### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = MAK)
# 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}}"
"MAK"	"male germ cell-associated kinase"	"6"	"q22"	"unknown"	"NG_030040.1"	"UD_132438627001"	""	"https://www.LOVD.nl/MAK"	""	"1"	"6816"	"4117"	"154235"	"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 performed by Johan den Dunnen, supported by <a href=\'http://www.variome.org\' target=\'_blank\'>Global Variome</a>."	""	"g"	"https://databases.lovd.nl/shared/refseq/MAK_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>"	"-1"	""	"-1"	"00001"	"2012-07-13 00:00:00"	"00006"	"2020-08-31 19:45:05"	"00006"	"2025-04-07 13:47:05"


## 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}}"
"00011700"	"MAK"	"transcript variant 1"	"001"	"NM_005906.4"	""	"NP_005897.1"	""	""	""	"-282"	"3601"	"1872"	"10838788"	"10762956"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 5
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00006"	"IVA"	"isovaleric acidemia (IVA)"	"AR"	"243500"	""	""	""	"00001"	"2012-06-15 15:58:49"	"00001"	"2021-07-01 15:09:07"
"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"
"03572"	"RP62"	"retinitis pigmentosa, type 62 (RP62)"	"AR"	"614181"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"MAK"	"03572"


## Individuals ## Do not remove or alter this header ##
## Count = 174
"{{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}}"
"00000130"	""	""	""	"1"	""	"00001"	"{PMID:Vockley et al (2000):10677295}"	"Other IVD allele unknown; no RNA detected but no second variant found in exon region or exon/intron boundaries."	""	""	""	""	""	""	""	""	""
"00155494"	""	""	""	"1"	""	"01243"	"{PMID:Sharon 2019:31456290}"	""	"F"	"no"	"Israel"	""	"0"	""	""	"Jewish-Ashkenazi"	""
"00155495"	""	""	""	"3"	""	"01243"	"{PMID:Ozgul 2011:21835304}, {PMID:Sharon 2019:31456290}"	"2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents"	"F"	"yes"	"Israel"	""	"0"	""	""	"Jewish-Oriental"	"MOL0708PatII4"
"00232638"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232639"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232640"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232641"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232642"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232643"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232644"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232645"	""	""	""	"3"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232646"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232647"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232648"	""	""	""	"10"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232649"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232650"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232651"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232652"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232653"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232654"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232655"	""	""	""	"3"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232656"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232657"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232658"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232659"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232660"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232661"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1203  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232662"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232663"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232664"	""	""	""	"4"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232665"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232666"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232667"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1203  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233683"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00293947"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00293948"	""	""	""	"77"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00299641"	""	""	""	"1"	""	"00006"	"{PMID:Arno 2017:28132693}"	"2-generation family, 1 affeted"	"M"	""	""	""	"0"	""	""	""	"FamGC3626Pat2"
"00305047"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00309217"	""	""	""	"2"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"2 IRD families"	""	""	"Israel"	""	"0"	""	""	""	""
"00309218"	""	""	""	"2"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"2 IRD families"	""	""	"Israel"	""	"0"	""	""	""	""
"00309219"	""	""	""	"1"	""	"00004"	"{PMID:Kimchi 2018:29276052}, {PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	"TB320"
"00309682"	""	""	""	"1"	""	"00006"	"{PMID:Tucker 2011:21825139}"	""	""	""	"United States"	""	"0"	""	""	"Jewish"	"patient"
"00309683"	""	""	""	"21"	""	"00006"	"{PMID:Tucker 2011:21825139}"	"analysis 1,798 unrelated RP individuals; one family Turkey/Russia parents"	""	""	""	""	"0"	""	""	"Jewish"	""
"00309684"	""	""	""	"1"	""	"00006"	"{PMID:Tucker 2011:21825139}"	""	""	""	""	""	"0"	""	""	""	"patient"
"00309685"	""	""	""	"1"	""	"00006"	"{PMID:Tucker 2011:21825139}"	""	""	""	""	""	"0"	""	""	""	"patient"
"00309692"	""	""	""	"1"	""	"00006"	"{PMID:Ozgul 2011:21835304}"	"4-generation family, 1 affected, unaffected parents"	"F"	""	"Turkey"	""	"0"	""	""	""	"FamRP-2011"
"00309693"	""	""	""	"5"	""	"00006"	"{PMID:Ozgul 2011:21835304}"	"2-generation family, 5 affected (2F, 3M), unaffected heterozygous carrier parents/relatives"	"F;M"	"yes"	"Netherlands"	""	"0"	""	""	""	"Fam009539"
"00309694"	""	""	""	"1"	""	"00006"	"{PMID:Ozgul 2011:21835304}"	"2-generation family, 1 affected, unaffected parents"	"F"	"yes"	"Netherlands"	""	"0"	""	""	""	"Fam027775"
"00309695"	""	""	""	"1"	""	"00006"	"{PMID:Ozgul 2011:21835304}"	"2-generation family, 1 affected, unaffected parents"	"F"	""	"Netherlands"	""	"0"	""	""	""	"Fam038230"
"00309696"	""	""	""	"1"	""	"00006"	"{PMID:Ozgul 2011:21835304}"	"2-generation family, 1 affected, unaffected parents"	"F"	""	"Netherlands"	""	"0"	""	""	""	"Fam012115"
"00309697"	""	""	""	"1"	""	"00006"	"{PMID:Ozgul 2011:21835304}"	""	""	""	"Netherlands"	""	"0"	""	""	""	"Pat050135"
"00309698"	""	""	""	"1"	""	"00006"	"{PMID:Stone 2011:22110072}"	""	"M"	""	"United States"	""	"0"	""	""	""	"Pat1"
"00309699"	""	""	""	"1"	""	"00006"	"{PMID:Stone 2011:22110072}"	""	"M"	""	"United States"	""	"0"	""	""	""	"Pat2"
"00309700"	""	""	""	"1"	""	"00006"	"{PMID:Stone 2011:22110072}"	""	"M"	""	"United States"	""	"0"	""	""	""	"Pat3"
"00309701"	""	""	""	"2"	""	"00006"	"{PMID:Stone 2011:22110072}"	"family, 2 affected sibs"	"M"	""	"United States"	""	"0"	""	""	""	"Pat4/Pat13"
"00309702"	""	""	""	"1"	""	"00006"	"{PMID:Stone 2011:22110072}"	""	"M"	""	"United States"	""	"0"	""	""	""	"Pat5"
"00309703"	""	""	""	"1"	""	"00006"	"{PMID:Stone 2011:22110072}"	""	"M"	""	"United States"	""	"0"	""	""	""	"Pat6"
"00309704"	""	""	""	"1"	""	"00006"	"{PMID:Stone 2011:22110072}"	""	"M"	""	"United States"	""	"0"	""	""	""	"Pat7"
"00309705"	""	""	""	"1"	""	"00006"	"{PMID:Stone 2011:22110072}"	""	"M"	""	"United States"	""	"0"	""	""	""	"Pat8"
"00309706"	""	""	""	"1"	""	"00006"	"{PMID:Stone 2011:22110072}"	""	"M"	""	"United States"	""	"0"	""	""	""	"Pat9"
"00309707"	""	""	""	"1"	""	"00006"	"{PMID:Stone 2011:22110072}"	""	"M"	""	"United States"	""	"0"	""	""	""	"Pat10"
"00309708"	""	""	""	"1"	""	"00006"	"{PMID:Stone 2011:22110072}"	""	"M"	""	"United States"	""	"0"	""	""	""	"Pat11"
"00309709"	""	""	""	"2"	""	"00006"	"{PMID:Stone 2011:22110072}"	"family, 2 affected 3rd-cousins"	"F"	""	"United States"	""	"0"	""	""	""	"Pat12/Pat16"
"00309710"	""	""	""	"1"	""	"00006"	"{PMID:Stone 2011:22110072}"	""	"M"	""	"United States"	""	"0"	""	""	""	"Pat14"
"00309711"	""	""	""	"1"	""	"00006"	"{PMID:Stone 2011:22110072}"	""	"F"	""	"United States"	""	"0"	""	""	""	"Pat15"
"00309712"	""	""	""	"1"	""	"00006"	"{PMID:Stone 2011:22110072}"	""	"F"	""	"United States"	""	"0"	""	""	""	"Pat17"
"00309713"	""	""	""	"1"	""	"00006"	"{PMID:Stone 2011:22110072}"	""	"F"	""	"United States"	""	"0"	""	""	""	"Pat18"
"00309714"	""	""	""	"1"	""	"00006"	"{PMID:Stone 2011:22110072}"	""	"M"	""	"United States"	""	"0"	""	""	""	"Pat19"
"00309715"	""	""	""	"1"	""	"00006"	"{PMID:Stone 2011:22110072}"	""	"M"	""	"United States"	""	"0"	""	""	""	"Pat20"
"00309716"	""	""	""	"1"	""	"00006"	"{PMID:Stone 2011:22110072}"	""	"F"	""	"United States"	""	"0"	""	""	""	"Pat21"
"00309717"	""	""	""	"1"	""	"00006"	"{PMID:Stone 2011:22110072}"	""	"F"	""	"United States"	""	"0"	""	""	""	"Pat22"
"00309718"	""	""	""	"1"	""	"00006"	"{PMID:Stone 2011:22110072}"	""	"M"	""	"United States"	""	"0"	""	""	""	"Pat23"
"00309719"	""	""	""	"1"	""	"00006"	"{PMID:Stone 2011:22110072}"	""	"M"	""	"United States"	""	"0"	""	""	""	"Pat24"
"00309720"	""	""	""	"8"	""	"00006"	"{PMID:Kimchi 2018:29276052}, {PMID:Sharon 2019:31456290}"	"8 families"	""	""	"Israel"	""	"0"	""	""	"Ashkenazi-Jewish"	""
"00309734"	""	""	""	"1"	""	"00006"	"{PMID:Lai 2016:26894652}"	""	"M"	""	"United States"	""	"0"	""	""	"Jewish-Ashkenazi "	"patient"
"00309735"	""	""	""	"1"	""	"00006"	"{PMID:Venturini 2015:25255364}, {PMID:Bujakowska 2015:26558903}"	""	""	""	"Hungary;Austria;United States;Russia"	""	"0"	""	""	"Jewish"	"Pat003-321"
"00309736"	""	""	""	"1"	""	"00006"	"{PMID:Venturini 2015:25255364}, {PMID:Bujakowska 2015:26558903}"	""	""	""	"United States"	""	"0"	""	""	"Jewish"	"Pat121-216"
"00309737"	""	""	""	"1"	""	"00006"	"{PMID:Venturini 2015:25255364}, {PMID:Bujakowska 2015:26558903}"	""	""	""	"Russia;Poland;England"	""	"0"	""	""	"Jewish"	"Pat121-410"
"00309738"	""	""	""	"1"	""	"00006"	"{PMID:Venturini 2015:25255364}, {PMID:Bujakowska 2015:26558903}"	""	""	""	"Poland;Israel"	""	"0"	""	""	"Jewish"	"Pat003-370"
"00309739"	""	""	""	"1"	""	"00006"	"{PMID:Venturini 2015:25255364}, {PMID:Bujakowska 2015:26558903}"	""	""	""	"United States"	""	"0"	""	""	"Jewish"	"Pat121-122"
"00309740"	""	""	""	"1"	""	"00006"	"{PMID:Venturini 2015:25255364}, {PMID:Bujakowska 2015:26558903}"	""	""	""	"Hungary;Russia"	""	"0"	""	""	"Jewish"	"Pat003-213"
"00309741"	""	""	""	"1"	""	"00006"	"{PMID:Venturini 2015:25255364}, {PMID:Bujakowska 2015:26558903}"	""	""	""	"United States"	""	"0"	""	""	"Jewish"	"Pat003-033"
"00309742"	""	""	""	"1"	""	"00006"	"{PMID:Venturini 2015:25255364}, {PMID:Bujakowska 2015:26558903}"	""	""	""	"United States"	""	"0"	""	""	"Jewish"	"Pat121-184"
"00309743"	""	""	""	"1"	""	"00006"	"{PMID:Venturini 2015:25255364}, {PMID:Bujakowska 2015:26558903}"	""	""	""	"United States"	""	"0"	""	""	"Jewish"	"Pat121-147"
"00309744"	""	""	""	"1"	""	"00006"	"{PMID:Venturini 2015:25255364}, {PMID:Bujakowska 2015:26558903}"	""	""	""	"Lithuania;Poland"	""	"0"	""	""	"Jewish"	"Pat121-265"
"00309745"	""	""	""	"1"	""	"00006"	"{PMID:Venturini 2015:25255364}, {PMID:Bujakowska 2015:26558903}"	""	""	""	"United States"	""	"0"	""	""	"Jewish"	"Pat121-470"
"00309746"	""	""	""	"1"	""	"00006"	"{PMID:Venturini 2015:25255364}, {PMID:Bujakowska 2015:26558903}"	""	""	""	"United States"	""	"0"	""	""	"Jewish"	"Pat121-283"
"00309747"	""	""	""	"1"	""	"00006"	"{PMID:Venturini 2015:25255364}, {PMID:Bujakowska 2015:26558903}"	""	""	""	"United States"	""	"0"	""	""	"Jewish"	"Pat121-847"
"00309748"	""	""	""	"1"	""	"00006"	"{PMID:Venturini 2015:25255364}, {PMID:Bujakowska 2015:26558903}"	""	""	""	"Russia;Romania"	""	"0"	""	""	"Jewish"	"Pat003-287"
"00309754"	""	""	""	"1"	""	"00006"	"{PMID:Gray 2018:29781741}"	"4-generation family, 1 affected"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"patient"
"00309780"	""	""	""	"1"	""	"00006"	"{PMID:Kimchi 2018:29276052}"	""	""	""	""	""	"0"	""	""	"Jewish-Ashkenazi "	"MOL0225"
"00309781"	""	""	""	"1"	""	"00006"	"{PMID:Kimchi 2018:29276052}"	""	""	""	""	""	"0"	""	""	"Jewish-Ashkenazi "	"MOL0567"
"00309782"	""	""	""	"1"	""	"00006"	"{PMID:Kimchi 2018:29276052}"	""	""	""	""	""	"0"	""	""	"Jewish-Ashkenazi "	"MOL0717"
"00309783"	""	""	""	"1"	""	"00006"	"{PMID:Kimchi 2018:29276052}"	""	""	""	""	""	"0"	""	""	"Jewish-Ashkenazi "	"MOL0746"
"00309784"	""	""	""	"1"	""	"00006"	"{PMID:Kimchi 2018:29276052}"	""	""	""	""	""	"0"	""	""	"Jewish-Ashkenazi "	"MOL0748"
"00309785"	""	""	""	"1"	""	"00006"	"{PMID:Kimchi 2018:29276052}"	""	""	""	""	""	"0"	""	""	"Jewish-Ashkenazi "	"MOL0848"
"00309786"	""	""	""	"1"	""	"00006"	"{PMID:Kimchi 2018:29276052}"	""	""	""	""	""	"0"	""	""	"Jewish-Ashkenazi "	"MOL0854"
"00309787"	""	""	""	"1"	""	"00006"	"{PMID:Kimchi 2018:29276052}"	""	""	""	""	""	"0"	""	""	"Jewish-Ashkenazi "	"MOL1007"
"00309788"	""	""	""	"1"	""	"00006"	"{PMID:Kimchi 2018:29276052}"	""	""	""	""	""	"0"	""	""	"Jewish-Ashkenazi "	"MOL1165"
"00309789"	""	""	""	"1"	""	"00006"	"{PMID:Kimchi 2018:29276052}"	""	""	""	""	""	"0"	""	""	"Jewish-Ashkenazi "	"MOL1243"
"00309790"	""	""	""	"1"	""	"00006"	"{PMID:Kimchi 2018:29276052}"	""	""	""	""	""	"0"	""	""	"Jewish-Ashkenazi "	"MOL1284"
"00309791"	""	""	""	"1"	""	"00006"	"{PMID:Kimchi 2018:29276052}"	""	""	""	""	""	"0"	""	""	"Jewish-Ashkenazi "	"MOL1288"
"00309792"	""	""	""	"1"	""	"00006"	"{PMID:Kimchi 2018:29276052}"	""	""	""	""	""	"0"	""	""	"Jewish-Ashkenazi "	"MOL1364"
"00309793"	""	""	""	"1"	""	"00006"	"{PMID:Kimchi 2018:29276052}"	""	""	""	""	""	"0"	""	""	"Jewish-Ashkenazi "	"MOL1385"
"00309794"	""	""	""	"1"	""	"00006"	"{PMID:Kimchi 2018:29276052}"	""	""	""	""	""	"0"	""	""	"Jewish-Ashkenazi "	"MOL1408"
"00309795"	""	""	""	"1"	""	"00006"	"{PMID:Kimchi 2018:29276052}"	""	""	""	""	""	"0"	""	""	"Jewish-Ashkenazi "	"TB116"
"00309796"	""	""	""	"1"	""	"00006"	"{PMID:Kimchi 2018:29276052}"	""	""	""	""	""	"0"	""	""	"Jewish-Ashkenazi "	"TB163"
"00309797"	""	""	""	"1"	""	"00006"	"{PMID:Kimchi 2018:29276052}"	""	""	""	""	""	"0"	""	""	"Jewish-Ashkenazi "	"TB168"
"00309798"	""	""	""	"1"	""	"00006"	"{PMID:Kimchi 2018:29276052}"	""	""	""	""	""	"0"	""	""	"Jewish-Ashkenazi "	"TB197"
"00309799"	""	""	""	"1"	""	"00006"	"{PMID:Kimchi 2018:29276052}"	""	""	""	""	""	"0"	""	""	"Jewish-Ashkenazi "	"TB208"
"00309800"	""	""	""	"1"	""	"00006"	"{PMID:Kimchi 2018:29276052}"	""	""	""	""	""	"0"	""	""	"Jewish-Ashkenazi "	"TB248"
"00309801"	""	""	""	"1"	""	"00006"	"{PMID:Kimchi 2018:29276052}"	""	""	""	""	""	"0"	""	""	"Jewish-Ashkenazi "	"MOL0965"
"00309802"	""	""	""	"1"	""	"00006"	"{PMID:Kimchi 2018:29276052}"	""	""	""	""	""	"0"	""	""	"Jewish-Ashkenazi "	"TB347"
"00309803"	""	""	""	"1"	""	"00006"	"{PMID:Kimchi 2018:29276052}"	""	""	""	""	""	"0"	""	""	"Jewish-Ashkenazi "	"TB371"
"00309804"	""	""	""	"1"	""	"00006"	"{PMID:Kimchi 2018:29276052}"	""	""	""	""	""	"0"	""	""	"Jewish-Ashkenazi "	"TB453"
"00331280"	""	""	""	"1"	""	"00000"	"{PMID:Maeda 2018:29785639}"	"patient, no family history"	"M"	""	"Japan"	""	"0"	""	""	""	"Pat34"
"00332193"	""	""	""	"1"	""	"00000"	"{PMID:Bryant 2018:29343940}"	""	""	""	"United States"	""	"0"	""	""	""	"JB274"
"00333842"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"40"
"00333843"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"41"
"00333844"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"42"
"00333845"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"43"
"00333907"	""	""	""	"2"	""	"00000"	"{PMID:Stone 2017:28559085}"	"family, 2 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"274"
"00333908"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"275"
"00333909"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"276"
"00362917"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2016:26766544}"	"family"	""	""	"Germany"	""	"0"	""	""	""	"ARRP230"
"00363870"	""	""	""	"1"	""	"01243"	"{PMID:Sharon 2015:26261414}, {PMID:Beryozkin 2015:26306921}, {PMID:Sharon 2019:31456290}"	""	""	""	"Israel"	""	"0"	""	""	"Jewish-Ashkenazi"	"MOL0826"
"00372628"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"family"	"F"	""	"China"	""	"0"	""	""	""	"RP373"
"00372674"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"family"	"M"	""	"China"	""	"0"	""	""	""	"RP101"
"00372675"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"patient"	"M"	""	"China"	""	"0"	""	""	""	"RP298"
"00374921"	""	""	""	"1"	""	"00000"	"{PMID:Huang 2015:25356976}"	""	"F"	""	"China"	""	"0"	""	""	""	"H3-1"
"00375333"	""	""	""	"1"	""	"00000"	"{PMID:Oishi 2014:25324289}"	"family"	""	""	"Japan"	""	"0"	""	""	""	"K6197"
"00375334"	""	""	""	"1"	""	"00000"	"{PMID:Oishi 2014:25324289}"	"family"	""	""	"Japan"	""	"0"	""	""	""	"K6311"
"00375335"	""	""	""	"1"	""	"00000"	"{PMID:Oishi 2014:25324289}"	"simplex case"	""	""	"Japan"	""	"0"	""	""	""	"K6401"
"00375415"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2014:25268133}"	"family"	""	""	"Japan"	""	"0"	""	""	""	"RP#007"
"00376753"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"F"	""	"United States"	""	"0"	""	""	""	"13"
"00376757"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"F"	""	"United States"	""	"0"	""	""	""	"17"
"00376758"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"M"	""	"United States"	""	"0"	""	""	""	"18"
"00376759"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"M"	""	"United States"	""	"0"	""	""	""	"19"
"00376765"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"F"	""	"United States"	""	"0"	""	""	""	"27"
"00376767"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"M"	""	"United States"	""	"0"	""	""	""	"29"
"00376793"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"F"	""	"United States"	""	"0"	""	""	""	"60"
"00377179"	""	""	""	"1"	""	"00000"	"Tracewska 2021, MolVis in press"	"proband"	"M"	"no"	"Poland"	""	"0"	"yes"	""	"Slavic"	"248"
