### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = LRP5)
# 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}}"
"LRP5" "low density lipoprotein receptor-related protein 5" "11" "q13.4" "unknown" "NG_015835.2" "UD_139312087419" "" "https://www.LOVD.nl/LRP5" "" "1" "6697" "4041" "603506" "1" "1" "1" "1" "This database is one of the ”Eye disease” gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.\r\nThis database is supported by ![](\"gfx/LOVD_logo_OIFE.png\")
Osteogenesis Imperfecta Federation Europe (OIFE)" "" "g" "https://databases.lovd.nl/shared/refseq/LRP5_codingDNA.html" "1" "" "![](\"gfx/LOVD_logo_IDdatabase.png\")
Osteogenesis Imperfecta Variant Database\r\n" "-1" "" "-1" "00006" "2009-11-01 00:00:00" "00085" "2022-04-05 13:00:51" "00006" "2025-09-24 08:32:36"
## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00025617" "LRP5" "LDL receptor related protein 5, transcript variant 1" "007" "NM_002335.4" "" "NP_002326.2" "" "" "" "-124" "5053" "4848" "68312591" "68449275" "00006" "2021-05-21 16:21:09" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 20
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" ""
"00169" "EDS" "Ehlers-Danlos syndrome (EDS)" "" "" "" "" "" "00006" "2013-08-01 11:03:44" "00006" "2021-12-10 21:51:32"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"00381" "RD" "dystrophy, retinal (RD)" "" "" "" "" "" "00006" "2014-05-09 11:59:52" "00006" "2015-12-07 07:11:25"
"00675" "OPPG" "osteoporosis-pseudoglioma syndrome (OPPG)" "AR" "259770" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"01383" "-" "hyperostosis, endosteal (Worth disease)" "AD" "144750" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"01484" "-" "osteoporosis" "AD" "166710" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"02391" "EVR4" "vitreoretinopathy, exudative, type 4 (EVR4)" "AD;AR" "601813" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-04-30 09:59:01"
"02399" "BMND1" "bone mineral density quantitative trait locus 1 (BMND-1)" "AD" "601884" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"02684" "OPTA1" "osteopetrosis, autosomal dominant, type 1" "AD" "607634" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-05-05 09:47:03"
"02685" "VBCH2" "Van Buchem disease type 2" "AD" "607636" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
"04240" "EVR;FEVR" "vitreoretinopathy, exudative (EVR; familial FVER))" "" "" "" "" "" "00006" "2015-04-10 12:38:11" "00006" "2019-07-31 13:55:30"
"05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00"
"05130" "CSNB" "blindness, night, stationary, congenital (CSNB)" "" "" "" "" "" "00006" "2016-02-03 23:24:36" "" ""
"05296" "OI" "osteogenesis imperfecta" "" "" "" "" "" "00006" "2017-06-26 22:59:16" "00006" "2025-09-23 21:54:31"
"05301" "ROP" "retinopathy of prematurity (ROP)" "" "" "" "" "" "00006" "2017-07-06 15:07:07" "" ""
"05306" "BMND" "bone mineral density, quantitative trait locus (BMND)" "" "" "" "" "" "00006" "2017-07-14 19:04:41" "" ""
"05720" "PCLD4" "liver disease, polycystic, type 4, with/without kidney cysts (PCLD4)" "AD" "617875" "" "" "" "00006" "2020-04-07 09:04:33" "00006" "2020-04-07 09:05:06"
"05746" "OPTA" "osteopetrosis, autosomal dominant (OPTA)" "AD" "" "" "" "" "00006" "2020-05-18 09:27:27" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 10
"{{geneid}}" "{{diseaseid}}"
"LRP5" "00675"
"LRP5" "01383"
"LRP5" "01484"
"LRP5" "02391"
"LRP5" "02399"
"LRP5" "02684"
"LRP5" "02685"
"LRP5" "04240"
"LRP5" "05720"
"LRP5" "05746"
## Individuals ## Do not remove or alter this header ##
## Count = 427
"{{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}}"
"00100088" "" "" "" "1" "" "01769" "{PMID:Li 2017:28418496}" "" "F" "yes" "Pakistan" "" "0" "" "" "Pakistani" "PKRD141;61141"
"00107585" "" "" "" "2" "" "00006" "" "" "" "yes" "" "" "0" "" "" "" ""
"00107586" "" "" "" "1" "" "00006" "" "" "" "" "United States" "" "0" "" "" "" ""
"00107587" "" "" "" "1" "" "00006" "" "" "" "" "United States" "" "0" "" "" "" ""
"00107588" "" "" "" "5" "" "00006" "" "" "" "" "Italy" "" "0" "" "" "Sardinia" ""
"00107589" "" "" "" "2" "" "00006" "{PMID:Van Wesenbeeck 2003:12579474}" "" "" "" "France" "" "0" "" "" "" "FamG"
"00107590" "" "" "" "1" "" "00006" "" "" "" "" "United States" "" "0" "" "" "" ""
"00107591" "" "" "" "1" "" "00006" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00107592" "" "" "" "1" "" "00006" "{PMID:Van Wesenbeeck 2003:12579474}" "" "" "" "Denmark" "" "0" "" "" "" "FamI"
"00107593" "" "" "" "1" "" "00006" "{PMID:Van Wesenbeeck 2003:12579474}" "" "" "" "Denmark" "" "0" "" "" "" "FamJ"
"00107594" "" "" "" "1" "" "00006" "" "" "" "yes" "" "" "0" "" "" "" ""
"00107595" "" "" "" "6" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00107596" "" "" "" "6" "" "00006" "" "" "" "" "United States" "" "0" "" "" "" ""
"00107600" "" "" "" "1" "" "00006" "" "" "" "yes" "" "" "0" "" "" "" ""
"00107604" "" "" "" "1" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" ""
"00107605" "" "" "" "1" "" "00006" "" "heterozygous parent" "" "" "Japan" "" "0" "" "" "" ""
"00107606" "" "" "" "1" "" "00006" "" "" "" "yes" "" "" "0" "" "" "" ""
"00107607" "" "" "" "1" "" "00006" "" "" "" "yes" "" "" "0" "" "" "" ""
"00107608" "" "" "" "1" "" "00006" "" "" "" "yes" "" "" "0" "" "" "" ""
"00107609" "" "" "" "1" "" "00006" "" "" "" "yes" "" "" "0" "" "" "" ""
"00107610" "" "" "" "1" "" "00006" "" "" "" "yes" "" "" "0" "" "" "" ""
"00107611" "" "" "" "1" "" "00006" "" "" "" "yes" "" "" "0" "" "" "" ""
"00107612" "" "" "" "1" "" "00006" "" "" "" "yes" "" "" "0" "" "" "" ""
"00107613" "" "" "" "1" "" "00006" "" "" "" "" "Argentina" "" "0" "" "" "" ""
"00107614" "" "" "" "1" "" "00006" "" "" "" "no" "" "" "0" "" "" "" ""
"00107615" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00107616" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00107617" "" "" "" "1" "" "00006" "" "" "" "" "Belgium" "" "0" "" "" "" ""
"00107618" "" "" "" "1" "" "00006" "" "" "F" "" "Japan" "" "0" "" "" "" ""
"00107619" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00107620" "" "" "" "1" "" "00006" "" "" "F" "" "" "" "0" "" "" "" ""
"00107621" "" "" "" "1" "" "00006" "" "" "M" "" "" "" "0" "" "" "" ""
"00107622" "" "" "" "1" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" ""
"00107623" "" "" "" "2" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" ""
"00107624" "" "" "" "1" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" ""
"00107625" "" "" "" "1" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" ""
"00107626" "" "" "" "1" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" ""
"00107627" "" "" "" "1" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" ""
"00107628" "" "" "" "1" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" ""
"00107629" "" "" "" "1" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" ""
"00107630" "" "" "" "1" "" "00006" "" "" "" "" "Japan" "" "0" "" "" "" ""
"00107631" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00107632" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00107633" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00107634" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00107635" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00107636" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00107637" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00107638" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00107639" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00107640" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00107641" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00107642" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00107643" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00107644" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00107645" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00107646" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00107647" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00107648" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00107649" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00107650" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00107651" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00107652" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00107653" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00107654" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00107655" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00107656" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00107657" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00107658" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00107659" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00107660" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00107661" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00107662" "" "" "" "1" "" "01251" "" "" "" "" "" "" "0" "" "" "" ""
"00107663" "" "" "" "1" "" "01251" "" "" "" "" "" "" "0" "" "" "" ""
"00107664" "" "" "" "1" "" "01251" "" "" "" "" "" "" "0" "" "" "" ""
"00107665" "" "" "" "1" "" "01251" "" "" "" "" "" "" "0" "" "" "" ""
"00107666" "" "" "" "1" "" "01251" "" "" "" "" "" "" "0" "" "" "" ""
"00107667" "" "" "" "1" "" "01251" "" "" "" "" "" "" "0" "" "" "" ""
"00107668" "" "" "" "1" "" "01251" "" "" "" "" "" "" "0" "" "" "" ""
"00107669" "" "" "" "1" "" "01251" "" "" "" "" "" "" "0" "" "" "" ""
"00107670" "" "" "" "1" "" "01251" "" "" "" "" "" "" "0" "" "" "" ""
"00107671" "" "" "" "1" "" "01251" "" "" "" "" "" "" "0" "" "" "" ""
"00107672" "" "" "" "1" "" "01251" "" "" "" "" "" "" "0" "" "" "" ""
"00107673" "" "" "" "1" "" "01251" "" "" "" "" "" "" "0" "" "" "" ""
"00107674" "" "" "" "1" "" "01251" "" "" "" "" "" "" "0" "" "" "" ""
"00107675" "" "" "" "1" "" "01251" "" "" "" "" "" "" "0" "" "" "" ""
"00107676" "" "" "" "1" "" "01251" "" "" "" "" "" "" "0" "" "" "" ""
"00107677" "" "" "" "1" "" "01251" "" "" "" "" "" "" "0" "" "" "" ""
"00107678" "" "" "" "1" "" "01251" "" "" "" "" "" "" "0" "" "" "" ""
"00107679" "" "" "" "1" "" "01251" "" "" "" "" "" "" "0" "" "" "" ""
"00107680" "" "" "" "1" "" "01251" "{PMID:Ai 2005:16252235}" "" "F" "" "United States" "" "0" "" "" "" "16252235-PatOP610"
"00107682" "" "" "" "1" "" "01251" "" "" "" "" "" "" "0" "" "" "" ""
"00107683" "" "" "" "1" "" "01251" "" "" "" "" "" "" "0" "" "" "" ""
"00107684" "" "" "" "1" "" "01251" "" "" "" "" "" "" "0" "" "" "" ""
"00107686" "" "" "" "1" "" "01251" "" "" "" "" "" "" "0" "" "" "" ""
"00107687" "" "" "" "1" "" "01251" "" "" "" "" "" "" "0" "" "" "" ""
"00107688" "" "" "" "1" "" "01251" "" "" "" "" "" "" "0" "" "" "" ""
"00107689" "" "" "" "1" "" "01251" "" "" "" "" "" "" "0" "" "" "" ""
"00107690" "" "" "" "1" "" "01251" "" "" "" "" "" "" "0" "" "" "" ""
"00107691" "" "" "" "1" "" "01251" "" "" "" "" "" "" "0" "" "" "" ""
"00107692" "" "" "" "1" "" "01251" "" "" "" "" "" "" "0" "" "" "" ""
"00107693" "" "" "" "1" "" "01251" "" "" "" "no" "" "" "0" "" "" "" ""
"00107694" "" "" "" "1" "" "01251" "" "" "" "" "" "" "0" "" "" "" ""
"00107695" "" "" "" "1" "" "01251" "" "" "" "" "" "" "0" "" "" "" ""
"00107696" "" "" "" "1" "" "01251" "" "" "" "" "" "" "0" "" "" "" ""
"00107697" "" "" "" "1" "" "01251" "" "" "" "" "" "" "0" "" "" "" ""
"00107698" "" "" "" "1" "" "01251" "" "" "" "" "" "" "0" "" "" "" ""
"00107699" "" "" "" "1" "" "01251" "" "" "" "" "" "" "0" "" "" "" ""
"00107700" "" "" "" "1" "" "01251" "" "" "" "" "" "" "0" "" "" "" ""
"00107701" "" "" "" "1" "" "01251" "" "" "" "" "" "" "0" "" "" "" ""
"00107702" "" "" "" "1" "" "01251" "" "" "" "" "" "" "0" "" "" "" ""
"00107703" "" "" "" "1" "" "01251" "" "" "" "" "" "" "0" "" "" "" ""
"00107704" "" "" "" "1" "" "01251" "" "" "" "" "" "" "0" "" "" "" ""
"00107705" "" "" "" "1" "" "01251" "" "" "" "" "" "" "0" "" "" "" ""
"00107706" "" "" "" "1" "" "01251" "" "" "" "" "" "" "0" "" "" "" ""
"00107707" "" "" "" "1" "" "01251" "" "" "" "" "" "" "0" "" "" "" ""
"00107708" "" "" "" "1" "" "01251" "" "" "" "" "" "" "0" "" "" "" ""
"00107709" "" "" "" "1" "" "01251" "" "" "" "" "" "" "0" "" "" "" ""
"00107710" "" "" "" "1" "" "01251" "" "" "" "" "" "" "0" "" "" "" ""
"00107711" "" "" "" "1" "" "01251" "" "" "" "" "" "" "0" "" "" "" ""
"00107712" "" "" "" "1" "" "02149" "" "" "" "" "" "" "0" "" "" "" ""
"00143763" "" "" "" "1" "" "02335" "" "" "M" "" "" "" "0" "" "" "" ""
"00271379" "" "" "" "2" "" "03383" "{PMID:Fei 2014:24715757}" "2 generation family, 2 affected" "M" "no" "China" "" "0" "" "" "" "Patient 1"
"00271380" "" "" "" "2" "" "03383" "{PMID:Fei 2014:24715757}" "2 generation family, 2 affected" "M" "no" "China" "" "0" "" "" "" "Patient 2"
"00274074" "" "" "" "4" "" "03383" "{PMID:Jiao 2004:15346351} {PMID:Shastry 1997:9299244 }" "4 generation family, 4 affected" "F" "yes" "United States" "" "0" "" "" "European" "68001 Patient 6"
"00274216" "" "" "" "2" "" "03383" "{PMID:Jiao 2004:15346351}" "4 generation family, 2 affected" "M" "yes" "United States" "" "0" "" "" "European" "68002 Patient 7"
"00274217" "" "" "" "2" "" "03383" "{PMID:Jiao 2004:15346351}" "4 generation family, 2 affected" "F" "yes" "United States" "" "0" "" "photocoagulation, cyropexy, vitrectomy" "European" "68003 Patient 5"
"00274218" "" "" "" "1" "" "03383" "{PMID:Liu 2017:28420620}" "2 generation family, 1 affected" "M" "no" "China" "" "0" "" "" "" "3015 II:2"
"00274219" "" "" "" "2" "" "03383" "{PMID:Liu 2017:28420620}" "2 generation family, 2 affected" "F" "" "China" "" "0" "" "" "" "3008 II:1"
"00274220" "" "" "" "1" "" "03383" "{PMID:Liu 2017:28420620}" "2 generation, 1 affected" "M" "no" "China" "" "0" "" "" "" "3095 II:1"
"00274223" "" "" "" "6" "" "03383" "{PMID:Toomes 2004:15024691}" "4 generation family, 6 affected" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "Family 1 IV:2"
"00274224" "" "" "" "6" "" "03383" "{PMID:Toomes 2004:15024691}" "3 generation family, 6 affected, 2 asymptomatic carriers" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "Family 2 III:2"
"00274225" "" "" "" "1" "" "03383" "{PMID:Toomes 2004:15024691}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "Indian" "Individual 1"
"00274226" "" "" "" "1" "" "03383" "{PMID:Toomes 2004:15024691}" "elderly British woman" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "Individual 2"
"00274227" "" "" "" "1" "" "03383" "{PMID:Toomes 2004:15024691}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "Individual 3"
"00274228" "" "" "" "2" "" "03383" "{PMID:Welinder 2015:25945592}" "2-generation family, 2 affected" "F" "no" "United States" "" "0" "" "" "North European" "Patient 1"
"00274229" "" "" "" "1" "" "03383" "{PMID:Toomes 2004:15024691}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "surgery" "Australian" "Individual 4"
"00274278" "" "" "" "3" "" "03383" "{PMID:Zhang 2016:27228167}" "4 generation family, 3 affected" "M" "yes" "India" "" "0" "" "" "" "A IV:1"
"00274279" "" "" "" "2" "" "03383" "{PMID:Zhang 2016:27228167}" "2 generation family, 2 affected" "M" "no" "India" "" "0" "" "" "" "B II:2"
"00274280" "" "" "" "2" "" "03383" "{PMID:Zhang 2016:27228167}" "3 generation family, 2 affected" "M" "no" "India" "" "0" "" "" "" "C III:1"
"00274281" "" "" "" "2" "" "03383" "{PMID:Zhang 2016:27228167}" "2 generation family, 2 affected" "F" "no" "India" "" "0" "" "" "" "D II:2"
"00274282" "" "" "" "2" "" "03383" "{PMID:Hull 2019:31077665}" "2 generation family, 2 affected" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "GC16755 Pt1"
"00274283" "" "" "" "1" "" "03383" "{PMID:Hull 2019:31077665}" "2 generation, 1 affected" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "GC19160 Pt2"
"00274289" "" "" "" "1" "" "03383" "{PMID:Ai 2005:16252235}" "" "M" "no" "United States" "" "0" "" "" "" "OP345"
"00274359" "" "" "" "1" "" "03383" "{PMID:Zhang 2019:31009104}" "" "F" "?" "China" "" "0" "" "" "" "Patient 9"
"00274453" "" "" "" "3" "" "03383" "{PMID:Zhang 2019:31009104}" "" "M" "?" "China" "" "0" "" "" "" "Patient 25"
"00331311" "" "" "" "2" "" "00006" "{PMID:Su 2018:29652990}" "2-generation family, affected mother/child" "F" "" "China" "" "0" "" "" "" "Fam"
"00332259" "" "" "" "3" "" "00006" "{PMID:Lin 2018:29207047}" "2-generation family, 3 affected (3M)" "M" "no" "China" "" "0" "" "" "" "FamPatI1?II2/II3"
"00332295" "" "" "" "1" "" "00000" "{PMID:Tang 2017:29181528}" "" "" "" "China" "" "0" "" "" "" "Fam61"
"00332296" "" "" "" "1" "" "00000" "{PMID:Tang 2017:29181528}" "" "" "" "China" "" "0" "" "" "" "Fam73"
"00332297" "" "" "" "1" "" "00000" "{PMID:Tang 2017:29181528}" "" "" "" "China" "" "0" "" "" "" "Fam82"
"00332298" "" "" "" "1" "" "00000" "{PMID:Tang 2017:29181528}" "" "" "" "China" "" "0" "" "" "" "Fam64"
"00332299" "" "" "" "1" "" "00000" "{PMID:Tang 2017:29181528}" "" "" "" "China" "" "0" "" "" "" "Fam93"
"00332300" "" "" "" "1" "" "00000" "{PMID:Tang 2017:29181528}" "" "" "" "China" "" "0" "" "" "" "Fam83"
"00332301" "" "" "" "1" "" "00000" "{PMID:Tang 2017:29181528}" "" "" "" "China" "" "0" "" "" "" "Fam95"
"00332302" "" "" "" "1" "" "00000" "{PMID:Tang 2017:29181528}" "" "" "" "China" "" "0" "" "" "" "Fam77"
"00332308" "" "" "" "1" "" "00000" "{PMID:Tang 2017:29181528}" "" "" "" "China" "" "0" "" "" "" "Fam6"
"00332309" "" "" "" "1" "" "00000" "{PMID:Tang 2017:29181528}" "" "" "" "China" "" "0" "" "" "" "Fam91"
"00333373" "" "" "" "1" "" "00000" "{PMID:Huang 2017:28867931}" "" "F" "" "China" "" "0" "" "" "" "Pat1"
"00333375" "" "" "" "1" "" "00000" "{PMID:Huang 2017:28867931}" "" "F" "" "China" "" "0" "" "" "" "Pat3"
"00333427" "" "" "" "1" "" "00000" "{PMID:Wang 2017:28838317}" "" "" "" "United States" "" "0" "" "" "" "RD15–01"
"00334895" "" "" "" "1" "" "00000" "{PMID:Li 2017:28418496}" "" "" "" "Pakistan" "" "0" "" "" "" "61169"
"00335205" "" "" "" "1" "" "00000" "{PMID:Keser 2017:28192794}" "" "" "" "Pakistan" "" "0" "" "" "" "NCRNA3"
"00335206" "" "" "" "1" "" "00000" "{PMID:Keser 2017:28192794}" "" "" "" "Pakistan" "" "0" "" "" "" "NCRNA20"
"00335207" "" "" "" "1" "" "00000" "{PMID:Keser 2017:28192794}" "" "" "" "Pakistan" "" "0" "" "" "" "NCRNA2"
"00335209" "" "" "" "1" "" "00000" "{PMID:Keser 2017:28192794}" "" "" "" "Pakistan" "" "0" "" "" "" "NCRNA7"
"00335211" "" "" "" "1" "" "00000" "{PMID:Keser 2017:28192794}" "" "" "" "Pakistan" "" "0" "" "" "" "NCRNA19"
"00335213" "" "" "" "1" "" "00000" "{PMID:Keser 2017:28192794}" "" "" "" "Pakistan" "" "0" "" "" "" "NCRNA16"
"00358973" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "F" "" "Switzerland" "" "0" "" "" "" "Case71583"
"00359049" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "familial segregation analysis requested" "" "" "" "" "0" "" "" "" "13010229"
"00363602" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG01154"
"00363640" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "11DG0198"
"00363832" "" "" "" "1" "" "00000" "{PMID:Seo 2015:26244290}" "" "M" "" "Korea" "" "0" "" "" "" "Pat14"
"00363833" "" "" "" "1" "" "00000" "{PMID:Seo 2015:26244290}" "" "M" "" "Korea" "" "0" "" "" "" "Pat15"
"00363834" "" "" "" "1" "" "00000" "{PMID:Seo 2015:26244290}" "" "M" "" "Korea" "" "0" "" "" "" "Pat16"
"00363835" "" "" "" "1" "" "00000" "{PMID:Seo 2015:26244290}" "" "M" "" "Korea" "" "0" "" "" "" "Pat17"
"00363838" "" "" "" "1" "" "00000" "{PMID:Seo 2015:26244290}" "FEVR patients" "" "" "Korea" "" "0" "" "" "" "patient"
"00363839" "" "" "" "1" "" "00000" "{PMID:Seo 2015:26244290}" "FEVR patients" "" "" "Korea" "" "0" "" "" "" "patient"
"00363843" "" "" "" "3" "" "00000" "{PMID:Seo 2015:26244290}" "controls" "" "" "Korea" "" "0" "" "" "" "controls"
"00372519" "" "" "" "1" "" "00006" "{PMID:Xu 2015:25999675}" "2-generation family, 1 affected, unaffected carrier parents" "M" "" "China" "" "0" "" "" "" "RP240"
"00372625" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "F" "" "China" "" "0" "" "" "" "RP221"
"00372671" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "patient" "F" "" "China" "" "0" "" "" "" "RP193"
"00373425" "" "" "" "1" "" "00000" "{PMID:Salvo 2015:25711638}" "family" "" "" "United States" "" "0" "" "" "" "1079004"
"00373426" "" "" "" "1" "" "00000" "{PMID:Salvo 2015:25711638}" "family" "" "" "United States" "" "0" "" "" "" "14471001"
"00373427" "" "" "" "1" "" "00000" "{PMID:Salvo 2015:25711638}" "family" "" "" "United States" "" "0" "" "" "" "2082001"
"00373428" "" "" "" "1" "" "00000" "{PMID:Salvo 2015:25711638}" "family" "" "" "United States" "" "0" "" "" "" "14023006"
"00373429" "" "" "" "1" "" "00000" "{PMID:Salvo 2015:25711638}" "family" "" "" "United States" "" "0" "" "" "" "1007001"
"00373430" "" "" "" "1" "" "00000" "{PMID:Salvo 2015:25711638}" "family" "" "" "United States" "" "0" "" "" "" "1377001"
"00373431" "" "" "" "1" "" "00000" "{PMID:Salvo 2015:25711638}" "family" "" "" "United States" "" "0" "" "" "" "1504001"
"00373432" "" "" "" "1" "" "00000" "{PMID:Salvo 2015:25711638}" "family" "" "" "United States" "" "0" "" "" "" "1548003"
"00373433" "" "" "" "1" "" "00000" "{PMID:Salvo 2015:25711638}" "family" "" "" "United States" "" "0" "" "" "" "2978001"
"00373434" "" "" "" "1" "" "00000" "{PMID:Salvo 2015:25711638}" "family" "" "" "United States" "" "0" "" "" "" "14127002"
"00373435" "" "" "" "1" "" "00000" "{PMID:Salvo 2015:25711638}" "family" "" "" "United States" "" "0" "" "" "" "16311001"
"00373436" "" "" "" "1" "" "00000" "{PMID:Salvo 2015:25711638}" "family" "" "" "United States" "" "0" "" "" "" "1079004"
"00373437" "" "" "" "1" "" "00000" "{PMID:Salvo 2015:25711638}" "family" "" "" "United States" "" "0" "" "" "" "1346007"
"00373438" "" "" "" "1" "" "00000" "{PMID:Salvo 2015:25711638}" "family" "" "" "United States" "" "0" "" "" "" "1348009"
"00373439" "" "" "" "1" "" "00000" "{PMID:Salvo 2015:25711638}" "family" "" "" "United States" "" "0" "" "" "" "3322001"
"00373440" "" "" "" "1" "" "00000" "{PMID:Salvo 2015:25711638}" "family" "" "" "United States" "" "0" "" "" "" "7963001"
"00373441" "" "" "" "1" "" "00000" "{PMID:Salvo 2015:25711638}" "family" "" "" "United States" "" "0" "" "" "" "1402003"
"00373462" "" "" "" "1" "" "00000" "{PMID:Salvo 2015:25711638}" "family" "" "" "United States" "" "0" "" "" "" "13766001"
"00373463" "" "" "" "1" "" "00000" "{PMID:Salvo 2015:25711638}" "family" "" "" "United States" "" "0" "" "" "" "16312001"
"00373957" "" "" "" "2" "" "00006" "{PMID:Stiegel 2013:25390515}" "family, 2 affected sibs" "" "" "United States" "" "0" "" "" "" "family"
"00375413" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#005"
"00375426" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#020"
"00376521" "" "" "" "1" "" "00000" "{PMID:Boonstra 2009:1932484}" "" "" "" "" "" "0" "" "" "" ""
"00376522" "" "" "" "1" "" "00000" "{PMID:Boonstra 2009:1932484}" "" "" "" "" "" "0" "" "" "" ""
"00379802" "" "" "" "1" "" "03508" "" "" "F" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GH_0163"
"00380275" "" "" "" "1" "" "00000" "{PMID:Yang-2012:23077402}" "" "M" "" "China" "" "0" "" "" "" ""
"00380276" "" "" "" "1" "" "00000" "{PMID:Yang-2012:23077402}" "" "M" "" "China" "" "0" "" "" "" ""
"00380277" "" "" "" "1" "" "00000" "{PMID:Yang-2012:23077402}" "" "F" "" "China" "" "0" "" "" "" ""
"00380278" "" "" "" "1" "" "00000" "{PMID:Yang-2012:23077402}" "" "M" "" "China" "" "0" "" "" "" ""
"00380279" "" "" "" "1" "" "00000" "{PMID:Yang-2012:23077402}" "" "M" "" "China" "" "0" "" "" "" ""
"00380280" "" "" "" "1" "" "00000" "{PMID:Yang-2012:23077402}" "" "F" "" "China" "" "0" "" "" "" ""
"00380281" "" "" "" "1" "" "00000" "{PMID:Yang-2012:23077402}" "" "F" "" "China" "" "0" "" "" "" ""
"00380748" "" "" "" "1" "" "00000" "{PMID:Li 2018:30097784}" "" "M" "" "China" "" "0" "" "" "" "1"
"00380749" "" "" "" "1" "" "00000" "{PMID:Li 2018:30097784}" "" "F" "" "China" "" "0" "" "" "" "2"
"00380750" "" "" "" "1" "" "00000" "{PMID:Li 2018:30097784}" "" "M" "" "China" "" "0" "" "" "" "3"
"00380751" "" "" "" "1" "" "00000" "{PMID:Li 2018:30097784}" "" "F" "" "China" "" "0" "" "" "" "4"
"00380752" "" "" "" "1" "" "00000" "{PMID:Li 2018:30097784}" "" "F" "" "China" "" "0" "" "" "" "5"
"00380753" "" "" "" "1" "" "00000" "{PMID:Li 2018:30097784}" "" "M" "" "China" "" "0" "" "" "" "6"
"00380754" "" "" "" "1" "" "00000" "{PMID:Li 2018:30097784}" "" "F" "" "China" "" "0" "" "" "" "7"
"00380755" "" "" "" "1" "" "00000" "{PMID:Li 2018:30097784}" "" "F" "" "China" "" "0" "" "" "" "8"
"00380756" "" "" "" "1" "" "00000" "{PMID:Li 2018:30097784}" "" "M" "" "China" "" "0" "" "" "" "9"
"00380760" "" "" "" "1" "" "00000" "{PMID:Li 2018:30097784}" "" "M" "" "China" "" "0" "" "" "" "13"
"00381095" "" "" "" "1" "" "00000" "{PMID:Kondo-2013:23441120}" "" "F" "no" "" "" "0" "" "" "Japanese" ""
"00381096" "" "" "" "1" "" "00000" "{PMID:Kondo-2013:23441120}" "" "F" "no" "" "" "0" "" "" "Japanese" ""
"00381097" "" "" "" "1" "" "00000" "{PMID:Kondo-2013:23441120}" "" "F" "no" "" "" "0" "" "" "Japanese" ""
"00381812" "" "" "" "1" "" "00000" "{PMID:Wang-2014:24154662}" "" "" "" "" "" "0" "" "" "" ""
"00381813" "" "" "" "1" "" "00000" "{PMID:Wang-2014:24154662}" "" "" "" "" "" "0" "" "" "" ""
"00381960" "" "" "" "1" "" "00000" "{PMID:Ravesh 2018:30416334}" "FamilyC" "F" "yes" "" "" "0" "" "" "" "III:I"
"00382028" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C150910C03001c2"
"00382029" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C151002C00301k1"
"00382030" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C151112C01801"
"00382031" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C160122C00701b2"
"00382032" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C160129C01201"
"00382033" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C160317C00901"
"00382034" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C160321C03001f"
"00382035" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C160324C03601g"
"00382036" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C160331C03201"
"00382037" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C160428C00401"
"00382038" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C160520C0080181"
"00382039" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C160520C0080182"
"00382040" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C160613C02201h1"
"00382041" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C160613C02201h2"
"00382042" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C160711C01501"
"00382043" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C160722C02501q"
"00382044" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C160802C02401"
"00382045" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C160805C01401d1"
"00382046" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C160809C05801"
"00382047" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "2015-S07204"
"00382048" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "2015-S07772"
"00382049" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C150824C03101"
"00382050" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C151002C00301k2"
"00382051" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C151225C01901p1"
"00382052" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C151225C01901p2"
"00382053" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C160826C02101e2"
"00382054" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "2015-S07338t"
"00382055" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "2015-S07405"
"00382056" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "2015-S07468"
"00382057" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "2015-S07769"
"00382058" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C150713C00501"
"00382059" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C150713C00801a1"
"00382060" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C150713C00801a2"
"00382061" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C150804C02801"
"00382062" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C150804C03101"
"00382063" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C150824C05501"
"00382064" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C150910C03001c1"
"00382065" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C150924C03401"
"00382066" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C151015C02301"
"00382067" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C151102C00901*"
"00382068" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C151112C01501r"
"00382069" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C160122C00101"
"00382070" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C160122C00701b1"
"00382071" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C160125C00801"
"00382072" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C160201C00401"
"00382073" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C160201C00801l"
"00382074" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C160229C04701"
"00382075" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C160304C00301"
"00382076" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C160315C00501"
"00382077" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C160524C00301"
"00382078" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C160602C03601"
"00382079" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C160602C03801"
"00382080" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C160613C02101"
"00382081" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C160622C02201"
"00382082" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C160718C04701u"
"00382083" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C160805C01401d2"
"00382084" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C160819C01301"
"00382085" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C160820C01101"
"00382086" "" "" "" "1" "" "00000" "{PMID:Li 2018:30452590}" "" "?" "" "China" "" "0" "" "" "" "C160826C02101e1"
"00382759" "" "" "" "1" "" "00000" "{PMID:Qin-2005:15981244}" "" "" "no" "Japan" "" "0" "" "" "Japanese" ""
"00382760" "" "" "" "4" "" "00000" "{PMID:Qin-2005:15981244}" "2-generation family, 4 affected, patient/brother/sister, mother, who carried the mutation, exhibited mild retinal avascularization." "M" "no" "Japan" "" "0" "" "" "Japan" "Fam1"
"00382763" "" "" "" "1" "" "00000" "{PMID:Qin-2005:15981244}" "" "M" "no" "Japan" "" "0" "" "" "Japanese" ""
"00382764" "" "" "" "1" "" "00000" "{PMID:Qin-2005:15981244}" "" "F" "no" "Japan" "" "0" "" "" "Japanese" ""
"00382765" "" "" "" "1" "" "00000" "{PMID:Qin-2005:15981244}" "the mother was heterozygous for p.F617C, and the father was heterozygous for p.T535M." "" "no" "Japan" "" "0" "" "" "Japanese" ""
"00382766" "" "" "" "2" "" "00000" "{PMID:Qin-2005:15981244}" "" "" "no" "Japan" "" "0" "" "" "Japanese" ""
"00382767" "" "" "" "1" "" "00000" "{PMID:Qin-2005:15981244}" "" "" "no" "Japan" "" "0" "" "" "Japanese" ""
"00382768" "" "" "" "1" "" "00000" "{PMID:Qin-2005:15981244}" "" "M" "no" "Japan" "" "0" "" "" "Japanese" ""
"00382769" "" "" "" "1" "" "00000" "{PMID:Qin-2005:15981244}" "" "M" "no" "Japan" "" "0" "" "" "Japanese" ""
"00382770" "" "" "" "1" "" "00000" "{PMID:Qin-2005:15981244}" "" "" "no" "Japan" "" "0" "" "" "Japanese" ""
"00382771" "" "" "" "2" "" "00000" "{PMID:Qin-2005:15981244}" "" "" "no" "Japan" "" "0" "" "" "Japanese" ""
"00382772" "" "" "" "4" "" "00000" "{PMID:Qin-2005:15981244}" "" "" "no" "Japan" "" "0" "" "" "Japanese" ""
"00382773" "" "" "" "1" "" "00000" "{PMID:Qin-2005:15981244}" "" "" "no" "Japan" "" "0" "" "" "Japanese" ""
"00383542" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31299183}" "" "" "" "China" "" "0" "" "" "" "?"
