### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = C1QTNF5)
# 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}}"
"C1QTNF5"	"C1q and tumor necrosis factor related protein 5"	"11"	"q23.3"	"unknown"	"NG_012235.1"	"UD_132085369159"	""	"https://www.LOVD.nl/C1QTNF5"	""	"1"	"14344"	"114902"	"608752"	"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>."	""	""	""	"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"	"2020-11-12 11:28:36"	"00000"	"2025-02-07 18:57:27"


## Transcripts ## Do not remove or alter this header ##
## Count = 2
"{{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}}"
"00003652"	"C1QTNF5"	"C1q and tumor necrosis factor related protein 5"	"001"	"NM_015645.3"	""	"NP_056460.1"	""	""	""	"-2796"	"1121"	"732"	"119217383"	"119209652"	""	"0000-00-00 00:00:00"	""	""
"00025897"	"C1QTNF5"	"transcript variant 2"	"005"	"NM_001278431.1"	""	"NP_001265360.1"	""	""	""	"-232"	"1129"	"732"	"119211593"	"119209644"	"00006"	"2024-01-25 15:51:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 4
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"02559"	"LORD"	"retinal degeneration, late-onset (LORD)"	"AD"	"605670"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2020-11-12 11:21:50"
"04213"	"COD"	"dystrophy, cone (COD)"	""	""	""	""	""	"00006"	"2015-02-27 19:22:18"	""	""
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"C1QTNF5"	"02559"


## Individuals ## Do not remove or alter this header ##
## Count = 209
"{{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}}"
"00290267"	""	""	""	"12"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00324526"	""	""	""	"1"	""	"03960"	"{PMID:Kominami 2019:31390656}, {PMID:Kominami 2017:29220607}, {DOI:Kominami 2017:10.1080/13816810.2017.1408846}"	"2-generation family, 1 affected, unaffected parents"	"M"	"no"	"Japan"	">20y"	"0"	""	""	""	"patient"
"00328050"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Europe"	"G001421"
"00328078"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Europe"	"G004994"
"00332045"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:29555955}"	"patient"	"F"	""	"Germany"	""	"0"	""	""	""	"Pat183"
"00334574"	""	""	""	"6"	""	"00000"	"{PMID:Vincent 2017:28488341}"	"family, 6 affected, patient, brother, sister\'s son, three daughters"	"M"	"no"	"Samoa"	""	"0"	""	""	""	"166"
"00335959"	""	""	""	"1"	""	"00000"	"{PMID:Sergouniotis 2016:27628848}"	"analysis 486 cases"	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00359208"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"patient"	""	""	""	""	"0"	""	""	""	"12002569"
"00372065"	""	""	""	"1"	""	"00000"	"{PMID:Almoguera 2015:26197217}"	"family"	""	""	"Spain"	""	"0"	""	""	""	"RP-0911"
"00372519"	""	""	""	"1"	""	"00006"	"{PMID:Xu 2015:25999675}"	"2-generation family, 1 affected, unaffected carrier parents"	"M"	""	"China"	""	"0"	""	""	""	"RP240"
"00377489"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Spain"	""	"0"	""	""	""	"RP-2760"
"00377490"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Spain"	""	"0"	""	""	""	"RP-0488"
"00377491"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Spain"	""	"0"	""	""	""	"RP-2409"
"00377492"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Spain"	""	"0"	""	""	""	"RP-0911"
"00384329"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31106028}"	""	"M"	""	"China"	""	"0"	""	""	""	"13706"
"00386160"	""	""	""	"1"	""	"00000"	"{PMID:RodriguezjalopezMunoz 2020:32036094}"	"family fRPN-100, proband"	"M"	""	"Spain"	""	"0"	""	""	""	"RPN-234"
"00386161"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	"family fRPN-100, family member"	"F"	""	"Spain"	""	"0"	""	""	""	"RPN-509"
"00386162"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	"family fRPN-100, family member"	"F"	""	"Spain"	""	"0"	""	""	""	"RPN-552"
"00386163"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	"family fRPN-100, family member"	"F"	""	"Spain"	""	"0"	""	""	""	"RPN-640"
"00386247"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	"family fRPN-214, proband"	"M"	""	"Spain"	""	"0"	""	""	""	"RPN-482"
"00390177"	""	""	""	"1"	""	"00000"	"{PMID:Turro 2020:32581362}"	"only individuals with mutations in retinal disease genes from this publication were inserted into LOVD"	"?"	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	"G004994"
"00390306"	""	""	""	"1"	""	"00000"	"{PMID:Turro 2020:32581362}"	"only individuals with mutations in retinal disease genes from this publication were inserted into LOVD"	"?"	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	"G001421"
"00414619"	""	""	""	"1"	""	"00000"	"{PMID:Hayward 2003:12944416}"	"family L2"	"?"	""	""	""	"0"	""	""	""	"L2_IV:15"
"00414620"	""	""	""	"1"	""	"00000"	"{PMID:Hayward 2003:12944416}"	"family L2"	"?"	""	""	""	"0"	""	""	""	"L2_IV:22"
"00414621"	""	""	""	"1"	""	"00000"	"{PMID:Hayward 2003:12944416}"	"family L2"	"?"	""	""	""	"0"	""	""	""	"L2_V:25"
"00414622"	""	""	""	"1"	""	"00000"	"{PMID:Hayward 2003:12944416}"	"family L2"	"?"	""	""	""	"0"	""	""	""	"L2_V:26"
"00414623"	""	""	""	"1"	""	"00000"	"{PMID:Hayward 2003:12944416}"	"family L2"	"?"	""	""	""	"0"	""	""	""	"L2_V:28"
"00414624"	""	""	""	"1"	""	"00000"	"{PMID:Hayward 2003:12944416}"	"family L2"	"?"	""	""	""	"0"	""	""	""	"L2_V:33"
"00414625"	""	""	""	"1"	""	"00000"	"{PMID:Hayward 2003:12944416}"	"family L2"	"?"	""	""	""	"0"	""	""	""	"L2_V:36"
"00414626"	""	""	""	"1"	""	"00000"	"{PMID:Hayward 2003:12944416}"	"family L2"	"?"	""	""	""	"0"	""	""	""	"L2_V:37"
"00414627"	""	""	""	"1"	""	"00000"	"{PMID:Hayward 2003:12944416}"	"family L2"	"?"	""	""	""	"0"	""	""	""	"L2_V:38"
"00414628"	""	""	""	"1"	""	"00000"	"{PMID:Hayward 2003:12944416}"	"family L2"	"?"	""	""	""	"0"	""	""	""	"L2_V:39"
"00414629"	""	""	""	"1"	""	"00000"	"{PMID:Hayward 2003:12944416}"	"family L2"	"?"	""	""	""	"0"	""	""	""	"L2_V:40"
"00414630"	""	""	""	"1"	""	"00000"	"{PMID:Hayward 2003:12944416}"	"family L2"	"?"	""	""	""	"0"	""	""	""	"L2_V:41"
"00414631"	""	""	""	"1"	""	"00000"	"{PMID:Hayward 2003:12944416}"	"family L3"	"?"	""	""	""	"0"	""	""	""	"L3_3"
"00414632"	""	""	""	"1"	""	"00000"	"{PMID:Hayward 2003:12944416}"	"family L3"	"?"	""	""	""	"0"	""	""	""	"L3_4"
"00414633"	""	""	""	"1"	""	"00000"	"{PMID:Hayward 2003:12944416}"	"family L8"	"?"	""	""	""	"0"	""	""	""	"L8_3"
"00414634"	""	""	""	"1"	""	"00000"	"{PMID:Hayward 2003:12944416}"	"family L8"	"?"	""	""	""	"0"	""	""	""	"L8_4"
"00414635"	""	""	""	"1"	""	"00000"	"{PMID:Hayward 2003:12944416}"	"family L8"	"?"	""	""	""	"0"	""	""	""	"L8_7"
"00414636"	""	""	""	"1"	""	"00000"	"{PMID:Hayward 2003:12944416}"	"family L15"	"?"	""	""	""	"0"	""	""	""	"L15_1"
"00414637"	""	""	""	"1"	""	"00000"	"{PMID:Hayward 2003:12944416}"	"family L15"	"?"	""	""	""	"0"	""	""	""	"L15_2"
"00414638"	""	""	""	"1"	""	"00000"	"{PMID:Hayward 2003:12944416}"	"family L16"	"?"	""	""	""	"0"	""	""	""	"L16_1"
"00414639"	""	""	""	"1"	""	"00000"	"{PMID:Hayward 2003:12944416}"	"family L18"	"?"	""	""	""	"0"	""	""	""	"L18_1"
"00414640"	""	""	""	"1"	""	"00000"	"{PMID:Hayward 2003:12944416}"	"family L18"	"?"	""	""	""	"0"	""	""	""	"L18_3"
"00414641"	""	""	""	"1"	""	"00000"	"{PMID:Hayward 2003:12944416}"	"family L18"	"?"	""	""	""	"0"	""	""	""	"L18_2"
"00414642"	""	""	""	"1"	""	"00000"	"{PMID:Hayward 2003:12944416}"	"family L18"	"?"	""	""	""	"0"	""	""	""	"L18_4"
"00414671"	""	""	""	"1"	""	"00000"	"{PMID:Ayyagari 2005:16123441}"	"family UM:H389"	"?"	""	""	""	"0"	""	""	""	"III:3"
"00414672"	""	""	""	"1"	""	"00000"	"{PMID:Ayyagari 2005:16123441}"	"family UM:H390"	"?"	""	""	""	"0"	""	""	""	"III:12"
"00414673"	""	""	""	"1"	""	"00000"	"{PMID:Ayyagari 2005:16123441}"	"family UM:H391"	"?"	""	""	""	"0"	""	""	""	"IV:1"
"00414674"	""	""	""	"1"	""	"00000"	"{PMID:Ayyagari 2005:16123441}"	"family UM:H392"	"?"	""	""	""	"0"	""	""	""	"IV:8"
"00414675"	""	""	""	"1"	""	"00000"	"{PMID:Ayyagari 2005:16123441}"	"family UM:H393"	"?"	""	""	""	"0"	""	""	""	"IV:11"
"00414676"	""	""	""	"1"	""	"00000"	"{PMID:Ayyagari 2005:16123441}"	"family UM:H394"	"?"	""	""	""	"0"	""	""	""	"IV:13"
"00414677"	""	""	""	"1"	""	"00000"	"{PMID:Ayyagari 2005:16123441}"	"family UM:H395"	"?"	""	""	""	"0"	""	""	""	"IV:17"
"00414678"	""	""	""	"1"	""	"00000"	"{PMID:Ayyagari 2005:16123441}"	"family UM:H396"	"?"	""	""	""	"0"	""	""	""	"IV:20"
"00414679"	""	""	""	"1"	""	"00000"	"{PMID:Ayyagari 2005:16123441}"	"family UM:H397"	"?"	""	""	""	"0"	""	""	""	"IV:29"
"00414680"	""	""	""	"1"	""	"00000"	"{PMID:Ayyagari 2005:16123441}"	"family UM:H398"	"?"	""	""	""	"0"	""	""	""	"V:4"
"00414681"	""	""	""	"1"	""	"00000"	"{PMID:Ayyagari 2005:16123441}"	"family UM:H399"	"?"	""	""	""	"0"	""	""	""	"V:9"
"00414682"	""	""	""	"1"	""	"00000"	"{PMID:Ayyagari 2005:16123441}"	"family UM:H400"	"?"	""	""	""	"0"	""	""	""	"V:11"
"00414683"	""	""	""	"1"	""	"00000"	"{PMID:Ayyagari 2005:16123441}"	"family UM:H401"	"?"	""	""	""	"0"	""	""	""	"V:12"
"00414684"	""	""	""	"1"	""	"00000"	"{PMID:Ayyagari 2005:16123441}"	"family UM:H402"	"?"	""	""	""	"0"	""	""	""	"V:13"
"00414685"	""	""	""	"1"	""	"00000"	"{PMID:Ayyagari 2005:16123441}"	"family UM:H403"	"?"	""	""	""	"0"	""	""	""	"V:20"
"00414686"	""	""	""	"1"	""	"00000"	"{PMID:Ayyagari 2005:16123441}"	"family UM:H404"	"?"	""	""	""	"0"	""	""	""	"V:32"
"00414687"	""	""	""	"1"	""	"00000"	"{PMID:Ayyagari 2005:16123441}"	"family UM:H405"	"?"	""	""	""	"0"	""	""	""	"V:34"
"00414688"	""	""	""	"1"	""	"00000"	"{PMID:Ayyagari 2005:16123441}"	"family UM:H406"	"?"	""	""	""	"0"	""	""	""	"V:35"
"00414689"	""	""	""	"1"	""	"00000"	"{PMID:Ayyagari 2005:16123441}"	"family UM:H407"	"?"	""	""	""	"0"	""	""	""	"V:39"
"00414690"	""	""	""	"1"	""	"00000"	"{PMID:Ayyagari 2005:16123441}"	"family UM:H408"	"?"	""	""	""	"0"	""	""	""	"V:42"
"00414691"	""	""	""	"1"	""	"00000"	"{PMID:Ayyagari 2005:16123441}"	"family UM:H409; not available for clinical examination"	"?"	""	""	""	"0"	""	""	""	"V:60"
"00414692"	""	""	""	"1"	""	"00000"	"{PMID:Ayyagari 2005:16123441}"	"family UM:H409; not available for clinical examination"	"?"	""	""	""	"0"	""	""	""	"V:62"
"00414693"	""	""	""	"1"	""	"00000"	"{PMID:Ayyagari 2005:16123441}"	"family UM:H411"	"?"	""	""	""	"0"	""	""	""	"VI:8"
"00414694"	""	""	""	"1"	""	"00000"	"{PMID:Ayyagari 2005:16123441}"	"family UM:H412"	"?"	""	""	""	"0"	""	""	""	"VI:9"
"00414695"	""	""	""	"1"	""	"00000"	"{PMID:Ayyagari 2005:16123441}"	"family UM:H412"	"?"	""	""	""	"0"	""	""	""	"VI:10"
"00414696"	""	""	""	"1"	""	"00000"	"{PMID:Ayyagari 2005:16123441}"	"family UM:H412"	"?"	""	""	""	"0"	""	""	""	"VI:11"
"00414697"	""	""	""	"1"	""	"00000"	"{PMID:Ayyagari 2005:16123441}"	"family UM:H412"	"?"	""	""	""	"0"	""	""	""	"VI:12"
"00414698"	""	""	""	"1"	""	"00000"	"{PMID:Ayyagari 2005:16123441}"	"family UM:H412"	"?"	""	""	""	"0"	""	""	""	"VI:13"
"00414707"	""	""	""	"1"	""	"00000"	"{PMID:Subrayan 2005:16376663}"	""	"F"	""	""	""	"0"	""	""	""	"?"
"00414708"	""	""	""	"1"	""	"00000"	"{PMID:Shu 2006:16600989}"	"in vitro protein studies"	""	""	""	""	"0"	""	""	""	"?"
"00414709"	""	""	""	"1"	""	"00000"	"{PMID:Vincent 2012:22277927}"	""	"M"	""	""	""	"0"	""	""	""	"II2"
"00414710"	""	""	""	"1"	""	"00000"	"{PMID:Vincent 2012:22277927}"	""	"M"	""	""	""	"0"	""	""	""	"II4"
"00414711"	""	""	""	"1"	""	"00000"	"{PMID:Vincent 2012:22277927}"	""	"F"	""	""	""	"0"	""	""	""	"III4"
"00414712"	""	""	""	"1"	""	"00000"	"{PMID:Soumplis 2013:23289492}"	""	"?"	""	""	""	"0"	""	""	""	"1"
"00414713"	""	""	""	"1"	""	"00000"	"{PMID:Soumplis 2013:23289492}"	""	"?"	""	""	""	"0"	""	""	""	"2"
"00414714"	""	""	""	"1"	""	"00000"	"{PMID:Soumplis 2013:23289492}"	""	"?"	""	""	""	"0"	""	""	""	"3"
"00414715"	""	""	""	"1"	""	"00000"	"{PMID:Soumplis 2013:23289492}"	""	"?"	""	""	""	"0"	""	""	""	"4"
"00414716"	""	""	""	"1"	""	"00000"	"{PMID:Papastavrou 2015:25863850}"	""	"M"	""	""	""	"0"	""	""	""	"1"
"00414717"	""	""	""	"1"	""	"00000"	"{PMID:Papastavrou 2015:25863850}"	""	"F"	""	""	""	"0"	""	""	""	"2"
"00414718"	""	""	""	"1"	""	"00000"	"{PMID:Papastavrou 2015:25863850}"	""	"F"	""	""	""	"0"	""	""	""	"3"
"00414719"	""	""	""	"1"	""	"00000"	"{PMID:Papastavrou 2015:25863850}"	""	"F"	""	""	""	"0"	""	""	""	"4"
"00414720"	""	""	""	"1"	""	"00000"	"{PMID:Papastavrou 2015:25863850}"	""	"F"	""	""	""	"0"	""	""	""	"5"
"00414721"	""	""	""	"1"	""	"00000"	"{PMID:Papastavrou 2015:25863850}"	""	"M"	""	""	""	"0"	""	""	""	"6"
"00414722"	""	""	""	"1"	""	"00000"	"{PMID:Papastavrou 2015:25863850}"	""	"F"	""	""	""	"0"	""	""	""	"7"
"00414723"	""	""	""	"1"	""	"00000"	"{PMID:Papastavrou 2015:25863850}"	""	"F"	""	""	""	"0"	""	""	""	"8"
"00414724"	""	""	""	"1"	""	"00000"	"{PMID:Papastavrou 2015:25863850}"	""	"F"	""	""	""	"0"	""	""	""	"9"
"00414725"	""	""	""	"1"	""	"00000"	"{PMID:Stanton 2017:28939808}"	"family 1"	"M"	""	""	""	"0"	""	""	""	"IV:I"
"00414726"	""	""	""	"1"	""	"00000"	"{PMID:Stanton 2017:28939808}"	"family 1"	"F"	""	""	""	"0"	""	""	""	"IV:II"
"00414727"	""	""	""	"1"	""	"00000"	"{PMID:Stanton 2017:28939808}"	"family 1"	"F"	""	""	""	"0"	""	""	""	"V:I"
"00414728"	""	""	""	"1"	""	"00000"	"{PMID:Stanton 2017:28939808}"	"family 1"	"M"	""	""	""	"0"	""	""	""	"V:III"
"00414729"	""	""	""	"1"	""	"00000"	"{PMID:Stanton 2017:28939808}"	"family 1"	"M"	""	""	""	"0"	""	""	""	"V:VI"
"00414730"	""	""	""	"1"	""	"00000"	"{PMID:Stanton 2017:28939808}"	"family 1"	"M"	""	""	""	"0"	""	""	""	"V:VII"
"00414731"	""	""	""	"1"	""	"00000"	"{PMID:Stanton 2017:28939808}"	"family 2"	"M"	""	""	""	"0"	""	""	""	"II:I"
"00414732"	""	""	""	"1"	""	"00000"	"{PMID:Stanton 2017:28939808}"	"family 2"	"M"	""	""	""	"0"	""	""	""	"II:II"
"00414733"	""	""	""	"1"	""	"00000"	"{PMID:Stanton 2017:28939808}"	"family 2"	"M"	""	""	""	"0"	""	""	""	"II:III"
"00414734"	""	""	""	"1"	""	"00000"	"{PMID:Stanton 2017:28939808}"	"family 3"	"M"	""	""	""	"0"	""	""	""	"III:I"
"00415047"	""	""	""	"1"	""	"00000"	"{PMID:Sundin 2005:15976030}"	"kindred A; proband"	"F"	""	""	""	"0"	""	""	"Amish-Mennonite"	"A_IV:5"
"00415048"	""	""	""	"1"	""	"00000"	"{PMID:Sundin 2005:15976030}"	"kindred A"	"M"	""	""	""	"0"	""	""	"Amish-Mennonite"	"A_IV:6"
"00415049"	""	""	""	"1"	""	"00000"	"{PMID:Sundin 2005:15976030}"	"kindred A"	"M"	""	""	""	"0"	""	""	"Amish-Mennonite"	"A_IV:7"
"00415050"	""	""	""	"1"	""	"00000"	"{PMID:Sundin 2005:15976030}"	"kindred A"	"M"	""	""	""	"0"	""	""	"Amish-Mennonite"	"A_IV:8"
"00415051"	""	""	""	"1"	""	"00000"	"{PMID:Sundin 2005:15976030}"	"kindred A"	"M"	""	""	""	"0"	""	""	"Amish-Mennonite"	"A_V:14"
"00415052"	""	""	""	"1"	""	"00000"	"{PMID:Sundin 2005:15976030}"	"kindred A"	"M"	""	""	""	"0"	""	""	""	"B_1"
"00415053"	""	""	""	"1"	""	"00000"	"{PMID:Sundin 2005:15976030}"	"kindred C"	"F"	""	""	""	"0"	""	""	""	"C_II:1"
"00415054"	""	""	""	"1"	""	"00000"	"{PMID:Sundin 2005:15976030}"	"kindred C"	"F"	""	""	""	"0"	""	""	""	"C_II:2"
"00415056"	""	""	""	"1"	""	"00000"	"{PMID:Ayala-Ramirez 2006:17167404}"	"proband"	"F"	"yes"	""	""	"0"	""	""	"Mexican"	"1"
"00415057"	""	""	""	"1"	""	"00000"	"{PMID:Ayala-Ramirez 2006:17167404}"	"proband\'s sibling 1"	"M"	"yes"	""	""	"0"	""	""	"Mexican"	"2"
"00415058"	""	""	""	"1"	""	"00000"	"{PMID:Ayala-Ramirez 2006:17167404}"	"proband\'s sibling 2"	"F"	"yes"	""	""	"0"	""	""	"Mexican"	"3"
"00415059"	""	""	""	"1"	""	"00000"	"{PMID:Ayala-Ramirez 2006:17167404}"	"proband\'s sibling 3"	"M"	"yes"	""	""	"0"	""	""	"Mexican"	"4"
"00415078"	""	""	""	"1"	""	"00000"	"{PMID:Crespi 2008:18554571}"	"parents first cousins"	"?"	"yes"	""	""	"0"	""	""	"Spanish"	"1"
"00415079"	""	""	""	"1"	""	"00000"	"{PMID:Crespi 2008:18554571}"	"parents first cousins"	"?"	"yes"	""	""	"0"	""	""	"Spanish"	"2"
"00415080"	""	""	""	"1"	""	"00000"	"{PMID:Crespi 2008:18554571}"	"parents first cousins"	"?"	"yes"	""	""	"0"	""	""	"Spanish"	"3"
"00415088"	""	""	""	"1"	""	"00000"	"{PMID:Aung 2008:18648522}"	"case-control study"	"?"	""	""	""	"0"	""	""	"Chinese"	"?"
"00415089"	""	""	""	"1"	""	"00000"	"{PMID:Aung 2008:18648522}"	"case-control study"	"?"	""	""	""	"0"	""	""	"Chinese"	"?"
"00415090"	""	""	""	"1"	""	"00000"	"{PMID:Aung 2008:18648522}"	"case-control study"	"?"	""	""	""	"0"	""	""	"Chinese"	"?"
"00415091"	""	""	""	"1"	""	"00000"	"{PMID:Aung 2008:18648522}"	"case-control study"	"?"	""	""	""	"0"	""	""	"Chinese"	"?"
"00415092"	""	""	""	"1"	""	"00000"	"{PMID:Aung 2008:18648522}"	"case-control study"	"?"	""	""	""	"0"	""	""	"Chinese"	"?"
"00415093"	""	""	""	"1"	""	"00000"	"{PMID:Aung 2008:18648522}"	"case-control study"	"?"	""	""	""	"0"	""	""	"Chinese"	"?"
"00415098"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2009:19169412}"	"case-control study: 51 cases, 96 controls"	"?"	""	""	""	"0"	""	""	"Chinese"	"?"
"00415099"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2009:19169412}"	"case-control study: 51 cases, 96 controls"	"?"	""	""	""	"0"	""	""	"Chinese"	"?"
"00415100"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2009:19169412}"	"case-control study: 51 cases, 96 controls"	"?"	""	""	""	"0"	""	""	"Chinese"	"?"
"00415101"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2009:19169412}"	"case-control study: 51 cases, 96 controls"	"?"	""	""	""	"0"	""	""	"Chinese"	"?"
"00415102"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2009:19169412}"	"case-control study: 51 cases, 96 controls"	"?"	""	""	""	"0"	""	""	"Chinese"	"?"
"00415103"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2009:19169412}"	"case-control study: 51 cases, 96 controls"	"?"	""	""	""	"0"	""	""	"Chinese"	"?"
"00415104"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2009:19169412}"	"case-control study: 51 cases, 96 controls"	"?"	""	""	""	"0"	""	""	"Chinese"	"?"
"00415105"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2009:19169412}"	"case-control study: 51 cases, 96 controls"	"?"	""	""	""	"0"	""	""	"Chinese"	"?"
"00415106"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2009:19169412}"	"case-control study: 51 cases, 96 controls"	"?"	""	""	""	"0"	""	""	"Chinese"	"?"
"00415107"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2009:19169412}"	"case-control study: 51 cases, 96 controls"	"?"	""	""	""	"0"	""	""	"Chinese"	"?"
"00415108"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2009:19169412}"	"case-control study: 51 cases, 96 controls"	"?"	""	""	""	"0"	""	""	"Chinese"	"?"
"00415111"	""	""	""	"1"	""	"00000"	"{PMID:Zenteno 2009:19753314}"	"Patient #1, sister of Patient #2"	"F"	""	""	""	"0"	""	""	"Mexican"	"Patient #1"
"00415112"	""	""	""	"1"	""	"00000"	"{PMID:Zenteno 2009:19753314}"	"Patient #2, brother of Patient #21"	"M"	""	""	""	"0"	""	""	"Mexican"	"Patient #2"
"00415113"	""	""	""	"1"	""	"00000"	"{PMID:Mukhopadhyay 2010:20361016}"	""	"F"	""	""	""	"0"	""	""	""	"1_II-1"
"00415114"	""	""	""	"1"	""	"00000"	"{PMID:Mukhopadhyay 2010:20361016}"	""	"F"	""	""	""	"0"	""	""	""	"1_II-2"
"00415115"	""	""	""	"1"	""	"00000"	"{PMID:Mukhopadhyay 2010:20361016}"	""	"F"	""	""	""	"0"	""	""	""	"1_II-5"
"00415116"	""	""	""	"1"	""	"00000"	"{PMID:Mukhopadhyay 2010:20361016}"	""	"F"	""	""	""	"0"	""	""	""	"2_III-2"
"00415117"	""	""	""	"1"	""	"00000"	"{PMID:Mukhopadhyay 2010:20361016}"	""	"F"	""	""	""	"0"	""	""	""	"2_III-3"
"00415118"	""	""	""	"1"	""	"00000"	"{PMID:Mukhopadhyay 2010:20361016}"	""	"M"	""	""	""	"0"	""	""	""	"3_II-1"
"00415119"	""	""	""	"1"	""	"00000"	"{PMID:Mukhopadhyay 2010:20361016}"	""	"F"	""	""	""	"0"	""	""	""	"4_III-1"
"00415120"	""	""	""	"1"	""	"00000"	"{PMID:Aldahmesh 2011:21670352}"	""	"M"	"no"	"South Africa"	""	"0"	""	""	"Indian"	"II:2"
"00415121"	""	""	""	"1"	""	"00000"	"{PMID:Aldahmesh 2011:21670352}"	""	"M"	"no"	"South Africa"	""	"0"	""	""	"Indian"	"II:4"
"00415122"	""	""	""	"1"	""	"00000"	"{PMID:Dinculescu 2012:22142163}"	""	"F"	"no"	""	""	"0"	""	""	"German/English/ French"	"?"
"00415123"	""	""	""	"1"	""	"00000"	"{PMID:Matsushita 2012:22565643}"	""	"F"	""	"Japan"	""	"0"	""	""	"Japanese"	"?"
"00415124"	""	""	""	"1"	""	"00000"	"{PMID:Neri 2012:23112574}"	""	"F"	""	""	""	"0"	""	""	"Mexican"	"?"
"00415135"	""	""	""	"1"	""	"00000"	"{PMID:Nowilaty 2013:23127749}"	"Family 1"	"M"	""	""	""	"0"	""	""	""	"F1-P1"
"00415155"	""	""	""	"1"	""	"00000"	"{PMID:Nowilaty 2013:23127749}"	"Family 13"	"M"	""	""	""	"0"	""	""	""	"F13-P25"
"00415169"	""	""	""	"1"	""	"00000"	"{PMID:Ritter 2013:23143909}"	"Turkish family, proband\'s son"	"M"	""	"Austria"	""	"0"	""	""	"Turkish"	"Patient No 2"
"00415170"	""	""	""	"1"	""	"00000"	"{PMID:Ritter 2013:23143909}"	"Turkish family, proband"	"F"	""	"Austria"	""	"0"	""	""	"Turkish"	"Patient No 1"
"00415172"	""	""	""	"1"	""	"00000"	"{PMID:Wasmann 2014:23742260}"	"sister of case 2"	"F"	""	""	""	"0"	""	""	""	"Case 1"
"00415173"	""	""	""	"1"	""	"00000"	"{PMID:Wasmann 2014:23742260}"	"sister of case 1"	"F"	""	""	""	"0"	""	""	""	"Case 2"
"00415176"	""	""	""	"1"	""	"00000"	"{PMID:Zacharias 2015:25383852}"	""	"F"	""	""	""	"0"	""	"topical dorsolamide: 2% 4 times a day as an attempt to reduce the cystoid macular edema for two months"	""	"?"