"00377514"	""	""	""	"1"	""	"00000"	"{PMID:Hosono 2018:29844330}"	"proband, family EYE17"	"F"	"no"	"Japan"	""	"0"	""	""	"Asian"	"EYE17"
"00378057"	""	""	""	"1"	""	"03508"	""	""	"F"	""	"Korea, South (Republic)"	""	""	""	""	""	"IR_SS_0037"
"00382321"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"150"
"00382602"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"465"
"00383846"	""	""	""	"1"	""	"00000"	"{PMID:Hariri 2018:31047384}"	""	"?"	""	""	""	"0"	""	""	""	""
"00383944"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-0825"
"00384085"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-2175"
"00384151"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-2713"
"00385841"	""	""	""	"1"	""	"00000"	"{PMID:Cho 2020:32000842}"	""	"M"	""	"(United States)"	""	"0"	""	""	""	"16"
"00385842"	""	""	""	"1"	""	"00000"	"{PMID:Cho 2020:32000842}"	""	"M"	""	"(United States)"	""	"0"	""	""	""	"17"
"00385843"	""	""	""	"1"	""	"00000"	"{PMID:Cho 2020:32000842}"	""	"M"	""	"(United States)"	""	"0"	""	""	""	"18"
"00385844"	""	""	""	"1"	""	"00000"	"{PMID:Cho 2020:32000842}"	""	"M"	""	"(United States)"	""	"0"	""	""	""	"19"
"00385845"	""	""	""	"1"	""	"00000"	"{PMID:Cho 2020:32000842}"	""	"M"	""	"(United States)"	""	"0"	""	""	""	"20"
"00386206"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RPN-326"
"00386899"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"OGI2969_004554"
"00387056"	""	""	""	"1"	""	"00000"	"{PMID:Jauregui 2020:32098976}"	""	"M"	""	"(United States)"	""	"0"	""	""	"white"	"82"
"00387057"	""	""	""	"1"	""	"00000"	"{PMID:Jauregui 2020:32098976}"	""	"M"	""	"(United States)"	""	"0"	""	""	"white"	"83"
"00387058"	""	""	""	"1"	""	"00000"	"{PMID:Jauregui 2020:32098976}"	""	"M"	""	"(United States)"	""	"0"	""	""	"white"	"84"
"00387059"	""	""	""	"1"	""	"00000"	"{PMID:Jauregui 2020:32098976}"	""	"M"	""	"(United States)"	""	"0"	""	""	"white"	"85"
"00388492"	""	""	""	"1"	""	"00000"	"{PMID:Ellingsford 2018:29074561}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"14020104"
"00389357"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 229, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"641"
"00389360"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 230, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"644"
"00389518"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 319, macular dystrophy, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"802"
"00394606"	""	""	""	"1"	""	"00000"	"{PMID:Colombo-2020:33576794}"	""	"M"	"no"	""	""	"0"	""	""	""	""
"00394607"	""	""	""	"1"	""	"00000"	"{PMID:Colombo-2020:33576794}"	""	"M"	"yes"	""	""	"0"	""	""	""	""
"00396610"	""	""	""	"1"	""	"00000"	"{PMID:Numa 2020:33247286}"	""	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00408332"	""	""	""	"1"	""	"00000"	"{PMID:Jacobson 2014:25074776}"	"cousin of P8"	"F"	""	"United States"	""	"0"	""	""	""	"P7"
"00408333"	""	""	""	"1"	""	"00000"	"{PMID:Jacobson 2014:25074776}"	"cousin of P7"	"F"	""	"United States"	""	"0"	""	""	""	"P8"
"00408334"	""	""	""	"1"	""	"00000"	"{PMID:Jacobson 2014:25074776}"	""	"M"	""	"United States"	""	"0"	""	""	""	"P9"
"00430127"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00447010"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"M"	""	"Germany"	""	"0"	""	""	""	"ARRP-476"
"00447329"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"M"	""	"Germany"	""	"0"	""	""	""	"SRP-1288"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 174
"{{individualid}}"	"{{diseaseid}}"
"00000130"	"00006"
"00155494"	"04214"
"00155495"	"04214"
"00232638"	"04214"
"00232639"	"04214"
"00232640"	"04214"
"00232641"	"04214"
"00232642"	"04214"
"00232643"	"04214"
"00232644"	"04214"
"00232645"	"04214"
"00232646"	"04214"
"00232647"	"04214"
"00232648"	"04214"
"00232649"	"04214"
"00232650"	"04214"
"00232651"	"04214"
"00232652"	"04214"
"00232653"	"04214"
"00232654"	"04214"
"00232655"	"04214"
"00232656"	"04214"
"00232657"	"04214"
"00232658"	"04214"
"00232659"	"04214"
"00232660"	"04214"
"00232661"	"04214"
"00232662"	"04214"
"00232663"	"04214"
"00232664"	"04214"
"00232665"	"04214"
"00232666"	"04214"
"00232667"	"04214"
"00233683"	"04214"
"00293947"	"00198"
"00293948"	"00198"
"00299641"	"04214"
"00305047"	"00198"
"00309217"	"04214"
"00309218"	"04214"
"00309219"	"04214"
"00309682"	"04214"
"00309683"	"04214"
"00309684"	"04214"
"00309685"	"04214"
"00309692"	"04214"
"00309693"	"04214"
"00309694"	"04214"
"00309695"	"04214"
"00309696"	"04214"
"00309697"	"04214"
"00309698"	"04214"
"00309699"	"04214"
"00309700"	"04214"
"00309701"	"04214"
"00309702"	"04214"
"00309703"	"04214"
"00309704"	"04214"
"00309705"	"04214"
"00309706"	"04214"
"00309707"	"04214"
"00309708"	"04214"
"00309709"	"04214"
"00309710"	"04214"
"00309711"	"04214"
"00309712"	"04214"
"00309713"	"04214"
"00309714"	"04214"
"00309715"	"04214"
"00309716"	"04214"
"00309717"	"04214"
"00309718"	"04214"
"00309719"	"04214"
"00309720"	"04214"
"00309734"	"04214"
"00309735"	"04214"
"00309736"	"04214"
"00309737"	"04214"
"00309738"	"04214"
"00309739"	"04214"
"00309740"	"04214"
"00309741"	"04214"
"00309742"	"04214"
"00309743"	"04214"
"00309744"	"04214"
"00309745"	"04214"
"00309746"	"04214"
"00309747"	"04214"
"00309748"	"04214"
"00309754"	"04214"
"00309780"	"04214"
"00309781"	"04214"
"00309782"	"04214"
"00309783"	"04214"
"00309784"	"04214"
"00309785"	"04214"
"00309786"	"04214"
"00309787"	"04214"
"00309788"	"04214"
"00309789"	"04214"
"00309790"	"04214"
"00309791"	"04214"
"00309792"	"04214"
"00309793"	"04214"
"00309794"	"04214"
"00309795"	"04214"
"00309796"	"04214"
"00309797"	"04214"
"00309798"	"04214"
"00309799"	"04214"
"00309800"	"04214"
"00309801"	"04214"
"00309802"	"04214"
"00309803"	"04214"
"00309804"	"04214"
"00331280"	"04214"
"00332193"	"04214"
"00333842"	"04214"
"00333843"	"04214"
"00333844"	"04214"
"00333845"	"04214"
"00333907"	"04214"
"00333908"	"04214"
"00333909"	"04214"
"00362917"	"04214"
"00363870"	"04214"
"00372628"	"04214"
"00372674"	"04214"
"00372675"	"04214"
"00374921"	"04214"
"00375333"	"04214"
"00375334"	"04214"
"00375335"	"04214"
"00375415"	"04214"
"00376753"	"04214"
"00376757"	"04214"
"00376758"	"04214"
"00376759"	"04214"
"00376765"	"04214"
"00376767"	"04214"
"00376793"	"04214"
"00377179"	"04214"
"00377514"	"04214"
"00378057"	"00112"
"00382321"	"04214"
"00382602"	"04214"
"00383846"	"04214"
"00383944"	"04214"
"00384085"	"04214"
"00384151"	"04214"
"00385841"	"04214"
"00385842"	"04214"
"00385843"	"04214"
"00385844"	"04214"
"00385845"	"04214"
"00386206"	"04214"
"00386899"	"04214"
"00387056"	"04214"
"00387057"	"04214"
"00387058"	"04214"
"00387059"	"04214"
"00388492"	"04214"
"00389357"	"04214"
"00389360"	"04214"
"00389518"	"04214"
"00394606"	"04214"
"00394607"	"04214"
"00396610"	"04214"
"00408332"	"04214"
"00408333"	"04214"
"00408334"	"04214"
"00430127"	"00112"
"00447010"	"00198"
"00447329"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00006, 00112, 00198, 03572, 04214
## Count = 139
"{{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}}"
"0000127994"	"04214"	"00155494"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000127995"	"04214"	"00155495"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000226951"	"04214"	"00299641"	"00006"	"Familial, autosomal recessive"	"51y"	"see paper; ..., 29y-photopsia (HP:0030786), slightly reduced acuity (HP:0007663), mild nyctalopia (HP:0000662); irregular pigmented lesions in periphery(HP:0007703), pale discs (HP:0000543), cystoid macular edema (HP:0011505), peripheral telangiectasia (HP:0007763) with some retinal edema (HP:0020120) and vitreous cells (HP:0004327), possible para-arteriolar sparing; 29y-ERG no identifiable responses other than a minimal, delayed response to 30Hz flicker (PERG, EOG and ERG tested), severe photoreceptor dysfunction; 29y-colour vision Ishihara 15/15 each eye; 29y-Goldmann visual fields ring scotoma at 30 degrees, binocular Esterman age 36: central 20 degrees only retained; presenting VA logMAR (Snellen) R 0.48 (20/60), L 0.3 (20/40); latest VA logMAR R 1.8 (20/1250), L 1.5 (20/630); latest refractive error, dioptres R -1.00/-1.00x5, L +0.75/-1.00x90"	"29y"	""	""	""	""	""	""	""	"RP78"	"retinitis pigmentosa"	""
"0000234537"	"04214"	"00309217"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000234538"	"04214"	"00309218"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000234539"	"04214"	"00309219"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235001"	"04214"	"00309682"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235002"	"04214"	"00309683"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000235003"	"04214"	"00309684"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235004"	"04214"	"00309685"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235005"	"04214"	"00309692"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235006"	"04214"	"00309693"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235007"	"04214"	"00309694"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235008"	"04214"	"00309695"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235009"	"04214"	"00309696"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235010"	"04214"	"00309697"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235011"	"04214"	"00309698"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235012"	"04214"	"00309699"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235013"	"04214"	"00309700"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235014"	"04214"	"00309701"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235015"	"04214"	"00309702"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235016"	"04214"	"00309703"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235017"	"04214"	"00309704"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235018"	"04214"	"00309705"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235019"	"04214"	"00309706"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235020"	"04214"	"00309707"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235021"	"04214"	"00309708"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235022"	"04214"	"00309709"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235023"	"04214"	"00309710"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235024"	"04214"	"00309711"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235025"	"04214"	"00309712"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235026"	"04214"	"00309713"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235027"	"04214"	"00309714"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235028"	"04214"	"00309715"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235029"	"04214"	"00309716"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235030"	"04214"	"00309717"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235031"	"04214"	"00309718"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235032"	"04214"	"00309719"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235033"	"04214"	"00309720"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235042"	"04214"	"00309734"	"00006"	"Familial, autosomal recessive"	"41y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235044"	"04214"	"00309735"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235045"	"04214"	"00309736"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235046"	"04214"	"00309737"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235047"	"04214"	"00309738"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235048"	"04214"	"00309739"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235049"	"04214"	"00309740"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235050"	"04214"	"00309741"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235051"	"04214"	"00309742"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235052"	"04214"	"00309743"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235053"	"04214"	"00309744"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235054"	"04214"	"00309745"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235055"	"04214"	"00309746"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235056"	"04214"	"00309747"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235057"	"04214"	"00309748"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235063"	"04214"	"00309754"	"00006"	"Familial, autosomal recessive"	"75y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235090"	"04214"	"00309780"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235091"	"04214"	"00309781"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235092"	"04214"	"00309782"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235093"	"04214"	"00309783"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235094"	"04214"	"00309784"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235095"	"04214"	"00309785"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235096"	"04214"	"00309786"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235097"	"04214"	"00309787"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235098"	"04214"	"00309788"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235099"	"04214"	"00309789"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235100"	"04214"	"00309790"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235101"	"04214"	"00309791"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235102"	"04214"	"00309792"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235103"	"04214"	"00309793"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235104"	"04214"	"00309794"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235105"	"04214"	"00309795"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235106"	"04214"	"00309796"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235107"	"04214"	"00309797"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235108"	"04214"	"00309798"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235109"	"04214"	"00309799"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235110"	"04214"	"00309800"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235111"	"04214"	"00309801"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235112"	"04214"	"00309802"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235113"	"04214"	"00309803"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235114"	"04214"	"00309804"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000249474"	"04214"	"00331280"	"00000"	"Familial, autosomal recessive"	"63y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000250380"	"04214"	"00332193"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000252027"	"04214"	"00333842"	"00000"	"Familial, autosomal recessive"	"57y"	"clinical category IA1a"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252028"	"04214"	"00333843"	"00000"	"Familial, autosomal recessive"	"58y"	"clinical category IA1a"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252029"	"04214"	"00333844"	"00000"	"Familial, autosomal recessive"	"62y"	"clinical category IA1a"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa (with MAK signs)"	""
"0000252030"	"04214"	"00333845"	"00000"	"Familial, autosomal recessive"	"75y"	"clinical category IA1a"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252092"	"04214"	"00333907"	"00000"	"Familial, autosomal recessive"	"55y"	"clinical category IA1aiii"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa (with MAK signs)"	""
"0000252093"	"04214"	"00333908"	"00000"	"Familial, autosomal recessive"	"78y"	"clinical category IA1aiii"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa (with MAK signs)"	""
"0000252094"	"04214"	"00333909"	"00000"	"Familial, autosomal recessive"	"79y"	"clinical category IA1aiii"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000258283"	"04214"	"00362917"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000259209"	"04214"	"00363870"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267907"	"04214"	"00372628"	"00000"	"Familial, autosomal dominant"	"45y"	"see paper; ..."	"12y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267953"	"04214"	"00372674"	"00000"	"Familial, autosomal recessive"	"34y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267954"	"04214"	"00372675"	"00000"	"Familial, autosomal recessive"	"33y"	"see paper; ..."	"28y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270131"	"04214"	"00374921"	"00000"	"Isolated (sporadic)"	"34y"	"best corrected visual acuity 1/1.2"	"20y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270547"	"04214"	"00375333"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270548"	"04214"	"00375334"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270549"	"04214"	"00375335"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270629"	"04214"	"00375415"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000271964"	"04214"	"00376753"	"00000"	"Familial, autosomal recessive"	"48y"	""	""	""	""	""	""	""	""	""	""	"Decreased peripheral vision, photophobia, difficult light-to-dark adaptation, night blindness"	""
"0000271968"	"04214"	"00376757"	"00000"	"Familial, autosomal recessive"	"77y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000271969"	"04214"	"00376758"	"00000"	"Familial, autosomal recessive"	"76y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000271970"	"04214"	"00376759"	"00000"	"Familial, autosomal recessive"	"68y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000271976"	"04214"	"00376765"	"00000"	"Familial, autosomal recessive"	"39y"	""	""	""	""	""	""	""	""	""	""	"Nyctalopia, decreased peripheral vision, history of plaquenil"	""