"00383543" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31299183}" "" "" "" "China" "" "0" "" "" "" "?"
"00383544" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31299183}" "" "" "" "China" "" "0" "" "" "" "?"
"00383545" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31299183}" "" "" "" "China" "" "0" "" "" "" "?"
"00383546" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31299183}" "" "" "" "China" "" "0" "" "" "" "?"
"00383547" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31299183}" "" "" "" "China" "" "0" "" "" "" "?"
"00383548" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31299183}" "" "" "" "China" "" "0" "" "" "" "?"
"00383549" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31299183}" "" "" "" "China" "" "0" "" "" "" "?"
"00383550" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31299183}" "" "" "" "China" "" "0" "" "" "" "?"
"00383551" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31299183}" "" "" "" "China" "" "0" "" "" "" "?"
"00383552" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31299183}" "" "" "" "China" "" "0" "" "" "" "?"
"00383553" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31299183}" "" "" "" "China" "" "0" "" "" "" "?"
"00383554" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31299183}" "" "" "" "China" "" "0" "" "" "" "?"
"00383555" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31299183}" "" "" "" "China" "" "0" "" "" "" "?"
"00383556" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31299183}" "" "" "" "China" "" "0" "" "" "" "?"
"00383557" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31299183}" "" "" "" "China" "" "0" "" "" "" "?"
"00383558" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31299183}" "" "" "" "China" "" "0" "" "" "" "?"
"00383559" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31299183}" "" "" "" "China" "" "0" "" "" "" "?"
"00383612" "" "" "" "6" "" "00000" "{PMID:Chen 2019:31237656}" "proband, family 6, individual II:2" "F" "no" "China" "" "0" "" "" "" "6_II:2"
"00383613" "" "" "00383612" "1" "" "00000" "{PMID:Chen 2019:31237656}" "brother, family 6, individual II:1" "M" "no" "China" "" "0" "" "" "" "6_II:1"
"00383614" "" "" "00383612" "1" "" "00000" "{PMID:Chen 2019:31237656}" "sister, family 6, individual II:3" "F" "no" "China" "" "0" "" "" "" "6_II:3"
"00383615" "" "" "00383612" "1" "" "00000" "{PMID:Chen 2019:31237656}" "brother\'s son, family 6, individual III:1" "M" "no" "China" "" "0" "" "" "" "6_III:1"
"00383616" "" "" "00383612" "1" "" "00000" "{PMID:Chen 2019:31237656}" "sister\'s son, family 6, individual III:3" "M" "no" "China" "" "0" "" "" "" "6_III:3"
"00383617" "" "" "00383612" "1" "" "00000" "{PMID:Chen 2019:31237656}" "sister\'s daughter, family 6, individual III:4" "F" "no" "China" "" "0" "" "" "" "6_III:4"
"00383618" "" "" "" "2" "" "00000" "{PMID:Chen 2019:31237656}" "proband, family 53, individual II:1" "M" "no" "China" "" "0" "" "" "" "53_II:1"
"00383619" "" "" "00383618" "1" "" "00000" "{PMID:Chen 2019:31237656}" "father, family 53, individual I:1" "M" "no" "China" "" "0" "" "" "" "53_I:1"
"00383620" "" "" "" "2" "" "00000" "{PMID:Chen 2019:31237656}" "proband, family 93, individual II:1" "F" "no" "China" "" "0" "" "" "" "93_II:1"
"00383621" "" "" "00383620" "1" "" "00000" "{PMID:Chen 2019:31237656}" "father, family 93, individual I:1" "M" "no" "China" "" "0" "" "" "" "93_I:1"
"00383622" "" "" "" "1" "" "00000" "{PMID:Chen 2019:31237656}" "proband, family 102, individual II:1" "M" "no" "China" "" "0" "" "" "" "102_II:1"
"00383623" "" "" "" "2" "" "00000" "{PMID:Chen 2019:31237656}" "proband, family 110, individual II:1" "M" "no" "China" "" "0" "" "" "" "110_II:1"
"00383624" "" "" "00383623" "1" "" "00000" "{PMID:Chen 2019:31237656}" "father, family 110, individual I:1" "M" "no" "China" "" "0" "" "" "" "110_I:1"
"00383625" "" "" "" "1" "" "00000" "{PMID:Chen 2019:31237656}" "proband, family 176, individual II:1" "M" "no" "China" "" "0" "" "" "" "176_II:1"
"00383626" "" "" "" "1" "" "00000" "{PMID:Chen 2019:31237656}" "proband, family 224, individual II:1" "M" "no" "China" "" "0" "" "" "" "224_II:1"
"00383627" "" "" "" "2" "" "00000" "{PMID:Chen 2019:31237656}" "proband, family 297, individual II:1" "F" "no" "China" "" "0" "" "" "" "297_II:1"
"00383628" "" "" "00383627" "1" "" "00000" "{PMID:Chen 2019:31237656}" "mother, family 297, individual I:2" "F" "no" "China" "" "0" "" "" "" "297_I:2"
"00383629" "" "" "" "2" "" "00000" "{PMID:Chen 2019:31237656}" "proband, family 319, individual I:1" "M" "no" "China" "" "0" "" "" "" "319_I:1"
"00383630" "" "" "00383629" "1" "" "00000" "{PMID:Chen 2019:31237656}" "father, family 319, individual II:1" "M" "no" "China" "" "0" "" "" "" "319_II:1"
"00383631" "" "" "" "2" "" "00000" "{PMID:Chen 2019:31237656}" "proband, family 325, individual II:1" "F" "no" "China" "" "0" "" "" "" "325_II:1"
"00383632" "" "" "00383631" "1" "" "00000" "{PMID:Chen 2019:31237656}" "mother, family 325, individual I:2" "F" "no" "China" "" "0" "" "" "" "325_I:2"
"00383633" "" "" "" "1" "" "00000" "{PMID:Chen 2019:31237656}" "proband, family 364, individual II:1" "M" "no" "China" "" "0" "" "" "" "364_II:1"
"00383634" "" "" "" "1" "" "00000" "{PMID:Chen 2019:31237656}" "proband, family 373, individual II:1" "M" "no" "China" "" "0" "" "" "" "373_II:1"
"00383635" "" "" "" "1" "" "00000" "{PMID:Chen 2019:31237656}" "proband, family RD005, individual II:1" "M" "no" "China" "" "0" "" "" "" "RD005_II:1"
"00383636" "" "" "" "2" "" "00000" "{PMID:Chen 2019:31237656}" "proband, family RD044, individual II:1" "F" "no" "China" "" "0" "" "" "" "RD044_II:1"
"00383637" "" "" "00383636" "1" "" "00000" "{PMID:Chen 2019:31237656}" "father, family RD044, individual I:1" "M" "no" "China" "" "0" "" "" "" "RD044_I:1"
"00383711" "" "" "" "1" "" "00000" "{PMID:Tian 2019:31169861}" "" "?" "" "China" "" "0" "" "" "" "1"
"00383712" "" "" "" "1" "" "00000" "{PMID:Tian 2019:31169861}" "" "?" "" "China" "" "0" "" "" "" "2"
"00383713" "" "" "" "1" "" "00000" "{PMID:Tian 2019:31169861}" "" "?" "" "China" "" "0" "" "" "" "3"
"00383714" "" "" "" "1" "" "00000" "{PMID:Tian 2019:31169861}" "" "?" "" "China" "" "0" "" "" "" "4"
"00383715" "" "" "" "1" "" "00000" "{PMID:Tian 2019:31169861}" "" "?" "" "China" "" "0" "" "" "" "5"
"00383716" "" "" "" "1" "" "00000" "{PMID:Tian 2019:31169861}" "" "?" "" "China" "" "0" "" "" "" "6"
"00383717" "" "" "" "1" "" "00000" "{PMID:Tian 2019:31169861}" "" "?" "" "China" "" "0" "" "" "" "7"
"00383718" "" "" "" "1" "" "00000" "{PMID:Tian 2019:31169861}" "" "?" "" "China" "" "0" "" "" "" "8"
"00383719" "" "" "" "1" "" "00000" "{PMID:Tian 2019:31169861}" "" "?" "" "China" "" "0" "" "" "" "9"
"00383720" "" "" "" "1" "" "00000" "{PMID:Tian 2019:31169861}" "" "?" "" "China" "" "0" "" "" "" "10"
"00383721" "" "" "" "1" "" "00000" "{PMID:Tian 2019:31169861}" "" "?" "" "China" "" "0" "" "" "" "11"
"00383731" "" "" "" "1" "" "00000" "{PMID:Hull 2019:31077665}" "Family GC16755" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pt 1"
"00383732" "" "" "" "1" "" "00000" "{PMID:Hull 2019:31077665}" "Family GC16755" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "brother of Pt1"
"00383733" "" "" "" "1" "" "00000" "{PMID:Hull 2019:31077665}" "Family GC19160" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pt 2"
"00384233" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "11926"
"00384281" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "13396"
"00384306" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "13561"
"00384327" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "13690"
"00384336" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "13744"
"00384343" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "13790"
"00384362" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "13978"
"00384364" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "13995"
"00384369" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14031"
"00384371" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14038"
"00384403" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14310"
"00384433" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14512"
"00384436" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14528"
"00384465" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "14728"
"00384467" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14731"
"00384481" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14813"
"00384483" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14820"
"00384496" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "14923"
"00385804" "" "" "" "1" "" "00000" "{PMID:Chen 2020:31987760}" "" "?" "" "China" "" "0" "" "" "" "64"
"00385805" "" "" "" "1" "" "00000" "{PMID:Chen 2020:31987760}" "" "?" "" "China" "" "0" "" "" "" "270"
"00385806" "" "" "" "1" "" "00000" "{PMID:Chen 2020:31987760}" "" "?" "" "China" "" "0" "" "" "" "343"
"00385807" "" "" "" "1" "" "00000" "{PMID:Chen 2020:31987760}" "" "?" "" "China" "" "0" "" "" "" "349"
"00385808" "" "" "" "1" "" "00000" "{PMID:Chen 2020:31987760}" "" "?" "" "China" "" "0" "" "" "" "388"
"00385809" "" "" "" "1" "" "00000" "{PMID:Chen 2020:31987760}" "" "?" "" "China" "" "0" "" "" "" "394"
"00385810" "" "" "" "1" "" "00000" "{PMID:Chen 2020:31987760}" "" "?" "" "China" "" "0" "" "" "" "445"
"00385811" "" "" "" "1" "" "00000" "{PMID:Chen 2020:31987760}" "" "?" "" "China" "" "0" "" "" "" "RD044"
"00388053" "" "" "" "1" "" "00000" "{PMID:Rao 2017:28494495}" "" "M" "" "China" "" "0" "" "" "" "F1"
"00388054" "" "" "" "1" "" "00000" "{PMID:Rao 2017:28494495}" "" "F" "" "China" "" "0" "" "" "" "F3"
"00388055" "" "" "" "1" "" "00000" "{PMID:Rao 2017:28494495}" "" "F" "" "China" "" "0" "" "" "" "F7"
"00388056" "" "" "" "1" "" "00000" "{PMID:Rao 2017:28494495}" "" "M" "" "China" "" "0" "" "" "" "F9"
"00388057" "" "" "" "1" "" "00000" "{PMID:Rao 2017:28494495}" "" "F" "" "China" "" "0" "" "" "" "F11"
"00388236" "" "" "" "1" "" "00000" "{PMID:Wang 2021:32238352}" "proband, family 1, only family numbers mentioned in the paper" "F" "" "China" "" "0" "" "" "" "1"
"00388237" "" "" "" "1" "" "00000" "{PMID:Wang 2021:32238352}" "father of 1.1, only family numbers mentioned in the paper" "M" "" "China" "" "0" "" "" "" "1"
"00388256" "" "" "" "1" "" "00000" "{PMID:Wang 2021:32238352}" "proband, family 11, only family numbers mentioned in the paper" "?" "" "China" "" "0" "" "" "" "11"
"00388257" "" "" "" "1" "" "00000" "{PMID:Wang 2021:32238352}" "mother of 11.1, only family numbers mentioned in the paper" "M" "" "China" "" "0" "" "" "" "11"
"00388489" "" "" "" "1" "" "00000" "{PMID:Ellingsford 2018:29074561}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "13006640"
"00390301" "" "" "" "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" "" "" "" "G001415"
"00390302" "" "" "" "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" "" "" "" "G005503"
"00391792" "" "" "" "1" "" "00000" "{PMID:Li 2020:32884843}" "" "M" "" "" "" "0" "" "" "" "1"
"00391793" "" "" "" "1" "" "00000" "{PMID:Li 2020:32884843}" "" "M" "" "" "" "0" "" "" "" "2"
"00391794" "" "" "" "1" "" "00000" "{PMID:Li 2020:32884843}" "" "M" "" "" "" "0" "" "" "" "3"
"00393697" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" ""
"00395924" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F135"
"00395939" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F312"
"00397379" "" "" "" "1" "" "00006" "{PMID:Rauch 2014:25086671}" "" "" "" "Canada" "" "0" "" "" "" "PatV34"
"00406528" "" "" "" "2" "" "00006" "{PMID:Wang 2022:35244470}" "2-generation family, affected mother/daughter" "F" "" "China" "" "0" "" "" "" "Fam1PatII1"
"00406529" "" "" "" "2" "" "00006" "{PMID:Wang 2022:35244470}" "2-generation family, affected mother/daughter" "F" "" "China" "" "0" "" "" "" "Fam2PatII1"
"00413760" "" "" "" "1" "" "00000" "{PMID:Chan 2016:27639845}" "" "M" "" "" "" "0" "" "" "" "Case 2"
"00416859" "" "" "" "1" "" "00000" "{PMID:Downey 2006:16929062}" "brother of IV:4, IV:3" "M" "yes" "" "" "0" "" "" "" "IV:1"
"00416860" "" "" "" "1" "" "00000" "{PMID:Downey 2006:16929062}" "brother of IV:1, IV:4" "M" "yes" "" "" "0" "" "" "" "IV:3"
"00416861" "" "" "" "1" "" "00000" "{PMID:Downey 2006:16929062}" "sister of IV:1, IV:3" "F" "yes" "" "" "0" "" "" "" "IV:4"
"00416869" "" "" "" "1" "" "00000" "{PMID:Maltese 2017:28145787}" "family 1, individual A8685 (proband), 2 generation family, 2 affected" "M" "" "Italy" "" "0" "" "pars plana vitrectomy, laser photocoagulation" "Italian" "AB685 (Family 1)"
"00416870" "" "" "" "1" "" "00000" "{PMID:Maltese 2017:28145787}" "family 1, individual A8996 (proband\'s father), 2 generation family, 2 affected" "M" "" "Italy" "" "0" "" "" "Italian" "AB996 (Family 1)"
"00416871" "" "" "" "1" "" "00000" "{PMID:Maltese 2017:28145787}" "family 2, individual AB873 (proband, parents second cousins)" "M" "yes" "Italy" "" "0" "" "vitreoretinal surgery" "Italian" "AB873 (Family 2)"
"00416872" "" "" "" "1" "" "00000" "{PMID:Maltese 2017:28145787}" "family 2, individual AB874 (proband\'s father)" "M" "" "Italy" "" "0" "" "" "Italian" "AB874 (Family 2)"
"00416873" "" "" "" "1" "" "00000" "{PMID:Maltese 2017:28145787}" "family 2, individual AB875 (proband\'s mother) asymptomatic" "F" "" "Italy" "" "0" "" "" "Italian" "AB875"
"00416881" "" "" "" "1" "" "00000" "{PMID:Pefkianaki 2016:27486893}" "family 1, individual 1 (proband; no numbering in text, consecutive numbers given)" "M" "" "" "" "0" "" "successfully treated with retinal cryotherapy and laser photocoagulation to areas of non-perfusion, leading to the resolution of exudative retinopathy" "" "1"
"00416882" "" "" "" "1" "" "00000" "{PMID:Pefkianaki 2016:27486893}" "family 1, individual 2 (proband\'s father; no numbering in text, consecutive numbers given)" "M" "" "" "" "0" "" "" "" "2"
"00416883" "" "" "" "1" "" "00000" "{PMID:Munier 2019:30768230}" "" "M" "" "" "" "0" "" "23-gauge pars plana vitrectomy with associated encircling buckle" "" "1"
"00418645" "" "" "" "1" "" "04391" "" "" "F" "" "Italy" "" "" "" "" "" ""
"00418694" "" "" "" "1" "" "04391" "" "" "F" "?" "Italy" "" "" "" "" "" ""
"00418780" "" "" "" "1" "" "04391" "" "" "F" "?" "Italy" "" "" "" "" "" ""
"00420471" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F135"
"00420593" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F312"
"00444231" "" "" "" "1" "" "00006" "{PMID:Kim 2021:34064005}, {PMID:Moon 2021:35052368}" "" "M" "" "Korea" "" "0" "" "" "" "Pat9;Pat6"
"00444292" "" "" "" "1" "" "00006" "{PMID:Moon 2021:35052368}" "" "" "" "Korea" "" "0" "" "" "" "Pat54"
"00466833" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat120"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 452
"{{individualid}}" "{{diseaseid}}"
"00100088" "00381"
"00107585" "00675"
"00107586" "01383"
"00107587" "01383"
"00107588" "02685"
"00107589" "02684"
"00107590" "05306"
"00107591" "05306"
"00107592" "02684"
"00107593" "02684"
"00107594" "00675"
"00107595" "04240"
"00107596" "04240"
"00107600" "00675"
"00107604" "04240"
"00107605" "04240"
"00107606" "00675"
"00107607" "00675"
"00107608" "00675"
"00107609" "00675"
"00107610" "00675"
"00107611" "00675"
"00107612" "00675"
"00107613" "05306"
"00107614" "00675"
"00107615" "05306"
"00107616" "00198"
"00107617" "05306"
"00107618" "05306"
"00107619" "05306"
"00107620" "05306"
"00107621" "05306"
"00107622" "00000"
"00107623" "00000"
"00107624" "00000"
"00107625" "00000"
"00107626" "00000"
"00107627" "00000"
"00107628" "00000"
"00107629" "00000"
"00107630" "00000"
"00107631" "00000"
"00107632" "00000"
"00107633" "00000"
"00107634" "00000"
"00107635" "00000"
"00107636" "00000"
"00107637" "00000"
"00107638" "00000"
"00107639" "00000"
"00107640" "00000"
"00107641" "00000"
"00107642" "00000"
"00107643" "00000"
"00107644" "04240"
"00107645" "04240"
"00107646" "04240"
"00107647" "04240"
"00107648" "00000"
"00107649" "00000"
"00107650" "00000"
"00107651" "00000"
"00107652" "00000"
"00107653" "00000"
"00107654" "00000"
"00107655" "00000"
"00107656" "00000"
"00107657" "00000"
"00107658" "00000"
"00107659" "00000"
"00107660" "00000"
"00107661" "00000"
"00107662" "04240"
"00107663" "04240"
"00107664" "04240"
"00107665" "04240"
"00107666" "00675"
"00107667" "00675"
"00107668" "00675"
"00107669" "00675"
"00107670" "00675"
"00107671" "00675"
"00107672" "00675"
"00107673" "00675"
"00107674" "00675"
"00107675" "00675"
"00107676" "00675"
"00107677" "00675"
"00107678" "00675"
"00107679" "00675"
"00107680" "00675"
"00107682" "00675"
"00107683" "00675"
"00107684" "00675"
"00107686" "00675"
"00107687" "00675"
"00107688" "00675"
"00107689" "00675"
"00107690" "00675"
"00107691" "00675"
"00107692" "00675"
"00107693" "00675"
"00107694" "01484"
"00107695" "01484"
"00107696" "04240"
"00107697" "04240"
"00107698" "04240"
"00107699" "04240"
"00107700" "04240"
"00107701" "04240"
"00107702" "04240"
"00107703" "00675"
"00107704" "01484"
"00107705" "04240"
"00107706" "01484"
"00107707" "05306"
"00107708" "00675"
"00107709" "00675"
"00107710" "05306"
"00107711" "01484"
"00107712" "05086"
"00143763" "00675"
"00271379" "02391"
"00271379" "04240"
"00271380" "02391"
"00271380" "04240"
"00274074" "02391"
"00274074" "04240"
"00274216" "02391"
"00274216" "04240"
"00274217" "02391"
"00274217" "04240"
"00274218" "02391"
"00274218" "04240"
"00274219" "02391"
"00274219" "04240"
"00274220" "02391"
"00274220" "04240"
"00274223" "02391"
"00274223" "04240"
"00274224" "02391"
"00274224" "04240"
"00274225" "02391"
"00274225" "04240"
"00274226" "02391"
"00274226" "04240"
"00274227" "02391"
"00274227" "04240"
"00274228" "00675"
"00274228" "02391"
"00274229" "02391"
"00274229" "04240"
"00274278" "02391"
"00274278" "04240"
"00274279" "02391"
"00274279" "04240"
"00274280" "02391"
"00274280" "04240"
"00274281" "02391"
"00274281" "04240"
"00274282" "02391"
"00274282" "04240"
"00274283" "02391"
"00274283" "04240"
"00274289" "00675"
"00274289" "04240"
"00274359" "05301"
"00274453" "05301"
"00331311" "04214"
"00332259" "04214"
"00332295" "04214"
"00332296" "04214"
"00332297" "04214"
"00332298" "04214"
"00332299" "04214"
"00332300" "04214"
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"00332308" "04214"
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"00333373" "04214"
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"00333427" "04214"
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"00335205" "04214"
"00335206" "04214"
"00335207" "04214"
"00335209" "04214"
"00335211" "04214"
"00335213" "04214"
"00358973" "04214"
"00359049" "04214"
"00363602" "04214"
"00363640" "04214"
"00363832" "04214"
"00363833" "04214"
"00363834" "04214"
"00363835" "04214"
"00363838" "04214"
"00363839" "04214"
"00363843" "00000"
"00372519" "04214"
"00372625" "04214"
"00372671" "04214"
"00373425" "04214"
"00373426" "04214"
"00373427" "04214"
"00373428" "04214"
"00373429" "04214"
"00373430" "04214"
"00373431" "04214"
"00373432" "04214"
"00373433" "04214"
"00373434" "04214"
"00373435" "04214"
"00373436" "04214"
"00373437" "04214"
"00373438" "04214"
"00373439" "04214"
"00373440" "04214"
"00373441" "04214"
"00373462" "04214"
"00373463" "04214"
"00373957" "04214"
"00375413" "04214"
"00375426" "04214"
"00376521" "04214"
"00376522" "04214"
"00379802" "04240"
"00380275" "04214"
"00380276" "04214"
"00380277" "04214"
"00380278" "04214"
"00380279" "04214"
"00380280" "04214"
"00380281" "04214"
"00380748" "04214"
"00380749" "04214"
"00380750" "04214"
"00380751" "04214"
"00380752" "04214"
"00380753" "04214"
"00380754" "04214"
"00380755" "04214"
"00380756" "04214"
"00380760" "04214"
"00381095" "04214"
"00381096" "04214"
"00381097" "04214"
"00381812" "04214"
"00381813" "04214"
"00381960" "04214"
"00382028" "04214"
"00382029" "04214"
"00382030" "04214"
"00382031" "04214"
"00382032" "04214"
"00382033" "04214"
"00382034" "04214"
"00382035" "04214"
"00382036" "04214"
"00382037" "04214"
"00382038" "04214"
"00382039" "04214"
"00382040" "04214"
"00382041" "04214"
"00382042" "04214"
"00382043" "04214"
"00382044" "04214"
"00382045" "04214"
"00382046" "04214"
"00382047" "04214"
"00382048" "04214"
"00382049" "04214"
"00382050" "04214"
"00382051" "04214"
"00382052" "04214"
"00382053" "04214"
"00382054" "04214"
"00382055" "04214"
"00382056" "04214"
"00382057" "04214"
"00382058" "04214"
"00382059" "04214"
"00382060" "04214"
"00382061" "04214"
"00382062" "04214"
"00382063" "04214"
"00382064" "04214"
"00382065" "04214"
"00382066" "04214"
"00382067" "04214"
"00382068" "04214"
"00382069" "04214"
"00382070" "04214"
"00382071" "04214"
"00382072" "04214"
"00382073" "04214"
"00382074" "04214"
"00382075" "04214"
"00382076" "04214"
"00382077" "04214"
"00382078" "04214"
"00382079" "04214"
"00382080" "04214"
"00382081" "04214"
"00382082" "04214"
"00382083" "04214"
"00382084" "04214"
"00382085" "04214"
"00382086" "04214"
"00382759" "04214"
"00382760" "04214"
"00382763" "04214"
"00382764" "04214"
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"00382766" "04214"
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"00382768" "04214"
"00382769" "04214"
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"00382771" "04214"
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"00383542" "04214"
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"00383544" "04214"
"00383545" "04214"
"00383546" "04214"
"00383547" "04214"
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"00383614" "04214"
"00383615" "04214"
"00383616" "04214"
"00383617" "04214"
"00383618" "04214"
"00383619" "04214"
"00383620" "04214"
"00383621" "04214"
"00383622" "04214"
"00383623" "04214"
"00383624" "04214"
"00383625" "04214"
"00383626" "04214"
"00383627" "04214"
"00383628" "04214"
"00383629" "04214"
"00383630" "04214"
"00383631" "04214"
"00383632" "04214"
"00383633" "04214"
"00383634" "04214"
"00383635" "04214"
"00383636" "04214"
"00383637" "04214"
"00383711" "04214"
"00383712" "04214"
"00383713" "04214"
"00383714" "04214"
"00383715" "04214"
"00383716" "04214"
"00383717" "04214"
"00383718" "04214"
"00383719" "04214"
"00383720" "04214"
"00383721" "04214"
"00383731" "04214"
"00383732" "04214"
"00383733" "04214"
"00384233" "04214"
"00384281" "04214"
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"00384336" "04214"
"00384343" "04214"
"00384362" "04214"
"00384364" "04214"
"00384369" "04214"
"00384371" "04214"
"00384403" "04214"
"00384433" "04214"
"00384436" "04214"
"00384465" "04214"
"00384467" "04214"
"00384481" "04214"
"00384483" "04214"
"00384496" "04214"
"00385804" "04214"
"00385805" "04214"
"00385806" "04214"
"00385807" "04214"
"00385808" "04214"
"00385809" "04214"
"00385810" "04214"
"00385811" "04214"
"00388053" "04214"
"00388054" "04214"
"00388055" "04214"
"00388056" "04214"
"00388057" "04214"
"00388236" "04214"
"00388237" "04214"
"00388256" "04214"
"00388257" "04214"
"00388489" "04214"
"00390301" "04214"
"00390302" "04214"
"00391792" "04214"
"00391793" "04214"
"00391794" "04214"
"00393697" "04214"
"00395924" "04214"
"00395939" "04214"
"00397379" "00198"
"00406528" "04240"
"00406529" "04240"
"00413760" "04214"
"00416859" "04214"
"00416860" "04214"
"00416861" "04214"
"00416869" "00675"
"00416869" "04240"
"00416870" "00675"
"00416871" "00675"
"00416872" "00675"
"00416873" "00000"
"00416881" "02391"
"00416882" "02391"
"00416883" "02391"
"00418645" "05296"
"00418694" "00169"
"00418694" "05296"
"00418780" "00169"
"00418780" "05296"
"00420471" "04214"
"00420593" "04214"
"00444231" "05130"
"00444292" "04214"
"00466833" "05296"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00169, 00198, 00381, 00675, 01383, 01484, 02391, 02399, 02684, 02685, 04214, 04240, 05086, 05130, 05296, 05301, 05306, 05720, 05746
## Count = 386
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Hearing/Problems}}" "{{Phenotype/Enzyme/CreatineKinase}}" "{{Phenotype/Muscle/Electromyography}}" "{{Phenotype/Muscle/Biopsy}}" "{{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}}"
"0000078327" "00381" "00100088" "01769" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000085351" "00002" "00107586" "00006" "Familial, autosomal dominant" "" "autosomal dominant osteosclerosis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000085352" "00002" "00107587" "00006" "Familial, autosomal dominant" "" "autosomal dominant osteosclerosis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000085477" "00010" "00107712" "02149" "Familial, autosomal recessive" "" "Non-syndromic hearing loss" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000116533" "00675" "00143763" "02335" "Familial, autosomal recessive" "01y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000207986" "04240" "00271379" "03383" "Familial, autosomal dominant" "10y" "familial exudative vitreoretinopaty (HP:0030490), low bone mineral density (HP:0004349)" "" "" "" "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy type 4 (EVR-4; familial)" "familial exudative vitreoretinopathy" ""
"0000207987" "04240" "00271380" "03383" "Familial, autosomal dominant" "00y04m" "familial exudative vitreoretinopathy (HP:0030490), leukocoria (HP:0000555)" "" "" "" "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy type 4 (EVR-4; familial)" "familial exudative vitreoretinopathy" ""
"0000209161" "04240" "00274074" "03383" "Familial, autosomal recessive" "" "familial exudative vitreoretinopathy (HP:0030490), large retinal folds (HP:0008052), vitreous detachments (HP:0001489)" "" "" "" "" "" "03y" "" "" "" "" "" "" "exudative vitreoretinopathy type 4 (EVR-4; familial)" "familial exudative vitreoretinopathy" ""
"0000209163" "04240" "00274216" "03383" "Familial, autosomal recessive" "" "familial exudative vitreoretinopathy (HP:0030490), retinal detachment (HP:0000541)" "" "" "" "" "" "06y" "retinal detachment (HP:0000541)" "" "" "" "" "" "exudative vitreoretinopathy type 4 (EVR-4; familial)" "familial exudative vitreoretinopathy" ""
"0000209164" "04240" "00274217" "03383" "Familial, autosomal recessive" "29y" "familial exudative vitreoretinopathy (HP:0030490)" "" "" "" "" "" "05y" "" "" "" "" "" "" "exudative vitreoretinopathy type 4 (EVR-4; familial)" "familial exudative vitreoretinopathy" ""
"0000209165" "04240" "00274218" "03383" "Familial, autosomal dominant" "05y" "familial exudative vitreoretinopathy (HP:0030490), bilateral sickle-like retinal folds (HP:0008052)" "" "" "" "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy type 4 (EVR-4; familial)" "familial exudative vitreoretinopathy" ""
"0000209166" "04240" "00274219" "03383" "Familial, autosomal dominant" "" "exudative vitreoretinopathy (HP: 0030490)macular fold on retina bilateral (HP:0008052)" "" "" "" "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy type 4 (EVR-4; familial)" "familial exudative vitreoretinopathy" ""
"0000209168" "04240" "00274220" "03383" "Familial, autosomal dominant" "02y" "exudative vitreoretinopathy (HP:0030490), bilateral macular folds (HP:0008052)" "" "" "" "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy type 4 (EVR-4; familial)" "familial exudative vitreoretinopathy" ""
"0000209169" "04240" "00274223" "03383" "Familial, autosomal dominant" "" "exudative vitreoretinopathy (HP:0030490)" "" "" "" "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy type 4 (EVR-4; familial)" "familial exudative vitreoretinopathy" ""
"0000209170" "04240" "00274224" "03383" "Familial, autosomal dominant" "" "exudative vitreoretinopathy (HP:0030490)" "" "" "" "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy type 4 (EVR-4; familial)" "familial exudative vitreoretinopathy" ""
"0000209171" "04240" "00274225" "03383" "Isolated (sporadic)" "" "exudative vitreoretinopathy (HP:0030490)" "" "" "" "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy type 4 (EVR-4; familial)" "familial exudative vitreoretinopathy" ""
"0000209172" "04240" "00274226" "03383" "Unknown" "" "exudative vitreoretinopathy (HP:0030490), retinal folds (HP:0008052)" "" "" "" "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy type 4 (EVR-4; familial)" "familial exudative vitreoretinopathy" ""
"0000209173" "04240" "00274227" "03383" "Unknown" "" "exudative vitreoretinopathy (HP:0030490), total retinal detachment (HP:0000541), retinoschisis (HP:0030502)" "" "" "" "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy type 4 (EVR-4; familial)" "familial exudative vitreoretinopathy" ""
"0000209174" "04240" "00274229" "03383" "Familial, autosomal dominant" "06y" "exudative vitreoretinopathy (HP:0030490), phthisis (HP:0000667)" "" "" "" "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy type 4 (EVR-4; familial)" "familial exudative vitreoretinopathy" ""
"0000209190" "00675" "00274228" "03383" "Familial, autosomal dominant" "08y" "bilateral retinal detachment (HP:0000541), severe osteopenia (HP:0000938)" "01y" "" "" "" "" "" "retinal detachment (HP:0000541)" "" "" "" "" "" "osteoporosis-pseudoglioma syndrome" "" ""
"0000209220" "04240" "00274278" "03383" "Familial, autosomal dominant" "" "exudative vitreoretinopathy (HP:0030490)" "" "" "" "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy type 4 (EVR-4; familial)" "familial exudative vitreoretinopathy" ""
