951"	"3"	"70"	"12"	"56115544"	"56115544"	"subst"	"8.19827E-6"	"00000"	"RDH5_000045"	"g.56115544G>A"	""	"{PMID:Liden 2001:11675386}"	""	"RDH5 D128N"	"expresion levels (% wild type): <1; in vivo activity (% wild type): <1; in vitro activity: not determined; expected consequences and localisation of mutations: D128 is located in a surface-exposed alpha-helix; no nucleotide annotation, extrapolated from protein"	"In vitro (cloned)"	"?"	""	"0"	""	""	"g.55721760G>A"	""	"likely pathogenic (recessive)"	""
"0000872952"	"3"	"70"	"12"	"56115631"	"56115631"	"subst"	"4.09222E-5"	"00000"	"RDH5_000006"	"g.56115631C>T"	""	"{PMID:Liden 2001:11675386}"	""	"RDH5 R157W"	"expresion levels (% wild type): 5; in vivo activity (% wild type): <1; in vitro activity: not determined; expected consequences and localisation of mutations: R157 forms H-bondse to L272 and A274. W157 cannot form these H-bonds; no nucleotide annotation, extrapolated from protein"	"In vitro (cloned)"	"?"	""	"0"	""	""	"g.55721847C>T"	""	"likely pathogenic (recessive)"	""
"0000872953"	"3"	"70"	"12"	"0"	"0"	""	"0"	"00000"	"ALX1_000001"	"g.?"	""	"{PMID:Liden 2001:11675386}"	""	"RDH5 V212(4bp del)"	"expresion levels (% wild type): 6; in vivo activity (% wild type): <1; in vitro activity: not determined; expected consequences and localisation of mutations: Frame shift, premature stop at position 246; no nucleotide annotation, extrapolated from protein"	"In vitro (cloned)"	"?"	""	"0"	""	""	"g.?"	""	"likely pathogenic (recessive)"	""
"0000872954"	"3"	"70"	"12"	"56117812"	"56117812"	"subst"	"0.000214612"	"00000"	"RDH5_000004"	"g.56117812G>T"	""	"{PMID:Liden 2001:11675386}"	""	"RDH5 G238W"	"expresion levels (% wild type): 2; in vivo activity (% wild type): <1; in vitro activity: non-active; expected consequences and localisation of mutations: W238 is bulky and located at the subunit interface and may affect subunit interactions; no nucleotide annotation, extrapolated from protein"	"In vitro (cloned)"	"?"	""	"0"	""	""	"g.55724028G>T"	""	"likely pathogenic (recessive)"	""
"0000872955"	"3"	"70"	"12"	"56118163"	"56118163"	"subst"	"0"	"00000"	"RDH5_000095"	"g.56118163T>G"	""	"{PMID:Liden 2001:11675386}"	""	"RDH5 V264G"	"expresion levels (% wild type): 7; in vivo activity (% wild type): <1; in vitro activity: not determined; expected consequences and localisation of mutations: G is less hydrophobic and may affect alpha-helix formation; no nucleotide annotation, extrapolated from protein"	"In vitro (cloned)"	"?"	""	"0"	""	""	"g.55724379T>G"	""	"likely pathogenic (recessive)"	""
"0000872956"	"3"	"70"	"12"	"56118211"	"56118211"	"subst"	"8.52972E-5"	"00000"	"RDH5_000001"	"g.56118211G>A"	""	"{PMID:Liden 2001:11675386}"	""	"RDH5 R280H"	"expresion levels (% wild type): 2; in vivo activity (% wild type): <1; in vitro activity: non-active; expected consequences and localisation of mutations: R is highly conserved in SDRs and forms H-bonds to E183 and D187 in the active site alpha-helix; no nucleotide annotation, extrapolated from protein"	"In vitro (cloned)"	"?"	""	"0"	""	""	"g.55724427G>A"	""	"likely pathogenic (recessive)"	""
"0000872957"	"3"	"70"	"12"	"56118252"	"56118252"	"subst"	"1.21961E-5"	"00000"	"RDH5_000104"	"g.56118252G>C"	""	"{PMID:Liden 2001:11675386}"	""	"RDH5 A294P"	"expresion levels (% wild type): 22; in vivo activity (% wild type): 52; in vitro activity: active; expected consequences and localisation of mutations: Located in TMf region; no nucleotide annotation, extrapolated from protein"	"In vitro (cloned)"	"?"	""	"0"	""	""	"g.55724468G>C"	""	"likely pathogenic (recessive)"	""
"0000872958"	"3"	"70"	"12"	"56118300"	"56118300"	"delins"	"0"	"00000"	"RDH5_000018"	"g.56118300delinsGAAG"	""	"{PMID:Liden 2001:11675386}"	""	"RDH5 L310EV"	"expresion levels (% wild type): 10; in vivo activity (% wild type): 1.7; in vitro activity: non-active; expected consequences and localisation of mutations: Located in TM region; no nucleotide annotation, extrapolated from protein"	"In vitro (cloned)"	"?"	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic (recessive)"	""
"0000872969"	"3"	"70"	"12"	"56117702"	"56117702"	"subst"	"4.06345E-6"	"00000"	"RDH5_000218"	"g.56117702C>T"	"0/200 ethnically-matched control samples"	"{PMID:Sultan 2018:29892959}"	""	"RDH5 c.602C > T (p.Ser201P"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55723918C>T"	""	"likely pathogenic (recessive)"	""
"0000872970"	"3"	"70"	"12"	"56117702"	"56117702"	"subst"	"4.06345E-6"	"00000"	"RDH5_000218"	"g.56117702C>T"	"0/200 ethnically-matched control samples"	"{PMID:Sultan 2018:29892959}"	""	"RDH5 c.602C > T (p.Ser201P"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55723918C>T"	""	"likely pathogenic (recessive)"	""
"0000872971"	"1"	"70"	"12"	"56118300"	"56118300"	"delins"	"0"	"00000"	"RDH5_000018"	"g.56118300delinsGAAG"	""	"{PMID:Sekiya 2003:12860821}"	""	"RDH5 928C to GAAG (Leu310 to GluVal)"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic (recessive)"	""
"0000872972"	"2"	"70"	"12"	"56115662"	"56115662"	"subst"	"4.93746E-5"	"00000"	"RDH5_000226"	"g.56115662G>A"	""	"{PMID:Sekiya 2003:12860821}"	""	"RDH5 Arg167His (CAC to CGC)"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55721878G>A"	""	"likely pathogenic (recessive)"	""
"0000873001"	"3"	"70"	"12"	"56118285"	"56118289"	"del"	"0"	"00000"	"RDH5_000121"	"g.56118285_56118289del"	""	"{PMID:Ajmal 2012:22736946}"	""	"RDH5 c.913_917delGTGCT (p.Val305Hisfs*29)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55724501_55724505del"	""	"likely pathogenic (recessive)"	""
"0000873002"	"3"	"70"	"12"	"56118285"	"56118289"	"del"	"0"	"00000"	"RDH5_000121"	"g.56118285_56118289del"	""	"{PMID:Ajmal 2012:22736946}"	""	"RDH5 c.913_917delGTGCT (p.Val305Hisfs*29)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55724501_55724505del"	""	"likely pathogenic (recessive)"	""
"0000873003"	"3"	"70"	"12"	"56118130"	"56118130"	"subst"	"7.71542E-5"	"00000"	"RDH5_000085"	"g.56118130T>G"	""	"{PMID:Ajmal 2012:22736946}"	""	"RDH5 c.758T>G (p.Met253Arg)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55724346T>G"	""	"likely pathogenic (recessive)"	""
"0000873004"	"3"	"70"	"12"	"56118130"	"56118130"	"subst"	"7.71542E-5"	"00000"	"RDH5_000085"	"g.56118130T>G"	""	"{PMID:Ajmal 2012:22736946}"	""	"RDH5 c.758T>G (p.Met253Arg)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55724346T>G"	""	"likely pathogenic (recessive)"	""
"0000873005"	"3"	"70"	"12"	"56118130"	"56118130"	"subst"	"7.71542E-5"	"00000"	"RDH5_000085"	"g.56118130T>G"	""	"{PMID:Ajmal 2012:22736946}"	""	"RDH5 c.758T>G (p.Met253Arg)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55724346T>G"	""	"likely pathogenic (recessive)"	""
"0000873006"	"3"	"70"	"12"	"56118130"	"56118130"	"subst"	"7.71542E-5"	"00000"	"RDH5_000085"	"g.56118130T>G"	""	"{PMID:Ajmal 2012:22736946}"	""	"RDH5 c.758T>G (p.Met253Arg)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55724346T>G"	""	"likely pathogenic (recessive)"	""
"0000873007"	"3"	"70"	"12"	"56118130"	"56118130"	"subst"	"7.71542E-5"	"00000"	"RDH5_000085"	"g.56118130T>G"	""	"{PMID:Ajmal 2012:22736946}"	""	"RDH5 c.758T>G (p.Met253Arg)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55724346T>G"	""	"likely pathogenic (recessive)"	""