"0000271978"	"04214"	"00376767"	"00000"	"Familial, autosomal recessive"	"36y"	""	""	""	""	""	""	""	""	""	""	"Usher syndrome"	""
"0000272004"	"04214"	"00376793"	"00000"	"Unknown"	"7y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000272337"	"04214"	"00377179"	"00000"	"Familial, autosomal recessive"	"35y"	"see paper"	"16y6m"	"34y"	""	""	""	""	""	""	""	"retinal disease"	""
"0000272664"	"04214"	"00377514"	"00000"	"Isolated (sporadic)"	""	"see paper"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"retinal disease"	""
"0000273199"	"00112"	"00378057"	"03508"	"Familial, autosomal recessive"	""	"HP:0032037, HP:0000662, HP:0001133, HP:0000510"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP)"	""
"0000276170"	"04214"	"00382321"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276451"	"04214"	"00382602"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000277631"	"04214"	"00383846"	"00000"	"Familial, autosomal recessive"	"68y"	"BCVA OD-OS: 20/30-20/30"	""	"67y"	""	""	""	""	""	""	""	""	""
"0000277729"	"04214"	"00383944"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277870"	"04214"	"00384085"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277936"	"04214"	"00384151"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000279645"	"04214"	"00385841"	"00000"	"Familial, autosomal recessive"	"35y"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	"Retinitis pigmentosa"	""
"0000279646"	"04214"	"00385842"	"00000"	"Familial, autosomal recessive"	"33y"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	"Retinitis pigmentosa"	""
"0000279647"	"04214"	"00385843"	"00000"	"Familial, autosomal recessive"	"57y"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	"Retinitis pigmentosa"	""
"0000279648"	"04214"	"00385844"	"00000"	"Familial, autosomal recessive"	"76y"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	"Retinitis pigmentosa"	""
"0000279649"	"04214"	"00385845"	"00000"	"Familial, autosomal recessive"	"45y"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	"Retinitis pigmentosa"	""
"0000280009"	"04214"	"00386206"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Best macular dystrophy"	""
"0000280699"	"04214"	"00386899"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280834"	"04214"	"00387056"	"00000"	"Familial, autosomal recessive"	"44y"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal recessive"	""	""
"0000280835"	"04214"	"00387057"	"00000"	"Familial, autosomal recessive"	"71y"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal recessive"	""	""
"0000280836"	"04214"	"00387058"	"00000"	"Familial, autosomal recessive"	"35y"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal recessive"	""	""
"0000280837"	"04214"	"00387059"	"00000"	"Familial, autosomal recessive"	"32y"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal recessive"	""	""
"0000282044"	"04214"	"00388492"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"rod-cone dystrophy or retinitis pigmentosa (RCD/RP)"	""
"0000282898"	"04214"	"00389357"	"00000"	"Familial, autosomal recessive"	"43y"	"age at genetic diagnosis mentioned"	""	"37y"	""	""	""	""	""	""	"autosomal recessive retinitis pigmentosa"	""	""
"0000282901"	"04214"	"00389360"	"00000"	"Familial, autosomal recessive"	"57y"	"age at genetic diagnosis mentioned"	""	"55y"	""	""	""	""	""	""	"autosomal recessive retinitis pigmentosa"	""	""
"0000283059"	"04214"	"00389518"	"00000"	"Familial, autosomal recessive"	"48y"	"age at genetic diagnosis mentioned"	""	"46y"	""	""	""	""	""	""	"macular dystrophy"	""	""
"0000287809"	"04214"	"00394606"	"00000"	"Familial, autosomal recessive"	"51y"	""	"40y"	""	""	""	""	""	""	""	""	"Nonsyndromic retinitis pigmentosa"	""
"0000287810"	"04214"	"00394607"	"00000"	"Familial, autosomal recessive"	"69y"	""	""	""	""	""	""	""	""	""	""	"Nonsyndromic retinitis pigmentosa"	""
"0000289771"	"04214"	"00396610"	"00000"	"Unknown"	"78y"	"night blindness"	"67y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP)"	""
"0000300458"	"04214"	"00408332"	"00000"	"Familial, autosomal recessive"	"59y"	"best corrected visual acuity right, left eye: 20/40, 20/63; refraction right/left eye: -7.00 / -8.00"	""	""	""	""	""	""	""	""	"Retinal degeneration"	""	""
"0000300459"	"04214"	"00408333"	"00000"	"Familial, autosomal recessive"	"72y"	"best corrected visual acuity right, left eye: 20/25, 20/20; refraction right/left eye: plano / plano"	""	""	""	""	""	""	""	""	"Retinal degeneration"	""	""
"0000300460"	"04214"	"00408334"	"00000"	"Familial, X-linked recessive"	"7y"	"best corrected visual acuity right, left eye: 20/30, 20/30; refraction right/left eye: -0.75 / -0.75"	""	""	""	""	""	""	""	""	"Retinal degeneration"	""	""
"0000320999"	"00112"	"00430127"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000336209"	"00198"	"00447010"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, autosomal recessive"	""
"0000336528"	"00198"	"00447329"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""


## Screenings ## Do not remove or alter this header ##
## Count = 174
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000000122"	"00000130"	"1"	"00001"	"00001"	"2012-06-16 11:55:44"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000156359"	"00155494"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000156360"	"00155495"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000233737"	"00232638"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233738"	"00232639"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233739"	"00232640"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233740"	"00232641"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233741"	"00232642"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233742"	"00232643"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233743"	"00232644"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233744"	"00232645"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233745"	"00232646"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233746"	"00232647"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233747"	"00232648"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233748"	"00232649"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233749"	"00232650"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233750"	"00232651"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233751"	"00232652"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233752"	"00232653"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233753"	"00232654"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233754"	"00232655"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233755"	"00232656"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233756"	"00232657"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233757"	"00232658"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233758"	"00232659"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233759"	"00232660"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233760"	"00232661"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233761"	"00232662"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233762"	"00232663"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233763"	"00232664"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233764"	"00232665"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233765"	"00232666"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233766"	"00232667"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234782"	"00233683"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000295115"	"00293947"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000295116"	"00293948"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000300751"	"00299641"	"1"	"00006"	"00006"	"2020-04-18 08:53:03"	"00006"	"2020-04-18 09:16:58"	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	"WGS"
"0000306176"	"00305047"	"1"	"03575"	"00006"	"2020-06-24 11:55:42"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000310362"	"00309217"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310363"	"00309218"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310364"	"00309219"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310827"	"00309682"	"1"	"00006"	"00006"	"2020-08-31 19:56:42"	""	""	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	""
"0000310828"	"00309683"	"1"	"00006"	"00006"	"2020-08-31 20:37:31"	""	""	"SEQ"	"DNA"	""	""
"0000310829"	"00309684"	"1"	"00006"	"00006"	"2020-08-31 20:43:54"	""	""	"SEQ"	"DNA"	""	""
"0000310830"	"00309685"	"1"	"00006"	"00006"	"2020-08-31 20:46:09"	""	""	"SEQ"	"DNA"	""	""
"0000310837"	"00309692"	"1"	"00006"	"00006"	"2020-09-01 16:52:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000310838"	"00309693"	"1"	"00006"	"00006"	"2020-09-01 16:52:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000310839"	"00309694"	"1"	"00006"	"00006"	"2020-09-01 16:52:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000310840"	"00309695"	"1"	"00006"	"00006"	"2020-09-01 16:52:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000310841"	"00309696"	"1"	"00006"	"00006"	"2020-09-01 16:52:38"	"00006"	"2020-09-01 16:56:46"	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	"WES"
"0000310842"	"00309697"	"1"	"00006"	"00006"	"2020-09-01 17:00:43"	""	""	"SEQ"	"DNA"	""	""
"0000310843"	"00309698"	"1"	"00006"	"00006"	"2020-09-01 17:16:17"	""	""	"SEQ"	"DNA"	""	""
"0000310844"	"00309699"	"1"	"00006"	"00006"	"2020-09-01 17:16:17"	""	""	"SEQ"	"DNA"	""	""
"0000310845"	"00309700"	"1"	"00006"	"00006"	"2020-09-01 17:16:17"	""	""	"SEQ"	"DNA"	""	""
"0000310846"	"00309701"	"1"	"00006"	"00006"	"2020-09-01 17:16:17"	""	""	"SEQ"	"DNA"	""	""
"0000310847"	"00309702"	"1"	"00006"	"00006"	"2020-09-01 17:16:17"	""	""	"SEQ"	"DNA"	""	""
"0000310848"	"00309703"	"1"	"00006"	"00006"	"2020-09-01 17:16:17"	""	""	"SEQ"	"DNA"	""	""
"0000310849"	"00309704"	"1"	"00006"	"00006"	"2020-09-01 17:16:17"	""	""	"SEQ"	"DNA"	""	""
"0000310850"	"00309705"	"1"	"00006"	"00006"	"2020-09-01 17:16:17"	""	""	"SEQ"	"DNA"	""	""
"0000310851"	"00309706"	"1"	"00006"	"00006"	"2020-09-01 17:16:17"	""	""	"SEQ"	"DNA"	""	""
"0000310852"	"00309707"	"1"	"00006"	"00006"	"2020-09-01 17:16:17"	""	""	"SEQ"	"DNA"	""	""
"0000310853"	"00309708"	"1"	"00006"	"00006"	"2020-09-01 17:16:17"	""	""	"SEQ"	"DNA"	""	""
"0000310854"	"00309709"	"1"	"00006"	"00006"	"2020-09-01 17:16:17"	""	""	"SEQ"	"DNA"	""	""
"0000310855"	"00309710"	"1"	"00006"	"00006"	"2020-09-01 17:16:17"	""	""	"SEQ"	"DNA"	""	""
"0000310856"	"00309711"	"1"	"00006"	"00006"	"2020-09-01 17:16:17"	""	""	"SEQ"	"DNA"	""	""
"0000310857"	"00309712"	"1"	"00006"	"00006"	"2020-09-01 17:16:17"	""	""	"SEQ"	"DNA"	""	""
"0000310858"	"00309713"	"1"	"00006"	"00006"	"2020-09-01 17:16:17"	""	""	"SEQ"	"DNA"	""	""
"0000310859"	"00309714"	"1"	"00006"	"00006"	"2020-09-01 17:16:17"	""	""	"SEQ"	"DNA"	""	""
"0000310860"	"00309715"	"1"	"00006"	"00006"	"2020-09-01 17:16:17"	""	""	"SEQ"	"DNA"	""	""
"0000310861"	"00309716"	"1"	"00006"	"00006"	"2020-09-01 17:16:17"	""	""	"SEQ"	"DNA"	""	""
"0000310862"	"00309717"	"1"	"00006"	"00006"	"2020-09-01 17:16:17"	""	""	"SEQ"	"DNA"	""	""
"0000310863"	"00309718"	"1"	"00006"	"00006"	"2020-09-01 17:16:17"	""	""	"SEQ"	"DNA"	""	""
"0000310864"	"00309719"	"1"	"00006"	"00006"	"2020-09-01 17:16:17"	""	""	"SEQ"	"DNA"	""	""
"0000310865"	"00309720"	"1"	"00006"	"00006"	"2020-09-01 20:58:55"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"131 gene panel"
"0000310879"	"00309734"	"1"	"00006"	"00006"	"2020-09-02 10:06:49"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"131 gene panel"
"0000310880"	"00309735"	"1"	"00006"	"00006"	"2020-09-02 11:24:12"	""	""	"SEQ"	"DNA"	""	""
"0000310881"	"00309736"	"1"	"00006"	"00006"	"2020-09-02 11:24:12"	""	""	"SEQ"	"DNA"	""	""
"0000310882"	"00309737"	"1"	"00006"	"00006"	"2020-09-02 11:24:12"	""	""	"SEQ"	"DNA"	""	""
"0000310883"	"00309738"	"1"	"00006"	"00006"	"2020-09-02 11:24:12"	""	""	"SEQ"	"DNA"	""	""
"0000310884"	"00309739"	"1"	"00006"	"00006"	"2020-09-02 11:24:12"	""	""	"SEQ"	"DNA"	""	""
"0000310885"	"00309740"	"1"	"00006"	"00006"	"2020-09-02 11:24:12"	""	""	"SEQ"	"DNA"	""	""
"0000310886"	"00309741"	"1"	"00006"	"00006"	"2020-09-02 11:24:12"	""	""	"SEQ"	"DNA"	""	""
"0000310887"	"00309742"	"1"	"00006"	"00006"	"2020-09-02 11:24:12"	""	""	"SEQ"	"DNA"	""	""
"0000310888"	"00309743"	"1"	"00006"	"00006"	"2020-09-02 11:24:12"	""	""	"SEQ"	"DNA"	""	""
"0000310889"	"00309744"	"1"	"00006"	"00006"	"2020-09-02 11:24:12"	""	""	"SEQ"	"DNA"	""	""
"0000310890"	"00309745"	"1"	"00006"	"00006"	"2020-09-02 11:24:12"	""	""	"SEQ"	"DNA"	""	""
"0000310891"	"00309746"	"1"	"00006"	"00006"	"2020-09-02 11:24:12"	""	""	"SEQ"	"DNA"	""	""
"0000310892"	"00309747"	"1"	"00006"	"00006"	"2020-09-02 11:24:12"	""	""	"SEQ"	"DNA"	""	""
"0000310893"	"00309748"	"1"	"00006"	"00006"	"2020-09-02 11:24:12"	""	""	"SEQ"	"DNA"	""	""
"0000310899"	"00309754"	"1"	"00006"	"00006"	"2020-09-02 11:31:29"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"111 gene panel"
"0000310925"	"00309780"	"1"	"00006"	"00006"	"2020-09-03 17:00:34"	""	""	"SEQ"	"DNA"	""	""
"0000310926"	"00309781"	"1"	"00006"	"00006"	"2020-09-03 17:00:34"	""	""	"SEQ"	"DNA"	""	""
"0000310927"	"00309782"	"1"	"00006"	"00006"	"2020-09-03 17:00:34"	""	""	"SEQ"	"DNA"	""	""
"0000310928"	"00309783"	"1"	"00006"	"00006"	"2020-09-03 17:00:34"	""	""	"SEQ"	"DNA"	""	""
"0000310929"	"00309784"	"1"	"00006"	"00006"	"2020-09-03 17:00:34"	""	""	"SEQ"	"DNA"	""	""
"0000310930"	"00309785"	"1"	"00006"	"00006"	"2020-09-03 17:00:34"	""	""	"SEQ"	"DNA"	""	""
"0000310931"	"00309786"	"1"	"00006"	"00006"	"2020-09-03 17:00:34"	""	""	"SEQ"	"DNA"	""	""
"0000310932"	"00309787"	"1"	"00006"	"00006"	"2020-09-03 17:00:34"	""	""	"SEQ"	"DNA"	""	""
"0000310933"	"00309788"	"1"	"00006"	"00006"	"2020-09-03 17:00:34"	""	""	"SEQ"	"DNA"	""	""
"0000310934"	"00309789"	"1"	"00006"	"00006"	"2020-09-03 17:00:34"	""	""	"SEQ"	"DNA"	""	""
"0000310935"	"00309790"	"1"	"00006"	"00006"	"2020-09-03 17:00:34"	""	""	"SEQ"	"DNA"	""	""
"0000310936"	"00309791"	"1"	"00006"	"00006"	"2020-09-03 17:00:34"	""	""	"SEQ"	"DNA"	""	""
"0000310937"	"00309792"	"1"	"00006"	"00006"	"2020-09-03 17:00:34"	""	""	"SEQ"	"DNA"	""	""
"0000310938"	"00309793"	"1"	"00006"	"00006"	"2020-09-03 17:00:34"	""	""	"SEQ"	"DNA"	""	""
"0000310939"	"00309794"	"1"	"00006"	"00006"	"2020-09-03 17:00:34"	""	""	"SEQ"	"DNA"	""	""
"0000310940"	"00309795"	"1"	"00006"	"00006"	"2020-09-03 17:00:34"	""	""	"SEQ"	"DNA"	""	""
"0000310941"	"00309796"	"1"	"00006"	"00006"	"2020-09-03 17:00:34"	""	""	"SEQ"	"DNA"	""	""
"0000310942"	"00309797"	"1"	"00006"	"00006"	"2020-09-03 17:00:34"	""	""	"SEQ"	"DNA"	""	""
"0000310943"	"00309798"	"1"	"00006"	"00006"	"2020-09-03 17:00:34"	""	""	"SEQ"	"DNA"	""	""
"0000310944"	"00309799"	"1"	"00006"	"00006"	"2020-09-03 17:00:34"	""	""	"SEQ"	"DNA"	""	""
"0000310945"	"00309800"	"1"	"00006"	"00006"	"2020-09-03 17:00:34"	""	""	"SEQ"	"DNA"	""	""
"0000310946"	"00309801"	"1"	"00006"	"00006"	"2020-09-03 17:00:34"	""	""	"SEQ"	"DNA"	""	""
"0000310947"	"00309802"	"1"	"00006"	"00006"	"2020-09-03 17:00:34"	""	""	"SEQ"	"DNA"	""	""
"0000310948"	"00309803"	"1"	"00006"	"00006"	"2020-09-03 17:00:34"	""	""	"SEQ"	"DNA"	""	""
"0000310949"	"00309804"	"1"	"00006"	"00006"	"2020-09-03 17:00:34"	""	""	"SEQ"	"DNA"	""	""
"0000332500"	"00331280"	"1"	"00000"	"00006"	"2021-02-11 10:36:53"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"39-gene panel"
"0000333413"	"00332193"	"1"	"00000"	"00006"	"2021-02-15 18:54:26"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000335068"	"00333842"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335069"	"00333843"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335070"	"00333844"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335071"	"00333845"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335133"	"00333907"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335134"	"00333908"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335135"	"00333909"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000364145"	"00362917"	"1"	"00000"	"00006"	"2021-04-23 19:25:57"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000365098"	"00363870"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000373860"	"00372628"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373906"	"00372674"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373907"	"00372675"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000376115"	"00374921"	"1"	"00000"	"00006"	"2021-05-27 14:15:58"	""	""	"SEQ-NG"	"DNA"	""	"284 gene panel"
"0000376530"	"00375333"	"1"	"00000"	"00006"	"2021-06-03 08:39:58"	""	""	"SEQ-NG"	"DNA"	""	"193-gene panel"
"0000376531"	"00375334"	"1"	"00000"	"00006"	"2021-06-03 08:39:58"	""	""	"SEQ-NG"	"DNA"	""	"193-gene panel"
"0000376532"	"00375335"	"1"	"00000"	"00006"	"2021-06-03 08:39:58"	""	""	"SEQ-NG"	"DNA"	""	"193-gene panel"
"0000376612"	"00375415"	"1"	"00000"	"00006"	"2021-06-04 09:36:04"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000377959"	"00376753"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000377963"	"00376757"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000377964"	"00376758"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000377965"	"00376759"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000377971"	"00376765"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000377973"	"00376767"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000377999"	"00376793"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000378384"	"00377179"	"1"	"00000"	"03840"	"2021-07-16 14:18:12"	"00006"	"2021-08-06 16:49:30"	"SEQ-NG-I;SEQ"	"DNA"	"blood"	"targeted resequencing using MIPs library prep; 108-gene panel"