"0000209221" "04240" "00274279" "03383" "Familial, autosomal dominant" "" "exudative vitreoretinopathy (HP:0030490)" "" "" "" "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy type 4 (EVR-4; familial)" "familial exudative vitreoretinopathy" ""
"0000209222" "04240" "00274280" "03383" "Familial, autosomal recessive" "" "exudative vitreoretinopathy (HP:0030490)" "" "" "" "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy type 4 (EVR-4; familial)" "familial exudative vitreoretinopathy" ""
"0000209223" "04240" "00274281" "03383" "Familial, autosomal dominant" "" "exudative vitreoretinopathy (HP:0030490)" "" "" "" "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy type 4 (EVR-4; familial)" "familial exudative vitreoretinopathy" ""
"0000209224" "04240" "00274282" "03383" "Familial, autosomal recessive" "09y" "exudative vitreoretinopathy (HP:0030490), microcephaly (HP:0000252), RE tractional retinal detachment (HP:0007917), LE total retinal detachment (HP:0000541)" "00y02m" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "familial exudative vitreoretinopathy" ""
"0000209225" "04240" "00274283" "03383" "Familial" "" "exudative vitreoretinopathy (HP:0030490), microcephaly (HP:0000252), bilateral retinal folds (HP:0008052)" "" "" "" "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy type 4 (EVR-4; familial)" "familial exudative vitreoretinopathy" ""
"0000209231" "00675" "00274289" "03383" "Familial, autosomal recessive" "" "microphthalmia (HP:0000568), fractures (HP:0002757)" "" "" "" "" "" "" "" "" "" "" "" "" "osteoporosis-pseudoglioma syndrome" "" ""
"0000249505" "04214" "00331311" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000250446" "04214" "00332259" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "EVR4" "exudative vitreoretinopathy" ""
"0000250482" "04214" "00332295" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy" ""
"0000250483" "04214" "00332296" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy" ""
"0000250484" "04214" "00332297" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy" ""
"0000250485" "04214" "00332298" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy" ""
"0000250486" "04214" "00332299" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy" ""
"0000250487" "04214" "00332300" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy" ""
"0000250488" "04214" "00332301" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy" ""
"0000250489" "04214" "00332302" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy" ""
"0000250495" "04214" "00332308" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy" ""
"0000250496" "04214" "00332309" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy" ""
"0000251560" "04214" "00333373" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy" ""
"0000251562" "04214" "00333375" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy" ""
"0000251614" "04214" "00333427" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "RP" ""
"0000252681" "04214" "00334895" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000252920" "04214" "00335205" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "retinal detachment" ""
"0000252921" "04214" "00335206" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "retinal detachment" ""
"0000252922" "04214" "00335207" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "retinal detachment" ""
"0000252924" "04214" "00335209" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "retinal detachment" ""
"0000252926" "04214" "00335211" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "retinal detachment" ""
"0000252928" "04214" "00335213" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "retinal detachment" ""
"0000253861" "02685" "00107588" "00006" "Familial, autosomal dominant" "" "van Buchem disease, type 2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000253866" "02684" "00107589" "00006" "Familial, autosomal dominant" "" "osteopetrosis, autosomal dominant, type 1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000253867" "02684" "00107592" "00006" "Familial, autosomal dominant" "" "osteopetrosis, autosomal dominant, type 1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000253868" "02684" "00107593" "00006" "Familial, autosomal dominant" "" "osteopetrosis, autosomal dominant, type 1" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000254052" "05306" "00107590" "00006" "Familial, autosomal dominant" "" "bone mineral density, high bone mass" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000254053" "05306" "00107591" "00006" "Isolated (sporadic)" "" "bone mineral density, high bone mass" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000254054" "05306" "00107613" "00006" "Familial" "" "bone mineral density, high bone mass" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000254055" "05306" "00107615" "00006" "Familial" "" "bone mineral density, high bone mass" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000254056" "05306" "00107617" "00006" "Familial, autosomal dominant" "" "bone mineral density, high bone mass" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000254057" "05306" "00107618" "00006" "Unknown" "" "bone mineral density" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000254058" "05306" "00107619" "00006" "Unknown" "" "bone mineral density" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000254059" "05306" "00107620" "00006" "Unknown" "" "bone mineral density" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000254060" "05306" "00107621" "00006" "Unknown" "" "bone mineral density" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000254061" "05306" "00107707" "01251" "Familial" "" "bone mineral density, high bone mass" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000254062" "05306" "00107710" "01251" "Isolated (sporadic)" "" "bone mineral density, high bone mass" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000254063" "04240" "00107595" "00006" "Familial, autosomal dominant" "" "familial exudative vitreoretinopathy" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000254064" "04240" "00107596" "00006" "Familial, autosomal dominant" "" "familial exudative vitreoretinopathy" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000254071" "04240" "00107604" "00006" "Familial" "" "exudative vitreoretinopathy (OMIM601813)" "" "" "" "" "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy (OMIM601813)" ""
"0000254072" "04240" "00107605" "00006" "Familial, autosomal recessive" "" "familial exudative vitreoretinopathy, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy, autosomal recessive" ""
"0000254073" "04240" "00107644" "00006" "Familial" "" "familial exudative vitreoretinopathy" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000254074" "04240" "00107645" "00006" "Unknown" "" "familial exudative vitreoretinopathy" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000254075" "04240" "00107646" "00006" "Isolated (sporadic)" "" "familial exudative vitreoretinopathy" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000254076" "04240" "00107647" "00006" "Isolated (sporadic)" "" "familial exudative vitreoretinopathy" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000254077" "04240" "00107662" "01251" "Familial" "" "familial exudative vitreoretinopathy" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000254078" "04240" "00107663" "01251" "Isolated (sporadic)" "" "familial exudative vitreoretinopathy" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000254079" "04240" "00107664" "01251" "Familial, autosomal recessive" "" "familial exudative vitreoretinopathy, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy, autosomal recessive" ""
"0000254080" "04240" "00107665" "01251" "Isolated (sporadic)" "" "familial exudative vitreoretinopathy" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000254082" "04240" "00107696" "01251" "Familial" "" "familial exudative vitreoretinopathy" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000254083" "04240" "00107697" "01251" "Familial" "" "familial exudative vitreoretinopathy" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000254084" "04240" "00107698" "01251" "Familial, autosomal recessive" "" "familial exudative vitreoretinopathy, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy, autosomal recessive" ""
"0000254085" "04240" "00107699" "01251" "Familial, autosomal recessive" "" "familial exudative vitreoretinopathy, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy, autosomal recessive" ""
"0000254086" "04240" "00107700" "01251" "Familial, autosomal recessive" "" "familial exudative vitreoretinopathy, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy, autosomal recessive" ""
"0000254087" "04240" "00107701" "01251" "Familial" "" "familial exudative vitreoretinopathy" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000254088" "04240" "00107702" "01251" "Familial" "" "familial exudative vitreoretinopathy" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000254089" "04240" "00107705" "01251" "Familial" "" "familial exudative vitreoretinopathy" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000254090" "00198" "00107616" "00006" "Familial" "" "high bone mass" "" "" "" "" "" "" "" "" "" "" "" "" "" "high bone mass, torus palatinus" ""
"0000254091" "01484" "00107694" "01251" "Familial" "" "Idiopathic osteoporosis" "" "" "" "" "" "" "" "" "" "" "" "" "" "Idiopathic osteoporosis" ""
"0000254092" "01484" "00107695" "01251" "Familial" "" "Idiopathic osteoporosis" "" "" "" "" "" "" "" "" "" "" "" "" "" "Idiopathic osteoporosis" ""
"0000254093" "01484" "00107704" "01251" "Familial" "" "primary osteoporosis" "" "" "" "" "" "" "" "" "" "" "" "" "" "primary osteoporosis" ""
"0000254094" "01484" "00107706" "01251" "Familial" "" "idiopathic osteoporosis" "" "" "" "" "" "" "" "" "" "" "" "" "" "idiopathic osteoporosis" ""
"0000254095" "01484" "00107711" "01251" "Familial" "" "primary osteoporosis" "" "" "" "" "" "" "" "" "" "" "" "" "" "primary osteoporosis" ""
"0000254185" "00675" "00107585" "00006" "Isolated (sporadic)" "" "osteoporosis-pseudoglioma syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "osteoporosis-pseudoglioma syndrome" "" ""
"0000254186" "00675" "00107594" "00006" "Isolated (sporadic)" "" "osteoporosis-pseudoglioma syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "osteoporosis-pseudoglioma syndrome" "" ""
"0000254187" "00675" "00107600" "00006" "Isolated (sporadic)" "" "osteoporosis-pseudoglioma syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "osteoporosis-pseudoglioma syndrome" "" ""
"0000254188" "00675" "00107606" "00006" "Isolated (sporadic)" "" "osteoporosis-pseudoglioma syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "osteoporosis-pseudoglioma syndrome" "" ""
"0000254189" "00675" "00107607" "00006" "Isolated (sporadic)" "" "osteoporosis-pseudoglioma syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "osteoporosis-pseudoglioma syndrome" "" ""
"0000254190" "00675" "00107608" "00006" "Isolated (sporadic)" "" "osteoporosis-pseudoglioma syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "osteoporosis-pseudoglioma syndrome" "" ""
"0000254191" "00675" "00107609" "00006" "Isolated (sporadic)" "" "osteoporosis-pseudoglioma syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "osteoporosis-pseudoglioma syndrome" "" ""
"0000254192" "00675" "00107610" "00006" "Isolated (sporadic)" "" "osteoporosis-pseudoglioma syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "osteoporosis-pseudoglioma syndrome" "" ""
"0000254193" "00675" "00107611" "00006" "Isolated (sporadic)" "" "osteoporosis-pseudoglioma syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "osteoporosis-pseudoglioma syndrome" "" ""
"0000254194" "00675" "00107612" "00006" "Isolated (sporadic)" "" "osteoporosis-pseudoglioma syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "osteoporosis-pseudoglioma syndrome" "" ""
"0000254195" "00675" "00107614" "00006" "Unknown" "" "osteoporosis-pseudoglioma syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "osteoporosis-pseudoglioma syndrome" "" ""
"0000254196" "00675" "00107666" "01251" "Familial" "" "osteoporosis-pseudoglioma syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "osteoporosis-pseudoglioma syndrome" "" ""
"0000254197" "00675" "00107667" "01251" "Familial" "" "osteoporosis-pseudoglioma syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "osteoporosis-pseudoglioma syndrome" "" ""
"0000254198" "00675" "00107668" "01251" "Familial" "" "osteoporosis-pseudoglioma syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "osteoporosis-pseudoglioma syndrome" "" ""
"0000254199" "00675" "00107669" "01251" "Familial" "" "osteoporosis-pseudoglioma syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "osteoporosis-pseudoglioma syndrome" "" ""
"0000254200" "00675" "00107670" "01251" "Familial" "" "osteoporosis-pseudoglioma syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "osteoporosis-pseudoglioma syndrome" "" ""
"0000254201" "00675" "00107671" "01251" "Familial" "" "osteoporosis-pseudoglioma syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "osteoporosis-pseudoglioma syndrome" "" ""
"0000254202" "00675" "00107672" "01251" "Familial" "" "osteoporosis-pseudoglioma syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "osteoporosis-pseudoglioma syndrome" "" ""
"0000254203" "00675" "00107673" "01251" "Familial" "" "osteoporosis-pseudoglioma syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "osteoporosis-pseudoglioma syndrome" "" ""
"0000254204" "00675" "00107674" "01251" "Familial" "" "osteoporosis-pseudoglioma syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "osteoporosis-pseudoglioma syndrome" "" ""
"0000254205" "00675" "00107675" "01251" "Familial" "" "osteoporosis-pseudoglioma syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "osteoporosis-pseudoglioma syndrome" "" ""
"0000254206" "00675" "00107676" "01251" "Familial" "" "osteoporosis-pseudoglioma syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "osteoporosis-pseudoglioma syndrome" "" ""
"0000254207" "00675" "00107677" "01251" "Familial" "" "osteoporosis-pseudoglioma syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "osteoporosis-pseudoglioma syndrome" "" ""
"0000254208" "00675" "00107678" "01251" "Familial" "" "osteoporosis-pseudoglioma syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "osteoporosis-pseudoglioma syndrome" "" ""
"0000254209" "00675" "00107679" "01251" "Familial" "" "osteoporosis-pseudoglioma syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "osteoporosis-pseudoglioma syndrome" "" ""
"0000254210" "00675" "00107680" "01251" "Familial, autosomal recessive" "" "osteoporosis-pseudoglioma syndrome, congenital pseudoglioma, fractures (6y), no mental retardation" "" "" "" "" "" "" "" "" "" "" "" "" "osteoporosis-pseudoglioma syndrome" "" ""
"0000254211" "00675" "00107682" "01251" "Familial" "" "osteoporosis-pseudoglioma syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "osteoporosis-pseudoglioma syndrome" "" ""
"0000254212" "00675" "00107683" "01251" "Familial" "" "osteoporosis-pseudoglioma syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "osteoporosis-pseudoglioma syndrome" "" ""
"0000254213" "00675" "00107684" "01251" "Familial" "" "osteoporosis-pseudoglioma syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "osteoporosis-pseudoglioma syndrome" "" ""
"0000254214" "00675" "00107686" "01251" "Isolated (sporadic)" "" "osteoporosis-pseudoglioma syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "osteoporosis-pseudoglioma syndrome" "" ""
"0000254215" "00675" "00107687" "01251" "Familial" "" "osteoporosis-pseudoglioma syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "osteoporosis-pseudoglioma syndrome" "" ""
"0000254216" "00675" "00107688" "01251" "Familial" "" "osteoporosis-pseudoglioma syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "osteoporosis-pseudoglioma syndrome" "" ""
"0000254217" "00675" "00107689" "01251" "Unknown" "" "osteoporosis-pseudoglioma syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "osteoporosis-pseudoglioma syndrome" "" ""
"0000254218" "00675" "00107690" "01251" "Familial" "" "osteoporosis-pseudoglioma syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "osteoporosis-pseudoglioma syndrome" "" ""
"0000254219" "00675" "00107691" "01251" "Familial" "" "osteoporosis-pseudoglioma syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "osteoporosis-pseudoglioma syndrome" "" ""
"0000254220" "00675" "00107692" "01251" "Familial" "" "osteoporosis-pseudoglioma syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "osteoporosis-pseudoglioma syndrome" "" ""
"0000254221" "00675" "00107693" "01251" "Unknown" "" "osteoporosis-pseudoglioma syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "osteoporosis-pseudoglioma syndrome" "" ""
"0000254222" "00675" "00107703" "01251" "Familial" "" "primary osteoporosis;osteoporosis-pseudoglioma syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "osteoporosis-pseudoglioma syndrome" "" ""
"0000254223" "00675" "00107708" "01251" "Familial" "" "osteoporosis-pseudoglioma syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "osteoporosis-pseudoglioma syndrome" "" ""
"0000254224" "00675" "00107709" "01251" "Familial" "" "osteoporosis-pseudoglioma syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "osteoporosis-pseudoglioma syndrome" "" ""
"0000254271" "04214" "00358973" "00000" "Familial" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000254346" "04214" "00359049" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000258952" "04214" "00363602" "00000" "Isolated (sporadic)" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy with/out retinal detachment" ""
"0000258990" "04214" "00363640" "00000" "Isolated (sporadic)" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy with/out retinal detachment" ""
"0000259179" "04214" "00363832" "00000" "Familial, autosomal dominant" "5m" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000259180" "04214" "00363833" "00000" "Familial, autosomal dominant" "3m" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000259181" "04214" "00363834" "00000" "Familial, autosomal dominant" "7m" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000259182" "04214" "00363835" "00000" "Familial, autosomal dominant" "28m" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000267834" "04214" "00372519" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000267904" "04214" "00372625" "00000" "Familial, autosomal dominant" "33y" "see paper; ..." "31y" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000267950" "04214" "00372671" "00000" "Familial, autosomal recessive" "25y" "see paper; ..." "22y" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000268701" "04214" "00373425" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000268702" "04214" "00373426" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000268703" "04214" "00373427" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000268704" "04214" "00373428" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000268705" "04214" "00373429" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000268706" "04214" "00373430" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000268707" "04214" "00373431" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000268708" "04214" "00373432" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000268709" "04214" "00373433" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000268710" "04214" "00373434" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000268711" "04214" "00373435" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000268712" "04214" "00373436" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000268713" "04214" "00373437" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000268714" "04214" "00373438" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000268715" "04214" "00373439" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000268716" "04214" "00373440" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000268717" "04214" "00373441" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000268738" "04214" "00373462" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000268739" "04214" "00373463" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000269166" "04214" "00373957" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000270627" "04214" "00375413" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000270640" "04214" "00375426" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000271728" "04214" "00376521" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Exudative Vitreoretinopathy" ""
"0000271729" "04214" "00376522" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Exudative Vitreoretinopathy" ""
"0000273657" "04240" "00379802" "03508" "Familial, autosomal dominant" "" "HP:0000639,\tHP:0008046" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000274126" "04214" "00380275" "00000" "Familial" "2m" "LE: Retrolenticular fibrotic mass, Retinal detachment, Microcornea, Flat anterior chamber/ RE: Retrolenticular fibrotic mass, Retinal detachment, Microcornea, Flat anterior chamber" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy (FEVR)" ""
"0000274127" "04214" "00380276" "00000" "Isolated (sporadic)" "5m" "LE: Retrolenticular fibrotic mass, Stretched ciliary process/ RE: Retrolenticular fibrotic mass, Stretched ciliary process" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy (FEVR)" ""
"0000274128" "04214" "00380277" "00000" "Isolated (sporadic)" "1y" "LE: Retrolenticular fibrotic mass/ RE: Temporal dragging of optic disc" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy (FEVR)" ""
"0000274129" "04214" "00380278" "00000" "Familial" "24y" "LE: Avascular zone/ RE: Retrolenticular fibrotic mass" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy (FEVR)" ""
"0000274130" "04214" "00380279" "00000" "Familial" "5m" "LE: Nystagmus, Microcornea, Retrolenticular fibrotic mass, Stretched ciliary process/ RE: Nystagmus, Microcornea, Retrolenticular fibrotic mass," "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy (FEVR)" ""
"0000274131" "04214" "00380280" "00000" "Familial" "6m" "LE: Retrolenticular fibrotic mass/ RE: Retrolenticular fibrotic mass" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy (FEVR)" ""
"0000274132" "04214" "00380281" "00000" "Familial" "30y" "LE: Increased branching of peripheral vessels/ RE: Increased branching of peripheral vessels" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy (FEVR)" ""
"0000274601" "04214" "00380748" "00000" "Familial, autosomal dominant" "3y11m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy (FEVR)" ""
"0000274602" "04214" "00380749" "00000" "Familial, autosomal dominant" "1y9m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy (FEVR)" ""
"0000274603" "04214" "00380750" "00000" "Familial, autosomal dominant" "1y1m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy (FEVR)" ""
"0000274604" "04214" "00380751" "00000" "Familial, autosomal dominant" "19y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy (FEVR)" ""
"0000274605" "04214" "00380752" "00000" "Familial, autosomal dominant" "7m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy (FEVR)" ""
"0000274606" "04214" "00380753" "00000" "Familial, autosomal dominant" "4m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy (FEVR)" ""
"0000274607" "04214" "00380754" "00000" "Familial, autosomal dominant" "7m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy (FEVR)" ""
"0000274608" "04214" "00380755" "00000" "Familial, autosomal dominant" "4m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy (FEVR)" ""
"0000274609" "04214" "00380756" "00000" "Familial, autosomal dominant" "9y8m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy (FEVR)" ""
"0000274613" "04214" "00380760" "00000" "Familial, autosomal dominant" "2y7m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy (FEVR)" ""
"0000274946" "04214" "00381095" "00000" "Familial" "6m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinopathy of prematurity." ""
"0000274947" "04214" "00381096" "00000" "Familial" "6m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinopathy of prematurity." ""
"0000274948" "04214" "00381097" "00000" "Familial" "6m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinopathy of prematurity." ""
"0000275654" "04214" "00381812" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa Simplex" ""
"0000275655" "04214" "00381813" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa Simplex" ""
"0000275802" "04214" "00381960" "00000" "Familial, autosomal recessive" "6m" "" "2m" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" ""
"0000275870" "04214" "00382028" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275871" "04214" "00382029" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275872" "04214" "00382030" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275873" "04214" "00382031" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275874" "04214" "00382032" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275875" "04214" "00382033" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275876" "04214" "00382034" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275877" "04214" "00382035" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275878" "04214" "00382036" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275879" "04214" "00382037" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275880" "04214" "00382038" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275881" "04214" "00382039" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275882" "04214" "00382040" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275883" "04214" "00382041" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275884" "04214" "00382042" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275885" "04214" "00382043" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275886" "04214" "00382044" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275887" "04214" "00382045" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275888" "04214" "00382046" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275889" "04214" "00382047" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275890" "04214" "00382048" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275891" "04214" "00382049" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275892" "04214" "00382050" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275893" "04214" "00382051" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275894" "04214" "00382052" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275895" "04214" "00382053" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275896" "04214" "00382054" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275897" "04214" "00382055" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275898" "04214" "00382056" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275899" "04214" "00382057" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275900" "04214" "00382058" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275901" "04214" "00382059" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275902" "04214" "00382060" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275903" "04214" "00382061" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275904" "04214" "00382062" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275905" "04214" "00382063" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275906" "04214" "00382064" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275907" "04214" "00382065" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275908" "04214" "00382066" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275909" "04214" "00382067" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275910" "04214" "00382068" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275911" "04214" "00382069" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275912" "04214" "00382070" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275913" "04214" "00382071" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275914" "04214" "00382072" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275915" "04214" "00382073" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275916" "04214" "00382074" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275917" "04214" "00382075" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275918" "04214" "00382076" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275919" "04214" "00382077" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275920" "04214" "00382078" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275921" "04214" "00382079" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275922" "04214" "00382080" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275923" "04214" "00382081" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275924" "04214" "00382082" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275925" "04214" "00382083" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275926" "04214" "00382084" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275927" "04214" "00382085" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000275928" "04214" "00382086" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000276615" "04214" "00382759" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy" ""