"0000873010"	"3"	"70"	"12"	"56117818"	"56117818"	"del"	"0"	"00000"	"RDH5_000227"	"g.56117818del"	""	"{PMID:Makiyama 2014:24246574}"	""	"RDH5 c.718delG (p.A240Pfs*7)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55724034del"	""	"likely pathogenic (recessive)"	""
"0000873011"	"3"	"70"	"12"	"56118300"	"56118300"	"delins"	"0"	"00000"	"RDH5_000018"	"g.56118300delinsGAAG"	""	"{PMID:Makiyama 2014:24246574}"	""	"RDH5 c.928delCinsGAAG (p.L310-0311delinsEVQ)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic (recessive)"	""
"0000873012"	"3"	"70"	"12"	"56118300"	"56118300"	"delins"	"0"	"00000"	"RDH5_000018"	"g.56118300delinsGAAG"	""	"{PMID:Makiyama 2014:24246574}"	""	"RDH5 c.928delCinsGAAG (p.L310-0311delinsEVQ)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic (recessive)"	""
"0000873013"	"3"	"70"	"12"	"56118300"	"56118300"	"delins"	"0"	"00000"	"RDH5_000018"	"g.56118300delinsGAAG"	""	"{PMID:Makiyama 2014:24246574}"	""	"RDH5 c.928delCinsGAAG (p.L310-0311delinsEVQ)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic (recessive)"	""
"0000873014"	"3"	"70"	"12"	"56118300"	"56118300"	"delins"	"0"	"00000"	"RDH5_000018"	"g.56118300delinsGAAG"	""	"{PMID:Makiyama 2014:24246574}"	""	"RDH5 c.928delCinsGAAG (p.L310-0311delinsEVQ)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic (recessive)"	""
"0000873016"	"1"	"70"	"12"	"56115662"	"56115662"	"subst"	"4.93746E-5"	"00000"	"RDH5_000226"	"g.56115662G>A"	""	"{PMID:Liu 2015:25170858}"	""	"RDH5 c.500G>A p.Arg167His"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55721878G>A"	""	"likely pathogenic (recessive)"	""
"0000873017"	"3"	"70"	"12"	"56118300"	"56118300"	"delins"	"0"	"00000"	"RDH5_000018"	"g.56118300delinsGAAG"	""	"{PMID:Liu 2015:25170858}"	""	"RDH5 c.928delC/InsGAAG p.Leu310GluVal"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic (recessive)"	""
"0000873018"	"3"	"70"	"12"	"56118300"	"56118300"	"delins"	"0"	"00000"	"RDH5_000018"	"g.56118300delinsGAAG"	""	"{PMID:Liu 2015:25170858}"	""	"RDH5 c.928delC/InsGAAG p.Leu310GluVal"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic (recessive)"	""
"0000873019"	"1"	"70"	"12"	"56118204"	"56118204"	"subst"	"2.84287E-5"	"00000"	"RDH5_000228"	"g.56118204C>T"	""	"{PMID:Liu 2015:25170858}"	""	"RDH5 c.832C>T p.Arg278Ter"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55724420C>T"	""	"likely pathogenic (recessive)"	""
"0000873020"	"2"	"70"	"12"	"56118300"	"56118300"	"delins"	"0"	"00000"	"RDH5_000018"	"g.56118300delinsGAAG"	""	"{PMID:Liu 2015:25170858}"	""	"RDH5 c.928delC/InsGAAG p.Leu310GluVal"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic (recessive)"	""
"0000873021"	"2"	"70"	"12"	"56118300"	"56118300"	"delins"	"0"	"00000"	"RDH5_000018"	"g.56118300delinsGAAG"	""	"{PMID:Liu 2015:25170858}"	""	"RDH5 c.928delC/InsGAAG p.Leu310GluVal"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic (recessive)"	""
"0000873023"	"3"	"70"	"12"	"56115686"	"56115686"	"subst"	"4.11875E-6"	"00000"	"RDH5_000224"	"g.56115686A>T"	""	"{PMID:Skorczyk-Werner 2015:25820994}"	""	"RDH5 c.524A>T (p.Tyr175Phe)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000873056"	"3"	"70"	"12"	"56118300"	"56118300"	"delins"	"0"	"00000"	"RDH5_000018"	"g.56118300delinsGAAG"	""	"{PMID:Yang 2017:28393863}"	""	"RDH5 c.928delCinsGAAG (Leu310 to GluVal)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic (recessive)"	""
"0000873057"	"1"	"70"	"12"	"56115662"	"56115662"	"subst"	"4.93746E-5"	"00000"	"RDH5_000226"	"g.56115662G>A"	""	"{PMID:Yang 2017:28393863}"	""	"RDH5 c.500G>A p.(Arg167His)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55721878G>A"	""	"likely pathogenic (recessive)"	""
"0000873058"	"1"	"70"	"12"	"56115662"	"56115662"	"subst"	"4.93746E-5"	"00000"	"RDH5_000226"	"g.56115662G>A"	""	"{PMID:Yang 2017:28393863}"	""	"RDH5 c.500G>A p.(Arg167His)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55721878G>A"	""	"likely pathogenic (recessive)"	""
"0000873060"	"2"	"70"	"12"	"56117818"	"56117818"	"dup"	"0"	"00000"	"RDH5_000081"	"g.56117818dup"	""	"{PMID:Yang 2017:28393863}"	""	"RDH5 c.719ins G (p.Ala240Glyfs17)"	"error in annotation: this variant is actually c.718dup; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55724034dup"	""	"likely pathogenic (recessive)"	""
"0000873061"	"2"	"70"	"12"	"56118300"	"56118300"	"delins"	"0"	"00000"	"RDH5_000018"	"g.56118300delinsGAAG"	""	"{PMID:Yang 2017:28393863}"	""	"RDH5 c.928delCinsGAAG (Leu310 to GluVal)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic (recessive)"	""
"0000900719"	"3"	"70"	"12"	"56114303"	"56114303"	"dup"	"0"	"00000"	"RDH5_000229"	"g.56114303dup"	""	"{PMID:Khan 2020:31933420}"	""	"RDH5 c.-33 + 2dup"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55720519dup"	""	"likely pathogenic"	""
"0000900720"	"3"	"70"	"12"	"56114303"	"56114303"	"dup"	"0"	"00000"	"RDH5_000229"	"g.56114303dup"	""	"{PMID:Khan 2020:31933420}"	""	"RDH5 c.-33 + 2dup"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55720519dup"	""	"likely pathogenic"	""
"0000900721"	"3"	"70"	"12"	"56114303"	"56114303"	"dup"	"0"	"00000"	"RDH5_000229"	"g.56114303dup"	""	"{PMID:Khan 2020:31933420}"	""	"RDH5 c.-33 + 2dup"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55720519dup"	""	"likely pathogenic"	""
"0000900722"	"3"	"70"	"12"	"56114303"	"56114303"	"dup"	"0"	"00000"	"RDH5_000229"	"g.56114303dup"	""	"{PMID:Khan 2020:31933420}"	""	"RDH5 c.-33 + 2dup"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55720519dup"	""	"likely pathogenic"	""
"0000900723"	"3"	"70"	"12"	"56114303"	"56114303"	"dup"	"0"	"00000"	"RDH5_000229"	"g.56114303dup"	""	"{PMID:Khan 2020:31933420}"	""	"RDH5 c.-33 + 2dup"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55720519dup"	""	"likely pathogenic"	""
"0000900724"	"3"	"70"	"12"	"56114303"	"56114303"	"dup"	"0"	"00000"	"RDH5_000229"	"g.56114303dup"	""	"{PMID:Khan 2020:31933420}"	""	"RDH5 c.-33 + 2dup"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55720519dup"	""	"likely pathogenic"	""
"0000900725"	"3"	"70"	"12"	"56114303"	"56114303"	"dup"	"0"	"00000"	"RDH5_000229"	"g.56114303dup"	""	"{PMID:Khan 2020:31933420}"	""	"RDH5 c.-33 + 2dup"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55720519dup"	""	"likely pathogenic"	""
"0000900726"	"3"	"70"	"12"	"56114303"	"56114303"	"dup"	"0"	"00000"	"RDH5_000229"	"g.56114303dup"	""	"{PMID:Khan 2020:31933420}"	""	"RDH5 c.-33 + 2dup"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55720519dup"	""	"likely pathogenic"	""
"0000902030"	"1"	"70"	"12"	"56118300"	"56118300"	"delins"	"0"	"00000"	"RDH5_000018"	"g.56118300delinsGAAG"	""	"{PMID:Katagiri 2020:32232344}"	""	"RDH5 c.928delCinsGAAG, p.L310delinsEV"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000902031"	"1"	"70"	"12"	"56118300"	"56118300"	"delins"	"0"	"00000"	"RDH5_000018"	"g.56118300delinsGAAG"	""	"{PMID:Katagiri 2020:32232344}"	""	"RDH5 c.928delCinsGAAG, p.L310delinsEV"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000902032"	"1"	"70"	"12"	"56115662"	"56115662"	"subst"	"4.93746E-5"	"00000"	"RDH5_000226"	"g.56115662G>A"	""	"{PMID:Katagiri 2020:32232344}"	""	"RDH5 c.500G>A, p.R167H"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55721878G>A"	""	"likely pathogenic"	""