"0000378717"	"00377514"	"1"	"00000"	"03840"	"2021-07-22 15:35:32"	""	""	"SEQ-NG"	"DNA"	"blood"	"Targeted next-generation sequencing, CEP290 intronic variant c.2991 +1655A> G, PCR for RPGRIP1 exon 17 deletion, CCT2, CLUAP1, DTHD1, GDF6, and IFT140 seuqencing"
"0000379256"	"00378057"	"1"	"03508"	"03508"	"2021-08-04 04:35:36"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000383535"	"00382321"	"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"
"0000383816"	"00382602"	"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"
"0000385071"	"00383846"	"1"	"00000"	"03840"	"2021-09-29 12:44:05"	""	""	"SEQ"	"DNA"	""	"retrospective analysis"
"0000385169"	"00383944"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385310"	"00384085"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385376"	"00384151"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000387069"	"00385841"	"1"	"00000"	"03840"	"2021-10-15 23:06:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"after negative whole exome sequencing whole genome sequencing"
"0000387070"	"00385842"	"1"	"00000"	"03840"	"2021-10-15 23:06:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"after negative whole exome sequencing whole genome sequencing"
"0000387071"	"00385843"	"1"	"00000"	"03840"	"2021-10-15 23:06:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"after negative whole exome sequencing whole genome sequencing"
"0000387072"	"00385844"	"1"	"00000"	"03840"	"2021-10-15 23:06:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"after negative whole exome sequencing whole genome sequencing"
"0000387073"	"00385845"	"1"	"00000"	"03840"	"2021-10-15 23:06:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"after negative whole exome sequencing whole genome sequencing"
"0000387435"	"00386206"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000388127"	"00386899"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000388282"	"00387056"	"1"	"00000"	"03840"	"2021-10-28 13:59:26"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000388283"	"00387057"	"1"	"00000"	"03840"	"2021-10-28 13:59:26"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000388284"	"00387058"	"1"	"00000"	"03840"	"2021-10-28 13:59:26"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000388285"	"00387059"	"1"	"00000"	"03840"	"2021-10-28 13:59:26"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000389733"	"00388492"	"1"	"00000"	"00008"	"2021-11-04 08:27:28"	""	""	"SEQ-NG"	"DNA"	""	"CNV gene panel next-generation sequencing"
"0000390600"	"00389357"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET4 targeted sequencing panel - see paper"
"0000390603"	"00389360"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000390761"	"00389518"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000395853"	"00394606"	"1"	"00000"	"00008"	"2021-12-02 08:42:19"	""	""	"SEQ"	"DNA"	""	""
"0000395854"	"00394607"	"1"	"00000"	"00008"	"2021-12-02 08:42:19"	""	""	"SEQ"	"DNA"	""	""
"0000397853"	"00396610"	"1"	"00000"	"00008"	"2021-12-16 13:33:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000409589"	"00408332"	"1"	"00000"	"03840"	"2022-04-20 15:25:39"	""	""	"?"	"DNA"	""	""
"0000409590"	"00408333"	"1"	"00000"	"03840"	"2022-04-20 15:25:39"	""	""	"?"	"DNA"	""	""
"0000409591"	"00408334"	"1"	"00000"	"03840"	"2022-04-20 15:25:39"	""	""	"?"	"DNA"	""	""
"0000431540"	"00430127"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000448587"	"00447010"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448906"	"00447329"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 153
"{{screeningid}}"	"{{geneid}}"
"0000000122"	"IVD"
"0000156359"	"MAK"
"0000156360"	"MAK"
"0000233737"	"MAK"
"0000233738"	"MAK"
"0000233739"	"MAK"
"0000233740"	"MAK"
"0000233741"	"MAK"
"0000233742"	"MAK"
"0000233743"	"MAK"
"0000233744"	"MAK"
"0000233745"	"MAK"
"0000233746"	"MAK"
"0000233747"	"MAK"
"0000233748"	"MAK"
"0000233749"	"MAK"
"0000233750"	"MAK"
"0000233751"	"MAK"
"0000233752"	"MAK"
"0000233753"	"MAK"
"0000233754"	"MAK"
"0000233755"	"MAK"
"0000233756"	"MAK"
"0000233757"	"MAK"
"0000233758"	"MAK"
"0000233759"	"MAK"
"0000233760"	"MAK"
"0000233761"	"MAK"
"0000233762"	"MAK"
"0000233763"	"MAK"
"0000233764"	"MAK"
"0000233765"	"MAK"
"0000233766"	"MAK"
"0000234782"	"MAK"
"0000300751"	"ARHGEF18"
"0000310362"	"MAK"
"0000310363"	"MAK"
"0000310364"	"MAK"
"0000310827"	"MAK"
"0000310828"	"MAK"
"0000310829"	"MAK"
"0000310830"	"MAK"
"0000310837"	"MAK"
"0000310838"	"MAK"
"0000310839"	"MAK"
"0000310840"	"MAK"
"0000310841"	"MAK"
"0000310842"	"MAK"
"0000310843"	"MAK"
"0000310844"	"MAK"
"0000310845"	"MAK"
"0000310846"	"MAK"
"0000310847"	"MAK"
"0000310848"	"MAK"
"0000310849"	"MAK"
"0000310850"	"MAK"
"0000310851"	"MAK"
"0000310852"	"MAK"
"0000310853"	"MAK"
"0000310854"	"MAK"
"0000310855"	"MAK"
"0000310856"	"MAK"
"0000310857"	"MAK"
"0000310858"	"MAK"
"0000310859"	"MAK"
"0000310860"	"MAK"
"0000310861"	"MAK"
"0000310862"	"MAK"
"0000310863"	"MAK"
"0000310864"	"MAK"
"0000310865"	"MAK"
"0000310879"	"MAK"
"0000310880"	"MAK"
"0000310881"	"MAK"
"0000310882"	"MAK"
"0000310883"	"MAK"
"0000310884"	"MAK"
"0000310885"	"MAK"
"0000310886"	"MAK"
"0000310887"	"MAK"
"0000310888"	"MAK"
"0000310889"	"MAK"
"0000310890"	"MAK"
"0000310891"	"MAK"
"0000310892"	"MAK"
"0000310893"	"MAK"
"0000310899"	"MAK"
"0000310925"	"MAK"
"0000310926"	"MAK"
"0000310927"	"MAK"
"0000310928"	"MAK"
"0000310929"	"MAK"
"0000310930"	"MAK"
"0000310931"	"MAK"
"0000310932"	"MAK"
"0000310933"	"MAK"
"0000310934"	"MAK"
"0000310935"	"MAK"
"0000310936"	"MAK"
"0000310937"	"MAK"
"0000310938"	"MAK"
"0000310939"	"MAK"
"0000310940"	"MAK"
"0000310941"	"MAK"
"0000310942"	"MAK"
"0000310943"	"MAK"
"0000310944"	"MAK"
"0000310945"	"MAK"
"0000310946"	"MAK"
"0000310947"	"MAK"
"0000310948"	"MAK"
"0000310949"	"MAK"
"0000332500"	"MAK"
"0000335068"	"MAK"
"0000335069"	"MAK"
"0000335070"	"MAK"
"0000335071"	"MAK"
"0000335133"	"MAK"
"0000335134"	"MAK"
"0000335135"	"MAK"
"0000364145"	"MAK"
"0000365098"	"MAK"
"0000376530"	"MAK"
"0000376531"	"MAK"
"0000376532"	"MAK"
"0000378384"	"MAK"
"0000383535"	"MAK"
"0000383816"	"RPGRIP1"
"0000385169"	"MAK"
"0000385310"	"MAK"
"0000385376"	"MAK"
"0000387069"	"MAK"
"0000387070"	"MAK"
"0000387071"	"MAK"
"0000387072"	"MAK"
"0000387073"	"MAK"
"0000387435"	"ABCA4"
"0000388127"	"MAK"
"0000388282"	"MAK"
"0000388283"	"MAK"
"0000388284"	"MAK"
"0000388285"	"MAK"
"0000389733"	"MAK"
"0000390600"	"MAK"
"0000390603"	"MAK"
"0000390761"	"MAK"
"0000395853"	"MAK"
"0000395854"	"MAK"
"0000397853"	"RP1"
"0000409589"	"MAK"
"0000409590"	"MAK"
"0000409591"	"RPGR"
"0000431540"	"MAK"


## 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 = 230
"{{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}}"
"0000246438"	"0"	"30"	"6"	"10770421"	"10770421"	"subst"	"0.00371072"	"02330"	"MAK_000004"	"g.10770421A>G"	""	""	""	"MAK(NM_001242957.2):c.1715T>C (p.I572T), MAK(NM_001242957.3):c.1715T>C (p.I572T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.10770188A>G"	""	"likely benign"	""
"0000246452"	"0"	"10"	"6"	"10830854"	"10830854"	"subst"	"0.000243661"	"02330"	"MAK_000014"	"g.10830854A>G"	""	""	""	"MAK(NM_001242957.3):c.28T>C (p.L10=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.10830621A>G"	""	"benign"	""
"0000246482"	"0"	"10"	"6"	"10802308"	"10802308"	"subst"	"4.88154E-5"	"02330"	"MAK_000020"	"g.10802308A>G"	""	""	""	"MAK(NM_001242957.3):c.664-16T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.10802075A>G"	""	"benign"	""
"0000246483"	"0"	"10"	"6"	"10809201"	"10809201"	"del"	"0"	"02330"	"MAK_000012"	"g.10809201del"	""	""	""	"MAK(NM_001242957.3):c.359-18delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.10808968del"	""	"benign"	""
"0000246539"	"0"	"50"	"6"	"10818187"	"10818187"	"subst"	"0.000213545"	"02330"	"MAK_000013"	"g.10818187A>C"	""	""	""	"MAK(NM_001242957.3):c.174T>G (p.N58K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.10817954A>C"	""	"VUS"	""
"0000248563"	"0"	"10"	"6"	"10764727"	"10764727"	"subst"	"0.813051"	"02325"	"MAK_000001"	"g.10764727A>G"	""	""	""	"MAK(NM_001242957.3):c.1905T>C (p.H635=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.10764494A>G"	""	"benign"	""
"0000254179"	"0"	"30"	"6"	"10770421"	"10770421"	"subst"	"0.00371072"	"01943"	"MAK_000004"	"g.10770421A>G"	""	""	""	"MAK(NM_001242957.2):c.1715T>C (p.I572T), MAK(NM_001242957.3):c.1715T>C (p.I572T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.10770188A>G"	""	"likely benign"	""
"0000279546"	"0"	"10"	"6"	"10796279"	"10796279"	"subst"	"0"	"02330"	"MAK_000019"	"g.10796279C>T"	""	""	""	"MAK(NM_001242957.3):c.1095G>A (p.E365=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.10796046C>T"	""	"benign"	""
"0000279547"	"0"	"10"	"6"	"10796217"	"10796217"	"subst"	"0"	"02330"	"MAK_000008"	"g.10796217G>A"	""	""	""	"MAK(NM_001242957.3):c.1143+14C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.10795984G>A"	""	"benign"	""
"0000279548"	"0"	"10"	"6"	"10792040"	"10792040"	"subst"	"0.00194935"	"02330"	"MAK_000007"	"g.10792040C>A"	""	""	""	"MAK(NM_001242957.2):c.1184G>T (p.R395L), MAK(NM_001242957.3):c.1184G>T (p.R395L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.10791807C>A"	""	"benign"	""
"0000279549"	"0"	"50"	"6"	"10791921"	"10791921"	"subst"	"0.000179015"	"02330"	"MAK_000017"	"g.10791921C>A"	""	""	""	"MAK(NM_001242957.3):c.1303G>T (p.D435Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.10791688C>A"	""	"VUS"	""
"0000279550"	"0"	"10"	"6"	"10775679"	"10775681"	"del"	"0"	"02330"	"MAK_000006"	"g.10775679_10775681del"	""	""	""	"MAK(NM_001242957.3):c.1480_1482delAAG (p.K494del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.10775446_10775448del"	""	"benign"	""
"0000279551"	"0"	"30"	"6"	"10770475"	"10770479"	"del"	"0"	"02330"	"MAK_000005"	"g.10770475_10770479del"	""	""	""	"MAK(NM_001242957.3):c.1673-12_1673-8delATATG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.10770242_10770246del"	""	"likely benign"	""
"0000279552"	"0"	"10"	"6"	"10764850"	"10764850"	"subst"	"0"	"02330"	"MAK_000002"	"g.10764850T>G"	""	""	""	"MAK(NM_001242957.3):c.1793-11A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.10764617T>G"	""	"benign"	""
"0000279553"	"0"	"30"	"6"	"10809188"	"10809188"	"subst"	"0.00151997"	"02330"	"MAK_000011"	"g.10809188C>T"	""	""	""	"MAK(NM_001242957.3):c.359-13G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.10808955C>T"	""	"likely benign"	""
"0000291398"	"0"	"30"	"6"	"10796265"	"10796265"	"subst"	"3.65729E-5"	"01943"	"MAK_000009"	"g.10796265G>A"	""	""	""	"MAK(NM_001242957.2):c.1109C>T (p.T370M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.10796032G>A"	""	"likely benign"	""
"0000291399"	"0"	"90"	"6"	"10770395"	"10770395"	"subst"	"0"	"01943"	"MAK_000003"	"g.10770395G>A"	""	""	""	"MAK(NM_001242957.2):c.1741C>T (p.Q581*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.10770162G>A"	""	"pathogenic"	""
"0000291400"	"0"	"30"	"6"	"10802170"	"10802170"	"subst"	"2.43702E-5"	"01943"	"MAK_000010"	"g.10802170G>A"	""	""	""	"MAK(NM_001242957.2):c.786C>T (p.T262=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.10801937G>A"	""	"likely benign"	""
"0000344313"	"0"	"50"	"6"	"10803979"	"10803979"	"subst"	"0"	"02327"	"MAK_000015"	"g.10803979A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.10803746A>G"	""	"VUS"	""
"0000345945"	"0"	"50"	"6"	"10830803"	"10830803"	"subst"	"2.4401E-5"	"02327"	"MAK_000016"	"g.10830803C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.10830570C>T"	""	"VUS"	""
"0000358281"	"3"	"90"	"6"	"10791926"	"10791927"	"ins"	"0"	"01243"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	"36/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	"1297_1298ins353GGC...AAA (see paper)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000358282"	"3"	"70"	"6"	"10804119"	"10804119"	"subst"	"0"	"01243"	"MAK_000021"	"g.10804119C>T"	"2/2420 IRD families"	"{PMID:Ozgul 2011:21835304}, {PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.10803886C>T"	""	"likely pathogenic (recessive)"	""
"0000476445"	"0"	"50"	"6"	"10770358"	"10770358"	"subst"	"3.25039E-5"	"02591"	"MAK_000022"	"g.10770358T>C"	"2/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs200866765"	"0"	""	""	"g.10770125T>C"	""	"VUS"	""
"0000476446"	"0"	"50"	"6"	"10770365"	"10770365"	"subst"	"0"	"02591"	"MAK_000023"	"g.10770365G>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10770132G>T"	""	"VUS"	""
"0000476447"	"3"	"50"	"6"	"10784689"	"10784689"	"subst"	"4.06072E-6"	"02591"	"MAK_000024"	"g.10784689T>C"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10784456T>C"	""	"VUS"	""
"0000476448"	"0"	"50"	"6"	"10784770"	"10784770"	"subst"	"4.06091E-6"	"02591"	"MAK_000051"	"g.10784770G>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10784537G>T"	""	"VUS"	""
"0000476449"	"0"	"50"	"6"	"10791903"	"10791903"	"subst"	"0"	"02591"	"MAK_000025"	"g.10791903C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10791670C>T"	""	"VUS"	""
"0000476450"	"0"	"50"	"6"	"10791909"	"10791909"	"subst"	"1.62811E-5"	"02591"	"MAK_000026"	"g.10791909G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs764870230"	"0"	""	""	"g.10791676G>A"	""	"VUS"	""
"0000476451"	"0"	"50"	"6"	"10791951"	"10791951"	"subst"	"0"	"02591"	"MAK_000027"	"g.10791951T>C"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10791718T>C"	""	"VUS"	""
"0000476452"	"0"	"50"	"6"	"10791962"	"10791962"	"subst"	"1.62466E-5"	"02591"	"MAK_000028"	"g.10791962T>C"	"3/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs755285965"	"0"	""	""	"g.10791729T>C"	""	"VUS"	""
"0000476453"	"0"	"50"	"6"	"10792001"	"10792001"	"subst"	"0"	"02591"	"MAK_000029"	"g.10792001T>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10791768T>A"	""	"VUS"	""
"0000476454"	"0"	"50"	"6"	"10792019"	"10792019"	"subst"	"2.84269E-5"	"02591"	"MAK_000030"	"g.10792019T>G"	"2/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs200533678"	"0"	""	""	"g.10791786T>G"	""	"VUS"	""
"0000476455"	"0"	"50"	"6"	"10792073"	"10792073"	"subst"	"0.000434578"	"02591"	"MAK_000031"	"g.10792073T>C"	"10/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs55773478"	"0"	""	""	"g.10791840T>C"	""	"VUS"	""
"0000476456"	"0"	"50"	"6"	"10796233"	"10796233"	"subst"	"0"	"02591"	"MAK_000032"	"g.10796233T>G"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10796000T>G"	""	"VUS"	""
"0000476457"	"0"	"50"	"6"	"10796256"	"10796256"	"subst"	"2.03237E-5"	"02591"	"MAK_000033"	"g.10796256G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs771764863"	"0"	""	""	"g.10796023G>A"	""	"VUS"	""
"0000476458"	"0"	"50"	"6"	"10796311"	"10796311"	"subst"	"8.12473E-6"	"02591"	"MAK_000034"	"g.10796311C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs751783623"	"0"	""	""	"g.10796078C>T"	""	"VUS"	""
"0000476459"	"0"	"50"	"6"	"10796496"	"10796496"	"subst"	"4.4754E-5"	"02591"	"MAK_000035"	"g.10796496G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs773485283"	"0"	""	""	"g.10796263G>A"	""	"VUS"	""
"0000476460"	"0"	"50"	"6"	"10802169"	"10802169"	"subst"	"0.000182772"	"02591"	"MAK_000036"	"g.10802169C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs199689074"	"0"	""	""	"g.10801936C>T"	""	"VUS"	""
"0000476461"	"0"	"50"	"6"	"10802174"	"10802174"	"subst"	"0"	"02591"	"MAK_000037"	"g.10802174A>G"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10801941A>G"	""	"VUS"	""
"0000476462"	"0"	"50"	"6"	"10804051"	"10804051"	"subst"	"3.65503E-5"	"02591"	"MAK_000038"	"g.10804051T>C"	"3/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs56215624"	"0"	""	""	"g.10803818T>C"	""	"VUS"	""
"0000476463"	"0"	"50"	"6"	"10804054"	"10804056"	"dup"	"0"	"02591"	"MAK_000039"	"g.10804054_10804056dup"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10803821_10803823dup"	""	"VUS"	""
"0000476464"	"0"	"90"	"6"	"10804063"	"10804063"	"subst"	"8.12275E-6"	"02591"	"MAK_000040"	"g.10804063C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs527236080"	"0"	""	""	"g.10803830C>T"	""	"pathogenic"	""
"0000476465"	"0"	"90"	"6"	"10804065"	"10804065"	"subst"	"0"	"02591"	"MAK_000041"	"g.10804065C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10803832C>T"	""	"pathogenic"	""
"0000476466"	"0"	"50"	"6"	"10804104"	"10804104"	"subst"	"0"	"02591"	"MAK_000042"	"g.10804104A>G"	"2/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10803871A>G"	""	"VUS"	""
"0000476467"	"0"	"50"	"6"	"10809077"	"10809077"	"subst"	"0"	"02591"	"MAK_000043"	"g.10809077G>C"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10808844G>C"	""	"VUS"	""
"0000476468"	"0"	"50"	"6"	"10809166"	"10809166"	"subst"	"0"	"02591"	"MAK_000044"	"g.10809166T>A"	"1/1203 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10808933T>A"	""	"VUS"	""
"0000476469"	"3"	"50"	"6"	"10809166"	"10809166"	"subst"	"0"	"02591"	"MAK_000045"	"g.10809166T>C"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10808933T>C"	""	"VUS"	""
"0000476470"	"0"	"50"	"6"	"10813885"	"10813885"	"subst"	"0"	"02591"	"MAK_000046"	"g.10813885T>C"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10813652T>C"	""	"VUS"	""
"0000476471"	"0"	"90"	"6"	"10813894"	"10813894"	"dup"	"0"	"02591"	"MAK_000047"	"g.10813894dup"	"4/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs527236082"	"0"	""	""	"g.10813661dup"	""	"pathogenic"	""
"0000476472"	"0"	"50"	"6"	"10830777"	"10830777"	"subst"	"4.07345E-6"	"02591"	"MAK_000048"	"g.10830777G>C"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs766244428"	"0"	""	""	"g.10830544G>C"	""	"VUS"	""