"0000276616" "04214" "00382760" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy" ""
"0000276619" "04214" "00382763" "00000" "Familial, autosomal dominant" "" "" "20y" "" "" "" "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy" ""
"0000276620" "04214" "00382764" "00000" "Familial, autosomal dominant" "" "" "41y" "" "" "" "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy" ""
"0000276621" "04214" "00382765" "00000" "Familial, autosomal recessive" "" "" "1y" "" "" "" "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy" ""
"0000276622" "04214" "00382766" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy" ""
"0000276623" "04214" "00382767" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy" ""
"0000276624" "04214" "00382768" "00000" "Familial, autosomal dominant" "" "" "29y" "" "" "" "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy" ""
"0000276625" "04214" "00382769" "00000" "Familial, autosomal dominant" "" "" "9y" "" "" "" "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy" ""
"0000276626" "04214" "00382770" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy" ""
"0000276627" "04214" "00382771" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy" ""
"0000276628" "04214" "00382772" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy" ""
"0000276629" "04214" "00382773" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy" ""
"0000277327" "04214" "00383542" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" ""
"0000277328" "04214" "00383543" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" ""
"0000277329" "04214" "00383544" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" ""
"0000277330" "04214" "00383545" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" ""
"0000277331" "04214" "00383546" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" ""
"0000277332" "04214" "00383547" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" ""
"0000277333" "04214" "00383548" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" ""
"0000277334" "04214" "00383549" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" ""
"0000277335" "04214" "00383550" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" ""
"0000277336" "04214" "00383551" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" ""
"0000277337" "04214" "00383552" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" ""
"0000277338" "04214" "00383553" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" ""
"0000277339" "04214" "00383554" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" ""
"0000277340" "04214" "00383555" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" ""
"0000277341" "04214" "00383556" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" ""
"0000277342" "04214" "00383557" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" ""
"0000277343" "04214" "00383558" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" ""
"0000277344" "04214" "00383559" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" ""
"0000277397" "04214" "00383612" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy-associated rhegmatogenous retinal detachment" ""
"0000277398" "04214" "00383613" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy-associated rhegmatogenous retinal detachment" ""
"0000277399" "04214" "00383614" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy-associated rhegmatogenous retinal detachment" ""
"0000277400" "04214" "00383615" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy-associated rhegmatogenous retinal detachment" ""
"0000277401" "04214" "00383616" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy-associated rhegmatogenous retinal detachment" ""
"0000277402" "04214" "00383617" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy-associated rhegmatogenous retinal detachment" ""
"0000277403" "04214" "00383618" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy-associated rhegmatogenous retinal detachment" ""
"0000277404" "04214" "00383619" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy-associated rhegmatogenous retinal detachment" ""
"0000277405" "04214" "00383620" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy-associated rhegmatogenous retinal detachment" ""
"0000277406" "04214" "00383621" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy-associated rhegmatogenous retinal detachment" ""
"0000277407" "04214" "00383622" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy-associated rhegmatogenous retinal detachment" ""
"0000277408" "04214" "00383623" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy-associated rhegmatogenous retinal detachment" ""
"0000277409" "04214" "00383624" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy-associated rhegmatogenous retinal detachment" ""
"0000277410" "04214" "00383625" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy-associated rhegmatogenous retinal detachment" ""
"0000277411" "04214" "00383626" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy-associated rhegmatogenous retinal detachment" ""
"0000277412" "04214" "00383627" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy-associated rhegmatogenous retinal detachment" ""
"0000277413" "04214" "00383628" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy-associated rhegmatogenous retinal detachment" ""
"0000277414" "04214" "00383629" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy-associated rhegmatogenous retinal detachment" ""
"0000277415" "04214" "00383630" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy-associated rhegmatogenous retinal detachment" ""
"0000277416" "04214" "00383631" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy-associated rhegmatogenous retinal detachment" ""
"0000277417" "04214" "00383632" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy-associated rhegmatogenous retinal detachment" ""
"0000277418" "04214" "00383633" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy-associated rhegmatogenous retinal detachment" ""
"0000277419" "04214" "00383634" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy-associated rhegmatogenous retinal detachment" ""
"0000277420" "04214" "00383635" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy-associated rhegmatogenous retinal detachment" ""
"0000277421" "04214" "00383636" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy-associated rhegmatogenous retinal detachment" ""
"0000277422" "04214" "00383637" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy-associated rhegmatogenous retinal detachment" ""
"0000277496" "04214" "00383711" "00000" "Familial, autosomal dominant" "" "Temporal retinal fold, unilateral, OD" "2y" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" "Familial exudative vitreoretinopathy" ""
"0000277497" "04214" "00383712" "00000" "Isolated (sporadic)" "" "Total RD, unilateral, OS" "6y" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" "persistent fetal vasculature syndrome" ""
"0000277498" "04214" "00383713" "00000" "Isolated (sporadic)" "" "Total RD, unilateral, OS" "2y" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" "Familial exudative vitreoretinopathy" ""
"0000277499" "04214" "00383714" "00000" "Isolated (sporadic)" "" "Total RD, unilateral, OD" "2m" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" "persistent fetal vasculature syndrome" ""
"0000277500" "04214" "00383715" "00000" "Isolated (sporadic)" "" "Temporal, unilateral, OS" "4y" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" "Familial exudative vitreoretinopathy" ""
"0000277501" "04214" "00383716" "00000" "Familial, autosomal dominant" "" "ERD; flat AC, unilateral, OS" "2y" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" "Retinal detachment" ""
"0000277502" "04214" "00383717" "00000" "Isolated (sporadic)" "" "ERD, unilateral, OD" "1y" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" "Retinal detachment" ""
"0000277503" "04214" "00383718" "00000" "Familial, autosomal dominant" "" "Nasal drag disc, unilateral, OD" "7y" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" "Toxocariasis" ""
"0000277504" "04214" "00383719" "00000" "Isolated (sporadic)" "" "Temporal, unilateral, OD" "2y" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" "Coats" ""
"0000277505" "04214" "00383720" "00000" "Familial, autosomal dominant" "" "Total RD, unilateral, OS" "5m" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" "Retinal detachment" ""
"0000277506" "04214" "00383721" "00000" "Isolated (sporadic)" "" "Temporal, unilateral, OD" "3m" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" "Familial exudative vitreoretinopathy" ""
"0000277516" "04214" "00383731" "00000" "Familial, autosomal recessive" "9y" "RE retinal fold and tractional RD nasally avascular LE total RD with no fundal view Normal DEXA scan Normal MRI brain" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy associated with microcephaly" ""
"0000277517" "04214" "00383732" "00000" "Familial, autosomal recessive" "9y" "RE retinal fold and tractional RD nasally avascular LE total RD with no fundal view Normal DEXA scan Normal MRI brain" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy associated with microcephaly" ""
"0000277518" "04214" "00383733" "00000" "Isolated (sporadic)" "8y" "BE retinal folds with partial retinal vascular preservation on FFA Reduced bone mass on DEXA scan maternal OFC 95th centile" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy associated with microcephaly" ""
"0000278018" "04214" "00384233" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "family exudative vitreoretinopathy?" ""
"0000278066" "04214" "00384281" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "family exudative vitreoretinopathy?" ""
"0000278091" "04214" "00384306" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "family exudative vitreoretinopathy? +retinal detachment" ""
"0000278112" "04214" "00384327" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Retinal vessel disease" ""
"0000278121" "04214" "00384336" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "macular dislocation" ""
"0000278128" "04214" "00384343" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "family exudative vitreoretinopathy?" ""
"0000278147" "04214" "00384362" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "family exudative vitreoretinopathy?" ""
"0000278149" "04214" "00384364" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "family exudative vitreoretinopathy?" ""
"0000278154" "04214" "00384369" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Refractive error" ""
"0000278156" "04214" "00384371" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "high myopia+family exudative vitreoretinopathy" ""
"0000278188" "04214" "00384403" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "family exudative vitreoretinopathyou" ""
"0000278218" "04214" "00384433" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Refractive error" ""
"0000278221" "04214" "00384436" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinal detachment" ""
"0000278250" "04214" "00384465" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "family exudative vitreoretinopathy" ""
"0000278252" "04214" "00384467" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "family exudative vitreoretinopathyou?" ""
"0000278266" "04214" "00384481" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "family exudative vitreoretinopathy+macular dislocationod" ""
"0000278268" "04214" "00384483" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Vitreous hemorrhage" ""
"0000278281" "04214" "00384496" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "family exudative vitreoretinopathy" ""
"0000279613" "04214" "00385804" "00000" "Familial, autosomal dominant" "" "normal vision, asymptomatic, fundus fluorescein angiography detected lesions which were confined to the peripheral retina" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "familial exudative vitreoretinopathy" ""
"0000279614" "04214" "00385805" "00000" "Familial, autosomal dominant" "" "normal vision, asymptomatic, fundus fluorescein angiography detected lesions which were confined to the peripheral retina" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "familial exudative vitreoretinopathy" ""
"0000279615" "04214" "00385806" "00000" "Familial, autosomal dominant" "" "normal vision, asymptomatic, fundus fluorescein angiography detected lesions which were confined to the peripheral retina" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "familial exudative vitreoretinopathy" ""
"0000279616" "04214" "00385807" "00000" "Familial, autosomal dominant" "" "normal vision, asymptomatic, fundus fluorescein angiography detected lesions which were confined to the peripheral retina" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "familial exudative vitreoretinopathy" ""
"0000279617" "04214" "00385808" "00000" "Familial, autosomal dominant" "" "normal vision, asymptomatic, fundus fluorescein angiography detected lesions which were confined to the peripheral retina" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "familial exudative vitreoretinopathy" ""
"0000279618" "04214" "00385809" "00000" "Familial, autosomal dominant" "" "normal vision, asymptomatic, fundus fluorescein angiography detected lesions which were confined to the peripheral retina" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "familial exudative vitreoretinopathy" ""
"0000279619" "04214" "00385810" "00000" "Familial, autosomal dominant" "" "normal vision, asymptomatic, fundus fluorescein angiography detected lesions which were confined to the peripheral retina" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "familial exudative vitreoretinopathy" ""
"0000279620" "04214" "00385811" "00000" "Familial, autosomal dominant" "" "normal vision, asymptomatic, fundus fluorescein angiography detected lesions which were confined to the peripheral retina" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "familial exudative vitreoretinopathy" ""
"0000281647" "04214" "00388053" "00000" "Familial, autosomal recessive" "41y" "Strabismus" "<1y" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy (FEVR)" ""
"0000281648" "04214" "00388054" "00000" "Familial, autosomal recessive" "34y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy (FEVR)" ""
"0000281649" "04214" "00388055" "00000" "Familial, autosomal recessive" "36y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy (FEVR)" ""
"0000281650" "04214" "00388056" "00000" "Familial, autosomal recessive" "45y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy (FEVR)" ""
"0000281651" "04214" "00388057" "00000" "Familial, autosomal recessive" "35y" "Amblyopia" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy (FEVR)" ""
"0000281795" "04214" "00388236" "00000" "Familial, autosomal dominant" "" "unilateral FEVR, stage (right eye/left eye):0/4a" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" "" ""
"0000281796" "04214" "00388237" "00000" "Familial, autosomal dominant" "" "unilateral FEVR, stage (right eye/left eye):1b/0" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" "" ""
"0000281815" "04214" "00388256" "00000" "Familial, autosomal dominant" "" "stage (right eye/left eye):1b/5a" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" "" ""
"0000281816" "04214" "00388257" "00000" "Familial, autosomal dominant" "" "unilateral FEVR, stage (right eye/left eye):1a/0" "" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" "" ""
"0000282041" "04214" "00388489" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreo-retinopathy" ""
"0000283839" "04214" "00390301" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283840" "04214" "00390302" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000285106" "04214" "00391792" "00000" "Isolated (sporadic)" "" "birth weight: 1050g, lesion stage right/left eye: 1/1, intraocular pressure: 12/10" "" "" "" "" "" "" "" "" "" "" "" "" "ROPER (retinopathy of prematurity vs familial exudative vitreoretinopathy)" "retinopathy of prematurity, atypical" ""
"0000285107" "04214" "00391793" "00000" "Isolated (sporadic)" "" "birth weight: 1270g, lesion stage right/left eye: 4a/4a, intraocular pressure: 6/6" "" "" "" "" "" "" "" "" "" "" "" "" "ROPER (retinopathy of prematurity vs familial exudative vitreoretinopathy)" "retinopathy of prematurity, atypical" ""
"0000285108" "04214" "00391794" "00000" "Familial, autosomal dominant" "" "birth weight: 2950g, lesion stage right/left eye: 4a/1, intraocular pressure: 15/15, abnormal fundus in father" "" "" "" "" "" "" "" "" "" "" "" "" "ROPER (retinopathy of prematurity vs familial exudative vitreoretinopathy)" "retinopathy of prematurity, atypical" ""
"0000286903" "04214" "00393697" "00000" "Isolated (sporadic)" "28y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Familial Exudative Vitreoretinopathy (FEVR)" ""
"0000289086" "04214" "00395924" "00000" "Unknown" "14y7m" "" "8y" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" ""
"0000289101" "04214" "00395939" "00000" "Unknown" "10m" "" "9m" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" "" ""
"0000290518" "00198" "00397379" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "fractures" ""
"0000299001" "04240" "00406528" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "EVR4" "familial Eexudative vitreoretinopathy" ""
"0000299003" "04240" "00406529" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "EVR4" "familial exudative vitreoretinopathy" ""
"0000305725" "04214" "00413760" "00000" "Unknown" "4m" "In both eyes, the anterior segment was shallow and there was a temporal mass posterior to the lens dragging the macula" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy (FEVR)" ""
"0000308370" "04214" "00416859" "00000" "Familial, autosomal recessive" "17y" "born at full term; first year of life: provisional diagnosis of congenital nystagmus, upon detailed examination found to have classic signs of familial exudative vitreoretinopathy; presented with congenital esotropia and nystagmus shortly after birth; abnormal curvature of both legs, mother had been informed he had ‘‘bone thinning”, but no action has been taken; retinal examination under anaesthesia: bilateral peripheral retinal avascularity with extensive retinal exudates; both eyes: glial remnants at the optic disc, with the left eye also showing a persistent hyaloid artery remnant projecting into the vitreous; since 16y vision remained at 6/12 bilaterally; serum bone biochemistry: normal; dual energy x ray absorptiometry analysis: Spine Z score: -4.08; volumetric bone mineral density Z score: -2.1; reduced bone mass; osteopenic while IV:4 is osteoporotic" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy with reduced bone mineral density and hyaloid vasculature remnants" "" ""
"0000308371" "04214" "00416860" "00000" "Familial, autosomal recessive" "12y" "born at 38 weeks’ gestation, birthweight 3.2 kg; first year of life: provisional diagnosis of congenital nystagmus, upon detailed examination found to have classic signs of familial exudative vitreoretinopathy; 2y retinal examination under anaesthesia: slight dragging of vessels at the optic disc bilaterally with retinal exudates; right eye: hyaloid artery remnant extending from the disc to the posterior lens surface; 6y: sudden reduction of vision in his right eye due to vitreous haemorrhage; 10y: stabilised at 6/60 in his right eye and 6/9 in the left; low hypermetropic refraction (+2.50 dioptres); 12y several lower limb fractures from minor falls; serum bone biochemistry: normal; dual energy x ray absorptiometry analysis: Spine Z score: - 1.2, volumetric bone mineral density Z score: -1.6; reduced bone mass; osteopenic" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy with reduced bone mineral density and hyaloid vasculature remnants" "" ""
"0000308372" "04214" "00416861" "00000" "Familial, autosomal recessive" "10y" "born at full term; first year of life: provisional diagnosis of congenital nystagmus, upon detailed examination found to have classic signs of familial exudative vitreoretinopathy; 1y: retinal examination under anaesthesia: dragged discs bilaterally; 4y: preretinal fibrosis leading to a total retinal detachment in the left eye; best corrected visual acuity right, left eye: 3/60, hand movements; vision remained stable at this level; low hypermetropic refraction 2y: +3.50DS; poor muscle tone - computed tomography: (infant): no abnormality; no history of bone fractures; serum bone biochemistry: normal; dual energy x ray absorptiometry analysis: Spine Z score: - 2.5; volumetric bone mineral density Z score: -2.5; reduced bone mass; osteoporotic" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy with reduced bone mineral density and hyaloid vasculature remnants" "" ""
"0000308379" "00675" "00416869" "00000" "Familial" "07y" "familial exudative vitreoretinopathy stage 5 right eye 4B left eye (HP:0030490), osteopenia (HP:0000938); early onset nystagmus with severe retinopathy and rapid development of retinal detachment in the left eye; 1y: pars plana vitrectomy and Argon laser photocoagulation in the right eye for stage 4B familial exudative vitreoretinopathy (retinal detachment involving the macula with falciform fold anchored in the temporal retinal sector and abnormal peripheral exudation); left eye was too advanced due to stage 5 familial exudative vitreoretinopathy (closed funnel retinal detachment); 3y: cataract surgery with intraocular lens implant resulting in stable visual acuity of 0.6 LogMAR in the right eye for the next 3 years; 7y: sudden visual loss (1.0 LogMAR) fluorangiography: retinal exudation next to the falciform fold in the macular area, underwent retinal cryotreatment; subsequent examination showed reabsorption of the exudates and no signs of angiographic leakage; visual acuity restored to 0.6 LogMAR; total X-ray examination of the proband showed thin, elongated diaphyses of the long bones with relatively wider metaphyses, valgus deviation of the femoral neck- diaphysis axis, evident reduction in calcium tone and no other skeletal alterations; dual energy X-ray absorptiometry (DXA): L1 to L4 bone mineral density as 0.4 g/cm2 (Z-score: -1.8); familial exudative vitreoretinopathy stage right/left eye: 4B/5; bone mineral density: osteopenia" "" "" "" "" "" "01y" "" "" "" "" "" "" "osteoporosis-pseudoglioma syndrome (OPPG)" "" ""
"0000308380" "00675" "00416870" "00000" "Familial" "46y" "stage 2 FEVR (HP:0030490), osteopenia (HP:0000938); fundus: very small hard peripheral exudates; fluorescein angiography: evidence of stage 2A familial exudative vitreoretinopathy; dual energy X-ray absorptiometry: L1 to L4 bone mineral density: 1.033 g/ cm2 (Z-score: -1.5 SD) and left total femur and neck bone mineral density were 0.905 g/cm2 (Z-score: -1.3 SD) and 0.822 g/cm2 (Z score: -1.7 SD), respectively; familial exudative vitreoretinopathy stage right/left eye: 2A/2A; bone mineral density: osteopenia" "" "" "" "" "" "" "" "" "" "" "" "" "osteoporosis-pseudoglioma syndrome (OPPG)" "" ""
"0000308381" "00675" "00416871" "00000" "Familial" "04y" "FEVR (HP:0030490), severe osteoporosis (HP:0000939); familial exudative vitreoretinopathy stage right/left eye: 5A/3B; bone mineral density: osteoporosis; 1m: retinopathy from the first month of life with complete retinal detachment in the right eye; 10m: fundus examination conducted under general anesthesia: familial exudative vitreoretinopathy diagnosis, stage right/left eye: 5A/3B; total retinal detachment right eye with disorganised proliferative tissue; vitreoretinal surgery with lensectomy, vitrectomy and membrane peeling; radial retinal fold associated with a small area of persistent vascularization extending into the vitreal cavity in the left eye; lest eye fluorescein angiography: wide area of the peripheral retina devoid of vascularization and with vascular leakage treated by Argon laser ablation; bone mineral density: severe osteoporosis; current whole body bone mineral density: 0.5 g/cm2 (Z-score: -2.5 SD)" "00y01m" "" "" "" "" "00y10m" "" "" "" "" "" "" "osteoporosis-pseudoglioma syndrome (OPPG)" "" ""
"0000308382" "00675" "00416872" "00000" "Familial, autosomal dominant" "31y" "no familial exudative vitreoretinopathy; bone mineral density: osteopenia - lumbar bone mineral density of 0.966 g/cm2 (Z-score: -1.1 SD)" "" "" "" "" "" "" "" "" "" "" "" "" "osteoporosis-pseudoglioma syndrome (OPPG)" "" ""
"0000308383" "00675" "00416873" "00000" "Familial, autosomal dominant" "31y" "no familial exudative vitreoretinopathy, no osteopenia; lumbar bone mineral density of 1.199 g/cm2 (Z-score: 1.4 SD)" "" "" "" "" "" "" "" "" "" "" "" "" "osteoporosis-pseudoglioma syndrome (OPPG)" "" ""
"0000308393" "02391" "00416881" "00000" "Familial, autosomal dominant" "1y8m" "visual acuity: fix-and-follow, minimal in the right eye; intraocular pressure: 18 mm Hg both eyes; no iris or lens abnormality; funduscopy: right eye: extensive exudative maculopathy with shallow retinal detachment and peripheral telengiectatic retinal vessels extending temporally; left fundus: clinically normal; fluorescein angiography: right eye: temporal retinal dragging, extensive peripheral retinal non-perfusion, telangiectatic vessels, left eye: minimal peripheral non-perfusion and vascular looping without dragging, telangiectasia, or leakage; right xanthocoria and slight exotropia; subclinically affected father" "" "" "" "" "" "1y8m" "xanthocoria in the right eye, with eventual exotropia" "" "" "" "" "" "familial exudative vitreoretinopathy" "" ""
"0000308394" "02391" "00416882" "00000" "Familial, autosomal dominant" "" "fundus: mild signs of FEVR: hyperacute retinal vascular branching and slight retinal vascular traction" "" "" "" "" "" "" "asymptomatic" "" "" "" "" "" "familial exudative vitreoretinopathy" "" ""
"0000308395" "02391" "00416883" "00000" "Isolated (sporadic)" "17y" "total tractional retinal detachment requiring multiple vitreoretinal surgeries in his right eye; last-recorded visual acuity 3 months earlier, right/left eye: 20/100, 20/50; ophthalmological examination at 17y: a decrease in visual acuity in his left eye to 20/63; fundus: temporal dragging of retinal vessels, peripheral exudation, and vitreoretinal tractions without retinal detachment; spectral-domain optical coherence tomography: vitreomacular traction with intraretinal cysts; central macular thickness: 283 um; re-evaluation 15 days later: progression to a lamellar macular hole; surgical procedure was suggested, 1 week later (before the surgery could be performed) acute metamorphopsia, visual acuity drop to 20/200; spectral-domain optical coherence tomography: full-thickness macular hole. Surgical management by 23-gauge pars plana vitrectomy with associated encircling buckle; posterior vitreous detachment was induced, internal limiting membrane peeled after staining with brilliant blue G, and SF6 was used as gas tamponade; 3 months postoperatively, visual acuity: 20/25. spectral-domain optical coherence tomography: sustained closure of the macular hole, with associated thinning of the neurosensory retina (central macular thickness: 166 um)" "" "" "" "" "" "13y" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" ""
"0000309978" "05296" "00418645" "04391" "Unknown" "41y" "Osteoporosis" "" "" "" "" "" "" "" "" "" "" "" "" "" "Osteogenesis Imperfecta" ""
"0000309993" "05296" "00418694" "04391" "Unknown" "52y" "juvenile osteoporosis" "" "" "" "" "" "" "" "" "" "" "" "" "" "Osteogenesis Imperfecta" ""
"0000310078" "05296" "00418780" "04391" "Unknown" "65y" "osteoporosis, juvenile\r\nfractures after minor trauma\r\nlight blue sclerae" "" "" "" "" "" "" "" "" "" "" "" "" "" "Osteogenesis Imperfecta" ""
"0000311719" "04214" "00420471" "00000" "Familial, autosomal dominant" "14y7m" "" "8y" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" ""
"0000311841" "04214" "00420593" "00000" "Familial, autosomal dominant" "10m" "" "7m" "" "" "" "" "" "" "" "" "" "" "" "famili+H604:H626exudative vitreoretinopathy" "" ""
"0000333484" "05130" "00444231" "00006" "Familial, X-linked" "3y" "see paper; ..., no strabismus, 4 Hz fine amplitude pendular nystagmus" "2y" "" "" "" "" "" "" "" "" "" "" "" "CSNB2A" "congenital stationary night blindness" ""
"0000333545" "04214" "00444292" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" ""
"0000352196" "05296" "00466833" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" ""
## Screenings ## Do not remove or alter this header ##
## Count = 428
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000100491" "00100088" "1" "01769" "01769" "2017-01-30 17:09:38" "" "" "SEQ" "DNA" "WBC" ""