"0000902033"	"1"	"70"	"12"	"56115662"	"56115662"	"subst"	"4.93746E-5"	"00000"	"RDH5_000226"	"g.56115662G>A"	""	"{PMID:Katagiri 2020:32232344}"	""	"RDH5 c.500G>A, p.R167H"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55721878G>A"	""	"likely pathogenic"	""
"0000902034"	"1"	"70"	"12"	"56115071"	"56115071"	"subst"	"2.03368E-5"	"00000"	"RDH5_000009"	"g.56115071G>A"	""	"{PMID:Katagiri 2020:32232344}"	""	"RDH5 c.103G>A, p.G35S"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.55721287G>A"	""	"likely pathogenic"	""
"0000902035"	"3"	"70"	"12"	"56118300"	"56118300"	"delins"	"0"	"00000"	"RDH5_000018"	"g.56118300delinsGAAG"	""	"{PMID:Katagiri 2020:32232344}"	""	"RDH5 c.928delCinsGAAG, p.L310delinsEV"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000902036"	"3"	"70"	"12"	"56118300"	"56118300"	"delins"	"0"	"00000"	"RDH5_000018"	"g.56118300delinsGAAG"	""	"{PMID:Katagiri 2020:32232344}"	""	"RDH5 c.928delCinsGAAG, p.L310delinsEV"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000902037"	"3"	"70"	"12"	"56118300"	"56118300"	"delins"	"0"	"00000"	"RDH5_000018"	"g.56118300delinsGAAG"	""	"{PMID:Katagiri 2020:32232344}"	""	"RDH5 c.928delCinsGAAG, p.L310delinsEV"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000902038"	"3"	"70"	"12"	"56118300"	"56118300"	"delins"	"0"	"00000"	"RDH5_000018"	"g.56118300delinsGAAG"	""	"{PMID:Katagiri 2020:32232344}"	""	"RDH5 c.928delCinsGAAG, p.L310delinsEV"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000902039"	"3"	"70"	"12"	"56118300"	"56118300"	"delins"	"0"	"00000"	"RDH5_000018"	"g.56118300delinsGAAG"	""	"{PMID:Katagiri 2020:32232344}"	""	"RDH5 c.928delCinsGAAG, p.L310delinsEV"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000902040"	"3"	"70"	"12"	"56118300"	"56118300"	"delins"	"0"	"00000"	"RDH5_000018"	"g.56118300delinsGAAG"	""	"{PMID:Katagiri 2020:32232344}"	""	"RDH5 c.928delCinsGAAG, p.L310delinsEV"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000902041"	"3"	"70"	"12"	"56115227"	"56115227"	"subst"	"0"	"00000"	"RDH5_000230"	"g.56115227C>T"	""	"{PMID:Katagiri 2020:32232344}"	""	"RDH5 c.259C>T, p.Q87X"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55721443C>T"	""	"likely pathogenic"	""
"0000902042"	"1"	"70"	"12"	"56115481"	"56115481"	"subst"	"0"	"00000"	"RDH5_000033"	"g.56115481G>C"	""	"{PMID:Katagiri 2020:32232344}"	""	"RDH5 c.319G>C, p.G107R"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.55721697G>C"	""	"likely pathogenic"	""
"0000902043"	"1"	"70"	"12"	"56115662"	"56115662"	"subst"	"4.93746E-5"	"00000"	"RDH5_000226"	"g.56115662G>A"	""	"{PMID:Katagiri 2020:32232344}"	""	"RDH5 c.500G>A,  p.R167H"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55721878G>A"	""	"likely pathogenic"	""
"0000902044"	"1"	"70"	"12"	"56118300"	"56118300"	"delins"	"0"	"00000"	"RDH5_000018"	"g.56118300delinsGAAG"	""	"{PMID:Katagiri 2020:32232344}"	""	"RDH5 c.928delCinsGAAG, p.L310delinsEV"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000902045"	"3"	"70"	"12"	"56118300"	"56118300"	"delins"	"0"	"00000"	"RDH5_000018"	"g.56118300delinsGAAG"	""	"{PMID:Katagiri 2020:32232344}"	""	"RDH5 c.928delCinsGAAG, p.L310delinsEV"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000902046"	"1"	"70"	"12"	"56118300"	"56118300"	"delins"	"0"	"00000"	"RDH5_000018"	"g.56118300delinsGAAG"	""	"{PMID:Katagiri 2020:32232344}"	""	"RDH5 c.928delCinsGAAG, p.L310delinsEV"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000902047"	"1"	"70"	"12"	"56118300"	"56118300"	"delins"	"0"	"00000"	"RDH5_000018"	"g.56118300delinsGAAG"	""	"{PMID:Katagiri 2020:32232344}"	""	"RDH5 c.928delCinsGAAG, p.L310delinsEV"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000902048"	"1"	"70"	"12"	"56118300"	"56118300"	"delins"	"0"	"00000"	"RDH5_000018"	"g.56118300delinsGAAG"	""	"{PMID:Katagiri 2020:32232344}"	""	"RDH5 c.928delCinsGAAG, p.L310delinsEV"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000902049"	"3"	"70"	"12"	"56118300"	"56118300"	"delins"	"0"	"00000"	"RDH5_000018"	"g.56118300delinsGAAG"	""	"{PMID:Katagiri 2020:32232344}"	""	"RDH5 c.928delCinsGAAG, p.L310delinsEV"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000902050"	"3"	"70"	"12"	"56118300"	"56118300"	"delins"	"0"	"00000"	"RDH5_000018"	"g.56118300delinsGAAG"	""	"{PMID:Katagiri 2020:32232344}"	""	"RDH5 c.928delCinsGAAG, p.L310delinsEV"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000902051"	"1"	"70"	"12"	"56118300"	"56118300"	"delins"	"0"	"00000"	"RDH5_000018"	"g.56118300delinsGAAG"	""	"{PMID:Katagiri 2020:32232344}"	""	"RDH5 c.928delCinsGAAG, p.L310delinsEV"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000902052"	"3"	"70"	"12"	"56118300"	"56118300"	"delins"	"0"	"00000"	"RDH5_000018"	"g.56118300delinsGAAG"	""	"{PMID:Katagiri 2020:32232344}"	""	"RDH5 c.928delCinsGAAG, p.L310delinsEV"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000902053"	"3"	"70"	"12"	"56118300"	"56118300"	"delins"	"0"	"00000"	"RDH5_000018"	"g.56118300delinsGAAG"	""	"{PMID:Katagiri 2020:32232344}"	""	"RDH5 c.928delCinsGAAG, p.L310delinsEV"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000902054"	"3"	"70"	"12"	"56118300"	"56118300"	"delins"	"0"	"00000"	"RDH5_000018"	"g.56118300delinsGAAG"	""	"{PMID:Katagiri 2020:32232344}"	""	"RDH5 c.928delCinsGAAG, p.L310delinsEV"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000902055"	"2"	"70"	"12"	"56118300"	"56118300"	"delins"	"0"	"00000"	"RDH5_000018"	"g.56118300delinsGAAG"	""	"{PMID:Katagiri 2020:32232344}"	""	"RDH5 c.928delCinsGAAG, p.L310delinsEV"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000902056"	"2"	"70"	"12"	"56118300"	"56118300"	"delins"	"0"	"00000"	"RDH5_000018"	"g.56118300delinsGAAG"	""	"{PMID:Katagiri 2020:32232344}"	""	"RDH5 c.928delCinsGAAG, p.L310delinsEV"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000902057"	"2"	"70"	"12"	"56115662"	"56115662"	"subst"	"4.93746E-5"	"00000"	"RDH5_000226"	"g.56115662G>A"	""	"{PMID:Katagiri 2020:32232344}"	""	"RDH5 c.500G>A, p.R167H"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55721878G>A"	""	"likely pathogenic"	""
"0000902058"	"2"	"70"	"12"	"56115662"	"56115662"	"subst"	"4.93746E-5"	"00000"	"RDH5_000226"	"g.56115662G>A"	""	"{PMID:Katagiri 2020:32232344}"	""	"RDH5 c.500G>A, p.R167H"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55721878G>A"	""	"likely pathogenic"	""
"0000902059"	"2"	"70"	"12"	"56115071"	"56115071"	"subst"	"2.03368E-5"	"00000"	"RDH5_000009"	"g.56115071G>A"	""	"{PMID:Katagiri 2020:32232344}"	""	"RDH5 c.103G>A, p.G35S"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55721287G>A"	""	"likely pathogenic"	""
"0000902060"	"2"	"70"	"12"	"56115481"	"56115481"	"subst"	"0"	"00000"	"RDH5_000033"	"g.56115481G>C"	""	"{PMID:Katagiri 2020:32232344}"	""	"RDH5 c.319G>C, p.G107R"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55721697G>C"	""	"likely pathogenic"	""
"0000902061"	"2"	"70"	"12"	"56115662"	"56115662"	"subst"	"4.93746E-5"	"00000"	"RDH5_000226"	"g.56115662G>A"	""	"{PMID:Katagiri 2020:32232344}"	""	"RDH5 c.500G>A,  p.R167H"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55721878G>A"	""	"likely pathogenic"	""