"0000476473"	"0"	"50"	"6"	"10830785"	"10830785"	"subst"	"0"	"02591"	"MAK_000049"	"g.10830785T>C"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10830552T>C"	""	"VUS"	""
"0000476474"	"0"	"50"	"6"	"10830785"	"10830785"	"subst"	"0"	"02591"	"MAK_000050"	"g.10830785T>G"	"1/1203 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10830552T>G"	""	"VUS"	""
"0000477490"	"3"	"90"	"6"	"10813894"	"10813894"	"dup"	"0"	"02591"	"MAK_000047"	"g.10813894dup"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs527236082"	"0"	""	""	"g.10813661dup"	""	"pathogenic"	""
"0000526587"	"0"	"30"	"6"	"10764737"	"10764737"	"subst"	"8.12975E-6"	"02330"	"MAK_000053"	"g.10764737G>A"	""	""	""	"MAK(NM_001242957.3):c.1895C>T (p.P632L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.10764504G>A"	""	"likely benign"	""
"0000526591"	"0"	"30"	"6"	"10784717"	"10784717"	"subst"	"0.000332981"	"01943"	"MAK_000054"	"g.10784717C>T"	""	""	""	"MAK(NM_001242957.2):c.1405G>A (p.E469K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.10784484C>T"	""	"likely benign"	""
"0000526594"	"0"	"30"	"6"	"10791950"	"10791950"	"subst"	"0"	"01943"	"MAK_000057"	"g.10791950A>G"	""	""	""	"MAK(NM_001242957.2):c.1274T>C (p.M425T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.10791717A>G"	""	"likely benign"	""
"0000526595"	"0"	"10"	"6"	"10792040"	"10792040"	"subst"	"0.00194935"	"01943"	"MAK_000007"	"g.10792040C>A"	""	""	""	"MAK(NM_001242957.2):c.1184G>T (p.R395L), MAK(NM_001242957.3):c.1184G>T (p.R395L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.10791807C>A"	""	"benign"	""
"0000526601"	"0"	"50"	"6"	"10804051"	"10804051"	"subst"	"3.65503E-5"	"01943"	"MAK_000038"	"g.10804051T>C"	""	""	""	"MAK(NM_001242957.2):c.565A>G (p.I189V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.10803818T>C"	""	"VUS"	""
"0000526602"	"0"	"30"	"6"	"10813867"	"10813871"	"del"	"0"	"02330"	"MAK_000058"	"g.10813867_10813871del"	""	""	""	"MAK(NM_001242957.3):c.358+9_358+13delCTTTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.10813634_10813638del"	""	"likely benign"	""
"0000526623"	"0"	"30"	"6"	"10830846"	"10830846"	"subst"	"4.06131E-5"	"01943"	"MAK_000059"	"g.10830846G>A"	""	""	""	"MAK(NM_001242957.2):c.36C>T (p.D12=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.10830613G>A"	""	"likely benign"	""
"0000609892"	"0"	"30"	"6"	"10764835"	"10764835"	"subst"	"0"	"01943"	"MAK_000060"	"g.10764835A>G"	""	""	""	"MAK(NM_001242957.2):c.1797T>C (p.Y599=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.10764602A>G"	""	"likely benign"	""
"0000609894"	"0"	"30"	"6"	"10796399"	"10796399"	"subst"	"0.000816443"	"02330"	"MAK_000061"	"g.10796399C>T"	""	""	""	"MAK(NM_001242957.3):c.975G>A (p.P325=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.10796166C>T"	""	"likely benign"	""
"0000621612"	"0"	"50"	"6"	"10802201"	"10802201"	"subst"	"0.000235579"	"01943"	"MAK_000062"	"g.10802201T>C"	""	""	""	"MAK(NM_001242957.2):c.755A>G (p.N252S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.10801968T>C"	""	"VUS"	""
"0000651804"	"1"	"50"	"6"	"10764813"	"10764813"	"subst"	"0.000229026"	"03575"	"MAK_000063"	"g.10764813G>A"	"1/2788 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs199594233}"	"Germline"	""	"rs199594233"	"0"	""	""	"g.10764580G>A"	""	"VUS"	""
"0000651805"	"1"	"30"	"6"	"10775600"	"10775600"	"subst"	"0.0296323"	"03575"	"MAK_000064"	"g.10775600G>A"	"77/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"77 heterozygous; {DB:CLININrs567083}"	"Germline"	""	"rs567083"	"0"	""	""	"g.10775367G>A"	""	"likely benign"	""
"0000663579"	"1"	"50"	"6"	"10818187"	"10818187"	"subst"	"0.000213545"	"00006"	"MAK_000013"	"g.10818187A>C"	""	"{PMID:Arno 2017:28132693}"	""	""	"heterozygous variant only"	"Germline"	""	""	"0"	""	""	"g.10817954A>C"	""	"VUS"	""
"0000669864"	"3"	"30"	"6"	"10775600"	"10775600"	"subst"	"0.0296323"	"03575"	"MAK_000064"	"g.10775600G>A"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 homozygous; {DB:CLININrs567083}"	"Germline"	""	"rs567083"	"0"	""	""	"g.10775367G>A"	""	"likely benign"	""
"0000677583"	"0"	"30"	"6"	"10764798"	"10764798"	"subst"	"0.000379747"	"01943"	"MAK_000065"	"g.10764798C>G"	""	""	""	"MAK(NM_001242957.2):c.1834G>C (p.G612R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000685273"	"0"	"90"	"6"	"10791926"	"10791927"	"ins"	"0"	"00004"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	"36/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	"c.1297_1298ins353GGC...AAA (see paper)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685274"	"0"	"90"	"6"	"10804119"	"10804119"	"subst"	"0"	"00004"	"MAK_000021"	"g.10804119C>T"	"2/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685275"	"1"	"90"	"6"	"10809141"	"10809141"	"delins"	"0"	"00004"	"MAK_000067"	"g.10809141delinsAAGGT"	"1/2420 IRD families"	"{PMID:Kimchi 2018:29276052}, {PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	"ACMG"
"0000685851"	"3"	"90"	"6"	"10791939"	"10791940"	"ins"	"0"	"00006"	"MAK_000068"	"g.10791939_10791940insN[353]"	""	"{PMID:Tucker 2011:21825139}"	""	""	"353-bp Alu repeat insertion between codons 428 and 429"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000685854"	"3"	"90"	"6"	"10791939"	"10791940"	"ins"	"0"	"00006"	"MAK_000068"	"g.10791939_10791940insN[353]"	"21/1,798 RP FAMILIES"	"{PMID:Tucker 2011:21825139}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000685855"	"0"	"50"	"6"	"10792043"	"10792043"	"subst"	"0"	"00006"	"MAK_000069"	"g.10792043C>G"	""	"{PMID:Tucker 2011:21825139}"	""	""	"no variant 2nd chromosome"	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"VUS"	""
"0000685856"	"0"	"50"	"6"	"10791921"	"10791921"	"subst"	"0.000179015"	"00006"	"MAK_000017"	"g.10791921C>A"	""	"{PMID:Tucker 2011:21825139}"	""	""	"no variant 2nd chromosome"	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"VUS"	""
"0000685976"	"3"	"90"	"6"	"10802238"	"10802238"	"subst"	"0"	"00006"	"MAK_000077"	"g.10802238G>A"	""	"{PMID:Ozgul 2011:21835304}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10802005G>A"	""	"pathogenic (recessive)"	""
"0000685977"	"3"	"90"	"6"	"10809146"	"10809146"	"subst"	"0"	"00006"	"MAK_000073"	"g.10809146T>G"	""	"{PMID:Ozgul 2011:21835304}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.10808913T>G"	""	"pathogenic (recessive)"	""
"0000685978"	"3"	"90"	"6"	"10830845"	"10830845"	"subst"	"8.12354E-6"	"00006"	"MAK_000070"	"g.10830845C>T"	""	"{PMID:Ozgul 2011:21835304}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000685979"	"10"	"90"	"6"	"10830803"	"10830803"	"subst"	"2.4401E-5"	"00006"	"MAK_000078"	"g.10830803C>G"	""	"{PMID:Ozgul 2011:21835304}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10830570C>G"	""	"pathogenic (recessive)"	""
"0000685980"	"1"	"90"	"6"	"10830803"	"10830803"	"subst"	"2.4401E-5"	"00006"	"MAK_000016"	"g.10830803C>T"	""	"{PMID:Ozgul 2011:21835304}"	""	""	"unknown variant 2nd chromosome, no mRNA detectable"	"Germline"	""	""	"0"	""	""	"g.10830570C>T"	""	"pathogenic (recessive)"	""
"0000685981"	"21"	"90"	"6"	"10804074"	"10804074"	"subst"	"8.12288E-6"	"00006"	"MAK_000071"	"g.10804074A>G"	""	"{PMID:Ozgul 2011:21835304}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000685982"	"1"	"50"	"6"	"10796400"	"10796400"	"subst"	"0.00012592"	"00006"	"MAK_000072"	"g.10796400G>A"	""	"{PMID:Ozgul 2011:21835304}"	""	""	"variant not in affected sibling"	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000685983"	"3"	"90"	"6"	"10791939"	"10791940"	"ins"	"0"	"00006"	"MAK_000068"	"g.10791939_10791940insN[353]"	""	"{PMID:Stone 2011:22110072}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10791706_10791707insN[353]"	""	"pathogenic (recessive)"	""
"0000685984"	"3"	"90"	"6"	"10791939"	"10791940"	"ins"	"0"	"00006"	"MAK_000068"	"g.10791939_10791940insN[353]"	""	"{PMID:Stone 2011:22110072}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10791706_10791707insN[353]"	""	"pathogenic (recessive)"	""
"0000685985"	"3"	"90"	"6"	"10791939"	"10791940"	"ins"	"0"	"00006"	"MAK_000068"	"g.10791939_10791940insN[353]"	""	"{PMID:Stone 2011:22110072}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10791706_10791707insN[353]"	""	"pathogenic (recessive)"	""
"0000685986"	"3"	"90"	"6"	"10791939"	"10791940"	"ins"	"0"	"00006"	"MAK_000068"	"g.10791939_10791940insN[353]"	""	"{PMID:Stone 2011:22110072}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10791706_10791707insN[353]"	""	"pathogenic (recessive)"	""
"0000685987"	"3"	"90"	"6"	"10791939"	"10791940"	"ins"	"0"	"00006"	"MAK_000068"	"g.10791939_10791940insN[353]"	""	"{PMID:Stone 2011:22110072}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10791706_10791707insN[353]"	""	"pathogenic (recessive)"	""
"0000685988"	"3"	"90"	"6"	"10791939"	"10791940"	"ins"	"0"	"00006"	"MAK_000068"	"g.10791939_10791940insN[353]"	""	"{PMID:Stone 2011:22110072}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10791706_10791707insN[353]"	""	"pathogenic (recessive)"	""
"0000685989"	"3"	"90"	"6"	"10791939"	"10791940"	"ins"	"0"	"00006"	"MAK_000068"	"g.10791939_10791940insN[353]"	""	"{PMID:Stone 2011:22110072}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10791706_10791707insN[353]"	""	"pathogenic (recessive)"	""
"0000685990"	"3"	"90"	"6"	"10791939"	"10791940"	"ins"	"0"	"00006"	"MAK_000068"	"g.10791939_10791940insN[353]"	""	"{PMID:Stone 2011:22110072}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10791706_10791707insN[353]"	""	"pathogenic (recessive)"	""
"0000685991"	"3"	"90"	"6"	"10791939"	"10791940"	"ins"	"0"	"00006"	"MAK_000068"	"g.10791939_10791940insN[353]"	""	"{PMID:Stone 2011:22110072}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10791706_10791707insN[353]"	""	"pathogenic (recessive)"	""
"0000685992"	"3"	"90"	"6"	"10791939"	"10791940"	"ins"	"0"	"00006"	"MAK_000068"	"g.10791939_10791940insN[353]"	""	"{PMID:Stone 2011:22110072}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10791706_10791707insN[353]"	""	"pathogenic (recessive)"	""
"0000685993"	"3"	"90"	"6"	"10791939"	"10791940"	"ins"	"0"	"00006"	"MAK_000068"	"g.10791939_10791940insN[353]"	""	"{PMID:Stone 2011:22110072}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10791706_10791707insN[353]"	""	"pathogenic (recessive)"	""
"0000685994"	"3"	"90"	"6"	"10791939"	"10791940"	"ins"	"0"	"00006"	"MAK_000068"	"g.10791939_10791940insN[353]"	""	"{PMID:Stone 2011:22110072}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10791706_10791707insN[353]"	""	"pathogenic (recessive)"	""
"0000685995"	"3"	"90"	"6"	"10791939"	"10791940"	"ins"	"0"	"00006"	"MAK_000068"	"g.10791939_10791940insN[353]"	""	"{PMID:Stone 2011:22110072}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10791706_10791707insN[353]"	""	"pathogenic (recessive)"	""
"0000685996"	"3"	"90"	"6"	"10791939"	"10791940"	"ins"	"0"	"00006"	"MAK_000068"	"g.10791939_10791940insN[353]"	""	"{PMID:Stone 2011:22110072}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10791706_10791707insN[353]"	""	"pathogenic (recessive)"	""
"0000685997"	"3"	"90"	"6"	"10791939"	"10791940"	"ins"	"0"	"00006"	"MAK_000068"	"g.10791939_10791940insN[353]"	""	"{PMID:Stone 2011:22110072}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10791706_10791707insN[353]"	""	"pathogenic (recessive)"	""
"0000685998"	"3"	"90"	"6"	"10791939"	"10791940"	"ins"	"0"	"00006"	"MAK_000068"	"g.10791939_10791940insN[353]"	""	"{PMID:Stone 2011:22110072}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10791706_10791707insN[353]"	""	"pathogenic (recessive)"	""
"0000685999"	"3"	"90"	"6"	"10791939"	"10791940"	"ins"	"0"	"00006"	"MAK_000068"	"g.10791939_10791940insN[353]"	""	"{PMID:Stone 2011:22110072}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10791706_10791707insN[353]"	""	"pathogenic (recessive)"	""
"0000686000"	"3"	"90"	"6"	"10791939"	"10791940"	"ins"	"0"	"00006"	"MAK_000068"	"g.10791939_10791940insN[353]"	""	"{PMID:Stone 2011:22110072}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10791706_10791707insN[353]"	""	"pathogenic (recessive)"	""
"0000686001"	"3"	"90"	"6"	"10791939"	"10791940"	"ins"	"0"	"00006"	"MAK_000068"	"g.10791939_10791940insN[353]"	""	"{PMID:Stone 2011:22110072}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10791706_10791707insN[353]"	""	"pathogenic (recessive)"	""
"0000686002"	"3"	"90"	"6"	"10791939"	"10791940"	"ins"	"0"	"00006"	"MAK_000068"	"g.10791939_10791940insN[353]"	""	"{PMID:Stone 2011:22110072}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10791706_10791707insN[353]"	""	"pathogenic (recessive)"	""
"0000686003"	"1"	"90"	"6"	"10809146"	"10809146"	"subst"	"0"	"00006"	"MAK_000073"	"g.10809146T>G"	""	"{PMID:Stone 2011:22110072}"	""	"Asn130His"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686004"	"3"	"90"	"6"	"10791939"	"10791940"	"ins"	"0"	"00006"	"MAK_000068"	"g.10791939_10791940insN[353]"	""	"{PMID:Stone 2011:22110072}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10791706_10791707insN[353]"	""	"pathogenic (recessive)"	""
"0000686005"	"2"	"90"	"6"	"10830816"	"10830816"	""	"0"	"00006"	"MAK_000074"	"g.10830816C>R"	""	"{PMID:Stone 2011:22110072}"	""	"Lys22Asn"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686006"	"3"	"90"	"6"	"10791926"	"10791927"	"ins"	"0"	"00006"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Kimchi 2018:29276052}, {PMID:Sharon 2019:31456290}"	""	"1297_8ins353 (K433Rins31*)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686019"	"3"	"90"	"6"	"10791939"	"10791940"	"ins"	"0"	"00006"	"MAK_000068"	"g.10791939_10791940insN[353]"	""	"{PMID:Lai 2016:26894652}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10791706_10791707insN[353]"	""	"pathogenic (recessive)"	""
"0000686020"	"3"	"90"	"6"	"10791926"	"10791927"	"ins"	"0"	"00006"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Venturini 2015:25255364}, {PMID:Bujakowska 2015:26558903}"	""	"insAlu"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686021"	"3"	"90"	"6"	"10791926"	"10791927"	"ins"	"0"	"00006"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Venturini 2015:25255364}, {PMID:Bujakowska 2015:26558903}"	""	"insAlu"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686022"	"3"	"90"	"6"	"10791926"	"10791927"	"ins"	"0"	"00006"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Venturini 2015:25255364}, {PMID:Bujakowska 2015:26558903}"	""	"insAlu"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686023"	"3"	"90"	"6"	"10791926"	"10791927"	"ins"	"0"	"00006"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Venturini 2015:25255364}, {PMID:Bujakowska 2015:26558903}"	""	"insAlu"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686024"	"3"	"90"	"6"	"10791926"	"10791927"	"ins"	"0"	"00006"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Venturini 2015:25255364}, {PMID:Bujakowska 2015:26558903}"	""	"insAlu"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686025"	"3"	"90"	"6"	"10791926"	"10791927"	"ins"	"0"	"00006"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Venturini 2015:25255364}, {PMID:Bujakowska 2015:26558903}"	""	"insAlu"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686026"	"3"	"90"	"6"	"10791926"	"10791927"	"ins"	"0"	"00006"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Venturini 2015:25255364}, {PMID:Bujakowska 2015:26558903}"	""	"insAlu"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686027"	"3"	"90"	"6"	"10791926"	"10791927"	"ins"	"0"	"00006"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Venturini 2015:25255364}, {PMID:Bujakowska 2015:26558903}"	""	"insAlu"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686028"	"3"	"90"	"6"	"10791926"	"10791927"	"ins"	"0"	"00006"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Venturini 2015:25255364}, {PMID:Bujakowska 2015:26558903}"	""	"insAlu"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686029"	"3"	"90"	"6"	"10791926"	"10791927"	"ins"	"0"	"00006"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Venturini 2015:25255364}, {PMID:Bujakowska 2015:26558903}"	""	"insAlu"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686030"	"3"	"90"	"6"	"10791926"	"10791927"	"ins"	"0"	"00006"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Venturini 2015:25255364}, {PMID:Bujakowska 2015:26558903}"	""	"insAlu"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686031"	"3"	"90"	"6"	"10791926"	"10791927"	"ins"	"0"	"00006"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Venturini 2015:25255364}, {PMID:Bujakowska 2015:26558903}"	""	"insAlu"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686032"	"3"	"90"	"6"	"10791926"	"10791927"	"ins"	"0"	"00006"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Venturini 2015:25255364}, {PMID:Bujakowska 2015:26558903}"	""	"insAlu"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686033"	"3"	"90"	"6"	"10791926"	"10791927"	"ins"	"0"	"00006"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Venturini 2015:25255364}, {PMID:Bujakowska 2015:26558903}"	""	"insAlu"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686039"	"1"	"90"	"6"	"10792028"	"10792029"	"del"	"8.12203E-6"	"00006"	"MAK_000075"	"g.10792028_10792029del"	""	"{PMID:Gray 2018:29781741}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686040"	"2"	"90"	"6"	"10813958"	"10813958"	"subst"	"0"	"00006"	"MAK_000076"	"g.10813958T>C"	""	"{PMID:Gray 2018:29781741}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686058"	"2"	"90"	"6"	"10791926"	"10791927"	"ins"	"0"	"00006"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Kimchi 2018:29276052}, {PMID:Sharon 2019:31456290}"	