"0000108056" "00107585" "0" "00006" "00006" "2009-11-21 15:24:20" "00006" "2011-01-24 22:35:43" "SEQ" "DNA" "" ""
"0000108057" "00107586" "0" "00006" "00006" "2009-11-21 15:24:20" "00006" "2011-01-24 22:38:13" "SEQ" "DNA" "" ""
"0000108058" "00107587" "0" "00006" "00006" "2009-11-21 15:24:20" "00006" "2011-01-24 22:38:13" "SEQ" "DNA" "" ""
"0000108059" "00107588" "0" "00006" "00006" "2009-11-21 15:24:20" "00006" "2011-01-24 22:33:45" "SEQ" "DNA" "" ""
"0000108060" "00107589" "0" "00006" "00006" "2009-11-21 15:24:20" "00006" "2011-01-24 22:34:49" "SEQ" "DNA" "" ""
"0000108061" "00107590" "0" "00006" "00006" "2009-11-21 15:24:20" "" "" "SEQ" "DNA" "" ""
"0000108062" "00107591" "0" "00006" "00006" "2009-11-21 15:24:20" "" "" "SEQ" "DNA" "" ""
"0000108063" "00107592" "0" "00006" "00006" "2009-11-21 15:24:20" "00006" "2011-01-24 22:34:49" "SEQ" "DNA" "" ""
"0000108064" "00107593" "0" "00006" "00006" "2009-11-21 15:24:20" "00006" "2011-01-24 22:34:49" "SEQ" "DNA" "" ""
"0000108065" "00107594" "0" "00006" "00006" "2009-11-21 15:24:20" "00006" "2011-01-24 22:35:43" "SEQ" "DNA" "" ""
"0000108066" "00107595" "0" "00006" "00006" "2009-11-21 15:24:20" "00006" "2011-01-24 22:40:12" "SSCA;SEQ" "DNA" "" ""
"0000108067" "00107596" "0" "00006" "00006" "2009-11-21 15:24:20" "00006" "2011-01-24 22:40:12" "SSCA;SEQ" "DNA" "" ""
"0000108071" "00107600" "0" "00006" "00006" "2009-11-21 15:24:20" "00006" "2011-01-24 22:35:43" "SEQ" "DNA" "" ""
"0000108075" "00107604" "0" "00006" "00006" "2009-11-21 15:24:20" "00006" "2011-01-24 22:37:04" "SEQ" "DNA" "" ""
"0000108076" "00107605" "0" "00006" "00006" "2009-11-21 15:24:20" "00006" "2011-01-24 22:39:50" "SEQ" "DNA" "" ""
"0000108077" "00107606" "0" "00006" "00006" "2009-11-21 15:24:20" "00006" "2011-01-24 22:35:43" "SEQ" "DNA" "" ""
"0000108078" "00107607" "0" "00006" "00006" "2009-11-21 15:24:20" "00006" "2011-01-24 22:35:43" "SEQ" "DNA" "" ""
"0000108079" "00107608" "0" "00006" "00006" "2009-11-21 15:24:20" "00006" "2011-01-24 22:35:43" "SEQ" "DNA" "" ""
"0000108080" "00107609" "0" "00006" "00006" "2009-11-21 15:24:20" "00006" "2011-01-24 22:35:43" "SEQ" "DNA" "" ""
"0000108081" "00107610" "0" "00006" "00006" "2009-11-21 15:24:20" "00006" "2011-01-24 22:35:43" "SEQ" "DNA" "" ""
"0000108082" "00107611" "0" "00006" "00006" "2009-11-21 15:24:20" "00006" "2011-01-24 22:35:43" "SEQ" "DNA" "" ""
"0000108083" "00107612" "0" "00006" "00006" "2009-11-21 15:24:20" "00006" "2011-01-24 22:35:43" "SEQ" "DNA" "" ""
"0000108084" "00107613" "0" "00006" "00006" "2009-11-21 15:24:20" "" "" "SEQ" "DNA" "" ""
"0000108085" "00107614" "0" "00006" "00006" "2009-11-21 15:24:20" "00006" "2011-01-24 22:35:43" "SEQ" "DNA" "" ""
"0000108086" "00107615" "0" "00006" "00006" "2009-11-21 15:24:20" "" "" "SEQ" "DNA" "" ""
"0000108087" "00107616" "0" "00006" "00006" "2009-11-21 15:24:20" "" "" "SEQ" "DNA" "" ""
"0000108088" "00107617" "0" "00006" "00006" "2009-11-21 15:24:20" "" "" "SEQ" "DNA" "" ""
"0000108089" "00107618" "0" "00006" "00006" "2009-11-21 15:24:20" "00006" "2011-01-24 22:42:09" "SEQ" "DNA" "" ""
"0000108090" "00107619" "0" "00006" "00006" "2009-11-21 15:24:20" "00006" "2011-01-24 22:42:09" "SEQ" "DNA" "" ""
"0000108091" "00107620" "0" "00006" "00006" "2009-11-21 15:24:20" "00006" "2011-01-24 22:42:09" "SEQ" "DNA" "" ""
"0000108092" "00107621" "0" "00006" "00006" "2009-11-21 15:24:20" "00006" "2011-01-24 22:42:09" "SEQ" "DNA" "" ""
"0000108093" "00107622" "0" "00006" "00006" "2009-11-21 15:24:20" "" "" "SEQ;PCRdig" "DNA" "" ""
"0000108094" "00107623" "0" "00006" "00006" "2009-11-21 15:24:20" "" "" "SEQ;PCRdig" "DNA" "" ""
"0000108095" "00107624" "0" "00006" "00006" "2009-11-21 15:24:20" "" "" "SEQ;PCRdig" "DNA" "" ""
"0000108096" "00107625" "0" "00006" "00006" "2009-11-21 15:24:20" "" "" "SEQ;PCRdig" "DNA" "" ""
"0000108097" "00107626" "0" "00006" "00006" "2009-11-21 15:24:20" "" "" "SEQ;PCRdig" "DNA" "" ""
"0000108098" "00107627" "0" "00006" "00006" "2009-11-21 15:24:20" "" "" "SEQ;PCRdig" "DNA" "" ""
"0000108099" "00107628" "0" "00006" "00006" "2009-11-21 15:24:20" "" "" "SEQ;PCRdig" "DNA" "" ""
"0000108100" "00107629" "0" "00006" "00006" "2009-11-21 15:24:20" "" "" "SEQ;PCRdig" "DNA" "" ""
"0000108101" "00107630" "0" "00006" "00006" "2009-11-21 15:24:20" "" "" "SEQ;PCRdig" "DNA" "" ""
"0000108102" "00107631" "0" "00006" "00006" "2009-11-21 15:24:20" "" "" "SEQ" "DNA" "" ""
"0000108103" "00107632" "0" "00006" "00006" "2009-11-21 15:24:20" "" "" "SEQ" "DNA" "" ""
"0000108104" "00107633" "0" "00006" "00006" "2009-11-21 15:24:20" "" "" "SEQ" "DNA" "" ""
"0000108105" "00107634" "0" "00006" "00006" "2009-11-21 15:24:20" "" "" "SEQ" "DNA" "" ""
"0000108106" "00107635" "0" "00006" "00006" "2009-11-21 15:24:20" "" "" "SEQ" "DNA" "" ""
"0000108107" "00107636" "0" "00006" "00006" "2009-11-21 15:24:20" "" "" "SEQ" "DNA" "" ""
"0000108108" "00107637" "0" "00006" "00006" "2009-11-21 15:24:20" "" "" "SEQ" "DNA" "" ""
"0000108109" "00107638" "0" "00006" "00006" "2009-11-21 15:24:20" "" "" "SEQ" "DNA" "" ""
"0000108110" "00107639" "0" "00006" "00006" "2009-11-21 15:24:20" "" "" "SEQ" "DNA" "" ""
"0000108111" "00107640" "0" "00006" "00006" "2009-11-21 15:24:20" "" "" "SEQ" "DNA" "" ""
"0000108112" "00107641" "0" "00006" "00006" "2009-11-21 15:24:20" "" "" "SEQ" "DNA" "" ""
"0000108113" "00107642" "0" "00006" "00006" "2009-11-21 15:24:20" "" "" "SEQ" "DNA" "" ""
"0000108114" "00107643" "0" "00006" "00006" "2009-11-21 15:24:20" "" "" "SEQ" "DNA" "" ""
"0000108115" "00107644" "0" "00006" "00006" "2009-11-21 15:24:20" "00006" "2011-01-24 22:40:12" "SSCA;SEQ" "DNA" "" ""
"0000108116" "00107645" "0" "00006" "00006" "2009-11-21 15:24:20" "00006" "2011-01-24 22:40:12" "SSCA;SEQ" "DNA" "" ""
"0000108117" "00107646" "0" "00006" "00006" "2009-11-21 15:24:20" "00006" "2011-01-24 22:40:12" "SSCA;SEQ" "DNA" "" ""
"0000108118" "00107647" "0" "00006" "00006" "2009-11-21 15:24:20" "00006" "2011-01-24 22:40:12" "SSCA;SEQ" "DNA" "" ""
"0000108119" "00107648" "0" "00006" "00006" "2009-11-21 15:24:20" "" "" "SSCA;SEQ" "DNA" "" ""
"0000108120" "00107649" "0" "00006" "00006" "2009-11-21 15:24:20" "" "" "SSCA;SEQ" "DNA" "" ""
"0000108121" "00107650" "0" "00006" "00006" "2009-11-21 15:24:20" "" "" "SSCA;SEQ" "DNA" "" ""
"0000108122" "00107651" "0" "00006" "00006" "2009-11-21 15:24:20" "" "" "SSCA;SEQ" "DNA" "" ""
"0000108123" "00107652" "0" "00006" "00006" "2009-11-21 15:24:20" "" "" "SSCA;SEQ" "DNA" "" ""
"0000108124" "00107653" "0" "00006" "00006" "2009-11-21 15:24:20" "" "" "SSCA;SEQ" "DNA" "" ""
"0000108125" "00107654" "0" "00006" "00006" "2009-11-21 15:24:20" "" "" "SSCA;SEQ" "DNA" "" ""
"0000108126" "00107655" "0" "00006" "00006" "2009-11-21 15:24:20" "" "" "SSCA;SEQ" "DNA" "" ""
"0000108127" "00107656" "0" "00006" "00006" "2009-11-21 15:24:20" "" "" "SSCA;SEQ" "DNA" "" ""
"0000108128" "00107657" "0" "00006" "00006" "2009-11-21 15:24:20" "" "" "SSCA;SEQ" "DNA" "" ""
"0000108129" "00107658" "0" "00006" "00006" "2009-11-21 15:24:20" "" "" "SSCA;SEQ" "DNA" "" ""
"0000108130" "00107659" "0" "00006" "00006" "2009-11-21 15:24:20" "" "" "SSCA;SEQ" "DNA" "" ""
"0000108131" "00107660" "0" "00006" "00006" "2009-11-21 15:24:20" "" "" "SSCA;SEQ" "DNA" "" ""
"0000108132" "00107661" "0" "00006" "00006" "2009-11-21 15:24:20" "" "" "SSCA;SEQ" "DNA" "" ""
"0000108133" "00107662" "0" "01251" "01685" "2010-06-06 16:06:10" "00006" "2011-01-24 22:40:12" "SEQ" "DNA" "" ""
"0000108134" "00107663" "0" "01251" "01685" "2010-06-06 16:06:10" "00006" "2011-01-24 22:40:12" "SEQ" "DNA" "" ""
"0000108135" "00107664" "0" "01251" "01685" "2010-06-06 16:06:10" "00006" "2011-01-24 22:39:50" "SEQ" "DNA" "" ""
"0000108136" "00107665" "0" "01251" "01685" "2010-06-06 16:06:10" "00006" "2011-01-24 22:40:12" "SEQ" "DNA" "" ""
"0000108137" "00107666" "0" "01251" "01685" "2010-06-11 18:15:24" "00006" "2011-01-24 22:35:43" "SEQ" "DNA" "" ""
"0000108138" "00107667" "0" "01251" "01685" "2010-06-11 18:15:24" "00006" "2011-01-24 22:35:43" "SEQ" "DNA" "" ""
"0000108139" "00107668" "0" "01251" "01685" "2010-06-11 18:15:24" "00006" "2011-01-24 22:35:43" "SEQ" "DNA" "" ""
"0000108140" "00107669" "0" "01251" "01685" "2010-06-11 18:15:24" "00006" "2011-01-24 22:35:43" "SEQ" "DNA" "" ""
"0000108141" "00107670" "0" "01251" "01685" "2010-06-11 18:15:24" "00006" "2011-01-24 22:35:43" "SEQ" "DNA" "" ""
"0000108142" "00107671" "0" "01251" "01685" "2010-06-11 18:15:24" "00006" "2011-01-24 22:35:43" "SEQ" "DNA" "" ""
"0000108143" "00107672" "0" "01251" "01685" "2010-06-11 18:15:24" "00006" "2011-01-24 22:35:43" "SEQ" "DNA" "" ""
"0000108144" "00107673" "0" "01251" "01685" "2010-06-11 18:15:24" "00006" "2011-01-24 22:35:43" "SEQ" "DNA" "" ""
"0000108145" "00107674" "0" "01251" "01685" "2010-06-11 18:15:24" "00006" "2011-01-24 22:35:43" "SEQ" "DNA" "" ""
"0000108146" "00107675" "0" "01251" "01685" "2010-06-11 18:15:24" "00006" "2011-01-24 22:35:43" "SEQ" "DNA" "" ""
"0000108147" "00107676" "0" "01251" "01685" "2010-06-11 18:15:24" "00006" "2011-01-24 22:35:43" "SEQ" "DNA" "" ""
"0000108148" "00107677" "0" "01251" "01685" "2010-06-11 18:15:24" "00006" "2011-01-24 22:35:43" "SEQ" "DNA" "" ""
"0000108149" "00107678" "0" "01251" "01685" "2010-06-11 18:15:24" "00006" "2011-01-24 22:35:43" "SEQ" "DNA" "" ""
"0000108150" "00107679" "0" "01251" "01685" "2010-06-11 18:15:24" "00006" "2011-01-24 22:35:43" "SEQ" "DNA" "" ""
"0000108151" "00107680" "0" "01251" "01685" "2010-06-11 18:15:24" "00006" "2011-01-24 22:35:43" "SEQ" "DNA" "" ""
"0000108153" "00107682" "0" "01251" "01685" "2010-06-11 18:15:24" "00006" "2011-01-24 22:35:43" "SEQ" "DNA" "" ""
"0000108154" "00107683" "0" "01251" "01685" "2010-06-11 18:15:24" "00006" "2011-01-24 22:35:43" "SEQ" "DNA" "" ""
"0000108155" "00107684" "0" "01251" "01685" "2010-06-11 18:15:24" "00006" "2011-01-24 22:35:43" "SEQ" "DNA" "" ""
"0000108157" "00107686" "0" "01251" "01685" "2010-06-11 18:15:24" "00006" "2011-01-24 22:35:43" "SEQ" "DNA" "" ""
"0000108158" "00107687" "0" "01251" "01685" "2010-06-11 18:15:24" "00006" "2011-01-24 22:35:43" "SEQ" "DNA" "" ""
"0000108159" "00107688" "0" "01251" "01685" "2010-06-11 18:15:24" "00006" "2011-01-24 22:35:43" "SEQ" "DNA" "" ""
"0000108160" "00107689" "0" "01251" "01685" "2010-06-11 18:15:24" "00006" "2011-01-24 22:35:43" "SEQ" "DNA" "" ""
"0000108161" "00107690" "0" "01251" "01685" "2010-06-11 18:15:24" "00006" "2011-01-24 22:35:43" "SEQ" "DNA" "" ""
"0000108162" "00107691" "0" "01251" "01685" "2010-06-11 18:15:24" "00006" "2011-01-24 22:35:43" "SEQ" "DNA" "" ""
"0000108163" "00107692" "0" "01251" "01685" "2010-06-11 18:15:24" "00006" "2011-01-24 22:35:43" "SEQ" "DNA" "" ""
"0000108164" "00107693" "0" "01251" "01685" "2010-06-11 18:15:24" "00006" "2011-01-24 22:35:43" "SEQ" "DNA" "" ""
"0000108165" "00107694" "0" "01251" "01685" "2010-06-11 18:15:24" "" "" "SEQ" "DNA" "" ""
"0000108166" "00107695" "0" "01251" "01685" "2010-06-11 18:15:24" "" "" "SEQ" "DNA" "" ""
"0000108167" "00107696" "0" "01251" "01685" "2010-06-11 18:15:24" "00006" "2011-01-24 22:40:12" "SEQ" "DNA" "" ""
"0000108168" "00107697" "0" "01251" "01685" "2010-06-11 18:15:24" "00006" "2011-01-24 22:40:12" "SEQ" "DNA" "" ""
"0000108169" "00107698" "0" "01251" "01685" "2010-06-11 18:15:24" "00006" "2011-01-24 22:39:50" "SEQ" "DNA" "" ""
"0000108170" "00107699" "0" "01251" "01685" "2010-06-11 18:15:24" "00006" "2011-01-24 22:39:50" "SEQ" "DNA" "" ""
"0000108171" "00107700" "0" "01251" "01685" "2010-06-11 18:15:24" "00006" "2011-01-24 22:39:50" "SEQ" "DNA" "" ""
"0000108172" "00107701" "0" "01251" "01685" "2010-06-11 18:15:24" "00006" "2011-01-24 22:40:12" "SEQ" "DNA" "" ""
"0000108173" "00107702" "0" "01251" "01685" "2010-06-11 18:15:24" "00006" "2011-01-24 22:40:12" "SEQ" "DNA" "" ""
"0000108174" "00107703" "0" "01251" "01685" "2010-06-11 18:15:24" "00006" "2011-01-24 22:35:43" "SEQ" "DNA" "" ""
"0000108175" "00107704" "0" "01251" "01685" "2010-06-11 18:15:24" "" "" "SEQ" "DNA" "" ""
"0000108176" "00107705" "0" "01251" "01685" "2010-06-11 18:15:24" "00006" "2011-01-24 22:40:12" "SEQ" "DNA" "" ""
"0000108177" "00107706" "0" "01251" "01685" "2010-06-11 18:15:24" "" "" "SEQ" "DNA" "" ""
"0000108178" "00107707" "0" "01251" "01685" "2010-06-11 18:15:24" "" "" "SEQ" "DNA" "" ""
"0000108179" "00107708" "0" "01251" "01685" "2010-06-11 18:15:24" "00006" "2011-01-24 22:35:43" "SEQ" "DNA" "" ""
"0000108180" "00107709" "0" "01251" "01685" "2010-06-11 18:15:24" "00006" "2011-01-24 22:35:43" "SEQ" "DNA" "" ""
"0000108181" "00107710" "0" "01251" "01685" "2010-06-11 18:15:24" "" "" "SEQ" "DNA" "" ""
"0000108182" "00107711" "0" "01251" "01685" "2010-06-11 18:15:24" "" "" "SEQ" "DNA" "" ""
"0000108183" "00107712" "0" "02149" "02149" "2017-06-22 03:40:56" "" "" "SEQ-NG" "DNA" "" ""
"0000144621" "00143763" "1" "02335" "02335" "2017-12-05 10:29:10" "" "" "SEQ" "DNA" "" ""
"0000272530" "00271379" "1" "03383" "03383" "2019-12-18 17:15:27" "" "" "SEQ" "DNA" "peripheral blood" ""
"0000274322" "00271380" "1" "03383" "03383" "2019-12-20 18:06:49" "" "" "SEQ" "DNA" "peripheral blood" "gene panel"
"0000275372" "00274074" "1" "03383" "03383" "2019-12-25 10:12:49" "" "" "PCRm" "DNA" "" "direct sequencing"
"0000275374" "00274216" "1" "03383" "03383" "2019-12-25 10:43:19" "" "" "PCRm" "DNA" "" "direct sequencing"
"0000275375" "00274217" "1" "03383" "03383" "2019-12-25 10:51:17" "" "" "PCRm" "DNA" "" "direct sequencing"
"0000275376" "00274218" "1" "03383" "03383" "2019-12-25 13:29:23" "" "" "SEQ" "DNA" "peripheral venous blood" "gene panel"
"0000275377" "00274219" "1" "03383" "03383" "2019-12-25 13:37:48" "" "" "SEQ" "DNA" "peripheral venous blood" "gene panel"
"0000275379" "00274220" "1" "03383" "03383" "2019-12-25 20:05:21" "" "" "SEQ" "DNA" "peripheral venous blood" "gene panel"
"0000275380" "00274223" "1" "03383" "03383" "2019-12-26 00:49:26" "" "" "SSCA" "DNA" "" "direct sequencing"
"0000275381" "00274224" "1" "03383" "03383" "2019-12-26 00:58:27" "" "" "SSCA" "DNA" "" "direct sequencing"
"0000275382" "00274225" "1" "03383" "03383" "2019-12-26 01:09:54" "" "" "SSCA" "DNA" "" "direct sequencing"
"0000275383" "00274226" "1" "03383" "03383" "2019-12-26 01:17:38" "" "" "SSCA" "DNA" "" "direct sequencing"
"0000275384" "00274227" "1" "03383" "03383" "2019-12-26 01:26:09" "" "" "SSCA" "DNA" "" "direct sequencing"
"0000275385" "00274229" "1" "03383" "03383" "2019-12-26 01:34:31" "" "" "SSCA" "DNA" "" "direct sequencing"
"0000275432" "00274228" "1" "03383" "03383" "2019-12-27 16:59:20" "" "" "?" "DNA" "" "direct sequencing"
"0000275435" "00274278" "1" "03383" "03383" "2019-12-27 17:38:30" "" "" "SEQ-NG-I" "DNA" "" "WES"
"0000275436" "00274279" "1" "03383" "03383" "2019-12-27 17:46:18" "" "" "SEQ-NG-I" "DNA" "" "WES"
"0000275437" "00274280" "1" "03383" "03383" "2019-12-27 17:52:32" "" "" "SEQ-NG-I" "DNA" "" "WES"
"0000275438" "00274281" "1" "03383" "03383" "2019-12-27 17:59:02" "" "" "SEQ-NG-I" "DNA" "" "WES"
"0000275439" "00274282" "1" "03383" "03383" "2019-12-27 18:39:38" "" "" "SEQ" "DNA" "" "direct sequencing"
"0000275440" "00274283" "1" "03383" "03383" "2019-12-27 19:39:54" "" "" "SEQ" "DNA" "" "direct sequencing"
"0000275441" "00274283" "1" "03383" "03383" "2019-12-27 19:45:21" "" "" "?" "DNA" "" "WGS"
"0000275475" "00274289" "1" "03383" "03383" "2019-12-28 17:59:32" "" "" "PCR" "DNA" "" "direct sequencing"
"0000275612" "00274359" "1" "03383" "03383" "2019-12-30 23:32:36" "" "" "PCR" "DNA" "" "gene panel"
"0000275613" "00274453" "1" "03383" "03383" "2019-12-31 00:30:55" "" "" "PCR" "DNA" "" "gene panel"
"0000332531" "00331311" "1" "00006" "00006" "2021-02-11 12:05:31" "" "" "SEQ-NG" "DNA" "" ""
"0000333479" "00332259" "1" "00006" "00006" "2021-02-16 10:21:28" "" "" "SEQ-NG" "DNA" "" ""
"0000333515" "00332295" "1" "00000" "00006" "2021-02-16 19:20:15" "" "" "SEQ" "DNA" "" ""
"0000333516" "00332296" "1" "00000" "00006" "2021-02-16 19:20:15" "" "" "SEQ" "DNA" "" ""
"0000333517" "00332297" "1" "00000" "00006" "2021-02-16 19:20:15" "" "" "SEQ" "DNA" "" ""
"0000333518" "00332298" "1" "00000" "00006" "2021-02-16 19:20:15" "" "" "SEQ" "DNA" "" ""
"0000333519" "00332299" "1" "00000" "00006" "2021-02-16 19:20:15" "" "" "SEQ" "DNA" "" ""
"0000333520" "00332300" "1" "00000" "00006" "2021-02-16 19:20:15" "" "" "SEQ" "DNA" "" ""
"0000333521" "00332301" "1" "00000" "00006" "2021-02-16 19:20:15" "" "" "SEQ" "DNA" "" ""
"0000333522" "00332302" "1" "00000" "00006" "2021-02-16 19:20:15" "" "" "SEQ" "DNA" "" ""
"0000333528" "00332308" "1" "00000" "00006" "2021-02-16 19:20:15" "" "" "SEQ" "DNA" "" ""
"0000333529" "00332309" "1" "00000" "00006" "2021-02-16 19:20:15" "" "" "SEQ" "DNA" "" ""
"0000334598" "00333373" "1" "00000" "00006" "2021-02-25 11:19:20" "" "" "SEQ;SEQ-NG" "DNA" "" "790-gene panel"
"0000334600" "00333375" "1" "00000" "00006" "2021-02-25 11:19:20" "" "" "SEQ;SEQ-NG" "DNA" "" "790-gene panel"
"0000334652" "00333427" "1" "00000" "00006" "2021-02-25 11:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "184-gene panel"
"0000336124" "00334895" "1" "00000" "00006" "2021-03-02 11:57:03" "" "" "SEQ-NG" "DNA" "" "WES"
"0000336434" "00335205" "1" "00000" "00006" "2021-03-04 13:13:00" "" "" "arraySNP;SEQ-NG" "DNA" "" "gene panel"
"0000336435" "00335206" "1" "00000" "00006" "2021-03-04 13:13:00" "" "" "arraySNP;SEQ-NG" "DNA" "" "gene panel"
"0000336436" "00335207" "1" "00000" "00006" "2021-03-04 13:13:00" "" "" "arraySNP;SEQ-NG" "DNA" "" "gene panel"
"0000336438" "00335209" "1" "00000" "00006" "2021-03-04 13:13:00" "" "" "arraySNP;SEQ-NG" "DNA" "" "gene panel"
"0000336440" "00335211" "1" "00000" "00006" "2021-03-04 13:13:00" "" "" "arraySNP;SEQ-NG" "DNA" "" "gene panel"
"0000336442" "00335213" "1" "00000" "00006" "2021-03-04 13:13:00" "" "" "arraySNP;SEQ-NG" "DNA" "" "gene panel"
"0000360210" "00358973" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES"
"0000360287" "00359049" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel"
"0000364830" "00363602" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000364868" "00363640" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000365060" "00363832" "1" "00000" "00006" "2021-04-30 10:20:18" "" "" "SEQ" "DNA" "" ""
"0000365061" "00363833" "1" "00000" "00006" "2021-04-30 10:20:18" "" "" "SEQ" "DNA" "" ""
"0000365062" "00363834" "1" "00000" "00006" "2021-04-30 10:20:18" "" "" "SEQ" "DNA" "" ""
"0000365063" "00363835" "1" "00000" "00006" "2021-04-30 10:20:18" "" "" "SEQ" "DNA" "" ""
"0000365066" "00363838" "1" "00000" "00006" "2021-04-30 10:20:18" "" "" "SEQ" "DNA" "" ""
"0000365067" "00363839" "1" "00000" "00006" "2021-04-30 10:20:18" "" "" "SEQ" "DNA" "" ""
"0000365071" "00363843" "1" "00000" "00006" "2021-04-30 10:20:18" "" "" "SEQ" "DNA" "" ""
"0000373752" "00372519" "1" "00006" "00006" "2021-05-08 11:34:03" "" "" "SEQ-NG" "DNA" "" ""
"0000373857" "00372625" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000373903" "00372671" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000374660" "00373425" "1" "00000" "00006" "2021-05-14 15:17:31" "" "" "SEQ-NG" "DNA" "" "163-gene panel"
"0000374661" "00373426" "1" "00000" "00006" "2021-05-14 15:17:31" "" "" "SEQ-NG" "DNA" "" "163-gene panel"
"0000374662" "00373427" "1" "00000" "00006" "2021-05-14 15:31:46" "" "" "SEQ-NG" "DNA" "" "163-gene panel"
"0000374663" "00373428" "1" "00000" "00006" "2021-05-14 15:31:46" "" "" "SEQ-NG" "DNA" "" "163-gene panel"
"0000374664" "00373429" "1" "00000" "00006" "2021-05-14 15:31:46" "" "" "SEQ-NG" "DNA" "" "163-gene panel"
"0000374665" "00373430" "1" "00000" "00006" "2021-05-14 15:31:46" "" "" "SEQ-NG" "DNA" "" "163-gene panel"
"0000374666" "00373431" "1" "00000" "00006" "2021-05-14 15:31:46" "" "" "SEQ-NG" "DNA" "" "163-gene panel"
"0000374667" "00373432" "1" "00000" "00006" "2021-05-14 15:31:46" "" "" "SEQ-NG" "DNA" "" "163-gene panel"
"0000374668" "00373433" "1" "00000" "00006" "2021-05-14 15:31:46" "" "" "SEQ-NG" "DNA" "" "163-gene panel"
"0000374669" "00373434" "1" "00000" "00006" "2021-05-14 15:31:46" "" "" "SEQ-NG" "DNA" "" "163-gene panel"
"0000374670" "00373435" "1" "00000" "00006" "2021-05-14 15:31:46" "" "" "SEQ-NG" "DNA" "" "163-gene panel"
"0000374671" "00373436" "1" "00000" "00006" "2021-05-14 15:31:46" "" "" "SEQ-NG" "DNA" "" "163-gene panel"
"0000374672" "00373437" "1" "00000" "00006" "2021-05-14 15:31:46" "" "" "SEQ-NG" "DNA" "" "163-gene panel"
"0000374673" "00373438" "1" "00000" "00006" "2021-05-14 15:31:46" "" "" "SEQ-NG" "DNA" "" "163-gene panel"
"0000374674" "00373439" "1" "00000" "00006" "2021-05-14 15:31:46" "" "" "SEQ-NG" "DNA" "" "163-gene panel"
"0000374675" "00373440" "1" "00000" "00006" "2021-05-14 15:31:46" "" "" "SEQ-NG" "DNA" "" "163-gene panel"
"0000374676" "00373441" "1" "00000" "00006" "2021-05-14 15:31:46" "" "" "SEQ-NG" "DNA" "" "163-gene panel"
"0000374697" "00373462" "1" "00000" "00006" "2021-05-14 15:31:46" "" "" "SEQ-NG" "DNA" "" "163-gene panel"
"0000374698" "00373463" "1" "00000" "00006" "2021-05-14 15:31:46" "" "" "SEQ-NG" "DNA" "" "163-gene panel"
"0000375189" "00373957" "1" "00006" "00006" "2021-05-21 16:14:10" "" "" "SEQ-NG" "DNA" "" ""
"0000376610" "00375413" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES"
"0000376623" "00375426" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES"
"0000377726" "00376521" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "SEQ" "DNA" "blood" ""
"0000377727" "00376522" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "SEQ" "DNA" "blood" ""
"0000381005" "00379802" "1" "03508" "03508" "2021-08-10 06:22:56" "" "" "SEQ-NG-I" "DNA" "" ""
"0000381489" "00380275" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ" "DNA" "blood" ""
"0000381490" "00380276" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ" "DNA" "blood" ""
"0000381491" "00380277" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ" "DNA" "blood" ""
"0000381492" "00380278" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ" "DNA" "blood" ""
"0000381493" "00380279" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ" "DNA" "blood" ""
"0000381494" "00380280" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ" "DNA" "blood" ""
"0000381495" "00380281" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ" "DNA" "blood" ""
"0000381962" "00380748" "1" "00000" "03840" "2021-08-23 12:02:42" "" "" "SEQ-NG" "DNA" "blood" ""
"0000381963" "00380749" "1" "00000" "03840" "2021-08-23 12:02:42" "" "" "SEQ-NG" "DNA" "blood" ""
"0000381964" "00380750" "1" "00000" "03840" "2021-08-23 12:02:42" "" "" "SEQ-NG" "DNA" "blood" ""
"0000381965" "00380751" "1" "00000" "03840" "2021-08-23 12:02:42" "" "" "SEQ-NG" "DNA" "blood" ""
"0000381966" "00380752" "1" "00000" "03840" "2021-08-23 12:02:42" "" "" "SEQ-NG" "DNA" "blood" ""
"0000381967" "00380753" "1" "00000" "03840" "2021-08-23 12:02:42" "" "" "SEQ-NG" "DNA" "blood" ""
"0000381968" "00380754" "1" "00000" "03840" "2021-08-23 12:02:42" "" "" "SEQ-NG" "DNA" "blood" ""
"0000381969" "00380755" "1" "00000" "03840" "2021-08-23 12:02:42" "" "" "SEQ-NG" "DNA" "blood" ""
"0000381970" "00380756" "1" "00000" "03840" "2021-08-23 12:02:42" "" "" "SEQ-NG" "DNA" "blood" ""
"0000381974" "00380760" "1" "00000" "03840" "2021-08-23 12:02:42" "" "" "SEQ-NG" "DNA" "blood" ""
"0000382309" "00381095" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ;PCR" "DNA" "blood" ""
"0000382310" "00381096" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ;PCR" "DNA" "blood" ""
"0000382311" "00381097" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ;PCR" "DNA" "blood" ""
"0000383028" "00381812" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "PCR;SEQ-NG" "DNA" "blood or a saliva sample" ""
"0000383029" "00381813" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "PCR;SEQ-NG" "DNA" "blood or a saliva sample" ""
"0000383176" "00381960" "1" "00000" "03840" "2021-09-06 15:35:13" "" "" "SEQ-NG" "DNA" "blood" "whole exome sequencing"
"0000383244" "00382028" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383245" "00382029" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383246" "00382030" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383247" "00382031" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383248" "00382032" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383249" "00382033" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383250" "00382034" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383251" "00382035" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383252" "00382036" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383253" "00382037" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383254" "00382038" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383255" "00382039" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383256" "00382040" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383257" "00382041" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383258" "00382042" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383259" "00382043" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383260" "00382044" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383261" "00382045" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383262" "00382046" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383263" "00382047" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383264" "00382048" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383265" "00382049" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383266" "00382050" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383267" "00382051" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383268" "00382052" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383269" "00382053" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383270" "00382054" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383271" "00382055" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383272" "00382056" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383273" "00382057" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383274" "00382058" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383275" "00382059" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383276" "00382060" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383277" "00382061" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383278" "00382062" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383279" "00382063" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383280" "00382064" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383281" "00382065" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383282" "00382066" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383283" "00382067" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383284" "00382068" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383285" "00382069" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383286" "00382070" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383287" "00382071" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383288" "00382072" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383289" "00382073" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383290" "00382074" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383291" "00382075" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383292" "00382076" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383293" "00382077" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383294" "00382078" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383295" "00382079" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383296" "00382080" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383297" "00382081" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383298" "00382082" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383299" "00382083" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383300" "00382084" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383301" "00382085" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383302" "00382086" "1" "00000" "03840" "2021-09-07 10:02:56" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383975" "00382759" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "PCR;SEQ" "DNA" "blood" ""
"0000383976" "00382760" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "PCR;SEQ" "DNA" "blood" ""
"0000383979" "00382763" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "PCR;SEQ" "DNA" "blood" ""
"0000383980" "00382764" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "PCR;SEQ" "DNA" "blood" ""
"0000383981" "00382765" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "PCR;SEQ" "DNA" "blood" ""
"0000383982" "00382766" "1" "00000" "00008" "2021-09-13 01:01:20" "00006" "2022-09-18 13:03:37" "PCR;SEQ" "DNA" "blood" ""
"0000383983" "00382767" "1" "00000" "00008" "2021-09-13 01:01:20" "00006" "2022-09-18 13:17:02" "PCR;SEQ" "DNA" "blood" ""
"0000383984" "00382768" "1" "00000" "00008" "2021-09-13 01:01:20" "00006" "2022-09-18 13:04:47" "PCR;SEQ" "DNA" "blood" ""
"0000383985" "00382769" "1" "00000" "00008" "2021-09-13 01:01:20" "00006" "2022-09-18 13:19:23" "PCR;SEQ" "DNA" "blood" ""
"0000383986" "00382770" "1" "00000" "00008" "2021-09-13 01:01:20" "00006" "2022-09-18 13:21:37" "PCR;SEQ" "DNA" "blood" ""