"00415177"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2016:26583794}"	""	"F"	""	"China"	""	"0"	""	""	"Chinese"	"QT1372II:1"
"00415178"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2016:26583794}"	""	"M"	""	"China"	""	"0"	""	""	"Chinese"	"QT929II:1"
"00415179"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2016:26583794}"	""	"F"	""	"China"	""	"0"	""	""	"Chinese"	"QT929II:2"
"00415180"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2016:26583794}"	""	"M"	""	"China"	""	"0"	""	""	"Chinese"	"QT351II:1"
"00415181"	""	""	""	"1"	""	"00000"	"{PMID:Mameesh 2017:28511025}"	"sibling 1: co-occurrence of two rare recessive conditions, the membrane frizzled-related protein (MFRP)-related ocular phenotype and glycogen storage disease type 1b (GSD-1b), in three siblings"	"M"	""	"Oman"	""	"0"	""	""	"Omani"	"patient 1"
"00415182"	""	""	""	"1"	""	"00000"	"{PMID:Mameesh 2017:28511025}"	"sibling 2: co-occurrence of two rare recessive conditions, the membrane frizzled-related protein (MFRP)-related ocular phenotype and glycogen storage disease type 1b (GSD-1b), in three siblings"	"F"	""	"Oman"	""	"0"	""	""	"Omani"	"patient 2"
"00415183"	""	""	""	"1"	""	"00000"	"{PMID:Mameesh 2017:28511025}"	"sibling 3: co-occurrence of two rare recessive conditions, the membrane frizzled-related protein (MFRP)-related ocular phenotype and glycogen storage disease type 1b (GSD-1b), in three siblings"	"F"	""	"Oman"	""	"0"	""	""	"Omani"	"patient 3"
"00415193"	""	""	""	"1"	""	"00000"	"{PMID:Matias-Perez 2018:30181649}"	"MFRP family, proband"	"M"	""	""	""	"0"	""	""	"Mexican"	"4"
"00415194"	""	""	""	"1"	""	"00000"	"{PMID:Matias-Perez 2018:30181649}"	"MFRP family, proband\'s brother"	"M"	""	""	""	"0"	""	""	"Mexican"	"4\'s brother"
"00415200"	""	""	""	"1"	""	"00000"	"{PMID:Morillo Sanchez 2019:31264930}"	"Spanish family, sibling 1"	"F"	"yes"	"Spain"	""	"0"	""	""	"Spanish"	"III-1"
"00415201"	""	""	""	"1"	""	"00000"	"{PMID:Morillo Sanchez 2019:31264930}"	"Spanish family, sibling 2"	"F"	"yes"	"Spain"	""	"0"	""	""	"Spanish"	"III- 2"
"00415202"	""	""	""	"1"	""	"00000"	"{PMID:Morillo Sanchez 2019:31264930}"	"Spanish family, sibling 3"	"M"	"yes"	"Spain"	""	"0"	""	""	"Spanish"	"III- 3"
"00415208"	""	""	""	"1"	""	"00000"	"{PMID:Guo 2019:31266062}"	"Trio number 5"	""	""	"China"	""	"0"	""	""	"Chinese"	"5"
"00415212"	""	""	""	"1"	""	"00000"	"{PMID:Guo 2019:31266062}"	"Trio number 9"	""	""	"China"	""	"0"	""	""	"Chinese"	"9"
"00415214"	""	""	""	"1"	""	"00000"	"{PMID:Guo 2019:31266062}"	"Trio number 11"	""	""	"China"	""	"0"	""	""	"Chinese"	"11"
"00420921"	""	""	""	"1"	""	"00000"	"{PMID:Papastavrou 2020:33055555}"	"cases description\'s might be mixed, as they are mixed in the desciptions under the figures"	""	""	""	""	"0"	""	""	""	"Case 1"
"00420922"	""	""	""	"1"	""	"00000"	"{PMID:Papastavrou 2020:33055555}"	"cases description\'s might be mixed, as they are mixed in the desciptions under the figures"	""	""	""	""	"0"	""	""	""	"Case 2"
"00420923"	""	""	""	"1"	""	"00000"	"{PMID:Papastavrou 2020:33055555}"	"cases description\'s might be mixed, as they are mixed in the desciptions under the figures"	""	""	""	""	"0"	""	""	""	"Case 3"
"00420925"	""	""	""	"1"	""	"00000"	"{PMID:De Zaeytijd 2021:33949280}"	""	"F"	""	""	""	"0"	""	""	""	"V 15"
"00420926"	""	""	""	"1"	""	"00000"	"{PMID:De Zaeytijd 2021:33949280}"	""	"M"	""	""	""	"0"	""	""	""	"V 17"
"00420927"	""	""	""	"1"	""	"00000"	"{PMID:De Zaeytijd 2021:33949280}"	""	"M"	""	""	""	"0"	""	""	""	"V 20"
"00420928"	""	""	""	"1"	""	"00000"	"{PMID:De Zaeytijd 2021:33949280}"	""	"M"	""	""	""	"0"	""	""	""	"V 22"
"00420929"	""	""	""	"1"	""	"00000"	"{PMID:De Zaeytijd 2021:33949280}"	""	"M"	""	""	""	"0"	""	""	""	"V 27"
"00420930"	""	""	""	"1"	""	"00000"	"{PMID:De Zaeytijd 2021:33949280}"	""	"M"	""	""	""	"0"	""	""	""	"V 30"
"00420931"	""	""	""	"1"	""	"00000"	"{PMID:De Zaeytijd 2021:33949280}"	""	"F"	""	""	""	"0"	""	""	""	"V 31"
"00420932"	""	""	""	"1"	""	"00000"	"{PMID:De Zaeytijd 2021:33949280}"	""	"F"	""	""	""	"0"	""	""	""	"V 34"
"00420933"	""	""	""	"1"	""	"00000"	"{PMID:De Zaeytijd 2021:33949280}"	""	"M"	""	""	""	"0"	""	""	""	"V 35"
"00420934"	""	""	""	"1"	""	"00000"	"{PMID:De Zaeytijd 2021:33949280}"	""	"F"	""	""	""	"0"	""	""	""	"V 4"
"00420935"	""	""	""	"1"	""	"00000"	"{PMID:De Zaeytijd 2021:33949280}"	""	"F"	""	""	""	"0"	""	""	""	"V 5"
"00420936"	""	""	""	"1"	""	"00000"	"{PMID:De Zaeytijd 2021:33949280}"	""	"M"	""	""	""	"0"	""	""	""	"VI 12"
"00420937"	""	""	""	"1"	""	"00000"	"{PMID:De Zaeytijd 2021:33949280}"	""	"M"	""	""	""	"0"	""	""	""	"VI 13"
"00420938"	""	""	""	"1"	""	"00000"	"{PMID:De Zaeytijd 2021:33949280}"	""	"M"	""	""	""	"0"	""	""	""	"VI 16"
"00420939"	""	""	""	"1"	""	"00000"	"{PMID:De Zaeytijd 2021:33949280}"	""	"M"	""	""	""	"0"	""	""	""	"VI 21"
"00420940"	""	""	""	"1"	""	"00000"	"{PMID:De Zaeytijd 2021:33949280}"	""	"F"	""	""	""	"0"	""	""	""	"VI 22"
"00420941"	""	""	""	"1"	""	"00000"	"{PMID:De Zaeytijd 2021:33949280}"	""	"M"	""	""	""	"0"	""	""	""	"VI 27"
"00420942"	""	""	""	"1"	""	"00000"	"{PMID:De Zaeytijd 2021:33949280}"	""	"M"	""	""	""	"0"	""	""	""	"VI 30"
"00420943"	""	""	""	"1"	""	"00000"	"{PMID:De Zaeytijd 2021:33949280}"	""	"M"	""	""	""	"0"	""	""	""	"VI 31"
"00420944"	""	""	""	"1"	""	"00000"	"{PMID:De Zaeytijd 2021:33949280}"	""	"M"	""	""	""	"0"	""	""	""	"VI 4"
"00420945"	""	""	""	"1"	""	"00000"	"{PMID:De Zaeytijd 2021:33949280}"	""	"M"	""	""	""	"0"	""	""	""	"VII 6"
"00420946"	""	""	""	"1"	""	"00000"	"{PMID:De Zaeytijd 2021:33949280}"	""	"M"	""	""	""	"0"	""	""	""	"VII 7"
"00420947"	""	""	""	"1"	""	"00000"	"{PMID:De Zaeytijd 2021:33949280}"	""	"F"	""	""	""	"0"	""	""	""	"VII 9"
"00420949"	""	""	""	"1"	""	"00000"	"{PMID:Kellner 2021:33669876}"	"family BD 35, individual III:2"	"M"	""	""	""	"0"	""	""	""	"BD 35_III:2"
"00420950"	""	""	""	"1"	""	"00000"	"{PMID:Kellner 2021:33669876}"	"family BD 35, individual IV:1"	"M"	""	""	""	"0"	""	""	""	"BD 35_IV:1"
"00420951"	""	""	""	"1"	""	"00000"	"{PMID:Kellner 2021:33669876}"	"family BD 35, individual IV:2"	"M"	""	""	""	"0"	""	""	""	"BD 35_IV:2"
"00420952"	""	""	""	"1"	""	"00000"	"{PMID:Kellner 2021:33669876}"	"family ADRP 386, individual IV:1"	"F"	""	""	""	"0"	""	""	""	"ADRP 386_IV:1"
"00420953"	""	""	""	"1"	""	"00000"	"{PMID:Kellner 2021:33669876}"	"family ADRP 386, individual IV:2"	"M"	""	""	""	"0"	""	""	""	"ADRP 386_IV:2"
"00420954"	""	""	""	"1"	""	"00000"	"{PMID:Kellner 2021:33669876}"	"family ADRP 386, individual IV:3"	"M"	""	""	""	"0"	""	""	""	"ADRP 386_IV:3"
"00426653"	""	""	""	"1"	""	"00000"	"{PMID:Borooah 2018:30451557}"	""	"F"	"no"	"Greece"	""	"0"	""	""	""	"II:3"
"00426654"	""	""	""	"1"	""	"00000"	"{PMID:Borooah 2018:30451557}"	""	"M"	"no"	"Greece"	""	"0"	""	""	""	"II:4"
"00426655"	""	""	""	"1"	""	"00000"	"{PMID:Borooah 2018:30451557}"	""	"F"	"no"	"Greece"	""	"0"	""	""	""	"II:7"
"00446933"	""	""	""	"4"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, >3 affected"	"F"	""	"Germany"	""	"0"	""	""	""	"ADRP-386-1"
"00446934"	""	""	"00446933"	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"relative"	"M"	""	"Germany"	""	"0"	""	""	""	"ADRP-386-2"
"00446957"	""	""	""	"4"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, >3 affected"	"M"	""	"Germany"	""	"0"	""	""	""	"ADRP-513"
"00447282"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"SRP-1153"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 209
"{{individualid}}"	"{{diseaseid}}"
"00290267"	"00198"
"00324526"	"04213"
"00328050"	"04214"
"00328078"	"04214"
"00332045"	"04214"
"00334574"	"04214"
"00335959"	"04214"
"00359208"	"04214"
"00372065"	"04214"
"00372519"	"04214"
"00377489"	"04214"
"00377490"	"04214"
"00377491"	"04214"
"00377492"	"04214"
"00384329"	"04214"
"00386160"	"04214"
"00386161"	"04214"
"00386162"	"04214"
"00386163"	"04214"
"00386247"	"04214"
"00390177"	"04214"
"00390306"	"04214"
"00414619"	"04214"
"00414620"	"04214"
"00414621"	"04214"
"00414622"	"04214"
"00414623"	"04214"
"00414624"	"04214"
"00414625"	"04214"
"00414626"	"04214"
"00414627"	"04214"
"00414628"	"04214"
"00414629"	"04214"
"00414630"	"04214"
"00414631"	"04214"
"00414632"	"04214"
"00414633"	"04214"
"00414634"	"04214"
"00414635"	"04214"
"00414636"	"04214"
"00414637"	"04214"
"00414638"	"04214"
"00414639"	"04214"
"00414640"	"04214"
"00414641"	"04214"
"00414642"	"04214"
"00414671"	"04214"
"00414672"	"04214"
"00414673"	"04214"
"00414674"	"04214"
"00414675"	"04214"
"00414676"	"04214"
"00414677"	"04214"
"00414678"	"04214"
"00414679"	"04214"
"00414680"	"04214"
"00414681"	"04214"
"00414682"	"04214"
"00414683"	"04214"
"00414684"	"04214"
"00414685"	"04214"
"00414686"	"04214"
"00414687"	"04214"
"00414688"	"04214"
"00414689"	"04214"
"00414690"	"04214"
"00414691"	"04214"
"00414692"	"04214"
"00414693"	"04214"
"00414694"	"04214"
"00414695"	"04214"
"00414696"	"04214"
"00414697"	"04214"
"00414698"	"04214"
"00414707"	"04214"
"00414708"	"04214"
"00414709"	"04214"
"00414710"	"04214"
"00414711"	"04214"
"00414712"	"04214"
"00414713"	"04214"
"00414714"	"04214"
"00414715"	"04214"
"00414716"	"04214"
"00414717"	"04214"
"00414718"	"04214"
"00414719"	"04214"
"00414720"	"04214"
"00414721"	"04214"
"00414722"	"04214"
"00414723"	"04214"
"00414724"	"04214"
"00414725"	"04214"
"00414726"	"04214"
"00414727"	"04214"
"00414728"	"04214"
"00414729"	"04214"
"00414730"	"04214"
"00414731"	"04214"
"00414732"	"04214"
"00414733"	"04214"
"00414734"	"04214"
"00415047"	"04214"
"00415048"	"04214"
"00415049"	"04214"
"00415050"	"04214"
"00415051"	"04214"
"00415052"	"04214"
"00415053"	"04214"
"00415054"	"04214"
"00415056"	"04214"
"00415057"	"04214"
"00415058"	"04214"
"00415059"	"04214"
"00415078"	"04214"
"00415079"	"04214"
"00415080"	"04214"
"00415088"	"04214"
"00415089"	"04214"
"00415090"	"04214"
"00415091"	"04214"
"00415092"	"04214"
"00415093"	"04214"
"00415098"	"04214"
"00415099"	"04214"
"00415100"	"04214"
"00415101"	"04214"
"00415102"	"04214"
"00415103"	"04214"
"00415104"	"04214"
"00415105"	"04214"
"00415106"	"04214"
"00415107"	"04214"
"00415108"	"04214"
"00415111"	"04214"
"00415112"	"04214"
"00415113"	"04214"
"00415114"	"04214"
"00415115"	"04214"
"00415116"	"04214"
"00415117"	"04214"
"00415118"	"04214"
"00415119"	"04214"
"00415120"	"04214"
"00415121"	"04214"
"00415122"	"04214"
"00415123"	"04214"
"00415124"	"04214"
"00415135"	"04214"
"00415155"	"04214"
"00415169"	"04214"
"00415170"	"04214"
"00415172"	"04214"
"00415173"	"04214"
"00415176"	"04214"
"00415177"	"04214"
"00415178"	"04214"
"00415179"	"04214"
"00415180"	"04214"
"00415181"	"04214"
"00415182"	"04214"
"00415183"	"04214"
"00415193"	"04214"
"00415194"	"04214"
"00415200"	"04214"
"00415201"	"04214"
"00415202"	"04214"
"00415208"	"04214"
"00415212"	"04214"
"00415214"	"04214"
"00420921"	"04214"
"00420922"	"04214"
"00420923"	"04214"
"00420925"	"04214"
"00420926"	"04214"
"00420927"	"04214"
"00420928"	"04214"
"00420929"	"04214"
"00420930"	"04214"
"00420931"	"04214"
"00420932"	"04214"
"00420933"	"04214"
"00420934"	"04214"
"00420935"	"04214"
"00420936"	"04214"
"00420937"	"04214"
"00420938"	"04214"
"00420939"	"04214"
"00420940"	"04214"
"00420941"	"04214"
"00420942"	"04214"
"00420943"	"04214"
"00420944"	"04214"
"00420945"	"04214"
"00420946"	"04214"
"00420947"	"04214"
"00420949"	"04214"
"00420950"	"04214"
"00420951"	"04214"
"00420952"	"04214"
"00420953"	"04214"
"00420954"	"04214"
"00426653"	"04214"
"00426654"	"04214"
"00426655"	"04214"
"00446933"	"00198"
"00446934"	"00198"
"00446957"	"00198"
"00447282"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 02559, 04213, 04214
## Count = 208
"{{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}}"
"0000243071"	"04213"	"00324526"	"03960"	"Familial, autosomal recessive"	""	"see paper; ..., decreased central vision (HP:0007663), extreme photophobia (HP:0000613), progressive visual loss in both eyes (HP:0000529), dyschromatopsia (HP:0007641), absent rod-and cone-mediated responses on ERG (HP:0007688)"	"06y"	"20y"	"photophobia, reduiced visual acuity"	""	""	""	""	""	""	"cone dystrophy"	""
"0000246277"	"04214"	"00328050"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000246305"	"04214"	"00328078"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000250236"	"04214"	"00332045"	"00000"	"Familial, autosomal dominant"	"71y"	"metamorphopsia, reduced visual acuity"	"65y"	""	"metamorphopsia, reduced visual acuity"	""	""	""	""	""	""	"macular dystrophy or cone-rod dystrophy"	""
"0000252614"	"04214"	"00334574"	"00000"	"Unknown"	"47y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000253874"	"04214"	"00335959"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000254505"	"04214"	"00359208"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa or rod-cone dystrophy"	""
"0000267394"	"04214"	"00372065"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267834"	"04214"	"00372519"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000272639"	"04214"	"00377489"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"late-onset retinal degeneration"	""
"0000272640"	"04214"	"00377490"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"late-onset retinal degeneration"	""
"0000272641"	"04214"	"00377491"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"late-onset retinal degeneration"	""
"0000272642"	"04214"	"00377492"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"late-onset retinal degeneration"	""
"0000278114"	"04214"	"00384329"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"high myopia"	""
"0000279963"	"04214"	"00386160"	"00000"	"Familial, autosomal dominant"	"67y"	""	""	"56y"	""	""	""	""	""	""	"late onset��retinal deg"	""	""
"0000279964"	"04214"	"00386161"	"00000"	"Familial, autosomal dominant"	"63y"	""	""	"60y"	""	""	""	""	""	""	"late onset��retinal deg"	""	""
"0000279965"	"04214"	"00386162"	"00000"	"Familial, autosomal dominant"	""	""	""	"55y"	""	""	""	""	""	""	"late onset��retinal deg"	""	""
"0000279966"	"04214"	"00386163"	"00000"	"Familial, autosomal dominant"	"39y"	""	""	"39y"	""	""	""	""	""	""	"late onset��retinal deg"	""	""
"0000280050"	"04214"	"00386247"	"00000"	"Familial, autosomal recessive"	"25y"	""	""	"24y"	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000283715"	"04214"	"00390177"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000283844"	"04214"	"00390306"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000306415"	"04214"	"00414619"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	"stronger tendency to form higher order multimers; readily became insoluble in vitro, suggesting that it is prone to aggregation"	""	""	""	""	"late-onset retinal degeneration"	""	""
"0000306416"	"04214"	"00414620"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	"stronger tendency to form higher order multimers; readily became insoluble in vitro, suggesting that it is prone to aggregation"	""	""	""	""	"late-onset retinal degeneration"	""	""
"0000306417"	"04214"	"00414621"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	"stronger tendency to form higher order multimers; readily became insoluble in vitro, suggesting that it is prone to aggregation"	""	""	""	""	"late-onset retinal degeneration"	""	""
"0000306418"	"04214"	"00414622"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	"stronger tendency to form higher order multimers; readily became insoluble in vitro, suggesting that it is prone to aggregation"	""	""	""	""	"late-onset retinal degeneration"	""	""
"0000306419"	"04214"	"00414623"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	"stronger tendency to form higher order multimers; readily became insoluble in vitro, suggesting that it is prone to aggregation"	""	""	""	""	"late-onset retinal degeneration"	""	""
"0000306420"	"04214"	"00414624"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	"stronger tendency to form higher order multimers; readily became insoluble in vitro, suggesting that it is prone to aggregation"	""	""	""	""	"late-onset retinal degeneration"	""	""
"0000306421"	"04214"	"00414625"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	"stronger tendency to form higher order multimers; readily became insoluble in vitro, suggesting that it is prone to aggregation"	""	""	""	""	"late-onset retinal degeneration"	""	""
"0000306422"	"04214"	"00414626"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	"stronger tendency to form higher order multimers; readily became insoluble in vitro, suggesting that it is prone to aggregation"	""	""	""	""	"late-onset retinal degeneration"	""	""
"0000306423"	"04214"	"00414627"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	"stronger tendency to form higher order multimers; readily became insoluble in vitro, suggesting that it is prone to aggregation"	""	""	""	""	"late-onset retinal degeneration"	""	""
"0000306424"	"04214"	"00414628"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	"stronger tendency to form higher order multimers; readily became insoluble in vitro, suggesting that it is prone to aggregation"	""	""	""	""	"late-onset retinal degeneration"	""	""
"0000306425"	"04214"	"00414629"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	"stronger tendency to form higher order multimers; readily became insoluble in vitro, suggesting that it is prone to aggregation"	""	""	""	""	"late-onset retinal degeneration"	""	""
"0000306426"	"04214"	"00414630"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	"stronger tendency to form higher order multimers; readily became insoluble in vitro, suggesting that it is prone to aggregation"	""	""	""	""	"late-onset retinal degeneration"	""	""
"0000306427"	"04214"	"00414631"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	"stronger tendency to form higher order multimers; readily became insoluble in vitro, suggesting that it is prone to aggregation"	""	""	""	""	"late-onset retinal degeneration"	""	""
"0000306428"	"04214"	"00414632"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	"stronger tendency to form higher order multimers; readily became insoluble in vitro, suggesting that it is prone to aggregation"	""	""	""	""	"late-onset retinal degeneration"	""	""
"0000306429"	"04214"	"00414633"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	"stronger tendency to form higher order multimers; readily became insoluble in vitro, suggesting that it is prone to aggregation"	""	""	""	""	"late-onset retinal degeneration"	""	""
"0000306430"	"04214"	"00414634"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	"stronger tendency to form higher order multimers; readily became insoluble in vitro, suggesting that it is prone to aggregation"	""	""	""	""	"late-onset retinal degeneration"	""	""
"0000306431"	"04214"	"00414635"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	"stronger tendency to form higher order multimers; readily became insoluble in vitro, suggesting that it is prone to aggregation"	""	""	""	""	"late-onset retinal degeneration"	""	""
"0000306432"	"04214"	"00414636"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	"stronger tendency to form higher order multimers; readily became insoluble in vitro, suggesting that it is prone to aggregation"	""	""	""	""	"late-onset retinal degeneration"	""	""
"0000306433"	"04214"	"00414637"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	"stronger tendency to form higher order multimers; readily became insoluble in vitro, suggesting that it is prone to aggregation"	""	""	""	""	"late-onset retinal degeneration"	""	""
"0000306434"	"04214"	"00414638"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	"stronger tendency to form higher order multimers; readily became insoluble in vitro, suggesting that it is prone to aggregation"	""	""	""	""	"late-onset retinal degeneration"	""	""
"0000306435"	"04214"	"00414639"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	"stronger tendency to form higher order multimers; readily became insoluble in vitro, suggesting that it is prone to aggregation"	""	""	""	""	"late-onset retinal degeneration"	""	""
"0000306436"	"04214"	"00414640"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	"stronger tendency to form higher order multimers; readily became insoluble in vitro, suggesting that it is prone to aggregation"	""	""	""	""	"late-onset retinal degeneration"	""	""
"0000306437"	"04214"	"00414641"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	"stronger tendency to form higher order multimers; readily became insoluble in vitro, suggesting that it is prone to aggregation"	""	""	""	""	"late-onset retinal degeneration"	""	""
"0000306438"	"04214"	"00414642"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	"stronger tendency to form higher order multimers; readily became insoluble in vitro, suggesting that it is prone to aggregation"	""	""	""	""	"late-onset retinal degeneration"	""	""
"0000306467"	"04214"	"00414671"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"late-onset macular degeneration with long anterior zonules"	""	""
"0000306468"	"04214"	"00414672"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"late-onset macular degeneration with long anterior zonules"	""	""
"0000306469"	"04214"	"00414673"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"late-onset macular degeneration with long anterior zonules"	""	""
"0000306470"	"04214"	"00414674"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"late-onset macular degeneration with long anterior zonules"	""	""
"0000306471"	"04214"	"00414675"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"late-onset macular degeneration with long anterior zonules"	""	""
"0000306472"	"04214"	"00414676"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"late-onset macular degeneration with long anterior zonules"	""	""
"0000306473"	"04214"	"00414677"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000306474"	"04214"	"00414678"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000306475"	"04214"	"00414679"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000306476"	"04214"	"00414680"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000306477"	"04214"	"00414681"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"long anterior zonules"	""	""
"0000306478"	"04214"	"00414682"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"long anterior zonules"	""	""
"0000306479"	"04214"	"00414683"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"late-onset macular degeneration with long anterior zonules"	""	""
"0000306480"	"04214"	"00414684"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"late-onset macular degeneration with long anterior zonules"	""	""
"0000306481"	"04214"	"00414685"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"long anterior zonules"	""	""
"0000306482"	"04214"	"00414686"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"late-onset macular degeneration with long anterior zonules"	""	""
"0000306483"	"04214"	"00414687"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"long anterior zonules"	""	""
"0000306484"	"04214"	"00414688"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"long anterior zonules"	""	""
"0000306485"	"04214"	"00414689"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"long anterior zonules"	""	""
"0000306486"	"04214"	"00414690"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"long anterior zonules"	""	""
"0000306487"	"04214"	"00414691"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"unknown"	""	""
"0000306488"	"04214"	"00414692"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"unknown"	""	""
"0000306489"	"04214"	"00414693"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"long anterior zonules"	""	""
"0000306490"	"04214"	"00414694"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"long anterior zonules"	""	""
"0000306491"	"04214"	"00414695"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"long anterior zonules"	""	""
"0000306492"	"04214"	"00414696"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"long anterior zonules"	""	""
"0000306493"	"04214"	"00414697"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"long anterior zonules"	""	""
"0000306494"	"04214"	"00414698"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"long anterior zonules"	""	""
"0000306502"	"04214"	"00414707"	"00000"	"Familial, autosomal dominant"	"60y"	"late-onset macular degeneration, long anterior zonules, elevated intraocular pressure, nyctalopia, best corrected visual acuity: 20/20 in each eye; iris transillumination defects in a peripupillary distribution and anteriorly placed pigmented zonules: fundus: normal; 10-y follow-up: progressive nyctalopia, visual acuity right, left eye decreasing to 20/40, 20/60 OS; choroidal neovascular membrane developed in the right eye, treated with laser; one year later - visual acuity 20/200 both eyes, pigmentary changes present in the fundus; family history: patient’s father and brother experienced similar visual problems at a comparable age, brother also showed iris transillumination, prominent anterior zonule insertion and pigmentary changes in the retina, patient’s nephew in his fourth decade and asymptomatic had midperipheral drusen like lesions in both fundi as well as anterior segment changes akin to those seen in his relat"	"<60y"	""	"nyctalopia"	"stronger tendency to form higher order multimers; readily became insoluble in vitro, suggesting that it is prone to aggregation"	""	""	""	""	"late-onset macular degeneration with long anterior zonules"	""	""
"0000306503"	"04214"	"00414708"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000306504"	"04214"	"00414709"	"00000"	"Familial, autosomal dominant"	"63y"	"55y: best corrected visual acuity right, left eye: 20/20, 20/20, color vision: normal, contrast sensitivity right:left eye: 1.65:1.65; fundus: normal disks and vessels, drusenoid deposits, inside vascular arcades; , Goldmann visual field: mild enlargement of blind spot, otherwise normal. electroretinogram: dark adapted 0.01 Y b-wave, dark adapted 2.29 Y b-wave (b/a, 1.52), light adapted electroretinograms: normal; 58y: best corrected visual acuity right, left eye: 20/20:20/20, color vision: red-green axis mildly decreased, blue-yellow axis moderately decreased, contrast sensitivity right:left eye: 1.35:1.35; fundus: increase in drusenoid deposits, early retinal pigment epithelium changes in macula and periphery, Goldmann visual field: stable. electroretinogram: dark adapted 0.01 non-recordable, dark adapted 2.29 moderately decreased b and mildly decreased a-waves(b/a, 1.02), light adapted 2.29 Hz: mildly decreased a and b-wave, light adapted 30 Hz: mildly decreased b-wave with delay; 60y: best corrected visual acuity right, left eye: 20/20, 20/20, color vision: red-green axis mildly decreased, blue-yellow axis moderately decreased, contrast sensitivity right:left eye: 1.35:1.35, fundus: retinal pigment epithelium changes progressed in macula and periphery, Goldmann visual field: ‘C’-shaped defect to I4e target in 10deg-25deg nasal field crossing the midline; islands of nasal field defects to III4e target; 63y: best corrected visual acuity right, left eye: 20/20, 20/20 red-green axis mildly decreased, blue-yellow axis severely decreased, contrast sensitivity right:left eye: 1.20:1.20; fundus: panretinal drusenoid deposits, scalloped areas of chorioretinal atrophy temporal to macula, choroidal neovascular membrane in the inferior retina in both eyes , Goldmann visual field: annular scotoma to I4e target in 2deg-45deg zone; islands of field defects in 10deg-25deg zone to III4e target (more in nasal field), electroretinogram: dark adapted 0.01: non-recordable, dark adapted 2.29: severely decreased b and mildly desed a-wave (b/a, 0.70), light adapted electroretinograms: stable except for further delay in 30-Hz flicker; 63y: visual acuity 20/20, red-green axis mildly decreased, blue-yellow axis severely decreased, contrast sensitivity right:left eye: 1.20:1.20; fundus: regression of choroidal neovascular membrane noted; new choroidal neovascular membrane in temporal periphery right eye, Goldmann visual field: stable"	""	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000306505"	"04214"	"00414710"	"00000"	"Familial, autosomal dominant"	"68y"	"66y: best corrected visual acuity right, left eye: 20/20, 20/20 red-green axis severely decreased, blue-yellow axis moderately decreased, contrast sensitivity right:left eye: 1.35:1.35, fundus: drusenoid deposits at macula, scalloped chorioretinal atrophy in temporal midperiphery and far periphery, Goldmann visual field: normal to III 4e; scotomas in nasal field to I4e target, electroretinogram: dark adapted 0.01: moderately decreased b-wave, dark adapted 2.29: moderately decreased a and b-waves (b/a, 2.49), light adapted 2.29: b-wave delay, 30 Hz: b-wave delay; 68y: best corrected visual acuity right, left eye: 20/20, 20/25, contrast sensitivity right:left eye: 1.05:1.05; additional choroidal neovascular membrane with subretinal bleed in both eyes, Goldmann visual field: islands of scotoma in nasal field to III4e; constriction of fields to I4e predominantly involving nasal field"	""	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000306506"	"04214"	"00414711"	"00000"	"Familial, autosomal dominant"	"37y"	"37y: best corrected visual acuity 20/20; color: normal, contrast sensitivity: 1.65:1.65, fundus: normal evaluation, Goldmann visual field: not performed, electroretinogram: nNormal dark adapted and light adapted electroretinograms"	""	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000306507"	"04214"	"00414712"	"00000"	"Familial, autosomal dominant"	""	"peripupillary iris atrophy and abnormally long anterior zonular insertions, scalloped areas of retinal pigment epithelium atrophy in the mid-periphery and widespread atrophy in the posterior pole; full-field electroretinograms: consistent with generalized dysfunction at the level of the photoreceptor with a rod-cone pattern of dysfunction in all tested cases, pattern electroretinogram: severe macular involvement"	">50y"	""	"nyctalopia"	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000306508"	"04214"	"00414713"	"00000"	"Familial, autosomal dominant"	""	"peripupillary iris atrophy and abnormally long anterior zonular insertions, scalloped areas of retinal pigment epithelium atrophy in the mid-periphery and widespread atrophy in the posterior pole; full-field electroretinograms: consistent with generalized dysfunction at the level of the photoreceptor with a rod-cone pattern of dysfunction in all tested cases, pattern electroretinogram: severe macular involvement"	">50y"	""	"nyctalopia"	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000306509"	"04214"	"00414714"	"00000"	"Familial, autosomal dominant"	""	"peripupillary iris atrophy and abnormally long anterior zonular insertions, scalloped areas of retinal pigment epithelium atrophy in the mid-periphery and widespread atrophy in the posterior pole; full-field electroretinograms: consistent with generalized dysfunction at the level of the photoreceptor with a rod-cone pattern of dysfunction in all tested cases, pattern electroretinogram: severe macular involvement; spectral domain optical coherence tomography revealed widespread photoreceptor loss with absence of the inner / outer segment junction and concurrent thinning of the outer nuclear layer interspersed with regions of inner / outer segment junction preservation; hyper-reflective deposits and thickening of the hyper-reflective line corresponding to the retinal pigment epithelium / Bruch’s membrane complex were evident. Interestingly, multiple triangular hyporeflective spaces with hyper-reflective borders at the level of the retinal pigment epithelium / - Bruch’s membrane complex; qualitative analysisspectral domain optical coherence tomography images: diffuse choroidal thinning, mainly affecting the inner choroid suggesting loss of the choriocapillaris"	">50y"	""	"nyctalopia"	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000306510"	"04214"	"00414715"	"00000"	"Familial, autosomal dominant"	""	"large area of macular atrophy with scalloped borders, no obvious areas of atrophy in the mid-periphery, fundus autofluorescence imaging confirmed the above findings and highlighted the atrophic areas; full-field electroretinograms: consistent with generalized dysfunction at the level of the photoreceptor with a rod-cone pattern of dysfunction in all tested cases, pattern electroretinogram: severe macular involvement - electrophysiological findings, with an atypical fundus appearance, consistent with severe bilateral macular and generalized rod system dysfunction but near normal full-field cone responses; spectral domain optical coherence tomography revealed widespread photoreceptor loss with absence of the inner / outer segment junction and concurrent thinning of the outer nuclear layer interspersed with regions of inner / outer segment junction preservation; hyper-reflective deposits and thickening of the hyper-reflective line corresponding to the retinal pigment epithelium / Bruch’s membrane complex were ident. Interestingly, multiple triangular hyporeflective spaces with hyper-reflective borders at the level of the retinal pigment epithelium / - Bruch’s membrane complex; qualitative analysis of spectral domain optical coherence tomography images: diffuse choroidal thinning, mainly affecting the inner choroid suggesting loss of the choriocapillar"	">50y"	""	"nyctalopia"	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000306511"	"04214"	"00414716"	"00000"	"Familial, autosomal dominant"	"58y"	"best corrected visual acuity right, left eye: 6/12, 6/12; disease stage:2; eyes undergoing extended dark adaptation - patched eye:left; pupil diameter, mm, day 1, right, left eye: 6.5, 6.5; day 2, right, left eye: 6, 6.5; rod system function, as measured by the dark adapted 0.01 b-wave amplitude, demonstrated a significant improvement after extended dark adaptation, with 4 of 9 patients demonstrating normalization of responses"	""	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000306512"	"04214"	"00414717"	"00000"	"Familial, autosomal dominant"	"64y"	"best corrected visual acuity right, left eye: 6/18, 6/24; disease stage:3; eyes undergoing extended dark adaptation - patched eye:left; pupil diameter, mm, day 1, right, left eye: 6, 6; day 2, right, left eye: 6, 6; rod system function, as measured by the dark adapted 0.01 b-wave amplitude, demonstrated a significant improvement after extended dark adaptation, with 4 of 9 patients demonstrating normalization of responses"	""	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000306513"	"04214"	"00414718"	"00000"	"Familial, autosomal dominant"	"65y"	"best corrected visual acuity right, left eye: 6/9, 6/18; disease stage:3; eyes undergoing extended dark adaptation - patched eye:right; pupil diameter, mm, day 1, right, left eye: 6, 6; day 2, right, left eye: 6.5, 6.5; rod system function, as measured by the dark adapted 0.01 b-wave amplitude, demonstrated a significant improvement after extended dark adaptation, with 4 of 9 patients demonstrating normalization of responses"	""	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000306514"	"04214"	"00414719"	"00000"	"Familial, autosomal dominant"	"65y"	"best corrected visual acuity right, left eye: 6/9, 6/12; disease stage:2; eyes undergoing extended dark adaptation - patched eye:left; pupil diameter, mm, day 1, right, left eye: 7, 7; day 2, right, left eye: 7, 7; rod system function, as measured by the dark adapted 0.01 b-wave amplitude, demonstrated a significant improvement after extended dark adaptation, with 4 of 9 patients demonstrating normalization of responses"	""	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000306515"	"04214"	"00414720"	"00000"	"Familial, autosomal dominant"	"67y"	"best corrected visual acuity right, left eye: counting fingers, counting fingers; disease stage:3; eyes undergoing extended dark adaptation - patched eye:left; pupil diameter, mm, day 1, right, left eye: 5.5, 6; day 2, right, left eye: 5.5, 5.5; rod system function, as measured by the dark adapted 0.01 b-wave amplitude, demonstrated a significant improvement after extended dark adaptation, with 4 of 9 patients demonstrating normalization of responses"	""	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000306516"	"04214"	"00414721"	"00000"	"Familial, autosomal dominant"	"68y"	"best corrected visual acuity right, left eye: 6/18, 6/60; disease stage:3; eyes undergoing extended dark adaptation - patched eye:left; pupil diameter, mm, day 1, right, left eye: 6.5, 6.5; day 2, right, left eye: 6.5, 6.5; rod system function, as measured by the dark adapted 0.01 b-wave amplitude, demonstrated a significant improvement after extended dark adaptation, with 4 of 9 patients demonstrating normalization of responses"	""	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000306517"	"04214"	"00414722"	"00000"	"Familial, autosomal dominant"	"69y"	"best corrected visual acuity right, left eye: counting fingers, counting fingers; disease stage:3; eyes undergoing extended dark adaptation - patched eye:left; pupil diameter, mm, day 1, right, left eye: 6.5, 6.5; day 2, right, left eye: 6.5, 6.5; rod system function, as measured by the dark adapted 0.01 b-wave amplitude, demonstrated a significant improvement after extended dark adaptation, with 4 of 9 patients demonstrating normalization of responses"	""	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000306518"	"04214"	"00414723"	"00000"	"Familial, autosomal dominant"	"72y"	"best corrected visual acuity right, left eye: 6/18, counting fingers; disease stage:3; eyes undergoing extended dark adaptation - patched eye:left; pupil diameter, mm, day 1, right, left eye: 5.5, 5.5; day 2, right, left eye: 5.5, 5; rod system function, as measured by the dark adapted 0.01 b-wave amplitude, demonstrated a significant improvement after extended dark adaptation, with 4 of 9 patients demonstrating normalization of responses"	""	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000306519"	"04214"	"00414724"	"00000"	"Familial, autosomal dominant"	"78y"	"best corrected visual acuity right, left eye: 6/18, 6/60; disease stage:3; eyes undergoing extended dark adaptation - patched eye:right; pupil diameter, mm, day 1, right, left eye: 6, 6; day 2, right, left eye: 6, 6; rod system function, as measured by the dark adapted 0.01 b-wave amplitude, demonstrated a significant improvement after extended dark adaptation, with 4 of 9 patients demonstrating normalization of responses"	""	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000306520"	"04214"	"00414725"	"00000"	"Familial, autosomal dominant"	""	"age of onset: late 50s , dark adaptation delay; fundus: drusenoid  deposits, retinal pigment epithelium atrophy"	""	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000306521"	"04214"	"00414726"	"00000"	"Familial, autosomal dominant"	""	"age of onset: early 50s , dark adaptation delay; fundus: drusenoid  deposits, retinal pigment epithelium atrophy"	""	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000306522"	"04214"	"00414727"	"00000"	"Familial, autosomal dominant"	""	"age of onset: mid-60s , dark adaptation delay; fundus: drusenoid  deposits, retinal pigment epithelium atrophy"	""	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000306523"	"04214"	"00414728"	"00000"	"Familial, autosomal dominant"	""	"age of onset: late 50s , dark adaptation delay; fundus: drusenoid  deposits, retinal pigment epithelium atrophy"	""	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000306524"	"04214"	"00414729"	"00000"	"Familial, autosomal dominant"	""	"age of onset: mid-60s , dark adaptation delay; fundus: drusenoid  deposits, no retinal pigment epithelium atrophy"	""	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000306525"	"04214"	"00414730"	"00000"	"Familial, autosomal dominant"	""	"age of onset: mid-60s , dark adaptation delay; fundus: drusenoid  deposits, no retinal pigment epithelium atrophy"	""	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000306526"	"04214"	"00414731"	"00000"	"Familial, autosomal dominant"	""	"age of onset: mid-40s , dark adaptation delay; fundus: drusenoid  deposits, retinal pigment epithelium atrophy"	""	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000306527"	"04214"	"00414732"	"00000"	"Familial, autosomal dominant"	""	"age of onset: mid-60s , dark adaptation delay; fundus: drusenoid  deposits, retinal pigment epithelium atrophy"	""	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000306528"	"04214"	"00414733"	"00000"	"Familial, autosomal dominant"	""	"age of onset: late 50s , dark adaptation delay; fundus: drusenoid  deposits, no retinal pigment epithelium atrophy"	""	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000306529"	"04214"	"00414734"	"00000"	"Familial, autosomal dominant"	""	"age of onset: mid-60s , dark adaptation delay; fundus: drusenoid deposits, retinal pigment epithelium atrophy"	""	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000306848"	"04214"	"00415047"	"00000"	"Familial, autosomal recessive"	"30y"	"nanophthalmos, angle closure glaucoma, and massive retinal detachment in the left eye; affected eyes showed prominent forward bowing of the iris and a narrow angle between iris and cornea; diameter and curvature of the cornea within normal range; retina: absence of a normal foveal pit, presence of macular folds; best corrected visual acuity right, left eye: 20/200, light perception; refraction (diopters)  right, left eye: 19, not determined; axial length (millimeters) right, left eye: 15.6, 13.9; electroretinogram: normal, dark-adaptation kinetics: moderate anomalies; rod photoreceptors adapted significantly more slowly, and once dark-adapted, they were 5 times less sensitive than normal, cone adaptation appeared identical to the control, both in rate or dark-adapted threshold."	""	""	""	""	""	""	""	""	"extreme hyperopia"	""	""