"0000902062"	"2"	"70"	"12"	"56118300"	"56118300"	"delins"	"0"	"00000"	"RDH5_000018"	"g.56118300delinsGAAG"	""	"{PMID:Katagiri 2020:32232344}"	""	"RDH5 c.928delCinsGAAG, p.L310delinsEV"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000902063"	"2"	"70"	"12"	"56118300"	"56118300"	"delins"	"0"	"00000"	"RDH5_000018"	"g.56118300delinsGAAG"	""	"{PMID:Katagiri 2020:32232344}"	""	"RDH5 c.928delCinsGAAG, p.L310delinsEV"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000902064"	"2"	"70"	"12"	"56118300"	"56118300"	"delins"	"0"	"00000"	"RDH5_000018"	"g.56118300delinsGAAG"	""	"{PMID:Katagiri 2020:32232344}"	""	"RDH5 c.928delCinsGAAG, p.L310delinsEV"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000902065"	"2"	"70"	"12"	"56118300"	"56118300"	"delins"	"0"	"00000"	"RDH5_000018"	"g.56118300delinsGAAG"	""	"{PMID:Katagiri 2020:32232344}"	""	"RDH5 c.928delCinsGAAG, p.L310delinsEV"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000902066"	"2"	"70"	"12"	"56118300"	"56118300"	"delins"	"0"	"00000"	"RDH5_000018"	"g.56118300delinsGAAG"	""	"{PMID:Katagiri 2020:32232344}"	""	"RDH5 c.928delCinsGAAG, p.L310delinsEV"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.55724516delinsGAAG"	""	"likely pathogenic"	""
"0000927593"	"3"	"70"	"12"	"56117813"	"56117813"	"subst"	"0"	"04364"	"RDH5_000231"	"g.56117813G>C"	""	""	""	"g.3663G>C"	"not found in 200 control chromosome"	"Germline"	"yes"	""	"0"	""	""	"g.55724029G>C"	""	"likely pathogenic (recessive)"	"ACMG"
"0000986563"	"3"	"70"	"12"	"56115544"	"56115544"	"subst"	"8.19827E-6"	"04405"	"RDH5_000045"	"g.56115544G>A"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.55721760G>A"	""	"likely pathogenic"	"ACMG"
"0000987330"	"0"	"90"	"12"	"56115632"	"56115632"	"subst"	"3.27423E-5"	"00006"	"RDH5_000057"	"g.56115632G>A"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	"no variant 2nd chromosome, case unsolved"	"Germline"	""	""	"0"	""	""	"g.55721848G>A"	""	"pathogenic"	"ACMG"


## 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 RDH5
## Count = 298
"{{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}}"
"0000019528"	"00017591"	"95"	"839"	"0"	"839"	"0"	"c.839G>A"	"r.(?)"	"p.(Arg280His)"	"5"
"0000140635"	"00017591"	"75"	"55"	"0"	"55"	"0"	"c.55A>G"	"r.(?)"	"p.(Arg19Gly)"	"2"
"0000140636"	"00017591"	"75"	"71"	"0"	"74"	"0"	"c.71_74del"	"r.(?)"	"p.(Leu24Profs*36)"	"2"
"0000140637"	"00017591"	"75"	"71"	"0"	"74"	"0"	"c.71_74del"	"r.(?)"	"p.(Leu24Profs*36)"	"2"
"0000140638"	"00017591"	"75"	"71"	"0"	"74"	"0"	"c.71_74del"	"r.(?)"	"p.(Leu24Profs*36)"	"2"
"0000140639"	"00017591"	"75"	"95"	"0"	"95"	"0"	"c.95del"	"r.(?)"	"p.(Phe32Serfs*29)"	"2"
"0000140640"	"00017591"	"75"	"98"	"0"	"98"	"0"	"c.98T>A"	"r.(?)"	"p.(Ile33Asn)"	"2"
"0000140641"	"00017591"	"75"	"98"	"0"	"98"	"0"	"c.98T>C"	"r.(?)"	"p.(Ile33Thr)"	"2"
"0000140642"	"00017591"	"75"	"103"	"0"	"103"	"0"	"c.103G>A"	"r.(?)"	"p.(Gly35Ser)"	"2"
"0000140643"	"00017591"	"75"	"103"	"0"	"103"	"0"	"c.103G>A"	"r.(?)"	"p.(Gly35Ser)"	"2"
"0000140644"	"00017591"	"75"	"103"	"0"	"103"	"0"	"c.103G>A"	"r.(?)"	"p.(Gly35Ser)"	"2"
"0000140645"	"00017591"	"75"	"103"	"0"	"103"	"0"	"c.103G>A"	"r.(?)"	"p.(Gly35Ser)"	"2"
"0000140646"	"00017591"	"75"	"103"	"0"	"103"	"0"	"c.103G>A"	"r.(?)"	"p.(Gly35Ser)"	"2"
"0000140647"	"00017591"	"75"	"103"	"0"	"103"	"0"	"c.103G>A"	"r.(?)"	"p.(Gly35Ser)"	"2"
"0000140648"	"00017591"	"75"	"103"	"0"	"103"	"0"	"c.103G>A"	"r.(?)"	"p.(Gly35Ser)"	"2"
"0000140649"	"00017591"	"75"	"124"	"0"	"124"	"0"	"c.124C>T"	"r.(?)"	"p.(Arg42Cys)"	"2"
"0000140650"	"00017591"	"75"	"129"	"0"	"129"	"0"	"c.129del"	"r.(?)"	"p.(Leu44Trpfs*17)"	"2"
"0000140651"	"00017591"	"75"	"160"	"0"	"160"	"0"	"c.160C>T"	"r.(?)"	"p.(Arg54*)"	"2"
"0000140652"	"00017591"	"75"	"160"	"0"	"160"	"0"	"c.160C>T"	"r.(?)"	"p.(Arg54*)"	"2"
"0000140653"	"00017591"	"75"	"160"	"0"	"160"	"0"	"c.160C>T"	"r.(?)"	"p.(Arg54*)"	"2"
"0000140654"	"00017591"	"75"	"160"	"0"	"160"	"0"	"c.160C>T"	"r.(?)"	"p.(Arg54*)"	"2"
"0000140655"	"00017591"	"75"	"160"	"0"	"160"	"0"	"c.160C>T"	"r.(?)"	"p.(Arg54*)"	"2"
"0000140656"	"00017591"	"75"	"160"	"0"	"160"	"0"	"c.160C>T"	"r.(?)"	"p.(Arg54*)"	"2"
"0000140657"	"00017591"	"75"	"160"	"0"	"160"	"0"	"c.160C>T"	"r.(?)"	"p.(Arg54*)"	"2"
"0000140658"	"00017591"	"75"	"160"	"0"	"160"	"0"	"c.160C>T"	"r.(?)"	"p.(Arg54*)"	"2"
"0000140659"	"00017591"	"75"	"160"	"0"	"160"	"0"	"c.160C>T"	"r.(?)"	"p.(Arg54*)"	"2"
"0000140660"	"00017591"	"75"	"160"	"0"	"160"	"0"	"c.160C>T"	"r.(?)"	"p.(Arg54*)"	"2"
"0000140661"	"00017591"	"75"	"175"	"0"	"175"	"0"	"c.175T>A"	"r.(?)"	"p.(Cys59Ser)"	"2"
"0000140662"	"00017591"	"75"	"211"	"0"	"214"	"0"	"c.211_214dup"	"r.(?)"	"p.(Ala72Glyfs*15)"	"2"
"0000140663"	"00017591"	"75"	"218"	"0"	"218"	"0"	"c.218C>T"	"r.(?)"	"p.(Ser73Phe)"	"2"
"0000140664"	"00017591"	"75"	"285"	"0"	"285"	"0"	"c.285G>A"	"r.(?)"	"p.(Trp95*)"	"2"
"0000140665"	"00017591"	"75"	"310"	"1"	"310"	"1"	"c.310+1G>A"	"r.spl?"	"p.?"	"2i"
"0000140666"	"00017591"	"75"	"319"	"0"	"319"	"0"	"c.319G>C"	"r.(?)"	"p.(Gly107Arg)"	"3"
"0000140667"	"00017591"	"75"	"319"	"0"	"319"	"0"	"c.319G>C"	"r.(?)"	"p.(Gly107Arg)"	"3"
"0000140668"	"00017591"	"75"	"319"	"0"	"319"	"0"	"c.319G>C"	"r.(?)"	"p.(Gly107Arg)"	"3"
"0000140669"	"00017591"	"75"	"319"	"0"	"319"	"0"	"c.319G>C"	"r.(?)"	"p.(Gly107Arg)"	"3"
"0000140670"	"00017591"	"75"	"346"	"0"	"346"	"0"	"c.346G>C"	"r.(?)"	"p.(Gly116Arg)"	"3"
"0000140671"	"00017591"	"75"	"347"	"0"	"348"	"0"	"c.347_348insCAG"	"r.(?)"	"p.(Gly116_Ile117insSer)"	"3"
"0000140672"	"00017591"	"75"	"382"	"0"	"382"	"0"	"c.382G>A"	"r.(?)"	"p.(Asp128Asn)"	"3"
"0000140673"	"00017591"	"75"	"382"	"0"	"382"	"0"	"c.382G>A"	"r.(?)"	"p.(Asp128Asn)"	"3"
"0000140674"	"00017591"	"75"	"382"	"0"	"382"	"0"	"c.382G>A"	"r.(?)"	"p.(Asp128Asn)"	"3"
"0000140675"	"00017591"	"75"	"382"	"0"	"382"	"0"	"c.382G>A"	"r.(?)"	"p.(Asp128Asn)"	"3"
"0000140676"	"00017591"	"75"	"382"	"0"	"382"	"0"	"c.382G>A"	"r.(?)"	"p.(Asp128Asn)"	"3"
"0000140677"	"00017591"	"75"	"394"	"0"	"394"	"0"	"c.394G>A"	"r.(?)"	"p.(Val132Met)"	"3"
"0000140678"	"00017591"	"75"	"394"	"0"	"394"	"0"	"c.394G>A"	"r.(?)"	"p.(Val132Met)"	"3"
"0000140679"	"00017591"	"75"	"394"	"0"	"394"	"0"	"c.394G>A"	"r.(?)"	"p.(Val132Met)"	"3"
"0000140680"	"00017591"	"75"	"416"	"0"	"416"	"0"	"c.416G>T"	"r.(?)"	"p.(Gly139Val)"	"3"
"0000140681"	"00017591"	"75"	"469"	"0"	"469"	"0"	"c.469C>T"	"r.(?)"	"p.(Arg157Trp)"	"3"
"0000140682"	"00017591"	"75"	"470"	"0"	"470"	"0"	"c.470G>A"	"r.(?)"	"p.(Arg157Gln)"	"3"
"0000140683"	"00017591"	"75"	"470"	"0"	"470"	"0"	"c.470G>A"	"r.(?)"	"p.(Arg157Gln)"	"3"
"0000140684"	"00017591"	"75"	"490"	"0"	"490"	"0"	"c.490G>T"	"r.(?)"	"p.(Val164Phe)"	"3"
"0000140685"	"00017591"	"75"	"530"	"0"	"530"	"0"	"c.530T>G"	"r.(?)"	"p.(Val177Gly)"	"3"
"0000140686"	"00017591"	"75"	"530"	"0"	"530"	"0"	"c.530T>G"	"r.(?)"	"p.(Val177Gly)"	"3"
"0000140687"	"00017591"	"75"	"572"	"0"	"572"	"0"	"c.572G>A"	"r.(?)"	"p.(Arg191Gln)"	"4"
"0000140688"	"00017591"	"75"	"625"	"0"	"625"	"0"	"c.625C>T"	"r.(?)"	"p.(Arg209*)"	"4"
"0000140689"	"00017591"	"75"	"689"	"0"	"690"	"0"	"c.689_690delinsGG"	"r.(?)"	"p.(Pro230Arg)"	"4"