"0000383987" "00382771" "1" "00000" "00008" "2021-09-13 01:01:20" "00006" "2022-09-18 13:24:07" "PCR;SEQ" "DNA" "blood" ""
"0000383988" "00382772" "1" "00000" "00008" "2021-09-13 01:01:20" "00006" "2022-09-18 13:26:11" "PCR;SEQ" "DNA" "blood" ""
"0000383989" "00382773" "1" "00000" "00008" "2021-09-13 01:01:20" "00006" "2022-09-18 13:28:30" "PCR;SEQ" "DNA" "blood" ""
"0000384767" "00383542" "1" "00000" "03840" "2021-09-29 12:07:04" "" "" "SEQ-NG" "DNA" "blood" ""
"0000384768" "00383543" "1" "00000" "03840" "2021-09-29 12:07:04" "" "" "SEQ-NG" "DNA" "blood" ""
"0000384769" "00383544" "1" "00000" "03840" "2021-09-29 12:07:04" "" "" "SEQ-NG" "DNA" "blood" ""
"0000384770" "00383545" "1" "00000" "03840" "2021-09-29 12:07:04" "" "" "SEQ-NG" "DNA" "blood" ""
"0000384771" "00383546" "1" "00000" "03840" "2021-09-29 12:07:04" "" "" "SEQ-NG" "DNA" "blood" ""
"0000384772" "00383547" "1" "00000" "03840" "2021-09-29 12:07:04" "" "" "SEQ-NG" "DNA" "blood" ""
"0000384773" "00383548" "1" "00000" "03840" "2021-09-29 12:07:04" "" "" "SEQ-NG" "DNA" "blood" ""
"0000384774" "00383549" "1" "00000" "03840" "2021-09-29 12:07:04" "" "" "SEQ-NG" "DNA" "blood" ""
"0000384775" "00383550" "1" "00000" "03840" "2021-09-29 12:07:04" "" "" "SEQ-NG" "DNA" "blood" ""
"0000384776" "00383551" "1" "00000" "03840" "2021-09-29 12:07:04" "" "" "SEQ-NG" "DNA" "blood" ""
"0000384777" "00383552" "1" "00000" "03840" "2021-09-29 12:07:04" "" "" "SEQ-NG" "DNA" "blood" ""
"0000384778" "00383553" "1" "00000" "03840" "2021-09-29 12:07:04" "" "" "SEQ-NG" "DNA" "blood" ""
"0000384779" "00383554" "1" "00000" "03840" "2021-09-29 12:07:04" "" "" "SEQ-NG" "DNA" "blood" ""
"0000384780" "00383555" "1" "00000" "03840" "2021-09-29 12:07:04" "" "" "SEQ-NG" "DNA" "blood" ""
"0000384781" "00383556" "1" "00000" "03840" "2021-09-29 12:07:04" "" "" "SEQ-NG" "DNA" "blood" ""
"0000384782" "00383557" "1" "00000" "03840" "2021-09-29 12:07:04" "" "" "SEQ-NG" "DNA" "blood" ""
"0000384783" "00383558" "1" "00000" "03840" "2021-09-29 12:07:04" "" "" "SEQ-NG" "DNA" "blood" ""
"0000384784" "00383559" "1" "00000" "03840" "2021-09-29 12:07:04" "" "" "SEQ-NG" "DNA" "blood" ""
"0000384837" "00383612" "1" "00000" "03840" "2021-09-29 12:15:15" "" "" "SEQ-NG;SEQ" "DNA" "blood" "paediatric disease gene panel"
"0000384838" "00383613" "1" "00000" "03840" "2021-09-29 12:15:15" "" "" "SEQ" "DNA" "blood" "paediatric disease gene panel"
"0000384839" "00383614" "1" "00000" "03840" "2021-09-29 12:15:15" "" "" "SEQ" "DNA" "blood" "paediatric disease gene panel"
"0000384840" "00383615" "1" "00000" "03840" "2021-09-29 12:15:15" "" "" "SEQ" "DNA" "blood" "paediatric disease gene panel"
"0000384841" "00383616" "1" "00000" "03840" "2021-09-29 12:15:15" "" "" "SEQ" "DNA" "blood" "paediatric disease gene panel"
"0000384842" "00383617" "1" "00000" "03840" "2021-09-29 12:15:15" "" "" "SEQ" "DNA" "blood" "paediatric disease gene panel"
"0000384843" "00383618" "1" "00000" "03840" "2021-09-29 12:15:15" "" "" "SEQ-NG;SEQ" "DNA" "blood" "paediatric disease gene panel"
"0000384844" "00383619" "1" "00000" "03840" "2021-09-29 12:15:15" "" "" "SEQ" "DNA" "blood" "paediatric disease gene panel"
"0000384845" "00383620" "1" "00000" "03840" "2021-09-29 12:15:15" "" "" "SEQ-NG;SEQ" "DNA" "blood" "paediatric disease gene panel"
"0000384846" "00383621" "1" "00000" "03840" "2021-09-29 12:15:15" "" "" "SEQ" "DNA" "blood" "paediatric disease gene panel"
"0000384847" "00383622" "1" "00000" "03840" "2021-09-29 12:15:15" "" "" "SEQ-NG;SEQ" "DNA" "blood" "paediatric disease gene panel"
"0000384848" "00383623" "1" "00000" "03840" "2021-09-29 12:15:15" "" "" "SEQ-NG;SEQ" "DNA" "blood" "paediatric disease gene panel"
"0000384849" "00383624" "1" "00000" "03840" "2021-09-29 12:15:15" "" "" "SEQ" "DNA" "blood" "paediatric disease gene panel"
"0000384850" "00383625" "1" "00000" "03840" "2021-09-29 12:15:15" "" "" "SEQ-NG;SEQ" "DNA" "blood" "paediatric disease gene panel"
"0000384851" "00383626" "1" "00000" "03840" "2021-09-29 12:15:15" "" "" "SEQ-NG;SEQ" "DNA" "blood" "paediatric disease gene panel"
"0000384852" "00383627" "1" "00000" "03840" "2021-09-29 12:15:15" "" "" "SEQ-NG;SEQ" "DNA" "blood" "paediatric disease gene panel"
"0000384853" "00383628" "1" "00000" "03840" "2021-09-29 12:15:15" "" "" "SEQ" "DNA" "blood" "paediatric disease gene panel"
"0000384854" "00383629" "1" "00000" "03840" "2021-09-29 12:15:15" "" "" "SEQ-NG;SEQ" "DNA" "blood" "paediatric disease gene panel"
"0000384855" "00383630" "1" "00000" "03840" "2021-09-29 12:15:15" "" "" "SEQ" "DNA" "blood" "paediatric disease gene panel"
"0000384856" "00383631" "1" "00000" "03840" "2021-09-29 12:15:15" "" "" "SEQ-NG;SEQ" "DNA" "blood" "paediatric disease gene panel"
"0000384857" "00383632" "1" "00000" "03840" "2021-09-29 12:15:15" "" "" "SEQ" "DNA" "blood" "paediatric disease gene panel"
"0000384858" "00383633" "1" "00000" "03840" "2021-09-29 12:15:15" "" "" "SEQ-NG;SEQ" "DNA" "blood" "paediatric disease gene panel"
"0000384859" "00383634" "1" "00000" "03840" "2021-09-29 12:15:15" "" "" "SEQ-NG;SEQ" "DNA" "blood" "paediatric disease gene panel"
"0000384860" "00383635" "1" "00000" "03840" "2021-09-29 12:15:15" "" "" "SEQ-NG;SEQ" "DNA" "blood" "paediatric disease gene panel"
"0000384861" "00383636" "1" "00000" "03840" "2021-09-29 12:15:15" "" "" "SEQ-NG;SEQ" "DNA" "blood" "paediatric disease gene panel"
"0000384862" "00383637" "1" "00000" "03840" "2021-09-29 12:15:15" "" "" "SEQ" "DNA" "blood" "paediatric disease gene panel"
"0000384936" "00383711" "1" "00000" "03840" "2021-09-29 12:31:11" "" "" "SEQ-NG;SEQ" "DNA" "blood" ""
"0000384937" "00383712" "1" "00000" "03840" "2021-09-29 12:31:11" "" "" "SEQ-NG;SEQ" "DNA" "blood" ""
"0000384938" "00383713" "1" "00000" "03840" "2021-09-29 12:31:11" "" "" "SEQ-NG;SEQ" "DNA" "blood" ""
"0000384939" "00383714" "1" "00000" "03840" "2021-09-29 12:31:11" "" "" "SEQ-NG;SEQ" "DNA" "blood" ""
"0000384940" "00383715" "1" "00000" "03840" "2021-09-29 12:31:11" "" "" "SEQ-NG;SEQ" "DNA" "blood" ""
"0000384941" "00383716" "1" "00000" "03840" "2021-09-29 12:31:11" "" "" "SEQ-NG;SEQ" "DNA" "blood" ""
"0000384942" "00383717" "1" "00000" "03840" "2021-09-29 12:31:11" "" "" "SEQ-NG;SEQ" "DNA" "blood" ""
"0000384943" "00383718" "1" "00000" "03840" "2021-09-29 12:31:11" "" "" "SEQ-NG;SEQ" "DNA" "blood" ""
"0000384944" "00383719" "1" "00000" "03840" "2021-09-29 12:31:11" "" "" "SEQ-NG;SEQ" "DNA" "blood" ""
"0000384945" "00383720" "1" "00000" "03840" "2021-09-29 12:31:11" "" "" "SEQ-NG;SEQ" "DNA" "blood" ""
"0000384946" "00383721" "1" "00000" "03840" "2021-09-29 12:31:11" "" "" "SEQ-NG;SEQ" "DNA" "blood" ""
"0000384956" "00383731" "1" "00000" "03840" "2021-09-29 12:36:52" "" "" "SEQ-NG" "DNA" "blood" "WES"
"0000384957" "00383732" "1" "00000" "03840" "2021-09-29 12:36:52" "" "" "SEQ-NG" "DNA" "blood" "WES"
"0000384958" "00383733" "1" "00000" "03840" "2021-09-29 12:36:52" "" "" "SEQ-NG" "DNA" "blood" "WES"
"0000385458" "00384233" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385506" "00384281" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385531" "00384306" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385552" "00384327" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385561" "00384336" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385568" "00384343" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385587" "00384362" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385589" "00384364" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385594" "00384369" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385596" "00384371" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385628" "00384403" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385658" "00384433" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385661" "00384436" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385690" "00384465" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385692" "00384467" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385706" "00384481" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385708" "00384483" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385721" "00384496" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000387032" "00385804" "1" "00000" "03840" "2021-10-15 13:34:46" "" "" "SEQ-NG" "DNA" "blood" "custom genetic pediatric retinal disease panel (Tang et al., 2017)"
"0000387033" "00385805" "1" "00000" "03840" "2021-10-15 13:34:46" "" "" "SEQ-NG" "DNA" "blood" "custom genetic pediatric retinal disease panel (Tang et al., 2017)"
"0000387034" "00385806" "1" "00000" "03840" "2021-10-15 13:34:46" "" "" "SEQ-NG" "DNA" "blood" "custom genetic pediatric retinal disease panel (Tang et al., 2017)"
"0000387035" "00385807" "1" "00000" "03840" "2021-10-15 13:34:46" "" "" "SEQ-NG" "DNA" "blood" "custom genetic pediatric retinal disease panel (Tang et al., 2017)"
"0000387036" "00385808" "1" "00000" "03840" "2021-10-15 13:34:46" "" "" "SEQ-NG" "DNA" "blood" "custom genetic pediatric retinal disease panel (Tang et al., 2017)"
"0000387037" "00385809" "1" "00000" "03840" "2021-10-15 13:34:46" "" "" "SEQ-NG" "DNA" "blood" "custom genetic pediatric retinal disease panel (Tang et al., 2017)"
"0000387038" "00385810" "1" "00000" "03840" "2021-10-15 13:34:46" "" "" "SEQ-NG" "DNA" "blood" "custom genetic pediatric retinal disease panel (Tang et al., 2017)"
"0000387039" "00385811" "1" "00000" "03840" "2021-10-15 13:34:46" "" "" "SEQ-NG" "DNA" "blood" "custom genetic pediatric retinal disease panel (Tang et al., 2017)"
"0000389292" "00388053" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ" "DNA" "blood" ""
"0000389293" "00388054" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ" "DNA" "blood" ""
"0000389294" "00388055" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ" "DNA" "blood" ""
"0000389295" "00388056" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ" "DNA" "blood" ""
"0000389296" "00388057" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ" "DNA" "blood" ""
"0000389475" "00388236" "1" "00000" "03840" "2021-11-03 10:13:08" "" "" "SEQ-NG" "DNA" "blood" "targeted next-generation sequencing in six FEVR known genes"
"0000389476" "00388237" "1" "00000" "03840" "2021-11-03 10:13:08" "" "" "SEQ-NG" "DNA" "blood" "targeted next-generation sequencing in six FEVR known genes"
"0000389495" "00388256" "1" "00000" "03840" "2021-11-03 10:13:08" "" "" "SEQ-NG" "DNA" "blood" "targeted next-generation sequencing in six FEVR known genes"
"0000389496" "00388257" "1" "00000" "03840" "2021-11-03 10:13:08" "" "" "SEQ-NG" "DNA" "blood" "targeted next-generation sequencing in six FEVR known genes"
"0000389730" "00388489" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "CNV gene panel next-generation sequencing"
"0000391542" "00390301" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391543" "00390302" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000393035" "00391792" "1" "00000" "03840" "2021-11-19 11:12:21" "" "" "SEQ-NG" "DNA" "blood" ""
"0000393036" "00391793" "1" "00000" "03840" "2021-11-19 11:12:21" "" "" "SEQ-NG" "DNA" "blood" ""
"0000393037" "00391794" "1" "00000" "03840" "2021-11-19 11:12:21" "" "" "SEQ-NG" "DNA" "blood" ""
"0000394945" "00393697" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000397163" "00395924" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes"
"0000397178" "00395939" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes"
"0000398619" "00397379" "1" "00006" "00006" "2021-12-20 15:54:33" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000407771" "00406528" "1" "00006" "00006" "2022-03-31 19:39:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000407773" "00406529" "1" "00006" "00006" "2022-03-31 19:43:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000415040" "00413760" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG" "DNA" "" ""
"0000418142" "00416859" "1" "00000" "03840" "2022-09-08 15:16:45" "" "" "STR;SEQ" "DNA" "blood" ""
"0000418143" "00416860" "1" "00000" "03840" "2022-09-08 15:16:45" "" "" "STR;SEQ" "DNA" "blood" ""
"0000418144" "00416861" "1" "00000" "03840" "2022-09-08 15:16:45" "" "" "STR;SEQ" "DNA" "blood" ""
"0000418151" "00416869" "1" "00000" "03840" "2022-09-08 21:04:11" "03840" "2022-09-09 10:25:11" "SEQ" "DNA" "blood" "anna_tracewska"
"0000418152" "00416870" "1" "00000" "03840" "2022-09-08 21:04:11" "03840" "2022-09-09 10:23:16" "SEQ;STR" "DNA" "blood" ""
"0000418153" "00416871" "1" "00000" "03840" "2022-09-08 21:04:11" "03840" "2022-09-09 10:30:21" "SEQ" "DNA" "blood" ""
"0000418154" "00416872" "1" "00000" "03840" "2022-09-08 21:04:11" "03840" "2022-09-09 10:33:23" "SEQ" "DNA" "blood" ""
"0000418155" "00416873" "1" "00000" "03840" "2022-09-08 21:04:11" "03840" "2022-09-09 10:35:02" "SEQ" "DNA" "blood" ""
"0000418164" "00416881" "1" "00000" "03840" "2022-09-09 11:17:36" "" "" "SEQ" "DNA" "blood" "FZD4, NDP, TSPAN12, LRP5 screened"
"0000418165" "00416882" "1" "00000" "03840" "2022-09-09 11:17:36" "" "" "SEQ" "DNA" "blood" ""
"0000418166" "00416883" "1" "00000" "03840" "2022-09-09 11:38:01" "" "" "SEQ" "DNA" "blood" ""
"0000419943" "00418645" "1" "04391" "04391" "2022-10-03 15:55:20" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000419990" "00418694" "1" "04391" "04391" "2022-10-04 16:01:52" "" "" "SEQ;SEQ-NG" "DNA" "" "NGS 586/1096 reads"
"0000420083" "00418780" "1" "04391" "04391" "2022-10-06 15:56:44" "" "" "SEQ;SEQ-NG" "DNA" "" "NGS 383/767 reads"
"0000421780" "00420471" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes"
"0000421902" "00420593" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes"
"0000445729" "00444231" "1" "00006" "00006" "2023-12-21 09:57:54" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000445866" "00444292" "1" "00006" "00006" "2023-12-21 19:04:03" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000468497" "00466833" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 451
"{{screeningid}}" "{{geneid}}"
"0000100491" "USH2A"
"0000108056" "LRP5"
"0000108057" "LRP5"
"0000108058" "LRP5"
"0000108059" "LRP5"
"0000108060" "LRP5"
"0000108061" "LRP5"
"0000108062" "LRP5"
"0000108063" "LRP5"
"0000108064" "LRP5"
"0000108065" "LRP5"
"0000108066" "LRP5"
"0000108067" "LRP5"
"0000108071" "LRP5"
"0000108075" "LRP5"
"0000108076" "LRP5"
"0000108077" "LRP5"
"0000108078" "LRP5"
"0000108079" "LRP5"
"0000108080" "LRP5"
"0000108081" "LRP5"
"0000108082" "LRP5"
"0000108083" "LRP5"
"0000108084" "LRP5"
"0000108085" "LRP5"
"0000108086" "LRP5"
"0000108087" "LRP5"
"0000108088" "LRP5"
"0000108089" "LRP5"
"0000108090" "LRP5"
"0000108091" "LRP5"
"0000108092" "LRP5"
"0000108093" "LRP5"
"0000108094" "LRP5"
"0000108095" "LRP5"
"0000108096" "LRP5"
"0000108097" "LRP5"
"0000108098" "LRP5"
"0000108099" "LRP5"
"0000108100" "LRP5"
"0000108101" "LRP5"
"0000108102" "LRP5"
"0000108103" "LRP5"
"0000108104" "LRP5"
"0000108105" "LRP5"
"0000108106" "LRP5"
"0000108107" "LRP5"
"0000108108" "LRP5"
"0000108109" "LRP5"
"0000108110" "LRP5"
"0000108111" "LRP5"
"0000108112" "LRP5"
"0000108113" "LRP5"
"0000108114" "LRP5"
"0000108115" "LRP5"
"0000108116" "LRP5"
"0000108117" "LRP5"
"0000108118" "LRP5"
"0000108119" "LRP5"
"0000108120" "LRP5"
"0000108121" "LRP5"
"0000108122" "LRP5"
"0000108123" "LRP5"
"0000108124" "LRP5"
"0000108125" "LRP5"
"0000108126" "LRP5"
"0000108127" "LRP5"
"0000108128" "LRP5"
"0000108129" "LRP5"
"0000108130" "LRP5"
"0000108131" "LRP5"
"0000108132" "LRP5"
"0000108133" "LRP5"
"0000108134" "LRP5"
"0000108135" "LRP5"
"0000108136" "LRP5"
"0000108137" "LRP5"
"0000108138" "LRP5"
"0000108139" "LRP5"
"0000108140" "LRP5"
"0000108141" "LRP5"
"0000108142" "LRP5"
"0000108143" "LRP5"
"0000108144" "LRP5"
"0000108145" "LRP5"
"0000108146" "LRP5"
"0000108147" "LRP5"
"0000108148" "LRP5"
"0000108149" "LRP5"
"0000108150" "LRP5"
"0000108151" "LRP5"
"0000108153" "LRP5"
"0000108154" "LRP5"
"0000108155" "LRP5"
"0000108157" "LRP5"
"0000108158" "LRP5"
"0000108159" "LRP5"
"0000108160" "LRP5"
"0000108161" "LRP5"
"0000108162" "LRP5"
"0000108163" "LRP5"
"0000108164" "LRP5"
"0000108165" "LRP5"
"0000108166" "LRP5"
"0000108167" "LRP5"
"0000108168" "LRP5"
"0000108169" "LRP5"
"0000108170" "LRP5"
"0000108171" "LRP5"
"0000108172" "LRP5"
"0000108173" "LRP5"
"0000108174" "LRP5"
"0000108175" "LRP5"
"0000108176" "LRP5"
"0000108177" "LRP5"
"0000108178" "LRP5"
"0000108179" "LRP5"
"0000108180" "LRP5"
"0000108181" "LRP5"
"0000108182" "LRP5"
"0000108183" "LRP5"
"0000144621" "LRP5"
"0000272530" "FZD4"
"0000272530" "LRP5"
"0000272530" "NDP"
"0000272530" "TSPAN12"
"0000274322" "FZD4"
"0000274322" "LRP5"
"0000274322" "NDP"
"0000274322" "TSPAN12"
"0000275372" "LRP5"
"0000275374" "LRP5"
"0000275375" "LRP5"
"0000275376" "FZD4"
"0000275376" "LRP5"
"0000275376" "NDP"
"0000275376" "TSPAN12"
"0000275377" "FZD4"
"0000275377" "LRP5"
"0000275377" "NDP"
"0000275377" "TSPAN12"
"0000275379" "FZD4"
"0000275379" "LRP5"
"0000275379" "TSPAN12"
"0000275380" "LRP5"
"0000275381" "LRP5"
"0000275382" "LRP5"
"0000275383" "LRP5"
"0000275384" "LRP5"
"0000275385" "LRP5"
"0000275432" "LRP5"
"0000275439" "FZD4"
"0000275439" "LRP5"
"0000275440" "LRP5"
"0000275475" "LRP5"
"0000275612" "FZD4"
"0000275612" "LRP5"
"0000275612" "NDP"
"0000275612" "TSPAN12"
"0000275613" "FZD4"
"0000275613" "LRP5"
"0000275613" "NDP"
"0000275613" "TSPAN12"
"0000333515" "LRP5"
"0000333516" "LRP5"
"0000333517" "LRP5"
"0000333518" "LRP5"
"0000333519" "LRP5"
"0000333520" "LRP5"
"0000333521" "LRP5"
"0000333522" "LRP5"
"0000333528" "LRP5"
"0000333529" "LRP5"
"0000334598" "LRP5"
"0000334600" "LRP5"
"0000336124" "LRP5"
"0000336434" "LRP5"
"0000336435" "LRP5"
"0000336436" "LRP5"
"0000336438" "LRP5"
"0000336440" "LRP5"
"0000336442" "LRP5"
"0000364830" "LRP5"
"0000364868" "LRP5"
"0000365060" "LRP5"
"0000365061" "LRP5"
"0000365062" "LRP5"
"0000365063" "LRP5"
"0000365066" "LRP5"
"0000365067" "LRP5"
"0000365071" "LRP5"
"0000373752" "BBS2"
"0000374662" "LRP5"
"0000374663" "LRP5"
"0000374664" "LRP5"
"0000374665" "LRP5"
"0000374666" "LRP5"
"0000374667" "LRP5"
"0000374668" "LRP5"
"0000374669" "LRP5"
"0000374670" "LRP5"
"0000374671" "LRP5"
"0000374672" "LRP5"
"0000374673" "LRP5"
"0000374674" "LRP5"
"0000374675" "LRP5"
"0000374676" "LRP5"
"0000374697" "TSPAN12"
"0000374698" "FZD4"
"0000377726" "LRP5"
"0000377727" "LRP5"
"0000381489" "LRP5"
"0000381490" "LRP5"
"0000381491" "LRP5"
"0000381492" "LRP5"
"0000381493" "LRP5"
"0000381494" "LRP5"
"0000381495" "LRP5"
"0000381962" "LRP5"
"0000381963" "LRP5"
"0000381964" "LRP5"
"0000381965" "LRP5"
"0000381966" "LRP5"
"0000381967" "LRP5"
"0000381968" "LRP5"
"0000381969" "LRP5"
"0000381970" "LRP5"
"0000381974" "NDP"
"0000382309" "LRP5"
"0000382310" "LRP5"
"0000382311" "LRP5"
"0000383028" "LRP5"
"0000383029" "LRP5"
"0000383176" "LRP5"
"0000383244" "LRP5"
"0000383245" "LRP5"
"0000383246" "LRP5"
"0000383247" "LRP5"
"0000383248" "LRP5"
"0000383249" "LRP5"
"0000383250" "LRP5"
"0000383251" "LRP5"
"0000383252" "LRP5"
"0000383253" "LRP5"
"0000383254" "LRP5"
"0000383255" "LRP5"
"0000383256" "LRP5"
"0000383257" "LRP5"
"0000383258" "LRP5"
"0000383259" "LRP5"
"0000383260" "LRP5"
"0000383261" "LRP5"
"0000383262" "LRP5"
"0000383263" "LRP5"
"0000383264" "LRP5"
"0000383265" "LRP5"
"0000383266" "LRP5"
"0000383267" "LRP5"
"0000383268" "LRP5"
"0000383269" "LRP5"
"0000383270" "LRP5"
"0000383271" "LRP5"
"0000383272" "LRP5"
"0000383273" "LRP5"
"0000383274" "LRP5"
"0000383275" "LRP5"
"0000383276" "LRP5"
"0000383277" "LRP5"
"0000383278" "LRP5"
"0000383279" "LRP5"
"0000383280" "LRP5"
"0000383281" "LRP5"
"0000383282" "LRP5"
"0000383283" "LRP5"
"0000383284" "LRP5"
"0000383285" "LRP5"
"0000383286" "LRP5"
"0000383287" "LRP5"
"0000383288" "LRP5"
"0000383289" "LRP5"
"0000383290" "LRP5"
"0000383291" "LRP5"
"0000383292" "LRP5"
"0000383293" "LRP5"
"0000383294" "LRP5"
"0000383295" "LRP5"
"0000383296" "LRP5"
"0000383297" "LRP5"
"0000383298" "LRP5"
"0000383299" "LRP5"
"0000383300" "LRP5"
"0000383301" "LRP5"
"0000383302" "LRP5"
"0000383975" "LRP5"
"0000383976" "LRP5"
"0000383979" "LRP5"
"0000383980" "LRP5"
"0000383981" "LRP5"
"0000383982" "LRP5"
"0000383983" "LRP5"
"0000383984" "LRP5"
"0000383985" "LRP5"
"0000383986" "LRP5"
"0000383987" "LRP5"
"0000383988" "LRP5"
"0000383989" "LRP5"
"0000384767" "LRP5"
"0000384768" "LRP5"
"0000384769" "LRP5"
"0000384770" "LRP5"
"0000384771" "LRP5"
"0000384772" "LRP5"
"0000384773" "LRP5"
"0000384774" "LRP5"
"0000384775" "LRP5"
"0000384776" "LRP5"
"0000384777" "LRP5"
"0000384778" "LRP5"
"0000384779" "LRP5"
"0000384780" "LRP5"
"0000384781" "LRP5"
"0000384782" "LRP5"
"0000384783" "LRP5"
"0000384784" "LRP5"
"0000384936" "LRP5"
"0000384937" "LRP5"
"0000384938" "LRP5"
"0000384939" "LRP5"
"0000384940" "LRP5"
"0000384941" "LRP5"
"0000384942" "LRP5"
"0000384943" "LRP5"
"0000384944" "LRP5"
"0000384945" "LRP5"
"0000384946" "LRP5"
"0000384956" "LRP5"
"0000384957" "LRP5"
"0000384958" "LRP5"
"0000385458" "COL11A1"
"0000385506" "LRP5"
"0000385531" "LRP5"
"0000385552" "LRP5"
"0000385561" "LRP5"
"0000385568" "LRP5"
"0000385587" "LRP5"
"0000385589" "LRP5"
"0000385594" "LRP5"
"0000385596" "LRP5"
"0000385628" "LRP5"
"0000385658" "LRP5"
"0000385661" "LRP5"
"0000385690" "LRP5"
"0000385692" "FZD4"
"0000385706" "LRP5"
"0000385708" "LRP5"
"0000385721" "LRP5"
"0000387032" "LRP5"
"0000387033" "LRP5"
"0000387034" "LRP5"
"0000387035" "LRP5"
"0000387036" "LRP5"
"0000387037" "LRP5"
"0000387038" "LRP5"
"0000387039" "LRP5"
"0000389292" "LRP5"
"0000389293" "LRP5"
"0000389294" "LRP5"
"0000389295" "LRP5"
"0000389296" "LRP5"
"0000389475" "LRP5"
"0000389476" "LRP5"
"0000389495" "LRP5"
"0000389496" "LRP5"
"0000389730" "LRP5"
"0000391542" "LRP5"
"0000391543" "LRP5"
"0000393035" "LRP5"
"0000393036" "LRP5"
"0000393037" "LRP5"
"0000394945" "LRP5"
"0000397163" "LRP5"
"0000397178" "LRP5"
"0000415040" "FZD4"
"0000415040" "LRP5"
"0000415040" "NDP"
"0000415040" "TSPAN12"
"0000418142" "LRP5"
"0000418143" "LRP5"
"0000418144" "LRP5"
"0000418151" "FZD4"
"0000418151" "LRP5"
"0000418151" "NDP"
"0000418151" "TSPAN12"
"0000418152" "FZD4"
"0000418152" "LRP5"
"0000418152" "NDP"
"0000418152" "TSPAN12"
"0000418153" "FZD4"
"0000418153" "LRP5"
"0000418153" "NDP"
"0000418153" "TSPAN12"
"0000418154" "LRP5"
"0000418155" "LRP5"
"0000418164" "LRP5"
"0000418165" "LRP5"
"0000418166" "LRP5"
"0000419943" "BMP1"
"0000419943" "COL1A1"
"0000419943" "COL1A2"
"0000419943" "CRTAP"
"0000419943" "FKBP10"
"0000419943" "IFITM5"
"0000419943" "LRP5"
"0000419943" "P3H1"
"0000419943" "PLOD2"
"0000419943" "PLS3"
"0000419943" "PPIB"
"0000419943" "SERPINF1"
"0000419943" "SERPINH1"
"0000419943" "WNT1"
"0000419990" "BMP1"
"0000419990" "COL1A1"
"0000419990" "COL1A2"
"0000419990" "COL5A1"
"0000419990" "CRTAP"
"0000419990" "FKBP10"
"0000419990" "IFITM5"
"0000419990" "LRP5"
"0000419990" "P3H1"
"0000419990" "PLOD2"
"0000419990" "PLS3"
"0000419990" "PPIB"
"0000419990" "SERPINF1"
"0000419990" "SERPINH1"
"0000419990" "WNT1"
"0000420083" "BMP1"
"0000420083" "COL1A1"
"0000420083" "COL1A2"
"0000420083" "CRTAP"
"0000420083" "FKBP10"
"0000420083" "IFITM5"
"0000420083" "LRP5"
"0000420083" "P3H1"
"0000420083" "PLOD2"
"0000420083" "PLS3"
"0000420083" "PPIB"
"0000420083" "SERPINF1"
"0000420083" "SERPINH1"
"0000420083" "WNT1"
"0000421780" "LRP5"
"0000421902" "LRP5"
## 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 = 626
"{{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}}"
"0000173881" "1" "90" "11" "68080211" "68080211" "subst" "0" "00006" "LRP5_000001" "g.68080211G>A" "1/37" "{PMID:Gong 2001:11719191}, {OMIM603506:0001}, {PMID:Ai 2005:16252235}" "" "" "0/50 controls" "Germline" "" "" "0" "" "" "g.68312743G>A" "" "pathogenic" ""
"0000173882" "2" "90" "11" "68080211" "68080211" "subst" "0" "00006" "LRP5_000001" "g.68080211G>A" "1/37" "{PMID:Gong 2001:11719191}, {OMIM603506:0001}, {PMID:Ai 2005:16252235}" "" "" "0/50 controls" "Germline" "" "" "0" "" "" "g.68312743G>A" "" "pathogenic" ""
"0000173883" "1" "90" "11" "68131252" "68131252" "subst" "0" "00006" "LRP5_000065" "g.68131252G>A" "4/10" "{PMID:Van Wesenbeeck 2003:12579474}, {OMIM603506:0015}" "" "" "0/100 controls" "Germline" "" "" "0" "" "" "g.68363784G>A" "" "pathogenic" ""
"0000173884" "1" "90" "11" "68131252" "68131252" "subst" "0" "00006" "LRP5_000065" "g.68131252G>A" "4/10" "{PMID:Van Wesenbeeck 2003:12579474}, {OMIM603506:0015}" "" "" "0/100 controls" "Germline" "" "" "0" "" "" "g.68363784G>A" "" "pathogenic" ""
"0000173885" "1" "90" "11" "68131252" "68131252" "subst" "0" "00006" "LRP5_000065" "g.68131252G>A" "4/10" "{PMID:Van Wesenbeeck 2003:12579474}, {OMIM603506:0015}" "" "" "0/100 controls" "Germline" "" "" "0" "" "" "g.68363784G>A" "" "pathogenic" ""
"0000173886" "1" "90" "11" "68131252" "68131252" "subst" "0" "00006" "LRP5_000065" "g.68131252G>A" "4/10" "{PMID:Van Wesenbeeck 2003:12579474}, {OMIM603506:0015}" "" "" "0/100 controls" "Germline" "" "" "0" "" "" "g.68363784G>A" "" "pathogenic (dominant)" ""
"0000173887" "1" "90" "11" "68125269" "68125269" "subst" "0" "00006" "LRP5_000062" "g.68125269G>A" "1/10" "{PMID:Van Wesenbeeck 2003:12579474}, {OMIM603506:0016}" "" "" "0/100 controls" "Germline" "" "" "0" "" "" "g.68357801G>A" "" "pathogenic" ""
"0000173888" "1" "90" "11" "68125270" "68125270" "subst" "0" "00006" "LRP5_000063" "g.68125270C>T" "1/10" "{PMID:Van Wesenbeeck 2003:12579474}, {OMIM603506:0017}" "" "" "0/100 controls" "Germline" "" "" "0" "" "" "g.68357802C>T" "" "pathogenic" ""
"0000173889" "1" "90" "11" "68131286" "68131286" "subst" "0" "00006" "LRP5_000066" "g.68131286C>T" "2/10" "{PMID:Van Wesenbeeck 2003:12579474}, {OMIM603506:0018}" "" "" "0/100 controls" "Germline" "" "" "0" "" "" "g.68363818C>T" "" "pathogenic (dominant)" ""
"0000173890" "1" "90" "11" "68131286" "68131286" "subst" "0" "00006" "LRP5_000066" "g.68131286C>T" "2/10" "{PMID:Van Wesenbeeck 2003:12579474}, {OMIM603506:0018}" "" "" "0/100 controls" "Germline" "" "" "0" "" "" "g.68363818C>T" "" "pathogenic (dominant)" ""
"0000173891" "1" "90" "11" "68154050" "68154050" "subst" "0" "00006" "LRP5_000002" "g.68154050C>T" "1/37" "{PMID:Gong 2001:11719191}, {OMIM603506:0002}, {PMID:Ai 2005:16252235}" "" "" "" "Germline" "" "" "0" "" "" "g.68386582C>T" "" "pathogenic" ""
"0000173892" "2" "90" "11" "68154050" "68154050" "subst" "0" "00006" "LRP5_000002" "g.68154050C>T" "1/37" "{PMID:Gong 2001:11719191}, {OMIM603506:0002}, {PMID:Ai 2005:16252235}" "" "" "" "Germline" "" "" "0" "" "" "g.68386582C>T" "" "pathogenic" ""
"0000173893" "1" "90" "11" "68207386" "68207386" "subst" "0" "00006" "LRP5_000050" "g.68207386T>G" "1/32" "{PMID:Toomes 2004:15024691}, {OMIM603506:0020}" "" "IVS21+2T>G" "0/400 controls" "Germline" "" "" "0" "" "" "g.68439918T>G" "" "pathogenic" ""
"0000173894" "1" "90" "11" "68205921" "68205921" "dup" "0" "00006" "LRP5_000044" "g.68205921dup" "1/32" "{PMID:Toomes 2004:15024691}, {OMIM603506:0021}" "" "4119_4120insC (K1374fsX1549)" "0/400 controls" "Germline" "" "" "0" "" "" "g.68438453dup" "" "pathogenic" ""
"0000173901" "1" "90" "11" "68157404" "68157404" "del" "0" "00006" "LRP5_000003" "g.68157404del" "1/37" "{PMID:Gong 2001:11719191}, {OMIM603506:0003}, {PMID:Ai 2005:16252235}" "" "1467delG" "" "Germline" "" "" "0" "" "" "g.68389936del" "" "pathogenic" ""
"0000173902" "2" "90" "11" "68157404" "68157404" "del" "0" "00006" "LRP5_000003" "g.68157404del" "1/37" "{PMID:Gong 2001:11719191}, {OMIM603506:0003}, {PMID:Ai 2005:16252235}" "" "1467delG" "" "Germline" "" "" "0" "" "" "g.68389936del" "" "pathogenic" ""
"0000173906" "1" "90" "11" "68154098" "68154098" "subst" "2.0384E-5" "00006" "LRP5_000014" "g.68154098C>T" "" "{PMID:Qin 2005:15981244}, {OMIM603506:0026}, {PMID:Kondo 2003:14507768}, {OMIM604579:0003}" "" "" "digenic inheritance, carry heterozygous FZD4:p.(R417Q); not in 362 control chromosome" "Germline" "" "" "0" "" "" "g.68386630C>T" "" "pathogenic" ""
"0000173907" "1" "90" "11" "68174018" "68174018" "subst" "1.21951E-5" "00006" "LRP5_000021" "g.68174018G>A" "1/56" "{PMID:Qin 2005:15981244}, {OMIM603506:0027}" "" "" "0/362 controls" "Germline" "" "" "0" "" "" "g.68406550G>A" "" "pathogenic" ""
"0000173908" "2" "90" "11" "68131332" "68131341" "" "0" "00006" "LRP5_000067" "g.68131332_68131341del" "1/56" "{PMID:Qin 2005:15981244}, {OMIM603506:0028}" "" "803_812del" "0/362 controls" "Germline" "" "" "0" "" "" "g.68363864_68363873del" "" "pathogenic" ""
"0000173909" "1" "90" "11" "68177441" "68177441" "dup" "0" "00006" "LRP5_000004" "g.68177441dup" "1/37" "{PMID:Gong 2001:11719191}, {OMIM603506:0004}, {PMID:Ai 2005:16252235}" "" "2150insT" "0/50 controls" "Germline" "" "" "0" "" "" "g.68409973dup" "" "pathogenic" ""
"0000173910" "2" "90" "11" "68177441" "68177441" "dup" "0" "00006" "LRP5_000004" "g.68177441dup" "1/37" "{PMID:Gong 2001:11719191}, {OMIM603506:0004}, {PMID:Ai 2005:16252235}" "" "2150insT" "0/50 controls" "Germline" "" "" "0" "" "" "g.68409973dup" "" "pathogenic" ""
"0000173911" "1" "90" "11" "68181210" "68181210" "subst" "0" "00006" "LRP5_000005" "g.68181210C>T" "1/37" "{PMID:Gong 2001:11719191}, {OMIM603506:0005}, {PMID:Ai 2005:16252235}" "" "" "0/50 controls" "Germline" "" "" "0" "" "" "g.68413742C>T" "" "pathogenic" ""
"0000173912" "2" "90" "11" "68181210" "68181210" "subst" "0" "00006" "LRP5_000005" "g.68181210C>T" "1/37" "{PMID:Gong 2001:11719191}, {OMIM603506:0005}, {PMID:Ai 2005:16252235}" "" "" "0/50 controls" "Germline" "" "" "0" "" "" "g.68413742C>T" "" "pathogenic" ""