"0000306849"	"04214"	"00415048"	"00000"	"Familial, autosomal recessive"	"27y"	"affected eyes: prominent forward bowing of the iris and a narrow angle between iris and cornea; diameter and curvature of the cornea within normal range; retina: absence of a normal foveal pit, presence of macular folds, slight tortuosity of blood vessels in the left eye of patient 6; retinas appeared healthy, with the exception of patches of hypopigmentation in the lateral fundus; no evidence of the distinctive retinal pigment epithelium pigment clumping that accompanies photoreceptor degeneration: refractive error of +14.50, an unusually short axial length of 15.45 mm, and visual acuity of 20/40 with glasses; ultrasonography: forward placement of a slightly longer lens, a vitreous cavity of half normal length, and 3.3 times the normal thickness of sclera and choroid"	""	""	""	""	""	""	""	""	"extreme hyperopia"	""	""
"0000306850"	"04214"	"00415049"	"00000"	"Familial, autosomal recessive"	"21y"	"affected eyes: prominent forward bowing of the iris and a narrow angle between iris and cornea; diameter and curvature of the cornea within normal range; retina: absence of a normal foveal pit, presence of macular folds, slight tortuosity of blood vessels; retinas appeared healthy, with the exception of patches of hypopigmentation in the lateral fundus; electroretinogram: normal, dark-adaptation kinetics: moderate anomalies, cone photoreceptors adapted significantly more slowly, and once dark-adapted, they were 10 times less sensitive than normal; rods also adapted more slowly, although once dark-adapted they were as sensitive to dim light as a normal eye"	""	""	""	""	""	""	""	""	"extreme hyperopia"	""	""
"0000306851"	"04214"	"00415050"	"00000"	"Familial, autosomal recessive"	"23y"	"affected eyes: prominent forward bowing of the iris and a narrow angle between iris and cornea; diameter and curvature of the cornea within normal range; retina: absence of a normal foveal pit, presence of macular folds, slight tortuosity of blood vessels; retinas appeared healthy, with the exception of patches of hypopigmentation in the lateral fundus"	""	""	""	""	""	""	""	""	"extreme hyperopia"	""	""
"0000306852"	"04214"	"00415051"	"00000"	"Familial, autosomal recessive"	"65y"	"affected eyes: showed prominent forward bowing of the iris and a narrow angle between iris and cornea; diameter and curvature of the cornea within normal range; retina: absence of a normal foveal pit, presence of macular folds; retinas appeared healthy, with the exception of patches of hypopigmentation in the lateral fundus; heterozygote - possibility is that his nanophthalmos results from interaction of the MFRP heterozygote and functional polymorphisms in another gene or it is semidominant with partial penetrance related to gene dosage and to unknown genetic or environmental factors; or, somatic crossover or uniparental disomy of chromosome rendered 1143insC homozygous in the retinal pigment epithelium"	""	""	""	""	""	""	""	""	"extreme hyperopia"	""	""
"0000306853"	"04214"	"00415052"	"00000"	"Familial, autosomal recessive"	"9y"	"best corrected visual acuity 20/80: refractive error: +13.40 and +13.60; retinal pigment epithelium: no pigmentary anomalies"	""	""	""	""	""	""	""	""	"extreme hyperopia"	""	""
"0000306854"	"04214"	"00415053"	"00000"	"Familial, autosomal recessive"	"28y"	"sisters had average refractive errors of +22.00 and +22.25; patches of retinal pigment epithelium  hypopigmentation in the lateral retina"	""	""	""	""	""	""	""	""	"extreme hyperopia"	""	""
"0000306855"	"04214"	"00415054"	"00000"	"Familial, autosomal recessive"	"25y"	"sisters had average refractive errors of +22.00 and +22.25; patches of retinal pigment epithelium  hypopigmentation in the lateral retina"	""	""	""	""	""	""	""	""	"extreme hyperopia"	""	""
"0000306857"	"04214"	"00415056"	"00000"	"Familial, autosomal recessive"	"49y"	"best corrected visual acuity right, left eye: 20/200, 20/100; anterior segment findings: horizontal corneal diameter: 11.2mm, 11.5mm, shallow anterior chamber and nairnw camerular angles both eyes; posterior segment findings: optic disc drusen, pigment clumping, and bone-spicule pigmentation both eyes; electroretinogram: extinguished rod responses and barely registrable cone responses both eyes; optical coherence tomography: diffuse macular thickening, outer retinal layers schisis with discrete bridging elements at the fovea (foveoschisis) both eyes"	"24y"	""	"progressive impairment of night vision and bilateral progressive decrease in visual acuity"	""	""	""	""	""	"posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen syndrome"	""	""
"0000306858"	"04214"	"00415057"	"00000"	"Familial, autosomal recessive"	"45y"	"best corrected visual acuity: 20/200 both eyes; anterior segment findings: horizontal corneal diameter: 11.4mm, 11.7mm, shallow anterior chamber and open camerular angles both eyes; posterior segment findings: optic disc drusen, pigment clumping, and bone-spicule pigmentation both eyes; electroretinogram: extinguished rod responses and marked reduction and delay in cone responses both eyes; optical coherence tomography: diffuse macular thickening, outer retinal layers schisis with discrete bridging elements at the fovea (foveoschisis) both eyes"	""	""	""	""	""	""	""	""	"posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen syndrome"	""	""
"0000306859"	"04214"	"00415058"	"00000"	"Familial, autosomal recessive"	"41y"	"best corrected visual acuity: 20/70 both eyes; anterior segment findings: horizontal corneal diameter: 11.7mm, 12mm, shallow anterior chamber and open camerular angles both eyes; posterior segment findings: optic disc drusen, pigment clumping, and bone-spicule pigmentation both eyes; electroretinogram: extinguished rod responses and marked reduction and delay in cone responses both eyes; optical coherence tomography: diffuse macular thickening, outer retinal layers schisis with discrete bridging elements at the fovea (foveoschisis) both eyes"	""	""	""	""	""	""	""	""	"posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen syndrome"	""	""
"0000306860"	"04214"	"00415059"	"00000"	"Familial, autosomal recessive"	"39y"	"best corrected visual acuity: 20/60 both eyes; anterior segment findings: horizontal corneal diameter: 11.6mm, 11.7mm, shallow anterior chamber and open camerular angles both eyes ; posterior segment findings: optic disc drusen, pigment clumping and bone-spicule pigmentation both eyes; electroretinogram: extinguished rod responses and moderate reduction and delay in cone responses both eyes; optical coherence tomography: diffuse macular thickening, outer retinal layers schisis with discrete bridging elements at the fovea (foveoschisis) both eyes"	""	""	""	""	""	""	""	""	"posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen syndrome"	""	""
"0000306879"	"04214"	"00415078"	"00000"	"Familial, autosomal recessive"	"40y"	"best corrected visual acuity right, left eye: 0.4, 0.3; corneal diameter (mm): 11.3 mm, 11.5 mm; axial length: 16.04, 16.08; refraction right, left eye: +16.0, +16.5; intraocular pressure (mmHg): 16, 16; posterior segment findings: optic disk drusen, retinitis pigmentosa; optical coherence tomography: foveoschisis; macular thickness (um): 250"	""	""	""	""	""	""	""	""	"nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen syndrome"	""	""
"0000306880"	"04214"	"00415079"	"00000"	"Familial, autosomal recessive"	"54y"	"best corrected visual acuity right, left eye: 0.1, 0.1; corneal diameter (mm): 10.9 mm, 10.5 mm; axial length: 14.72, 14.80; refraction right, left eye: +19, +19; intraocular pressure (mmHg): 20, 28; posterior segment findings: optic disk drusen, retinitis pigmentosa; optical coherence tomography: foveoschisis; macular thickness (um): 480 (macular edema)"	""	""	""	""	""	""	""	""	"nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen syndrome"	""	""
"0000306881"	"04214"	"00415080"	"00000"	"Familial, autosomal recessive"	"60y"	"best corrected visual acuity right, left eye: 0.05, no light perception; corneal diameter (mm): 11.2 mm, 11.1 mm; axial length: 15.31, 15.43; refraction right, left eye: +18, -; intraocular pressure (mmHg): 18, 18; posterior segment findings: optic disk drusen, retinitis pigmentosa; optical coherence tomography: foveoschisis; macular thickness (um): 650 (macular edema)"	""	""	""	""	""	""	""	""	"nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen syndrome"	""	""
"0000306889"	"04214"	"00415088"	"00000"	"Unknown"	""	"whole tested affected group: mean age: 66.2+/-9.1y (range 46-86y); male 31 (28.7%) 10 21, female 77 (71.3%); axial length (mm): 21.90+/-0.50 (range 19.98-22.50); anterior chamber depth (mm): 2.37+/-0.38 (range 1.79-3.54)"	""	""	""	""	""	""	""	""	"primary angle closure glaucoma and short axial length eyes"	""	""
"0000306890"	"04214"	"00415089"	"00000"	"Unknown"	""	"whole tested affected group: mean age: 66.2+/-9.1y (range 46-86y); male 31 (28.7%) 10 21, female 77 (71.3%); axial length (mm): 21.90+/-0.50 (range 19.98-22.50); anterior chamber depth (mm): 2.37+/-0.38 (range 1.79-3.54)"	""	""	""	""	""	""	""	""	"primary angle closure glaucoma and short axial length eyes"	""	""
"0000306891"	"04214"	"00415090"	"00000"	"Unknown"	""	"whole tested affected group: mean age: 66.2+/-9.1y (range 46-86y); male 31 (28.7%) 10 21, female 77 (71.3%); axial length (mm): 21.90+/-0.50 (range 19.98-22.50); anterior chamber depth (mm): 2.37+/-0.38 (range 1.79-3.54)"	""	""	""	""	""	""	""	""	"primary angle closure glaucoma and short axial length eyes"	""	""
"0000306892"	"04214"	"00415091"	"00000"	"Unknown"	""	"whole tested affected group: mean age: 66.2+/-9.1y (range 46-86y); male 31 (28.7%) 10 21, female 77 (71.3%); axial length (mm): 21.90+/-0.50 (range 19.98-22.50); anterior chamber depth (mm): 2.37+/-0.38 (range 1.79-3.54)"	""	""	""	""	""	""	""	""	"primary angle closure glaucoma and short axial length eyes"	""	""
"0000306893"	"04214"	"00415092"	"00000"	"Unknown"	""	"whole tested affected group: mean age: 66.2+/-9.1y (range 46-86y); male 31 (28.7%) 10 21, female 77 (71.3%); axial length (mm): 21.90+/-0.50 (range 19.98-22.50); anterior chamber depth (mm): 2.37+/-0.38 (range 1.79-3.54)"	""	""	""	""	""	""	""	""	"primary angle closure glaucoma and short axial length eyes"	""	""
"0000306894"	"04214"	"00415093"	"00000"	"Unknown"	""	"whole tested affected group: mean age: 66.2+/-9.1y (range 46-86y); male 31 (28.7%) 10 21, female 77 (71.3%); axial length (mm): 21.90+/-0.50 (range 19.98-22.50); anterior chamber depth (mm): 2.37+/-0.38 (range 1.79-3.54)"	""	""	""	""	""	""	""	""	"primary angle closure glaucoma and short axial length eyes"	""	""
"0000306899"	"04214"	"00415098"	"00000"	"Unknown"	""	"whole affected group description: physiologic high hyperopia (refraction: spherical equivalent >=+5.00 [diopters] D): average spherical refractive error: +8.41 D in the right eye (from +6.00 D to +16.5 D) and +8.76 D in the left eye (from +6.00 D to +16.5 D)"	""	""	""	""	""	""	""	""	"physiologic high hyperopia"	""	""
"0000306900"	"04214"	"00415099"	"00000"	"Unknown"	""	"whole affected group description: physiologic high hyperopia (refraction: spherical equivalent >=+5.00 [diopters] D): average spherical refractive error: +8.41 D in the right eye (from +6.00 D to +16.5 D) and +8.76 D in the left eye (from +6.00 D to +16.5 D)"	""	""	""	""	""	""	""	""	"physiologic high hyperopia"	""	""
"0000306901"	"04214"	"00415100"	"00000"	"Unknown"	""	"whole affected group description: physiologic high hyperopia (refraction: spherical equivalent >=+5.00 [diopters] D): average spherical refractive error: +8.41 D in the right eye (from +6.00 D to +16.5 D) and +8.76 D in the left eye (from +6.00 D to +16.5 D)"	""	""	""	""	""	""	""	""	"physiologic high hyperopia"	""	""
"0000306902"	"04214"	"00415101"	"00000"	"Unknown"	""	"whole affected group description: physiologic high hyperopia (refraction: spherical equivalent >=+5.00 [diopters] D): average spherical refractive error: +8.41 D in the right eye (from +6.00 D to +16.5 D) and +8.76 D in the left eye (from +6.00 D to +16.5 D)"	""	""	""	""	""	""	""	""	"physiologic high hyperopia"	""	""
"0000306903"	"04214"	"00415102"	"00000"	"Unknown"	""	"whole affected group description: physiologic high hyperopia (refraction: spherical equivalent >=+5.00 [diopters] D): average spherical refractive error: +8.41 D in the right eye (from +6.00 D to +16.5 D) and +8.76 D in the left eye (from +6.00 D to +16.5 D)"	""	""	""	""	""	""	""	""	"physiologic high hyperopia"	""	""
"0000306904"	"04214"	"00415103"	"00000"	"Unknown"	""	"whole affected group description: physiologic high hyperopia (refraction: spherical equivalent >=+5.00 [diopters] D): average spherical refractive error: +8.41 D in the right eye (from +6.00 D to +16.5 D) and +8.76 D in the left eye (from +6.00 D to +16.5 D)"	""	""	""	""	""	""	""	""	"physiologic high hyperopia"	""	""
"0000306905"	"04214"	"00415104"	"00000"	"Unknown"	""	"whole affected group description: physiologic high hyperopia (refraction: spherical equivalent >=+5.00 [diopters] D): average spherical refractive error: +8.41 D in the right eye (from +6.00 D to +16.5 D) and +8.76 D in the left eye (from +6.00 D to +16.5 D)"	""	""	""	""	""	""	""	""	"physiologic high hyperopia"	""	""
"0000306906"	"04214"	"00415105"	"00000"	"Unknown"	""	"whole affected group description: physiologic high hyperopia (refraction: spherical equivalent >=+5.00 [diopters] D): average spherical refractive error: +8.41 D in the right eye (from +6.00 D to +16.5 D) and +8.76 D in the left eye (from +6.00 D to +16.5 D)"	""	""	""	""	""	""	""	""	"physiologic high hyperopia"	""	""
"0000306907"	"04214"	"00415106"	"00000"	"Unknown"	""	"whole affected group description: physiologic high hyperopia (refraction: spherical equivalent >=+5.00 [diopters] D): average spherical refractive error: +8.41 D in the right eye (from +6.00 D to +16.5 D) and +8.76 D in the left eye (from +6.00 D to +16.5 D)"	""	""	""	""	""	""	""	""	"physiologic high hyperopia"	""	""
"0000306908"	"04214"	"00415107"	"00000"	"Unknown"	""	"whole affected group description: physiologic high hyperopia (refraction: spherical equivalent >=+5.00 [diopters] D): average spherical refractive error: +8.41 D in the right eye (from +6.00 D to +16.5 D) and +8.76 D in the left eye (from +6.00 D to +16.5 D)"	""	""	""	""	""	""	""	""	"physiologic high hyperopia"	""	""
"0000306909"	"04214"	"00415108"	"00000"	"Unknown"	""	"whole affected group description: physiologic high hyperopia (refraction: spherical equivalent >=+5.00 [diopters] D): average spherical refractive error: +8.41 D in the right eye (from +6.00 D to +16.5 D) and +8.76 D in the left eye (from +6.00 D to +16.5 D)"	""	""	""	""	""	""	""	""	"physiologic high hyperopia"	""	""
"0000306912"	"04214"	"00415111"	"00000"	"Familial, autosomal recessive"	"18y"	"best corrected visual acuity: 20/200; refractive error: +16.75; intraocular pressure 12 mmHg - both eyes; normal horizontal corneal diameters (11.5 mm), no anterior chamber angle anomalies; progressive nyctalopia and decreasing visual acuity since infancy; funduscopy: very small optic cups (<20%), cystic lesions on macular areas, diminished foveal reflex in both eyes, and retinal pigmented epithelium mottling and atrophy mainly at posterior pole and peripheral retina in both eyes; no clinical evidence of retinoschisis; fluorescein retinal angiography: showed transmission defects corresponding to the observed mottled areas of retinal pigmented epithelium atrophy; electroretinogram: abolished scotopic light response in both eyes, photopic response recordable but subnormal in both eyes; electrooculography Arden ratios right, left eye: 144%, 108% (normal values: 180%–200%); ultrasonography: eye axial length right/left eye: 14.79 / 14.65 mm, optic nerve drusen and thickened choroid in both eyes; optical coherenctomography: increased foveal thickness right/left eye: 331 um / 317 um, hyporeflective images of cystic appearance, splitting of inner retinal layers"	""	""	""	""	""	""	""	""	"nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen syndrome"	""	""
"0000306913"	"04214"	"00415112"	"00000"	"Familial, autosomal recessive"	"16y"	"best corrected visual acuity right, left eye: 20/200, 20/100; refractive error: +16.75 both eyes, intraocular pressure: 12 mmHg, normal horizontal corneal diameters (11.5 mm), no anterior chamber angle anomalies; progressive nyctalopia and decreasing visual acuity since infancy; cystic lesions on macular areas, diminished foveal reflexes, retinal pigmented epithelium mottling and atrophy mainly at posterior pole and peripheral retina in both eyes; no clinical evidence of retinoschisis; fluorescein retinal angiography: diffuse transmission defects corresponding to the observed areas of retinal pigmented epithelium  mottling and atrophy electroretinogram: a subnormal scotopic light response in right eye and an abolished response in left eye. optical coherence tomography: increased foveal thickness right/left eye: 399 um / 409 um; hyporeflective images of cystic appearance, apparent splitting of inner retinal layers; electrooculography Arden ratios right, left eye: 122%, 116%; ultrasonography: axial length right/left eye: 14.93 / 14.67 mm; optic nerve drusen and thickened choroids in both eyes"	""	""	""	""	""	""	""	""	"nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen syndrome"	""	""
"0000306914"	"04214"	"00415113"	"00000"	"Familial, autosomal recessive"	"58y"	"best corrected visual acuity: 3/60 both eyes; refractive error (spherical equivalent): +15.00 D, +16.00 D; foveal cystic spaces: absent; optic nerve head drusen: absent; cataract: bilateral cataract surgery"	"<10y"	""	"night blindness"	""	""	""	""	""	"nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen syndrome"	""	""
"0000306915"	"04214"	"00415114"	"00000"	"Familial, autosomal recessive"	"53y"	"best corrected visual acuity: 6/60 both eyes; refractive error (spherical equivalent): +19.00 D, +20.00; foveal cystic spaces: absent; optic nerve head drusen: absent; cataract: absent"	"0m"	""	"night blindness"	""	""	""	""	""	"nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen syndrome"	""	""
"0000306916"	"04214"	"00415115"	"00000"	"Familial, autosomal recessive"	"46y"	"best corrected visual acuity: 6/18 both eyes; refractive error (spherical equivalent): +13.00 D, +14.00 D; foveal cystic spaces: absent; optic nerve head drusen: absent; cataract: absent"	"0m"	""	"night blindness"	""	""	""	""	""	"nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen syndrome"	""	""
"0000306917"	"04214"	"00415116"	"00000"	"Familial, autosomal recessive"	"50y"	"best corrected visual acuity right, left eye: 6/9, 6/12 ; refractive error (spherical equivalent): +19.00 D, +20.00 D; cataract: absent"	""	""	""	""	""	""	""	""	"nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen syndrome"	""	""
"0000306918"	"04214"	"00415117"	"00000"	"Familial, autosomal recessive"	"47y"	"best corrected visual acuity right, left eye:  no perception of light hand movements ; refractive error (spherical equivalent): +18.00 D, +18.50 D; foveal cystic spaces: present; optic nerve head drusen: absent; cataract: bilateral cataract surgery"	"18y"	""	"night blindness"	""	""	""	""	""	"nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen syndrome"	""	""
"0000306919"	"04214"	"00415118"	"00000"	"Familial, autosomal recessive"	"42y"	"best corrected visual acuity: 6/60 both eyes; refractive error (spherical equivalent): , +30.00 D, +27.75 D; foveal cystic spaces: present; optic nerve head drusen: present; cataract: absent"	"<5y"	""	"night blindness"	""	""	""	""	""	"nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen syndrome"	""	""
"0000306920"	"04214"	"00415119"	"00000"	"Familial, autosomal recessive"	"34y"	"best corrected visual acuity: 6/60 both eyes; refractive error (spherical equivalent): +17.75 D, +18.00 D; foveal cystic spaces: present; optic nerve head drusen: absent; cataract: absent"	""	""	""	""	""	""	""	""	"nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen syndrome"	""	""
"0000306921"	"04214"	"00415120"	"00000"	"Familial, autosomal recessive"	""	"abnormally short axial length of the globe as determined by standardized ultrasonography, normal corneal diameters and anterior segment appearance, high hyperopia, and an abnormal papillomacular retinal fold on ophthalmoscopy"	""	""	""	""	""	""	""	""	"posterior microphthalmos"	""	""
"0000306922"	"04214"	"00415121"	"00000"	"Familial, autosomal recessive"	""	"abnormally short axial length of the globe as determined by standardized ultrasonography, normal corneal diameters and anterior segment appearance, high hyperopia, and an abnormal papillomacular retinal fold on ophthalmoscopy"	""	""	""	""	""	""	""	""	"posterior microphthalmos"	""	""
"0000306923"	"04214"	"00415122"	"00000"	"Familial, autosomal recessive"	"19y"	"spectacle correction in childhood, complaints of night and peripheral vision disturbances as well as difficulty with reading, mainly from the second decade of life; best corrected visual acuity: 20/30 with a refractive error of + 11.00 sphere in each eye; corneal curvatures: 52.00D spherical equivalent (normal mean - SD, 43.95 - 1.470), ultrasound A-scan: 16.4 mm (normal, 23.67 - 0.9), anterior chamber depth: 2.2 mm (normal, 2.9 - 0.3); corneal diameter and intraocular pressure: normal; near-infrared (NIR) reflectance images of the fundus: irregular margins of the optic nerve head, and peripheral retinal regions with chorioretinal atrophy and bone spicule-like pigment; autofluorescence: short wave- and NIR excitation consistent with a ~20deg diameter central region of retained retinal pigment epithelium-with normal or nearly normal signals originating from lipofuscin and melanin fluorophores, surrounding the central region was an annulus of hyperautofluorescence apparent in both SW- and NIR-RAFI; surrounding the hyperautofluorescent ring was an intermediate level of autofluorescence like that previously described in other forms of RP; optic disc drusen - small hyperautofluorescent dots on SW-RAFI; full field electroretinograms: abnormal: rod b-waves barely detectable (11 uV; normal, 299 - 52 uV); a mixed cone-rod ERG had reduced a- and b-wave amplitudes (awave, 33 uV [normal, 297 - 65 uV]; b-wave, 35 uV [normal, 497 - 111 uV]); and cone ERGs were reduced in amplitude (for single flash, 61 uV [normal, 173 - 32 uV]; and for flicker, 17 uV [normal, 172 - 35 uV]); rod sensitivity loss map by psychophysics: no detectable rod function in the far peripheral field, some retained rod sensitivity (between *1.5 and 2.5 log10 units reduced) in a wide region of the central field; cone sensitivity loss most evident in the nasal field, detectable cone function elsewhere in the field; at fixation, cone sensitivity within normal limits but reduced by 0.5-1.5 log10 units with increasing eccentricity into the temporal peripheral field; kinetic visual field: slight generalized constriction (more evident in the nasal field) to the V-4e target (70% of normal extent; 90% is 2 SD less than the normal mean); the I-4e target was detected only centrally (10% of normal extent; 90% is 2 SD less than the normal mean); optical coherence tomography: retinal thickness within normal limits across most of the retina except in the very central macula, the inner retina was significantly thicker than normal across the retinal area studied; outer nuclear layer (ONL) thicker than normal at the fovea, within normal limits in the parafoveal region, but thinner than normal across the remainder of the retina sampled, cross-sectional abnormal retinal laminar architecture; fovea devoid of a normal central depression and had substantial inner retinal lamination with a discernable inner nuclear layer (INL), microcystic changes anterior to the ONL, and considerable tissue vitreal to the INL; the deep hyporeflective layer had no cystic structures and measured 182.8 um (normal foveal ONL in the central 0.6 mm, 90.1 - 10.5 um; n = 16; age, 11-28 years); thickness across the central 4 mm within normal limits"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000306924"	"04214"	"00415123"	"00000"	"Familial, autosomal recessive"	"9y"	"started wearing glasses at age 7y, vision did not improve; best corrected visual acuity and refraction right / left eye: 0.2 [+15.0 diopters (D)] / 0.2 (with +13.0 D); intraocular pressure: 15 mmHg both eyes; no nystagmus; corneal diameter: 11.0 mm, anterior chamber depth: normal; fundus: crowded optic discs, dilation and tortuosity of the retinal vessels, absence of a normal foveal pit and presence of retinal folds; no signs of retinitis pigmentosa or optic disc drusen; optical coherence tomography: no foveal depression and no signs of macular cysts or foveoschisis in either eye; fluorescein retinal angiography: foveal avascular zone poorly developed, suggestive of foveal hypoplasia; full-field electroretinograms under dark-adapted and light-adapted conditions: amplitude and implicit time of aand b-waves - within normal limits; Goldmann perimeter: expansion of the Mariotte blind spot both eyes; B-mode ultrasonographic examinations: axial length right / left eye: 18.9 mm / 17.5 mm; magnetic resonance imaging: short axial lengths in both eyes and no abnormal findings in either the brain or orbit"	""	""	""	""	""	""	""	""	"posterior microphthalmos"	""	""
"0000306925"	"04214"	"00415124"	"00000"	"Familial, autosomal recessive"	"33y"	"measurements right/left eye: axial length: 15.85 mm / 15.91 mm; horizontal corneal diameter (white-to-white distance): 11.9 mm / 11.9 mm; anterior corneal curvature (keratometry) R-min (K-steep): 6.88 mm (49.0D) / 6.94 mm (48.6D); anterior corneal curvature (keratometry) R-max (K-flat): 7.16 mm (47.1D) / 7.19 mm (46.9D); anterior corneal curvature (keratometry) avg-R (avg-K): 7.02 mm (48.1D) / 7.07 mm (47.8D); anterior chamber depth: 3.41 mm / 3.41 mm; central corneal thickness: 514 um / 506 um; distance between temporal and nasal angular recesses measured in horizontal as-oct scans of the anterior segment of the eye: 11.5 mm / 11.5 mm; lens thickness: 5.70 mm / 5.65 mm; superior irido-corneal angle: 36.4deg / 21.0deg; nasal irido-corneal angle: 29.2deg / 20.5deg; inferior irido-corneal angle: 34.7deg / 24.5deg; temporal irido-corneal angle: 30.5deg / 27.4deg; optic disc area: 1.511 mm2 / 1.582 mm2; cup/disk area ratio: 0.004 / 0.214; at presentation: best corrected visual acuity right, left eye: 20/100, 20/100; iszontal diameter kinetic perimetry right / left eye, IV-4: 135deg/130deg, I-4: 67deg/60deg; spectral domain optical coherence tomography foveal thickness right / left eye (um): 575 / 545; 30m follow-up: best corrected visual acuity right, left eye: 20/125, 20/125; isopter horizontal diameter kinetic perimetry right / left eye, IV-4: 120deg/110deg; I-4: 65deg/57deg; spectral domain optical coherence tomography foveal thickness right / left eye (um): 591/518"	""	""	""	""	""	""	""	""	"posterior microphthalmos-renititis pigmentosa-foveoschisis-optic disk drusen syndrome"	""	""
"0000306936"	"04214"	"00415135"	"00000"	"Familial, autosomal recessive"	"11y"	"hyperopia, spherical equivalent (d): 12.38; horizontal corneal diameter (mm): 11.5; manual K average (d): 50; orbscan K average (d)49.5; overall K average (d): 49.75; corneal thickness average (mm): 547; central anterior chamber depth (mm): 2.99; lens thickness (mm)4.27; axial vitreous length (mm): 9.3; globe axial length (mm): 16.56; papillomacular foldmoderate"	""	""	""	""	""	""	""	""	"posterior microphthalmos"	""	""
"0000306956"	"04214"	"00415155"	"00000"	"Familial, autosomal recessive"	"10y"	"hyperopia, spherical equivalent (d): 16.25; horizontal corneal diameter (mm): 11.1; manual K average (d): 49.49; orbscan K average (d)49.9; overall K average (d): 49.69; corneal thickness average (mm): 613; central anterior chamber depth (mm): 3.19; lens thickness (mm)4.15; axial vitreous length (mm): 8.3; globe axial length (mm): 15.64; papillomacular foldthick"	""	""	""	""	""	""	""	""	"posterior microphthalmos"	""	""
"0000306969"	"04214"	"00415169"	"00000"	"Familial, autosomal recessive"	"7y"	"best corrected visual acuity right, left eye: 20/400, 20/200; refractive error right, left eye: +16.75 D, +14.0 D in the left eye; progressive nyctalopia and decreasing visual acuity since infancy; anterior segment: normal; intraocular pressure right, left eye: 14, 11 mmHg; biometry: reduced axial length right/left eye: 15.5 /16 mm; funduscopy: blunted foveal reflexes, cystic lesions, retinal pigment epithelium mottling, and atrophy at the central macula; fundus autofluorescence: small hyperfluorescent dots distributed over the entire macula with the highest density in the inferior perifoval region of both eyes; spectral domain optical coherence tomography: increased foveal thickness, right/left eye: 538 / 545 μm; foveal B scans: areas of low reflectivity due to multiple cysts located predominately in the ganglion cell layer and the inner and outer nuclear layers; ultrasonography: highly reflective optic nerve head drusen in both eyes; electrophysiology: dim flash dark adapted electroretinograms (DA 0.01): nt detectable, bright flash dark adapted electroretinograms (DA 10.0): marked a wave reduction, in keeping with loss of rod photoreceptor function; photopic flicker and single flash electroretinograms: delayed, amplitude reduction, indicating generalised retinal cone system dysfunction; pattern electroretinograms: subnormal P50s in both eyes and loss of N95 in the left eye"	"<1y"	""	"progressive nyctalopia and decreasing visual acuity"	""	""	""	""	""	"nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome"	""	""
"0000306970"	"04214"	"00415170"	"00000"	"Familial, autosomal recessive"	"37y"	"best corrected visual acuity: 20/200 both eyes; refractive error right, left eye: of -2,5 dioptres (D), -2,0 D; anterior segment: normal; intraocular pressure right, left eye: 13, 15 mmHg; biometry: normal axial length of 24.6 mm on both eyes; fundoscopic examination: diminished foveal reflexes, and subtle retinal pigment epithelium mottling; spectral domain optical coherence tomography: subfoveal optical gap with sharp vertical edges, inner segment/outer segment junction line absent but the external limiting membrane well preserved; hyperreflective dots, presumably representing remnants of degenerating photoreceptors visible in the optical gap; fundus autofluorescence showed a small oval shaped subfoveal area of reduced fundus autofluorescence corresponding to the subfoveal gap observed on optical coherence tomography; small, deep optic nerve head drusen noted on ultrasonography; electrophysiology: dim flash dark adapted electroretinograms (DA 0.01): profoundly delayed b waves, bright flash dark adapted electroretinograms (DA 10.0): normally developing a waves with a broadened trough and high amplitude b waves, photopic flicker and single flash electroretinograms: delayed and reduced, indicating a generalised retinal cone system dysfunction; pattern electroretinograms: not detectable, in keeping with severe macular dysfunction"	"15y"	""	"decreasing visual acuity and light sensitivity"	""	""	""	""	""	"cone dystrophy with supernormal rod electroretinogram"	""	""
"0000306971"	"04214"	"00415172"	"00000"	"Familial, autosomal recessive"	"4y"	"high hyperopia; cycloplegic: refractive error:  S+11,50 D both eyes; best corrected visual acuity: 5/20; fundus: macular fold, crowded and elevated optic disc, some vascular tortuositas; ultrasonography: axial length: 15 mm for each eye, further showing a thickened sclera and a prominent optic nerve with optic nerve drusen; autofluorescence imaging: normal, with exception of a slightly abnormal macular pattern at the level of the macular fold, and some granular hyperreflectivity around the inferior macular vessels in both eyes"	""	""	"high hyperopia"	""	""	""	""	""	"posterior microphthalmia"	""	""