"0000140690"	"00017591"	"75"	"710"	"0"	"710"	"0"	"c.710A>C"	"r.(?)"	"p.(Tyr237Ser)"	"4"
"0000140691"	"00017591"	"75"	"712"	"0"	"712"	"0"	"c.712G>T"	"r.(?)"	"p.(Gly238Trp)"	"4"
"0000140692"	"00017591"	"75"	"712"	"0"	"712"	"0"	"c.712G>T"	"r.(?)"	"p.(Gly238Trp)"	"4"
"0000140693"	"00017591"	"75"	"712"	"0"	"712"	"0"	"c.712G>T"	"r.(?)"	"p.(Gly238Trp)"	"4"
"0000140694"	"00017591"	"75"	"712"	"0"	"712"	"0"	"c.712G>T"	"r.(?)"	"p.(Gly238Trp)"	"4"
"0000140695"	"00017591"	"75"	"712"	"0"	"712"	"0"	"c.712G>T"	"r.(?)"	"p.(Gly238Trp)"	"4"
"0000140696"	"00017591"	"75"	"712"	"0"	"712"	"0"	"c.712G>T"	"r.(?)"	"p.(Gly238Trp)"	"4"
"0000140697"	"00017591"	"75"	"712"	"0"	"712"	"0"	"c.712G>T"	"r.(?)"	"p.(Gly238Trp)"	"4"
"0000140698"	"00017591"	"75"	"712"	"0"	"712"	"0"	"c.712G>T"	"r.(?)"	"p.(Gly238Trp)"	"4"
"0000140699"	"00017591"	"75"	"712"	"0"	"712"	"0"	"c.712G>T"	"r.(?)"	"p.(Gly238Trp)"	"4"
"0000140700"	"00017591"	"75"	"712"	"0"	"712"	"0"	"c.712G>T"	"r.(?)"	"p.(Gly238Trp)"	"4"
"0000140701"	"00017591"	"75"	"712"	"0"	"712"	"0"	"c.712G>T"	"r.(?)"	"p.(Gly238Trp)"	"4"
"0000140702"	"00017591"	"75"	"718"	"0"	"718"	"0"	"c.718dup"	"r.(?)"	"p.(Ala240Glyfs*19)"	"4"
"0000140703"	"00017591"	"75"	"718"	"0"	"718"	"0"	"c.718dup"	"r.(?)"	"p.(Ala240Glyfs*19)"	"4"
"0000140704"	"00017591"	"75"	"758"	"0"	"758"	"0"	"c.758T>G"	"r.(?)"	"p.(Met253Arg)"	"5"
"0000140705"	"00017591"	"75"	"758"	"0"	"758"	"0"	"c.758T>G"	"r.(?)"	"p.(Met253Arg)"	"5"
"0000140706"	"00017591"	"75"	"758"	"0"	"758"	"0"	"c.758T>G"	"r.(?)"	"p.(Met253Arg)"	"5"
"0000140707"	"00017591"	"75"	"758"	"0"	"758"	"0"	"c.758T>G"	"r.(?)"	"p.(Met253Arg)"	"5"
"0000140708"	"00017591"	"75"	"758"	"0"	"758"	"0"	"c.758T>G"	"r.(?)"	"p.(Met253Arg)"	"5"
"0000140709"	"00017591"	"75"	"791"	"0"	"791"	"0"	"c.791T>G"	"r.(?)"	"p.(Val264Gly)"	"5"
"0000140710"	"00017591"	"75"	"791"	"0"	"791"	"0"	"c.791T>G"	"r.(?)"	"p.(Val264Gly)"	"5"
"0000140711"	"00017591"	"75"	"791"	"0"	"791"	"0"	"c.791T>G"	"r.(?)"	"p.(Val264Gly)"	"5"
"0000140712"	"00017591"	"75"	"801"	"0"	"801"	"0"	"c.801C>G"	"r.(?)"	"p.(Cys267Trp)"	"5"
"0000140713"	"00017591"	"75"	"824"	"0"	"825"	"0"	"c.824_825del"	"r.(?)"	"p.(Arg275Profs*60)"	"5"
"0000140714"	"00017591"	"75"	"833"	"0"	"833"	"0"	"c.833G>A"	"r.(?)"	"p.(Arg278Gln)"	"5"
"0000140715"	"00017591"	"75"	"839"	"0"	"839"	"0"	"c.839G>A"	"r.(?)"	"p.(Arg280His)"	"5"
"0000140716"	"00017591"	"75"	"839"	"0"	"839"	"0"	"c.839G>A"	"r.(?)"	"p.(Arg280His)"	"5"
"0000140717"	"00017591"	"75"	"839"	"0"	"839"	"0"	"c.839G>A"	"r.(?)"	"p.(Arg280His)"	"5"
"0000140718"	"00017591"	"75"	"839"	"0"	"839"	"0"	"c.839G>A"	"r.(?)"	"p.(Arg280His)"	"5"
"0000140719"	"00017591"	"95"	"839"	"0"	"839"	"0"	"c.839G>A"	"r.(?)"	"p.(Arg280His)"	"5"
"0000140720"	"00017591"	"95"	"839"	"0"	"839"	"0"	"c.839G>A"	"r.(?)"	"p.(Arg280His)"	"5"
"0000140721"	"00017591"	"75"	"839"	"0"	"839"	"0"	"c.839G>A"	"r.(?)"	"p.(Arg280His)"	"5"
"0000140722"	"00017591"	"75"	"839"	"0"	"839"	"0"	"c.839G>A"	"r.(?)"	"p.(Arg280His)"	"5"
"0000140723"	"00017591"	"75"	"839"	"0"	"839"	"0"	"c.839G>A"	"r.(?)"	"p.(Arg280His)"	"5"
"0000140724"	"00017591"	"75"	"839"	"0"	"839"	"0"	"c.839G>A"	"r.(?)"	"p.(Arg280His)"	"5"
"0000140725"	"00017591"	"75"	"839"	"0"	"839"	"0"	"c.839G>A"	"r.(?)"	"p.(Arg280His)"	"5"
"0000140726"	"00017591"	"75"	"841"	"0"	"841"	"0"	"c.841T>C"	"r.(?)"	"p.(Tyr281His)"	"5"
"0000140727"	"00017591"	"75"	"841"	"0"	"841"	"0"	"c.841T>C"	"r.(?)"	"p.(Tyr281His)"	"5"
"0000140728"	"00017591"	"75"	"841"	"0"	"841"	"0"	"c.841T>C"	"r.(?)"	"p.(Tyr281His)"	"5"
"0000140729"	"00017591"	"95"	"880"	"0"	"880"	"0"	"c.880G>C"	"r.(?)"	"p.(Ala294Pro)"	"5"
"0000140730"	"00017591"	"95"	"880"	"0"	"880"	"0"	"c.880G>C"	"r.(?)"	"p.(Ala294Pro)"	"5"
"0000140731"	"00017591"	"75"	"880"	"0"	"880"	"0"	"c.880G>C"	"r.(?)"	"p.(Ala294Pro)"	"5"
"0000140732"	"00017591"	"75"	"913"	"0"	"917"	"0"	"c.913_917del"	"r.(?)"	"p.(Val305Hisfs*29)"	"5"
"0000140733"	"00017591"	"75"	"913"	"0"	"917"	"0"	"c.913_917del"	"r.(?)"	"p.(Val305Hisfs*29)"	"5"
"0000140734"	"00017591"	"75"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	"5"
"0000140735"	"00017591"	"75"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	"5"
"0000140736"	"00017591"	"75"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	"5"
"0000140737"	"00017591"	"75"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	"5"
"0000140738"	"00017591"	"75"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	"5"
"0000140739"	"00017591"	"75"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	"5"
"0000140740"	"00017591"	"75"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	"5"
"0000140741"	"00017591"	"75"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	"5"
"0000140742"	"00017591"	"75"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	"5"
"0000140743"	"00017591"	"75"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	"5"
"0000140744"	"00017591"	"75"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	"5"
"0000140745"	"00017591"	"75"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	"5"
"0000140746"	"00017591"	"75"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	"5"
"0000140747"	"00017591"	"75"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	"5"
"0000140748"	"00017591"	"75"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	"5"
"0000140749"	"00017591"	"75"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	"5"
"0000140750"	"00017591"	"75"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	"5"
"0000140751"	"00017591"	"75"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	"5"
"0000140752"	"00017591"	"75"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	"5"
"0000140753"	"00017591"	"75"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	"5"
"0000140754"	"00017591"	"75"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	"5"
"0000140755"	"00017591"	"75"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	"5"
"0000140756"	"00017591"	"75"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	"5"
"0000140757"	"00017591"	"75"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	"5"
"0000140758"	"00017591"	"75"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	"5"
"0000140759"	"00017591"	"75"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	"5"
"0000140760"	"00017591"	"75"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	"5"
"0000140761"	"00017591"	"75"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	"5"
"0000140762"	"00017591"	"75"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	"5"
"0000140763"	"00017591"	"75"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	"5"
"0000140764"	"00017591"	"75"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	"5"
"0000140765"	"00017591"	"75"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	"5"
"0000140766"	"00017591"	"75"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	"5"
"0000140767"	"00017591"	"75"	"955"	"0"	"955"	"0"	"c.955T>C"	"r.(?)"	"p.(*319Argext*32)"	"5"
"0000158327"	"00017591"	"90"	"758"	"0"	"758"	"0"	"c.758T>G"	"r.(?)"	"p.(Met253Arg)"	"5"
"0000162786"	"00017591"	"90"	"758"	"0"	"758"	"0"	"c.758T>G"	"r.(?)"	"p.(Met253Arg)"	"5"
"0000162808"	"00017591"	"90"	"536"	"0"	"536"	"0"	"c.536A>G"	"r.(?)"	"p.(Lys179Arg)"	""