"0000173913" "1" "90" "11" "68201110" "68201110" "del" "0" "00006" "LRP5_000006" "g.68201110del" "2/37" "{PMID:Gong 2001:11719191}, {OMIM603506:0006}, {PMID:Ai 2005:16252235}" "" "" "0/50 controls" "Germline" "" "" "0" "" "" "g.68433642del" "" "pathogenic" ""
"0000173914" "2" "90" "11" "68201110" "68201110" "del" "0" "00006" "LRP5_000006" "g.68201110del" "2/37" "{PMID:Gong 2001:11719191}, {OMIM603506:0006}, {PMID:Ai 2005:16252235}" "" "" "0/50 controls" "Germline" "" "" "0" "" "" "g.68433642del" "" "pathogenic" ""
"0000173915" "3" "90" "11" "68157417" "68157417" "subst" "0" "00006" "LRP5_000007" "g.68157417G>A" "1/37" "{PMID:Gong 2001:11719191}, {OMIM603506:0007}, {PMID:Ai 2005:16252235}" "" "" "0/50 controls" "Germline" "" "" "0" "" "" "g.68389949G>A" "" "pathogenic" ""
"0000173917" "1" "90" "11" "68171074" "68171074" "subst" "0" "00006" "LRP5_000008" "g.68171074C>T" "1/37" "{PMID:Gong 2001:11719191}, {OMIM603506:0008}, {PMID:Ai 2005:16252235}" "" "" "0/50 controls" "Germline" "" "" "0" "" "" "g.68403606C>T" "" "pathogenic" ""
"0000173918" "2" "90" "11" "68171074" "68171074" "subst" "0" "00006" "LRP5_000008" "g.68171074C>T" "1/37" "{PMID:Gong 2001:11719191}, {OMIM603506:0008}, {PMID:Ai 2005:16252235}" "" "" "0/50 controls" "Germline" "" "" "0" "" "" "g.68403606C>T" "" "pathogenic" ""
"0000173919" "1" "90" "11" "68174189" "68174189" "subst" "0.0379141" "00006" "LRP5_000009" "g.68174189G>A" "1/28" "{PMID:Gong 2001:11719191}, {OMIM603506:0009}" "" "" "0/50 controls" "Germline" "" "rs4988321" "0" "" "" "g.68406721G>A" "" "pathogenic" ""
"0000173920" "2" "90" "11" "68174189" "68174189" "subst" "0.0379141" "00006" "LRP5_000009" "g.68174189G>A" "1/28" "{PMID:Gong 2001:11719191}, {OMIM603506:0009}" "" "" "0/50 controls" "Germline" "" "rs4988321" "0" "" "" "g.68406721G>A" "" "pathogenic" ""
"0000173921" "1" "90" "11" "68157389" "68157389" "subst" "0" "00006" "LRP5_000010" "g.68157389G>T" "1/37" "{PMID:Gong 2001:11719191}, {OMIM603506:0010}, {PMID:Ai 2005:16252235}" "" "" "0/50 controls" "Germline" "" "" "0" "" "" "g.68389921G>T" "" "pathogenic" ""
"0000173922" "2" "90" "11" "68216290" "68216290" "subst" "0" "00006" "LRP5_000073" "g.68216290C>T" "" "{PMID:Ai 2005:16252235}" "" "" "" "Germline" "" "" "0" "" "" "g.68448822C>T" "" "pathogenic" ""
"0000173923" "1" "90" "11" "68115554" "68115554" "subst" "0" "00006" "LRP5_000034" "g.68115554G>T" "1/10" "{PMID:Van Wesenbeeck 2003:12579474}" "" "" "0/100 control chromosomes" "Germline" "" "" "0" "" "" "g.68348086G>T" "" "pathogenic" ""
"0000173924" "1" "90" "11" "68177595" "68177595" "del" "0" "00006" "LRP5_000012" "g.68177595del" "1/27" "{PMID:Gong 2001:11719191}, {OMIM603506:0012}" "" "" "0/50 controls; unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.68410127del" "" "pathogenic" ""
"0000173925" "1" "90" "11" "68125140" "68125140" "subst" "0" "00006" "LRP5_000013" "g.68125140G>T" "" "{PMID:Little 2002:11741193}, {OMIM603506:0013}" "" "" "not in 2000 control chromosomes" "Germline" "" "" "0" "" "" "g.68357672G>T" "" "pathogenic" ""
"0000173926" "1" "90" "11" "68125140" "68125140" "subst" "0" "00006" "LRP5_000013" "g.68125140G>T" "" "{PMID:Boyden 2002:12015390}, {OMIM603506:0013}" "" "" "0/420 controls" "Germline" "" "" "0" "" "" "g.68357672G>T" "" "pathogenic" ""
"0000173927" "1" "90" "11" "68125140" "68125140" "subst" "0" "00006" "LRP5_000057" "g.68125140G>C" "1/10" "{PMID:Van Wesenbeeck 2003:12579474}, {OMIM603506:0014}" "" "" "0/100 controls" "Germline" "" "" "0" "" "" "g.68357672G>C" "" "pathogenic" ""
"0000173928" "0" "70" "11" "68171013" "68171013" "subst" "0.906951" "00006" "LRP5_000017" "g.68171013T>C" "" "{PMID:Mizuguchi 2004:14727154}" "" "1647C>T (F549F)" "association with higher adjusted BMD, risk for osteoporosis" "Germline" "" "" "0" "" "" "g.68403545T>C" "" "likely pathogenic" ""
"0000173929" "1" "70" "11" "68177510" "68177510" "subst" "0.136069" "00006" "LRP5_000025" "g.68177510C>T" "" "{PMID:Mizuguchi 2004:14727154}, {OMIM603506:0019}" "" "N740N" "association with higher adjusted BMD, risk for osteoporosis" "Germline" "" "rs2306862" "0" "" "" "g.68410042C>T" "" "likely pathogenic" ""
"0000173930" "1" "70" "11" "68201295" "68201295" "subst" "0.133814" "00006" "LRP5_000040" "g.68201295C>T" "" "{PMID:Mizuguchi 2004:14727154}" "" "4037C>T" "association with higher adjusted BMD, risk for osteoporosis" "Germline" "" "rs3736228" "0" "" "" "g.68433827C>T" "" "likely pathogenic" ""
"0000173931" "1" "70" "11" "68201040" "68201040" "subst" "0.0214371" "00006" "LRP5_000038" "g.68201040G>A" "" "{PMID:Mizuguchi 2004:14727154}" "" "IVS17-30g>a" "association with higher adjusted BMD, risk for osteoporosis" "Germline" "" "" "0" "" "" "g.68433572G>A" "" "likely pathogenic" ""
"0000173932" "2" "70" "11" "68177510" "68177510" "subst" "0.136069" "00006" "LRP5_000025" "g.68177510C>T" "" "{PMID:Mizuguchi 2004:14727154}, {OMIM603506:0019}" "" "N740N" "association with higher adjusted BMD, risk for osteoporosis" "Germline" "" "rs2306862" "0" "" "" "g.68410042C>T" "" "likely pathogenic" ""
"0000173933" "2" "70" "11" "68201295" "68201295" "subst" "0.133814" "00006" "LRP5_000040" "g.68201295C>T" "" "{PMID:Mizuguchi 2004:14727154}" "" "4037C>T" "association with higher adjusted BMD, risk for osteoporosis" "Germline" "" "rs3736228" "0" "" "" "g.68433827C>T" "" "likely pathogenic" ""
"0000173934" "2" "70" "11" "68201040" "68201040" "subst" "0.0214371" "00006" "LRP5_000038" "g.68201040G>A" "" "{PMID:Mizuguchi 2004:14727154}" "" "IVS17-30g>a" "association with higher adjusted BMD, risk for osteoporosis" "Germline" "" "" "0" "" "" "g.68433572G>A" "" "likely pathogenic" ""
"0000173935" "1" "70" "11" "68207436" "68207436" "subst" "0" "00006" "LRP5_000051" "g.68207436C>A" "" "{PMID:Koay 2004:15355556}" "" "IVS21+52c>a" "association with BMD hip (M, F)" "Germline" "" "" "0" "" "" "g.68439968C>A" "" "likely pathogenic" ""
"0000173936" "1" "70" "11" "68201295" "68201295" "subst" "0.133814" "00006" "LRP5_000040" "g.68201295C>T" "" "{PMID:Koay 2004:15355556}" "" "4037C>T" "association with BMD lumbar spine, femoral neck, total hip (M, F)" "Germline" "" "rs3736228" "0" "" "" "g.68433827C>T" "" "likely pathogenic" ""
"0000173937" "1" "70" "11" "68174122" "68174122" "subst" "0.0580607" "00006" "LRP5_000022" "g.68174122G>A" "" "{PMID:Koay 2004:15355556}" "" "1980G>A (644E)" "association with osteoporosis/high BMD hip (F)" "Germline" "" "rs2277268" "0" "" "" "g.68406654G>A" "" "likely pathogenic" ""
"0000173938" "1" "70" "11" "68171013" "68171013" "subst" "0.906951" "00006" "LRP5_000017" "g.68171013T>C" "" "{PMID:Koay 2004:15355556}" "" "1647C>T (F549F)" "association with osteoporosis/high BMD hip (F)" "Germline" "" "rs545382" "0" "" "" "g.68403545T>C" "" "likely pathogenic" ""
"0000173939" "1" "70" "11" "68201295" "68201295" "subst" "0.133814" "00006" "LRP5_000040" "g.68201295C>T" "" "{PMID:Koller 2005:15619672}" "" "4037C>T" "association with BMD hip/spine (F)" "Germline" "" "rs3736228" "0" "" "" "g.68433827C>T" "" "likely pathogenic" ""
"0000173940" "1" "70" "11" "68090836" "68090836" "subst" "0" "00006" "LRP5_000068" "g.68090836A>T" "" "{PMID:Koller 2005:15619672}" "" "IVS1a>g" "association with BMD hip/spine (F)" "Germline" "" "rs514529" "0" "" "" "g.68323368A>T" "" "likely pathogenic" ""
"0000173941" "1" "70" "11" "68163514" "68163514" "subst" "0" "00006" "LRP5_000015" "g.68163514T>C" "" "{PMID:Koller 2005:15619672}" "" "IVS7t>c" "association with BMD hip/spine (F)\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs627174" "0" "" "" "g.68396046T>C" "" "likely pathogenic" ""
"0000173942" "1" "70" "11" "68206210" "68206210" "subst" "0" "00006" "LRP5_000047" "g.68206210T>C" "" "{PMID:Koller 2005:15619672}" "" "IVS20t>c" "association with BMD hip/spine (F)" "Germline" "" "rs901824" "0" "" "" "g.68438742T>C" "" "likely pathogenic" ""
"0000173943" "1" "70" "11" "68174189" "68174189" "subst" "0.0379141" "00006" "LRP5_000009" "g.68174189G>A" "" "{PMID:Ferrari 2005:16168727}" "" "" "association with low BMD/osteoporosis (M)" "Germline" "" "rs4988321" "0" "" "" "g.68406721G>A" "" "likely pathogenic" ""
"0000173944" "1" "70" "11" "68174122" "68174122" "subst" "0.0580607" "00006" "LRP5_000022" "g.68174122G>A" "" "{PMID:Ferrari 2005:16168727}" "" "1980G>A (E644E)" "association with low BMD/osteoporosis (M)" "Germline" "" "rs2277268" "0" "" "" "g.68406654G>A" "" "likely pathogenic" ""
"0000173945" "1" "70" "11" "68201295" "68201295" "subst" "0.133814" "00006" "LRP5_000040" "g.68201295C>T" "" "{PMID:Ferrari 2005:16168727}" "" "4037C>T" "association with low BMD/osteoporosis (M)" "Germline" "" "rs3736228" "0" "" "" "g.68433827C>T" "" "likely pathogenic" ""
"0000173946" "1" "70" "11" "68174237" "68174237" "subst" "4.06312E-6" "00006" "LRP5_000024" "g.68174237G>A" "" "{PMID:Ferrari 2005:16168727}" "" "" "association with low BMD/osteoporosis (M)" "Germline" "" "" "0" "" "" "g.68406769G>A" "" "likely pathogenic" ""
"0000173947" "1" "10" "11" "68201295" "68201295" "subst" "0.133814" "00006" "LRP5_000040" "g.68201295C>T" "" "{PMID:Okubo 2002:11793484}" "" "4037T>C" "" "Germline" "" "rs3736228" "0" "" "" "g.68433827C>T" "" "benign" ""
"0000173948" "2" "10" "11" "68201295" "68201295" "subst" "0.133814" "00006" "LRP5_000040" "g.68201295C>T" "" "{PMID:Okubo 2002:11793484}" "" "4037T>C" "" "Germline" "" "rs3736228" "0" "" "" "g.68433827C>T" "" "benign" ""
"0000173949" "1" "10" "11" "68115489" "68115489" "subst" "0.0192666" "00006" "LRP5_000031" "g.68115489A>G" "" "{PMID:Okubo 2002:11793484}" "" "314A>G" "" "Germline" "" "" "0" "" "" "g.68348021A>G" "" "benign" ""
"0000173950" "2" "10" "11" "68115489" "68115489" "subst" "0.0192666" "00006" "LRP5_000031" "g.68115489A>G" "" "{PMID:Okubo 2002:11793484}" "" "314A>G" "" "Germline" "" "" "0" "" "" "g.68348021A>G" "" "benign" ""
"0000173951" "0" "10" "11" "68177490" "68177490" "subst" "0" "00006" "LRP5_000027" "g.68177490C>T" "168/208 control chromosomes" "{PMID:Okubo 2002:11793484}" "" "2268T>C (N740N)" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.68410022C>T" "" "benign" ""
"0000173952" "0" "10" "11" "68177614" "68177614" "subst" "0.0582331" "00006" "LRP5_000028" "g.68177614T>C" "8/194 control chromosomes" "{PMID:Okubo 2002:11793484}" "" "IVS10+6T>C" "" "Germline" "" "" "0" "" "" "g.68410146T>C" "" "benign" ""
"0000173953" "0" "10" "11" "68115489" "68115489" "subst" "0.0192666" "00006" "LRP5_000031" "g.68115489A>G" "28/344 control chromosomes" "{PMID:Okubo 2002:11793484}" "" "314A>G" "" "Germline" "" "" "0" "" "" "g.68348021A>G" "" "benign" ""
"0000173954" "0" "10" "11" "68192690" "68192690" "subst" "0.683874" "00006" "LRP5_000036" "g.68192690G>A" "120/180 control chromosomes" "{PMID:Okubo 2002:11793484}" "" "3357A>G (V1119V)" "" "Germline" "" "" "0" "" "" "g.68425222G>A" "" "benign" ""
"0000173955" "0" "10" "11" "68201040" "68201040" "subst" "0.0214371" "00006" "LRP5_000038" "g.68201040G>A" "27/194 control chromosomes" "{PMID:Okubo 2002:11793484}" "" "IVS17-30G>A" "" "Germline" "" "" "0" "" "" "g.68433572G>A" "" "benign" ""
"0000173956" "0" "10" "11" "68201295" "68201295" "subst" "0.133814" "00006" "LRP5_000040" "g.68201295C>T" "38/210 control chromosomes" "{PMID:Okubo 2002:11793484}" "" "4037T>C" "" "Germline" "" "rs3736228" "0" "" "" "g.68433827C>T" "" "benign" ""
"0000173957" "0" "10" "11" "68204445" "68204445" "subst" "0.00312584" "00006" "LRP5_000042" "g.68204445C>T" "2/214 control chromosomes" "{PMID:Okubo 2002:11793484}" "" "4137C>T (D1363D)" "" "Germline" "" "" "0" "" "" "g.68436977C>T" "" "benign" ""
"0000173958" "0" "10" "11" "68170968" "68170968" "subst" "0" "00006" "LRP5_000016" "g.68170968G>A" "" "{PMID:Van Wesenbeeck 2003:12579474}" "" "T534T" "not found in control chromosomes" "Germline" "" "" "0" "" "" "g.68403500G>A" "" "benign" ""
"0000173959" "0" "10" "11" "68171013" "68171013" "subst" "0.906951" "00006" "LRP5_000017" "g.68171013T>C" "0.05" "{PMID:Van Wesenbeeck 2003:12579474}" "" "F549F" "control chromosomes" "Germline" "" "" "0" "" "" "g.68403545T>C" "" "benign" ""
"0000173960" "0" "10" "11" "68174122" "68174122" "subst" "0.0580607" "00006" "LRP5_000022" "g.68174122G>A" "0.05" "{PMID:Van Wesenbeeck 2003:12579474}" "" "E644E" "control chromosomes" "Germline" "" "rs2277268" "0" "" "" "g.68406654G>A" "" "benign" ""
"0000173961" "0" "10" "11" "68174189" "68174189" "subst" "0.0379141" "00006" "LRP5_000009" "g.68174189G>A" "0.05" "{PMID:Van Wesenbeeck 2003:12579474}" "" "" "control chromosomes" "Germline" "" "rs4988321" "0" "" "" "g.68406721G>A" "" "benign" ""
"0000173962" "0" "10" "11" "68177490" "68177490" "subst" "0" "00006" "LRP5_000027" "g.68177490C>T" "0.14" "{PMID:Van Wesenbeeck 2003:12579474}" "" "2268T>C (N740N)" "control chromosomes\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.68410022C>T" "" "benign" ""
"0000173963" "0" "10" "11" "68115489" "68115489" "subst" "0.0192666" "00006" "LRP5_000031" "g.68115489A>G" "" "{PMID:Van Wesenbeeck 2003:12579474}" "" "" "not found in control chromosomes" "Germline" "" "" "0" "" "" "g.68348021A>G" "" "benign" ""
"0000173964" "0" "10" "11" "68192630" "68192630" "subst" "0.0217712" "00006" "LRP5_000033" "g.68192630C>T" "" "{PMID:Van Wesenbeeck 2003:12579474}" "" "" "not found in control chromosomes" "Germline" "" "" "0" "" "" "g.68425162C>T" "" "benign" ""
"0000173965" "0" "10" "11" "68115556" "68115556" "subst" "2.84539E-5" "00006" "LRP5_000035" "g.68115556C>T" "" "{PMID:Van Wesenbeeck 2003:12579474}" "" "D111D" "not found in control chromosomes" "Germline" "" "" "0" "" "" "g.68348088C>T" "" "benign" ""
"0000173966" "0" "10" "11" "68192690" "68192690" "subst" "0.683874" "00006" "LRP5_000036" "g.68192690G>A" "0.73" "{PMID:Van Wesenbeeck 2003:12579474}" "" "V1119V" "control chromosomes" "Germline" "" "" "0" "" "" "g.68425222G>A" "" "benign" ""
"0000173967" "0" "10" "11" "68201295" "68201295" "subst" "0.133814" "00006" "LRP5_000040" "g.68201295C>T" "0.09" "{PMID:Van Wesenbeeck 2003:12579474}" "" "" "control chromosomes" "Germline" "" "rs3736228" "0" "" "" "g.68433827C>T" "" "benign" ""
"0000173968" "0" "10" "11" "68216478" "68216478" "subst" "0.0152115" "00006" "LRP5_000055" "g.68216478C>T" "0.03" "{PMID:Van Wesenbeeck 2003:12579474}" "" "T1596T" "control chromosomes" "Germline" "" "" "0" "" "" "g.68449010C>T" "" "benign" ""
"0000173969" "0" "10" "11" "68080234" "68080242" "del" "0" "00006" "LRP5_000059" "g.68080234_68080242del" "0.01" "{PMID:Van Wesenbeeck 2003:12579474}" "" "" "control chromosomes" "Germline" "" "" "0" "" "" "g.68312766_68312774del" "" "benign" ""
"0000173970" "0" "10" "11" "68080242" "68080243" "" "0" "00006" "LRP5_000060" "g.68080242_68080243dup" "0.05" "{PMID:Van Wesenbeeck 2003:12579474}" "" "" "control chromosomes" "Germline" "" "" "0" "" "" "g.68312774_68312775dup" "" "benign" ""
"0000173971" "1" "90" "11" "68193520" "68193520" "subst" "0" "00006" "LRP5_000037" "g.68193520T>C" "1/32" "{PMID:Toomes 2004:15024691}" "" "" "0/400 controls" "Germline" "" "" "0" "" "" "g.68426052T>C" "" "pathogenic" ""
"0000173972" "1" "90" "11" "68201110" "68201110" "del" "0" "00006" "LRP5_000006" "g.68201110del" "1/32" "{PMID:Toomes 2004:15024691}" "" "3804_3805delA (R1270fsX1438)" "0/400 controls" "Germline" "" "" "0" "" "" "g.68433642del" "" "pathogenic" ""
"0000173973" "1" "90" "11" "68204437" "68204437" "subst" "1.62525E-5" "00006" "LRP5_000041" "g.68204437T>G" "1/32" "{PMID:Toomes 2004:15024691}" "" "" "0/400 controls" "Germline" "" "" "0" "" "" "g.68436969T>G" "" "pathogenic" ""
"0000173974" "1" "90" "11" "68125147" "68125147" "subst" "0.000378467" "00006" "LRP5_000058" "g.68125147C>T" "1/32" "{PMID:Toomes 2004:15024691}" "" "" "0/400 controls" "Germline" "" "" "0" "" "" "g.68357679C>T" "" "pathogenic" ""
"0000173975" "0" "10" "11" "68171229" "68171229" "subst" "0" "00006" "LRP5_000020" "g.68171229C>T" "0.01" "{PMID:Toomes 2004:15024691}" "" "" "" "Germline" "" "" "0" "" "" "g.68403761C>T" "" "benign" ""
"0000173976" "0" "10" "11" "68179125" "68179125" "subst" "0.059396" "00006" "LRP5_000029" "g.68179125C>T" "0.01" "{PMID:Toomes 2004:15024691}" "" "" "" "Germline" "" "" "0" "" "" "g.68411657C>T" "" "benign" ""
"0000173977" "0" "10" "11" "68179166" "68179166" "subst" "0" "00006" "LRP5_000030" "g.68179166A>G" "0.52" "{PMID:Toomes 2004:15024691}" "" "" "" "Germline" "" "" "0" "" "" "g.68411698A>G" "" "benign" ""
"0000173978" "0" "10" "11" "68115547" "68115547" "subst" "0" "00006" "LRP5_000032" "g.68115547C>G" "0.02" "{PMID:Toomes 2004:15024691}" "" "V108V" "" "Germline" "" "" "0" "" "" "g.68348079C>G" "" "benign" ""
"0000173979" "0" "10" "11" "68201224" "68201224" "subst" "0.00271489" "00006" "LRP5_000039" "g.68201224G>A" "0.01" "{PMID:Toomes 2004:15024691}" "" "A1306A" "" "Germline" "" "" "0" "" "" "g.68433756G>A" "" "benign" ""
"0000173980" "0" "10" "11" "68206163" "68206163" "subst" "0" "00006" "LRP5_000046" "g.68206163A>G" "0.01" "{PMID:Toomes 2004:15024691}" "" "" "" "Germline" "" "" "0" "" "" "g.68438695A>G" "" "benign" ""
"0000173981" "0" "10" "11" "68207276" "68207276" "subst" "0.00247596" "00006" "LRP5_000048" "g.68207276C>T" "0.02" "{PMID:Toomes 2004:15024691}" "" "S1460S" "" "Germline" "" "" "0" "" "" "g.68439808C>T" "" "benign" ""
"0000173982" "0" "10" "11" "68207327" "68207327" "subst" "0.00225576" "00006" "LRP5_000049" "g.68207327C>T" "0.02" "{PMID:Toomes 2004:15024691}" "" "H1477H" "" "Germline" "" "" "0" "" "" "g.68439859C>T" "" "benign" ""
"0000173983" "0" "10" "11" "68207438" "68207438" "subst" "0" "00006" "LRP5_000052" "g.68207438C>A" "0.01" "{PMID:Toomes 2004:15024691}" "" "" "" "Germline" "" "" "0" "" "" "g.68439970C>A" "" "benign" ""
"0000173984" "0" "10" "11" "68207442" "68207442" "subst" "0" "00006" "LRP5_000053" "g.68207442G>A" "0.02" "{PMID:Toomes 2004:15024691}" "" "" "" "Germline" "" "" "0" "" "" "g.68439974G>A" "" "benign" ""
"0000173985" "0" "10" "11" "68213989" "68213989" "subst" "0.00758511" "00006" "LRP5_000054" "g.68213989C>T" "0.99" "{PMID:Toomes 2004:15024691}" "" "" "" "Germline" "" "" "0" "" "" "g.68446521C>T" "" "benign" ""
"0000173986" "0" "10" "11" "68115764" "68115764" "subst" "0" "00006" "LRP5_000056" "g.68115764C>T" "0.52" "{PMID:Toomes 2004:15024691}" "" "" "" "Germline" "" "" "0" "" "" "g.68348296C>T" "" "benign" ""
"0000173987" "0" "10" "11" "68125268" "68125268" "subst" "0.000199672" "00006" "LRP5_000061" "g.68125268C>T" "0.02" "{PMID:Toomes 2004:15024691}" "" "D213D" "" "Germline" "" "" "0" "" "" "g.68357800C>T" "" "benign" ""
"0000173988" "0" "10" "11" "68125376" "68125376" "subst" "0" "00006" "LRP5_000064" "g.68125376C>T" "0.01" "{PMID:Toomes 2004:15024691}" "" "" "" "Germline" "" "" "0" "" "" "g.68357908C>T" "" "benign" ""
"0000173989" "1" "90" "11" "68154089" "68154089" "subst" "0" "01251" "LRP5_000069" "g.68154089G>A" "1/16" "{PMID:Nikopoulos 2010:20340138}" "" "" "0/100 control chromosomes" "Germline" "" "" "0" "" "" "g.68386621G>A" "" "pathogenic" ""
"0000173990" "1" "90" "11" "68183946" "68183946" "subst" "0" "01251" "LRP5_000070" "g.68183946G>A" "1/16" "{PMID:Nikopoulos 2010:20340138}" "" "" "0/100 control chromosomes" "Germline" "" "" "0" "" "" "g.68416478G>A" "" "pathogenic" ""
"0000173991" "0" "10" "11" "68174018" "68174018" "subst" "1.21951E-5" "01251" "LRP5_000021" "g.68174018G>A" "1/16" "{PMID:Nikopoulos 2010:20340138}" "" "" "0/100 control chromosomes" "Germline" "" "" "0" "" "" "g.68406550G>A" "" "benign" ""
"0000173992" "1" "90" "11" "68197163" "68197163" "subst" "4.0625E-6" "01251" "LRP5_000071" "g.68197163G>T" "1/16" "{PMID:Nikopoulos 2010:20340138}" "" "" "0/100 control chromosomes" "Germline" "" "" "0" "" "" "g.68429695G>T" "" "pathogenic" ""
"0000173993" "1" "90" "11" "68213903" "68213903" "subst" "0" "01251" "LRP5_000072" "g.68213903G>A" "1/16" "{PMID:Nikopoulos 2010:20340138}" "" "" "0/100 control chromosomes" "Germline" "" "" "0" "" "" "g.68446435G>A" "" "pathogenic" ""
"0000173994" "1" "90" "11" "68153826" "68153826" "subst" "0" "01251" "LRP5_000074" "g.68153826G>A" "1/37" "{PMID:Ai 2005:16252235}" "" "" "" "Germline" "" "" "0" "" "" "g.68386358G>A" "" "pathogenic" ""
"0000173995" "2" "90" "11" "68153826" "68153826" "subst" "0" "01251" "LRP5_000074" "g.68153826G>A" "1/37" "{PMID:Ai 2005:16252235}" "" "" "" "Germline" "" "" "0" "" "" "g.68386358G>A" "" "pathogenic" ""
"0000173996" "1" "90" "11" "68153937" "68153937" "subst" "0" "01251" "LRP5_000075" "g.68153937C>A" "1/37" "{PMID:Ai 2005:16252235}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.68386469C>A" "" "pathogenic" ""
"0000173997" "1" "90" "11" "68153978" "68153978" "subst" "1.21931E-5" "01251" "LRP5_000076" "g.68153978G>A" "1/37" "{PMID:Ai 2005:16252235}" "" "" "" "Germline" "" "" "0" "" "" "g.68386510G>A" "" "pathogenic" ""
"0000173998" "2" "90" "11" "68181371" "68181374" "" "0" "01251" "LRP5_000077" "g.68181371_68181374del" "1/37" "{PMID:Ai 2005:16252235}" "" "" "" "Germline" "" "" "0" "" "" "g.68413903_68413906del" "" "pathogenic" ""
"0000173999" "1" "90" "11" "68153993" "68153993" "subst" "4.06388E-6" "01251" "LRP5_000078" "g.68153993A>G" "1/3" "Streeten 2008" "" "" "" "Germline" "" "" "0" "" "" "g.68386525A>G" "" "pathogenic" ""
"0000174000" "2" "90" "11" "68154043" "68154043" "subst" "0" "01251" "LRP5_000079" "g.68154043G>A" "3/3" "Streeten 2008" "" "" "" "Germline" "" "" "0" "" "" "g.68386575G>A" "" "pathogenic" ""
"0000174001" "1" "90" "11" "68154043" "68154043" "subst" "0" "01251" "LRP5_000079" "g.68154043G>A" "3/3" "Streeten 2008" "" "" "" "Germline" "" "" "0" "" "" "g.68386575G>A" "" "pathogenic" ""
"0000174002" "2" "90" "11" "68154043" "68154043" "subst" "0" "01251" "LRP5_000079" "g.68154043G>A" "3/3" "Streeten 2008" "" "" "" "Germline" "" "" "0" "" "" "g.68386575G>A" "" "pathogenic" ""
"0000174003" "1" "90" "11" "68154068" "68154068" "subst" "8.14186E-6" "01251" "LRP5_000080" "g.68154068G>A" "1/37" "{PMID:Ai 2005:16252235}" "" "" "" "Germline" "" "" "0" "" "" "g.68386600G>A" "" "pathogenic" ""
"0000174004" "2" "90" "11" "68157495" "68157495" "subst" "0" "01251" "LRP5_000081" "g.68157495G>T" "1/37" "{PMID:Ai 2005:16252235}" "" "" "" "Germline" "" "" "0" "" "" "g.68390027G>T" "" "pathogenic" ""
"0000174005" "1" "90" "11" "68157368" "68157368" "subst" "4.06078E-6" "01251" "LRP5_000082" "g.68157368T>A" "1/1" "Cheung 2006" "" "" "0/200 controls" "Germline" "" "" "0" "" "" "g.68389900T>A" "" "pathogenic" ""
"0000174006" "2" "90" "11" "68157448" "68157448" "subst" "8.12242E-6" "01251" "LRP5_000083" "g.68157448G>T" "1/1" "Cheung 2006" "" "" "0/200 controls" "Germline" "" "" "0" "" "" "g.68389980G>T" "" "pathogenic" ""
"0000174007" "1" "90" "11" "68154146" "68154146" "subst" "0" "01251" "LRP5_000084" "g.68154146G>A" "1/32" "{PMID:Ai 2005:16252235}" "" "" "" "Germline" "" "" "0" "" "" "g.68386678G>A" "" "pathogenic" ""
"0000174008" "2" "90" "11" "68115432" "68115433" "" "0" "01251" "LRP5_000085" "g.68115432_68115433delinsAA" "1/37" "{PMID:Ai 2005:16252235}" "" "209_210TC>AA" "" "Germline" "" "" "0" "" "" "g.68347964_68347965delinsAA" "" "pathogenic" ""
"0000174009" "1" "90" "11" "68170958" "68170958" "subst" "0" "01251" "LRP5_000086" "g.68170958A>T" "1/1" "Barros 2007" "" "" "" "Germline" "" "" "0" "" "" "g.68403490A>T" "" "pathogenic" ""
"0000174010" "2" "90" "11" "68170958" "68170958" "subst" "0" "01251" "LRP5_000086" "g.68170958A>T" "1/1" "Barros 2007" "" "" "" "Germline" "" "" "0" "" "" "g.68403490A>T" "" "pathogenic" ""
"0000174011" "1" "90" "11" "68171116" "68171116" "subst" "0" "01251" "LRP5_000087" "g.68171116C>T" "1/37" "{PMID:Ai 2005:16252235}" "" "" "" "Germline" "" "" "0" "" "" "g.68403648C>T" "" "pathogenic" ""
"0000174012" "2" "90" "11" "68213927" "68213932" "" "0" "01251" "LRP5_000088" "g.68213927_68213932delinsTGTACAACAT" "1/37" "{PMID:Ai 2005:16252235}" "" "" "" "Germline" "" "" "0" "" "" "g.68446459_68446464delinsTGTACAACAT" "" "pathogenic" ""
"0000174013" "1" "90" "11" "68174018" "68174018" "subst" "1.21951E-5" "01251" "LRP5_000021" "g.68174018G>A" "1/37" "{PMID:Ai 2005:16252235}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.68406550G>A" "" "pathogenic" ""
"0000174014" "1" "90" "11" "68177487" "68177487" "subst" "4.06164E-6" "01251" "LRP5_000089" "g.68177487T>C" "1/37" "{PMID:Ai 2005:16252235}" "" "" "" "Germline" "" "" "0" "" "" "g.68410019T>C" "" "pathogenic" ""
"0000174015" "2" "90" "11" "68177537" "68177537" "del" "0" "01251" "LRP5_000090" "g.68177537del" "2/37" "{PMID:Ai 2005:16252235}" "" "" "" "Germline" "" "" "0" "" "" "g.68410069del" "" "pathogenic" ""
"0000174016" "1" "90" "11" "68153967" "68153967" "subst" "0" "01251" "LRP5_000091" "g.68153967C>A" "1/37" "{PMID:Ai 2005:16252235}" "" "" "" "Germline" "" "" "0" "" "" "g.68386499C>A" "" "pathogenic" ""
"0000174017" "2" "90" "11" "68125236" "68125236" "subst" "0" "01251" "LRP5_000092" "g.68125236G>A" "1/32" "{PMID:Ai 2005:16252235}" "" "" "" "Germline" "" "" "0" "" "" "g.68357768G>A" "" "pathogenic" ""
"0000174018" "1" "90" "11" "68177492" "68177492" "subst" "0" "01251" "LRP5_000011" "g.68177492G>A" "1/37" "{PMID:Ai 2005:16252235}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.68410024G>A" "" "pathogenic" ""
"0000174019" "1" "90" "11" "68177537" "68177537" "del" "0" "01251" "LRP5_000090" "g.68177537del" "2/37" "{PMID:Ai 2005:16252235}" "" "" "" "Germline" "" "" "0" "" "" "g.68410069del" "" "pathogenic" ""
"0000174020" "2" "90" "11" "68181390" "68181390" "dup" "0" "01251" "LRP5_000093" "g.68181390dup" "1/37" "{PMID:Ai 2005:16252235}" "" "2737_2738insT" "" "Germline" "" "" "0" "" "" "g.68413922dup" "" "pathogenic" ""
"0000174023" "1" "90" "11" "68178994" "68179167" "" "0" "01251" "LRP5_000095" "g.68178994_68179167del" "1/37" "{PMID:Ai 2005:16252235}" "" "2409_2503+79del174" "" "Germline" "" "" "0" "" "" "g.68411526_68411699del" "" "pathogenic" ""
"0000174024" "2" "90" "11" "68191161" "68191161" "subst" "0" "01251" "LRP5_000096" "g.68191161C>T" "1/37" "{PMID:Ai 2005:16252235}" "" "" "" "Germline" "" "" "0" "" "" "g.68423693C>T" "" "pathogenic" ""
"0000174025" "1" "90" "11" "68192628" "68192628" "subst" "0" "01251" "LRP5_000097" "g.68192628G>T" "1/37" "Gong 2001; {PMID:Ai 2005:16252235}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.68425160G>T" "" "pathogenic" ""
"0000174026" "1" "90" "11" "68204461" "68204462" "" "4.06742E-6" "01251" "LRP5_000098" "g.68204461_68204462del" "1/37" "{PMID:Ai 2005:16252235}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.68436993_68436994del" "" "pathogenic" ""
"0000174029" "1" "90" "11" "68197170" "68197170" "subst" "1.21879E-5" "01251" "LRP5_000100" "g.68197170T>C" "1/37" "{PMID:Ai 2005:16252235}" "" "" "" "Germline" "" "" "0" "" "" "g.68429702T>C" "" "pathogenic" ""
"0000174030" "2" "90" "11" "68131259" "68131259" "subst" "1.2253E-5" "01251" "LRP5_000101" "g.68131259C>T" "1/37" "{PMID:Ai 2005:16252235}" "" "" "" "Germline" "" "" "0" "" "" "g.68363791C>T" "" "pathogenic" ""
"0000174031" "1" "90" "11" "68206004" "68206004" "subst" "0" "01251" "LRP5_000102" "g.68206004G>A" "1/37" "{PMID:Ai 2005:16252235}" "" "" "" "Germline" "" "" "0" "" "" "g.68438536G>A" "" "pathogenic" ""
"0000174032" "2" "90" "11" "68216280" "68216280" "subst" "0" "01251" "LRP5_000103" "g.68216280T>C" "1/37" "{PMID:Ai 2005:16252235}" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.68448812T>C" "" "pathogenic" ""
"0000174033" "1" "90" "11" "68153835" "68153835" "subst" "4.06898E-6" "01251" "LRP5_000104" "g.68153835C>T" "1/37" "{PMID:Ai 2005:16252235}" "" "" "" "Germline" "" "" "0" "" "" "g.68386367C>T" "" "pathogenic" ""
"0000174034" "2" "90" "11" "68131293" "68131293" "subst" "0" "01251" "LRP5_000105" "g.68131293G>A" "1/37" "{PMID:Ai 2005:16252235}" "" "" "" "Germline" "" "" "0" "" "" "g.68363825G>A" "" "pathogenic" ""
"0000174035" "1" "90" "11" "68131317" "68131317" "subst" "0" "01251" "LRP5_000106" "g.68131317C>A" "1/37" "{PMID:Ai 2005:16252235}" "" "" "" "Germline" "" "" "0" "" "" "g.68363849C>A" "" "pathogenic" ""
"0000174036" "2" "90" "11" "68177492" "68177492" "subst" "0" "01251" "LRP5_000011" "g.68177492G>A" "1/37" "{PMID:Ai 2005:16252235}" "" "" "" "Germline" "" "" "0" "" "" "g.68410024G>A" "" "pathogenic" ""
"0000174037" "1" "90" "11" "68133075" "68133075" "subst" "0" "01251" "LRP5_000107" "g.68133075C>T" "1/37" "{PMID:Ai 2005:16252235}" "" "" "" "Germline" "" "" "0" "" "" "g.68365607C>T" "" "pathogenic" ""
"0000174038" "2" "90" "11" "68133075" "68133075" "subst" "0" "01251" "LRP5_000107" "g.68133075C>T" "1/37" "{PMID:Ai 2005:16252235}" "" "" "" "Germline" "" "" "0" "" "" "g.68365607C>T" "" "pathogenic" ""
"0000174039" "1" "90" "11" "68133155" "68133159" "" "0" "01251" "LRP5_000108" "g.68133155_68133159dup" "1/37" "{PMID:Ai 2005:16252235}" "" "" "" "Germline" "" "" "0" "" "" "g.68365687_68365691dup" "" "pathogenic" ""
"0000174040" "2" "90" "11" "68133155" "68133159" "" "0" "01251" "LRP5_000108" "g.68133155_68133159dup" "1/37" "{PMID:Ai 2005:16252235}" "" "" "" "Germline" "" "" "0" "" "" "g.68365687_68365691dup" "" "pathogenic" ""
"0000174041" "1" "90" "11" "68153810" "68153810" "subst" "4.08503E-6" "01251" "LRP5_000109" "g.68153810C>T" "1/37" "{PMID:Ai 2005:16252235}" "" "" "" "Germline" "" "" "0" "" "" "g.68386342C>T" "" "pathogenic" ""