""	"1297_8ins353 (K433Rins31*)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686069"	"3"	"90"	"6"	"10791926"	"10791927"	"ins"	"0"	"00006"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Kimchi 2018:29276052}"	""	"1297_8ins353 (K433Rins31*)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686070"	"3"	"90"	"6"	"10791926"	"10791927"	"ins"	"0"	"00006"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Kimchi 2018:29276052}"	""	"1297_8ins353 (K433Rins31*)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686071"	"3"	"90"	"6"	"10791926"	"10791927"	"ins"	"0"	"00006"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Kimchi 2018:29276052}"	""	"1297_8ins353 (K433Rins31*)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686072"	"3"	"90"	"6"	"10791926"	"10791927"	"ins"	"0"	"00006"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Kimchi 2018:29276052}"	""	"1297_8ins353 (K433Rins31*)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686073"	"3"	"90"	"6"	"10791926"	"10791927"	"ins"	"0"	"00006"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Kimchi 2018:29276052}"	""	"1297_8ins353 (K433Rins31*)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686074"	"3"	"90"	"6"	"10791926"	"10791927"	"ins"	"0"	"00006"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Kimchi 2018:29276052}"	""	"1297_8ins353 (K433Rins31*)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686075"	"3"	"90"	"6"	"10791926"	"10791927"	"ins"	"0"	"00006"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Kimchi 2018:29276052}"	""	"1297_8ins353 (K433Rins31*)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686076"	"3"	"90"	"6"	"10791926"	"10791927"	"ins"	"0"	"00006"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Kimchi 2018:29276052}"	""	"1297_8ins353 (K433Rins31*)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686077"	"3"	"90"	"6"	"10791926"	"10791927"	"ins"	"0"	"00006"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Kimchi 2018:29276052}"	""	"1297_8ins353 (K433Rins31*)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686078"	"3"	"90"	"6"	"10791926"	"10791927"	"ins"	"0"	"00006"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Kimchi 2018:29276052}"	""	"1297_8ins353 (K433Rins31*)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686079"	"3"	"90"	"6"	"10791926"	"10791927"	"ins"	"0"	"00006"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Kimchi 2018:29276052}"	""	"1297_8ins353 (K433Rins31*)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686080"	"3"	"90"	"6"	"10791926"	"10791927"	"ins"	"0"	"00006"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Kimchi 2018:29276052}"	""	"1297_8ins353 (K433Rins31*)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686081"	"3"	"90"	"6"	"10791926"	"10791927"	"ins"	"0"	"00006"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Kimchi 2018:29276052}"	""	"1297_8ins353 (K433Rins31*)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686082"	"3"	"90"	"6"	"10791926"	"10791927"	"ins"	"0"	"00006"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Kimchi 2018:29276052}"	""	"1297_8ins353 (K433Rins31*)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686083"	"3"	"90"	"6"	"10791926"	"10791927"	"ins"	"0"	"00006"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Kimchi 2018:29276052}"	""	"1297_8ins353 (K433Rins31*)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686084"	"3"	"90"	"6"	"10791926"	"10791927"	"ins"	"0"	"00006"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Kimchi 2018:29276052}"	""	"1297_8ins353 (K433Rins31*)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686085"	"3"	"90"	"6"	"10791926"	"10791927"	"ins"	"0"	"00006"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Kimchi 2018:29276052}"	""	"1297_8ins353 (K433Rins31*)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686086"	"3"	"90"	"6"	"10791926"	"10791927"	"ins"	"0"	"00006"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Kimchi 2018:29276052}"	""	"1297_8ins353 (K433Rins31*)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686087"	"3"	"90"	"6"	"10791926"	"10791927"	"ins"	"0"	"00006"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Kimchi 2018:29276052}"	""	"1297_8ins353 (K433Rins31*)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686088"	"3"	"90"	"6"	"10791926"	"10791927"	"ins"	"0"	"00006"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Kimchi 2018:29276052}"	""	"1297_8ins353 (K433Rins31*)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686089"	"3"	"90"	"6"	"10791926"	"10791927"	"ins"	"0"	"00006"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Kimchi 2018:29276052}"	""	"1297_8ins353 (K433Rins31*)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686090"	"3"	"90"	"6"	"10791926"	"10791927"	"ins"	"0"	"00006"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Kimchi 2018:29276052}"	""	"1297_8ins353 (K433Rins31*)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686091"	"3"	"90"	"6"	"10791926"	"10791927"	"ins"	"0"	"00006"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Kimchi 2018:29276052}"	""	"1297_8ins353 (K433Rins31*)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686092"	"3"	"90"	"6"	"10791926"	"10791927"	"ins"	"0"	"00006"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Kimchi 2018:29276052}"	""	"1297_8ins353 (K433Rins31*)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686093"	"3"	"90"	"6"	"10791926"	"10791927"	"ins"	"0"	"00006"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Kimchi 2018:29276052}"	""	"1297_8ins353 (K433Rins31*)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000689598"	"0"	"30"	"6"	"10784718"	"10784718"	"subst"	"3.24855E-5"	"01943"	"MAK_000079"	"g.10784718G>A"	""	""	""	"MAK(NM_001242957.2):c.1404C>T (p.S468=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000729755"	"1"	"70"	"6"	"10813912"	"10813912"	"subst"	"0"	"00000"	"MAK_000080"	"g.10813912T>C"	""	"{PMID:Maeda 2018:29785639}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10813679T>C"	""	"likely pathogenic"	""
"0000729787"	"2"	"70"	"6"	"10818186"	"10818186"	"subst"	"0"	"00000"	"MAK_000081"	"g.10818186G>A"	""	"{PMID:Maeda 2018:29785639}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10817953G>A"	""	"likely pathogenic"	""
"0000731041"	"0"	"50"	"6"	"10819163"	"10819163"	"subst"	"0"	"00000"	"MAK_000082"	"g.10819163T>G"	""	"{PMID:Bryant 2018:29343940}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10818930T>G"	""	"VUS"	""
"0000733077"	"3"	"70"	"6"	"10791939"	"10791940"	"ins"	"0"	"00000"	"MAK_000068"	"g.10791939_10791940insN[353]"	""	"{PMID:Stone 2017:28559085}"	""	"Lys429insAlu_353bp"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000733078"	"3"	"70"	"6"	"10791939"	"10791940"	""	"0"	"00000"	"MAK_000068"	"g.10791939_10791940insN[353]"	""	"{PMID:Stone 2017:28559085}"	""	"Lys429insAlu_353bp"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000733079"	"3"	"70"	"6"	"10791939"	"10791940"	""	"0"	"00000"	"MAK_000068"	"g.10791939_10791940insN[353]"	""	"{PMID:Stone 2017:28559085}"	""	"Lys429insAlu_353bp"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000733080"	"1"	"70"	"6"	"10830816"	"10830816"	"subst"	"0"	"00000"	"MAK_000085"	"g.10830816C>G"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10830583C>G"	""	"likely pathogenic"	""
"0000733142"	"3"	"70"	"6"	"10791939"	"10791940"	""	"0"	"00000"	"MAK_000068"	"g.10791939_10791940insN[353]"	""	"{PMID:Stone 2017:28559085}"	""	"Lys429insAlu_353bp"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000733143"	"3"	"70"	"6"	"10791939"	"10791940"	""	"0"	"00000"	"MAK_000068"	"g.10791939_10791940insN[353]"	""	"{PMID:Stone 2017:28559085}"	""	"Lys429insAlu_353bp"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000733144"	"1"	"70"	"6"	"10760973"	"10776116"	"del"	"0"	"00000"	"MAK_000083"	"g.10760973_10776116del"	""	"{PMID:Stone 2017:28559085}"	""	"del ex12-15, chr6:10760973-10776116del"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000733540"	"2"	"70"	"6"	"10809146"	"10809146"	"subst"	"0"	"00000"	"MAK_000073"	"g.10809146T>G"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10808913T>G"	""	"likely pathogenic"	""
"0000733589"	"2"	"70"	"6"	"10809049"	"10809049"	"subst"	"2.03191E-5"	"00000"	"MAK_000084"	"g.10809049G>A"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10808816G>A"	""	"likely pathogenic"	""
"0000764907"	"3"	"70"	"6"	"10830803"	"10830803"	"subst"	"2.4401E-5"	"00000"	"MAK_000078"	"g.10830803C>G"	""	"{PMID:Weisschuh 2016:26766544}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10830570C>G"	""	"likely pathogenic (recessive)"	""
"0000766052"	"3"	"90"	"6"	"10791926"	"10791927"	"ins"	"0"	"01243"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Sharon 2015:26261414}, {PMID:Beryozkin 2015:26306921}, {PMID:Sharon 2019:31456290}"	""	"1284_1285ins353, 1296_7ins353 (Alu insertion)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000784220"	"1"	"90"	"6"	"10804063"	"10804063"	"subst"	"8.12275E-6"	"00000"	"MAK_000040"	"g.10804063C>T"	""	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10803830C>T"	""	"pathogenic (recessive)"	""
"0000784434"	"0"	"50"	"6"	"10796406"	"10796406"	"subst"	"8.12321E-5"	"00000"	"MAK_000088"	"g.10796406G>C"	"1/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	"rs200641218"	"0"	""	""	"g.10796173G>C"	""	"VUS"	""
"0000784549"	"0"	"50"	"6"	"10796248"	"10796248"	"subst"	"8.13332E-6"	"00000"	"MAK_000086"	"g.10796248C>T"	"1/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10796015C>T"	""	"VUS"	""
"0000784596"	"0"	"90"	"6"	"10796269"	"10796269"	"subst"	"0"	"00000"	"MAK_000087"	"g.10796269G>A"	""	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10796036G>A"	""	"pathogenic (recessive)"	""
"0000787648"	"3"	"70"	"6"	"10804064"	"10804064"	"subst"	"0"	"00000"	"MAK_000089"	"g.10804064C>G"	""	"{PMID:Huang 2015:25356976}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.10803831C>G"	""	"likely pathogenic"	""
"0000788138"	"3"	"70"	"6"	"10804063"	"10804063"	"subst"	"8.12275E-6"	"00000"	"MAK_000040"	"g.10804063C>T"	""	"{PMID:Oishi 2014:25324289}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10803830C>T"	""	"likely pathogenic"	""
"0000788139"	"3"	"70"	"6"	"10804120"	"10804120"	"subst"	"8.12466E-6"	"00000"	"MAK_000091"	"g.10804120G>A"	""	"{PMID:Oishi 2014:25324289}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10803887G>A"	""	"likely pathogenic"	""
"0000788140"	"1"	"70"	"6"	"10804063"	"10804063"	"subst"	"8.12275E-6"	"00000"	"MAK_000040"	"g.10804063C>T"	""	"{PMID:Oishi 2014:25324289}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10803830C>T"	""	"likely pathogenic"	""
"0000788173"	"2"	"70"	"6"	"10813896"	"10813896"	"dup"	"0"	"00000"	"MAK_000092"	"g.10813896dup"	""	"{PMID:Oishi 2014:25324289}"	""	"340dupG"	""	"Germline"	""	""	"0"	""	""	"g.10813663dup"	""	"likely pathogenic"	""
"0000788340"	"0"	"50"	"6"	"10784663"	"10784663"	"subst"	"0"	"00000"	"MAK_000090"	"g.10784663G>C"	""	"{PMID:Katagiri 2014:25268133}"	""	"C1459G"	""	"Germline"	""	""	"0"	""	""	"g.10784430G>C"	""	"VUS"	""
"0000790413"	"3"	"70"	"6"	"10791926"	"10791927"	"ins"	"0"	"00000"	"MAK_000093"	"g.10791926_10791927insN[?]"	""	"{PMID:Wang 2014:25097241}"	""	"NM_001242957.1:c.1297_1298 insAlu"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000790414"	"3"	"70"	"6"	"10791926"	"10791927"	"ins"	"0"	"00000"	"MAK_000093"	"g.10791926_10791927insN[?]"	""	"{PMID:Wang 2014:25097241}"	""	"NM_001242957.1:c.1297_1298 insAlu"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000790415"	"3"	"70"	"6"	"10791926"	"10791927"	"ins"	"0"	"00000"	"MAK_000093"	"g.10791926_10791927insN[?]"	""	"{PMID:Wang 2014:25097241}"	""	"NM_001242957.1:c.1297_1298 insAlu"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000790481"	"0"	"50"	"6"	"10770421"	"10770421"	"subst"	"0.00371072"	"00000"	"MAK_000004"	"g.10770421A>G"	""	"{PMID:Wang 2014:25097241}"	""	"NM_001242957.1:c.1715T>C"	""	"Germline"	""	"rs79544660"	"0"	""	""	""	""	"VUS"	""
"0000790529"	"0"	"50"	"6"	"10770421"	"10770421"	"subst"	"0.00371072"	"00000"	"MAK_000004"	"g.10770421A>G"	""	"{PMID:Wang 2014:25097241}"	""	"NM_001242957.1:c.1715T>C"	""	"Germline"	""	"rs79544660"	"0"	""	""	""	""	"VUS"	""
"0000790539"	"0"	"50"	"6"	"10770421"	"10770421"	"subst"	"0.00371072"	"00000"	"MAK_000004"	"g.10770421A>G"	""	"{PMID:Wang 2014:25097241}"	""	"NM_001242957.1:c.1715T>C"	""	"Germline"	""	"rs79544660"	"0"	""	""	""	""	"VUS"	""
"0000790631"	"0"	"50"	"6"	"10830874"	"10830874"	"subst"	"1.62433E-5"	"00000"	"MAK_000094"	"g.10830874C>T"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10830641C>T"	""	"VUS"	""
"0000791139"	"0"	"90"	"6"	"10770435"	"10770438"	"del"	"0"	"00000"	"MAK_000095"	"g.10770435_10770438del"	"0 (in-house database, ~5000 samples)"	"Tracewska 2021, MolVis in press"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10770202_10770205del"	""	"pathogenic"	"ACMG"
"0000791239"	"0"	"90"	"6"	"10809177"	"10809177"	"subst"	"0"	"00000"	"MAK_000096"	"g.10809177T>C"	"0 (in-house database, ~5000 samples)"	"Tracewska 2021, MolVis in press"	""	""	""	"Germline"	""	""	"0"	""	""	"g.10808944T>C"	""	"pathogenic"	"ACMG"
"0000791570"	"0"	"50"	"6"	"10804051"	"10804051"	"subst"	"3.65503E-5"	"00000"	"MAK_000038"	"g.10804051T>C"	""	"{PMID:Hosono 2018:29844330}"	""	"c.565A>G"	"single heterozygous variant in a recessive gene, probably not causative in the patient"	"Germline"	"no"	"rs56215624"	"0"	""	""	"g.10803818T>C"	""	"VUS"	"ACMG"
"0000791626"	"0"	"50"	"6"	"10792019"	"10792019"	"subst"	"2.84269E-5"	"00000"	"MAK_000030"	"g.10792019T>G"	""	"{PMID:Hosono 2018:29844330}"	""	"c.1205A>C"	"single heterozygous variant in a recessive gene, probably not causative in the patient"	"Germline"	"no"	"rs200533678"	"0"	""	""	"g.10791786T>G"	""	"VUS"	"ACMG"
"0000792392"	"0"	"70"	"6"	"10804063"	"10804063"	"subst"	"8.12275E-6"	"03508"	"MAK_000040"	"g.10804063C>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	"ACMG"
"0000792393"	"0"	"70"	"6"	"10804114"	"10804114"	"subst"	"4.06207E-6"	"03508"	"MAK_000097"	"g.10804114G>C"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	"ACMG"
"0000797689"	"0"	"70"	"6"	"10796231"	"10796231"	"dup"	"0"	"00000"	"MAK_000099"	"g.10796231dup"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"MAK c.814C>T, p.(Arg272*), c.1143dup, p.(Lys382*)"	""	"Germline"	"?"	""	"0"	""	""	"g.10795998dup"	""	"likely pathogenic"	"ACMG"
"0000797690"	"0"	"70"	"6"	"10802142"	"10802142"	"subst"	"8.12334E-6"	"00000"	"MAK_000100"	"g.10802142G>A"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"MAK c.814C>T, p.(Arg272*), c.1143dup, p.(Lys382*)"	""	"Germline"	"?"	""	"0"	""	""	"g.10801909G>A"	""	"likely pathogenic"	"ACMG"
"0000798083"	"0"	"70"	"6"	"10784754"	"10784755"	"ins"	"0"	"00000"	"MAK_000098"	"g.10784754_10784755insA"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"RPGRIP1 c.194G>A, p.(Trp65*), MAKBBS10 c.1367_1368insT, p.(Lys456Asnfs*12), c.271dup, p.(Cys91Leufs*5)"	"single heterozygous variant (recessive)"	"Germline"	"?"	""	"0"	""	""	"g.10784521_10784522insA"	""	"likely pathogenic"	"ACMG"
"0000802252"	"0"	"30"	"6"	"10791979"	"10791979"	"subst"	"0.00103168"	"02330"	"MAK_000101"	"g.10791979G>A"	""	""	""	"MAK(NM_001242957.3):c.1245C>T (p.F415=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000811942"	"3"	"70"	"6"	"0"	"0"	""	"0"	"00000"	"LAMA2_000000"	"g.?"	""	"{PMID:Hariri 2018:31047384}"	""	"K429insAlu (homozygous)"	""	"Germline"	"?"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000812066"	"0"	"70"	"6"	"10809097"	"10809097"	"subst"	"4.06237E-6"	"00000"	"MAK_000103"	"g.10809097A>G"	""	"{PMID:Martin Merida 2019:30902645}"	""	"MAK Ex.5 c.437T>C p.(Leu146Pro), IVS13 c.1793-2A>T p.(?)"	"compound heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.10808864A>G"	""	"likely pathogenic"	""
"0000812067"	"0"	"70"	"6"	"10764841"	"10764841"	"subst"	"0"	"00000"	"MAK_000102"	"g.10764841T>A"	""	"{PMID:Martin Merida 2019:30902645}"	""	"MAK Ex.5 c.437T>C p.(Leu146Pro), IVS13 c.1793-2A>T p.(?)"	"different transcript:NM_001242957.2(MAK):c.1793-2A>T, compound heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.10764608T>A"	""	"likely pathogenic"	""
"0000812293"	"3"	"70"	"6"	"10802142"	"10802142"	"subst"	"8.12334E-6"	"00000"	"MAK_000100"	"g.10802142G>A"	""	"{PMID:Martin Merida 2019:30902645}"	""	"MAK Ex.7 c.814C>T p.(Arg272*), Ex.7 c.814C>T p.(Arg272*)"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.10801909G>A"	""	"likely pathogenic"	""
"0000812406"	"3"	"70"	"6"	"10802142"	"10802142"	"subst"	"8.12334E-6"	"00000"	"MAK_000100"	"g.10802142G>A"	""	"{PMID:Martin Merida 2019:30902645}"	""	"MAK Ex.7 c.814C>T  p.(Arg272*), Ex.7 c.814C>T  p.(Arg272*)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.10801909G>A"	""	"likely pathogenic"	""