"0000247164"	"00017591"	"30"	"97"	"0"	"97"	"0"	"c.97A>G"	"r.(?)"	"p.(Ile33Val)"	""
"0000254847"	"00017591"	"30"	"366"	"0"	"366"	"0"	"c.366A>G"	"r.(?)"	"p.(Pro122=)"	""
"0000285391"	"00017591"	"10"	"-8440"	"0"	"-8440"	"0"	"c.-8440G>A"	"r.(?)"	"p.(=)"	""
"0000294782"	"00017591"	"10"	"62"	"0"	"62"	"0"	"c.62G>A"	"r.(?)"	"p.(Arg21Gln)"	""
"0000306899"	"00017591"	"30"	"31"	"0"	"31"	"0"	"c.31C>T"	"r.(?)"	"p.(Leu11Phe)"	""
"0000306900"	"00017591"	"50"	"464"	"0"	"464"	"0"	"c.464G>A"	"r.(?)"	"p.(Arg155Gln)"	""
"0000306901"	"00017591"	"30"	"600"	"0"	"600"	"0"	"c.600C>A"	"r.(?)"	"p.(Val200=)"	""
"0000306902"	"00017591"	"30"	"752"	"0"	"752"	"0"	"c.752G>A"	"r.(?)"	"p.(Arg251His)"	""
"0000340244"	"00017591"	"10"	"423"	"0"	"423"	"0"	"c.423C>T"	"r.(?)"	"p.(Ile141=)"	""
"0000358324"	"00017591"	"90"	"71"	"0"	"74"	"0"	"c.71_74del"	"r.(?)"	"p.(Leu24Profs*36)"	"2"
"0000358325"	"00017591"	"90"	"160"	"0"	"160"	"0"	"c.160C>T"	"r.(?)"	"p.(Arg54*)"	"2"
"0000358326"	"00017591"	"70"	"382"	"0"	"382"	"0"	"c.382G>A"	"r.(?)"	"p.(Asp128Asn)"	"3"
"0000358327"	"00017591"	"70"	"382"	"0"	"382"	"0"	"c.382G>A"	"r.(?)"	"p.(Asp128Asn)"	"3"
"0000358328"	"00017591"	"90"	"412"	"0"	"412"	"0"	"c.412del"	"r.(?)"	"p.(Met138Trpfs*21)"	"3"
"0000358451"	"00017591"	"90"	"547"	"0"	"547"	"0"	"c.547G>T"	"r.(?)"	"p.(Glu183*)"	"3"
"0000548667"	"00017591"	"30"	"-8440"	"0"	"-8440"	"0"	"c.-8440G>A"	"r.(?)"	"p.(=)"	""
"0000548668"	"00017591"	"30"	"-8402"	"0"	"-8402"	"0"	"c.-8402A>C"	"r.(?)"	"p.(=)"	""
"0000548669"	"00017591"	"10"	"525"	"0"	"525"	"0"	"c.525C>T"	"r.(?)"	"p.(Tyr175=)"	""
"0000548670"	"00017591"	"10"	"570"	"-18"	"570"	"-18"	"c.570-18G>A"	"r.(=)"	"p.(=)"	""
"0000548671"	"00017591"	"90"	"712"	"0"	"712"	"0"	"c.712G>T"	"r.(?)"	"p.(Gly238Trp)"	""
"0000648617"	"00017591"	"50"	"97"	"0"	"97"	"0"	"c.97A>G"	"r.(?)"	"p.(Ile33Val)"	""
"0000685399"	"00017591"	"90"	"71"	"0"	"74"	"0"	"c.71_74del"	"r.(?)"	"p.(Leu24Profs*36)"	""
"0000685400"	"00017591"	"90"	"160"	"0"	"160"	"0"	"c.160C>T"	"r.(?)"	"p.(Arg54*)"	""
"0000685401"	"00017591"	"90"	"160"	"0"	"160"	"0"	"c.160C>T"	"r.(?)"	"p.(Arg54*)"	""
"0000685402"	"00017591"	"90"	"160"	"0"	"160"	"0"	"c.160C>T"	"r.(?)"	"p.(Arg54*)"	""
"0000685403"	"00017591"	"90"	"160"	"0"	"160"	"0"	"c.160C>T"	"r.(?)"	"p.(Arg54*)"	""
"0000685404"	"00017591"	"90"	"243"	"0"	"246"	"0"	"c.243_246del"	"r.(?)"	"p.(Asp82Serfs*27)"	""
"0000685405"	"00017591"	"90"	"382"	"0"	"382"	"0"	"c.382G>A"	"r.(?)"	"p.(Asp128Asn)"	""
"0000685407"	"00017591"	"90"	"412"	"0"	"412"	"0"	"c.412del"	"r.(?)"	"p.(Met138Trpfs*21)"	""
"0000685408"	"00017591"	"90"	"547"	"0"	"547"	"0"	"c.547G>T"	"r.(?)"	"p.(Glu183*)"	""
"0000685409"	"00017591"	"90"	"572"	"0"	"572"	"0"	"c.572G>A"	"r.(?)"	"p.(Arg191Gln)"	""
"0000685410"	"00017591"	"90"	"572"	"0"	"572"	"0"	"c.572G>A"	"r.(?)"	"p.(Arg191Gln)"	""
"0000685411"	"00017591"	"90"	"712"	"0"	"712"	"0"	"c.712G>T"	"r.(?)"	"p.(Gly238Trp)"	""
"0000685412"	"00017591"	"90"	"718"	"0"	"718"	"0"	"c.718dup"	"r.(?)"	"p.(Ala240Glyfs*19)"	""
"0000685413"	"00017591"	"70"	"880"	"0"	"880"	"0"	"c.880G>C"	"r.(?)"	"p.(Ala294Pro)"	""
"0000691389"	"00017591"	"50"	"53"	"0"	"53"	"0"	"c.53T>C"	"r.(?)"	"p.(Leu18Pro)"	""
"0000710215"	"00017591"	"50"	"797"	"0"	"797"	"0"	"c.797G>A"	"r.(?)"	"p.(Arg266Gln)"	""
"0000710232"	"00017591"	"90"	"839"	"0"	"839"	"0"	"c.839G>A"	"r.(?)"	"p.(Arg280His)"	""
"0000710331"	"00017591"	"50"	"848"	"0"	"848"	"0"	"c.848C>G"	"r.(?)"	"p.(Pro283Arg)"	""
"0000730624"	"00017591"	"90"	"469"	"0"	"469"	"0"	"c.469C>T"	"r.(?)"	"p.(Arg157Trp)"	"3"
"0000735166"	"00017591"	"70"	"536"	"0"	"536"	"0"	"c.536A>G"	"r.(?)"	"p.(Lys179Arg)"	""
"0000736157"	"00017591"	"70"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	""
"0000760233"	"00017591"	"50"	"536"	"0"	"536"	"0"	"c.536A>G"	"r.(?)"	"p.(Lys179Arg)"	""
"0000786418"	"00017591"	"90"	"839"	"0"	"839"	"0"	"c.839G>A"	"r.(?)"	"p.(Arg280His)"	""
"0000791555"	"00017591"	"70"	"625"	"0"	"625"	"0"	"c.625C>T"	"r.(?)"	"p.(Arg209*)"	"4"
"0000791566"	"00017591"	"70"	"776"	"0"	"776"	"0"	"c.776C>T"	"r.(?)"	"p.(Pro259Leu)"	"5"
"0000793887"	"00017591"	"70"	"211"	"0"	"214"	"0"	"c.211_214dup"	"r.(?)"	"p.(Ala72Glyfs*15)"	"2"
"0000793888"	"00017591"	"70"	"103"	"0"	"103"	"0"	"c.103G>A"	"r.(?)"	"p.(Gly35Ser)"	"2"
"0000795952"	"00017591"	"90"	"625"	"0"	"625"	"0"	"c.625C>T"	"r.(?)"	"p.(Arg209*)"	"4"
"0000796694"	"00017591"	"90"	"602"	"0"	"602"	"0"	"c.602C>T"	"r.(?)"	"p.(Ser201Phe)"	"4"
"0000796909"	"00017591"	"90"	"839"	"0"	"839"	"0"	"c.839G>A"	"r.(?)"	"p.(Arg280His)"	"5"
"0000798063"	"00017591"	"70"	"208"	"0"	"208"	"0"	"c.208C>T"	"r.(?)"	"p.(Arg70Trp)"	""
"0000798411"	"00017591"	"10"	"423"	"0"	"423"	"0"	"c.423C>A"	"r.(=)"	"p.(=)"	"3"
"0000805846"	"00017591"	"10"	"570"	"-8"	"570"	"-8"	"c.570-8G>C"	"r.(=)"	"p.(=)"	""
"0000805847"	"00017591"	"50"	"950"	"0"	"950"	"0"	"c.950T>C"	"r.(?)"	"p.(Val317Ala)"	""
"0000812231"	"00017591"	"70"	"839"	"0"	"839"	"0"	"c.839G>A"	"r.(?)"	"p.(Arg280His)"	"5"
"0000812255"	"00017591"	"70"	"712"	"0"	"712"	"0"	"c.712G>T"	"r.(?)"	"p.(Gly238Trp)"	"4"
"0000812256"	"00017591"	"70"	"572"	"0"	"572"	"0"	"c.572G>A"	"r.(?)"	"p.(Arg191Gln)"	"4"
"0000815088"	"00017591"	"90"	"536"	"0"	"536"	"0"	"c.536A>G"	"r.(?)"	"p.(Lys179Arg)"	"3"
"0000815347"	"00017591"	"90"	"625"	"0"	"625"	"0"	"c.625C>T"	"r.(?)"	"p.(Arg209Ter)"	""
"0000815433"	"00017591"	"50"	"261"	"0"	"261"	"0"	"c.261G>C"	"r.(?)"	"p.(Gln87His)"	""
"0000815479"	"00017591"	"50"	"572"	"0"	"572"	"0"	"c.572G>A"	"r.(?)"	"p.(Arg191Gln)"	""
"0000815491"	"00017591"	"70"	"839"	"0"	"839"	"0"	"c.839G>A"	"r.(?)"	"p.(Arg280His)"	""
"0000817627"	"00017591"	"70"	"712"	"0"	"712"	"0"	"c.712G>T"	"r.(?)"	"p.(Gly238Trp)"	""
"0000819680"	"00017591"	"70"	"572"	"0"	"572"	"0"	"c.572G>A"	"r.(?)"	"p.(Arg191Gln)"	""
"0000819941"	"00017591"	"70"	"712"	"0"	"712"	"0"	"c.712G>T"	"r.(?)"	"p.(Gly238Trp)"	""
"0000821009"	"00017591"	"70"	"890"	"0"	"890"	"0"	"c.890T>C"	"r.(?)"	"p.(Leu297Pro)"	""
"0000822738"	"00017591"	"70"	"469"	"0"	"469"	"0"	"c.469C>T"	"r.(?)"	"p.(Arg157Trp)"	"3"
"0000822739"	"00017591"	"70"	"469"	"0"	"469"	"0"	"c.469C>T"	"r.(?)"	"p.(Arg157Trp)"	"3"
"0000826198"	"00017591"	"70"	"710"	"0"	"710"	"0"	"c.710A>G"	"r.(?)"	"p.(Tyr237Cys)"	"4"
"0000826199"	"00017591"	"70"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	"5"
"0000863069"	"00017591"	"30"	"525"	"0"	"525"	"0"	"c.525C>T"	"r.(?)"	"p.(Tyr175=)"	""
"0000863070"	"00017591"	"50"	"545"	"0"	"545"	"0"	"c.545T>C"	"r.(?)"	"p.(Leu182Pro)"	""
"0000872942"	"00017591"	"70"	"469"	"0"	"469"	"0"	"c.469C>T"	"r.(?)"	"p.(Arg157Trp)"	""
"0000872948"	"00017591"	"70"	"103"	"0"	"103"	"0"	"c.103G>A"	"r.(?)"	"p.(Gly35Ser)"	""
"0000872949"	"00017591"	"70"	"218"	"0"	"218"	"0"	"c.218C>T"	"r.(?)"	"p.(Ser73Phe)"	""
"0000872950"	"00017591"	"70"	"313"	"0"	"313"	"0"	"c.313C>A"	"r.(?)"	"p.(Leu105Ile)"	""
"0000872951"	"00017591"	"70"	"382"	"0"	"382"	"0"	"c.382G>A"	"r.(?)"	"p.(Asp128Asn)"	""
"0000872952"	"00017591"	"70"	"469"	"0"	"469"	"0"	"c.469C>T"	"r.(?)"	"p.(Arg157Trp)"	""
"0000872953"	"00017591"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	""
"0000872954"	"00017591"	"70"	"712"	"0"	"712"	"0"	"c.712G>T"	"r.(?)"	"p.(Gly238Trp)"	""