"0000306972"	"04214"	"00415173"	"00000"	"Familial, autosomal recessive"	"3y"	"refractive error: S+11 both eyes; best corrected visual acuity right, left eye: 2/5, 5/10; funduscopy: abnormal macular reflex, but no obvious macular fold; optical coherence tomography: a small macular retinal fold"	""	""	"high hyperopia"	""	""	""	""	""	"posterior microphthalmia"	""	""
"0000306973"	"04214"	"00415176"	"00000"	"Familial, autosomal recessive"	"52y"	"history of progressive nyctalopia and visual acuity loss over the last two decades; best-corrected visual acuity: 20/200 in both eyes (with a correction of +12,75 diopter sphere); biomicoscopy: symmetric shallow anterior chambers, with corneal diameters of 12,5mm, and moderate nuclear lens opacity; gonioscopy: open angles; intraocularpressure: 10mmHg; fundoscopy: large optic disc drusen, cystic macular changes, and retinal pigment epithelium clumping and atrophy at the macular region and mid periphery in both eyes, as well as vascular sheathing; biometric scans: short axial length (16.79 mm in the right eye and 15.40 mm in the left eye); electroretinogram: abolished photopic and scotopic light response in both eyes, compatible with RP; optical coherence tomography: macular scans: diffuse increase in retinal thickness and hyporeflective cystic changes at the inner and outer plexiform layers and pocket of subfoveal fluid in the right eye; central foveal thickness right / left eye: 694 +/- 12 / 483 +/- 14 microns in the left eye; central retinal volume, right / left eye: 13.65mm3 / 10.49mm3 for two months; BCVA improved to 20/50, progressive decrease of macular thickness and of cystic changes, more pronounced at the right eye, was observed during the course of topical CAI treatment, and the central macular thickness improved to 355 +/- 12 microns in the right eye (central volume of 10.31mm3) and 361 +/- 22 microns in the left eye (central volume of 10.00mm3) ; macular thickness remained stable after six months of follow up (four months after discontinuation of the treatmen"	""	""	""	""	""	""	""	""	""	""	""
"0000306976"	"04214"	"00415177"	"00000"	"Familial, autosomal recessive"	"6y"	"best corrected visual acuity right/left eye: 0.3/0.4; refraction right/left eye: 18.63/18.75; axial length, mm: 14.46/14.25; horizontal corneal diameter, mm: 11.1/11.1; anterior chamber depth, mm: 2.91/2.58"	""	""	""	""	""	""	""	""	"high hyperopia"	""	""
"0000306977"	"04214"	"00415178"	"00000"	"Familial, autosomal recessive"	"12y"	"best corrected visual acuity right/left eye: 0.7/0.9; refraction right/left eye: 13.5/15; axial length, mm: 16.78/16.64; horizontal corneal diameter, mm: 11.6/11.6; anterior chamber depth, mm: 3.19/3.2"	""	""	""	""	""	""	""	""	"high hyperopia"	""	""
"0000306978"	"04214"	"00415179"	"00000"	"Familial, autosomal recessive"	"7y"	"best corrected visual acuity right/left eye: 0.7/0.9; refraction right/left eye: 16/15.75; axial length, mm: 16.62/16.5; horizontal corneal diameter, mm: 12/11.9; anterior chamber depth, mm: 3.45/3.52"	""	""	""	""	""	""	""	""	"high hyperopia"	""	""
"0000306979"	"04214"	"00415180"	"00000"	"Familial, autosomal recessive"	"17y"	"best corrected visual acuity right/left eye: 0.1/0.2; refraction right/left eye: 16.5/16.5; axial length, mm: not available; horizontal corneal diameter, mm: not available; anterior chamber depth, mm: not available"	""	""	""	""	""	""	""	""	"high hyperopia"	""	""
"0000306980"	"04214"	"00415181"	"00000"	"Familial, autosomal recessive"	"18y"	"best corrected visual acuity right, left eye: 20/35, 20/40; refractive error (D) right, left eye: +12.50/-1.00 x 175deg, +13.50/-0.75 x 10deg; fundus: mild optic disc pallor mild arteriolar attenuation; absent macular and foveal reflexes; subretinal yellowish white flecks from perifoveal area to mid periphery, grayish appearance of background retina except at the center of posterior pole; axial length right/left eye (mm):16.3,16.3; B-scan: bilateral optic disc drusen; optical coherence tomography: bilateral foveoschisis; full field electroretinogram: moderate rod-cone dysfunction; recurrent hypoglycemia: present; hepatomegaly: present; recurrent cutaneous abscess: severe; pulmonary stenosis: present; gastroenterology symptoms: recurrent diarrhea; height: 164 cm (10th percentile); neutrophils ref. range (1.0-5.0) x 109/l: 0.2-1.2 (median 0.3); lactate ref. range (0.5-2.2) mmol/l: 1.6-6.6 (median 2.3); uric acid ref. range (0.20-0.45) mmol/l: 0.34-0.65 (median 0.45); triglycerides ref. range (0.0-2.3) mmol/l: 2.0-7.2 (median 2.5); cholesterol ref. range (3.5-5.2) mmol/l: 3.3-4.6 (median 3.6); aspartate aminotransferase ref. range (0-40) U/l: 28-52 (median 26); alanine aminotransferase ref. range (0-40) U/l: 15-68 (median 24); alkaline phosphatase ref. range (40-129) U/l: 139-263 (median 204); estimated gfr normal > 60 ml/min/1.73 m2: > 90; urine albumin/creatinine ratio ref. range less than or equal to 2.5 mg/mmol in males or less than or equal to 3.5 mg/ mmol in females): 0.6-1.9 (median 0.8); alfa fetoprotein ref. range (0-7) kiU/l: < 1; findings on latest abdominal ultrasound: enlarged liver with hyperechoic parenchymal appearance, possible focal adenoma in segment VII ; findings on latest magnetic resonance imaging abdomen: overall stationary two focal lesions of the liver which are most probably adenomas"	""	""	""	""	""	""	""	""	"glycogen storage disease type Ib; nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome"	""	""
"0000306981"	"04214"	"00415182"	"00000"	"Familial, autosomal recessive"	"17y"	"best corrected visual acuity right, left eye: 20/40, 20/50; refractive error (D) right, left eye: +15.25-1.25 x 160deg, +15.62-1.00 x 10deg; fundus: mild optic disc pallor mild arteriolar attenuation; absent macular and foveal reflexes; subretinal yellowish white flecks from perifoveal area to mid periphery, grayish appearance of background retina except at the center of posterior pole; axial length right/left eye (mm):15.8,16.0; B-scan: bilateral optic disc drusen; optical coherence tomography: bilateral foveoschisis; full field electroretinogram: moderate rod-cone dysfunction; recurrent hypoglycemia: present; hepatomegaly: present; recurrent cutaneous abscess: mild; pulmonary stenosis: absent; gastroenterology symptoms: absent; height: 139 cm (���4 SD for age); neutrophils ref. range (1.0-5.0) x 109/l: 0.3-1.6 (median 0.7); lactate ref. range (0.5-2.2) mmol/l: 2.4-8.3 (median 4.4); uric acid ref. range (0.20-0.45) mmol/l: 0.27-1.05 (median 0.82) on allopurinol; triglycerides ref. range (0.0-2.3) mmol/2.9 (median 7.5); cholesterol ref. range (3.5-5.2) mmol/l: 4.9-9.6 (median 5.9); aspartate aminotransferase ref. range (0-40) U/l: 31-87 (median 40); alanine aminotransferase ref. range (0-40) U/l: 22-84 (median 40); alkaline phosphatase ref. range (40-129) U/l: 130-350 (median 211); estimated gfr normal > 60 ml/min/1.73 m2: > 90; urine albumin/creatinine ratio ref. range less than or equal to 2.5 mg/mmol in males or less than or equal to 3.5 mg/ mmol in females): 5.0-105 (median 15) Overt nephropathy/Heavy Proteinuria > or = 70 mg/mmol, now on Lisinopril; alfa fetoprotein ref. range (0-7) kiU/l: < 1; findings on latest abdominal ultrasound: hepatomegaly, fatty liver, small hypoechoic lesion in the right lobe, hyperechogenic kidneys; findings on latest magnetic resonance imaging abdomen: not done yet"	""	""	""	""	""	""	""	""	"glycogen storage disease type Ib; nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome"	""	""
"0000306982"	"04214"	"00415183"	"00000"	"Familial, autosomal recessive"	"13y"	"best corrected visual acuity right, left eye: 20/60, 20/50; refractive error (D) right, left eye: +12.00/-2.62 x 180deg, +12.12/-2.00 x 175deg; fundus: mild optic disc pallor mild arteriolar attenuation; absent macular and foveal reflexes; subretinal yellowish white flecks from perifoveal area to mid periphery, grayish appearance of background retina except at the center of posterior pole; axial length right/left eye (mm):17.2,17.5; B-scan: bilateral optic disc drusen; optical coherence tomography: bilateral foveoschisis; full field electroretinogram: moderate rod-cone dysfunction; recurrent hypoglycemia: present; hepatomegaly: present; recurrent cutaneous abscess: mild; pulmonary stenosis: present; gastroenterology symptoms: absent; height: 149 cm (just above the 3rd percentile); neutrophils ref. range (1.0-5.0) x 109/l: 0.2-1.11 (median 0.5); lactate ref. range (0.5-2.2) mmol/l: 1.5-5.2 (median 2.6); uric acid ref. range (0.20-0.45) mmol/l: 0.38-0.59 (median 0.4); triglycerides ref. range (0.0-2.3) mmol/l: 1.8-11.6 (median 3.0); cholesterol ref. range (3.5-5.2) mmol/l: 3.2-4.6 (median 3.8); aspartate aminotransferase ref. range (0-40) U/l: 22-105 (median 33); alanine aminotransferase ref. range (0-40) U/l: 19-82 (median 31); alkaline phosphatase ref. range (40-129) U/l: 159-224 (median 195); estimated gfr normal > 60 ml/min/1.73 m2: Normal; urine albumin/creatinine ratio ref. range less than or equal to 2.5 mg/mmol in males or less than or equal to 3.5 mg/ mmol in females): Normal; alfa fetoprotein ref. range (0-7) kiU/l: < 1; findings on latest abdominal ultrasound: Hepatomegaly with fatty liver changes; findings on latest magnetic resonance imaging abdomen: not done yet"	""	""	""	""	""	""	""	""	"glycogen storage disease type Ib; nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome"	""	""
"0000306991"	"04214"	"00415193"	"00000"	"Familial, autosomal recessive"	"9y"	"bilateral simple microphthalmia"	""	""	""	""	""	""	""	""	"microphthalmia"	""	""
"0000306992"	"04214"	"00415194"	"00000"	"Familial, autosomal recessive"	"12y"	"bilateral simple microphthalmia"	""	""	""	""	""	""	""	""	"microphthalmia"	""	""
"0000306998"	"04214"	"00415200"	"00000"	"Familial, autosomal recessive"	"28y"	"best corrected visual acuity right/left eye: 20/40/20/40; refraction right/left eye: +20.5 OD/+21.5 OS; axial length, mm: 15.59/15.48; horizontal corneal diameter, mm: 11.5/11.5; anterior chamber depth, mm: 3.12/3.14; average macular thickness: 346.2/354.2; average retinal nerve fiber layer thickness: 146/144; fundus appearance and fluorescein angiography both eyes: retinitis pigmentosa, papillomacular retinal fold, absence of the capillary-free zone, crowded optic disc; optical coherence tomography: diffuse macular thickening, outer retinal layer schisis, papillomacular retinal fold; electroretinography: moderate rod and cone responses both eyes (more left eye)"	""	""	""	""	""	""	""	""	"posterior microphthalmos-renititis pigmentosa-foveoschisis syndrome without optic disk drusen"	""	""
"0000306999"	"04214"	"00415201"	"00000"	"Familial, autosomal recessive"	"22y"	"best corrected visual acuity right/left eye: 20/25/20/35; refraction right/left eye: +19 OD/+19 OS; axial length, mm: 15.64/15.72; horizontal corneal diameter, mm: 11.6/11.9; anterior chamber depth, mm: 3.19/3.07; average macular thickness: 319.3/327.6; average retinal nerve fiber layer thickness: 116/108; fundus appearance and fluorescein angiography both eyes: retinitis pigmentosa, papillomacular retinal fold, absence of the capillary-free zone, crowded optic disc; optical coherence tomography: diffuse macular thickening, outer retinal layer schisis, papillomacular retinal fold; electroretinography: moderate rod and cone responses both eyes"	""	""	""	""	""	""	""	""	"posterior microphthalmos-renititis pigmentosa-foveoschisis syndrome without optic disk drusen"	""	""
"0000307000"	"04214"	"00415202"	"00000"	"Familial, autosomal recessive"	"10y"	"best corrected visual acuity right/left eye: 20/35/20/40; refraction right/left eye: +24 OD/+24 OS; axial length, mm: 15.1/15.09; horizontal corneal diameter, mm: 11.7/12; anterior chamber depth, mm: 3.23/3.33; average macular thickness: 345.9/346.1; average retinal nerve fiber layer thickness: 125/145; fundus appearance and fluorescein angiography both eyes: retinitis pigmentosa, papillomacular retinal fold, absence of the capillary-free zone, crowded optic disc; optical coherence tomography: diffuse macular thickening, outer retinal layer schisis, papillomacular retinal fold; electroretinography: moderate rod responses and discrete reduction of cone response both eyes"	""	""	""	""	""	""	""	""	"posterior microphthalmos-renititis pigmentosa-foveoschisis syndrome without optic disk drusen"	""	""
"0000307006"	"04214"	"00415208"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"nanophthalmos"	""	""
"0000307010"	"04214"	"00415212"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"nanophthalmos"	""	""
"0000307012"	"04214"	"00415214"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"nanophthalmos"	""	""
"0000312161"	"04214"	"00420921"	"00000"	"Familial, autosomal dominant"	"44y"	"peripupillary iris atrophy and long anterior lens zonules; fundus examination: typical retinal pigment epithelium pigmentary changes temporal to the macula in all eyes at baseline; progression: best corrected visual acuity and contrast sensitivity at 62, 64 and 66y: -0.04/1.35, 0.02/0.9, 0.02/1.05 (significant reduction in BCVA during follow-up); the loss of ellipsoid zone integrity spread from an area temporal to the macula, nasally toward the optic disc and that the progression of ellipsoid zone disruption is associated with the progression of functional retinal impairment; close relationship between the ellipsoid zone disruption and a sharp demarcation in retinal sensitivity early in the disease, associated with a loss of approximately 7 to 20 dB across the junction of the ellipsoid zone disruption; annual decline in retinal sensitivity was 3.0 dB/ year (range 2.05-4.75); gradual temporal to nasal spread of retinal pigment epithelium granularity and atrophy not closely related to changes in ellipsoid zone disruption or retinal sensitivity loss; areas outside the zones of ellipsoid zone disruption that also suffer progressive loss of retinal sensitivity; more rapidly progressive form of disease, Goldmann visual field demonstrates similar findings to the microperimetry and the extent of ellipsoid zone disruption, with progression large nasal visual field defect outside of the area tested by mesopic microperimetry"	"42y"	""	"nyctalopia"	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000312162"	"04214"	"00420922"	"00000"	"Familial, autosomal dominant"	"54y"	"peripupillary iris atrophy and long anterior lens zonules; fundus examination: typical retinal pigment epithelium pigmentary changes temporal to the macula in all eyes at baseline; progression: best corrected visual acuity and contrast sensitivity at 54, 56 and 58y: 0.0/1.35, -0.08/0.9, 0.12/0.75 (significant reduction in contrast sensitivity) the loss of ellipsoid zone integrity spread from an area temporal to the macula, nasally toward the optic disc and that the progression of ellipsoid zone disruption is associated with the progression of functional retinal impairment; close relationship between the ellipsoid zone disruption and a sharp demarcation in retinal sensitivity early in the disease, associated with a loss of approximately 7 to 20 dB across the junction of the ellipsoid zone disruption; annual decline in retinal sensitivity was 3.0 dB/ year (range 2.05-4.75); gradual temporal to nasal spread of retinal pigment epithelium granularity and atrophy not closely related to changes in ellipsoid zone disruption or retinal sensitivity loss; areas outside the zones of ellipsoid zone disruption that also suffer progressive loss of retinal sensitivity; temporal to nasal progression of the ellipsoid zone disruption, along with more peripheral separation of RPE and Bruch membrane, which migrated toward the fovea at a much slower rate than ellipsoid zone disruption; the advancement of ellipsoid zone disruption is preceded by focal subretinal deposits; normal peripheral and central visual fields during the 4 years of follow-up despite an advancing zone of infero-temporal loss of mesopic retinal sensitivity"	"51y"	""	"nyctalopia"	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000312163"	"04214"	"00420923"	"00000"	"Familial, autosomal dominant"	"62y"	"peripupillary iris atrophy and long anterior lens zonules; fundus examination: typical retinal pigment epithelium pigmentary changes temporal to the macula in all eyes at baseline; progression: best corrected visual acuity and contrast sensitivity at 44, 46 and 48y: -0.12/1.35, -0.08/1.35, -0.08/1.5 (significant reduction in contrast sensitivity) the loss of ellipsoid zone integrity spread from an area temporal to the macula, nasally toward the optic disc and that the progression of ellipsoid zone disruption is associated with the progression of functional retinal impairment; close relationship between the ellipsoid zone disruption and a sharp demarcation in retinal sensitivity early in the disease, associated with a loss of approximately 7 to 20 dB across the junction of the ellipsoid zone disruption; annual decline in retinal sensitivity was 3.0 dB/ year (range 2.05-4.75); gradual temporal to nasal spread of retinal pigment epithelium granularity and atrophy not closely related to changes in ellipsoid zone disruption or retinal sensitivity loss; areas outside the zones of ellipsoid zone disruption that also suffer progressive loss of retinal sensitivity; temporal to nasal progression of the ellipsoid zone disruption, along with more peripheral separation of RPE and Bruch membrane, which migrated toward the fovea at a much slower rate than ellipsoid zone disruption; central scotoma involving fixation at baseline when mesopic microperimetry and ellipsoid zone integrity show that the central macula is unaffected; central scotoma changed little over the following 4 years despite significant loss of mesopic retinal sensitivity and almost complete loss of posterior pole ellipsoid zone integrity"	"55y"	""	"nyctalopia"	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000312165"	"04214"	"00420925"	"00000"	"Familial, autosomal dominant"	"72y"	"refraction (diopters) right/left eye: 0/0; best corrected visual acuity right, left eye: 20/20, 20/20; slit-lamp examination: iris transillumination 360deg; onset night blindness, years: 50; optical coherence tomography: thickened interdigitation zone, hyperinterdigitation zone, loss of interdigitation zone, loss of ellipsoid zone; fundus: widespread peripheral small white dots towards paving stone-like atrophic patches towards confluent atrophy"	"60y"	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000312166"	"04214"	"00420926"	"00000"	"Familial, autosomal dominant"	"57y"	"refraction (diopters) right/left eye: -0.5(-0.5 x 80deg)/0(-0.5 x 72deg); best corrected visual acuity right, left eye: 20/20, 20/20; slit-lamp examination: poor dilation; onset night blindness, years: 53; optical coherence tomography: normal; fundus: widespread peripheral small white dots"	"55y"	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000312167"	"04214"	"00420927"	"00000"	"Familial, autosomal dominant"	"82y"	"refraction (diopters) right/left eye: +1.75(1.25 x 25deg)/+1.25(0.5 x 65deg); best corrected visual acuity right, left eye: hand movement, hand movement; slit-lamp examination: poor dilation, peripapillary atrophy, iris transillumination 360deg; onset night blindness, years: 55; optical coherence tomography: atrophy loss of interdigitation zone, loss of ellipsoid zone, very thin to no choroid left; fundus: confluent atrophy, with remnant of paving stone-like atrophic patches in the superior and inferior periphery"	"81y"	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000312168"	"04214"	"00420928"	"00000"	"Familial, autosomal dominant"	"69y"	"refraction (diopters) right/left eye: 3.75/2.5; best corrected visual acuity right, left eye: hand movement (amblyopia), 20/32; slit-lamp examination: poor dilation, peripapillary atrophy, iris transillumination 360deg; onset night blindness, years: 50; optical coherence tomography: loss of interdigitation zone, loss of ellipsoid zone, very thin to no choroid left; fundus: paving stone atrophic changes from macular area towards periphery towards complete atrophy"	"56y"	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000312169"	"04214"	"00420929"	"00000"	"Familial, autosomal dominant"	"66y"	"refraction (diopters) right/left eye: 0/0; best corrected visual acuity right, left eye: 20/20, 20/20; slit-lamp examination: discrete peripapillary atrophy, iris transillumination; onset night blindness, years: 44; optical coherence tomography: thickened interdigitation zone, hyperinterdigitation zone, loss of ellipsoid zone; fundus: paving stone-like atrophic patches inferotemporal of the macula, moderate macular atrophy, widespread peripheral small white dots towards confluent atrophic patches"	"57y"	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000312170"	"04214"	"00420930"	"00000"	"Familial, autosomal dominant"	"66y"	"refraction (diopters) right/left eye: -0.75/-0.75; best corrected visual acuity right, left eye: 20/20, 20/20; slit-lamp examination: poor dilation, peripapillary atrophy, iris transillumination 360deg; onset night blindness, years: 50; optical coherence tomography: hyperinterdigitation zone, loss of interdigitation zone, loss of ellipsoid zone; fundus: normal towards widespread small white dots towards mid-peripheral atrophy and macular atrophy"	"32y"	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000312171"	"04214"	"00420931"	"00000"	"Familial, autosomal dominant"	"65y"	"refraction (diopters) right/left eye: 0/0; best corrected visual acuity right, left eye: 20/20, 20/20; slit-lamp examination: normal; onset night blindness, years: 45; optical coherence tomography: thickened interdigitation zone, hyperinterdigitation zone; fundus: temporal and peripheral widespread white dots and macular thick drusenoid deposits towards paving stone-like atrophic patches"	"52y"	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000312172"	"04214"	"00420932"	"00000"	"Familial, autosomal dominant"	"68y"	"refraction (diopters) right/left eye: 1.5/1.25; best corrected visual acuity right, left eye: counting fingers, 20/40; slit-lamp examination: poor dilation, peripapillary atrophy, midperipheral atrophy with discrete iris transillumination; onset night blindness, years: 50; optical coherence tomography: hyperinterdigitation zone, loss of interdigitation zone, loss of ellipsoid zone; fundus: macular and mid-peripheral paving stone-like atrophic patches towards confluent atrophy later on"	"59y"	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000312173"	"04214"	"00420933"	"00000"	"Familial, autosomal dominant"	"56y"	"refraction (diopters) right/left eye: 0/-0.75(-0.5 x 90deg); best corrected visual acuity right, left eye: 20/20, 20/20; slit-lamp examination: poor dilation; onset night blindness, years: 48; optical coherence tomography: thickened interdigitation zone; fundus: peripheral clusters of small white dots, no atrophy"	"49y"	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000312174"	"04214"	"00420934"	"00000"	"Familial, autosomal dominant"	"80y"	"refraction (diopters) right/left eye: +2/+1.25; best corrected visual acuity right, left eye: 20/25, 20/20; slit-lamp examination: poor dilation, long anteriorly inserted lens zonules; onset night blindness, years: 50; optical coherence tomography: na; fundus: mid-peripheral paving stone-like atrophic patches towards macular atrophy and confluent atrophy"	"58y"	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000312175"	"04214"	"00420935"	"00000"	"Familial, autosomal dominant"	"60y"	"refraction (diopters) right/left eye: -1/-1.75; best corrected visual acuity right, left eye: 20/32, 20/40; slit-lamp examination: na; onset night blindness, years: 45; optical coherence tomography: na; fundus: mid-peripheral paving stone-like atrophy"	"59y"	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000312176"	"04214"	"00420936"	"00000"	"Familial, autosomal dominant"	"57y"	"refraction (diopters) right/left eye: +2.5(-0.5 x 50deg)/+2.25(-0.25 x 90deg); best corrected visual acuity right, left eye: 20/20, 20/40, amblyopia; slit-lamp examination: normal; onset night blindness, years: 55; optical coherence tomography: normal; fundus: widespread peripheral small white dots"	"56y"	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000312177"	"04214"	"00420937"	"00000"	"Familial, autosomal dominant"	"51y"	"refraction (diopters) right/left eye: 0/0; best corrected visual acuity right, left eye: 20/20, 20/40; slit-lamp examination: moth eaten appearance; onset night blindness, years: 50; optical coherence tomography: thickened interdigitation zone; fundus: widespread peripheral small white dots"	"50y"	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000312178"	"04214"	"00420938"	"00000"	"Familial, autosomal dominant"	"49y"	"refraction (diopters) right/left eye: -0.5/-0.25; best corrected visual acuity right, left eye: 20/20, 20/20; slit-lamp examination: normal; onset night blindness, years: 48; optical coherence tomography: thickened interdigitation zone, drusenoid deposits; fundus: thick drusenoid deposits with circular spreading within the vascular arcades"	"48y"	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000312179"	"04214"	"00420939"	"00000"	"Familial, autosomal dominant"	"61y"	"refraction (diopters) right/left eye: -0.5/-0.5; best corrected visual acuity right, left eye: 20/20, 20/20; slit-lamp examination: poor dilation, peripapillary atrophy, iris transillumination; onset night blindness, years: 54; optical coherence tomography: thickened interdigitation zone, hyperinterdigitation zone, loss of ellipsoid zone; fundus: mid-peripheral paving stone-like atrophic patches mixed with small white dots with spread of atrophic patches"	"54y"	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000312180"	"04214"	"00420940"	"00000"	"Familial, autosomal dominant"	"57y"	"refraction (diopters) right/left eye: 0/0; best corrected visual acuity right, left eye: 20/20, 20/20; slit-lamp examination: normal; onset night blindness, years: none; optical coherence tomography: thickened interdigitation zone, drusen, hyperinterdigitation zone; fundus: (mid-)peripheral and macular small to drusenoid deposits towards limited number of paving stone-like atrophic patches"	"52y"	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000312181"	"04214"	"00420941"	"00000"	"Familial, autosomal dominant"	"35y"	"refraction (diopters) right/left eye: 0/0; best corrected visual acuity right, left eye: 20/20, 20/20; slit-lamp examination: normal; onset night blindness, years: none; optical coherence tomography: none available; fundus: widespread peripheral small white dots"	"34y"	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000312182"	"04214"	"00420942"	"00000"	"Familial, autosomal dominant"	"36y"	"refraction (diopters) right/left eye: 0/0; best corrected visual acuity right, left eye: 20/20, 20/20; slit-lamp examination: normal; onset night blindness, years: none; optical coherence tomography: normal; fundus: limited peripheral small white dots"	"34y"	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000312183"	"04214"	"00420943"	"00000"	"Familial, autosomal dominant"	"42y"	"refraction (diopters) right/left eye: -2(-0.5 x 70deg)/0(-0.25 x 140deg); best corrected visual acuity right, left eye: 20/20, 20/20; slit-lamp examination: normal; onset night blindness, years: 35; optical coherence tomography: thickend interdigitation zone, drusen; fundus: thick subretinal drusenoid deposits in the inferotemporal macula"	"34y"	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000312184"	"04214"	"00420944"	"00000"	"Familial, autosomal dominant"	"65y"	"refraction (diopters) right/left eye: 1.75/1; best corrected visual acuity right, left eye: 20/20, 20/200; slit-lamp examination: long anteriorly inserted lens zonules; onset night blindness, years: 50; optical coherence tomography: hyperinterdigitation zone, loss of ellipsoid zone; fundus: paving stone-like atrophic patches and macular atrophy with confluent atrophy later on"	"36y"	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000312185"	"04214"	"00420945"	"00000"	"Familial, autosomal dominant"	"21y"	"refraction (diopters) right/left eye: 0/0; best corrected visual acuity right, left eye: 20/20, 20/20; slit-lamp examination: normal; onset night blindness, years: none; optical coherence tomography: normal; fundus: normal"	"20y"	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000312186"	"04214"	"00420946"	"00000"	"Familial, autosomal dominant"	"33y"	"refraction (diopters) right/left eye: 0/0; best corrected visual acuity right, left eye: 20/20, 20/20; slit-lamp examination: normal; onset night blindness, years: none; optical coherence tomography: normal; fundus: normal"	"26y"	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000312187"	"04214"	"00420947"	"00000"	"Familial, autosomal dominant"	"33y"	"refraction (diopters) right/left eye: 0/0; best corrected visual acuity right, left eye: 20/20, 20/20; slit-lamp examination: normal; onset night blindness, years: none; optical coherence tomography: normal; fundus: normal"	"31y"	""	""	""	""	""	""	""	"late-onset macular degeneration"	""	""
"0000312189"	"04214"	"00420949"	"00000"	"Familial, autosomal dominant"	"70y"	"first exam: best corrected visual acuity and refraction right, left eye:1.0/1.0, not available; last exam: best corrected visual acuity and refraction right, left eye:0.16/0.16, 1.0; +0.50 -1.25/64deg"	"40y"	""	""	""	""	""	""	""	"gyrate atrophy-like choroidal dystrophy"	""	""
"0000312190"	"04214"	"00420950"	"00000"	"Familial, autosomal dominant"	"41y"	"first exam: best corrected visual acuity and refraction right, left eye:1.0/1.0, not available; last exam: best corrected visual acuity and refraction right, left eye:-, -"	"40y"	""	""	""	""	""	""	""	"gyrate atrophy-like choroidal dystrophy"	""	""
"0000312191"	"04214"	"00420951"	"00000"	"Familial, autosomal dominant"	"63y"	"first exam: best corrected visual acuity and refraction right, left eye:1.0/1.0, +2.25 -2.25/11deg; last exam: best corrected visual acuity and refraction right, left eye:0.63/0.63, -0.50 -0.75/75deg; +3.25 -1.25/166deg"	"18y"	""	""	""	""	""	""	""	"gyrate atrophy-like choroidal dystrophy"	""	""
"0000312192"	"04214"	"00420952"	"00000"	"Familial, autosomal dominant"	"58y"	"first exam: best corrected visual acuity and refraction right, left eye:0.5/0.63, -0.25 -2.25/168deg; +/-0.00 -0.50/25deg; last exam: best corrected visual acuity and refraction right, left eye:-, -"	""	""	""	""	""	""	""	""	"gyrate atrophy-like choroidal dystrophy"	""	""
"0000312193"	"04214"	"00420953"	"00000"	"Familial, autosomal dominant"	"53y"	"first exam: best corrected visual acuity and refraction right, left eye:1.0/1.0, +1.75 -1.50/94deg; +1.50 -1.50/95deg; last exam: best corrected visual acuity and refraction right, left eye:-, -"	"24y"	""	""	""	""	""	""	""	"gyrate atrophy-like choroidal dystrophy"	""	""
"0000312194"	"04214"	"00420954"	"00000"	"Familial, autosomal dominant"	"56y"	"first exam: best corrected visual acuity and refraction right, left eye:0.63/0.63, -0.75 -1.75/90deg; -0.25 -1.50/85deg; last exam: best corrected visual acuity and refraction right, left eye:0.4/0.25,  -0.75 -2.50/87deg; -1.75 -1.50/95deg"	"40y"	""	""	""	""	""	""	""	"gyrate atrophy-like choroidal dystrophy"	""	""
"0000317808"	"04214"	"00426653"	"00000"	"Familial, autosomal dominant"	""	"nyctalopia, early paracentral visual field loss"	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000317809"	"04214"	"00426654"	"00000"	"Familial, autosomal dominant"	""	"nyctalopia, early paracentral visual field loss"	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000317810"	"04214"	"00426655"	"00000"	"Familial, autosomal dominant"	""	"nyctalopia, early paracentral visual field loss"	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000336132"	"00198"	"00446933"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, autosomal dominant"	""
"0000336133"	"00198"	"00446934"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, autosomal dominant"	""
"0000336156"	"00198"	"00446957"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, autosomal dominant"	""
"0000336481"	"00198"	"00447282"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""


## Screenings ## Do not remove or alter this header ##
## Count = 209
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000291435"	"00290267"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000325718"	"00324526"	"1"	"03960"	"03960"	"2020-12-18 10:26:14"	"00006"	"2021-01-05 14:19:27"	"SEQ;SEQ-NG"	"DNA"	"Blood"	"WES"
"0000329265"	"00328050"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000329293"	"00328078"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000333264"	"00332045"	"1"	"00000"	"00006"	"2021-02-14 10:12:05"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335803"	"00334574"	"1"	"00000"	"00006"	"2021-03-01 15:50:09"	""	""	"SEQ-NG"	"DNA"	""	"105-gene panel"
"0000337189"	"00335959"	"1"	"00000"	"00006"	"2021-03-10 17:05:56"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000360446"	"00359208"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000373293"	"00372065"	"1"	"00000"	"00006"	"2021-05-06 16:52:04"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000373752"	"00372519"	"1"	"00006"	"00006"	"2021-05-08 11:34:03"	""	""	"SEQ-NG"	"DNA"	""	""
"0000378692"	"00377489"	"1"	"00000"	"03840"	"2021-07-22 14:34:00"	""	""	"?"	"DNA"	""	"various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES"
"0000378693"	"00377490"	"1"	"00000"	"03840"	"2021-07-22 14:34:00"	""	""	"?"	"DNA"	""	"various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES"
"0000378694"	"00377491"	"1"	"00000"	"03840"	"2021-07-22 14:34:00"	""	""	"?"	"DNA"	""	"various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES"
"0000378695"	"00377492"	"1"	"00000"	"03840"	"2021-07-22 14:34:00"	""	""	"?"	"DNA"	""	"various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES"
"0000385554"	"00384329"	"1"	"00000"	"03840"	"2021-09-29 13:19:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel of 126 genes"
"0000387389"	"00386160"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387390"	"00386161"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387391"	"00386162"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387392"	"00386163"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387476"	"00386247"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000391418"	"00390177"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000391547"	"00390306"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000415900"	"00414619"	"1"	"00000"	"03840"	"2022-07-30 13:02:28"	"03840"	"2022-07-30 20:27:52"	"SEQ;STR"	"DNA"	"blood"	""
"0000415901"	"00414620"	"1"	"00000"	"03840"	"2022-07-30 13:02:28"	"03840"	"2022-07-30 20:28:41"	"SEQ;STR"	"DNA"	"blood"	""
"0000415902"	"00414621"	"1"	"00000"	"03840"	"2022-07-30 13:02:28"	"03840"	"2022-07-30 20:34:06"	"SEQ;STR"	"DNA"	"blood"	""
"0000415903"	"00414622"	"1"	"00000"	"03840"	"2022-07-30 13:02:28"	"03840"	"2022-07-30 20:34:58"	"SEQ;STR"	"DNA"	"blood"	""
"0000415904"	"00414623"	"1"	"00000"	"03840"	"2022-07-30 13:02:28"	"03840"	"2022-07-30 20:36:09"	"SEQ;STR"	"DNA"	"blood"	""
"0000415905"	"00414624"	"1"	"00000"	"03840"	"2022-07-30 13:02:28"	"03840"	"2022-07-30 20:36:37"	"SEQ;STR"	"DNA"	"blood"	""
"0000415906"	"00414625"	"1"	"00000"	"03840"	"2022-07-30 13:02:28"	"03840"	"2022-07-30 20:37:46"	"SEQ;STR"	"DNA"	"blood"	""
"0000415907"	"00414626"	"1"	"00000"	"03840"	"2022-07-30 13:02:28"	"03840"	"2022-07-30 20:38:36"	"SEQ;STR"	"DNA"	"blood"	""
"0000415908"	"00414627"	"1"	"00000"	"03840"	"2022-07-30 13:02:28"	"03840"	"2022-07-30 20:39:03"	"SEQ;STR"	"DNA"	"blood"	""
"0000415909"	"00414628"	"1"	"00000"	"03840"	"2022-07-30 13:02:28"	"03840"	"2022-07-30 20:39:29"	"SEQ;STR"	"DNA"	"blood"	""
"0000415910"	"00414629"	"1"	"00000"	"03840"	"2022-07-30 13:02:28"	"03840"	"2022-07-30 20:40:08"	"SEQ;STR"	"DNA"	"blood"	""
"0000415911"	"00414630"	"1"	"00000"	"03840"	"2022-07-30 13:02:28"	"03840"	"2022-07-30 20:40:42"	"SEQ;STR"	"DNA"	"blood"	""
"0000415912"	"00414631"	"1"	"00000"	"03840"	"2022-07-30 13:02:28"	"03840"	"2022-07-30 20:41:37"	"SEQ;STR"	"DNA"	"blood"	""
"0000415913"	"00414632"	"1"	"00000"	"03840"	"2022-07-30 13:02:28"	"03840"	"2022-07-30 20:42:31"	"SEQ;STR"	"DNA"	"blood"	""
"0000415914"	"00414633"	"1"	"00000"	"03840"	"2022-07-30 13:02:28"	"03840"	"2022-07-30 20:43:22"	"SEQ;STR"	"DNA"	"blood"	""
"0000415915"	"00414634"	"1"	"00000"	"03840"	"2022-07-30 13:02:28"	"03840"	"2022-07-30 20:44:40"	"SEQ;STR"	"DNA"	"blood"	""