"0000814923"	"3"	"70"	"6"	"10791926"	"10791927"	"ins"	"0"	"00000"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Cho 2020:32000842}"	""	"353-bp Alu repeat insertion; c.1297_1298ins(353), p.Lys433_Lys434ins(1)"	"Homozygous"	"Unknown"	"?"	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000814924"	"3"	"70"	"6"	"10791926"	"10791927"	"ins"	"0"	"00000"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Cho 2020:32000842}"	""	"353-bp Alu repeat insertion; c.1297_1298ins(353), p.Lys433_Lys434ins(1)"	"Homozygous"	"Unknown"	"?"	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000814925"	"3"	"70"	"6"	"10791926"	"10791927"	"ins"	"0"	"00000"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Cho 2020:32000842}"	""	"353-bp Alu repeat insertion; c.1297_1298ins(353), p.Lys433_Lys434ins(1)"	"Homozygous"	"Unknown"	"?"	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000814926"	"3"	"70"	"6"	"10791926"	"10791927"	"ins"	"0"	"00000"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Cho 2020:32000842}"	""	"353-bp Alu repeat insertion; c.1297_1298ins(353), p.Lys433_Lys434ins(1)"	"Homozygous"	"Unknown"	"?"	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000814927"	"3"	"70"	"6"	"10791926"	"10791927"	"ins"	"0"	"00000"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Cho 2020:32000842}"	""	"353-bp Alu repeat insertion; c.1297_1298ins(353), p.Lys433_Lys434ins(1)"	"Homozygous"	"Unknown"	"?"	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000815606"	"0"	"50"	"6"	"10802201"	"10802201"	"subst"	"0.000235579"	"00000"	"MAK_000062"	"g.10802201T>C"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"MAK:NM_005906 c.A755G, p.N252S"	"heterozygous, individual unsolved, causality of variants unknown"	"Germline"	"?"	""	"0"	""	""	"g.10801968T>C"	""	"VUS"	"ACMG"
"0000816285"	"0"	"50"	"6"	"10809140"	"10809141"	"ins"	"0"	"00000"	"MAK_000104"	"g.10809140_10809141insAAGG"	""	"{PMID:Zampaglione 2020:32037395}"	""	"MAK c.394_395insCTTC, p.Leu132ProfsTer13"	"unsolved"	"Unknown"	"?"	""	"0"	""	""	"g.10808907_10808908insAAGG"	""	"VUS"	""
"0000816742"	"3"	"70"	"6"	"10791926"	"10791927"	"ins"	"0"	"00000"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Jauregui 2020:32098976}"	""	"MAK c.1297_1298insAlu, p.Lys433insAlu"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000816743"	"3"	"70"	"6"	"10791926"	"10791927"	"ins"	"0"	"00000"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Jauregui 2020:32098976}"	""	"MAK c.1297_1298insAlu, p.Lys433insAlu"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000816744"	"3"	"70"	"6"	"10791926"	"10791927"	"ins"	"0"	"00000"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Jauregui 2020:32098976}"	""	"MAK c.1297_1298insAlu, p.Lys433insAlu"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000816745"	"3"	"70"	"6"	"10791926"	"10791927"	"ins"	"0"	"00000"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Jauregui 2020:32098976}"	""	"MAK c.1297_1298insAlu, p.Lys433insAlu"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000818967"	"3"	"70"	"6"	"10819118"	"10819174"	"del"	"0"	"00000"	"MAK_000105"	"g.(10818205_10819118)_(10819174_10830780)del"	""	"{PMID:Ellingsford 2018:29074561}"	""	"chr6:10819114–10819178"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000819945"	"1"	"70"	"6"	"10770429"	"10770429"	"del"	"0"	"00000"	"MAK_000107"	"g.10770429del"	""	"{PMID:Weisschuh 2020:32531858}"	""	"MAK, variant 1: c.1632del/p.G545Dfs*20, variant 2: c.1632del/p.G545Dfs*20"	"solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.10770196del"	""	"likely pathogenic"	""
"0000819948"	"1"	"70"	"6"	"10830803"	"10830803"	"subst"	"2.4401E-5"	"00000"	"MAK_000078"	"g.10830803C>G"	""	"{PMID:Weisschuh 2020:32531858}"	""	"MAK, variant 1: c.79G>C /p.G27R, variant 2: c.79G>C /p.G27R"	"solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.10830570C>G"	""	"likely pathogenic"	""
"0000820106"	"1"	"70"	"6"	"10770358"	"10770361"	"del"	"0"	"00000"	"MAK_000106"	"g.10770358_10770361del"	""	"{PMID:Weisschuh 2020:32531858}"	""	"MAK, variant 1: c.1700_1703del/p.N567Sfs*22, variant 2: c.1700_1703del/p.N567Sfs*22"	"deletion automapperd to c.1701_1704del, protein change should be p.(Asn568Glnfs*29) and not p.(Asn567Serfs*22), solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.10770125_10770128del"	""	"likely pathogenic"	""
"0000827290"	"0"	"90"	"6"	"10775639"	"10775639"	"dup"	"0"	"00000"	"MAK_000108"	"g.10775639dup"	""	"{PMID:Colombo-2020:33576794}"	""	"c.1519dup"	""	"Germline"	""	"rs748216114"	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000827291"	"0"	"90"	"6"	"10830780"	"10830780"	"subst"	"0"	"00000"	"MAK_000109"	"g.10830780C>A"	""	"{PMID:Colombo-2020:33576794}"	""	"c.101+1G>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000827292"	"3"	"90"	"6"	"10830803"	"10830803"	"subst"	"2.4401E-5"	"00000"	"MAK_000016"	"g.10830803C>T"	""	"{PMID:Colombo-2020:33576794}"	""	"c.79G>A"	""	"Germline"	""	"rs754916169"	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000829968"	"0"	"50"	"6"	"10804104"	"10804104"	"subst"	"0"	"00000"	"MAK_000042"	"g.10804104A>G"	""	"{PMID:Numa-2020:33247286}"	""	"c.512T>C:p.L171S"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000829969"	"0"	"90"	"6"	"10764732"	"10764732"	"subst"	"0"	"00000"	"LAMA2_000000"	"g.10764732G>A"	""	"{PMID:Numa-2020:33247286}"	""	"c.1825C>T:p.Q609X"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000846774"	"3"	"70"	"6"	"10791926"	"10791927"	"ins"	"0"	"00000"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Jacobson 2014:25074776}"	""	"MAK p.K429 insAlu_353bp"	"no nucleotide annotation, extrapolated from protein and databases; hemizygous"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000846775"	"3"	"70"	"6"	"10791926"	"10791927"	"ins"	"0"	"00000"	"MAK_000066"	"g.10791926_10791927ins[NC_000004.11:g.106370094_106370420;A[26]]"	""	"{PMID:Jacobson 2014:25074776}"	""	"MAK p.K429 insAlu_353bp"	"no nucleotide annotation, extrapolated from protein and databases; hemizygous"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000846776"	"3"	"70"	"6"	"0"	"0"	""	"0"	"00000"	"LAMA2_000000"	"g.?"	""	"{PMID:Jacobson 2014:25074776}"	""	"RPGR p.S551fs"	"no nucleotide annotation, no possibility of extrapolation from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000851026"	"0"	"30"	"6"	"10796264"	"10796264"	"subst"	"8.12935E-6"	"02330"	"MAK_000111"	"g.10796264C>G"	""	""	""	"MAK(NM_001242957.3):c.1110G>C (p.T370=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000860058"	"0"	"50"	"6"	"10764726"	"10764726"	"subst"	"2.03207E-5"	"02327"	"MAK_000110"	"g.10764726C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000860060"	"0"	"50"	"6"	"10818092"	"10818092"	"subst"	"8.22044E-6"	"01943"	"MAK_000112"	"g.10818092A>C"	""	""	""	"MAK(NM_001242957.2):c.269T>G (p.M90R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000886974"	"0"	"30"	"6"	"10784822"	"10784822"	"del"	"0"	"02330"	"MAK_000113"	"g.10784822del"	""	""	""	"MAK(NM_001242957.3):c.1317-15delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000886975"	"0"	"30"	"6"	"10792073"	"10792073"	"subst"	"0.000434578"	"02330"	"MAK_000031"	"g.10792073T>C"	""	""	""	"MAK(NM_001242957.3):c.1151A>G (p.N384S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000886976"	"0"	"90"	"6"	"10796290"	"10796291"	"del"	"0"	"02330"	"MAK_000114"	"g.10796290_10796291del"	""	""	""	"MAK(NM_001242957.3):c.1084_1085delCA (p.Q362Efs*20)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000916745"	"3"	"50"	"6"	"10803979"	"10803979"	"subst"	"0"	"04436"	"MAK_000015"	"g.10803979A>G"	""	"{PMID:Panneman 2023:36819107}"	""	"c.637T>C"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000958073"	"3"	"90"	"6"	"10809060"	"10809060"	"del"	"0"	"00006"	"MAK_000117"	"g.10809060del"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5"	"Germline"	""	""	"0"	""	""	"g.10808827del"	"1184969"	"pathogenic (recessive)"	"ACMG"
"0000958673"	"0"	"90"	"6"	"10803977"	"10803977"	"subst"	"0"	"00006"	"MAK_000116"	"g.10803977G>T"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5"	"Germline"	""	""	"0"	""	""	"g.10803744G>T"	"1275784"	"pathogenic (recessive)"	"ACMG"
"0000959083"	"0"	"70"	"6"	"10795370"	"10800495"	"delins"	"0"	"00006"	"MAK_000115"	"g.10795370_10800495delinsCCAGGCTGGAG"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1"	"Germline"	""	""	"0"	""	""	"g.10795137_10800262delinsCCAGGCTGGAG"	""	"likely pathogenic (recessive)"	"ACMG"
"0000976915"	"0"	"50"	"6"	"10830850"	"10830850"	"subst"	"4.06138E-6"	"02327"	"MAK_000119"	"g.10830850C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes MAK
## Count = 230
"{{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}}"
"0000246438"	"00011700"	"30"	"1640"	"0"	"1640"	"0"	"c.1640T>C"	"r.(?)"	"p.(Ile547Thr)"	""
"0000246452"	"00011700"	"10"	"28"	"0"	"28"	"0"	"c.28T>C"	"r.(?)"	"p.(Leu10=)"	""
"0000246482"	"00011700"	"10"	"664"	"-16"	"664"	"-16"	"c.664-16T>C"	"r.(=)"	"p.(=)"	""
"0000246483"	"00011700"	"10"	"359"	"-18"	"359"	"-18"	"c.359-18del"	"r.(=)"	"p.(=)"	""
"0000246539"	"00011700"	"50"	"174"	"0"	"174"	"0"	"c.174T>G"	"r.(?)"	"p.(Asn58Lys)"	""
"0000248563"	"00011700"	"10"	"1830"	"0"	"1830"	"0"	"c.1830T>C"	"r.(?)"	"p.(His610=)"	""
"0000254179"	"00011700"	"30"	"1640"	"0"	"1640"	"0"	"c.1640T>C"	"r.(?)"	"p.(Ile547Thr)"	""
"0000279546"	"00011700"	"10"	"1095"	"0"	"1095"	"0"	"c.1095G>A"	"r.(?)"	"p.(Glu365=)"	""
"0000279547"	"00011700"	"10"	"1143"	"14"	"1143"	"14"	"c.1143+14C>T"	"r.(=)"	"p.(=)"	""
"0000279548"	"00011700"	"10"	"1184"	"0"	"1184"	"0"	"c.1184G>T"	"r.(?)"	"p.(Arg395Leu)"	""
"0000279549"	"00011700"	"50"	"1303"	"0"	"1303"	"0"	"c.1303G>T"	"r.(?)"	"p.(Asp435Tyr)"	""
"0000279550"	"00011700"	"10"	"1480"	"0"	"1482"	"0"	"c.1480_1482del"	"r.(?)"	"p.(Lys494del)"	""
"0000279551"	"00011700"	"30"	"1598"	"-12"	"1598"	"-8"	"c.1598-12_1598-8del"	"r.(=)"	"p.(=)"	""
"0000279552"	"00011700"	"10"	"1718"	"-11"	"1718"	"-11"	"c.1718-11A>C"	"r.(=)"	"p.(=)"	""
"0000279553"	"00011700"	"30"	"359"	"-13"	"359"	"-13"	"c.359-13G>A"	"r.(=)"	"p.(=)"	""
"0000291398"	"00011700"	"30"	"1109"	"0"	"1109"	"0"	"c.1109C>T"	"r.(?)"	"p.(Thr370Met)"	""
"0000291399"	"00011700"	"90"	"1666"	"0"	"1666"	"0"	"c.1666C>T"	"r.(?)"	"p.(Gln556Ter)"	""
"0000291400"	"00011700"	"30"	"786"	"0"	"786"	"0"	"c.786C>T"	"r.(?)"	"p.(Thr262=)"	""
"0000344313"	"00011700"	"50"	"637"	"0"	"637"	"0"	"c.637T>C"	"r.(?)"	"p.(Cys213Arg)"	""
"0000345945"	"00011700"	"50"	"79"	"0"	"79"	"0"	"c.79G>A"	"r.(?)"	"p.(Gly27Arg)"	""
"0000358281"	"00011700"	"90"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.?"	"p.(Lys433Argfs*31)"	"10"
"0000358282"	"00011700"	"70"	"497"	"0"	"497"	"0"	"c.497G>A"	"r.(?)"	"p.(Arg166His)"	"7"
"0000476445"	"00011700"	"50"	"1703"	"0"	"1703"	"0"	"c.1703A>G"	"r.(?)"	"p.(Asn568Ser)"	""
"0000476446"	"00011700"	"50"	"1696"	"0"	"1696"	"0"	"c.1696C>A"	"r.(?)"	"p.(Pro566Thr)"	""
"0000476447"	"00011700"	"50"	"1433"	"0"	"1433"	"0"	"c.1433A>G"	"r.(?)"	"p.(Gln478Arg)"	""
"0000476448"	"00011700"	"50"	"1352"	"0"	"1352"	"0"	"c.1352C>A"	"r.(?)"	"p.(Ser451*)"	""
"0000476449"	"00011700"	"50"	"1316"	"5"	"1316"	"5"	"c.1316+5G>A"	"r.spl?"	"p.?"	""
"0000476450"	"00011700"	"50"	"1315"	"0"	"1315"	"0"	"c.1315C>T"	"r.(?)"	"p.(Arg439Trp)"	""
"0000476451"	"00011700"	"50"	"1273"	"0"	"1273"	"0"	"c.1273A>G"	"r.(?)"	"p.(Met425Val)"	""
"0000476452"	"00011700"	"50"	"1262"	"0"	"1262"	"0"	"c.1262A>G"	"r.(?)"	"p.(Lys421Arg)"	""
"0000476453"	"00011700"	"50"	"1223"	"0"	"1223"	"0"	"c.1223A>T"	"r.(?)"	"p.(Glu408Val)"	""
"0000476454"	"00011700"	"50"	"1205"	"0"	"1205"	"0"	"c.1205A>C"	"r.(?)"	"p.(Lys402Thr)"	""
"0000476455"	"00011700"	"50"	"1151"	"0"	"1151"	"0"	"c.1151A>G"	"r.(?)"	"p.(Asn384Ser)"	""
"0000476456"	"00011700"	"50"	"1141"	"0"	"1141"	"0"	"c.1141A>C"	"r.(?)"	"p.(Thr381Pro)"	""
"0000476457"	"00011700"	"50"	"1118"	"0"	"1118"	"0"	"c.1118C>T"	"r.(?)"	"p.(Pro373Leu)"	""
"0000476458"	"00011700"	"50"	"1063"	"0"	"1063"	"0"	"c.1063G>A"	"r.(?)"	"p.(Val355Ile)"	""
"0000476459"	"00011700"	"50"	"878"	"0"	"878"	"0"	"c.878C>T"	"r.(?)"	"p.(Ser293Leu)"	""
"0000476460"	"00011700"	"50"	"787"	"0"	"787"	"0"	"c.787G>A"	"r.(?)"	"p.(Glu263Lys)"	""
"0000476461"	"00011700"	"50"	"782"	"0"	"782"	"0"	"c.782T>C"	"r.(?)"	"p.(Met261Thr)"	""
"0000476462"	"00011700"	"50"	"565"	"0"	"565"	"0"	"c.565A>G"	"r.(?)"	"p.(Ile189Val)"	""
"0000476463"	"00011700"	"50"	"561"	"0"	"563"	"0"	"c.561_563dup"	"r.(?)"	"p.(Gly187_Ser188insArg)"	""
"0000476464"	"00011700"	"90"	"553"	"0"	"553"	"0"	"c.553G>A"	"r.(?)"	"p.(Ala185Thr)"	""
"0000476465"	"00011700"	"90"	"551"	"0"	"551"	"0"	"c.551G>A"	"r.(?)"	"p.(Trp184*)"	""
"0000476466"	"00011700"	"50"	"512"	"0"	"512"	"0"	"c.512T>C"	"r.(?)"	"p.(Leu171Ser)"	""
"0000476467"	"00011700"	"50"	"457"	"0"	"457"	"0"	"c.457C>G"	"r.(?)"	"p.(Gln153Glu)"	""
"0000476468"	"00011700"	"50"	"368"	"0"	"368"	"0"	"c.368A>T"	"r.(?)"	"p.(His123Leu)"	""
"0000476469"	"00011700"	"50"	"368"	"0"	"368"	"0"	"c.368A>G"	"r.(?)"	"p.(His123Arg)"	""
"0000476470"	"00011700"	"50"	"350"	"0"	"350"	"0"	"c.350A>G"	"r.(?)"	"p.(His117Arg)"	""
"0000476471"	"00011700"	"90"	"341"	"0"	"341"	"0"	"c.341dup"	"r.(?)"	"p.(Ile116Tyrfs*3)"	""
"0000476472"	"00011700"	"50"	"101"	"4"	"101"	"4"	"c.101+4C>G"	"r.spl?"	"p.?"	""
"0000476473"	"00011700"	"50"	"97"	"0"	"97"	"0"	"c.97A>G"	"r.(?)"	"p.(Lys33Glu)"	""
"0000476474"	"00011700"	"50"	"97"	"0"	"97"	"0"	"c.97A>C"	"r.(?)"	"p.(Lys33Gln)"	""
"0000477490"	"00011700"	"90"	"341"	"0"	"341"	"0"	"c.341dup"	"r.(?)"	"p.(Ile116Tyrfs*3)"	""
"0000526587"	"00011700"	"30"	"1820"	"0"	"1820"	"0"	"c.1820C>T"	"r.(?)"	"p.(Pro607Leu)"	""
"0000526591"	"00011700"	"30"	"1405"	"0"	"1405"	"0"	"c.1405G>A"	"r.(?)"	"p.(Glu469Lys)"	""
"0000526594"	"00011700"	"30"	"1274"	"0"	"1274"	"0"	"c.1274T>C"	"r.(?)"	"p.(Met425Thr)"	""
"0000526595"	"00011700"	"10"	"1184"	"0"	"1184"	"0"	"c.1184G>T"	"r.(?)"	"p.(Arg395Leu)"	""
"0000526601"	"00011700"	"50"	"565"	"0"	"565"	"0"	"c.565A>G"	"r.(?)"	"p.(Ile189Val)"	""
"0000526602"	"00011700"	"30"	"358"	"9"	"358"	"13"	"c.358+9_358+13del"	"r.(=)"	"p.(=)"	""
"0000526623"	"00011700"	"30"	"36"	"0"	"36"	"0"	"c.36C>T"	"r.(?)"	"p.(Asp12=)"	""
"0000609892"	"00011700"	"30"	"1722"	"0"	"1722"	"0"	"c.1722T>C"	"r.(?)"	"p.(Tyr574=)"	""
"0000609894"	"00011700"	"30"	"975"	"0"	"975"	"0"	"c.975G>A"	"r.(?)"	"p.(Pro325=)"	""
"0000621612"	"00011700"	"50"	"755"	"0"	"755"	"0"	"c.755A>G"	"r.(?)"	"p.(Asn252Ser)"	""
"0000651804"	"00011700"	"50"	"1744"	"0"	"1744"	"0"	"c.1744C>T"	"r.(?)"	"p.(Arg582Trp)"	""
"0000651805"	"00011700"	"30"	"1558"	"0"	"1558"	"0"	"c.1558C>T"	"r.(?)"	"p.(Pro520Ser)"	""
"0000663579"	"00011700"	"50"	"174"	"0"	"174"	"0"	"c.174T>G"	"r.(?)"	"p.(Asn58Lys)"	""
"0000669864"	"00011700"	"30"	"1558"	"0"	"1558"	"0"	"c.1558C>T"	"r.(?)"	"p.(Pro520Ser)"	""
"0000677583"	"00011700"	"30"	"1759"	"0"	"1759"	"0"	"c.1759G>C"	"r.(?)"	"p.(Gly587Arg)"	""
"0000685273"	"00011700"	"90"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.(?)"	"p.(Lys433Argfs*31)"	""
"0000685274"	"00011700"	"90"	"497"	"0"	"497"	"0"	"c.497G>A"	"r.(?)"	"p.(Arg166His)"	""
"0000685275"	"00011700"	"90"	"393"	"0"	"393"	"0"	"c.393delinsACCTT"	"r.(?)"	"p.(Leu132Profs*13)"	""
"0000685851"	"00011700"	"90"	"1284"	"0"	"1285"	"0"	"c.1284_1285insN[353]"	"r.?"	"p.(Lys429?fs*31)"	""
"0000685854"	"00011700"	"90"	"1284"	"0"	"1285"	"0"	"c.1284_1285insN[353]"	"r.?"	"p.(Lys429?fs*31)"	""
"0000685855"	"00011700"	"50"	"1181"	"0"	"1181"	"0"	"c.1181G>C"	"r.(?)"	"p.(Arg394Thr)"	""
"0000685856"	"00011700"	"50"	"1303"	"0"	"1303"	"0"	"c.1303G>T"	"r.(?)"	"p.(Asp435Tyr)"	""
"0000685976"	"00011700"	"90"	"718"	"0"	"718"	"0"	"c.718C>T"	"r.(?)"	"p.(Gln240*)"	""
"0000685977"	"00011700"	"90"	"388"	"0"	"388"	"0"	"c.388A>C"	"r.(?)"	"p.(Asn130His)"	""
"0000685978"	"00011700"	"90"	"37"	"0"	"37"	"0"	"c.37G>A"	"r.(?)"	"p.(Gly13Ser)"	""
"0000685979"	"00011700"	"90"	"79"	"0"	"79"	"0"	"c.79G>C"	"r.(?)"	"p.(Gly27Arg)"	""
"0000685980"	"00011700"	"90"	"79"	"0"	"79"	"0"	"c.79G>A"	"r.79g>a"	"p.Gly27Arg"	""
"0000685981"	"00011700"	"90"	"542"	"0"	"542"	"0"	"c.542T>C"	"r.(?)"	"p.(Ile181Thr)"	""
"0000685982"	"00011700"	"50"	"974"	"0"	"974"	"0"	"c.974C>T"	"r.(?)"	"p.(Pro325Leu)"	""
"0000685983"	"00011700"	"90"	"1284"	"0"	"1285"	"0"	"c.1284_1285insN[353]"	"r.?"	"p.(Lys429?fs*31)"	""
"0000685984"	"00011700"	"90"	"1284"	"0"	"1285"	"0"	"c.1284_1285insN[353]"	"r.?"	"p.(Lys429?fs*31)"	""
"0000685985"	"00011700"	"90"	"1284"	"0"	"1285"	"0"	"c.1284_1285insN[353]"	"r.?"	"p.(Lys429?fs*31)"	""
"0000685986"	"00011700"	"90"	"1284"	"0"	"1285"	"0"	"c.1284_1285insN[353]"	"r.?"	"p.(Lys429?fs*31)"	""
"0000685987"	"00011700"	"90"	"1284"	"0"	"1285"	"0"	"c.1284_1285insN[353]"	"r.?"	"p.(Lys429?fs*31)"	""
"0000685988"	"00011700"	"90"	"1284"	"0"	"1285"	"0"	"c.1284_1285insN[353]"	"r.?"	"p.(Lys429?fs*31)"	""
"0000685989"	"00011700"	"90"	"1284"	"0"	"1285"	"0"	"c.1284_1285insN[353]"	"r.?"	"p.(Lys429?fs*31)"	""
"0000685990"	"00011700"	"90"	"1284"	"0"	"1285"	"0"	"c.1284_1285insN[353]"	"r.?"	"p.(Lys429?fs*31)"	""
"0000685991"	"00011700"	"90"	"1284"	"0"	"1285"	"0"	"c.1284_1285insN[353]"	"r.?"	"p.(Lys429?fs*31)"	""
"0000685992"	"00011700"	"90"	"1284"	"0"	"1285"	"0"	"c.1284_1285insN[353]"	"r.?"	"p.(Lys429?fs*31)"	""
"0000685993"	"00011700"	"90"	"1284"	"0"	"1285"	"0"	"c.1284_1285insN[353]"	"r.?"	"p.(Lys429?fs*31)"	""
"0000685994"	"00011700"	"90"	"1284"	"0"	"1285"	"0"	"c.1284_1285insN[353]"	"r.?"	"p.(Lys429?fs*31)"	""
"0000685995"	"00011700"	"90"	"1284"	"0"	"1285"	"0"	"c.1284_1285insN[353]"	"r.?"	"p.(Lys429?fs*31)"	""
"0000685996"	"00011700"	"90"	"1284"	"0"	"1285"	"0"	"c.1284_1285insN[353]"	"r.?"	"p.(Lys429?fs*31)"	""
"0000685997"	"00011700"	"90"	"1284"	"0"	"1285"	"0"	"c.1284_1285insN[353]"	"r.?"	"p.(Lys429?fs*31)"	""
"0000685998"	"00011700"	"90"	"1284"	"0"	"1285"	"0"	"c.1284_1285insN[353]"	"r.?"	"p.(Lys429?fs*31)"	""
"0000685999"	"00011700"	"90"	"1284"	"0"	"1285"	"0"	"c.1284_1285insN[353]"	"r.?"	"p.(Lys429?fs*31)"	""
"0000686000"	"00011700"	"90"	"1284"	"0"	"1285"	"0"	"c.1284_1285insN[353]"	"r.?"	"p.(Lys429?fs*31)"	""
"0000686001"	"00011700"	"90"	"1284"	"0"	"1285"	"0"	"c.1284_1285insN[353]"	"r.?"	"p.(Lys429?fs*31)"	""
"0000686002"	"00011700"	"90"	"1284"	"0"	"1285"	"0"	"c.1284_1285insN[353]"	"r.?"	"p.(Lys429?fs*31)"	""
"0000686003"	"00011700"	"90"	"388"	"0"	"388"	"0"	"c.388A>C"	"r.(?)"	"p.(Asn130His)"	""
"0000686004"	"00011700"	"90"	"1284"	"0"	"1285"	"0"	"c.1284_1285insN[353]"	"r.?"	"p.(Lys429?fs*31)"	""
"0000686005"	"00011700"	"90"	"66"	"0"	"66"	"0"	"c.66G>Y"	"r.(?)"	"p.(Lys22Asn)"	""