"0000872955"	"00017591"	"70"	"791"	"0"	"791"	"0"	"c.791T>G"	"r.(?)"	"p.(Val264Gly)"	""
"0000872956"	"00017591"	"70"	"839"	"0"	"839"	"0"	"c.839G>A"	"r.(?)"	"p.(Arg280His)"	""
"0000872957"	"00017591"	"70"	"880"	"0"	"880"	"0"	"c.880G>C"	"r.(?)"	"p.(Ala294Pro)"	""
"0000872958"	"00017591"	"70"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	""
"0000872969"	"00017591"	"70"	"602"	"0"	"602"	"0"	"c.602C>T"	"r.(?)"	"p.(Ser201Phe)"	""
"0000872970"	"00017591"	"70"	"602"	"0"	"602"	"0"	"c.602C>T"	"r.(?)"	"p.(Ser201Phe)"	""
"0000872971"	"00017591"	"70"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	"5"
"0000872972"	"00017591"	"70"	"500"	"0"	"500"	"0"	"c.500G>A"	"r.(?)"	"p.(Arg167His)"	""
"0000873001"	"00017591"	"70"	"913"	"0"	"917"	"0"	"c.913_917delGTGCT"	"r.(?)"	"p.(Val305Hisfs*29)"	""
"0000873002"	"00017591"	"70"	"913"	"0"	"917"	"0"	"c.913_917delGTGCT"	"r.(?)"	"p.(Val305Hisfs*29)"	""
"0000873003"	"00017591"	"70"	"758"	"0"	"758"	"0"	"c.758T>G"	"r.(?)"	"p.(Met253Arg)"	""
"0000873004"	"00017591"	"70"	"758"	"0"	"758"	"0"	"c.758T>G"	"r.(?)"	"p.(Met253Arg)"	""
"0000873005"	"00017591"	"70"	"758"	"0"	"758"	"0"	"c.758T>G"	"r.(?)"	"p.(Met253Arg)"	""
"0000873006"	"00017591"	"70"	"758"	"0"	"758"	"0"	"c.758T>G"	"r.(?)"	"p.(Met253Arg)"	""
"0000873007"	"00017591"	"70"	"758"	"0"	"758"	"0"	"c.758T>G"	"r.(?)"	"p.(Met253Arg)"	""
"0000873010"	"00017591"	"70"	"718"	"0"	"718"	"0"	"c.718del"	"r.(?)"	"p.(Ala240Profs*7)"	""
"0000873011"	"00017591"	"70"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	""
"0000873012"	"00017591"	"70"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	""
"0000873013"	"00017591"	"70"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	""
"0000873014"	"00017591"	"70"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	""
"0000873016"	"00017591"	"70"	"500"	"0"	"500"	"0"	"c.500G>A"	"r.(?)"	"p.(Arg167His)"	""
"0000873017"	"00017591"	"70"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	""
"0000873018"	"00017591"	"70"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	""
"0000873019"	"00017591"	"70"	"832"	"0"	"832"	"0"	"c.832C>T"	"r.(?)"	"p.(Arg278*)"	""
"0000873020"	"00017591"	"70"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	""
"0000873021"	"00017591"	"70"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	""
"0000873023"	"00017591"	"70"	"524"	"0"	"524"	"0"	"c.524A>T"	"r.(?)"	"p.(Tyr175Phe)"	""
"0000873056"	"00017591"	"70"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	""
"0000873057"	"00017591"	"70"	"500"	"0"	"500"	"0"	"c.500G>A"	"r.(?)"	"p.(Arg167His)"	""
"0000873058"	"00017591"	"70"	"500"	"0"	"500"	"0"	"c.500G>A"	"r.(?)"	"p.(Arg167His)"	""
"0000873060"	"00017591"	"70"	"718"	"0"	"718"	"0"	"c.718dup"	"r.(?)"	"p.(Ala240Glyfs*19)"	""
"0000873061"	"00017591"	"70"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	""
"0000900719"	"00017591"	"70"	"-33"	"2"	"-33"	"2"	"c.-33+2dup"	"r.(?)"	"p.?"	""
"0000900720"	"00017591"	"70"	"-33"	"2"	"-33"	"2"	"c.-33+2dup"	"r.(?)"	"p.?"	""
"0000900721"	"00017591"	"70"	"-33"	"2"	"-33"	"2"	"c.-33+2dup"	"r.(?)"	"p.?"	""
"0000900722"	"00017591"	"70"	"-33"	"2"	"-33"	"2"	"c.-33+2dup"	"r.(?)"	"p.?"	""
"0000900723"	"00017591"	"70"	"-33"	"2"	"-33"	"2"	"c.-33+2dup"	"r.(?)"	"p.?"	""
"0000900724"	"00017591"	"70"	"-33"	"2"	"-33"	"2"	"c.-33+2dup"	"r.(?)"	"p.?"	""
"0000900725"	"00017591"	"70"	"-33"	"2"	"-33"	"2"	"c.-33+2dup"	"r.(?)"	"p.?"	""
"0000900726"	"00017591"	"70"	"-33"	"2"	"-33"	"2"	"c.-33+2dup"	"r.(?)"	"p.?"	""
"0000902030"	"00017591"	"70"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	""
"0000902031"	"00017591"	"70"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	""
"0000902032"	"00017591"	"70"	"500"	"0"	"500"	"0"	"c.500G>A"	"r.(?)"	"p.(Arg167His)"	""
"0000902033"	"00017591"	"70"	"500"	"0"	"500"	"0"	"c.500G>A"	"r.(?)"	"p.(Arg167His)"	""
"0000902034"	"00017591"	"70"	"103"	"0"	"103"	"0"	"c.103G>A"	"r.(?)"	"p.(Gly35Ser)"	""
"0000902035"	"00017591"	"70"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	""
"0000902036"	"00017591"	"70"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	""
"0000902037"	"00017591"	"70"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	""
"0000902038"	"00017591"	"70"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	""
"0000902039"	"00017591"	"70"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	""
"0000902040"	"00017591"	"70"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	""
"0000902041"	"00017591"	"70"	"259"	"0"	"259"	"0"	"c.259C>T"	"r.(?)"	"p.(Gln87Ter)"	""
"0000902042"	"00017591"	"70"	"319"	"0"	"319"	"0"	"c.319G>C"	"r.(?)"	"p.(Gly107Arg)"	""
"0000902043"	"00017591"	"70"	"500"	"0"	"500"	"0"	"c.500G>A"	"r.(?)"	"p.(Arg167His)"	""
"0000902044"	"00017591"	"70"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	""
"0000902045"	"00017591"	"70"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	""
"0000902046"	"00017591"	"70"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	""
"0000902047"	"00017591"	"70"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	""
"0000902048"	"00017591"	"70"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	""
"0000902049"	"00017591"	"70"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	""
"0000902050"	"00017591"	"70"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	""
"0000902051"	"00017591"	"70"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	""
"0000902052"	"00017591"	"70"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	""
"0000902053"	"00017591"	"70"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	""
"0000902054"	"00017591"	"70"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	""
"0000902055"	"00017591"	"70"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	""
"0000902056"	"00017591"	"70"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	""
"0000902057"	"00017591"	"70"	"500"	"0"	"500"	"0"	"c.500G>A"	"r.(?)"	"p.(Arg167His)"	""
"0000902058"	"00017591"	"70"	"500"	"0"	"500"	"0"	"c.500G>A"	"r.(?)"	"p.(Arg167His)"	""
"0000902059"	"00017591"	"70"	"103"	"0"	"103"	"0"	"c.103G>A"	"r.(?)"	"p.(Gly35Ser)"	""
"0000902060"	"00017591"	"70"	"319"	"0"	"319"	"0"	"c.319G>C"	"r.(?)"	"p.(Gly107Arg)"	""
"0000902061"	"00017591"	"70"	"500"	"0"	"500"	"0"	"c.500G>A"	"r.(?)"	"p.(Arg167His)"	""
"0000902062"	"00017591"	"70"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	""
"0000902063"	"00017591"	"70"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	""
"0000902064"	"00017591"	"70"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	""
"0000902065"	"00017591"	"70"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	""
"0000902066"	"00017591"	"70"	"928"	"0"	"928"	"0"	"c.928delinsGAAG"	"r.(?)"	"p.(Leu310delinsGluVal)"	""
"0000927593"	"00017591"	"70"	"713"	"0"	"713"	"0"	"c.713G>C"	"r.(?)"	"p.(Gly238Ala)"	"4"
"0000986563"	"00017591"	"70"	"382"	"0"	"382"	"0"	"c.382G>A"	"r.(?)"	"p.(Asp128Asn)"	"3"
"0000987330"	"00017591"	"90"	"470"	"0"	"470"	"0"	"c.470G>A"	"r.(?)"	"p.(Arg157Gln)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 279
"{{screeningid}}"	"{{variantid}}"
"0000001618"	"0000019528"
"0000088093"	"0000140635"
"0000088094"	"0000140639"
"0000088094"	"0000140691"
"0000088095"	"0000140640"
"0000088095"	"0000140681"