"0000415916"	"00414635"	"1"	"00000"	"03840"	"2022-07-30 13:02:28"	"03840"	"2022-07-30 20:45:18"	"SEQ;STR"	"DNA"	"blood"	""
"0000415917"	"00414636"	"1"	"00000"	"03840"	"2022-07-30 13:02:28"	"03840"	"2022-07-30 20:46:06"	"SEQ;STR"	"DNA"	"blood"	""
"0000415918"	"00414637"	"1"	"00000"	"03840"	"2022-07-30 13:02:28"	"03840"	"2022-07-30 20:46:46"	"SEQ;STR"	"DNA"	"blood"	""
"0000415919"	"00414638"	"1"	"00000"	"03840"	"2022-07-30 13:02:28"	"03840"	"2022-07-30 20:47:23"	"SEQ;STR"	"DNA"	"blood"	""
"0000415920"	"00414639"	"1"	"00000"	"03840"	"2022-07-30 13:02:28"	"03840"	"2022-07-30 20:47:53"	"SEQ;STR"	"DNA"	"blood"	""
"0000415921"	"00414640"	"1"	"00000"	"03840"	"2022-07-30 13:02:28"	"03840"	"2022-07-30 20:48:23"	"SEQ;STR"	"DNA"	"blood"	""
"0000415922"	"00414641"	"1"	"00000"	"03840"	"2022-07-30 13:02:28"	"03840"	"2022-07-30 20:49:06"	"SEQ;STR"	"DNA"	"blood"	""
"0000415923"	"00414642"	"1"	"00000"	"03840"	"2022-07-30 13:02:28"	"03840"	"2022-07-30 20:49:49"	"SEQ;STR"	"DNA"	"blood"	""
"0000415952"	"00414671"	"1"	"00000"	"03840"	"2022-07-30 20:53:22"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000415953"	"00414672"	"1"	"00000"	"03840"	"2022-07-30 20:53:22"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000415954"	"00414673"	"1"	"00000"	"03840"	"2022-07-30 20:53:22"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000415955"	"00414674"	"1"	"00000"	"03840"	"2022-07-30 20:53:22"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000415956"	"00414675"	"1"	"00000"	"03840"	"2022-07-30 20:53:22"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000415957"	"00414676"	"1"	"00000"	"03840"	"2022-07-30 20:53:22"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000415958"	"00414677"	"1"	"00000"	"03840"	"2022-07-30 20:53:22"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000415959"	"00414678"	"1"	"00000"	"03840"	"2022-07-30 20:53:22"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000415960"	"00414679"	"1"	"00000"	"03840"	"2022-07-30 20:53:22"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000415961"	"00414680"	"1"	"00000"	"03840"	"2022-07-30 20:53:22"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000415962"	"00414681"	"1"	"00000"	"03840"	"2022-07-30 20:53:22"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000415963"	"00414682"	"1"	"00000"	"03840"	"2022-07-30 20:53:22"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000415964"	"00414683"	"1"	"00000"	"03840"	"2022-07-30 20:53:22"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000415965"	"00414684"	"1"	"00000"	"03840"	"2022-07-30 20:53:22"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000415966"	"00414685"	"1"	"00000"	"03840"	"2022-07-30 20:53:22"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000415967"	"00414686"	"1"	"00000"	"03840"	"2022-07-30 20:53:22"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000415968"	"00414687"	"1"	"00000"	"03840"	"2022-07-30 20:53:22"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000415969"	"00414688"	"1"	"00000"	"03840"	"2022-07-30 20:53:22"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000415970"	"00414689"	"1"	"00000"	"03840"	"2022-07-30 20:53:22"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000415971"	"00414690"	"1"	"00000"	"03840"	"2022-07-30 20:53:22"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000415972"	"00414691"	"1"	"00000"	"03840"	"2022-07-30 20:53:22"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000415973"	"00414692"	"1"	"00000"	"03840"	"2022-07-30 20:53:22"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000415974"	"00414693"	"1"	"00000"	"03840"	"2022-07-30 20:53:22"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000415975"	"00414694"	"1"	"00000"	"03840"	"2022-07-30 20:53:22"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000415976"	"00414695"	"1"	"00000"	"03840"	"2022-07-30 20:53:22"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000415977"	"00414696"	"1"	"00000"	"03840"	"2022-07-30 20:53:22"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000415978"	"00414697"	"1"	"00000"	"03840"	"2022-07-30 20:53:22"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000415979"	"00414698"	"1"	"00000"	"03840"	"2022-07-30 20:53:22"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000415988"	"00414707"	"1"	"00000"	"03840"	"2022-08-02 11:53:36"	""	""	"SEQ"	"DNA"	"blood"	""
"0000415989"	"00414708"	"1"	"00000"	"03840"	"2022-08-02 12:06:17"	""	""	"?"	"DNA"	""	"in vitro studies"
"0000415990"	"00414709"	"1"	"00000"	"03840"	"2022-08-02 13:44:15"	""	""	"SEQ"	"DNA"	""	""
"0000415991"	"00414710"	"1"	"00000"	"03840"	"2022-08-02 13:44:15"	""	""	"SEQ"	"DNA"	""	""
"0000415992"	"00414711"	"1"	"00000"	"03840"	"2022-08-02 13:44:15"	""	""	"SEQ"	"DNA"	""	""
"0000415993"	"00414712"	"1"	"00000"	"03840"	"2022-08-02 14:02:01"	""	""	"SEQ"	"DNA"	""	""
"0000415994"	"00414713"	"1"	"00000"	"03840"	"2022-08-02 14:02:01"	""	""	"SEQ"	"DNA"	""	""
"0000415995"	"00414714"	"1"	"00000"	"03840"	"2022-08-02 14:02:01"	""	""	"SEQ"	"DNA"	""	""
"0000415996"	"00414715"	"1"	"00000"	"03840"	"2022-08-02 14:02:01"	""	""	"SEQ"	"DNA"	""	""
"0000415997"	"00414716"	"1"	"00000"	"03840"	"2022-08-02 14:27:48"	""	""	"SEQ"	"DNA"	""	""
"0000415998"	"00414717"	"1"	"00000"	"03840"	"2022-08-02 14:27:48"	""	""	"SEQ"	"DNA"	""	""
"0000415999"	"00414718"	"1"	"00000"	"03840"	"2022-08-02 14:27:48"	""	""	"SEQ"	"DNA"	""	""
"0000416000"	"00414719"	"1"	"00000"	"03840"	"2022-08-02 14:27:48"	""	""	"SEQ"	"DNA"	""	""
"0000416001"	"00414720"	"1"	"00000"	"03840"	"2022-08-02 14:27:48"	""	""	"SEQ"	"DNA"	""	""
"0000416002"	"00414721"	"1"	"00000"	"03840"	"2022-08-02 14:27:48"	""	""	"SEQ"	"DNA"	""	""
"0000416003"	"00414722"	"1"	"00000"	"03840"	"2022-08-02 14:27:48"	""	""	"SEQ"	"DNA"	""	""
"0000416004"	"00414723"	"1"	"00000"	"03840"	"2022-08-02 14:27:48"	""	""	"SEQ"	"DNA"	""	""
"0000416005"	"00414724"	"1"	"00000"	"03840"	"2022-08-02 14:27:48"	""	""	"SEQ"	"DNA"	""	""
"0000416006"	"00414725"	"1"	"00000"	"03840"	"2022-08-02 19:44:59"	""	""	"RFLP"	"DNA"	"blood"	""
"0000416007"	"00414726"	"1"	"00000"	"03840"	"2022-08-02 19:44:59"	""	""	"RFLP"	"DNA"	"blood"	""
"0000416008"	"00414727"	"1"	"00000"	"03840"	"2022-08-02 19:44:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416009"	"00414728"	"1"	"00000"	"03840"	"2022-08-02 19:44:59"	""	""	"RFLP"	"DNA"	"blood"	""
"0000416010"	"00414729"	"1"	"00000"	"03840"	"2022-08-02 19:44:59"	""	""	"RFLP"	"DNA"	"blood"	""
"0000416011"	"00414730"	"1"	"00000"	"03840"	"2022-08-02 19:44:59"	""	""	"RFLP"	"DNA"	"blood"	""
"0000416012"	"00414731"	"1"	"00000"	"03840"	"2022-08-02 19:44:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416013"	"00414732"	"1"	"00000"	"03840"	"2022-08-02 19:44:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416014"	"00414733"	"1"	"00000"	"03840"	"2022-08-02 19:44:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416015"	"00414734"	"1"	"00000"	"03840"	"2022-08-02 19:44:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416328"	"00415047"	"1"	"00000"	"03840"	"2022-08-06 12:23:08"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000416329"	"00415048"	"1"	"00000"	"03840"	"2022-08-06 12:23:08"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000416330"	"00415049"	"1"	"00000"	"03840"	"2022-08-06 12:23:08"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000416331"	"00415050"	"1"	"00000"	"03840"	"2022-08-06 12:23:08"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000416332"	"00415051"	"1"	"00000"	"03840"	"2022-08-06 12:23:08"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000416333"	"00415052"	"1"	"00000"	"03840"	"2022-08-06 12:23:08"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416334"	"00415053"	"1"	"00000"	"03840"	"2022-08-06 12:23:08"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416335"	"00415054"	"1"	"00000"	"03840"	"2022-08-06 12:23:08"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416337"	"00415056"	"1"	"00000"	"03840"	"2022-08-06 21:06:02"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416338"	"00415057"	"1"	"00000"	"03840"	"2022-08-06 21:06:02"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416339"	"00415058"	"1"	"00000"	"03840"	"2022-08-06 21:06:02"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416340"	"00415059"	"1"	"00000"	"03840"	"2022-08-06 21:06:02"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416359"	"00415078"	"1"	"00000"	"03840"	"2022-08-07 13:08:05"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416360"	"00415079"	"1"	"00000"	"03840"	"2022-08-07 13:08:05"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416361"	"00415080"	"1"	"00000"	"03840"	"2022-08-07 13:08:05"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416369"	"00415088"	"1"	"00000"	"03840"	"2022-08-08 11:39:32"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416370"	"00415089"	"1"	"00000"	"03840"	"2022-08-08 11:39:32"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416371"	"00415090"	"1"	"00000"	"03840"	"2022-08-08 11:39:32"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416372"	"00415091"	"1"	"00000"	"03840"	"2022-08-08 11:39:32"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416373"	"00415092"	"1"	"00000"	"03840"	"2022-08-08 11:39:32"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416374"	"00415093"	"1"	"00000"	"03840"	"2022-08-08 11:39:32"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416379"	"00415098"	"1"	"00000"	"03840"	"2022-08-08 12:09:43"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416380"	"00415099"	"1"	"00000"	"03840"	"2022-08-08 12:09:43"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416381"	"00415100"	"1"	"00000"	"03840"	"2022-08-08 12:09:43"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416382"	"00415101"	"1"	"00000"	"03840"	"2022-08-08 12:09:43"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416383"	"00415102"	"1"	"00000"	"03840"	"2022-08-08 12:09:43"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416384"	"00415103"	"1"	"00000"	"03840"	"2022-08-08 12:09:43"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416385"	"00415104"	"1"	"00000"	"03840"	"2022-08-08 12:09:43"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416386"	"00415105"	"1"	"00000"	"03840"	"2022-08-08 12:09:43"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416387"	"00415106"	"1"	"00000"	"03840"	"2022-08-08 12:09:43"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416388"	"00415107"	"1"	"00000"	"03840"	"2022-08-08 12:09:43"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416389"	"00415108"	"1"	"00000"	"03840"	"2022-08-08 12:09:43"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416392"	"00415111"	"1"	"00000"	"03840"	"2022-08-08 12:38:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416393"	"00415112"	"1"	"00000"	"03840"	"2022-08-08 12:38:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416394"	"00415113"	"1"	"00000"	"03840"	"2022-08-08 14:02:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416395"	"00415114"	"1"	"00000"	"03840"	"2022-08-08 14:02:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416396"	"00415115"	"1"	"00000"	"03840"	"2022-08-08 14:02:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416397"	"00415116"	"1"	"00000"	"03840"	"2022-08-08 14:02:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416398"	"00415117"	"1"	"00000"	"03840"	"2022-08-08 14:02:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416399"	"00415118"	"1"	"00000"	"03840"	"2022-08-08 14:02:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416400"	"00415119"	"1"	"00000"	"03840"	"2022-08-08 14:02:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416401"	"00415120"	"1"	"00000"	"03840"	"2022-08-08 14:17:16"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416402"	"00415121"	"1"	"00000"	"03840"	"2022-08-08 14:17:16"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416403"	"00415122"	"1"	"00000"	"03840"	"2022-08-08 14:48:41"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416404"	"00415123"	"1"	"00000"	"03840"	"2022-08-08 15:18:34"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416405"	"00415124"	"1"	"00000"	"03840"	"2022-08-08 15:41:39"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416416"	"00415135"	"1"	"00000"	"03840"	"2022-08-08 16:15:04"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416436"	"00415155"	"1"	"00000"	"03840"	"2022-08-08 16:15:04"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416450"	"00415169"	"1"	"00000"	"03840"	"2022-08-09 11:23:44"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416451"	"00415170"	"1"	"00000"	"03840"	"2022-08-09 11:23:44"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416453"	"00415172"	"1"	"00000"	"03840"	"2022-08-09 12:18:36"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416454"	"00415173"	"1"	"00000"	"03840"	"2022-08-09 12:18:36"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416457"	"00415176"	"1"	"00000"	"03840"	"2022-08-09 12:54:22"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416459"	"00415177"	"1"	"00000"	"03840"	"2022-08-09 13:37:02"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416460"	"00415178"	"1"	"00000"	"03840"	"2022-08-09 13:37:02"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416461"	"00415179"	"1"	"00000"	"03840"	"2022-08-09 13:37:02"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416462"	"00415180"	"1"	"00000"	"03840"	"2022-08-09 13:37:02"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416463"	"00415181"	"1"	"00000"	"03840"	"2022-08-09 14:23:32"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416464"	"00415182"	"1"	"00000"	"03840"	"2022-08-09 14:23:32"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416465"	"00415183"	"1"	"00000"	"03840"	"2022-08-09 14:23:32"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416475"	"00415193"	"1"	"00000"	"03840"	"2022-08-09 21:02:14"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000416476"	"00415194"	"1"	"00000"	"03840"	"2022-08-09 21:02:14"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000416482"	"00415200"	"1"	"00000"	"03840"	"2022-08-10 10:11:10"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	"clinical exome"
"0000416483"	"00415201"	"1"	"00000"	"03840"	"2022-08-10 10:11:10"	""	""	"SEQ"	"DNA"	"blood"	"clinical exome"
"0000416484"	"00415202"	"1"	"00000"	"03840"	"2022-08-10 10:11:10"	""	""	"SEQ"	"DNA"	"blood"	"clinical exome"
"0000416490"	"00415208"	"1"	"00000"	"03840"	"2022-08-10 11:20:22"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	"whole exome sequencing of trios"
"0000416494"	"00415212"	"1"	"00000"	"03840"	"2022-08-10 11:20:22"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	"whole exome sequencing of trios"
"0000416496"	"00415214"	"1"	"00000"	"03840"	"2022-08-10 11:20:22"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	"whole exome sequencing of trios"
"0000422232"	"00420921"	"1"	"00000"	"03840"	"2022-11-03 12:57:28"	""	""	"SEQ"	"DNA"	""	""
"0000422233"	"00420922"	"1"	"00000"	"03840"	"2022-11-03 12:57:28"	""	""	"SEQ"	"DNA"	""	""
"0000422234"	"00420923"	"1"	"00000"	"03840"	"2022-11-03 12:57:28"	""	""	"SEQ"	"DNA"	""	""
"0000422236"	"00420925"	"1"	"00000"	"03840"	"2022-11-03 13:47:12"	""	""	"SEQ"	"DNA"	""	""
"0000422237"	"00420926"	"1"	"00000"	"03840"	"2022-11-03 13:47:12"	""	""	"SEQ"	"DNA"	""	""
"0000422238"	"00420927"	"1"	"00000"	"03840"	"2022-11-03 13:47:12"	""	""	"SEQ"	"DNA"	""	""
"0000422239"	"00420928"	"1"	"00000"	"03840"	"2022-11-03 13:47:12"	""	""	"SEQ"	"DNA"	""	""
"0000422240"	"00420929"	"1"	"00000"	"03840"	"2022-11-03 13:47:12"	""	""	"SEQ"	"DNA"	""	""
"0000422241"	"00420930"	"1"	"00000"	"03840"	"2022-11-03 13:47:12"	""	""	"SEQ"	"DNA"	""	""
"0000422242"	"00420931"	"1"	"00000"	"03840"	"2022-11-03 13:47:12"	""	""	"SEQ"	"DNA"	""	""
"0000422243"	"00420932"	"1"	"00000"	"03840"	"2022-11-03 13:47:12"	""	""	"SEQ"	"DNA"	""	""
"0000422244"	"00420933"	"1"	"00000"	"03840"	"2022-11-03 13:47:12"	""	""	"SEQ"	"DNA"	""	""
"0000422245"	"00420934"	"1"	"00000"	"03840"	"2022-11-03 13:47:12"	""	""	"SEQ"	"DNA"	""	""
"0000422246"	"00420935"	"1"	"00000"	"03840"	"2022-11-03 13:47:12"	""	""	"SEQ"	"DNA"	""	""
"0000422247"	"00420936"	"1"	"00000"	"03840"	"2022-11-03 13:47:12"	""	""	"SEQ"	"DNA"	""	""
"0000422248"	"00420937"	"1"	"00000"	"03840"	"2022-11-03 13:47:12"	""	""	"SEQ"	"DNA"	""	""
"0000422249"	"00420938"	"1"	"00000"	"03840"	"2022-11-03 13:47:12"	""	""	"SEQ"	"DNA"	""	""
"0000422250"	"00420939"	"1"	"00000"	"03840"	"2022-11-03 13:47:12"	""	""	"SEQ"	"DNA"	""	""
"0000422251"	"00420940"	"1"	"00000"	"03840"	"2022-11-03 13:47:12"	""	""	"SEQ"	"DNA"	""	""
"0000422252"	"00420941"	"1"	"00000"	"03840"	"2022-11-03 13:47:12"	""	""	"SEQ"	"DNA"	""	""
"0000422253"	"00420942"	"1"	"00000"	"03840"	"2022-11-03 13:47:12"	""	""	"SEQ"	"DNA"	""	""
"0000422254"	"00420943"	"1"	"00000"	"03840"	"2022-11-03 13:47:12"	""	""	"SEQ"	"DNA"	""	""
"0000422255"	"00420944"	"1"	"00000"	"03840"	"2022-11-03 13:47:12"	""	""	"SEQ"	"DNA"	""	""
"0000422256"	"00420945"	"1"	"00000"	"03840"	"2022-11-03 13:47:12"	""	""	"SEQ"	"DNA"	""	""
"0000422257"	"00420946"	"1"	"00000"	"03840"	"2022-11-03 13:47:12"	""	""	"SEQ"	"DNA"	""	""
"0000422258"	"00420947"	"1"	"00000"	"03840"	"2022-11-03 13:47:12"	""	""	"SEQ"	"DNA"	""	""
"0000422260"	"00420949"	"1"	"00000"	"03840"	"2022-11-03 14:39:05"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"whole genome sequencing"
"0000422261"	"00420950"	"1"	"00000"	"03840"	"2022-11-03 14:39:05"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"whole genome sequencing"
"0000422262"	"00420951"	"1"	"00000"	"03840"	"2022-11-03 14:39:05"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"whole genome sequencing"
"0000422263"	"00420952"	"1"	"00000"	"03840"	"2022-11-03 14:39:05"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"whole genome sequencing"
"0000422264"	"00420953"	"1"	"00000"	"03840"	"2022-11-03 14:39:05"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"whole genome sequencing"
"0000422265"	"00420954"	"1"	"00000"	"03840"	"2022-11-03 14:39:05"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"whole genome sequencing"
"0000427973"	"00426653"	"1"	"00000"	"03840"	"2022-12-02 12:57:25"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000427974"	"00426654"	"1"	"00000"	"03840"	"2022-12-02 12:57:25"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000427975"	"00426655"	"1"	"00000"	"03840"	"2022-12-02 12:57:25"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000448510"	"00446933"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448511"	"00446934"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448534"	"00446957"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448859"	"00447282"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 204
"{{screeningid}}"	"{{geneid}}"
"0000325718"	"POC1B"
"0000329265"	"MFRP"
"0000329293"	"C1QTNF5"
"0000333264"	"C1QTNF5"
"0000335803"	"C1QTNF5"
"0000335803"	"RPGR"
"0000337189"	"C1QTNF5"
"0000373293"	"C1QTNF5"
"0000373752"	"BBS2"
"0000378692"	"C1QTNF5"
"0000378693"	"C1QTNF5"
"0000378694"	"C1QTNF5"
"0000378695"	"C1QTNF5"
"0000385554"	"C1QTNF5"
"0000387389"	"C1QTNF5"
"0000387390"	"C1QTNF5"
"0000387391"	"C1QTNF5"
"0000387392"	"C1QTNF5"
"0000387476"	"USH2A"
"0000391418"	"C1QTNF5"
"0000391547"	"MFRP"
"0000415900"	"C1QTNF5"
"0000415901"	"C1QTNF5"
"0000415902"	"C1QTNF5"
"0000415903"	"C1QTNF5"
"0000415904"	"C1QTNF5"
"0000415905"	"C1QTNF5"
"0000415906"	"C1QTNF5"
"0000415907"	"C1QTNF5"
"0000415908"	"C1QTNF5"
"0000415909"	"C1QTNF5"
"0000415910"	"C1QTNF5"
"0000415911"	"C1QTNF5"
"0000415912"	"C1QTNF5"
"0000415913"	"C1QTNF5"
"0000415914"	"C1QTNF5"
"0000415915"	"C1QTNF5"
"0000415916"	"C1QTNF5"
"0000415917"	"C1QTNF5"
"0000415918"	"C1QTNF5"
"0000415919"	"C1QTNF5"
"0000415920"	"C1QTNF5"
"0000415921"	"C1QTNF5"
"0000415922"	"C1QTNF5"
"0000415923"	"C1QTNF5"
"0000415952"	"C1QTNF5"
"0000415953"	"C1QTNF5"
"0000415954"	"C1QTNF5"
"0000415955"	"C1QTNF5"
"0000415956"	"C1QTNF5"
"0000415957"	"C1QTNF5"
"0000415958"	"C1QTNF5"
"0000415959"	"C1QTNF5"
"0000415960"	"C1QTNF5"
"0000415961"	"C1QTNF5"
"0000415962"	"C1QTNF5"
"0000415963"	"C1QTNF5"
"0000415964"	"C1QTNF5"
"0000415965"	"C1QTNF5"
"0000415966"	"C1QTNF5"
"0000415967"	"C1QTNF5"
"0000415968"	"C1QTNF5"
"0000415969"	"C1QTNF5"
"0000415970"	"C1QTNF5"
"0000415971"	"C1QTNF5"
"0000415972"	"C1QTNF5"
"0000415973"	"C1QTNF5"
"0000415974"	"C1QTNF5"
"0000415975"	"C1QTNF5"
"0000415976"	"C1QTNF5"
"0000415977"	"C1QTNF5"
"0000415978"	"C1QTNF5"
"0000415979"	"C1QTNF5"
"0000415988"	"C1QTNF5"
"0000415989"	"C1QTNF5"
"0000415990"	"C1QTNF5"
"0000415991"	"C1QTNF5"
"0000415992"	"C1QTNF5"
"0000415993"	"C1QTNF5"
"0000415994"	"C1QTNF5"
"0000415995"	"C1QTNF5"
"0000415996"	"C1QTNF5"
"0000415997"	"C1QTNF5"
"0000415998"	"C1QTNF5"
"0000415999"	"C1QTNF5"
"0000416000"	"C1QTNF5"
"0000416001"	"C1QTNF5"
"0000416002"	"C1QTNF5"
"0000416003"	"C1QTNF5"
"0000416004"	"C1QTNF5"
"0000416005"	"C1QTNF5"
"0000416006"	"C1QTNF5"
"0000416007"	"C1QTNF5"
"0000416008"	"C1QTNF5"
"0000416009"	"C1QTNF5"
"0000416010"	"C1QTNF5"
"0000416011"	"C1QTNF5"
"0000416012"	"C1QTNF5"
"0000416013"	"C1QTNF5"
"0000416014"	"C1QTNF5"
"0000416015"	"C1QTNF5"
"0000416328"	"MFRP"
"0000416329"	"MFRP"
"0000416330"	"MFRP"
"0000416331"	"MFRP"
"0000416332"	"MFRP"
"0000416333"	"MFRP"
"0000416334"	"MFRP"
"0000416335"	"MFRP"
"0000416337"	"MFRP"
"0000416338"	"MFRP"
"0000416339"	"MFRP"
"0000416340"	"MFRP"
"0000416359"	"MFRP"
"0000416360"	"MFRP"
"0000416361"	"MFRP"
"0000416369"	"MFRP"
"0000416370"	"MFRP"
"0000416371"	"MFRP"
"0000416372"	"MFRP"
"0000416373"	"MFRP"
"0000416374"	"MFRP"
"0000416379"	"MFRP"
"0000416380"	"MFRP"
"0000416381"	"MFRP"
"0000416382"	"MFRP"
"0000416383"	"MFRP"
"0000416384"	"MFRP"
"0000416385"	"MFRP"
"0000416386"	"MFRP"
"0000416387"	"MFRP"
"0000416388"	"MFRP"
"0000416389"	"MFRP"
"0000416392"	"MFRP"
"0000416393"	"MFRP"
"0000416394"	"MFRP"
"0000416395"	"MFRP"
"0000416396"	"MFRP"
"0000416397"	"MFRP"
"0000416398"	"MFRP"
"0000416399"	"MFRP"
"0000416400"	"MFRP"
"0000416401"	"MFRP"
"0000416402"	"MFRP"
"0000416403"	"MFRP"
"0000416404"	"MFRP"
"0000416405"	"MFRP"
"0000416416"	"MFRP"
"0000416436"	"MFRP"
"0000416450"	"MFRP"
"0000416451"	"KCNV2"
"0000416453"	"MFRP"
"0000416454"	"MFRP"
"0000416457"	"MFRP"
"0000416459"	"MFRP"
"0000416460"	"MFRP"
"0000416461"	"MFRP"
"0000416462"	"MFRP"
"0000416463"	"MFRP"
"0000416464"	"MFRP"
"0000416465"	"MFRP"
"0000416475"	"MFRP"
"0000416476"	"MFRP"
"0000416482"	"MFRP"
"0000416483"	"MFRP"
"0000416484"	"MFRP"
"0000416490"	"MFRP"
"0000416494"	"MFRP"
"0000416496"	"MFRP"
"0000422232"	"C1QTNF5"
"0000422233"	"C1QTNF5"
"0000422234"	"C1QTNF5"
"0000422236"	"C1QTNF5"
"0000422237"	"C1QTNF5"
"0000422238"	"C1QTNF5"
"0000422239"	"C1QTNF5"
"0000422240"	"C1QTNF5"
"0000422241"	"C1QTNF5"
"0000422242"	"C1QTNF5"
"0000422243"	"C1QTNF5"
"0000422244"	"C1QTNF5"
"0000422245"	"C1QTNF5"
"0000422246"	"C1QTNF5"
"0000422247"	"C1QTNF5"
"0000422248"	"C1QTNF5"
"0000422249"	"C1QTNF5"
"0000422250"	"C1QTNF5"
"0000422251"	"C1QTNF5"
"0000422252"	"C1QTNF5"
"0000422253"	"C1QTNF5"
"0000422254"	"C1QTNF5"
"0000422255"	"C1QTNF5"
"0000422256"	"C1QTNF5"
"0000422257"	"C1QTNF5"
"0000422258"	"C1QTNF5"
"0000422260"	"C1QTNF5"
"0000422261"	"C1QTNF5"
"0000422262"	"C1QTNF5"
"0000422263"	"C1QTNF5"
"0000422264"	"C1QTNF5"
"0000422265"	"C1QTNF5"
"0000427973"	"C1QTNF5"
"0000427974"	"C1QTNF5"
"0000427975"	"C1QTNF5"


## 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 = 322
"{{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}}"
"0000246996"	"0"	"10"	"11"	"119217067"	"119217067"	"subst"	"0.000768289"	"02330"	"C1QTNF5_000025"	"g.119217067A>G"	""	""	""	"C1QTNF5(NM_015645.5):c.-2565T>C, MFRP(NM_031433.4):c.72T>C (p.P24=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119346357A>G"	""	"benign"	""
"0000247017"	"0"	"10"	"11"	"119216999"	"119216999"	"subst"	"4.13918E-6"	"02330"	"C1QTNF5_000024"	"g.119216999A>G"	""	""	""	"C1QTNF5(NM_015645.5):c.-2497T>C, MFRP(NM_031433.4):c.140T>C (p.V47A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119346289A>G"	""	"benign"	""
"0000247021"	"0"	"10"	"11"	"119215007"	"119215007"	"subst"	"0.00684347"	"02330"	"C1QTNF5_000012"	"g.119215007A>G"	""	""	""	"C1QTNF5(NM_015645.5):c.-1662+18T>C, MFRP(NM_031433.4):c.975+18T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119344297A>G"	""	"benign"	""
"0000248633"	"0"	"10"	"11"	"119216231"	"119216231"	"subst"	"0.932135"	"02325"	"C1QTNF5_000019"	"g.119216231A>G"	""	""	""	"C1QTNF5(NM_015645.5):c.-2097T>C, MFRP(NM_031433.4):c.540T>C (p.H180=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119345521A>G"	""	"benign"	""
"0000263831"	"0"	"10"	"11"	"119212363"	"119212363"	"subst"	"0.00600289"	"02330"	"C1QTNF5_000004"	"g.119212363C>T"	""	""	""	"C1QTNF5(NM_015645.5):c.-1002G>A, MFRP(NM_031433.3):c.1635G>A (p.A545=), MFRP(NM_031433.4):c.1635G>A (p.A545=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119341653C>T"	""	"benign"	""
"0000263832"	"0"	"10"	"11"	"119212575"	"119212575"	"subst"	"3.28628E-5"	"02330"	"C1QTNF5_000006"	"g.119212575C>T"	""	""	""	"C1QTNF5(NM_015645.5):c.-1130G>A, MFRP(NM_031433.4):c.1507G>A (p.G503S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119341865C>T"	""	"benign"	""
"0000263833"	"0"	"30"	"11"	"119213441"	"119213441"	"subst"	"0.000267325"	"02330"	"C1QTNF5_000009"	"g.119213441C>T"	""	""	""	"C1QTNF5(NM_015645.4):c.-1381-4G>A, C1QTNF5(NM_015645.5):c.-1381-4G>A, MFRP(NM_031433.3):c.1256-4G>A, MFRP(NM_031433.4):c.1256-4G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119342731C>T"	""	"likely benign"	""
"0000263834"	"0"	"50"	"11"	"119214636"	"119214636"	"subst"	"0.00100585"	"02330"	"C1QTNF5_000011"	"g.119214636G>T"	""	""	""	"C1QTNF5(NM_015645.5):c.-1623C>A, MFRP(NM_031433.3):c.1014C>A (p.S338R), MFRP(NM_031433.4):c.1014C>A (p.S338R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119343926G>T"	""	"VUS"	""
"0000263835"	"0"	"10"	"11"	"119215476"	"119215476"	"subst"	"0.00296403"	"02330"	"C1QTNF5_000014"	"g.119215476G>A"	""	""	""	"C1QTNF5(NM_015645.4):c.-1864-9C>T, C1QTNF5(NM_015645.5):c.-1864-9C>T, MFRP(NM_031433.3):c.773-9C>T, MFRP(NM_031433.4):c.773-9C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119344766G>A"	""	"benign"	""
"0000263836"	"0"	"10"	"11"	"119216832"	"119216832"	"subst"	"0.00127856"	"02330"	"C1QTNF5_000023"	"g.119216832G>A"	""	""	""	"C1QTNF5(NM_015645.5):c.-2442C>T, MFRP(NM_031433.3):c.195C>T (p.F65=), MFRP(NM_031433.4):c.195C>T (p.F65=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119346122G>A"	""	"benign"	""
"0000266359"	"0"	"10"	"11"	"119216504"	"119216504"	"subst"	"0.265596"	"02325"	"C1QTNF5_000022"	"g.119216504C>T"	""	""	""	"C1QTNF5(NM_015645.5):c.-2231G>A, MFRP(NM_031433.4):c.406G>A (p.V136M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119345794C>T"	""	"benign"	""
"0000272256"	"0"	"30"	"11"	"119213723"	"119213723"	"subst"	"0"	"01943"	"C1QTNF5_000010"	"g.119213723G>A"	""	""	""	"C1QTNF5(NM_015645.4):c.-1512-10C>T, MFRP(NM_031433.3):c.1125-10C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119343013G>A"	""	"likely benign"	""
"0000272257"	"0"	"30"	"11"	"119215476"	"119215476"	"subst"	"0.00296403"	"01943"	"C1QTNF5_000014"	"g.119215476G>A"	""	""	""	"C1QTNF5(NM_015645.4):c.-1864-9C>T, C1QTNF5(NM_015645.5):c.-1864-9C>T, MFRP(NM_031433.3):c.773-9C>T, MFRP(NM_031433.4):c.773-9C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119344766G>A"	""	"likely benign"	""
"0000272258"	"0"	"70"	"11"	"119215716"	"119215716"	"subst"	"0.000121425"	"01943"	"C1QTNF5_000015"	"g.119215716T>C"	""	""	""	"C1QTNF5(NM_015645.4):c.-1995-2A>G, MFRP(NM_031433.3):c.642-2A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119345006T>C"	""	"likely pathogenic"	""
"0000272259"	"0"	"30"	"11"	"119216121"	"119216121"	"subst"	"0.00390307"	"01943"	"C1QTNF5_000016"	"g.119216121G>A"	""	""	""	"C1QTNF5(NM_015645.4):c.-1996+9C>T, C1QTNF5(NM_015645.5):c.-1996+9C>T, MFRP(NM_031433.3):c.641+9C>T, MFRP(NM_031433.4):c.641+9C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119345411G>A"	""	"likely benign"	""
"0000279741"	"0"	"30"	"11"	"119210432"	"119210432"	"subst"	"0.000502251"	"02330"	"C1QTNF5_000002"	"g.119210432C>T"	""	""	""	"C1QTNF5(NM_015645.5):c.341G>A (p.R114Q), MFRP(NM_031433.4):c.*1237G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119339722C>T"	""	"likely benign"	""
"0000279742"	"0"	"10"	"11"	"119210402"	"119210402"	"subst"	"8.39934E-6"	"02330"	"C1QTNF5_000001"	"g.119210402G>A"	""	""	""	"MFRP(NM_031433.4):c.*1267C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119339692G>A"	""	"benign"	""
"0000279748"	"0"	"10"	"11"	"119216286"	"119216286"	"subst"	"0"	"02330"	"C1QTNF5_000021"	"g.119216286T>C"	""	""	""	"MFRP(NM_031433.4):c.485A>G (p.D162G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119345576T>C"	""	"benign"	""
"0000291769"	"0"	"10"	"11"	"119213319"	"119213319"	"subst"	"0.00824805"	"01943"	"C1QTNF5_000008"	"g.119213319C>A"	""	""	""	"MFRP(NM_031433.3):c.1374G>T (p.L458F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119342609C>A"	""	"benign"	""
"0000291770"	"0"	"30"	"11"	"119212624"	"119212624"	"subst"	"0.000110883"	"01943"	"C1QTNF5_000007"	"g.119212624G>A"	""	""	""	"MFRP(NM_031433.3):c.1458C>T (p.N486=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119341914G>A"	""	"likely benign"	""
"0000291771"	"0"	"30"	"11"	"119212363"	"119212363"	"subst"	"0.00600289"	"01943"	"C1QTNF5_000004"	"g.119212363C>T"	""	""	""	"C1QTNF5(NM_015645.5):c.-1002G>A, MFRP(NM_031433.3):c.1635G>A (p.A545=), MFRP(NM_031433.4):c.1635G>A (p.A545=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119341653C>T"	""	"likely benign"	""
"0000291772"	"0"	"30"	"11"	"119216228"	"119216228"	"subst"	"0"	"01943"	"C1QTNF5_000018"	"g.119216228T>G"	""	""	""	"MFRP(NM_031433.3):c.543A>C (p.A181=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119345518T>G"	""	"likely benign"	""
"0000291773"	"0"	"30"	"11"	"119216142"	"119216142"	"subst"	"0.00382695"	"01943"	"C1QTNF5_000017"	"g.119216142C>A"	""	""	""	"MFRP(NM_031433.3):c.629G>T (p.G210V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119345432C>A"	""	"likely benign"	""
"0000291777"	"0"	"30"	"11"	"119215041"	"119215041"	"subst"	"4.10536E-6"	"01943"	"C1QTNF5_000013"	"g.119215041T>G"	""	""	""	"MFRP(NM_031433.3):c.959A>C (p.Q320P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119344331T>G"	""	"likely benign"	""
"0000337039"	"0"	"10"	"11"	"119213303"	"119213303"	"subst"	"0.163329"	"02327"	"C1QTNF5_000027"	"g.119213303C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119342593C>T"	""	"benign"	""
"0000337040"	"0"	"10"	"11"	"119217254"	"119217254"	"subst"	"0.592224"	"02327"	"C1QTNF5_000030"	"g.119217254C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119346544C>T"	""	"benign"	""
"0000337041"	"0"	"10"	"11"	"119217311"	"119217311"	"subst"	"0"	"02327"	"C1QTNF5_000031"	"g.119217311G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119346601G>A"	""	"benign"	""
"0000340804"	"0"	"10"	"11"	"119216231"	"119216231"	"subst"	"0.932135"	"02327"	"C1QTNF5_000019"	"g.119216231A>G"	""	""	""	"C1QTNF5(NM_015645.5):c.-2097T>C, MFRP(NM_031433.4):c.540T>C (p.H180=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119345521A>G"	""	"benign"	""
"0000340849"	"0"	"10"	"11"	"119215046"	"119215046"	"subst"	"0.0548265"	"02327"	"C1QTNF5_000028"	"g.119215046C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119344336C>T"	""	"benign"	""
"0000343075"	"0"	"70"	"11"	"119212383"	"119212383"	"subst"	"8.65137E-5"	"02327"	"C1QTNF5_000005"	"g.119212383G>A"	""	""	""	"MFRP(NM_031433.4):c.1615C>T (p.(Arg539Cys), p.R539C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119341673G>A"	""	"likely pathogenic"	""
"0000343076"	"0"	"50"	"11"	"119212382"	"119212382"	"subst"	"0"	"02327"	"C1QTNF5_000026"	"g.119212382C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119341672C>A"	""	"VUS"	""
"0000344342"	"0"	"90"	"11"	"119215385"	"119215385"	"subst"	"4.10492E-6"	"02327"	"C1QTNF5_000029"	"g.119215385A>T"	""	""	""	"MFRP(NM_031433.4):c.855T>A (p.(Cys285Ter))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119344675A>T"	""	"pathogenic"	""
"0000350283"	"0"	"10"	"11"	"119216504"	"119216504"	"subst"	"0.265596"	"02327"	"C1QTNF5_000022"	"g.119216504C>T"	""	""	""	"C1QTNF5(NM_015645.5):c.-2231G>A, MFRP(NM_031433.4):c.406G>A (p.V136M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119345794C>T"	""	"benign"	""
"0000542688"	"0"	"30"	"11"	"119210206"	"119210206"	"subst"	"3.69607E-5"	"02330"	"RNF26_000001"	"g.119210206G>A"	""	""	""	"C1QTNF5(NM_015645.5):c.567C>T (p.A189=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.119339496G>A"	""	"likely benign"	""
"0000542689"	"0"	"90"	"11"	"119210284"	"119210284"	"subst"	"0"	"02330"	"RNF26_000002"	"g.119210284G>T"	""	""	""	"C1QTNF5(NM_015645.5):c.489C>A (p.S163R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.119339574G>T"	""	"pathogenic"	""
"0000542690"	"0"	"30"	"11"	"119210562"	"119210562"	"subst"	"0"	"01804"	"RNF26_000003"	"g.119210562C>G"	""	""	""	"C1QTNF5(NM_001278431.1):c.215-4G>C (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.119339852C>G"	""	"likely benign"	""
"0000542691"	"0"	"50"	"11"	"119211032"	"119211032"	"subst"	"4.55941E-5"	"02330"	"RNF26_000004"	"g.119211032T>C"	""	""	""	"C1QTNF5(NM_015645.5):c.76A>G (p.S26G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.119340322T>C"	""	"VUS"	""
"0000542692"	"0"	"50"	"11"	"119211037"	"119211037"	"subst"	"4.56524E-5"	"02330"	"RNF26_000005"	"g.119211037A>G"	""	""	""	"C1QTNF5(NM_015645.5):c.71T>C (p.I24T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.119340327A>G"	""	"VUS"	""
"0000542694"	"0"	"30"	"11"	"119213348"	"119213348"	"subst"	"0.000416083"	"01943"	"C1QTNF5_000032"	"g.119213348C>T"	""	""	""	"MFRP(NM_031433.3):c.1345G>A (p.G449S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.119342638C>T"	""	"likely benign"	""
"0000542695"	"0"	"30"	"11"	"119215029"	"119215029"	"subst"	"9.85294E-5"	"01943"	"C1QTNF5_000033"	"g.119215029T>C"	""	""	""	"MFRP(NM_031433.3):c.971A>G (p.Q324R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.119344319T>C"	""	"likely benign"	""
"0000542696"	"0"	"10"	"11"	"119216121"	"119216121"	"subst"	"0.00390307"	"02330"	"C1QTNF5_000016"	"g.119216121G>A"	""	""	""	"C1QTNF5(NM_015645.4):c.-1996+9C>T, C1QTNF5(NM_015645.5):c.-1996+9C>T, MFRP(NM_031433.3):c.641+9C>T, MFRP(NM_031433.4):c.641+9C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.119345411G>A"	""	"benign"	""
"0000542697"	"0"	"50"	"11"	"119216170"	"119216170"	"subst"	"5.33631E-5"	"01943"	"C1QTNF5_000034"	"g.119216170G>A"	""	""	""	"MFRP(NM_031433.3):c.601C>T (p.R201C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.119345460G>A"	""	"VUS"	""
"0000542698"	"0"	"30"	"11"	"119216275"	"119216275"	"subst"	"0.000435222"	"02330"	"C1QTNF5_000035"	"g.119216275G>C"	""	""	""	"C1QTNF5(NM_015645.5):c.-2141C>G, MFRP(NM_031433.3):c.496C>G (p.P166A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.119345565G>C"	""	"likely benign"	""
"0000542699"	"0"	"50"	"11"	"119216275"	"119216275"	"subst"	"0.000435222"	"01943"	"C1QTNF5_000035"	"g.119216275G>C"	""	""	""	"C1QTNF5(NM_015645.5):c.-2141C>G, MFRP(NM_031433.3):c.496C>G (p.P166A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.119345565G>C"	""	"VUS"	""
"0000542700"	"0"	"90"	"11"	"119216279"	"119216279"	"del"	"0"	"02327"	"C1QTNF5_000020"	"g.119216279del"	""	""	""	"MFRP(NM_031433.4):c.498del (p.(Asn167ThrfsTer25)), MFRP(NM_031433.4):c.498delC (p.N167Tfs*25)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.119345569del"	""	"pathogenic"	""
"0000542701"	"0"	"50"	"11"	"119216575"	"119216575"	"subst"	"7.82054E-5"	"01943"	"C1QTNF5_000036"	"g.119216575G>A"	""	""	""	"MFRP(NM_031433.3):c.335C>T (p.T112M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.119345865G>A"	""	"VUS"	""
"0000542702"	"0"	"30"	"11"	"119216624"	"119216624"	"subst"	"2.05695E-5"	"02330"	"C1QTNF5_000037"	"g.119216624G>T"	""	""	""	"C1QTNF5(NM_015645.5):c.-2351C>A, MFRP(NM_031433.4):c.286C>A (p.P96T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.119345914G>T"	""	"likely benign"	""
"0000542703"	"0"	"90"	"11"	"119216826"	"119216826"	"subst"	"1.33019E-5"	"02327"	"C1QTNF5_000038"	"g.119216826C>T"	""	""	""	"MFRP(NM_031433.3):c.201G>A (p.W67*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.119346116C>T"	""	"pathogenic"	""
"0000542704"	"0"	"30"	"11"	"119216832"	"119216832"	"subst"	"0.00127856"	"01943"	"C1QTNF5_000023"	"g.119216832G>A"	""	""	""	"C1QTNF5(NM_015645.5):c.-2442C>T, MFRP(NM_031433.3):c.195C>T (p.F65=), MFRP(NM_031433.4):c.195C>T (p.F65=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.119346122G>A"	""	"likely benign"	""
"0000542705"	"0"	"30"	"11"	"119216836"	"119216836"	"subst"	"0.00150635"	"01943"	"C1QTNF5_000039"	"g.119216836C>T"	""	""	""	"MFRP(NM_031433.3):c.191G>A (p.R64H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.119346126C>T"	""	"likely benign"	""
"0000613100"	"0"	"50"	"11"	"119210896"	"119210896"	"subst"	"4.7659E-5"	"02330"	"RNF26_000006"	"g.119210896G>C"	""	""	""	"C1QTNF5(NM_015645.5):c.212C>G (p.P71R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.119340186G>C"	""	"VUS"	""