"0000686006"	"00011700"	"90"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.?"	"p.(Lys429?fs*31)"	""
"0000686019"	"00011700"	"90"	"1284"	"0"	"1285"	"0"	"c.1284_1285insN[353]"	"r.?"	"p.(Lys429?fs*31)"	""
"0000686020"	"00011700"	"90"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.?"	"p.(Lys433Argfs*31)"	""
"0000686021"	"00011700"	"90"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.?"	"p.(Lys433Argfs*31)"	""
"0000686022"	"00011700"	"90"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.?"	"p.(Lys433Argfs*31)"	""
"0000686023"	"00011700"	"90"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.?"	"p.(Lys433Argfs*31)"	""
"0000686024"	"00011700"	"90"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.?"	"p.(Lys433Argfs*31)"	""
"0000686025"	"00011700"	"90"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.?"	"p.(Lys433Argfs*31)"	""
"0000686026"	"00011700"	"90"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.?"	"p.(Lys433Argfs*31)"	""
"0000686027"	"00011700"	"90"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.?"	"p.(Lys433Argfs*31)"	""
"0000686028"	"00011700"	"90"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.?"	"p.(Lys433Argfs*31)"	""
"0000686029"	"00011700"	"90"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.?"	"p.(Lys433Argfs*31)"	""
"0000686030"	"00011700"	"90"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.?"	"p.(Lys433Argfs*31)"	""
"0000686031"	"00011700"	"90"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.?"	"p.(Lys433Argfs*31)"	""
"0000686032"	"00011700"	"90"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.?"	"p.(Lys433Argfs*31)"	""
"0000686033"	"00011700"	"90"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.?"	"p.(Lys433Argfs*31)"	""
"0000686039"	"00011700"	"90"	"1195"	"0"	"1196"	"0"	"c.1195_1196del"	"r.(?)"	"p.(Thr399Tyrfs*7)"	""
"0000686040"	"00011700"	"90"	"279"	"-2"	"279"	"-2"	"c.279-2A>G"	"r.spl"	"p.?"	""
"0000686058"	"00011700"	"90"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.?"	"p.(Lys433Argfs*31)"	""
"0000686069"	"00011700"	"90"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.?"	"p.(Lys433Argfs*31)"	""
"0000686070"	"00011700"	"90"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.?"	"p.(Lys433Argfs*31)"	""
"0000686071"	"00011700"	"90"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.?"	"p.(Lys433Argfs*31)"	""
"0000686072"	"00011700"	"90"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.?"	"p.(Lys433Argfs*31)"	""
"0000686073"	"00011700"	"90"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.?"	"p.(Lys433Argfs*31)"	""
"0000686074"	"00011700"	"90"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.?"	"p.(Lys433Argfs*31)"	""
"0000686075"	"00011700"	"90"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.?"	"p.(Lys433Argfs*31)"	""
"0000686076"	"00011700"	"90"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.?"	"p.(Lys433Argfs*31)"	""
"0000686077"	"00011700"	"90"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.?"	"p.(Lys433Argfs*31)"	""
"0000686078"	"00011700"	"90"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.?"	"p.(Lys433Argfs*31)"	""
"0000686079"	"00011700"	"90"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.?"	"p.(Lys433Argfs*31)"	""
"0000686080"	"00011700"	"90"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.?"	"p.(Lys433Argfs*31)"	""
"0000686081"	"00011700"	"90"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.?"	"p.(Lys433Argfs*31)"	""
"0000686082"	"00011700"	"90"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.?"	"p.(Lys433Argfs*31)"	""
"0000686083"	"00011700"	"90"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.?"	"p.(Lys433Argfs*31)"	""
"0000686084"	"00011700"	"90"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.?"	"p.(Lys433Argfs*31)"	""
"0000686085"	"00011700"	"90"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.?"	"p.(Lys433Argfs*31)"	""
"0000686086"	"00011700"	"90"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.?"	"p.(Lys433Argfs*31)"	""
"0000686087"	"00011700"	"90"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.?"	"p.(Lys433Argfs*31)"	""
"0000686088"	"00011700"	"90"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.?"	"p.(Lys433Argfs*31)"	""
"0000686089"	"00011700"	"90"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.?"	"p.(Lys433Argfs*31)"	""
"0000686090"	"00011700"	"90"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.?"	"p.(Lys433Argfs*31)"	""
"0000686091"	"00011700"	"90"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.?"	"p.(Lys433Argfs*31)"	""
"0000686092"	"00011700"	"90"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.?"	"p.(Lys433Argfs*31)"	""
"0000686093"	"00011700"	"90"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.?"	"p.(Lys433Argfs*31)"	""
"0000689598"	"00011700"	"30"	"1404"	"0"	"1404"	"0"	"c.1404C>T"	"r.(?)"	"p.(Ser468=)"	""
"0000729755"	"00011700"	"70"	"323"	"0"	"323"	"0"	"c.323A>G"	"r.(?)"	"p.(Gln108Arg)"	""
"0000729787"	"00011700"	"70"	"175"	"0"	"175"	"0"	"c.175C>T"	"r.(?)"	"p.(His59Tyr)"	""
"0000731041"	"00011700"	"50"	"112"	"0"	"112"	"0"	"c.112A>C"	"r.(?)"	"p.(Lys38Gln)"	""
"0000733077"	"00011700"	"70"	"1284"	"0"	"1285"	"0"	"c.1284_1285insN[353]"	"r.?"	"p.?"	""
"0000733078"	"00011700"	"70"	"1284"	"0"	"1285"	"0"	"c.1284_1285insN[353]"	"r.?"	"p.?"	""
"0000733079"	"00011700"	"70"	"1284"	"0"	"1285"	"0"	"c.1284_1285insN[353]"	"r.?"	"p.?"	""
"0000733080"	"00011700"	"70"	"66"	"0"	"66"	"0"	"c.66G>C"	"r.(?)"	"p.(Lys22Asn)"	""
"0000733142"	"00011700"	"70"	"1284"	"0"	"1285"	"0"	"c.1284_1285insN[353]"	"r.?"	"p.?"	""
"0000733143"	"00011700"	"70"	"1284"	"0"	"1285"	"0"	"c.1284_1285insN[353]"	"r.?"	"p.?"	""
"0000733144"	"00011700"	"70"	"0"	"0"	"0"	"0"	"c.1466-424_*1729{0}"	"r.?"	"p.?"	""
"0000733540"	"00011700"	"70"	"388"	"0"	"388"	"0"	"c.388A>C"	"r.(?)"	"p.(Asn130His)"	""
"0000733589"	"00011700"	"70"	"485"	"0"	"485"	"0"	"c.485C>T"	"r.(?)"	"p.(Thr162Ile)"	""
"0000764907"	"00011700"	"70"	"79"	"0"	"79"	"0"	"c.79G>C"	"r.(?)"	"p.(Gly27Arg)"	""
"0000766052"	"00011700"	"90"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.?"	"p.(Lys433Argfs*31)"	"10"
"0000784220"	"00011700"	"90"	"553"	"0"	"553"	"0"	"c.553G>A"	"r.(?)"	"p.(Ala185Thr)"	""
"0000784434"	"00011700"	"50"	"968"	"0"	"968"	"0"	"c.968C>G"	"r.(?)"	"p.(Pro323Arg)"	""
"0000784549"	"00011700"	"50"	"1126"	"0"	"1126"	"0"	"c.1126G>A"	"r.(?)"	"p.(Val376Ile)"	""
"0000784596"	"00011700"	"90"	"1105"	"0"	"1105"	"0"	"c.1105C>T"	"r.(?)"	"p.(Gln369Ter)"	""
"0000787648"	"00011700"	"70"	"552"	"0"	"552"	"0"	"c.552G>C"	"r.(?)"	"p.(Trp184Cys)"	""
"0000788138"	"00011700"	"70"	"553"	"0"	"553"	"0"	"c.553G>A"	"r.(?)"	"p.(Ala185Thr)"	""
"0000788139"	"00011700"	"70"	"496"	"0"	"496"	"0"	"c.496C>T"	"r.(?)"	"p.(Arg166Cys)"	""
"0000788140"	"00011700"	"70"	"553"	"0"	"553"	"0"	"c.553G>A"	"r.(?)"	"p.(Ala185Thr)"	""
"0000788173"	"00011700"	"70"	"340"	"0"	"340"	"0"	"c.340dup"	"r.(?)"	"p.(Ala114GlyfsTer5)"	""
"0000788340"	"00011700"	"50"	"1459"	"0"	"1459"	"0"	"c.1459C>G"	"r.(?)"	"p.(Leu487Val)"	"11"
"0000790413"	"00011700"	"70"	"1297"	"0"	"1298"	"0"	"c.1297_1298insN[?]"	"r.?"	"p.?"	""
"0000790414"	"00011700"	"70"	"1297"	"0"	"1298"	"0"	"c.1297_1298insN[?]"	"r.?"	"p.?"	""
"0000790415"	"00011700"	"70"	"1297"	"0"	"1298"	"0"	"c.1297_1298insN[?]"	"r.?"	"p.?"	""
"0000790481"	"00011700"	"50"	"1640"	"0"	"1640"	"0"	"c.1640T>C"	"r.(?)"	"p.(?)"	""
"0000790529"	"00011700"	"50"	"1640"	"0"	"1640"	"0"	"c.1640T>C"	"r.(?)"	"p.(?)"	""
"0000790539"	"00011700"	"50"	"1640"	"0"	"1640"	"0"	"c.1640T>C"	"r.(?)"	"p.(?)"	""
"0000790631"	"00011700"	"50"	"8"	"0"	"8"	"0"	"c.8G>A"	"r.(?)"	"p.(Arg3Gln)"	""
"0000791139"	"00011700"	"90"	"1625"	"0"	"1628"	"0"	"c.1625_1628del"	"r.(?)"	"p.(Asn567Serfs*22)"	"13"
"0000791239"	"00011700"	"90"	"359"	"-2"	"359"	"-2"	"c.359-2A>G"	"r.spl"	"p.(?)"	"5i"
"0000791570"	"00011700"	"50"	"565"	"0"	"565"	"0"	"c.565A>G"	"r.(?)"	"p.(Ile189Val)"	"6"
"0000791626"	"00011700"	"50"	"1205"	"0"	"1205"	"0"	"c.1205A>C"	"r.(?)"	"p.(Lys402Thr)"	"9"
"0000792392"	"00011700"	"70"	"553"	"0"	"553"	"0"	"c.553G>A"	"r.(?)"	"p.(Ala185Thr)"	""
"0000792393"	"00011700"	"70"	"502"	"0"	"502"	"0"	"c.502C>G"	"r.(?)"	"p.(Pro168Ala)"	""
"0000797689"	"00011700"	"70"	"1143"	"0"	"1143"	"0"	"c.1143dup"	"r.(?)"	"p.(Lys382*)"	""
"0000797690"	"00011700"	"70"	"814"	"0"	"814"	"0"	"c.814C>T"	"r.(?)"	"p.(Arg272*)"	""
"0000798083"	"00011700"	"70"	"1367"	"0"	"1368"	"0"	"c.1367_1368insT"	"r.(?)"	"p.(Lys456Asnfs*12)"	""
"0000802252"	"00011700"	"30"	"1245"	"0"	"1245"	"0"	"c.1245C>T"	"r.(?)"	"p.(Phe415=)"	""
"0000811942"	"00011700"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.spl"	"p.?"	""
"0000812066"	"00011700"	"70"	"437"	"0"	"437"	"0"	"c.437T>C"	"r.(?)"	"p.(Leu146Pro)"	"5"
"0000812067"	"00011700"	"70"	"1718"	"-2"	"1718"	"-2"	"c.1718-2A>T"	"r.(?)"	"p.(?)"	"13i"
"0000812293"	"00011700"	"70"	"814"	"0"	"814"	"0"	"c.814C>T"	"r.(?)"	"p.(Arg272*)"	"7"
"0000812406"	"00011700"	"70"	"814"	"0"	"814"	"0"	"c.814C>T"	"r.(?)"	"p.(Arg272*)"	"7"
"0000814923"	"00011700"	"70"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.(?)"	"p.(Lys433Argfs*31)"	"10"
"0000814924"	"00011700"	"70"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.(?)"	"p.(Lys433Argfs*31)"	"10"
"0000814925"	"00011700"	"70"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.(?)"	"p.(Lys433Argfs*31)"	"10"
"0000814926"	"00011700"	"70"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.(?)"	"p.(Lys433Argfs*31)"	"10"
"0000814927"	"00011700"	"70"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.(?)"	"p.(Lys433Argfs*31)"	"10"
"0000815606"	"00011700"	"50"	"755"	"0"	"755"	"0"	"c.755A>G"	"r.(?)"	"p.(Asn252Ser)"	""
"0000816285"	"00011700"	"50"	"394"	"0"	"395"	"0"	"c.394_395insCTTC"	"r.(?)"	"p.(Leu132Profs*13)"	""
"0000816742"	"00011700"	"70"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.(?)"	"p.(Lys433Argfs*31)"	""
"0000816743"	"00011700"	"70"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.(?)"	"p.(Lys433Argfs*31)"	""
"0000816744"	"00011700"	"70"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.(?)"	"p.(Lys433Argfs*31)"	""
"0000816745"	"00011700"	"70"	"1297"	"0"	"1298"	"0"	"c.1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]]"	"r.(?)"	"p.(Lys433Argfs*31)"	""
"0000818967"	"00011700"	"70"	"102"	"-1"	"156"	"1"	"c.(101+1_102-1)_(156+1_157-1)del"	"r.?"	"p.?"	"2i_3i"
"0000819945"	"00011700"	"70"	"1632"	"0"	"1632"	"0"	"c.1632del"	"r.(?)"	"p.(Gly545Aspfs*20)"	""
"0000819948"	"00011700"	"70"	"79"	"0"	"79"	"0"	"c.79G>C"	"r.(?)"	"p.(Gly27Arg)"	""
"0000820106"	"00011700"	"70"	"1701"	"0"	"1704"	"0"	"c.1701_1704del"	"r.(?)"	"p.(Asn568Glnfs*29)"	""
"0000827290"	"00011700"	"90"	"1519"	"0"	"1519"	"0"	"c.1519dup"	"r.(?)"	"p.(His507Profs*85)"	"12"
"0000827291"	"00011700"	"90"	"101"	"1"	"101"	"1"	"c.101+1G>T"	"r.spl?"	"p.?"	"2i"
"0000827292"	"00011700"	"90"	"79"	"0"	"79"	"0"	"c.79G>A"	"r.(?)"	"p.(Gly27Arg)"	"2"
"0000829968"	"00011700"	"50"	"512"	"0"	"512"	"0"	"c.512T>C"	"r.(?)"	"p.(Leu171Ser)"	"7"
"0000829969"	"00011700"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	"14"
"0000846774"	"00011700"	"70"	"1297"	"0"	"1298"	"0"	"c.(1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]])"	"r.(?)"	"p.(Lys429 insAlu_353bp)"	""
"0000846775"	"00011700"	"70"	"1297"	"0"	"1298"	"0"	"c.(1297_1298ins[NC_000004.11:g.106370094_106370420;A[26]])"	"r.(?)"	"p.(Lys429 insAlu_353bp)"	""
"0000846776"	"00011700"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.(Ser551fs)"	""
"0000851026"	"00011700"	"30"	"1110"	"0"	"1110"	"0"	"c.1110G>C"	"r.(?)"	"p.(Thr370=)"	""
"0000860058"	"00011700"	"50"	"1831"	"0"	"1831"	"0"	"c.1831G>A"	"r.(?)"	"p.(Gly611Arg)"	""
"0000860060"	"00011700"	"50"	"269"	"0"	"269"	"0"	"c.269T>G"	"r.(?)"	"p.(Met90Arg)"	""
"0000886974"	"00011700"	"30"	"1317"	"-15"	"1317"	"-15"	"c.1317-15del"	"r.(=)"	"p.(=)"	""
"0000886975"	"00011700"	"30"	"1151"	"0"	"1151"	"0"	"c.1151A>G"	"r.(?)"	"p.(Asn384Ser)"	""
"0000886976"	"00011700"	"90"	"1084"	"0"	"1085"	"0"	"c.1084_1085del"	"r.(?)"	"p.(Gln362Glufs*20)"	""
"0000916745"	"00011700"	"50"	"637"	"0"	"637"	"0"	"c.637T>C"	"r.(?)"	"p.(Cys213Arg)"	"7"
"0000958073"	"00011700"	"90"	"475"	"0"	"475"	"0"	"c.475del"	"r.(?)"	"p.(Tyr159MetfsTer14)"	""
"0000958673"	"00011700"	"90"	"639"	"0"	"639"	"0"	"c.639C>A"	"r.(?)"	"p.(Cys213Ter)"	""
"0000959083"	"00011700"	"70"	"831"	"1630"	"1143"	"861"	"c.831+1630_1143+861delinsCTCCAGCCTGG"	"r.?"	"p.?"	""
"0000976915"	"00011700"	"50"	"32"	"0"	"32"	"0"	"c.32G>A"	"r.(?)"	"p.(Gly11Glu)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 190
"{{screeningid}}"	"{{variantid}}"
"0000000122"	"0000791626"
"0000156359"	"0000358281"
"0000156360"	"0000358282"
"0000233737"	"0000476445"
"0000233738"	"0000476446"
"0000233739"	"0000476447"
"0000233740"	"0000476448"
"0000233741"	"0000476449"
"0000233742"	"0000476450"
"0000233743"	"0000476451"
"0000233744"	"0000476452"
"0000233745"	"0000476453"
"0000233746"	"0000476454"
"0000233747"	"0000476455"
"0000233748"	"0000476456"
"0000233749"	"0000476457"
"0000233750"	"0000476458"
"0000233751"	"0000476459"
"0000233752"	"0000476460"
"0000233753"	"0000476461"
"0000233754"	"0000476462"
"0000233755"	"0000476463"
"0000233756"	"0000476464"
"0000233757"	"0000476465"
"0000233758"	"0000476466"
"0000233759"	"0000476467"
"0000233760"	"0000476468"
"0000233761"	"0000476469"
"0000233762"	"0000476470"
"0000233763"	"0000476471"
"0000233764"	"0000476472"
"0000233765"	"0000476473"
"0000233766"	"0000476474"
"0000234782"	"0000477490"
"0000295115"	"0000651804"
"0000295116"	"0000651805"
"0000300751"	"0000663579"
"0000306176"	"0000669864"
"0000310362"	"0000685273"
"0000310363"	"0000685274"
"0000310364"	"0000685275"
"0000310364"	"0000686058"
"0000310827"	"0000685851"
"0000310828"	"0000685854"
"0000310829"	"0000685855"
"0000310830"	"0000685856"
"0000310837"	"0000685976"
"0000310838"	"0000685977"
"0000310839"	"0000685978"
"0000310840"	"0000685979"
"0000310840"	"0000685981"
"0000310841"	"0000685980"
"0000310842"	"0000685982"
"0000310843"	"0000685983"
"0000310844"	"0000685984"
"0000310845"	"0000685985"
"0000310846"	"0000685986"
"0000310847"	"0000685987"
"0000310848"	"0000685988"
"0000310849"	"0000685989"
"0000310850"	"0000685990"
"0000310851"	"0000685991"
"0000310852"	"0000685992"
"0000310853"	"0000685993"
"0000310854"	"0000685994"
"0000310855"	"0000685995"
"0000310856"	"0000685996"
"0000310857"	"0000685997"
"0000310858"	"0000685998"
"0000310859"	"0000685999"
"0000310860"	"0000686000"
"0000310861"	"0000686001"
"0000310862"	"0000686002"
"0000310863"	"0000686003"
"0000310863"	"0000686005"
"0000310864"	"0000686004"
"0000310865"	"0000686006"
"0000310879"	"0000686019"
"0000310880"	"0000686020"
"0000310881"	"0000686021"
"0000310882"	"0000686022"
"0000310883"	"0000686023"
"0000310884"	"0000686024"
"0000310885"	"0000686025"
"0000310886"	"0000686026"
"0000310887"	"0000686027"
"0000310888"	"0000686028"
"0000310889"	"0000686029"
"0000310890"	"0000686030"
"0000310891"	"0000686031"
"0000310892"	"0000686032"
"0000310893"	"0000686033"
"0000310899"	"0000686039"
"0000310899"	"0000686040"
"0000310925"	"0000686069"
"0000310926"	"0000686070"
"0000310927"	"0000686071"
"0000310928"	"0000686072"
"0000310929"	"0000686073"
"0000310930"	"0000686074"
"0000310931"	"0000686075"
"0000310932"	"0000686076"
"0000310933"	"0000686077"
"0000310934"	"0000686078"
"0000310935"	"0000686079"
"0000310936"	"0000686080"
"0000310937"	"0000686081"
"0000310938"	"0000686082"
"0000310939"	"0000686083"
"0000310940"	"0000686084"
"0000310941"	"0000686085"
"0000310942"	"0000686086"
"0000310943"	"0000686087"
"0000310944"	"0000686088"
"0000310945"	"0000686089"
"0000310946"	"0000686090"
"0000310947"	"0000686091"
"0000310948"	"0000686092"
"0000310949"	"0000686093"
"0000332500"	"0000729755"
"0000332500"	"0000729787"
"0000333413"	"0000731041"
"0000335068"	"0000733077"
"0000335069"	"0000733078"
"0000335070"	"0000733079"
"0000335071"	"0000733080"
"0000335071"	"0000733540"
"0000335133"	"0000733142"
"0000335134"	"0000733143"
"0000335135"	"0000733144"
"0000335135"	"0000733589"
"0000364145"	"0000764907"
"0000365098"	"0000766052"
"0000373860"	"0000784549"
"0000373906"	"0000784434"
"0000373907"	"0000784220"
"0000373907"	"0000784596"
"0000376115"	"0000787648"
"0000376530"	"0000788138"
"0000376531"	"0000788139"
"0000376532"	"0000788140"
"0000376532"	"0000788173"
"0000376612"	"0000788340"
"0000377959"	"0000790481"
"0000377963"	"0000790413"
"0000377964"	"0000790414"
"0000377965"	"0000790415"
"0000377971"	"0000790529"
"0000377973"	"0000790539"
"0000377999"	"0000790631"
"0000378384"	"0000791139"
"0000378384"	"0000791239"
"0000378717"	"0000791570"
"0000379256"	"0000792392"
"0000379256"	"0000792393"
"0000383535"	"0000797689"
"0000383535"	"0000797690"
"0000383816"	"0000798083"
"0000385071"	"0000811942"
"0000385169"	"0000812066"
"0000385169"	"0000812067"
"0000385310"	"0000812293"
"0000385376"	"0000812406"
"0000387069"	"0000814923"
"0000387070"	"0000814924"
"0000387071"	"0000814925"
"0000387072"	"0000814926"
"0000387073"	"0000814927"
"0000387435"	"0000815606"
"0000388127"	"0000816285"
"0000388282"	"0000816742"
"0000388283"	"0000816743"
"0000388284"	"0000816744"
"0000388285"	"0000816745"
"0000389733"	"0000818967"
"0000390600"	"0000819945"
"0000390603"	"0000819948"
"0000390761"	"0000820106"
"0000395853"	"0000827290"
"0000395853"	"0000827291"
"0000395854"	"0000827292"
"0000397853"	"0000829968"
"0000397853"	"0000829969"
"0000409589"	"0000846774"
"0000409590"	"0000846775"
"0000409591"	"0000846776"
"0000431540"	"0000916745"
"0000448587"	"0000958073"
"0000448906"	"0000958673"
"0000448906"	"0000959083"