"0000088096"	"0000140641"
"0000088096"	"0000140692"
"0000088097"	"0000140642"
"0000088098"	"0000140643"
"0000088099"	"0000140644"
"0000088100"	"0000140645"
"0000088101"	"0000140646"
"0000088101"	"0000140734"
"0000088102"	"0000140647"
"0000088102"	"0000140735"
"0000088103"	"0000140648"
"0000088103"	"0000140736"
"0000088104"	"0000140649"
"0000088104"	"0000140737"
"0000088105"	"0000140650"
"0000088106"	"0000140662"
"0000088106"	"0000140712"
"0000088107"	"0000140663"
"0000088107"	"0000140693"
"0000088108"	"0000140665"
"0000088108"	"0000140694"
"0000088109"	"0000140666"
"0000088110"	"0000140667"
"0000088111"	"0000140668"
"0000088112"	"0000140669"
"0000088112"	"0000140738"
"0000088113"	"0000140671"
"0000088114"	"0000140670"
"0000088114"	"0000140690"
"0000088115"	"0000140672"
"0000088116"	"0000140673"
"0000088116"	"0000140695"
"0000088117"	"0000140677"
"0000088117"	"0000140715"
"0000088118"	"0000140678"
"0000088118"	"0000140716"
"0000088119"	"0000140679"
"0000088119"	"0000140717"
"0000088120"	"0000140680"
"0000088120"	"0000140767"
"0000088121"	"0000140682"
"0000088122"	"0000140683"
"0000088122"	"0000140696"
"0000088123"	"0000140684"
"0000088124"	"0000140685"
"0000088124"	"0000140718"
"0000088125"	"0000140686"
"0000088125"	"0000140739"
"0000088126"	"0000140688"
"0000088127"	"0000140689"
"0000088127"	"0000140740"
"0000088128"	"0000140697"
"0000088129"	"0000140698"
"0000088130"	"0000140699"
"0000088131"	"0000140700"
"0000088132"	"0000140701"
"0000088133"	"0000140702"
"0000088133"	"0000140726"
"0000088134"	"0000140703"
"0000088134"	"0000140727"
"0000088135"	"0000140704"
"0000088136"	"0000140705"
"0000088137"	"0000140706"
"0000088138"	"0000140707"
"0000088139"	"0000140708"
"0000088140"	"0000140709"
"0000088141"	"0000140710"
"0000088142"	"0000140711"
"0000088143"	"0000140713"
"0000088144"	"0000140719"
"0000088144"	"0000140729"
"0000088145"	"0000140720"
"0000088145"	"0000140730"
"0000088146"	"0000140721"
"0000088146"	"0000140741"
"0000088147"	"0000140722"
"0000088147"	"0000140742"
"0000088148"	"0000140723"
"0000088148"	"0000140743"
"0000088149"	"0000140724"
"0000088149"	"0000140744"
"0000088150"	"0000140728"
"0000088150"	"0000140745"
"0000088151"	"0000140725"
"0000088151"	"0000140746"
"0000088152"	"0000140731"
"0000088153"	"0000140732"
"0000088154"	"0000140733"
"0000088155"	"0000140747"
"0000088156"	"0000140748"
"0000088157"	"0000140749"
"0000088158"	"0000140750"
"0000088159"	"0000140751"
"0000088160"	"0000140752"
"0000088161"	"0000140753"
"0000088162"	"0000140754"
"0000088163"	"0000140755"
"0000088164"	"0000140756"
"0000088165"	"0000140757"
"0000088166"	"0000140758"
"0000088167"	"0000140759"
"0000088168"	"0000140760"
"0000088169"	"0000140761"
"0000088170"	"0000140762"
"0000088171"	"0000140763"
"0000088172"	"0000140764"
"0000088173"	"0000140765"
"0000088174"	"0000140766"
"0000088175"	"0000140661"
"0000088175"	"0000140664"
"0000088176"	"0000140651"
"0000088177"	"0000140652"
"0000088178"	"0000140653"
"0000088179"	"0000140654"
"0000088180"	"0000140655"
"0000088181"	"0000140656"
"0000088182"	"0000140657"
"0000088183"	"0000140658"
"0000088184"	"0000140659"
"0000088185"	"0000140660"
"0000088186"	"0000140636"
"0000088187"	"0000140637"
"0000088188"	"0000140638"
"0000088189"	"0000140674"
"0000088190"	"0000140675"
"0000088191"	"0000140676"
"0000088192"	"0000140687"
"0000088193"	"0000140714"
"0000096334"	"0000158327"
"0000100487"	"0000162786"
"0000100509"	"0000162808"
"0000156402"	"0000358324"
"0000156403"	"0000358325"
"0000156404"	"0000358326"
"0000156405"	"0000358327"
"0000156405"	"0000358451"
"0000156406"	"0000358328"
"0000291928"	"0000648617"
"0000310488"	"0000685399"
"0000310489"	"0000685400"
"0000310490"	"0000685401"
"0000310491"	"0000685402"
"0000310492"	"0000685403"
"0000310493"	"0000685404"
"0000310494"	"0000685405"
"0000310496"	"0000685407"
"0000310497"	"0000685408"
"0000310498"	"0000685409"
"0000310499"	"0000685410"
"0000310500"	"0000685411"
"0000310501"	"0000685412"
"0000310502"	"0000685413"
"0000326623"	"0000710215"
"0000326623"	"0000710331"
"0000326640"	"0000710232"
"0000333200"	"0000730624"
"0000336115"	"0000735166"
"0000336672"	"0000736157"
"0000360341"	"0000760233"
"0000375123"	"0000786418"
"0000378706"	"0000791555"
"0000378706"	"0000791566"
"0000380718"	"0000793887"
"0000380718"	"0000793888"
"0000382236"	"0000795952"
"0000382823"	"0000796694"
"0000382938"	"0000796909"
"0000383805"	"0000798063"
"0000383999"	"0000798411"
"0000385270"	"0000812231"
"0000385285"	"0000812255"
"0000385285"	"0000812256"
"0000387208"	"0000815088"
"0000387422"	"0000815433"
"0000387447"	"0000815479"
"0000387453"	"0000815491"
"0000387463"	"0000815347"
"0000388850"	"0000817627"
"0000390335"	"0000819680"
"0000390596"	"0000819941"
"0000391273"	"0000821009"
"0000392447"	"0000822738"
"0000392448"	"0000822739"
"0000395036"	"0000826198"
"0000395036"	"0000826199"
"0000415186"	"0000872942"
"0000415192"	"0000872948"
"0000415193"	"0000872949"
"0000415194"	"0000872950"
"0000415195"	"0000872951"
"0000415196"	"0000872952"
"0000415197"	"0000872953"
"0000415198"	"0000872954"
"0000415199"	"0000872955"
"0000415200"	"0000872956"
"0000415201"	"0000872957"
"0000415202"	"0000872958"
"0000415212"	"0000872969"
"0000415213"	"0000872970"
"0000415214"	"0000872971"
"0000415214"	"0000872972"
"0000415242"	"0000873001"
"0000415243"	"0000873002"
"0000415244"	"0000873003"
"0000415245"	"0000873004"
"0000415246"	"0000873005"
"0000415247"	"0000873006"
"0000415248"	"0000873007"
"0000415251"	"0000873010"
"0000415252"	"0000873011"
"0000415253"	"0000873012"
"0000415254"	"0000873013"
"0000415255"	"0000873014"
"0000415258"	"0000873016"
"0000415258"	"0000873020"
"0000415259"	"0000873017"
"0000415260"	"0000873018"
"0000415261"	"0000873019"
"0000415261"	"0000873021"
"0000415262"	"0000873023"
"0000415294"	"0000873056"
"0000415295"	"0000873057"
"0000415295"	"0000873060"
"0000415296"	"0000873058"
"0000415296"	"0000873061"
"0000424637"	"0000900719"
"0000424638"	"0000900720"
"0000424639"	"0000900721"
"0000424640"	"0000900722"
"0000424641"	"0000900723"
"0000424642"	"0000900724"
"0000424643"	"0000900725"
"0000424644"	"0000900726"
"0000425325"	"0000902030"
"0000425325"	"0000902055"
"0000425326"	"0000902031"
"0000425326"	"0000902056"
"0000425327"	"0000902032"
"0000425327"	"0000902057"
"0000425328"	"0000902033"
"0000425328"	"0000902058"
"0000425329"	"0000902034"
"0000425329"	"0000902059"
"0000425330"	"0000902035"
"0000425331"	"0000902036"
"0000425332"	"0000902037"
"0000425333"	"0000902038"
"0000425334"	"0000902039"
"0000425335"	"0000902040"
"0000425336"	"0000902041"
"0000425337"	"0000902042"
"0000425337"	"0000902060"
"0000425338"	"0000902043"
"0000425338"	"0000902061"
"0000425339"	"0000902044"
"0000425339"	"0000902062"
"0000425340"	"0000902045"
"0000425341"	"0000902046"
"0000425341"	"0000902063"
"0000425342"	"0000902047"
"0000425342"	"0000902064"
"0000425343"	"0000902048"
"0000425343"	"0000902065"
"0000425344"	"0000902049"
"0000425345"	"0000902050"
"0000425346"	"0000902051"
"0000425346"	"0000902066"
"0000425347"	"0000902052"
"0000425348"	"0000902053"
"0000425349"	"0000902054"
"0000436572"	"0000927593"
"0000452580"	"0000986563"
"0000452814"	"0000987330"