"0000613101"	"0"	"30"	"11"	"119213286"	"119213286"	"subst"	"5.4666E-5"	"02330"	"C1QTNF5_000042"	"g.119213286C>T"	""	""	""	"C1QTNF5(NM_015645.5):c.-1250+20G>A, MFRP(NM_031433.4):c.1387+20G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.119342576C>T"	""	"likely benign"	""
"0000613102"	"0"	"30"	"11"	"119213441"	"119213441"	"subst"	"0.000267325"	"01943"	"C1QTNF5_000009"	"g.119213441C>T"	""	""	""	"C1QTNF5(NM_015645.4):c.-1381-4G>A, C1QTNF5(NM_015645.5):c.-1381-4G>A, MFRP(NM_031433.3):c.1256-4G>A, MFRP(NM_031433.4):c.1256-4G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.119342731C>T"	""	"likely benign"	""
"0000613103"	"0"	"50"	"11"	"119214636"	"119214636"	"subst"	"0.00100585"	"01943"	"C1QTNF5_000011"	"g.119214636G>T"	""	""	""	"C1QTNF5(NM_015645.5):c.-1623C>A, MFRP(NM_031433.3):c.1014C>A (p.S338R), MFRP(NM_031433.4):c.1014C>A (p.S338R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.119343926G>T"	""	"VUS"	""
"0000613104"	"0"	"30"	"11"	"119215475"	"119215475"	"subst"	"0.000764513"	"02330"	"C1QTNF5_000043"	"g.119215475T>G"	""	""	""	"C1QTNF5(NM_015645.5):c.-1864-8A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.119344765T>G"	""	"likely benign"	""
"0000613105"	"0"	"30"	"11"	"119216835"	"119216835"	"subst"	"0.000501532"	"02330"	"C1QTNF5_000044"	"g.119216835G>C"	""	""	""	"MFRP(NM_031433.4):c.192C>G (p.R64=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.119346125G>C"	""	"likely benign"	""
"0000622576"	"0"	"30"	"11"	"119212501"	"119212501"	"subst"	"0.000267878"	"02330"	"RNF26_000007"	"g.119212501C>T"	""	""	""	"MFRP(NM_031433.4):c.1516-19G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.119341791C>T"	""	"likely benign"	""
"0000648124"	"1"	"50"	"11"	"119216142"	"119216142"	"subst"	"0.00382695"	"03575"	"C1QTNF5_000017"	"g.119216142C>A"	"12/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"conflicting interpretations of pathogenicity; 12 heterozygous, no homozygous; {DB:CLININrs150902999}"	"Germline"	""	"rs150902999"	"0"	""	""	"g.119345432C>A"	""	"VUS"	""
"0000679080"	"0"	"50"	"11"	"119216506"	"119216506"	"subst"	"8.24307E-6"	"01943"	"C1QTNF5_000045"	"g.119216506C>A"	""	""	""	"MFRP(NM_031433.3):c.404G>T (p.G135V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000690964"	"0"	"30"	"11"	"119215111"	"119215111"	"subst"	"1.65627E-5"	"01943"	"C1QTNF5_000046"	"g.119215111G>T"	""	""	""	"C1QTNF5(NM_015645.4):c.-1738-10C>A, MFRP(NM_031433.3):c.899-10C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000690965"	"0"	"30"	"11"	"119215690"	"119215690"	"subst"	"2.19829E-5"	"01943"	"C1QTNF5_000047"	"g.119215690G>T"	""	""	""	"MFRP(NM_031433.3):c.666C>A (p.P222=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000710805"	"0"	"30"	"11"	"119211044"	"119211046"	"del"	"0"	"00006"	"C1QTNF5_000048"	"g.119211044_119211046del"	""	"{PMID:Kominami 2019:31390656}, {PMID:Kominami 2017:29220607}, {DOI:Kominami 2017:10.1080/13816810.2017.1408846}"	""	"66_68del"	""	"Germline"	""	"rs773046530"	"0"	""	""	""	""	"likely benign"	""
"0000713388"	"0"	"90"	"11"	"119215045"	"119215045"	"subst"	"0"	"00000"	"C1QTNF5_000051"	"g.119215045G>A"	""	"{PMID:Carss 2017:28041643}"	""	"11:119215045G>A ENST00000555262.1:c.955C>T (Gln319Ter)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713416"	"0"	"90"	"11"	"119210204"	"119210204"	"subst"	"0"	"00000"	"C1QTNF5_000049"	"g.119210204G>C"	""	"{PMID:Carss 2017:28041643}"	""	"11:119210204G>C ENST00000445041.2:c.569C>G (Ser190Trp)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713763"	"0"	"90"	"11"	"119210217"	"119210217"	"subst"	"0"	"00000"	"C1QTNF5_000050"	"g.119210217G>A"	""	"{PMID:Carss 2017:28041643}"	""	"11:119210217G>A ENST00000445041.2:c.556C>T (Pro186Ser)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000723263"	"0"	"50"	"11"	"119210949"	"119210957"	"del"	"0"	"02330"	"C1QTNF5_000053"	"g.119210949_119210957del"	""	""	""	"C1QTNF5(NM_015645.5):c.163_171delCGCGACGGC (p.R55_G57del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000723264"	"0"	"50"	"11"	"119212305"	"119212305"	"subst"	"0"	"01943"	"C1QTNF5_000054"	"g.119212305T>G"	""	""	""	"MFRP(NM_031433.3):c.1693A>C (p.N565H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000723265"	"0"	"70"	"11"	"119212383"	"119212383"	"subst"	"8.65137E-5"	"02329"	"C1QTNF5_000005"	"g.119212383G>A"	""	""	""	"MFRP(NM_031433.4):c.1615C>T (p.(Arg539Cys), p.R539C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000723266"	"0"	"50"	"11"	"119213688"	"119213688"	"subst"	"8.66822E-6"	"01943"	"C1QTNF5_000055"	"g.119213688G>C"	""	""	""	"MFRP(NM_031433.3):c.1150C>G (p.H384D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000723267"	"0"	"50"	"11"	"119214628"	"119214628"	"subst"	"2.46202E-5"	"01943"	"C1QTNF5_000056"	"g.119214628A>G"	""	""	""	"MFRP(NM_031433.3):c.1022T>C (p.L341P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000723268"	"0"	"90"	"11"	"119216279"	"119216279"	"del"	"0"	"02329"	"C1QTNF5_000020"	"g.119216279del"	""	""	""	"MFRP(NM_031433.4):c.498del (p.(Asn167ThrfsTer25)), MFRP(NM_031433.4):c.498delC (p.N167Tfs*25)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000730688"	"1"	"90"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Birtel 2018:29555955}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.119339574G>C"	""	"pathogenic (dominant)"	""
"0000734713"	"0"	"50"	"11"	"119210197"	"119210197"	"dup"	"0"	"00000"	"C1QTNF5_000057"	"g.119210197dup"	""	"{PMID:Vincent 2017:28488341}"	""	"583dupG"	""	"Germline"	""	""	"0"	""	""	"g.119339487dup"	""	"VUS"	""
"0000736819"	"1"	"50"	"11"	"119210949"	"119210957"	"dup"	"0"	"00000"	"C1QTNF5_000058"	"g.119210949_119210957dup"	"1/486 individuals"	"{PMID:Sergouniotis 2016:27628848}"	""	""	"no genotypes reported"	"Germline"	""	""	"0"	""	""	"g.119340239_119340247dup"	""	"VUS"	""
"0000760338"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"RNF26_000002"	"g.119210284G>T"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.119339574G>T"	""	"likely pathogenic"	""
"0000783264"	"1"	"90"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"RNF26_000002"	"g.119210284G>T"	""	"{PMID:Almoguera 2015:26197217}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.119339574G>T"	""	"pathogenic"	""
"0000783992"	"1"	"50"	"11"	"119211044"	"119211046"	"del"	"0"	"00006"	"C1QTNF5_000048"	"g.119211044_119211046del"	"1/314 cases"	"{PMID:Xu 2015:25999675}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.119340334_119340336del"	""	"VUS"	""
"0000791541"	"10"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"RNF26_000002"	"g.119210284G>T"	"4/258"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.119339574G>T"	""	"likely pathogenic"	""
"0000791542"	"10"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"RNF26_000002"	"g.119210284G>T"	"4/258"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>T"	""	"likely pathogenic"	""
"0000791543"	"20"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"RNF26_000002"	"g.119210284G>T"	"4/258"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.119339574G>T"	""	"likely pathogenic"	""
"0000791544"	"20"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"RNF26_000002"	"g.119210284G>T"	"4/258"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>T"	""	"likely pathogenic"	""
"0000804933"	"0"	"50"	"11"	"119212456"	"119212456"	"subst"	"7.8226E-5"	"01943"	"C1QTNF5_000059"	"g.119212456C>G"	""	""	""	"MFRP(NM_031433.3):c.1542G>C (p.Q514H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000804934"	"0"	"30"	"11"	"119215359"	"119215359"	"subst"	"0"	"02330"	"C1QTNF5_000060"	"g.119215359C>T"	""	""	""	"C1QTNF5(NM_015645.5):c.-1756G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000804935"	"0"	"90"	"11"	"119216615"	"119216615"	"del"	"0"	"02327"	"C1QTNF5_000061"	"g.119216615del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000804936"	"0"	"90"	"11"	"119216826"	"119216826"	"subst"	"1.33019E-5"	"01943"	"C1QTNF5_000038"	"g.119216826C>T"	""	""	""	"MFRP(NM_031433.3):c.201G>A (p.W67*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000812635"	"0"	"90"	"11"	"119210189"	"119210189"	"dup"	"0"	"00000"	"C1QTNF5_000062"	"g.119210189dup"	""	"{PMID:Wang 2019:31106028}"	""	"c.585dup, p.(Met196Hisfs*7)"	"different transcript: NM_015645.4(C1QTNF5):c.585dup,  heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339479dup"	""	"pathogenic"	""
"0000815273"	"0"	"70"	"12"	"119210210"	"119210210"	"subst"	"0"	"00000"	"C1QTNF5_000001"	"g.119210210G>A"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"C1QTNF5:NM_015645 c.C563T, p.P188L"	"heterozygous, individual solved, variant causal"	"Germline"	"yes"	""	"0"	""	""	"g.119339500G>A"	""	"likely pathogenic"	"ACMG"
"0000815274"	"0"	"70"	"13"	"119210210"	"119210210"	"subst"	"0"	"00000"	"C1QTNF5_000001"	"g.119210210G>A"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"c.563C>T; p.(Pro188Leu)"	"heterozygous, individual solved, variant causal"	"Germline"	"yes"	""	"0"	""	""	"g.119339500G>A"	""	"likely pathogenic"	"ACMG"
"0000815275"	"0"	"70"	"14"	"119210210"	"119210210"	"subst"	"0"	"00000"	"C1QTNF5_000001"	"g.119210210G>A"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"c.563C>T; p.(Pro188Leu)"	"heterozygous, individual solved, variant causal"	"Germline"	"yes"	""	"0"	""	""	"g.119339500G>A"	""	"likely pathogenic"	"ACMG"
"0000815276"	"0"	"70"	"15"	"119210210"	"119210210"	"subst"	"0"	"00000"	"C1QTNF5_000001"	"g.119210210G>A"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"c.563C>T; p.(Pro188Leu)"	"heterozygous, individual solved, variant causal"	"Germline"	"yes"	""	"0"	""	""	"g.119339500G>A"	""	"likely pathogenic"	"ACMG"
"0000815508"	"0"	"50"	"11"	"119210193"	"119210193"	"subst"	"0"	"00000"	"C1QTNF5_000063"	"g.119210193C>T"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"C1QTNF5:NM_015645 c.G580A, p.G194R"	"heterozygous, individual solved, variant non-causal"	"Germline"	"?"	""	"0"	""	""	"g.119339483C>T"	""	"VUS"	"ACMG"
"0000821167"	"0"	"70"	"11"	"119210217"	"119210217"	"subst"	"0"	"00000"	"C1QTNF5_000050"	"g.119210217G>A"	""	"{PMID:Turro 2020:32581362}"	""	"C1QTNF5 c.556C>T, p.Pro186Ser"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.119339507G>A"	""	"likely pathogenic"	""
"0000821296"	"0"	"70"	"11"	"119215045"	"119215045"	"subst"	"0"	"00000"	"C1QTNF5_000051"	"g.119215045G>A"	""	"{PMID:Turro 2020:32581362}"	""	"MFRP c.955C>T, p.Gln319Ter"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.119344335G>A"	""	"likely pathogenic"	""
"0000821528"	"0"	"70"	"11"	"119210204"	"119210204"	"subst"	"0"	"00000"	"C1QTNF5_000049"	"g.119210204G>C"	""	"{PMID:Turro 2020:32581362}"	""	"C1QTNF5 c.569C>G, p.Ser190Trp"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.119339494G>C"	""	"likely pathogenic"	""
"0000821574"	"0"	"70"	"11"	"119217129"	"119223310"	"del"	"0"	"00000"	"C1QTNF5_000064"	"g.119217129_119223310del"	""	"{PMID:Turro 2020:32581362}"	""	"chr11:g.119217129_119223310del"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000852787"	"0"	"50"	"11"	"119210167"	"119210167"	"subst"	"0"	"02330"	"C1QTNF5_000065"	"g.119210167C>G"	""	""	""	"C1QTNF5(NM_015645.5):c.606G>C (p.E202D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000852788"	"0"	"90"	"11"	"119215096"	"119215096"	"dup"	"0"	"02329"	"C1QTNF5_000067"	"g.119215096dup"	""	""	""	"MFRP(NM_031433.4):c.909dupG (p.N304Efs*54)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000862341"	"0"	"30"	"11"	"119214536"	"119214536"	"subst"	"4.51249E-5"	"01943"	"C1QTNF5_000066"	"g.119214536G>A"	""	""	""	"MFRP(NM_031433.3):c.1114C>T (p.L372F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000873805"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Hayward 2003:12944416}"	""	"CTRP5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873806"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Hayward 2003:12944416}"	""	"CTRP5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873807"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Hayward 2003:12944416}"	""	"CTRP5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873808"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Hayward 2003:12944416}"	""	"CTRP5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873809"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Hayward 2003:12944416}"	""	"CTRP5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873810"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Hayward 2003:12944416}"	""	"CTRP5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873811"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Hayward 2003:12944416}"	""	"CTRP5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873812"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Hayward 2003:12944416}"	""	"CTRP5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873813"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Hayward 2003:12944416}"	""	"CTRP5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873814"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Hayward 2003:12944416}"	""	"CTRP5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873815"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Hayward 2003:12944416}"	""	"CTRP5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873816"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Hayward 2003:12944416}"	""	"CTRP5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873817"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Hayward 2003:12944416}"	""	"CTRP5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873818"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Hayward 2003:12944416}"	""	"CTRP5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873819"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Hayward 2003:12944416}"	""	"CTRP5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873820"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Hayward 2003:12944416}"	""	"CTRP5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873821"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Hayward 2003:12944416}"	""	"CTRP5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873822"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Hayward 2003:12944416}"	""	"CTRP5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873823"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Hayward 2003:12944416}"	""	"CTRP5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873824"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Hayward 2003:12944416}"	""	"CTRP5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873825"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Hayward 2003:12944416}"	""	"CTRP5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873826"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Hayward 2003:12944416}"	""	"CTRP5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873827"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Hayward 2003:12944416}"	""	"CTRP5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873828"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Hayward 2003:12944416}"	""	"CTRP5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873857"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Ayyagari 2005:16123441}"	""	"C1QTNF5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873858"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Ayyagari 2005:16123441}"	""	"C1QTNF5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873859"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Ayyagari 2005:16123441}"	""	"C1QTNF5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873860"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Ayyagari 2005:16123441}"	""	"C1QTNF5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873861"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Ayyagari 2005:16123441}"	""	"C1QTNF5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873862"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Ayyagari 2005:16123441}"	""	"C1QTNF5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873863"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Ayyagari 2005:16123441}"	""	"C1QTNF5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873864"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Ayyagari 2005:16123441}"	""	"C1QTNF5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873865"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Ayyagari 2005:16123441}"	""	"C1QTNF5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873866"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Ayyagari 2005:16123441}"	""	"C1QTNF5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873867"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Ayyagari 2005:16123441}"	""	"C1QTNF5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873868"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Ayyagari 2005:16123441}"	""	"C1QTNF5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873869"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Ayyagari 2005:16123441}"	""	"C1QTNF5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873870"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Ayyagari 2005:16123441}"	""	"C1QTNF5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873871"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Ayyagari 2005:16123441}"	""	"C1QTNF5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873872"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Ayyagari 2005:16123441}"	""	"C1QTNF5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873873"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Ayyagari 2005:16123441}"	""	"C1QTNF5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873874"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Ayyagari 2005:16123441}"	""	"C1QTNF5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873875"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Ayyagari 2005:16123441}"	""	"C1QTNF5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873876"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Ayyagari 2005:16123441}"	""	"C1QTNF5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873877"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Ayyagari 2005:16123441}"	""	"C1QTNF5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873878"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Ayyagari 2005:16123441}"	""	"C1QTNF5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873879"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Ayyagari 2005:16123441}"	""	"C1QTNF5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873880"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Ayyagari 2005:16123441}"	""	"C1QTNF5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873881"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Ayyagari 2005:16123441}"	""	"C1QTNF5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873882"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Ayyagari 2005:16123441}"	""	"C1QTNF5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873883"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Ayyagari 2005:16123441}"	""	"C1QTNF5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873884"	"0"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Ayyagari 2005:16123441}"	""	"C1QTNF5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"likely pathogenic"	""
"0000873933"	"10"	"70"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Subrayan 2005:16376663}"	""	"CTRP5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"pathogenic (dominant)"	""
"0000873934"	"0"	"90"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Shu 2006:16600989}"	""	"CTRP5 Ser163Arg"	"haploinsufficiency resulting from lack of secreted C1QTNF5 protein by RPE cells, which appears to be a consequence of the tendency of the mutant protein to form high-molecular weight aggregates; C1QTNF5 self-assembly is unaffected by mutation, mutant retained in the ER and preferentially degraded by the proteasome"	"In vitro (cloned)"	"?"	""	"0"	""	""	"g.119339574G>C"	""	"pathogenic (dominant)"	""
"0000873935"	"0"	"90"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Vincent 2012:22277927}"	""	"C1QTNF5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"pathogenic (dominant)"	""
"0000873936"	"0"	"90"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Vincent 2012:22277927}"	""	"C1QTNF5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"pathogenic (dominant)"	""
"0000873937"	"0"	"90"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Vincent 2012:22277927}"	""	"C1QTNF5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"pathogenic (dominant)"	""
"0000873938"	"0"	"90"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Soumplis 2013:23289492}"	""	"C1QTNF5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"pathogenic (dominant)"	""
"0000873939"	"0"	"90"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Soumplis 2013:23289492}"	""	"C1QTNF5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"pathogenic (dominant)"	""
"0000873940"	"0"	"90"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Soumplis 2013:23289492}"	""	"C1QTNF5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"pathogenic (dominant)"	""
"0000873941"	"0"	"90"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Soumplis 2013:23289492}"	""	"C1QTNF5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"pathogenic (dominant)"	""
"0000873942"	"0"	"90"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Papastavrou 2015:25863850}"	""	"C1QTNF5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"pathogenic (dominant)"	""
"0000873943"	"0"	"90"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Papastavrou 2015:25863850}"	""	"C1QTNF5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"pathogenic (dominant)"	""
"0000873944"	"0"	"90"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Papastavrou 2015:25863850}"	""	"C1QTNF5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"pathogenic (dominant)"	""
"0000873945"	"0"	"90"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Papastavrou 2015:25863850}"	""	"C1QTNF5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"pathogenic (dominant)"	""
"0000873946"	"0"	"90"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Papastavrou 2015:25863850}"	""	"C1QTNF5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"pathogenic (dominant)"	""
"0000873947"	"0"	"90"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Papastavrou 2015:25863850}"	""	"C1QTNF5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"pathogenic (dominant)"	""
"0000873948"	"0"	"90"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Papastavrou 2015:25863850}"	""	"C1QTNF5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"pathogenic (dominant)"	""
"0000873949"	"0"	"90"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Papastavrou 2015:25863850}"	""	"C1QTNF5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"pathogenic (dominant)"	""
"0000873950"	"0"	"90"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Papastavrou 2015:25863850}"	""	"C1QTNF5 Ser163Arg"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"pathogenic (dominant)"	""
"0000873951"	"0"	"90"	"11"	"119210127"	"119210127"	"subst"	"0"	"00000"	"C1QTNF5_000068"	"g.119210127C>A"	""	"{PMID:Stanton 2017:28939808}"	""	"C1QTNF5 c.646G>T, p.G216C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339417C>A"	""	"pathogenic (dominant)"	""
"0000873952"	"0"	"90"	"11"	"119210127"	"119210127"	"subst"	"0"	"00000"	"C1QTNF5_000068"	"g.119210127C>A"	""	"{PMID:Stanton 2017:28939808}"	""	"C1QTNF5 c.646G>T, p.G216C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339417C>A"	""	"pathogenic (dominant)"	""
"0000873953"	"0"	"90"	"11"	"119210127"	"119210127"	"subst"	"0"	"00000"	"C1QTNF5_000068"	"g.119210127C>A"	""	"{PMID:Stanton 2017:28939808}"	""	"C1QTNF5 c.646G>T, p.G216C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339417C>A"	""	"pathogenic (dominant)"	""
"0000873954"	"0"	"90"	"11"	"119210127"	"119210127"	"subst"	"0"	"00000"	"C1QTNF5_000068"	"g.119210127C>A"	""	"{PMID:Stanton 2017:28939808}"	""	"C1QTNF5 c.646G>T, p.G216C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339417C>A"	""	"pathogenic (dominant)"	""
"0000873955"	"0"	"90"	"11"	"119210127"	"119210127"	"subst"	"0"	"00000"	"C1QTNF5_000068"	"g.119210127C>A"	""	"{PMID:Stanton 2017:28939808}"	""	"C1QTNF5 c.646G>T, p.G216C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339417C>A"	""	"pathogenic (dominant)"	""
"0000873956"	"0"	"90"	"11"	"119210127"	"119210127"	"subst"	"0"	"00000"	"C1QTNF5_000068"	"g.119210127C>A"	""	"{PMID:Stanton 2017:28939808}"	""	"C1QTNF5 c.646G>T, p.G216C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339417C>A"	""	"pathogenic (dominant)"	""
"0000873957"	"0"	"90"	"11"	"119210211"	"119210211"	"subst"	"0"	"00000"	"C1QTNF5_000069"	"g.119210211G>T"	""	"{PMID:Stanton 2017:28939808}"	""	"C1QTNF5 c.646G>T, p.P188T"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339501G>T"	""	"pathogenic (dominant)"	""
"0000873958"	"0"	"90"	"11"	"119210211"	"119210211"	"subst"	"0"	"00000"	"C1QTNF5_000069"	"g.119210211G>T"	""	"{PMID:Stanton 2017:28939808}"	""	"C1QTNF5 c.646G>T, p.P188T"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339501G>T"	""	"pathogenic (dominant)"	""
"0000873959"	"0"	"90"	"11"	"119210211"	"119210211"	"subst"	"0"	"00000"	"C1QTNF5_000069"	"g.119210211G>T"	""	"{PMID:Stanton 2017:28939808}"	""	"C1QTNF5 c.646G>T, p.P188T"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339501G>T"	""	"pathogenic (dominant)"	""
"0000873960"	"0"	"90"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"RNF26_000002"	"g.119210284G>T"	""	"{PMID:Stanton 2017:28939808}"	""	"C1QTNF5 c.646G>T,p.S163R"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>T"	""	"pathogenic (dominant)"	""
"0000874369"	"3"	"70"	"11"	"119213694"	"119213694"	"dup"	"0"	"00000"	"MFRP_000007"	"g.119213694dup"	""	"{PMID:Sundin 2005:15976030}"	""	"MFRP c.1143insC"	"homozygous; c.1143_1144insC automapped to NM_031433.2:c.1150dupC"	"Germline"	"yes"	""	"0"	""	""	"g.119342984dup"	""	"likely pathogenic"	""
"0000874370"	"3"	"70"	"11"	"119213694"	"119213694"	"dup"	"0"	"00000"	"MFRP_000007"	"g.119213694dup"	""	"{PMID:Sundin 2005:15976030}"	""	"MFRP c.1143insC"	"homozygous; c.1143_1144insC automapped to NM_031433.2:c.1150dupC"	"Germline"	"yes"	""	"0"	""	""	"g.119342984dup"	""	"likely pathogenic"	""
"0000874371"	"3"	"70"	"11"	"119213694"	"119213694"	"dup"	"0"	"00000"	"MFRP_000007"	"g.119213694dup"	""	"{PMID:Sundin 2005:15976030}"	""	"MFRP c.1143insC"	"homozygous; c.1143_1144insC automapped to NM_031433.2:c.1150dupC"	"Germline"	"yes"	""	"0"	""	""	"g.119342984dup"	""	"likely pathogenic"	""
"0000874372"	"3"	"70"	"11"	"119213694"	"119213694"	"dup"	"0"	"00000"	"MFRP_000007"	"g.119213694dup"	""	"{PMID:Sundin 2005:15976030}"	""	"MFRP c.1143insC"	"homozygous; c.1143_1144insC automapped to NM_031433.2:c.1150dupC"	"Germline"	"yes"	""	"0"	""	""	"g.119342984dup"	""	"likely pathogenic"	""
"0000874373"	"0"	"70"	"11"	"119213694"	"119213694"	"dup"	"0"	"00000"	"MFRP_000007"	"g.119213694dup"	""	"{PMID:Sundin 2005:15976030}"	""	"MFRP c.1143insC"	"single heterozygous, but symptomatic; c.1143_1144insC automapped to NM_031433.2:c.1150dupC"	"Germline"	"yes"	""	"0"	""	""	"g.119342984dup"	""	"likely pathogenic"	""
"0000874374"	"3"	"70"	"11"	"119216248"	"119216248"	"subst"	"3.69428E-5"	"00000"	"C1QTNF5_000071"	"g.119216248G>A"	""	"{PMID:Sundin 2005:15976030}"	""	"MFRP Q175X"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119345538G>A"	""	"likely pathogenic"	""
"0000874375"	"21"	"70"	"11"	"119216279"	"119216279"	"del"	"0"	"00000"	"C1QTNF5_000020"	"g.119216279del"	""	"{PMID:Sundin 2005:15976030}"	""	"MFRP 492delC"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119345569del"	""	"likely pathogenic"	""
"0000874376"	"21"	"70"	"11"	"119216279"	"119216279"	"del"	"0"	"00000"	"C1QTNF5_000020"	"g.119216279del"	""	"{PMID:Sundin 2005:15976030}"	""	"MFRP 492delC"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119345569del"	""	"likely pathogenic"	""
"0000874377"	"11"	"70"	"11"	"119216226"	"119216226"	"subst"	"0"	"00000"	"C1QTNF5_000070"	"g.119216226A>G"	""	"{PMID:Sundin 2005:15976030}"	""	"MFRP I182T"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119345516A>G"	""	"likely pathogenic"	""
"0000874378"	"11"	"70"	"11"	"119216226"	"119216226"	"subst"	"0"	"00000"	"C1QTNF5_000070"	"g.119216226A>G"	""	"{PMID:Sundin 2005:15976030}"	""	"MFRP I182T"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119345516A>G"	""	"likely pathogenic"	""
"0000874382"	"3"	"70"	"11"	"119216279"	"119216279"	"dup"	"0"	"00000"	"MFRP_000006"	"g.119216279dup"	""	"{PMID:Ayala-Ramirez 2006:17167404}"	""	"MFRP c.498_499insC, P165fsX198"	"homozygous; error in annotation, moved to c.498dup, first amino acid affected rule shifts it to p.(Asn167Glnfs*34)"	"Germline"	"yes"	""	"0"	""	""	"g.119345569dup"	""	"likely pathogenic"	""
"0000874383"	"3"	"70"	"11"	"119216279"	"119216279"	"dup"	"0"	"00000"	"MFRP_000006"	"g.119216279dup"	""	"{PMID:Ayala-Ramirez 2006:17167404}"	""	"MFRP c.498_499insC, P165fsX198"	"homozygous; error in annotation, moved to c.498dup, first amino acid affected rule shifts it to p.(Asn167Glnfs*34)"	"Germline"	"yes"	""	"0"	""	""	"g.119345569dup"	""	"likely pathogenic"	""
"0000874384"	"3"	"70"	"11"	"119216279"	"119216279"	"dup"	"0"	"00000"	"MFRP_000006"	"g.119216279dup"	""	"{PMID:Ayala-Ramirez 2006:17167404}"	""	"MFRP c.498_499insC, P165fsX198"	"homozygous; error in annotation, moved to c.498dup, first amino acid affected rule shifts it to p.(Asn167Glnfs*34)"	"Germline"	"yes"	""	"0"	""	""	"g.119345569dup"	""	"likely pathogenic"	""
"0000874385"	"3"	"70"	"11"	"119216279"	"119216279"	"dup"	"0"	"00000"	"MFRP_000006"	"g.119216279dup"	""	"{PMID:Ayala-Ramirez 2006:17167404}"	""	"MFRP c.498_499insC, P165fsX198"	"homozygous; error in annotation, moved to c.498dup, first amino acid affected rule shifts it to p.(Asn167Glnfs*34)"	"Germline"	"yes"	""	"0"	""	""	"g.119345569dup"	""	"likely pathogenic"	""
"0000874404"	"3"	"70"	"11"	"119216279"	"119216279"	"del"	"0"	"00000"	"C1QTNF5_000020"	"g.119216279del"	""	"{PMID:Crespi 2008:18554571}"	""	"MFRP c.498delC, P166fsX190"	"homozygous; error in annotation, first amino acid affected rule shifts it to p.(Asn167Thrfs*25)"	"Germline"	"yes"	""	"0"	""	""	"g.119345569del"	""	"likely pathogenic"	""
"0000874405"	"3"	"70"	"11"	"119216279"	"119216279"	"del"	"0"	"00000"	"C1QTNF5_000020"	"g.119216279del"	""	"{PMID:Crespi 2008:18554571}"	""	"MFRP c.498delC, P166fsX190"	"homozygous; error in annotation, first amino acid affected rule shifts it to p.(Asn167Thrfs*25)"	"Germline"	"yes"	""	"0"	""	""	"g.119345569del"	""	"likely pathogenic"	""
"0000874406"	"3"	"70"	"11"	"119216279"	"119216279"	"del"	"0"	"00000"	"C1QTNF5_000020"	"g.119216279del"	""	"{PMID:Crespi 2008:18554571}"	""	"MFRP c.498delC, P166fsX190"	"homozygous; error in annotation, first amino acid affected rule shifts it to p.(Asn167Thrfs*25)"	"Germline"	"yes"	""	"0"	""	""	"g.119345569del"	""	"likely pathogenic"	""
"0000874421"	"0"	"30"	"11"	"119216835"	"119216835"	"subst"	"0.000501532"	"00000"	"C1QTNF5_000044"	"g.119216835G>C"	"genotype, cases (%), controls(%): CC, 97, 0.98%, 88, 0.99%; CG, 2, 0.02%, 1, 0.01%; GG, 0, 0.0%, 0, 0.0%"	"{PMID:Aung 2008:18648522}"	""	"MFRP Arg64Arg (c.192C>G)"	"genotype, cases (%), controls(%): CC, 97, 0.98%, 88, 0.99%; CG, 2, 0.02%, 1, 0.01%; GG, 0, 0.0%, 0, 0.0%"	"Unknown"	"?"	""	"0"	""	""	"g.119346125G>C"	""	"likely benign"	""
"0000874422"	"0"	"30"	"11"	"119216504"	"119216504"	"subst"	"0.265596"	"00000"	"C1QTNF5_000022"	"g.119216504C>T"	"genotype, cases (%), controls(%): GG, 79, 0.74%, 65, 0.70%; GA, 27, 0.25%, 27, 0.29%; AA, 1, 0.01%, 1, 0.01%"	"{PMID:Aung 2008:18648522}"	""	"MFRP Val136Met (c.406G>A)"	"genotype, cases (%), controls(%): GG, 79, 0.74%, 65, 0.70%; GA, 27, 0.25%, 27, 0.29%; AA, 1, 0.01%, 1, 0.01%"	"Unknown"	"?"	"rs3814762"	"0"	""	""	"g.119345794C>T"	""	"likely benign"	""
"0000874423"	"0"	"30"	"11"	"119216279"	"119216279"	"subst"	"0.208574"	"00000"	"C1QTNF5_000081"	"g.119216279G>A"	"genotype, cases (%), controls(%): CC, 64, 0.60%, 58, 0.62%; CT, 36, 0.34%, 32, 0.35%; TT, 7, 0.06%, 3, 0.03%"	"{PMID:Aung 2008:18648522}"	""	"MFRP Tyr164Tyr (c.492C>T)"	"genotype, cases (%), controls(%): CC, 64, 0.60%, 58, 0.62%; CT, 36, 0.34%, 32, 0.35%; TT, 7, 0.06%, 3, 0.03%"	"Unknown"	"?"	"rs36015759"	"0"	""	""	"g.119345569G>A"	""	"likely benign"	""
"0000874424"	"0"	"30"	"11"	"119216231"	"119216231"	"subst"	"0.932135"	"00000"	"C1QTNF5_000019"	"g.119216231A>G"	"genotype, cases (%), controls(%): CC, 69, 0.68%, 72, 0.78%; CT, 28, 0.28%, 19, 0.20%; TT, 4, 0.04%, 2, 0.02%"	"{PMID:Aung 2008:18648522}"	""	"MFRP His180His (c.540 C>T)"	"genotype, cases (%), controls(%): CC, 69, 0.68%, 72, 0.78%; CT, 28, 0.28%, 19, 0.20%; TT, 4, 0.04%, 2, 0.02%"	"Unknown"	"?"	"rs2510143"	"0"	""	""	"g.119345521A>G"	""	"likely benign"	""
"0000874425"	"0"	"30"	"11"	"119215586"	"119215586"	"subst"	"0.00830057"	"00000"	"C1QTNF5_000075"	"g.119215586C>T"	"genotype, cases (%), controls(%): GG, 103, 0.98%, 93, 1.0%; GA, 2, 0.02%, 0, 0.0%; AA, 0, 0.0%, 0, 0.0%"	"{PMID:Aung 2008:18648522}"	""	"MFRP Arg257His (c.770 G>A)"	"genotype, cases (%), controls(%): GG, 103, 0.98%, 93, 1.0%; GA, 2, 0.02%, 0, 0.0%; AA, 0, 0.0%, 0, 0.0%"	"Unknown"	"?"	""	"0"	""	""	"g.119344876C>T"	""	"likely benign"	""
"0000874426"	"0"	"30"	"11"	"119215046"	"119215046"	"subst"	"0.0548265"	"00000"	"C1QTNF5_000028"	"g.119215046C>T"	"genotype, cases (%), controls(%): GG, 91, 0.96%, 85, 0.91%; GA, 4, 0.04%, 8, 0.09%; AA, 0, 0.0%, 0, 0.0%"	"{PMID:Aung 2008:18648522}"	""	"MFRP Leu318Leu (c.954 G>A)"	"genotype, cases (%), controls(%): GG, 91, 0.96%, 85, 0.91%; GA, 4, 0.04%, 8, 0.09%; AA, 0, 0.0%, 0, 0.0%"	"Unknown"	"?"	"rs35885438"	"0"	""	""	"g.119344336C>T"	""	"likely benign"	""
"0000874431"	"0"	"30"	"11"	"119217254"	"119217254"	"subst"	"0.592224"	"00000"	"C1QTNF5_000030"	"g.119217254C>T"	"26/51 affected patients, not determined in 96 normal controls"	"{PMID:Wang 2009:19169412}"	""	"MFRP c.1-31G>A, codon change: GGA-GAA"	"heterozygous; not determined in controls"	"Unknown"	"?"	"rs883247"	"0"	""	""	"g.119346544C>T"	""	"likely benign"	""
"0000874432"	"0"	"30"	"11"	"119217098"	"119217101"	"dup"	"0"	"00000"	"C1QTNF5_000085"	"g.119217098_119217101dup"	"3/51 affected patients, 7/96 normal controls"	"{PMID:Wang 2009:19169412}"	""	"MFRP c.55-14_55-13insGTAT, codon change: No effect"	"heterozygous; no statistical significance"	"Unknown"	"?"	""	"0"	""	""	"g.119346388_119346391dup"	""	"likely benign"	""
"0000874433"	"0"	"30"	"11"	"119216835"	"119216835"	"subst"	"0.000501532"	"00000"	"C1QTNF5_000044"	"g.119216835G>C"	"1/51 affected patients, 0/96 normal controls"	"{PMID:Wang 2009:19169412}"	""	"MFRP c.192C>G, codon change: CGC-CGG"	"heterozygous; not present in controls"	"Unknown"	"?"	""	"0"	""	""	"g.119346125G>C"	""	"likely benign"	""
"0000874434"	"0"	"30"	"11"	"119216504"	"119216504"	"subst"	"0.265596"	"00000"	"C1QTNF5_000022"	"g.119216504C>T"	"20/51 affected patients, not determined in 96 normal controls"	"{PMID:Wang 2009:19169412}"	""	"MFRP c.406G>A, codon change: GTG-ATG"	"heterozygous; not determined in controls"	"Unknown"	"?"	"rs3814762"	"0"	""	""	"g.119345794C>T"	""	"likely benign"	""
"0000874435"	"0"	"30"	"11"	"119216279"	"119216279"	"subst"	"0.208574"	"00000"	"C1QTNF5_000081"	"g.119216279G>A"	"20/51 affected patients, 36/96 normal controls"	"{PMID:Wang 2009:19169412}"	""	"MFRP c.492C>T, codon change: TAC-TAT"	"heterozygous; no statistical significance"	"Unknown"	"?"	"rs36015759"	"0"	""	""	"g.119345569G>A"	""	"likely benign"	""
"0000874436"	"0"	"30"	"11"	"119216275"	"119216275"	"subst"	"0.000435222"	"00000"	"C1QTNF5_000035"	"g.119216275G>C"	"1/51 affected patients, 3/96 normal controls"	"{PMID:Wang 2009:19169412}"	""	"MFRP c.496C>G, codon change: CCC-GCC"	"heterozygous; no statistical significance"	"Unknown"	"?"	""	"0"	""	""	"g.119345565G>C"	""	"likely benign"	""
"0000874437"	"0"	"30"	"11"	"119216231"	"119216231"	"subst"	"0.932135"	"00000"	"C1QTNF5_000019"	"g.119216231A>G"	"51/51 affected patients, 95/96 normal controls"	"{PMID:Wang 2009:19169412}"	""	"MFRP c.540T>C, codon change: CAT-CAC"	"heterozygous; no statistical significance"	"Unknown"	"?"	"rs2510143"	"0"	""	""	"g.119345521A>G"	""	"likely benign"	""
"0000874438"	"0"	"30"	"11"	"119215692"	"119215692"	"subst"	"0"	"00000"	"C1QTNF5_000078"	"g.119215692G>T"	"1/51 affected patients, 0/96 normal controls"	"{PMID:Wang 2009:19169412}"	""	"MFRP c.664C>A, codon change: CCC-ACC"	"heterozygous; not present in controls"	"Unknown"	"?"	""	"0"	""	""	"g.119344982G>T"	""	"likely benign"	""
"0000874439"	"0"	"30"	"11"	"119215687"	"119215687"	"subst"	"0.000613497"	"00000"	"C1QTNF5_000077"	"g.119215687C>T"	"2/51 affected patients, 0/96 normal controls"	"{PMID:Wang 2009:19169412}"	""	"MFRP c.669G>A, codon change: ACG-ACA"	"heterozygous; not present in controls"	"Unknown"	"?"	""	"0"	""	""	"g.119344977C>T"	""	"likely benign"	""
"0000874440"	"0"	"30"	"11"	"119215586"	"119215586"	"subst"	"0.00830057"	"00000"	"C1QTNF5_000075"	"g.119215586C>T"	"1/51 affected patients, 2/96 normal controls"	"{PMID:Wang 2009:19169412}"	""	"MFRP c.770G>A, codon change: CGC-CAC"	"heterozygous; no statistical significance"	"Unknown"	"?"	""	"0"	""	""	"g.119344876C>T"	""	"likely benign"	""
"0000874441"	"0"	"30"	"11"	"119215046"	"119215046"	"subst"	"0.0548265"	"00000"	"C1QTNF5_000028"	"g.119215046C>T"	"1/51 affected patients, not determined in 96 normal controls"	"{PMID:Wang 2009:19169412}"	""	"MFRP c.954G>A, codon change: CTG-CTA"	"heterozygous; not determined in controls"	"Unknown"	"?"	"rs35885438"	"0"	""	""	"g.119344336C>T"	""	"likely benign"	""
"0000874444"	"3"	"70"	"11"	"119216279"	"119216279"	"del"	"0"	"00000"	"C1QTNF5_000020"	"g.119216279del"	""	"{PMID:Zenteno 2009:19753314}"	""	"MFRP c.498delC, p.Asn167ThrfsX25"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119345569del"	""	"likely pathogenic"	""
"0000874445"	"3"	"70"	"11"	"119216279"	"119216279"	"del"	"0"	"00000"	"C1QTNF5_000020"	"g.119216279del"	""	"{PMID:Zenteno 2009:19753314}"	""	"MFRP c.498delC, p.Asn167ThrfsX25"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119345569del"	""	"likely pathogenic"	""
"0000874446"	"3"	"70"	"11"	"119213694"	"119213694"	"dup"	"0"	"00000"	"MFRP_000007"	"g.119213694dup"	""	"{PMID:Mukhopadhyay 2010:20361016}"	""	"MFRP c.1143_1144 insC (homo); p.His384Pro fs8X"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119342984dup"	""	"likely pathogenic"	""
"0000874447"	"3"	"70"	"11"	"119213694"	"119213694"	"dup"	"0"	"00000"	"MFRP_000007"	"g.119213694dup"	""	"{PMID:Mukhopadhyay 2010:20361016}"	""	"MFRP c.1143_1144 insC (homo); p.His384Pro fs8X"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119342984dup"	""	"likely pathogenic"	""
"0000874448"	"3"	"70"	"11"	"119213694"	"119213694"	"dup"	"0"	"00000"	"MFRP_000007"	"g.119213694dup"	""	"{PMID:Mukhopadhyay 2010:20361016}"	""	"MFRP c.1143_1144 insC (homo); p.His384Pro fs8X"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119342984dup"	""	"likely pathogenic"	""
"0000874449"	"1"	"70"	"11"	"119216826"	"119216826"	"subst"	"1.33019E-5"	"00000"	"C1QTNF5_000038"	"g.119216826C>T"	""	"{PMID:Mukhopadhyay 2010:20361016}"	""	"MFRP c.201G>A (het); p.Trp67X"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119346116C>T"	""	"likely pathogenic"	""
"0000874450"	"1"	"70"	"11"	"119216826"	"119216826"	"subst"	"1.33019E-5"	"00000"	"C1QTNF5_000038"	"g.119216826C>T"	""	"{PMID:Mukhopadhyay 2010:20361016}"	""	"MFRP c.201G>A (het); p.Trp67X"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119346116C>T"	""	"likely pathogenic"	""
"0000874451"	"3"	"70"	"11"	"119216279"	"119216279"	"del"	"0"	"00000"	"C1QTNF5_000020"	"g.119216279del"	""	"{PMID:Mukhopadhyay 2010:20361016}"	""	"MFRP c.492 delC (homo); p.Asn167Thr fs25X"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119345569del"	""	"likely pathogenic"	""
"0000874452"	"1"	"70"	"11"	"119212377"	"119212380"	"del"	"0"	"00000"	"C1QTNF5_000020"	"g.119212377_119212380del"	""	"{PMID:Mukhopadhyay 2010:20361016}"	""	"MFRP c.492 delC (het); p.Asn167Thr fs25X"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119341667_119341670del"	""	"likely pathogenic"	""
"0000874453"	"2"	"70"	"11"	"119216279"	"119216280"	"ins"	"2.87552E-5"	"00000"	"C1QTNF5_000082"	"g.119216279_119216280insA"	""	"{PMID:Mukhopadhyay 2010:20361016}"	""	"MFRP c.491_492 insT (het); p.Asn167Gln fs34X"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119345569_119345570insA"	""	"likely pathogenic"	""
"0000874454"	"2"	"70"	"11"	"119216279"	"119216280"	"ins"	"2.87552E-5"	"00000"	"C1QTNF5_000082"	"g.119216279_119216280insA"	""	"{PMID:Mukhopadhyay 2010:20361016}"	""	"MFRP c.491_492 insT (het); p.Asn167Gln fs34X"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119345569_119345570insA"	""	"likely pathogenic"	""
"0000874455"	"2"	"70"	"11"	"119212377"	"119212380"	"del"	"0"	"00000"	"C1QTNF5_000020"	"g.119212377_119212380del"	""	"{PMID:Mukhopadhyay 2010:20361016}"	""	"MFRP c.1622_1625 delTCTG (het); p.Val541Ala fs188X"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119341667_119341670del"	""	"likely pathogenic"	""
"0000874456"	"3"	"70"	"11"	"119212449"	"119212449"	"subst"	"2.05873E-5"	"00000"	"MFRP_000001"	"g.119212449G>A"	""	"{PMID:Aldahmesh 2011:21670352}"	""	"MFRP c.1549C>T, p.R517W"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119341739G>A"	""	"likely pathogenic"	""
"0000874457"	"3"	"70"	"11"	"119212449"	"119212449"	"subst"	"2.05873E-5"	"00000"	"MFRP_000001"	"g.119212449G>A"	""	"{PMID:Aldahmesh 2011:21670352}"	""	"MFRP c.1549C>T, p.R517W"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119341739G>A"	""	"likely pathogenic"	""
"0000874459"	"11"	"70"	"11"	"119216279"	"119216279"	"del"	"0"	"00000"	"C1QTNF5_000020"	"g.119216279del"	""	"{PMID:Dinculescu 2012:22142163}"	""	"MFRP c.498delC, p.Asn167ThrfsX25"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119345569del"	""	"likely pathogenic"	""
"0000874460"	"21"	"70"	"11"	"119214525"	"119214525"	"subst"	"6.15385E-5"	"00000"	"MFRP_000009"	"g.119214525C>A"	""	"{PMID:Dinculescu 2012:22142163}"	""	"MFRP G-to-T mutation at the conserved 5\' donor splice site at exon/intron 9"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119343815C>A"	""	"likely pathogenic"	""
"0000874462"	"21"	"70"	"11"	"119216543"	"119216543"	"subst"	"0"	"00000"	"C1QTNF5_000083"	"g.119216543G>A"	""	"{PMID:Matsushita 2012:22565643}"	""	"MFRP c.367c>t (Q123X)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119345833G>A"	""	"likely pathogenic"	""
"0000874463"	"11"	"70"	"11"	"119213365"	"119213365"	"subst"	"0"	"00000"	"C1QTNF5_000073"	"g.119213365C>T"	""	"{PMID:Matsushita 2012:22565643}"	""	"MFRP c.1328g>a (W443X)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119342655C>T"	""	"likely pathogenic"	""
"0000874464"	"3"	"70"	"11"	"119216279"	"119216279"	"del"	"0"	"00000"	"C1QTNF5_000020"	"g.119216279del"	""	"{PMID:Neri 2012:23112574}"	""	"MFRP 492delC (alternatively named c.498delC), P166fsX190"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119345569del"	""	"likely pathogenic"	""
"0000874477"	"3"	"70"	"11"	"119212449"	"119212449"	"subst"	"2.05873E-5"	"00000"	"MFRP_000001"	"g.119212449G>A"	""	"{PMID:Nowilaty 2013:23127749}"	""	"MFRP: c.[1549C>T];[1549C>T], p.[R517W];[R517W]"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.119341739G>A"	""	"likely pathogenic"	""
"0000874497"	"3"	"70"	"11"	"119215695"	"119215695"	"dup"	"0"	"00000"	"MFRP_000002"	"g.119215695dup"	""	"{PMID:Nowilaty 2013:23127749}"	""	"MFRP: c.[666dup];[666dup], p.[T223HfsX16]; [T223HfsX16]"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.119344985dup"	""	"likely pathogenic"	""
"0000874537"	"3"	"70"	"11"	"119216279"	"119216279"	"del"	"0"	"00000"	"C1QTNF5_000020"	"g.119216279del"	""	"{PMID:Ritter 2013:23143909}"	""	"MFRP c.498del, p.(Asn167Thrfs*25)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119345569del"	""	"likely pathogenic"	""
"0000874540"	"0"	"70"	"11"	"119216279"	"119216279"	"del"	"0"	"00000"	"C1QTNF5_000020"	"g.119216279del"	""	"{PMID:Ritter 2013:23143909}"	""	"MFRP c.498del, p.(Asn167Thrfs*25)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119345569del"	""	"likely pathogenic"	""
"0000874543"	"3"	"70"	"11"	"119216279"	"119216279"	"dup"	"0"	"00000"	"MFRP_000006"	"g.119216279dup"	""	"{PMID:Wasmann 2014:23742260}"	""	"MFRP c.498dup, p.(Asn167fs)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119345569dup"	""	"likely pathogenic"	""
"0000874544"	"3"	"70"	"11"	"119216279"	"119216279"	"dup"	"0"	"00000"	"MFRP_000006"	"g.119216279dup"	""	"{PMID:Wasmann 2014:23742260}"	""	"MFRP c.498dup, p.(Asn167fs)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119345569dup"	""	"likely pathogenic"	""
"0000874546"	"1"	"70"	"11"	"119216279"	"119216279"	"del"	"0"	"00000"	"C1QTNF5_000020"	"g.119216279del"	""	"{PMID:Zacharias 2015:25383852}"	""	"MFRP c.492delC"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119345569del"	""	"likely pathogenic"	""
"0000874547"	"2"	"70"	"11"	"119213694"	"119213694"	"dup"	"0"	"00000"	"MFRP_000007"	"g.119213694dup"	""	"{PMID:Zacharias 2015:25383852}"	""	"MFRP c.1150dupC"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119342984dup"	""	"likely pathogenic"	""
"0000874549"	"21"	"90"	"11"	"119216619"	"119216623"	"del"	"0"	"00000"	"C1QTNF5_000084"	"g.119216619_119216623del"	"0/384 controls"	"{PMID:Xu 2016:26583794}"	""	"MFRP c.287_291delCCCCA, p.P96Lfs*6"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119345909_119345913del"	""	"pathogenic"	"ACMG"
"0000874550"	"21"	"70"	"11"	"119215692"	"119215692"	"subst"	"0"	"00000"	"C1QTNF5_000078"	"g.119215692G>T"	""	"{PMID:Xu 2016:26583794}"	""	"MFRP c.664C>A, p.P222T"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119344982G>T"	""	"likely pathogenic"	"ACMG"
"0000874551"	"21"	"70"	"11"	"119215692"	"119215692"	"subst"	"0"	"00000"	"C1QTNF5_000078"	"g.119215692G>T"	""	"{PMID:Xu 2016:26583794}"	""	"MFRP c.664C>A, p.P222T"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119344982G>T"	""	"likely pathogenic"	"ACMG"
"0000874552"	"0"	"90"	"11"	"119213694"	"119213694"	"dup"	"0"	"00000"	"MFRP_000007"	"g.119213694dup"	""	"{PMID:Xu 2016:26583794}"	""	"MFRP c.1150dupC, p.H384Pfs*8"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.119342984dup"	""	"pathogenic"	"ACMG"
"0000874553"	"11"	"70"	"11"	"119212383"	"119212383"	"subst"	"8.65137E-5"	"00000"	"C1QTNF5_000005"	"g.119212383G>A"	"0/384 controls"	"{PMID:Xu 2016:26583794}"	""	"MFRP c.1615C>T, p.R539C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119341673G>A"	""	"likely pathogenic"	"ACMG"
"0000874554"	"11"	"70"	"11"	"119212383"	"119212383"	"subst"	"8.65137E-5"	"00000"	"C1QTNF5_000005"	"g.119212383G>A"	"0/384 controls"	"{PMID:Xu 2016:26583794}"	""	"MFRP c.1615C>T, p.R539C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119341673G>A"	""	"likely pathogenic"	"ACMG"
"0000874555"	"11"	"70"	"11"	"119212383"	"119212383"	"subst"	"8.65137E-5"	"00000"	"C1QTNF5_000005"	"g.119212383G>A"	"0/384 controls"	"{PMID:Xu 2016:26583794}"	""	"MFRP c.1615C>T, p.R539C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119341673G>A"	""	"likely pathogenic"	"ACMG"
"0000874556"	"0"	"70"	"11"	"119212449"	"119212449"	"subst"	"2.05873E-5"	"00000"	"MFRP_000001"	"g.119212449G>A"	"0/384 controls"	"{PMID:Xu 2016:26583794}"	""	"MFRP c.1549C>T, p.R517W"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.119341739G>A"	""	"likely pathogenic"	"ACMG"
"0000874560"	"3"	"70"	"11"	"119215610"	"119215610"	"subst"	"4.1869E-6"	"00000"	"C1QTNF5_000076"	"g.119215610C>T"	""	"{PMID:Mameesh 2017:28511025}"	""	"MFRP c.746G>A, p.(Trp249*)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119344900C>T"	""	"likely pathogenic"	""
"0000874561"	"3"	"70"	"11"	"119215610"	"119215610"	"subst"	"4.1869E-6"	"00000"	"C1QTNF5_000076"	"g.119215610C>T"	""	"{PMID:Mameesh 2017:28511025}"	""	"MFRP c.746G>A, p.(Trp249*)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119344900C>T"	""	"likely pathogenic"	""
"0000874562"	"3"	"70"	"11"	"119215610"	"119215610"	"subst"	"4.1869E-6"	"00000"	"C1QTNF5_000076"	"g.119215610C>T"	""	"{PMID:Mameesh 2017:28511025}"	""	"MFRP c.746G>A, p.(Trp249*)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119344900C>T"	""	"likely pathogenic"	""
"0000874580"	"0"	"70"	"11"	"119215049"	"119215049"	"subst"	"8.21214E-6"	"00000"	"C1QTNF5_000074"	"g.119215049G>T"	""	"{PMID:Matias-Perez 2018:30181649}"	""	"MFRP c.951C>A, p.Tyr317*"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119344339G>T"	""	"likely pathogenic"	""
"0000874581"	"0"	"70"	"11"	"119215049"	"119215049"	"subst"	"8.21214E-6"	"00000"	"C1QTNF5_000074"	"g.119215049G>T"	""	"{PMID:Matias-Perez 2018:30181649}"	""	"MFRP c.951C>A, p.Tyr317*"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119344339G>T"	""	"likely pathogenic"	""
"0000874587"	"0"	"70"	"11"	"119212383"	"119212383"	"subst"	"8.65137E-5"	"00000"	"C1QTNF5_000005"	"g.119212383G>A"	""	"{PMID:Matias-Perez 2018:30181649}"	""	"MFRP c.1615C>T, p.Arg539Cys"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119341673G>A"	""	"likely pathogenic"	""
"0000874588"	"0"	"70"	"11"	"119212383"	"119212383"	"subst"	"8.65137E-5"	"00000"	"C1QTNF5_000005"	"g.119212383G>A"	""	"{PMID:Matias-Perez 2018:30181649}"	""	"MFRP c.1615C>T, p.Arg539Cys"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119341673G>A"	""	"likely pathogenic"	""
"0000874593"	"3"	"90"	"11"	"119216279"	"119216279"	"del"	"0"	"00000"	"C1QTNF5_000020"	"g.119216279del"	""	"{PMID:Morillo Sanchez 2019:31264930}"	""	"MFRP c.498del, p.(Asn167Thrfs*25)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119345569del"	""	"pathogenic"	""
"0000874594"	"3"	"90"	"11"	"119216279"	"119216279"	"del"	"0"	"00000"	"C1QTNF5_000020"	"g.119216279del"	""	"{PMID:Morillo Sanchez 2019:31264930}"	""	"MFRP c.498del, p.(Asn167Thrfs*25)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119345569del"	""	"pathogenic"	""
"0000874595"	"3"	"90"	"11"	"119216279"	"119216279"	"del"	"0"	"00000"	"C1QTNF5_000020"	"g.119216279del"	""	"{PMID:Morillo Sanchez 2019:31264930}"	""	"MFRP c.498del, p.(Asn167Thrfs*25)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119345569del"	""	"pathogenic"	""
"0000874603"	"3"	"70"	"11"	"119216197"	"119216198"	"del"	"0"	"00000"	"C1QTNF5_000080"	"g.119216197_119216198del"	"GnomAD: 0"	"{PMID:Guo 2019:31266062}"	""	"MFRP c.577_578delAG, p.Ser193fs (hom)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119345487_119345488del"	""	"likely pathogenic"	""
"0000874607"	"0"	"70"	"11"	"119215695"	"119215695"	"subst"	"1.32275E-5"	"00000"	"C1QTNF5_000079"	"g.119215695G>A"	"GnomAD: 3/226800"	"{PMID:Guo 2019:31266062}"	""	"MFRP c.661C>T, p.Pro221Ser (het)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119344985G>A"	""	"likely pathogenic"	""
"0000874609"	"3"	"70"	"11"	"119216279"	"119216279"	"del"	"0"	"00000"	"C1QTNF5_000020"	"g.119216279del"	"GnomAD: 31/274316"	"{PMID:Guo 2019:31266062}"	""	"MFRP c.498delC, p.Asn167fs (hom)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119345569del"	""	"likely pathogenic"	""
"0000874617"	"0"	"70"	"11"	"119212671"	"119212671"	"subst"	"1.64417E-5"	"00000"	"C1QTNF5_000072"	"g.119212671C>T"	"GnomAD: 4/243284"	"{PMID:Guo 2019:31266062}"	""	"MFRP c.1411G>A, p.Val471Met (het)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119341961C>T"	""	"likely pathogenic"	""
"0000889664"	"0"	"30"	"11"	"119210479"	"119210479"	"subst"	"0.00113777"	"02330"	"C1QTNF5_000087"	"g.119210479G>A"	""	""	""	"C1QTNF5(NM_015645.5):c.294C>T (p.C98=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000889665"	"0"	"10"	"11"	"119214515"	"119214515"	"subst"	"0.0029747"	"02330"	"C1QTNF5_000088"	"g.119214515G>C"	""	""	""	"C1QTNF5(NM_015645.5):c.-1513+11C>G, MFRP(NM_031433.4):c.1124+11C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000897184"	"0"	"90"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Papastavrou 2020:33055555}"	""	"C1QTNF5 S163R"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"pathogenic (dominant)"	""
"0000897185"	"0"	"90"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Papastavrou 2020:33055555}"	""	"C1QTNF5 S163R"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"pathogenic (dominant)"	""
"0000897186"	"0"	"90"	"11"	"119210284"	"119210284"	"subst"	"0"	"00000"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Papastavrou 2020:33055555}"	""	"C1QTNF5 S163R"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339574G>C"	""	"pathogenic (dominant)"	""
"0000897188"	"20"	"90"	"11"	"119210211"	"119210211"	"subst"	"0"	"00000"	"C1QTNF5_000069"	"g.119210211G>T"	""	"{PMID:De Zaeytijd 2021:33949280}"	""	"C1QTNF5 c.562C>A p.(Pro188Thr)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339501G>T"	""	"pathogenic (dominant)"	""
"0000897189"	"10"	"90"	"11"	"119210211"	"119210211"	"subst"	"0"	"00000"	"C1QTNF5_000069"	"g.119210211G>T"	""	"{PMID:De Zaeytijd 2021:33949280}"	""	"C1QTNF5 c.562C>A p.(Pro188Thr)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339501G>T"	""	"pathogenic (dominant)"	""
"0000897190"	"20"	"90"	"11"	"119210211"	"119210211"	"subst"	"0"	"00000"	"C1QTNF5_000069"	"g.119210211G>T"	""	"{PMID:De Zaeytijd 2021:33949280}"	""	"C1QTNF5 c.562C>A p.(Pro188Thr)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339501G>T"	""	"pathogenic (dominant)"	""
"0000897191"	"10"	"90"	"11"	"119210211"	"119210211"	"subst"	"0"	"00000"	"C1QTNF5_000069"	"g.119210211G>T"	""	"{PMID:De Zaeytijd 2021:33949280}"	""	"C1QTNF5 c.562C>A p.(Pro188Thr)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339501G>T"	""	"pathogenic (dominant)"	""
"0000897192"	"10"	"90"	"11"	"119210211"	"119210211"	"subst"	"0"	"00000"	"C1QTNF5_000069"	"g.119210211G>T"	""	"{PMID:De Zaeytijd 2021:33949280}"	""	"C1QTNF5 c.562C>A p.(Pro188Thr)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339501G>T"	""	"pathogenic (dominant)"	""
"0000897193"	"10"	"90"	"11"	"119210211"	"119210211"	"subst"	"0"	"00000"	"C1QTNF5_000069"	"g.119210211G>T"	""	"{PMID:De Zaeytijd 2021:33949280}"	""	"C1QTNF5 c.562C>A p.(Pro188Thr)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339501G>T"	""	"pathogenic (dominant)"	""
"0000897194"	"10"	"90"	"11"	"119210211"	"119210211"	"subst"	"0"	"00000"	"C1QTNF5_000069"	"g.119210211G>T"	""	"{PMID:De Zaeytijd 2021:33949280}"	""	"C1QTNF5 c.562C>A p.(Pro188Thr)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339501G>T"	""	"pathogenic (dominant)"	""
"0000897195"	"10"	"90"	"11"	"119210211"	"119210211"	"subst"	"0"	"00000"	"C1QTNF5_000069"	"g.119210211G>T"	""	"{PMID:De Zaeytijd 2021:33949280}"	""	"C1QTNF5 c.562C>A p.(Pro188Thr)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339501G>T"	""	"pathogenic (dominant)"	""
"0000897196"	"10"	"90"	"11"	"119210211"	"119210211"	"subst"	"0"	"00000"	"C1QTNF5_000069"	"g.119210211G>T"	""	"{PMID:De Zaeytijd 2021:33949280}"	""	"C1QTNF5 c.562C>A p.(Pro188Thr)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339501G>T"	""	"pathogenic (dominant)"	""
"0000897197"	"10"	"90"	"11"	"119210211"	"119210211"	"subst"	"0"	"00000"	"C1QTNF5_000069"	"g.119210211G>T"	""	"{PMID:De Zaeytijd 2021:33949280}"	""	"C1QTNF5 c.562C>A p.(Pro188Thr)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339501G>T"	""	"pathogenic (dominant)"	""
"0000897198"	"20"	"90"	"11"	"119210211"	"119210211"	"subst"	"0"	"00000"	"C1QTNF5_000069"	"g.119210211G>T"	""	"{PMID:De Zaeytijd 2021:33949280}"	""	"C1QTNF5 c.562C>A p.(Pro188Thr)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339501G>T"	""	"pathogenic (dominant)"	""
"0000897199"	"10"	"90"	"11"	"119210211"	"119210211"	"subst"	"0"	"00000"	"C1QTNF5_000069"	"g.119210211G>T"	""	"{PMID:De Zaeytijd 2021:33949280}"	""	"C1QTNF5 c.562C>A p.(Pro188Thr)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339501G>T"	""	"pathogenic (dominant)"	""
"0000897200"	"10"	"90"	"11"	"119210211"	"119210211"	"subst"	"0"	"00000"	"C1QTNF5_000069"	"g.119210211G>T"	""	"{PMID:De Zaeytijd 2021:33949280}"	""	"C1QTNF5 c.562C>A p.(Pro188Thr)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339501G>T"	""	"pathogenic (dominant)"	""
"0000897201"	"21"	"90"	"11"	"119210211"	"119210211"	"subst"	"0"	"00000"	"C1QTNF5_000069"	"g.119210211G>T"	""	"{PMID:De Zaeytijd 2021:33949280}"	""	"C1QTNF5 c.562C>A p.(Pro188Thr)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339501G>T"	""	"pathogenic (dominant)"	""
"0000897202"	"11"	"90"	"11"	"119210211"	"119210211"	"subst"	"0"	"00000"	"C1QTNF5_000069"	"g.119210211G>T"	""	"{PMID:De Zaeytijd 2021:33949280}"	""	"C1QTNF5 c.562C>A p.(Pro188Thr)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339501G>T"	""	"pathogenic (dominant)"	""
"0000897203"	"11"	"90"	"11"	"119210211"	"119210211"	"subst"	"0"	"00000"	"C1QTNF5_000069"	"g.119210211G>T"	""	"{PMID:De Zaeytijd 2021:33949280}"	""	"C1QTNF5 c.562C>A p.(Pro188Thr)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339501G>T"	""	"pathogenic (dominant)"	""
"0000897204"	"11"	"90"	"11"	"119210211"	"119210211"	"subst"	"0"	"00000"	"C1QTNF5_000069"	"g.119210211G>T"	""	"{PMID:De Zaeytijd 2021:33949280}"	""	"C1QTNF5 c.562C>A p.(Pro188Thr)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339501G>T"	""	"pathogenic (dominant)"	""
"0000897205"	"21"	"90"	"11"	"119210211"	"119210211"	"subst"	"0"	"00000"	"C1QTNF5_000069"	"g.119210211G>T"	""	"{PMID:De Zaeytijd 2021:33949280}"	""	"C1QTNF5 c.562C>A p.(Pro188Thr)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339501G>T"	""	"pathogenic (dominant)"	""
"0000897206"	"21"	"90"	"11"	"119210211"	"119210211"	"subst"	"0"	"00000"	"C1QTNF5_000069"	"g.119210211G>T"	""	"{PMID:De Zaeytijd 2021:33949280}"	""	"C1QTNF5 c.562C>A p.(Pro188Thr)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339501G>T"	""	"pathogenic (dominant)"	""
"0000897207"	"21"	"90"	"11"	"119210211"	"119210211"	"subst"	"0"	"00000"	"C1QTNF5_000069"	"g.119210211G>T"	""	"{PMID:De Zaeytijd 2021:33949280}"	""	"C1QTNF5 c.562C>A p.(Pro188Thr)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339501G>T"	""	"pathogenic (dominant)"	""
"0000897208"	"11"	"90"	"11"	"119210211"	"119210211"	"subst"	"0"	"00000"	"C1QTNF5_000069"	"g.119210211G>T"	""	"{PMID:De Zaeytijd 2021:33949280}"	""	"C1QTNF5 c.562C>A p.(Pro188Thr)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339501G>T"	""	"pathogenic (dominant)"	""
"0000897209"	"11"	"90"	"11"	"119210211"	"119210211"	"subst"	"0"	"00000"	"C1QTNF5_000069"	"g.119210211G>T"	""	"{PMID:De Zaeytijd 2021:33949280}"	""	"C1QTNF5 c.562C>A p.(Pro188Thr)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339501G>T"	""	"pathogenic (dominant)"	""
"0000897210"	"21"	"90"	"11"	"119210211"	"119210211"	"subst"	"0"	"00000"	"C1QTNF5_000069"	"g.119210211G>T"	""	"{PMID:De Zaeytijd 2021:33949280}"	""	"C1QTNF5 c.562C>A p.(Pro188Thr)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339501G>T"	""	"pathogenic (dominant)"	""
"0000897212"	"0"	"90"	"11"	"119210235"	"119210235"	"subst"	"0"	"00000"	"C1QTNF5_000086"	"g.119210235G>C"	""	"{PMID:Kellner 2021:33669876}"	""	"C1QTNF5 c.538C > G, p.(Q180E)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339525G>C"	""	"pathogenic (dominant)"	""
"0000897213"	"0"	"90"	"11"	"119210235"	"119210235"	"subst"	"0"	"00000"	"C1QTNF5_000086"	"g.119210235G>C"	""	"{PMID:Kellner 2021:33669876}"	""	"C1QTNF5 c.538C > G, p.(Q180E)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339525G>C"	""	"pathogenic (dominant)"	""
"0000897214"	"0"	"90"	"11"	"119210235"	"119210235"	"subst"	"0"	"00000"	"C1QTNF5_000086"	"g.119210235G>C"	""	"{PMID:Kellner 2021:33669876}"	""	"C1QTNF5 c.538C > G, p.(Q180E)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339525G>C"	""	"pathogenic (dominant)"	""
"0000897215"	"0"	"90"	"11"	"119210235"	"119210235"	"subst"	"0"	"00000"	"C1QTNF5_000086"	"g.119210235G>C"	""	"{PMID:Kellner 2021:33669876}"	""	"C1QTNF5 c.538C > G, p.(Q180E)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339525G>C"	""	"pathogenic (dominant)"	""
"0000897216"	"0"	"90"	"11"	"119210235"	"119210235"	"subst"	"0"	"00000"	"C1QTNF5_000086"	"g.119210235G>C"	""	"{PMID:Kellner 2021:33669876}"	""	"C1QTNF5 c.538C > G, p.(Q180E)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339525G>C"	""	"pathogenic (dominant)"	""
"0000897217"	"0"	"90"	"11"	"119210235"	"119210235"	"subst"	"0"	"00000"	"C1QTNF5_000086"	"g.119210235G>C"	""	"{PMID:Kellner 2021:33669876}"	""	"C1QTNF5 c.538C > G, p.(Q180E)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339525G>C"	""	"pathogenic (dominant)"	""
"0000905552"	"10"	"70"	"11"	"119210217"	"119210217"	"subst"	"0"	"00000"	"C1QTNF5_000050"	"g.119210217G>A"	""	"{PMID:Borooah 2018:30451557}"	""	""	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339507G>A"	""	"likely pathogenic"	""
"0000905553"	"10"	"70"	"11"	"119210204"	"119210204"	"subst"	"0"	"00000"	"C1QTNF5_000049"	"g.119210204G>C"	""	"{PMID:Borooah 2018:30451557}"	""	""	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339494G>C"	""	"likely pathogenic"	""
"0000905554"	"10"	"70"	"11"	"119210217"	"119210217"	"subst"	"0"	"00000"	"C1QTNF5_000050"	"g.119210217G>A"	""	"{PMID:Borooah 2018:30451557}"	""	""	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339507G>A"	""	"likely pathogenic"	""
"0000905555"	"10"	"70"	"11"	"119210204"	"119210204"	"subst"	"0"	"00000"	"C1QTNF5_000049"	"g.119210204G>C"	""	"{PMID:Borooah 2018:30451557}"	""	""	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339494G>C"	""	"likely pathogenic"	""
"0000905556"	"10"	"70"	"11"	"119210217"	"119210217"	"subst"	"0"	"00000"	"C1QTNF5_000050"	"g.119210217G>A"	""	"{PMID:Borooah 2018:30451557}"	""	""	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339507G>A"	""	"likely pathogenic"	""
"0000905557"	"10"	"70"	"11"	"119210204"	"119210204"	"subst"	"0"	"00000"	"C1QTNF5_000049"	"g.119210204G>C"	""	"{PMID:Borooah 2018:30451557}"	""	""	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.119339494G>C"	""	"likely pathogenic"	""
"0000913519"	"0"	"70"	"11"	"119213368"	"119213369"	"del"	"0"	"02327"	"C1QTNF5_000089"	"g.119213368_119213369del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000913520"	"0"	"30"	"11"	"119215433"	"119215433"	"subst"	"0.000287526"	"02330"	"C1QTNF5_000090"	"g.119215433C>T"	""	""	""	"MFRP(NM_031433.4):c.807G>A (p.Q269=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000929810"	"0"	"90"	"11"	"119214525"	"119214525"	"subst"	"6.15385E-5"	"02327"	"MFRP_000009"	"g.119214525C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000929811"	"0"	"90"	"11"	"119214559"	"119214560"	"del"	"5.74298E-5"	"02327"	"C1QTNF5_000091"	"g.119214559_119214560del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000929812"	"0"	"50"	"11"	"119215461"	"119215461"	"subst"	"4.10937E-6"	"02327"	"C1QTNF5_000092"	"g.119215461C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000949605"	"0"	"50"	"11"	"119210455"	"119210455"	"subst"	"0"	"02330"	"RNF26_000008"	"g.119210455G>T"	""	""	""	"C1QTNF5(NM_015645.5):c.318C>A (p.F106L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000949606"	"0"	"30"	"11"	"119216975"	"119216975"	"subst"	"0.000174008"	"02330"	"C1QTNF5_000093"	"g.119216975T>C"	""	""	""	"C1QTNF5(NM_015645.5):c.-2480+7A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000957996"	"1"	"90"	"11"	"119210235"	"119210235"	"subst"	"0"	"00006"	"C1QTNF5_000086"	"g.119210235G>C"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PS3, PP1_STRONG"	"Germline"	""	""	"0"	""	""	"g.119339525G>C"	""	"pathogenic (dominant)"	"ACMG"
"0000957997"	"1"	"90"	"11"	"119210235"	"119210235"	"subst"	"0"	"00006"	"C1QTNF5_000086"	"g.119210235G>C"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PS3, PP1_STRONG"	"Germline"	""	""	"0"	""	""	"g.119339525G>C"	""	"pathogenic (dominant)"	"ACMG"
"0000958020"	"1"	"90"	"11"	"119210284"	"119210284"	"subst"	"0"	"00006"	"C1QTNF5_000052"	"g.119210284G>C"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PS1, PM2, PP5_STRONG"	"Germline"	""	""	"0"	""	""	"g.119339574G>C"	"2126"	"pathogenic (dominant)"	"ACMG"
"0000958345"	"0"	"90"	"11"	"119210284"	"119210284"	"subst"	"0"	"00006"	"RNF26_000002"	"g.119210284G>T"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PS1, PM2, PP5_STRONG"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.119339574G>T"	""	"pathogenic (dominant)"	"ACMG"
"0000966202"	"0"	"30"	"11"	"119212341"	"119212341"	"subst"	"0"	"02330"	"RNF26_000009"	"g.119212341G>A"	""	""	""	"MFRP(NM_031433.4):c.1657C>T (p.L553=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000966206"	"0"	"90"	"11"	"119216858"	"119216858"	"subst"	"0"	"02327"	"C1QTNF5_000094"	"g.119216858G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000979402"	"0"	"50"	"11"	"119212383"	"119212383"	"subst"	"8.65137E-5"	"01804"	"C1QTNF5_000005"	"g.119212383G>A"	""	""	""	"MFRP(NM_031433.4):c.1615C>T (p.(Arg539Cys), p.R539C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000979403"	"0"	"50"	"11"	"119212576"	"119212576"	"subst"	"0"	"01804"	"RNF26_000010"	"g.119212576G>A"	""	""	""	"MFRP(NM_031433.4):c.1506C>T (p.(Ser502=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000979404"	"0"	"70"	"11"	"119215385"	"119215385"	"subst"	"4.10492E-6"	"01804"	"C1QTNF5_000029"	"g.119215385A>T"	""	""	""	"MFRP(NM_031433.4):c.855T>A (p.(Cys285Ter))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000979405"	"0"	"90"	"11"	"119216279"	"119216279"	"del"	"0"	"01804"	"C1QTNF5_000020"	"g.119216279del"	""	""	""	"MFRP(NM_031433.4):c.498del (p.(Asn167ThrfsTer25)), MFRP(NM_031433.4):c.498delC (p.N167Tfs*25)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000998817"	"0"	"30"	"11"	"119210358"	"119210358"	"subst"	"4.54733E-5"	"01804"	"RNF26_000011"	"g.119210358C>T"	""	""	""	"C1QTNF5(NM_001278431.1):c.415G>A (p.(Val139Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000998818"	"0"	"30"	"11"	"119210896"	"119210896"	"subst"	"3.81272E-5"	"01804"	"RNF26_000012"	"g.119210896G>T"	""	""	""	"C1QTNF5(NM_001278431.1):c.212C>A (p.(Pro71Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001007031"	"0"	"90"	"11"	"119210284"	"119210284"	"subst"	"0"	"03779"	"C1QTNF5_000052"	"g.119210284G>C"	""	""	""	""	""	"CLASSIFICATION record"	""	"rs111033578"	"0"	""	""	""	""	"pathogenic"	""
"0001025922"	"0"	"90"	"11"	"119214628"	"119214628"	"subst"	"2.46202E-5"	"02327"	"C1QTNF5_000056"	"g.119214628A>G"	""	""	""	"MFRP(NM_031433.3):c.1022T>C (p.L341P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes C1QTNF5
## Count = 546
"{{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}}"
"0000246996"	"00025897"	"10"	"-5706"	"0"	"-5706"	"0"	"c.-5706T>C"	"r.(?)"	"p.(=)"	""
"0000246996"	"00003652"	"10"	"-2565"	"0"	"-2565"	"0"	"c.-2565T>C"	"r.(?)"	"p.(=)"	""
"0000247017"	"00025897"	"10"	"-5638"	"0"	"-5638"	"0"	"c.-5638T>C"	"r.(?)"	"p.(=)"	""
"0000247017"	"00003652"	"10"	"-2497"	"0"	"-2497"	"0"	"c.-2497T>C"	"r.(?)"	"p.(=)"	""
"0000247021"	"00025897"	"10"	"-3646"	"0"	"-3646"	"0"	"c.-3646T>C"	"r.(?)"	"p.(=)"	""
"0000247021"	"00003652"	"10"	"-1662"	"18"	"-1662"	"18"	"c.-1662+18T>C"	"r.(=)"	"p.(=)"	""
"0000248633"	"00025897"	"10"	"-4870"	"0"	"-4870"	"0"	"c.-4870T>C"	"r.(?)"	"p.(=)"	""
"0000248633"	"00003652"	"10"	"-2097"	"0"	"-2097"	"0"	"c.-2097T>C"	"r.(?)"	"p.(=)"	""
"0000263831"	"00025897"	"10"	"-1002"	"0"	"-1002"	"0"	"c.-1002G>A"	"r.(?)"	"p.(=)"	""
"0000263831"	"00003652"	"10"	"-1002"	"0"	"-1002"	"0"	"c.-1002G>A"	"r.(?)"	"p.(=)"	""
"0000263832"	"00025897"	"10"	"-1214"	"0"	"-1214"	"0"	"c.-1214G>A"	"r.(?)"	"p.(=)"	""
"0000263832"	"00003652"	"10"	"-1130"	"0"	"-1130"	"0"	"c.-1130G>A"	"r.(?)"	"p.(=)"	""
"0000263833"	"00025897"	"30"	"-2080"	"0"	"-2080"	"0"	"c.-2080G>A"	"r.(?)"	"p.(=)"	""
"0000263833"	"00003652"	"30"	"-1381"	"-4"	"-1381"	"-4"	"c.-1381-4G>A"	"r.spl?"	"p.?"	""
"0000263834"	"00025897"	"50"	"-3275"	"0"	"-3275"	"0"	"c.-3275C>A"	"r.(?)"	"p.(=)"	""
"0000263834"	"00003652"	"50"	"-1623"	"0"	"-1623"	"0"	"c.-1623C>A"	"r.(?)"	"p.(=)"	""
"0000263835"	"00025897"	"10"	"-4115"	"0"	"-4115"	"0"	"c.-4115C>T"	"r.(?)"	"p.(=)"	""
"0000263835"	"00003652"	"10"	"-1864"	"-9"	"-1864"	"-9"	"c.-1864-9C>T"	"r.(=)"	"p.(=)"	""
"0000263836"	"00025897"	"10"	"-5471"	"0"	"-5471"	"0"	"c.-5471C>T"	"r.(?)"	"p.(=)"	""
"0000263836"	"00003652"	"10"	"-2442"	"0"	"-2442"	"0"	"c.-2442C>T"	"r.(?)"	"p.(=)"	""
"0000266359"	"00025897"	"10"	"-5143"	"0"	"-5143"	"0"	"c.-5143G>A"	"r.(?)"	"p.(=)"	""
"0000266359"	"00003652"	"10"	"-2231"	"0"	"-2231"	"0"	"c.-2231G>A"	"r.(?)"	"p.(=)"	""
"0000272256"	"00025897"	"30"	"-2362"	"0"	"-2362"	"0"	"c.-2362C>T"	"r.(?)"	"p.(=)"	""
"0000272256"	"00003652"	"30"	"-1512"	"-10"	"-1512"	"-10"	"c.-1512-10C>T"	"r.(=)"	"p.(=)"	""
"0000272257"	"00025897"	"30"	"-4115"	"0"	"-4115"	"0"	"c.-4115C>T"	"r.(?)"	"p.(=)"	""
"0000272257"	"00003652"	"30"	"-1864"	"-9"	"-1864"	"-9"	"c.-1864-9C>T"	"r.(=)"	"p.(=)"	""
"0000272258"	"00025897"	"70"	"-4355"	"0"	"-4355"	"0"	"c.-4355A>G"	"r.(?)"	"p.(=)"	""
"0000272258"	"00003652"	"70"	"-1995"	"-2"	"-1995"	"-2"	"c.-1995-2A>G"	"r.spl?"	"p.?"	""
"0000272259"	"00025897"	"30"	"-4760"	"0"	"-4760"	"0"	"c.-4760C>T"	"r.(?)"	"p.(=)"	""
"0000272259"	"00003652"	"30"	"-1996"	"9"	"-1996"	"9"	"c.-1996+9C>T"	"r.(=)"	"p.(=)"	""
"0000279741"	"00025897"	"30"	"341"	"0"	"341"	"0"	"c.341G>A"	"r.(?)"	"p.(Arg114Gln)"	""
"0000279741"	"00003652"	"30"	"341"	"0"	"341"	"0"	"c.341G>A"	"r.(?)"	"p.(Arg114Gln)"	""
"0000279742"	"00025897"	"10"	"371"	"0"	"371"	"0"	"c.371C>T"	"r.(?)"	"p.(Pro124Leu)"	""
"0000279742"	"00003652"	"10"	"371"	"0"	"371"	"0"	"c.371C>T"	"r.(?)"	"p.(Pro124Leu)"	""
"0000279748"	"00025897"	"10"	"-4925"	"0"	"-4925"	"0"	"c.-4925A>G"	"r.(?)"	"p.(=)"	""
"0000279748"	"00003652"	"10"	"-2152"	"0"	"-2152"	"0"	"c.-2152A>G"	"r.(?)"	"p.(=)"	""
"0000291769"	"00025897"	"10"	"-1958"	"0"	"-1958"	"0"	"c.-1958G>T"	"r.(?)"	"p.(=)"	""
"0000291769"	"00003652"	"10"	"-1263"	"0"	"-1263"	"0"	"c.-1263G>T"	"r.(?)"	"p.(=)"	""
"0000291770"	"00025897"	"30"	"-1263"	"0"	"-1263"	"0"	"c.-1263C>T"	"r.(?)"	"p.(=)"	""
"0000291770"	"00003652"	"30"	"-1179"	"0"	"-1179"	"0"	"c.-1179C>T"	"r.(?)"	"p.(=)"	""
"0000291771"	"00025897"	"30"	"-1002"	"0"	"-1002"	"0"	"c.-1002G>A"	"r.(?)"	"p.(=)"	""
"0000291771"	"00003652"	"30"	"-1002"	"0"	"-1002"	"0"	"c.-1002G>A"	"r.(?)"	"p.(=)"	""
"0000291772"	"00025897"	"30"	"-4867"	"0"	"-4867"	"0"	"c.-4867A>C"	"r.(?)"	"p.(=)"	""
"0000291772"	"00003652"	"30"	"-2094"	"0"	"-2094"	"0"	"c.-2094A>C"	"r.(?)"	"p.(=)"	""
"0000291773"	"00025897"	"30"	"-4781"	"0"	"-4781"	"0"	"c.-4781G>T"	"r.(?)"	"p.(=)"	""
"0000291773"	"00003652"	"30"	"-2008"	"0"	"-2008"	"0"	"c.-2008G>T"	"r.(?)"	"p.(=)"	""
"0000291777"	"00025897"	"30"	"-3680"	"0"	"-3680"	"0"	"c.-3680A>C"	"r.(?)"	"p.(=)"	""
"0000291777"	"00003652"	"30"	"-1678"	"0"	"-1678"	"0"	"c.-1678A>C"	"r.(?)"	"p.(=)"	""
"0000337039"	"00025897"	"10"	"-1942"	"0"	"-1942"	"0"	"c.-1942G>A"	"r.(?)"	"p.(=)"	""
"0000337039"	"00003652"	"10"	"-1250"	"3"	"-1250"	"3"	"c.-1250+3G>A"	"r.spl?"	"p.?"	""
"0000337040"	"00025897"	"10"	"-5893"	"0"	"-5893"	"0"	"c.-5893G>A"	"r.(?)"	"p.(=)"	""
"0000337040"	"00003652"	"10"	"-2667"	"0"	"-2667"	"0"	"c.-2667G>A"	"r.(?)"	"p.(=)"	""
"0000337041"	"00025897"	"10"	"-5950"	"0"	"-5950"	"0"	"c.-5950C>T"	"r.(?)"	"p.(=)"	""
"0000337041"	"00003652"	"10"	"-2724"	"0"	"-2724"	"0"	"c.-2724C>T"	"r.(?)"	"p.(=)"	""
"0000340804"	"00025897"	"10"	"-4870"	"0"	"-4870"	"0"	"c.-4870T>C"	"r.(?)"	"p.(=)"	""
"0000340804"	"00003652"	"10"	"-2097"	"0"	"-2097"	"0"	"c.-2097T>C"	"r.(?)"	"p.(=)"	""
"0000340849"	"00025897"	"10"	"-3685"	"0"	"-3685"	"0"	"c.-3685G>A"	"r.(?)"	"p.(=)"	""
"0000340849"	"00003652"	"10"	"-1683"	"0"	"-1683"	"0"	"c.-1683G>A"	"r.(?)"	"p.(=)"	""
"0000343075"	"00025897"	"70"	"-1022"	"0"	"-1022"	"0"	"c.-1022C>T"	"r.(?)"	"p.(=)"	""
"0000343075"	"00003652"	"70"	"-1022"	"0"	"-1022"	"0"	"c.-1022C>T"	"r.(?)"	"p.(=)"	""
"0000343076"	"00025897"	"50"	"-1021"	"0"	"-1021"	"0"	"c.-1021G>T"	"r.(?)"	"p.(=)"	""
"0000343076"	"00003652"	"50"	"-1021"	"0"	"-1021"	"0"	"c.-1021G>T"	"r.(?)"	"p.(=)"	""
"0000344342"	"00025897"	"90"	"-4024"	"0"	"-4024"	"0"	"c.-4024T>A"	"r.(?)"	"p.(=)"	""
"0000344342"	"00003652"	"90"	"-1782"	"0"	"-1782"	"0"	"c.-1782T>A"	"r.(?)"	"p.(=)"	""
"0000350283"	"00025897"	"10"	"-5143"	"0"	"-5143"	"0"	"c.-5143G>A"	"r.(?)"	"p.(=)"	""
"0000350283"	"00003652"	"10"	"-2231"	"0"	"-2231"	"0"	"c.-2231G>A"	"r.(?)"	"p.(=)"	""
"0000542688"	"00025897"	"30"	"567"	"0"	"567"	"0"	"c.567C>T"	"r.(?)"	"p.(Ala189=)"	""
"0000542688"	"00003652"	"30"	"567"	"0"	"567"	"0"	"c.567C>T"	"r.(?)"	"p.(Ala189=)"	""
"0000542689"	"00025897"	"90"	"489"	"0"	"489"	"0"	"c.489C>A"	"r.(?)"	"p.(Ser163Arg)"	""
"0000542689"	"00003652"	"90"	"489"	"0"	"489"	"0"	"c.489C>A"	"r.(?)"	"p.(Ser163Arg)"	""
"0000542690"	"00025897"	"30"	"215"	"-4"	"215"	"-4"	"c.215-4G>C"	"r.spl?"	"p.?"	""
"0000542690"	"00003652"	"30"	"215"	"-4"	"215"	"-4"	"c.215-4G>C"	"r.spl?"	"p.?"	""
"0000542691"	"00025897"	"50"	"76"	"0"	"76"	"0"	"c.76A>G"	"r.(?)"	"p.(Ser26Gly)"	""
"0000542691"	"00003652"	"50"	"76"	"0"	"76"	"0"	"c.76A>G"	"r.(?)"	"p.(Ser26Gly)"	""
"0000542692"	"00025897"	"50"	"71"	"0"	"71"	"0"	"c.71T>C"	"r.(?)"	"p.(Ile24Thr)"	""
"0000542692"	"00003652"	"50"	"71"	"0"	"71"	"0"	"c.71T>C"	"r.(?)"	"p.(Ile24Thr)"	""
"0000542694"	"00025897"	"30"	"-1987"	"0"	"-1987"	"0"	"c.-1987G>A"	"r.(?)"	"p.(=)"	""
"0000542694"	"00003652"	"30"	"-1292"	"0"	"-1292"	"0"	"c.-1292G>A"	"r.(?)"	"p.(=)"	""
"0000542695"	"00025897"	"30"	"-3668"	"0"	"-3668"	"0"	"c.-3668A>G"	"r.(?)"	"p.(=)"	""
"0000542695"	"00003652"	"30"	"-1666"	"0"	"-1666"	"0"	"c.-1666A>G"	"r.(?)"	"p.(=)"	""
"0000542696"	"00025897"	"10"	"-4760"	"0"	"-4760"	"0"	"c.-4760C>T"	"r.(?)"	"p.(=)"	""
"0000542696"	"00003652"	"10"	"-1996"	"9"	"-1996"	"9"	"c.-1996+9C>T"	"r.(=)"	"p.(=)"	""
"0000542697"	"00025897"	"50"	"-4809"	"0"	"-4809"	"0"	"c.-4809C>T"	"r.(?)"	"p.(=)"	""
"0000542697"	"00003652"	"50"	"-2036"	"0"	"-2036"	"0"	"c.-2036C>T"	"r.(?)"	"p.(=)"	""
"0000542698"	"00025897"	"30"	"-4914"	"0"	"-4914"	"0"	"c.-4914C>G"	"r.(?)"	"p.(=)"	""
"0000542698"	"00003652"	"30"	"-2141"	"0"	"-2141"	"0"	"c.-2141C>G"	"r.(?)"	"p.(=)"	""
"0000542699"	"00025897"	"50"	"-4914"	"0"	"-4914"	"0"	"c.-4914C>G"	"r.(?)"	"p.(=)"	""
"0000542699"	"00003652"	"50"	"-2141"	"0"	"-2141"	"0"	"c.-2141C>G"	"r.(?)"	"p.(=)"	""
"0000542700"	"00025897"	"90"	"-4912"	"0"	"-4912"	"0"	"c.-4912del"	"r.(?)"	"p.(=)"	""
"0000542700"	"00003652"	"90"	"-2139"	"0"	"-2139"	"0"	"c.-2139del"	"r.(?)"	"p.(=)"	""
"0000542701"	"00025897"	"50"	"-5214"	"0"	"-5214"	"0"	"c.-5214C>T"	"r.(?)"	"p.(=)"	""
"0000542701"	"00003652"	"50"	"-2302"	"0"	"-2302"	"0"	"c.-2302C>T"	"r.(?)"	"p.(=)"	""
"0000542702"	"00025897"	"30"	"-5263"	"0"	"-5263"	"0"	"c.-5263C>A"	"r.(?)"	"p.(=)"	""
"0000542702"	"00003652"	"30"	"-2351"	"0"	"-2351"	"0"	"c.-2351C>A"	"r.(?)"	"p.(=)"	""
"0000542703"	"00025897"	"90"	"-5465"	"0"	"-5465"	"0"	"c.-5465G>A"	"r.(?)"	"p.(=)"	""
"0000542703"	"00003652"	"90"	"-2436"	"0"	"-2436"	"0"	"c.-2436G>A"	"r.(?)"	"p.(=)"	""
"0000542704"	"00025897"	"30"	"-5471"	"0"	"-5471"	"0"	"c.-5471C>T"	"r.(?)"	"p.(=)"	""
"0000542704"	"00003652"	"30"	"-2442"	"0"	"-2442"	"0"	"c.-2442C>T"	"r.(?)"	"p.(=)"	""
"0000542705"	"00025897"	"30"	"-5475"	"0"	"-5475"	"0"	"c.-5475G>A"	"r.(?)"	"p.(=)"	""
"0000542705"	"00003652"	"30"	"-2446"	"0"	"-2446"	"0"	"c.-2446G>A"	"r.(?)"	"p.(=)"	""
"0000613100"	"00025897"	"50"	"212"	"0"	"212"	"0"	"c.212C>G"	"r.(?)"	"p.(Pro71Arg)"	""
"0000613100"	"00003652"	"50"	"212"	"0"	"212"	"0"	"c.212C>G"	"r.(?)"	"p.(Pro71Arg)"	""
"0000613101"	"00025897"	"30"	"-1925"	"0"	"-1925"	"0"	"c.-1925G>A"	"r.(?)"	"p.(=)"	""
"0000613101"	"00003652"	"30"	"-1250"	"20"	"-1250"	"20"	"c.-1250+20G>A"	"r.(=)"	"p.(=)"	""
"0000613102"	"00025897"	"30"	"-2080"	"0"	"-2080"	"0"	"c.-2080G>A"	"r.(?)"	"p.(=)"	""
"0000613102"	"00003652"	"30"	"-1381"	"-4"	"-1381"	"-4"	"c.-1381-4G>A"	"r.spl?"	"p.?"	""
"0000613103"	"00025897"	"50"	"-3275"	"0"	"-3275"	"0"	"c.-3275C>A"	"r.(?)"	"p.(=)"	""
"0000613103"	"00003652"	"50"	"-1623"	"0"	"-1623"	"0"	"c.-1623C>A"	"r.(?)"	"p.(=)"	""
"0000613104"	"00025897"	"30"	"-4114"	"0"	"-4114"	"0"	"c.-4114A>C"	"r.(?)"	"p.(=)"	""
"0000613104"	"00003652"	"30"	"-1864"	"-8"	"-1864"	"-8"	"c.-1864-8A>C"	"r.(=)"	"p.(=)"	""
"0000613105"	"00025897"	"30"	"-5474"	"0"	"-5474"	"0"	"c.-5474C>G"	"r.(?)"	"p.(=)"	""
"0000613105"	"00003652"	"30"	"-2445"	"0"	"-2445"	"0"	"c.-2445C>G"	"r.(?)"	"p.(=)"	""
"0000622576"	"00025897"	"30"	"-1140"	"0"	"-1140"	"0"	"c.-1140G>A"	"r.(?)"	"p.(=)"	""
"0000622576"	"00003652"	"30"	"-1121"	"-19"	"-1121"	"-19"	"c.-1121-19G>A"	"r.(=)"	"p.(=)"	""
"0000648124"	"00003652"	"50"	"-2008"	"0"	"-2008"	"0"	"c.-2008G>T"	"r.(=)"	"p.(=)"	""
"0000679080"	"00025897"	"50"	"-5145"	"0"	"-5145"	"0"	"c.-5145G>T"	"r.(?)"	"p.(=)"	""
"0000679080"	"00003652"	"50"	"-2233"	"0"	"-2233"	"0"	"c.-2233G>T"	"r.(?)"	"p.(=)"	""
"0000690964"	"00025897"	"30"	"-3750"	"0"	"-3750"	"0"	"c.-3750C>A"	"r.(?)"	"p.(=)"	""
"0000690964"	"00003652"	"30"	"-1738"	"-10"	"-1738"	"-10"	"c.-1738-10C>A"	"r.(=)"	"p.(=)"	""
"0000690965"	"00025897"	"30"	"-4329"	"0"	"-4329"	"0"	"c.-4329C>A"	"r.(?)"	"p.(=)"	""
"0000690965"	"00003652"	"30"	"-1971"	"0"	"-1971"	"0"	"c.-1971C>A"	"r.(?)"	"p.(=)"	""
"0000710805"	"00003652"	"30"	"66"	"0"	"68"	"0"	"c.66_68del"	"r.(?)"	"p.(Asn22del)"	""
"0000713388"	"00003652"	"90"	"-1682"	"0"	"-1682"	"0"	"c.-1682C>T"	"r.(=)"	"p.(=)"	""
"0000713416"	"00025897"	"90"	"569"	"0"	"569"	"0"	"c.569C>G"	"r.(?)"	"p.(Ser190Trp)"	""
"0000713416"	"00003652"	"90"	"569"	"0"	"569"	"0"	"c.569C>G"	"r.(?)"	"p.(Ser190Trp)"	""
"0000713763"	"00025897"	"90"	"556"	"0"	"556"	"0"	"c.556C>T"	"r.(?)"	"p.(Pro186Ser)"	""
"0000713763"	"00003652"	"90"	"556"	"0"	"556"	"0"	"c.556C>T"	"r.(?)"	"p.(Pro186Ser)"	""
"0000723263"	"00025897"	"50"	"163"	"0"	"171"	"0"	"c.163_171del"	"r.(?)"	"p.(Arg55_Gly57del)"	""
"0000723263"	"00003652"	"50"	"163"	"0"	"171"	"0"	"c.163_171del"	"r.(?)"	"p.(Arg55_Gly57del)"	""
"0000723264"	"00025897"	"50"	"-944"	"0"	"-944"	"0"	"c.-944A>C"	"r.(?)"	"p.(=)"	""
"0000723264"	"00003652"	"50"	"-944"	"0"	"-944"	"0"	"c.-944A>C"	"r.(?)"	"p.(=)"	""
"0000723265"	"00025897"	"70"	"-1022"	"0"	"-1022"	"0"	"c.-1022C>T"	"r.(?)"	"p.(=)"	""
"0000723265"	"00003652"	"70"	"-1022"	"0"	"-1022"	"0"	"c.-1022C>T"	"r.(?)"	"p.(=)"	""
"0000723266"	"00025897"	"50"	"-2327"	"0"	"-2327"	"0"	"c.-2327C>G"	"r.(?)"	"p.(=)"	""
"0000723266"	"00003652"	"50"	"-1487"	"0"	"-1487"	"0"	"c.-1487C>G"	"r.(?)"	"p.(=)"	""
"0000723267"	"00025897"	"50"	"-3267"	"0"	"-3267"	"0"	"c.-3267T>C"	"r.(?)"	"p.(=)"	""
"0000723267"	"00003652"	"50"	"-1615"	"0"	"-1615"	"0"	"c.-1615T>C"	"r.(?)"	"p.(=)"	""
"0000723268"	"00025897"	"90"	"-4912"	"0"	"-4912"	"0"	"c.-4912del"	"r.(?)"	"p.(=)"	""
"0000723268"	"00003652"	"90"	"-2139"	"0"	"-2139"	"0"	"c.-2139del"	"r.(?)"	"p.(=)"	""
"0000730688"	"00003652"	"90"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	"15"
"0000734713"	"00003652"	"50"	"583"	"0"	"583"	"0"	"c.583dup"	"r.(?)"	"p.(Ala195Glyfs*8)"	""
"0000736819"	"00003652"	"50"	"163"	"0"	"171"	"0"	"c.163_171dup"	"r.(?)"	"p.(Arg55_Gly57dup)"	""
"0000760338"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>A"	"r.(?)"	"p.(Ser163Arg)"	""
"0000783264"	"00003652"	"90"	"489"	"0"	"489"	"0"	"c.489C>A"	"r.(?)"	"p.(Ser163Arg)"	""
"0000783992"	"00003652"	"50"	"66"	"0"	"68"	"0"	"c.66_68del"	"r.(?)"	"p.(Asn22del)"	""
"0000791541"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>A"	"r.(?)"	"p.(Ser163Arg)"	"15"
"0000791542"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>A"	"r.(?)"	"p.(Ser163Arg)"	"15"
"0000791543"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>A"	"r.(?)"	"p.(Ser163Arg)"	"15"
"0000791544"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>A"	"r.(?)"	"p.(Ser163Arg)"	"15"
"0000804933"	"00025897"	"50"	"-1095"	"0"	"-1095"	"0"	"c.-1095G>C"	"r.(?)"	"p.(=)"	""
"0000804933"	"00003652"	"50"	"-1095"	"0"	"-1095"	"0"	"c.-1095G>C"	"r.(?)"	"p.(=)"	""
"0000804934"	"00025897"	"30"	"-3998"	"0"	"-3998"	"0"	"c.-3998G>A"	"r.(?)"	"p.(=)"	""
"0000804934"	"00003652"	"30"	"-1756"	"0"	"-1756"	"0"	"c.-1756G>A"	"r.(?)"	"p.(=)"	""
"0000804935"	"00003652"	"90"	"-2339"	"0"	"-2339"	"0"	"c.-2339del"	"r.(?)"	"p.(=)"	""
"0000804936"	"00025897"	"90"	"-5465"	"0"	"-5465"	"0"	"c.-5465G>A"	"r.(?)"	"p.(=)"	""
"0000804936"	"00003652"	"90"	"-2436"	"0"	"-2436"	"0"	"c.-2436G>A"	"r.(?)"	"p.(=)"	""
"0000812635"	"00003652"	"90"	"585"	"0"	"585"	"0"	"c.585dup"	"r.(?)"	"p.(Met196Hisfs*7)"	""
"0000815273"	"00003652"	"70"	"563"	"0"	"563"	"0"	"c.563C>T"	"r.(?)"	"p.(Pro188Leu)"	""
"0000815274"	"00003652"	"70"	"563"	"0"	"563"	"0"	"c.563C>T"	"r.(?)"	"p.(Pro188Leu)"	""
"0000815275"	"00003652"	"70"	"563"	"0"	"563"	"0"	"c.563C>T"	"r.(?)"	"p.(Pro188Leu)"	""
"0000815276"	"00003652"	"70"	"563"	"0"	"563"	"0"	"c.563C>T"	"r.(?)"	"p.(Pro188Leu)"	""
"0000815508"	"00025897"	"50"	"580"	"0"	"580"	"0"	"c.580G>A"	"r.(?)"	"p.(Gly194Arg)"	""
"0000815508"	"00003652"	"50"	"580"	"0"	"580"	"0"	"c.580G>A"	"r.(?)"	"p.(Gly194Arg)"	""
"0000821167"	"00025897"	"70"	"556"	"0"	"556"	"0"	"c.556C>T"	"r.(?)"	"p.(Pro186Ser)"	""
"0000821167"	"00003652"	"70"	"556"	"0"	"556"	"0"	"c.556C>T"	"r.(?)"	"p.(Pro186Ser)"	""
"0000821296"	"00003652"	"70"	"-1682"	"0"	"-1682"	"0"	"c.-1682C>T"	"r.(=)"	"p.(=)"	""
"0000821528"	"00025897"	"70"	"569"	"0"	"569"	"0"	"c.569C>G"	"r.(?)"	"p.(Ser190Trp)"	""
"0000821528"	"00003652"	"70"	"569"	"0"	"569"	"0"	"c.569C>G"	"r.(?)"	"p.(Ser190Trp)"	""
"0000821574"	"00003652"	"70"	"-8723"	"0"	"-2583"	"41"	"c.-8723_-2583+41del"	"r.(=)"	"p.(=)"	""
"0000852787"	"00025897"	"50"	"606"	"0"	"606"	"0"	"c.606G>C"	"r.(?)"	"p.(Glu202Asp)"	""
"0000852787"	"00003652"	"50"	"606"	"0"	"606"	"0"	"c.606G>C"	"r.(?)"	"p.(Glu202Asp)"	""
"0000852788"	"00025897"	"90"	"-3730"	"0"	"-3730"	"0"	"c.-3730dup"	"r.(?)"	"p.(=)"	""
"0000852788"	"00003652"	"90"	"-1728"	"0"	"-1728"	"0"	"c.-1728dup"	"r.(?)"	"p.(=)"	""
"0000862341"	"00025897"	"30"	"-3175"	"0"	"-3175"	"0"	"c.-3175C>T"	"r.(?)"	"p.(=)"	""
"0000862341"	"00003652"	"30"	"-1523"	"0"	"-1523"	"0"	"c.-1523C>T"	"r.(?)"	"p.(=)"	""
"0000873805"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873805"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873806"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873806"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873807"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873807"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873808"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873808"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873809"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873809"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873810"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873810"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873811"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873811"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873812"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873812"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873813"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873813"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873814"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873814"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873815"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873815"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873816"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873816"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873817"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873817"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873818"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873818"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873819"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873819"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873820"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873820"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873821"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873821"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873822"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873822"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873823"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873823"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873824"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873824"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873825"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873825"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873826"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873826"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873827"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873827"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873828"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873828"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873857"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873857"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873858"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873858"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873859"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873859"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873860"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873860"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873861"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873861"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873862"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873862"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873863"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873863"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873864"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873864"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873865"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873865"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873866"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873866"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873867"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873867"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873868"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873868"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873869"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873869"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873870"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873870"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873871"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873871"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873872"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873872"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873873"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873873"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873874"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873874"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873875"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873875"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873876"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873876"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873877"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873877"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873878"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873878"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873879"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873879"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873880"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873880"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873881"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873881"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873882"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873882"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873883"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873883"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873884"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873884"	"00003652"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873933"	"00025897"	"70"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873933"	"00003652"	"90"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873934"	"00025897"	"90"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873934"	"00003652"	"90"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873935"	"00025897"	"90"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873935"	"00003652"	"90"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873936"	"00025897"	"90"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873936"	"00003652"	"90"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873937"	"00025897"	"90"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873937"	"00003652"	"90"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873938"	"00025897"	"90"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873938"	"00003652"	"90"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873939"	"00025897"	"90"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873939"	"00003652"	"90"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873940"	"00025897"	"90"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873940"	"00003652"	"90"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873941"	"00025897"	"90"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873941"	"00003652"	"90"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873942"	"00025897"	"90"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873942"	"00003652"	"90"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873943"	"00025897"	"90"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873943"	"00003652"	"90"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873944"	"00025897"	"90"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873944"	"00003652"	"90"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873945"	"00025897"	"90"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873945"	"00003652"	"90"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873946"	"00025897"	"90"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873946"	"00003652"	"90"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873947"	"00025897"	"90"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873947"	"00003652"	"90"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873948"	"00025897"	"90"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873948"	"00003652"	"90"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873949"	"00025897"	"90"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873949"	"00003652"	"90"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873950"	"00025897"	"90"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873950"	"00003652"	"90"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873951"	"00025897"	"90"	"646"	"0"	"646"	"0"	"c.646G>T"	"r.(?)"	"p.(Gly216Cys)"	""
"0000873951"	"00003652"	"90"	"646"	"0"	"646"	"0"	"c.646G>T"	"r.(?)"	"p.(Gly216Cys)"	""
"0000873952"	"00025897"	"90"	"646"	"0"	"646"	"0"	"c.646G>T"	"r.(?)"	"p.(Gly216Cys)"	""
"0000873952"	"00003652"	"90"	"646"	"0"	"646"	"0"	"c.646G>T"	"r.(?)"	"p.(Gly216Cys)"	""
"0000873953"	"00025897"	"90"	"646"	"0"	"646"	"0"	"c.646G>T"	"r.(?)"	"p.(Gly216Cys)"	""
"0000873953"	"00003652"	"90"	"646"	"0"	"646"	"0"	"c.646G>T"	"r.(?)"	"p.(Gly216Cys)"	""
"0000873954"	"00025897"	"90"	"646"	"0"	"646"	"0"	"c.646G>T"	"r.(?)"	"p.(Gly216Cys)"	""
"0000873954"	"00003652"	"90"	"646"	"0"	"646"	"0"	"c.646G>T"	"r.(?)"	"p.(Gly216Cys)"	""
"0000873955"	"00025897"	"90"	"646"	"0"	"646"	"0"	"c.646G>T"	"r.(?)"	"p.(Gly216Cys)"	""
"0000873955"	"00003652"	"90"	"646"	"0"	"646"	"0"	"c.646G>T"	"r.(?)"	"p.(Gly216Cys)"	""
"0000873956"	"00025897"	"90"	"646"	"0"	"646"	"0"	"c.646G>T"	"r.(?)"	"p.(Gly216Cys)"	""
"0000873956"	"00003652"	"90"	"646"	"0"	"646"	"0"	"c.646G>T"	"r.(?)"	"p.(Gly216Cys)"	""
"0000873957"	"00025897"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000873957"	"00003652"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000873958"	"00025897"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000873958"	"00003652"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000873959"	"00025897"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000873959"	"00003652"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000873960"	"00025897"	"90"	"489"	"0"	"489"	"0"	"c.489C>A"	"r.(?)"	"p.(Ser163Arg)"	""
"0000873960"	"00003652"	"90"	"489"	"0"	"489"	"0"	"c.489C>A"	"r.(?)"	"p.(Ser163Arg)"	""
"0000874369"	"00003652"	"70"	"-1493"	"0"	"-1493"	"0"	"c.-1493dup"	"r.(=)"	"p.(=)"	""
"0000874370"	"00003652"	"70"	"-1493"	"0"	"-1493"	"0"	"c.-1493dup"	"r.(=)"	"p.(=)"	""
"0000874371"	"00003652"	"70"	"-1493"	"0"	"-1493"	"0"	"c.-1493dup"	"r.(=)"	"p.(=)"	""
"0000874372"	"00003652"	"70"	"-1493"	"0"	"-1493"	"0"	"c.-1493dup"	"r.(=)"	"p.(=)"	""
"0000874373"	"00003652"	"70"	"-1493"	"0"	"-1493"	"0"	"c.-1493dup"	"r.(=)"	"p.(=)"	""
"0000874374"	"00003652"	"70"	"-2114"	"0"	"-2114"	"0"	"c.-2114C>T"	"r.(=)"	"p.(=)"	""
"0000874375"	"00003652"	"70"	"-2145"	"0"	"-2145"	"0"	"c.-2145del"	"r.(=)"	"p.(=)"	""
"0000874376"	"00003652"	"70"	"-2145"	"0"	"-2145"	"0"	"c.-2145del"	"r.(=)"	"p.(=)"	""
"0000874377"	"00025897"	"70"	"-232"	"-4633"	"-232"	"-4633"	"c.-4865T>C"	"r.(=)"	"p.(=)"	""
"0000874377"	"00003652"	"70"	"-2092"	"0"	"-2092"	"0"	"c.-2092T>C"	"r.(=)"	"p.(=)"	""
"0000874378"	"00003652"	"70"	"-2092"	"0"	"-2092"	"0"	"c.-2092T>C"	"r.(=)"	"p.(=)"	""
"0000874382"	"00003652"	"70"	"-2145"	"0"	"-2145"	"0"	"c.-2145dup"	"r.(=)"	"p.(=)"	""
"0000874383"	"00025897"	"70"	"-232"	"-4686"	"-232"	"-4686"	"c.-4918dup"	"r.(=)"	"p.(=)"	""
"0000874383"	"00003652"	"70"	"-2145"	"0"	"-2145"	"0"	"c.-2145dup"	"r.(=)"	"p.(=)"	""
"0000874384"	"00003652"	"70"	"-2145"	"0"	"-2145"	"0"	"c.-2145dup"	"r.(=)"	"p.(=)"	""
"0000874385"	"00003652"	"70"	"-2145"	"0"	"-2145"	"0"	"c.-2145dup"	"r.(=)"	"p.(=)"	""
"0000874404"	"00003652"	"70"	"-2145"	"0"	"-2145"	"0"	"c.-2145del"	"r.(=)"	"p.(=)"	""
"0000874405"	"00003652"	"70"	"-2145"	"0"	"-2145"	"0"	"c.-2145del"	"r.(=)"	"p.(=)"	""
"0000874406"	"00003652"	"70"	"-2145"	"0"	"-2145"	"0"	"c.-2145del"	"r.(=)"	"p.(=)"	""
"0000874421"	"00003652"	"30"	"-2445"	"0"	"-2445"	"0"	"c.-2445C>G"	"r.(=)"	"p.(=)"	""
"0000874422"	"00003652"	"30"	"-2231"	"0"	"-2231"	"0"	"c.-2231G>A"	"r.(=)"	"p.(=)"	""
"0000874423"	"00025897"	"30"	"-232"	"-4686"	"-232"	"-4686"	"c.-4918C>T"	"r.(=)"	"p.(=)"	""
"0000874423"	"00003652"	"30"	"-2145"	"0"	"-2145"	"0"	"c.-2145C>T"	"r.(=)"	"p.(=)"	""
"0000874424"	"00003652"	"30"	"-2097"	"0"	"-2097"	"0"	"c.-2097T>C"	"r.(=)"	"p.(=)"	""
"0000874425"	"00003652"	"30"	"-1867"	"0"	"-1867"	"0"	"c.-1867G>A"	"r.(=)"	"p.(=)"	""
"0000874426"	"00003652"	"30"	"-1683"	"0"	"-1683"	"0"	"c.-1683G>A"	"r.(=)"	"p.(=)"	""
"0000874431"	"00003652"	"30"	"-2667"	"0"	"-2667"	"0"	"c.-2667G>A"	"r.(=)"	"p.(=)"	""
"0000874432"	"00003652"	"30"	"-2582"	"-17"	"-2582"	"-14"	"c.-2582-17_-2582-14dup"	"r.(=)"	"p.(=)"	""
"0000874433"	"00003652"	"30"	"-2445"	"0"	"-2445"	"0"	"c.-2445C>G"	"r.(=)"	"p.(=)"	""
"0000874434"	"00003652"	"30"	"-2231"	"0"	"-2231"	"0"	"c.-2231G>A"	"r.(=)"	"p.(=)"	""
"0000874435"	"00025897"	"30"	"-4918"	"0"	"-4918"	"0"	"c.-4918C>T"	"r.(=)"	"p.(=)"	""
"0000874435"	"00003652"	"30"	"-2145"	"0"	"-2145"	"0"	"c.-2145C>T"	"r.(=)"	"p.(=)"	""
"0000874436"	"00003652"	"30"	"-2141"	"0"	"-2141"	"0"	"c.-2141C>G"	"r.(=)"	"p.(=)"	""
"0000874437"	"00025897"	"30"	"-232"	"-4638"	"-232"	"-4638"	"c.-4870T>C"	"r.(=)"	"p.(=)"	""
"0000874437"	"00003652"	"30"	"-2097"	"0"	"-2097"	"0"	"c.-2097T>C"	"r.(=)"	"p.(=)"	""
"0000874438"	"00025897"	"30"	"-232"	"-4099"	"-232"	"-4099"	"c.-4331C>A"	"r.(=)"	"p.(=)"	""
"0000874438"	"00003652"	"30"	"-1973"	"0"	"-1973"	"0"	"c.-1973C>A"	"r.(=)"	"p.(=)"	""
"0000874439"	"00003652"	"30"	"-1968"	"0"	"-1968"	"0"	"c.-1968G>A"	"r.(=)"	"p.(=)"	""
"0000874440"	"00003652"	"30"	"-1867"	"0"	"-1867"	"0"	"c.-1867G>A"	"r.(=)"	"p.(=)"	""
"0000874441"	"00003652"	"30"	"-1683"	"0"	"-1683"	"0"	"c.-1683G>A"	"r.(=)"	"p.(=)"	""
"0000874444"	"00003652"	"70"	"-2145"	"0"	"-2145"	"0"	"c.-2145del"	"r.(=)"	"p.(=)"	""
"0000874445"	"00003652"	"70"	"-2145"	"0"	"-2145"	"0"	"c.-2145del"	"r.(=)"	"p.(=)"	""
"0000874446"	"00003652"	"70"	"-1493"	"0"	"-1493"	"0"	"c.-1493dup"	"r.(=)"	"p.(=)"	""
"0000874447"	"00025897"	"70"	"-2333"	"0"	"-2333"	"0"	"c.-2333dup"	"r.(=)"	"p.(=)"	""
"0000874447"	"00003652"	"70"	"-1493"	"0"	"-1493"	"0"	"c.-1493dup"	"r.(=)"	"p.(=)"	""
"0000874448"	"00003652"	"70"	"-1493"	"0"	"-1493"	"0"	"c.-1493dup"	"r.(=)"	"p.(=)"	""
"0000874449"	"00003652"	"70"	"-2436"	"0"	"-2436"	"0"	"c.-2436G>A"	"r.(=)"	"p.(=)"	""
"0000874450"	"00003652"	"70"	"-2436"	"0"	"-2436"	"0"	"c.-2436G>A"	"r.(=)"	"p.(=)"	""
"0000874451"	"00003652"	"70"	"-2145"	"0"	"-2145"	"0"	"c.-2145del"	"r.(=)"	"p.(=)"	""
"0000874452"	"00003652"	"70"	"-1019"	"0"	"-1016"	"0"	"c.-1019_-1016del"	"r.(=)"	"p.(=)"	""
"0000874453"	"00003652"	"70"	"-2146"	"0"	"-2145"	"0"	"c.-2146_-2145insT"	"r.(=)"	"p.(=)"	""
"0000874454"	"00025897"	"70"	"-232"	"-4687"	"-232"	"-4686"	"c.-4919_-4918insT"	"r.(=)"	"p.(=)"	""
"0000874454"	"00003652"	"70"	"-2146"	"0"	"-2145"	"0"	"c.-2146_-2145insT"	"r.(=)"	"p.(=)"	""
"0000874455"	"00025897"	"70"	"-232"	"-787"	"-232"	"-784"	"c.-1019_-1016del"	"r.(=)"	"p.(=)"	""
"0000874455"	"00003652"	"70"	"-1019"	"0"	"-1016"	"0"	"c.-1019_-1016del"	"r.(=)"	"p.(=)"	""
"0000874456"	"00003652"	"70"	"-1088"	"0"	"-1088"	"0"	"c.-1088C>T"	"r.(=)"	"p.(=)"	""
"0000874457"	"00003652"	"70"	"-1088"	"0"	"-1088"	"0"	"c.-1088C>T"	"r.(=)"	"p.(=)"	""
"0000874459"	"00003652"	"70"	"-2145"	"0"	"-2145"	"0"	"c.-2145del"	"r.(=)"	"p.(=)"	""
"0000874460"	"00003652"	"70"	"-1513"	"1"	"-1513"	"1"	"c.-1513+1G>T"	"r.spl?"	"p.?"	""
"0000874462"	"00025897"	"70"	"-232"	"-4950"	"-232"	"-4950"	"c.-5182C>T"	"r.(=)"	"p.(=)"	""
"0000874462"	"00003652"	"70"	"-2270"	"0"	"-2270"	"0"	"c.-2270C>T"	"r.(=)"	"p.(=)"	""
"0000874463"	"00003652"	"70"	"-1309"	"0"	"-1309"	"0"	"c.-1309G>A"	"r.(=)"	"p.(=)"	""
"0000874464"	"00003652"	"70"	"-2145"	"0"	"-2145"	"0"	"c.-2145del"	"r.(=)"	"p.(=)"	""
"0000874477"	"00003652"	"70"	"-1088"	"0"	"-1088"	"0"	"c.-1088C>T"	"r.(=)"	"p.(=)"	""
"0000874497"	"00025897"	"70"	"-232"	"-4102"	"-232"	"-4102"	"c.-4334dup"	"r.(=)"	"p.(=)"	""
"0000874497"	"00003652"	"70"	"-1976"	"0"	"-1976"	"0"	"c.-1976dup"	"r.(=)"	"p.(=)"	""
"0000874537"	"00003652"	"70"	"-2145"	"0"	"-2145"	"0"	"c.-2145del"	"r.(=)"	"p.(=)"	""
"0000874540"	"00003652"	"70"	"-2145"	"0"	"-2145"	"0"	"c.-2145del"	"r.(=)"	"p.(=)"	""
"0000874543"	"00003652"	"70"	"-2145"	"0"	"-2145"	"0"	"c.-2145dup"	"r.(=)"	"p.(=)"	""
"0000874544"	"00003652"	"70"	"-2145"	"0"	"-2145"	"0"	"c.-2145dup"	"r.(=)"	"p.(=)"	""
"0000874546"	"00003652"	"70"	"-2145"	"0"	"-2145"	"0"	"c.-2145del"	"r.(=)"	"p.(=)"	""
"0000874547"	"00003652"	"70"	"-1493"	"0"	"-1493"	"0"	"c.-1493dup"	"r.(=)"	"p.(=)"	""
"0000874549"	"00003652"	"90"	"-2350"	"0"	"-2346"	"0"	"c.-2350_-2346del"	"r.(=)"	"p.(=)"	""
"0000874550"	"00025897"	"70"	"-232"	"-4099"	"-232"	"-4099"	"c.-4331C>A"	"r.(=)"	"p.(=)"	""
"0000874550"	"00003652"	"70"	"-1973"	"0"	"-1973"	"0"	"c.-1973C>A"	"r.(=)"	"p.(=)"	""
"0000874551"	"00025897"	"70"	"-232"	"-4099"	"-232"	"-4099"	"c.-4331C>A"	"r.(=)"	"p.(=)"	""
"0000874551"	"00003652"	"70"	"-1973"	"0"	"-1973"	"0"	"c.-1973C>A"	"r.(=)"	"p.(=)"	""
"0000874552"	"00003652"	"90"	"-1493"	"0"	"-1493"	"0"	"c.-1493dup"	"r.(=)"	"p.(=)"	""
"0000874553"	"00003652"	"70"	"-1022"	"0"	"-1022"	"0"	"c.-1022C>T"	"r.(=)"	"p.(=)"	""
"0000874554"	"00003652"	"70"	"-1022"	"0"	"-1022"	"0"	"c.-1022C>T"	"r.(=)"	"p.(=)"	""
"0000874555"	"00025897"	"70"	"-232"	"-790"	"-232"	"-790"	"c.-1022C>T"	"r.(=)"	"p.(=)"	""
"0000874555"	"00003652"	"70"	"-1022"	"0"	"-1022"	"0"	"c.-1022C>T"	"r.(=)"	"p.(=)"	""
"0000874556"	"00003652"	"70"	"-1088"	"0"	"-1088"	"0"	"c.-1088C>T"	"r.(=)"	"p.(=)"	""
"0000874560"	"00025897"	"70"	"-232"	"-4017"	"-232"	"-4017"	"c.-4249G>A"	"r.(=)"	"p.(=)"	""
"0000874560"	"00003652"	"70"	"-1891"	"0"	"-1891"	"0"	"c.-1891G>A"	"r.(=)"	"p.(=)"	""
"0000874561"	"00025897"	"70"	"-232"	"-4017"	"-232"	"-4017"	"c.-4249G>A"	"r.(=)"	"p.(=)"	""
"0000874561"	"00003652"	"70"	"-1891"	"0"	"-1891"	"0"	"c.-1891G>A"	"r.(=)"	"p.(=)"	""
"0000874562"	"00025897"	"70"	"-232"	"-4017"	"-232"	"-4017"	"c.-4249G>A"	"r.(=)"	"p.(=)"	""
"0000874562"	"00003652"	"70"	"-1891"	"0"	"-1891"	"0"	"c.-1891G>A"	"r.(=)"	"p.(=)"	""
"0000874580"	"00003652"	"70"	"-1686"	"0"	"-1686"	"0"	"c.-1686C>A"	"r.(=)"	"p.(=)"	""
"0000874581"	"00003652"	"70"	"-1686"	"0"	"-1686"	"0"	"c.-1686C>A"	"r.(=)"	"p.(=)"	""
"0000874587"	"00025897"	"70"	"-232"	"-790"	"-232"	"-790"	"c.-1022C>T"	"r.(=)"	"p.(=)"	""
"0000874587"	"00003652"	"70"	"-1022"	"0"	"-1022"	"0"	"c.-1022C>T"	"r.(=)"	"p.(=)"	""
"0000874588"	"00003652"	"70"	"-1022"	"0"	"-1022"	"0"	"c.-1022C>T"	"r.(=)"	"p.(=)"	""
"0000874593"	"00025897"	"90"	"-232"	"-4686"	"-232"	"-4686"	"c.-4918del"	"r.(=)"	"p.(=)"	""
"0000874593"	"00003652"	"90"	"-2145"	"0"	"-2145"	"0"	"c.-2145del"	"r.(=)"	"p.(=)"	""
"0000874594"	"00003652"	"90"	"-2145"	"0"	"-2145"	"0"	"c.-2145del"	"r.(=)"	"p.(=)"	""
"0000874595"	"00003652"	"90"	"-2145"	"0"	"-2145"	"0"	"c.-2145del"	"r.(=)"	"p.(=)"	""
"0000874603"	"00025897"	"70"	"-232"	"-4605"	"-232"	"-4604"	"c.-4837_-4836del"	"r.(=)"	"p.(=)"	""
"0000874603"	"00003652"	"70"	"-2064"	"0"	"-2063"	"0"	"c.-2064_-2063del"	"r.(=)"	"p.(=)"	""
"0000874607"	"00025897"	"70"	"-232"	"-4102"	"-232"	"-4102"	"c.-4334C>T"	"r.(=)"	"p.(=)"	""
"0000874607"	"00003652"	"70"	"-1976"	"0"	"-1976"	"0"	"c.-1976C>T"	"r.(=)"	"p.(=)"	""
"0000874609"	"00003652"	"70"	"-2145"	"0"	"-2145"	"0"	"c.-2145del"	"r.(=)"	"p.(=)"	""
"0000874617"	"00025897"	"70"	"-232"	"-1078"	"-232"	"-1078"	"c.-1310G>A"	"r.(=)"	"p.(=)"	""
"0000874617"	"00003652"	"70"	"-1226"	"0"	"-1226"	"0"	"c.-1226G>A"	"r.(=)"	"p.(=)"	""
"0000889664"	"00025897"	"30"	"294"	"0"	"294"	"0"	"c.294C>T"	"r.(?)"	"p.(Cys98=)"	""
"0000889664"	"00003652"	"30"	"294"	"0"	"294"	"0"	"c.294C>T"	"r.(?)"	"p.(Cys98=)"	""
"0000889665"	"00025897"	"10"	"-3154"	"0"	"-3154"	"0"	"c.-3154C>G"	"r.(?)"	"p.(=)"	""
"0000889665"	"00003652"	"10"	"-1513"	"11"	"-1513"	"11"	"c.-1513+11C>G"	"r.(=)"	"p.(=)"	""
"0000897184"	"00025897"	"90"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000897184"	"00003652"	"90"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000897185"	"00025897"	"90"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000897185"	"00003652"	"90"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000897186"	"00025897"	"90"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000897186"	"00003652"	"90"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000897188"	"00025897"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000897188"	"00003652"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000897189"	"00025897"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000897189"	"00003652"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000897190"	"00025897"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000897190"	"00003652"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000897191"	"00025897"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000897191"	"00003652"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000897192"	"00025897"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000897192"	"00003652"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000897193"	"00025897"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000897193"	"00003652"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000897194"	"00025897"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000897194"	"00003652"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000897195"	"00025897"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000897195"	"00003652"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000897196"	"00025897"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000897196"	"00003652"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000897197"	"00025897"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000897197"	"00003652"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000897198"	"00025897"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000897198"	"00003652"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000897199"	"00025897"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000897199"	"00003652"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000897200"	"00025897"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000897200"	"00003652"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000897201"	"00025897"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000897201"	"00003652"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000897202"	"00025897"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000897202"	"00003652"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000897203"	"00025897"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000897203"	"00003652"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000897204"	"00025897"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000897204"	"00003652"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000897205"	"00025897"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000897205"	"00003652"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000897206"	"00025897"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000897206"	"00003652"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000897207"	"00025897"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000897207"	"00003652"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000897208"	"00025897"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000897208"	"00003652"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000897209"	"00025897"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000897209"	"00003652"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000897210"	"00025897"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000897210"	"00003652"	"90"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Pro188Thr)"	""
"0000897212"	"00025897"	"90"	"538"	"0"	"538"	"0"	"c.538C>G"	"r.(?)"	"p.(Gln180Glu)"	""
"0000897212"	"00003652"	"90"	"538"	"0"	"538"	"0"	"c.538C>G"	"r.(?)"	"p.(Gln180Glu)"	""
"0000897213"	"00025897"	"90"	"538"	"0"	"538"	"0"	"c.538C>G"	"r.(?)"	"p.(Gln180Glu)"	""
"0000897213"	"00003652"	"90"	"538"	"0"	"538"	"0"	"c.538C>G"	"r.(?)"	"p.(Gln180Glu)"	""
"0000897214"	"00025897"	"90"	"538"	"0"	"538"	"0"	"c.538C>G"	"r.(?)"	"p.(Gln180Glu)"	""
"0000897214"	"00003652"	"90"	"538"	"0"	"538"	"0"	"c.538C>G"	"r.(?)"	"p.(Gln180Glu)"	""
"0000897215"	"00025897"	"90"	"538"	"0"	"538"	"0"	"c.538C>G"	"r.(?)"	"p.(Gln180Glu)"	""
"0000897215"	"00003652"	"90"	"538"	"0"	"538"	"0"	"c.538C>G"	"r.(?)"	"p.(Gln180Glu)"	""
"0000897216"	"00025897"	"90"	"538"	"0"	"538"	"0"	"c.538C>G"	"r.(?)"	"p.(Gln180Glu)"	""
"0000897216"	"00003652"	"90"	"538"	"0"	"538"	"0"	"c.538C>G"	"r.(?)"	"p.(Gln180Glu)"	""
"0000897217"	"00025897"	"90"	"538"	"0"	"538"	"0"	"c.538C>G"	"r.(?)"	"p.(Gln180Glu)"	""
"0000897217"	"00003652"	"90"	"538"	"0"	"538"	"0"	"c.538C>G"	"r.(?)"	"p.(Gln180Glu)"	""
"0000905552"	"00003652"	"70"	"556"	"0"	"556"	"0"	"c.556C>T"	"r.(?)"	"p.(Pro186Ser)"	""
"0000905553"	"00003652"	"70"	"569"	"0"	"569"	"0"	"c.569C>G"	"r.(?)"	"p.(Ser190Trp)"	""
"0000905554"	"00003652"	"70"	"556"	"0"	"556"	"0"	"c.556C>T"	"r.(?)"	"p.(Pro186Ser)"	""
"0000905555"	"00003652"	"70"	"569"	"0"	"569"	"0"	"c.569C>G"	"r.(?)"	"p.(Ser190Trp)"	""
"0000905556"	"00003652"	"70"	"556"	"0"	"556"	"0"	"c.556C>T"	"r.(?)"	"p.(Pro186Ser)"	""
"0000905557"	"00003652"	"70"	"569"	"0"	"569"	"0"	"c.569C>G"	"r.(?)"	"p.(Ser190Trp)"	""
"0000913519"	"00025897"	"70"	"-2008"	"0"	"-2007"	"0"	"c.-2008_-2007del"	"r.(?)"	"p.(=)"	""
"0000913519"	"00003652"	"70"	"-1313"	"0"	"-1312"	"0"	"c.-1313_-1312del"	"r.(?)"	"p.(=)"	""
"0000913520"	"00025897"	"30"	"-4072"	"0"	"-4072"	"0"	"c.-4072G>A"	"r.(?)"	"p.(=)"	""
"0000913520"	"00003652"	"30"	"-1830"	"0"	"-1830"	"0"	"c.-1830G>A"	"r.(?)"	"p.(=)"	""
"0000929810"	"00025897"	"90"	"-3164"	"0"	"-3164"	"0"	"c.-3164G>T"	"r.(?)"	"p.(=)"	""
"0000929810"	"00003652"	"90"	"-1513"	"1"	"-1513"	"1"	"c.-1513+1G>T"	"r.spl?"	"p.?"	""
"0000929811"	"00025897"	"90"	"-3199"	"0"	"-3198"	"0"	"c.-3199_-3198del"	"r.(?)"	"p.(=)"	""
"0000929811"	"00003652"	"90"	"-1547"	"0"	"-1546"	"0"	"c.-1547_-1546del"	"r.(?)"	"p.(=)"	""
"0000929812"	"00025897"	"50"	"-4100"	"0"	"-4100"	"0"	"c.-4100G>A"	"r.(?)"	"p.(=)"	""
"0000929812"	"00003652"	"50"	"-1858"	"0"	"-1858"	"0"	"c.-1858G>A"	"r.(?)"	"p.(=)"	""
"0000949605"	"00025897"	"50"	"318"	"0"	"318"	"0"	"c.318C>A"	"r.(?)"	"p.(Phe106Leu)"	""
"0000949606"	"00025897"	"30"	"-5614"	"0"	"-5614"	"0"	"c.-5614A>G"	"r.(?)"	"p.(=)"	""
"0000949606"	"00003652"	"30"	"-2480"	"7"	"-2480"	"7"	"c.-2480+7A>G"	"r.(=)"	"p.(=)"	""
"0000957996"	"00025897"	"90"	"538"	"0"	"538"	"0"	"c.538C>G"	"r.(?)"	"p.(Gln180Glu)"	""
"0000957997"	"00025897"	"90"	"538"	"0"	"538"	"0"	"c.538C>G"	"r.(?)"	"p.(Gln180Glu)"	""
"0000958020"	"00025897"	"90"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0000958345"	"00025897"	"90"	"489"	"0"	"489"	"0"	"c.489C>A"	"r.(?)"	"p.(Ser163Arg)"	""
"0000966202"	"00025897"	"30"	"-980"	"0"	"-980"	"0"	"c.-980C>T"	"r.(?)"	"p.(=)"	""
"0000966206"	"00025897"	"90"	"-5497"	"0"	"-5497"	"0"	"c.-5497C>T"	"r.(?)"	"p.(=)"	""
"0000966206"	"00003652"	"90"	"-2468"	"0"	"-2468"	"0"	"c.-2468C>T"	"r.(?)"	"p.(=)"	""
"0000979402"	"00025897"	"50"	"-1022"	"0"	"-1022"	"0"	"c.-1022C>T"	"r.(?)"	"p.(=)"	""
"0000979402"	"00003652"	"50"	"-1022"	"0"	"-1022"	"0"	"c.-1022C>T"	"r.(?)"	"p.(=)"	""
"0000979403"	"00025897"	"50"	"-1215"	"0"	"-1215"	"0"	"c.-1215C>T"	"r.(?)"	"p.(=)"	""
"0000979404"	"00025897"	"70"	"-4024"	"0"	"-4024"	"0"	"c.-4024T>A"	"r.(?)"	"p.(=)"	""
"0000979404"	"00003652"	"70"	"-1782"	"0"	"-1782"	"0"	"c.-1782T>A"	"r.(?)"	"p.(=)"	""
"0000979405"	"00025897"	"90"	"-4912"	"0"	"-4912"	"0"	"c.-4912del"	"r.(?)"	"p.(=)"	""
"0000979405"	"00003652"	"90"	"-2139"	"0"	"-2139"	"0"	"c.-2139del"	"r.(?)"	"p.(=)"	""
"0000998817"	"00025897"	"30"	"415"	"0"	"415"	"0"	"c.415G>A"	"r.(?)"	"p.(Val139Ile)"	""
"0000998818"	"00025897"	"30"	"212"	"0"	"212"	"0"	"c.212C>A"	"r.(?)"	"p.(Pro71Gln)"	""
"0001007031"	"00025897"	"90"	"489"	"0"	"489"	"0"	"c.489C>G"	"r.(?)"	"p.(Ser163Arg)"	""
"0001025922"	"00025897"	"90"	"-3267"	"0"	"-3267"	"0"	"c.-3267T>C"	"r.(?)"	"p.(=)"	""
"0001025922"	"00003652"	"90"	"-1615"	"0"	"-1615"	"0"	"c.-1615T>C"	"r.(?)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 230
"{{screeningid}}"	"{{variantid}}"
"0000291435"	"0000648124"
"0000325718"	"0000710805"
"0000329265"	"0000713388"
"0000329293"	"0000713416"
"0000329293"	"0000713763"
"0000333264"	"0000730688"
"0000335803"	"0000734713"
"0000337189"	"0000736819"
"0000360446"	"0000760338"
"0000373293"	"0000783264"
"0000373752"	"0000783992"
"0000378692"	"0000791541"
"0000378693"	"0000791542"
"0000378694"	"0000791543"
"0000378695"	"0000791544"
"0000385554"	"0000812635"
"0000387389"	"0000815273"
"0000387390"	"0000815274"
"0000387391"	"0000815275"
"0000387392"	"0000815276"
"0000387476"	"0000815508"
"0000391418"	"0000821167"
"0000391418"	"0000821528"
"0000391547"	"0000821296"
"0000391547"	"0000821574"
"0000415900"	"0000873805"
"0000415901"	"0000873806"
"0000415902"	"0000873807"
"0000415903"	"0000873808"
"0000415904"	"0000873809"
"0000415905"	"0000873810"
"0000415906"	"0000873811"
"0000415907"	"0000873812"
"0000415908"	"0000873813"
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