"0000174042" "1" "90" "11" "68192670" "68192670" "subst" "6.51949E-5" "01251" "LRP5_000110" "g.68192670C>T" "1/37" "{PMID:Ai 2005:16252235}" "" "" "" "Germline" "" "" "0" "" "" "g.68425202C>T" "" "pathogenic" ""
"0000174043" "2" "90" "11" "68174237" "68174237" "subst" "4.06312E-6" "01251" "LRP5_000024" "g.68174237G>A" "1/37" "{PMID:Ai 2005:16252235}" "" "" "" "Germline" "" "" "0" "" "" "g.68406769G>A" "" "pathogenic" ""
"0000174044" "1" "90" "11" "68201110" "68201110" "del" "0" "01251" "LRP5_000006" "g.68201110del" "2/37" "{PMID:Ai 2005:16252235}" "" "" "0/50 controls" "Germline" "" "" "0" "" "" "g.68433642del" "" "pathogenic" ""
"0000174045" "2" "90" "11" "68201110" "68201110" "del" "0" "01251" "LRP5_000006" "g.68201110del" "2/37" "{PMID:Ai 2005:16252235}" "" "" "0/50 controls" "Germline" "" "" "0" "" "" "g.68433642del" "" "pathogenic" ""
"0000174046" "0" "90" "11" "68153835" "68153835" "subst" "4.06898E-6" "01251" "LRP5_000104" "g.68153835C>T" "1/66" "Crabbe 2005" "" "" "0/390 controls" "Germline" "" "" "0" "" "" "g.68386367C>T" "" "pathogenic" ""
"0000174047" "0" "90" "11" "68154132" "68154132" "subst" "0" "01251" "LRP5_000114" "g.68154132C>T" "1/66" "Crabbe 2005" "" "" "0/390 controls" "Germline" "" "" "0" "" "" "g.68386664C>T" "" "pathogenic" ""
"0000174048" "0" "90" "11" "68157468" "68157468" "subst" "8.1246E-6" "01251" "LRP5_000112" "g.68157468A>C" "1/20" "Boonstra 2009" "" "" "0/80 controls" "Germline" "" "" "0" "" "" "g.68390000A>C" "" "pathogenic" ""
"0000174049" "0" "90" "11" "68157500" "68157500" "subst" "4.06759E-6" "01251" "LRP5_000119" "g.68157500G>A" "1/56" "Qin 2005" "" "" "0/362 controls" "Germline" "" "" "0" "" "" "g.68390032G>A" "" "pathogenic" ""
"0000174050" "0" "90" "11" "68170970" "68170970" "subst" "8.12282E-6" "01251" "LRP5_000120" "g.68170970C>T" "1/56" "Qin 2005" "" "" "0/362 controls" "Germline" "" "" "0" "" "" "g.68403502C>T" "" "pathogenic" ""
"0000174051" "0" "90" "11" "68171014" "68171014" "subst" "4.06085E-6" "01251" "LRP5_000116" "g.68171014G>A" "1/1" "Downey 2006" "" "" "0/120 controls" "Germline" "" "" "0" "" "" "g.68403546G>A" "" "pathogenic" ""
"0000174052" "0" "90" "11" "68174040" "68174040" "subst" "0" "01251" "LRP5_000121" "g.68174040T>G" "1/56" "Qin 2005" "" "" "0/362 controls" "Germline" "" "" "0" "" "" "g.68406572T>G" "" "pathogenic" ""
"0000174053" "0" "90" "11" "68178977" "68178977" "subst" "0" "01251" "LRP5_000122" "g.68178977A>G" "1/56" "Qin 2005" "" "" "0/362 controls" "Germline" "" "" "0" "" "" "g.68411509A>G" "" "pathogenic" ""
"0000174054" "0" "90" "11" "68178998" "68178998" "subst" "1.62686E-5" "01251" "LRP5_000113" "g.68178998C>T" "1/20" "Boonstra 2009" "" "" "0/80 controls" "Germline" "" "" "0" "" "" "g.68411530C>T" "" "pathogenic" ""
"0000174055" "0" "90" "11" "68181390" "68181390" "dup" "0" "01251" "LRP5_000093" "g.68181390dup" "1/20" "Hartikka 2005" "" "" "0/246 controls" "Germline" "" "" "0" "" "" "g.68413922dup" "" "pathogenic" ""
"0000174056" "0" "90" "11" "68191036" "68191036" "subst" "0.00246075" "01251" "LRP5_000117" "g.68191036G>A" "1/20" "Hartikka 2005" "" "" "0/246 controls" "Germline" "" "" "0" "" "" "g.68423568G>A" "" "pathogenic" ""
"0000174057" "0" "90" "11" "68192694" "68192694" "subst" "0.000579422" "01251" "LRP5_000123" "g.68192694A>G" "1/56" "Qin 2005" "" "" "0/362 controls" "Germline" "" "" "0" "" "" "g.68425226A>G" "" "pathogenic" ""
"0000174058" "0" "90" "11" "68216299" "68216299" "subst" "8.32494E-6" "01251" "LRP5_000115" "g.68216299G>A" "1/66" "Crabbe 2005" "" "" "0/390 controls" "Germline" "" "" "0" "" "" "g.68448831G>A" "" "pathogenic" ""
"0000174059" "0" "90" "11" "68115684" "68115684" "subst" "0" "01251" "LRP5_000124" "g.68115684G>T" "1/1" "Rickels 2005" "" "" "1/544 controls" "Germline" "" "" "0" "" "" "g.68348216G>T" "" "pathogenic" ""
"0000174060" "0" "90" "11" "68131259" "68131259" "subst" "1.2253E-5" "01251" "LRP5_000101" "g.68131259C>T" "1/37" "{PMID:Ai 2005:16252235}" "" "" "" "Germline" "" "" "0" "" "" "g.68363791C>T" "" "pathogenic" ""
"0000174061" "0" "90" "11" "68131293" "68131293" "subst" "0" "01251" "LRP5_000105" "g.68131293G>A" "1/37" "{PMID:Ai 2005:16252235}" "" "" "" "Germline" "" "" "0" "" "" "g.68363825G>A" "" "pathogenic" ""
"0000174062" "0" "90" "11" "68131372" "68131372" "subst" "0" "01251" "LRP5_000111" "g.68131372A>G" "1/1" "Balemans 2007" "" "" "0/100 controls" "Germline" "" "" "0" "" "" "g.68363904A>G" "" "pathogenic" ""
"0000174063" "0" "90" "11" "68080267" "68080267" "subst" "0" "01251" "LRP5_000118" "g.68080267G>A" "1/20" "Hartikka 2005" "" "" "0/246 controls" "Germline" "" "" "0" "" "" "g.68312799G>A" "" "pathogenic" ""
"0000174064" "3" "90" "11" "68174018" "68174018" "subst" "2.84553E-5" "02149" "LRP5_000126" "g.68174018G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68406550G>T" "" "pathogenic" ""
"0000235424" "11" "70" "11" "68157416" "68157416" "subst" "4.06078E-6" "02335" "LRP5_000127" "g.68157416C>T" "" "" "" "g.92083C>T" "another variant affecting amino acid R494 is already published as pathogenic variant: c.1481G>A, p.(R494Q)" "Germline" "" "" "0" "" "" "g.68389948C>T" "" "likely pathogenic" ""
"0000235425" "21" "70" "11" "68181241" "68181241" "subst" "0" "02335" "LRP5_000128" "g.68181241G>A" "" "" "" "g.115908G>A" "" "Germline" "" "" "0" "" "" "g.68413773G>A" "" "likely pathogenic" ""
"0000626458" "11" "90" "11" "68154032" "68154032" "subst" "4.06607E-6" "03383" "LRP5_000257" "g.68154032G>A" "" "{PMID:Fei 2014:24715757}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68386564G>A" "" "likely pathogenic (dominant)" ""
"0000626459" "21" "30" "11" "120427117" "120427117" "subst" "0" "03383" "LRP5_000255" "g.120427117T>G" "" "{PMID:Fei 2014:24715757}" "" "" "" "Germline" "no" "" "0" "" "" "g.120556408T>G" "" "likely benign" ""
"0000628278" "21" "90" "11" "68170985" "68170985" "subst" "0" "03383" "LRP5_000256" "g.68170985T>C" "0/300 control chromosomes" "{PMID:Fei 2014:24715757}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68403517T>C" "" "likely pathogenic (dominant)" ""
"0000628380" "0" "50" "11" "68181208" "68181208" "subst" "0" "03383" "LRP5_000254" "g.68181208C>T" "" "{PMID:Fei 2014:24715757}" "" "" "" "De novo" "no" "" "0" "" "" "g.68413740C>T" "" "VUS" ""
"0000629372" "3" "90" "11" "68177592" "68177592" "subst" "0" "03383" "LRP5_000094" "g.68177592C>G" "0/200 control alleles" "{PMID:Jiao 2004:15346351}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68410124C>G" "" "likely pathogenic (recessive)" ""
"0000629373" "3" "90" "11" "68204455" "68204455" "subst" "0" "03383" "LRP5_000043" "g.68204455G>A" "" "{PMID:Jiao 2004:15346351}" "" "4147G>A" "" "Germline" "yes" "" "0" "" "" "g.68436987G>A" "" "likely pathogenic (recessive)" ""
"0000629374" "3" "90" "11" "68171075" "68171075" "subst" "0" "03383" "LRP5_000019" "g.68171075G>A" "0/200 control alleles" "{PMID:Jiao 2004:15346351}" "" "1757G>A" "" "Germline" "yes" "" "0" "" "" "g.68403607G>A" "" "likely pathogenic (recessive)" ""
"0000629375" "11" "90" "11" "68157417" "68157417" "subst" "0" "03383" "LRP5_000007" "g.68157417G>A" "" "{PMID:Liu 2017:28420620}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68389949G>A" "" "pathogenic (dominant)" ""
"0000629376" "11" "90" "11" "68157443" "68157443" "subst" "8.12321E-6" "03383" "LRP5_000262" "g.68157443G>A" "" "{PMID:Liu 2017:28420620}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68389975G>A" "" "pathogenic (dominant)" ""
"0000629377" "0" "50" "11" "68153965" "68153965" "subst" "0" "03383" "LRP5_000261" "g.68153965G>T" "" "{PMID:Liu 2017:28420620}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68386497G>T" "" "VUS" ""
"0000629378" "0" "50" "11" "68115617" "68115617" "subst" "0" "03383" "LRP5_000258" "g.68115617A>G" "" "{PMID:Liu 2017:28420620}" "" "" "" "Germline" "?" "" "0" "" "" "g.68348149A>G" "" "VUS" ""
"0000629379" "21" "90" "11" "68207386" "68207386" "subst" "0" "03383" "LRP5_000050" "g.68207386T>G" "0/400 control chromosomes" "{PMID:Toomes 2004:15024691}" "" "" "frameshift after codon 1449, premature termination at codon 1502" "Germline" "yes" "" "0" "" "" "g.68439918T>G" "" "likely pathogenic" ""
"0000629380" "21" "90" "11" "68205921" "68205921" "dup" "0" "03383" "LRP5_000269" "g.68205921dup" "0/400 control chromosomes" "{PMID:Toomes 2004:15024691}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68438453dup" "" "likely pathogenic" ""
"0000629381" "0" "90" "11" "68201110" "68201110" "del" "0" "03383" "LRP5_000006" "g.68201110del" "" "{PMID:Toomes 2004:15024691}" "" "3804delA" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.68433642del" "" "likely pathogenic" ""
"0000629382" "0" "70" "11" "68125147" "68125147" "subst" "0.000378467" "03383" "LRP5_000058" "g.68125147C>T" "0/400 control chromosomes" "{PMID:Toomes 2004:15024691}" "" "" "not well conserved evolutionarily" "Germline/De novo (untested)" "?" "" "0" "" "" "g.68357679C>T" "" "likely pathogenic" ""
"0000629383" "11" "90" "11" "68193520" "68193520" "subst" "0" "03383" "LRP5_000037" "g.68193520T>C" "0/400 control chromosomes" "{PMID:Toomes 2004:15024691}" "" "" "asymptomatic father carries mutation" "Germline" "?" "" "0" "" "" "g.68426052T>C" "" "pathogenic" ""
"0000629384" "21" "90" "11" "68204437" "68204437" "subst" "1.62525E-5" "03383" "LRP5_000041" "g.68204437T>G" "0/400 control chromosomes" "{PMID:Toomes 2004:15024691}" "" "" "asymptomatic mother" "Germline" "?" "" "0" "" "" "g.68436969T>G" "" "pathogenic (dominant)" ""
"0000629436" "11" "90" "11" "68133044" "68133044" "dup" "0" "03383" "LRP5_000259" "g.68133044dup" "" "{PMID:Welinder 2015:25945592}" "" "889dupA" "complex heterozygous" "Germline" "yes" "" "0" "" "" "g.68365576dup" "" "likely pathogenic" ""
"0000629437" "0" "90" "11" "68181481" "68181481" "subst" "0" "03383" "LRP5_000266" "g.68181481G>A" "" "{PMID:Welinder 2015:25945592}" "" "" "complex heterozygous" "Germline" "yes" "" "0" "" "" "g.68414013G>A" "" "likely pathogenic" ""
"0000629440" "11" "90" "11" "68153810" "68153810" "subst" "4.08503E-6" "03383" "LRP5_000109" "g.68153810C>T" "0/200 control alleles" "{PMID:Zhang 2016:27228167}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68386342C>T" "" "pathogenic (dominant)" ""
"0000629441" "11" "90" "11" "68153909" "68153909" "subst" "4.06273E-6" "03383" "LRP5_000260" "g.68153909G>A" "0/200 control alleles" "{PMID:Zhang 2016:27228167}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68386441G>A" "" "pathogenic (dominant)" ""
"0000629442" "3" "90" "11" "68174060" "68174060" "subst" "4.06194E-6" "03383" "LRP5_000264" "g.68174060C>T" "0/200 control alleles" "{PMID:Zhang 2016:27228167}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68406592C>T" "" "pathogenic (recessive)" ""
"0000629443" "21" "90" "11" "68213965" "68213965" "subst" "0.000381757" "03383" "LRP5_000271" "g.68213965A>G" "0/200 control alleles" "{PMID:Zhang 2016:27228167}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68446497A>G" "" "pathogenic (dominant)" ""
"0000629444" "3" "70" "11" "68205911" "68205911" "subst" "0" "03383" "LRP5_000268" "g.68205911C>G" "" "{PMID:Hull 2019:31077665}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68438443C>G" "" "likely pathogenic (recessive)" ""
"0000629445" "21" "90" "11" "68201220" "68201220" "subst" "0" "03383" "LRP5_000267" "g.68201220G>A" "" "{PMID:Hull 2019:31077665}" "" "" "" "Germline" "?" "" "0" "" "" "g.68433752G>A" "" "pathogenic (dominant)" ""
"0000629446" "0" "70" "11" "68177544" "68177544" "subst" "0" "03383" "LRP5_000265" "g.68177544C>T" "" "{PMID:Hull 2019:31077665}" "" "" "heterozygous, in trans with mutation c.3914G>A" "Germline/De novo (untested)" "?" "" "0" "" "" "g.68410076C>T" "" "likely pathogenic" ""
"0000629493" "3" "90" "11" "94390094" "94390094" "del" "0" "03383" "LRP5_000272" "g.94390094del" "" "{PMID:Ai 2004:16252235}" "" "1467delG" "Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "Germline" "?" "" "0" "" "" "g.92630337del" "" "pathogenic" ""
"0000629681" "0" "30" "11" "68115489" "68115489" "subst" "0.0192666" "03383" "LRP5_000031" "g.68115489A>G" "7/29" "{PMID:Zhang 2019:31009104}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.68348021A>G" "" "VUS" ""
"0000629682" "0" "50" "11" "68201295" "68201295" "subst" "0.133814" "03383" "LRP5_000040" "g.68201295C>T" "3/29" "{PMID:Zhang 2019:31009104}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.68433827C>T" "" "likely benign" ""
"0000729811" "1" "90" "11" "68171062" "68171062" "dup" "0" "00006" "LRP5_000283" "g.68171062dup" "" "{PMID:Su 2018:29652990}" "" "1695dupC" "" "Germline" "yes" "" "0" "" "" "g.68403594dup" "" "pathogenic (dominant)" ""
"0000731132" "11" "70" "11" "68115483" "68115483" "subst" "0" "00006" "LRP5_000291" "g.68115483T>G" "" "{PMID:Lin 2018:29207047}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68348015T>G" "" "likely pathogenic (dominant)" ""
"0000731133" "21" "10" "11" "68348021" "68348021" "subst" "0" "00006" "LRP5_000031" "g.68348021A>G" "" "{PMID:Lin 2018:29207047}" "" "" "" "Germline" "no" "rs41494349" "0" "" "" "g.68115489A>G" "" "benign" ""
"0000731188" "1" "90" "11" "68153826" "68153826" "subst" "0" "00000" "LRP5_000074" "g.68153826G>A" "" "{PMID:Tang 2017:29181528}" "" "" "" "Germline" "" "" "0" "" "" "g.68386358G>A" "" "pathogenic" ""
"0000731189" "3" "90" "11" "68153951" "68153951" "subst" "1.62562E-5" "00000" "LRP5_000293" "g.68153951C>T" "" "{PMID:Tang 2017:29181528}" "" "" "" "Germline" "" "" "0" "" "" "g.68386483C>T" "" "pathogenic" ""
"0000731190" "1" "90" "11" "68154086" "68154086" "subst" "0" "00000" "LRP5_000294" "g.68154086A>T" "" "{PMID:Tang 2017:29181528}" "" "" "" "Germline" "" "" "0" "" "" "g.68386618A>T" "" "pathogenic" ""
"0000731191" "1" "90" "11" "68157518" "68157518" "subst" "4.07844E-6" "00000" "LRP5_000295" "g.68157518G>A" "" "{PMID:Tang 2017:29181528}" "" "" "" "Germline" "" "rs749683290" "0" "" "" "g.68390050G>A" "" "pathogenic" ""
"0000731192" "1" "90" "11" "68174132" "68174132" "subst" "0" "00000" "LRP5_000296" "g.68174132G>A" "" "{PMID:Tang 2017:29181528}" "" "" "" "Germline" "" "" "0" "" "" "g.68406664G>A" "" "pathogenic" ""
"0000731193" "1" "90" "11" "68181391" "68181391" "subst" "0" "00000" "LRP5_000297" "g.68181391G>T" "" "{PMID:Tang 2017:29181528}" "" "" "" "Germline" "" "" "0" "" "" "g.68413923G>T" "" "pathogenic" ""
"0000731194" "1" "90" "11" "68204443" "68204443" "subst" "0" "00000" "LRP5_000298" "g.68204443G>C" "" "{PMID:Tang 2017:29181528}" "" "" "" "Germline" "" "" "0" "" "" "g.68436975G>C" "" "pathogenic" ""
"0000731195" "1" "90" "11" "68216423" "68216423" "subst" "4.08991E-6" "00000" "LRP5_000299" "g.68216423C>T" "" "{PMID:Tang 2017:29181528}" "" "" "" "Germline" "" "" "0" "" "" "g.68448955C>T" "" "pathogenic" ""
"0000731201" "1" "90" "11" "68207386" "68207386" "subst" "0" "00000" "LRP5_000050" "g.68207386T>G" "" "{PMID:Tang 2017:29181528}" "" "" "" "Germline" "" "" "0" "" "" "g.68439918T>G" "" "pathogenic" ""
"0000731202" "1" "90" "11" "68207386" "68207386" "subst" "0" "00000" "LRP5_000050" "g.68207386T>G" "" "{PMID:Tang 2017:29181528}" "" "" "" "Germline" "" "" "0" "" "" "g.68439918T>G" "" "pathogenic" ""
"0000731206" "1" "90" "11" "68115313" "68115313" "subst" "0" "00000" "LRP5_000292" "g.68115313A>C" "" "{PMID:Tang 2017:29181528}" "" "" "" "Germline" "" "" "0" "" "" "g.68347845A>C" "" "pathogenic" ""
"0000732529" "1" "90" "11" "68204409" "68204409" "del" "0" "00000" "LRP5_000301" "g.68204409del" "" "{PMID:Huang 2017:28867931}" "" "4053delC" "" "Germline" "" "" "0" "" "" "g.68436941del" "" "pathogenic" ""
"0000732531" "1" "90" "11" "68131276" "68131277" "del" "0" "00000" "LRP5_000300" "g.68131276_68131277del" "" "{PMID:Huang 2017:28867931}" "" "746_747delCT" "" "Germline" "" "" "0" "" "" "g.68363808_68363809del" "" "pathogenic" ""
"0000732607" "0" "50" "11" "68213989" "68213989" "subst" "0.00758511" "00000" "LRP5_000054" "g.68213989C>T" "" "{PMID:Wang 2017:28838317}" "" "" "" "Germline" "" "" "0" "" "" "g.68446521C>T" "" "VUS" ""
"0000735175" "3" "50" "11" "68206070" "68206070" "subst" "6.52837E-5" "00000" "LRP5_000306" "g.68206070C>T" "" "{PMID:Li 2017:28418496}" "" "" "" "Germline" "" "" "0" "" "" "g.68438602C>T" "" "VUS" ""
"0000735183" "3" "30" "11" "68207342" "68207342" "subst" "0.000463415" "00000" "LRP5_000307" "g.68207342G>C" "" "{PMID:Maranha 2015:26352687}, {DOI:Maranhao 2015:10.1371/journal.pone.0136561}" "" "" "" "Germline" "" "rs142191419" "0" "" "" "g.68439874G>C" "" "likely benign" ""
"0000735809" "3" "90" "11" "68154068" "68154068" "subst" "8.14186E-6" "00000" "LRP5_000080" "g.68154068G>A" "" "{PMID:Keser 2017:28192794}" "" "G1300A" "" "Germline" "yes" "" "0" "" "" "g.68386600G>A" "" "pathogenic" ""
"0000735810" "3" "90" "11" "68170988" "68170988" "subst" "0" "00000" "LRP5_000304" "g.68170988T>C" "" "{PMID:Keser 2017:28192794}" "" "T1622C" "" "Germline" "" "" "0" "" "" "g.68403520T>C" "" "pathogenic" ""
"0000735811" "3" "90" "11" "68174018" "68174018" "subst" "1.21951E-5" "00000" "LRP5_000305" "g.68174018G>C" "" "{PMID:Keser 2017:28192794}" "" "G1828C" "" "Germline" "yes" "" "0" "" "" "g.68406550G>C" "" "pathogenic" ""
"0000735813" "3" "70" "11" "68115458" "68115458" "subst" "0" "00000" "LRP5_000302" "g.68115458T>C" "" "{PMID:Keser 2017:28192794}" "" "T235C" "" "Germline" "yes" "" "0" "" "" "g.68347990T>C" "" "likely pathogenic" ""
"0000735815" "3" "90" "11" "68206004" "68206004" "subst" "0" "00000" "LRP5_000102" "g.68206004G>A" "" "{PMID:Keser 2017:28192794}" "" "G4202A" "" "Germline" "yes" "" "0" "" "" "g.68438536G>A" "" "pathogenic" ""
"0000735817" "1" "90" "11" "68115648" "68115648" "subst" "3.67488E-5" "00000" "LRP5_000303" "g.68115648G>A" "" "{PMID:Keser 2017:28192794}" "" "G425A" "" "Germline" "" "" "0" "" "" "g.68348180G>A" "" "pathogenic" ""
"0000760070" "0" "50" "11" "68179074" "68179074" "subst" "1.23039E-5" "00000" "LRP5_000310" "g.68179074C>T" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.68411606C>T" "" "VUS" ""
"0000760179" "0" "50" "11" "68115344" "68115344" "subst" "0" "00000" "LRP5_000308" "g.68115344C>T" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.68347876C>T" "" "VUS" ""
"0000760434" "0" "50" "11" "68153802" "68153802" "subst" "0" "00000" "LRP5_000309" "g.68153802T>A" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.68386334T>A" "" "VUS" ""
"0000765772" "0" "70" "11" "68171021" "68171021" "subst" "0" "00000" "LRP5_000314" "g.68171021C>T" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.68403553C>T" "" "likely pathogenic" ""
"0000765810" "0" "70" "11" "68125314" "68125314" "subst" "4.2117E-5" "00000" "LRP5_000312" "g.68125314C>T" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.68357846C>T" "" "likely pathogenic" ""
"0000766012" "1" "70" "11" "68131259" "68131259" "subst" "0" "00000" "LRP5_000313" "g.68131259C>G" "" "{PMID:Seo 2015:26244290}" "" "" "not in 348 control alleles" "Germline" "" "" "0" "" "" "g.68363791C>G" "" "likely pathogenic (dominant)" ""
"0000766013" "1" "70" "11" "68154098" "68154098" "subst" "2.0384E-5" "00000" "LRP5_000014" "g.68154098C>T" "" "{PMID:Seo 2015:26244290}" "" "" "not in 358 control alleles" "Germline" "" "" "0" "" "" "g.68386630C>T" "" "likely pathogenic (dominant)" ""
"0000766014" "1" "70" "11" "68174023" "68174023" "dup" "0" "00000" "LRP5_000315" "g.68174023dup" "" "{PMID:Seo 2015:26244290}" "" "1833dupG" "" "Germline" "" "" "0" "" "" "g.68406555dup" "" "likely pathogenic (dominant)" ""
"0000766015" "1" "70" "11" "68204454" "68204454" "subst" "0" "00000" "LRP5_000316" "g.68204454C>G" "" "{PMID:Seo 2015:26244290}" "" "4098C>G" "not in 360 control alleles" "Germline" "" "" "0" "" "" "g.68436986C>G" "" "likely pathogenic (dominant)" ""
"0000766018" "1" "30" "11" "68192694" "68192694" "subst" "0.000579422" "00000" "LRP5_000123" "g.68192694A>G" "1/51 patients" "{PMID:Seo 2015:26244290}" "" "" "" "Germline" "" "" "0" "" "" "g.68425226A>G" "" "likely benign" ""
"0000766019" "1" "30" "11" "68080237" "68080242" "del" "0" "00000" "LRP5_000311" "g.68080237_68080242del" "1/51 patients" "{PMID:Seo 2015:26244290}" "" "55_60delCTGCTG" "not in 346 control alleles" "Germline" "" "" "0" "" "" "g.68312769_68312774del" "" "likely benign" ""
"0000766023" "1" "10" "11" "68080240" "68080242" "dup" "0" "00000" "LRP5_000133" "g.68080240_68080242dup" "3/340 control alleles" "{PMID:Seo 2015:26244290}" "" "58_60dupCTG" "" "Germline" "" "" "0" "" "" "g.68312772_68312774dup" "" "benign" ""
"0000783993" "0" "50" "11" "68131333" "68131333" "subst" "0" "00006" "LRP5_000317" "g.68131333G>T" "1/314 cases" "{PMID:Xu 2015:25999675}" "" "" "" "Germline" "" "" "0" "" "" "g.68363865G>T" "" "VUS" ""
"0000784613" "0" "50" "11" "68191014" "68191014" "subst" "0" "00000" "LRP5_000326" "g.68191014C>T" "1/314 case chromosomes" "{PMID:Xu 2015:25999675}" "" "" "0/1266 control chromosomes" "Germline" "" "" "0" "" "" "g.68423546C>T" "" "VUS" ""
"0000784617" "0" "50" "11" "68206099" "68206099" "subst" "0.00020438" "00000" "LRP5_000332" "g.68206099G>A" "1/314 case chromosomes" "{PMID:Xu 2015:25999675}" "" "" "2/1266 control chromosomes" "Germline" "" "rs199871539" "0" "" "" "g.68438631G>A" "" "VUS" ""
"0000785473" "0" "90" "11" "68157500" "68157500" "subst" "4.06759E-6" "00000" "LRP5_000119" "g.68157500G>A" "" "{PMID:Salvo 2015:25711638}" "" "" "" "Germline" "" "rs80358309" "0" "" "" "g.68390032G>A" "" "pathogenic" ""
"0000785474" "0" "90" "11" "68192736" "68192736" "subst" "0.000251325" "00000" "LRP5_000207" "g.68192736C>T" "" "{PMID:Salvo 2015:25711638}" "" "" "" "Germline" "" "rs143396225" "0" "" "" "g.68425268C>T" "" "pathogenic" ""
"0000785475" "0" "90" "11" "68177592" "68177592" "del" "0" "00000" "LRP5_000322" "g.68177592del" "" "{PMID:Salvo 2015:25711638}" "" "2300delC" "" "Germline" "" "" "0" "" "" "g.68410124del" "" "pathogenic" ""
"0000785476" "0" "90" "11" "68181371" "68181374" "del" "0" "00000" "LRP5_000077" "g.68181371_68181374del" "" "{PMID:Salvo 2015:25711638}" "" "2716_2719del" "" "Germline" "yes" "" "0" "" "" "g.68413903_68413906del" "" "pathogenic" ""
"0000785477" "0" "90" "11" "68181390" "68181390" "dup" "0" "00000" "LRP5_000093" "g.68181390dup" "" "{PMID:Salvo 2015:25711638}" "" "2737dupT" "" "Germline" "" "" "0" "" "" "g.68413922dup" "" "pathogenic" ""
"0000785478" "0" "90" "11" "68204443" "68204443" "subst" "8.12955E-6" "00000" "LRP5_000331" "g.68204443G>A" "" "{PMID:Salvo 2015:25711638}" "" "" "" "Germline" "" "" "0" "" "" "g.68436975G>A" "" "pathogenic" ""
"0000785479" "0" "90" "11" "68192643" "68192643" "subst" "2.85195E-5" "00000" "LRP5_000328" "g.68192643G>A" "" "{PMID:Salvo 2015:25711638}" "" "" "" "Germline" "" "" "0" "" "" "g.68425175G>A" "" "pathogenic" ""
"0000785480" "0" "90" "11" "68181288" "68181288" "subst" "0" "00000" "LRP5_000325" "g.68181288C>T" "" "{PMID:Salvo 2015:25711638}" "" "" "" "Germline" "" "" "0" "" "" "g.68413820C>T" "" "pathogenic" ""
"0000785481" "0" "90" "11" "68216410" "68216410" "subst" "3.67341E-5" "00000" "LRP5_000334" "g.68216410C>G" "" "{PMID:Salvo 2015:25711638}" "" "" "" "Germline" "" "" "0" "" "" "g.68448942C>G" "" "pathogenic" ""
"0000785482" "0" "90" "11" "68213932" "68213932" "subst" "3.24989E-5" "00000" "LRP5_000333" "g.68213932C>T" "" "{PMID:Salvo 2015:25711638}" "" "" "" "Germline" "" "" "0" "" "" "g.68446464C>T" "" "pathogenic" ""
"0000785483" "0" "90" "11" "68154032" "68154032" "subst" "4.06607E-6" "00000" "LRP5_000257" "g.68154032G>A" "" "{PMID:Salvo 2015:25711638}" "" "" "" "Germline" "" "" "0" "" "" "g.68386564G>A" "" "pathogenic" ""
"0000785484" "0" "90" "11" "68153967" "68153967" "subst" "0" "00000" "LRP5_000091" "g.68153967C>A" "" "{PMID:Salvo 2015:25711638}" "" "" "" "Germline" "" "" "0" "" "" "g.68386499C>A" "" "pathogenic" ""
"0000785485" "0" "90" "11" "68204405" "68204405" "subst" "0.000178724" "00000" "LRP5_000330" "g.68204405T>G" "" "{PMID:Salvo 2015:25711638}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68436937T>G" "" "pathogenic" ""
"0000785486" "0" "90" "11" "68154033" "68154033" "subst" "2.43966E-5" "00000" "LRP5_000320" "g.68154033C>T" "" "{PMID:Salvo 2015:25711638}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68386565C>T" "" "pathogenic" ""
"0000785487" "0" "90" "11" "68201088" "68201088" "subst" "1.23022E-5" "00000" "LRP5_000329" "g.68201088C>G" "" "{PMID:Salvo 2015:25711638}" "" "" "" "Germline" "" "" "0" "" "" "g.68433620C>G" "" "pathogenic" ""
"0000785488" "0" "90" "11" "68131331" "68131331" "subst" "4.07146E-6" "00000" "LRP5_000319" "g.68131331G>A" "" "{PMID:Salvo 2015:25711638}" "" "" "" "Germline" "" "" "0" "" "" "g.68363863G>A" "" "pathogenic" ""
"0000785489" "0" "90" "11" "68177608" "68177608" "subst" "0" "00000" "LRP5_000323" "g.68177608G>A" "" "{PMID:Salvo 2015:25711638}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68410140G>A" "" "pathogenic" ""
"0000785512" "0" "90" "11" "68181196" "68181196" "subst" "0" "00000" "LRP5_000324" "g.68181196C>T" "" "{PMID:Salvo 2015:25711638}" "" "" "" "Germline" "" "" "0" "" "" "g.68413728C>T" "" "pathogenic" ""
"0000785513" "0" "90" "11" "68153810" "68153810" "subst" "4.08503E-6" "00000" "LRP5_000109" "g.68153810C>T" "" "{PMID:Salvo 2015:25711638}" "" "" "" "Germline" "" "" "0" "" "" "g.68386342C>T" "" "pathogenic" ""
"0000785514" "0" "90" "11" "68154038" "68154038" "subst" "8.13345E-6" "00000" "LRP5_000321" "g.68154038G>A" "" "{PMID:Salvo 2015:25711638}" "" "" "" "Germline" "" "" "0" "" "" "g.68386570G>A" "" "pathogenic" ""
"0000785515" "0" "90" "11" "68153951" "68153951" "subst" "1.62562E-5" "00000" "LRP5_000293" "g.68153951C>T" "" "{PMID:Salvo 2015:25711638}" "" "" "" "Germline" "" "" "0" "" "" "g.68386483C>T" "" "pathogenic" ""
"0000785516" "0" "90" "11" "68115342" "68115342" "subst" "0" "00000" "LRP5_000318" "g.68115342G>A" "" "{PMID:Salvo 2015:25711638}" "" "" "" "Germline" "" "" "0" "" "" "g.68347874G>A" "" "pathogenic" ""
"0000785517" "0" "90" "11" "68192637" "68192637" "subst" "1.63026E-5" "00000" "LRP5_000327" "g.68192637G>A" "" "{PMID:Salvo 2015:25711638}" "" "" "" "Germline" "" "" "0" "" "" "g.68425169G>A" "" "pathogenic" ""
"0000785518" "0" "90" "11" "68154032" "68154032" "subst" "4.06607E-6" "00000" "LRP5_000257" "g.68154032G>A" "" "{PMID:Salvo 2015:25711638}" "" "" "" "Germline" "" "" "0" "" "" "g.68386564G>A" "" "pathogenic" ""
"0000786521" "10" "90" "11" "68191036" "68191036" "subst" "0.00246075" "00006" "LRP5_000117" "g.68191036G>A" "" "{PMID:Stiegel 2013:25390515}" "" "" "" "Germline" "" "" "0" "" "" "g.68423568G>A" "" "pathogenic" ""
"0000788383" "0" "50" "11" "68207377" "68207377" "subst" "0" "00000" "LRP5_000336" "g.68207377A>C" "" "{PMID:Katagiri 2014:25268133}" "" "A4481C" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000788455" "0" "50" "11" "68205950" "68205950" "subst" "1.62496E-5" "00000" "LRP5_000335" "g.68205950A>C" "" "{PMID:Katagiri 2014:25268133}" "" "A4148C" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000790151" "0" "70" "11" "68178998" "68178998" "subst" "1.62686E-5" "00000" "LRP5_000113" "g.68178998C>T" "" "{PMID:Boonstra 2009:1932484}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000790152" "0" "70" "11" "68157468" "68157468" "subst" "8.1246E-6" "00000" "LRP5_000112" "g.68157468A>C" "" "{PMID:Boonstra 2009:1932484}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000794271" "0" "70" "11" "68207385" "68207385" "subst" "0" "03508" "LRP5_000233" "g.68207385G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000794949" "0" "70" "11" "68179069" "68179069" "subst" "0" "00000" "LRP5_000337" "g.68179069C>G" "1/49 families; 0/96 controls" "{PMID:Yang-2012:23077402}" "" "c.891892delTC" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000794950" "0" "70" "11" "68179069" "68179069" "subst" "0" "00000" "LRP5_000337" "g.68179069C>G" "1/49 families; 0/96 controls" "{PMID:Yang-2012:23077402}" "" "c.[2484C>G]+[2626G>A]" "" "Unknown" "" "" "0" "" "" "g.68411601C>G" "" "likely pathogenic" ""
"0000794951" "0" "70" "11" "68181279" "68181279" "subst" "0" "00000" "LRP5_000412" "g.68181279G>A" "1/49 families; 0/96 controls" "{PMID:Yang-2012:23077402}" "" "c.[2484C>G]+[2626G>A]" "" "Unknown" "" "" "0" "" "" "g.68413811G>A" "" "likely pathogenic" ""
"0000794952" "0" "70" "11" "68192694" "68192694" "subst" "0.000579422" "00000" "LRP5_000123" "g.68192694A>G" "1/49 families" "{PMID:Yang-2012:23077402}" "" "c.3361A>G" "" "Unknown" "" "" "0" "" "" "g.68425226A>G" "" "likely pathogenic" ""
"0000794953" "0" "70" "11" "68204381" "68204381" "subst" "2.84453E-5" "00000" "LRP5_000099" "g.68204381G>A" "1/49 families; 0/96 controls" "{PMID:Yang-2012:23077402}" "" "c.4025G>A" "" "Germline" "yes" "" "0" "" "" "g.68436913G>A" "" "likely pathogenic" ""
"0000794954" "0" "70" "11" "68204381" "68204381" "subst" "2.84453E-5" "00000" "LRP5_000099" "g.68204381G>A" "1/49 families; 0/96 controls" "{PMID:Yang-2012:23077402}" "" "c.4025G>A" "" "Germline" "yes" "" "0" "" "" "g.68436913G>A" "" "likely pathogenic" ""
"0000794955" "0" "70" "11" "68204443" "68204443" "subst" "8.12955E-6" "00000" "LRP5_000331" "g.68204443G>A" "1/49 families; 0/96 controls" "{PMID:Yang-2012:23077402}" "" "c.4087G>A" "" "Germline" "yes" "" "0" "" "" "g.68436975G>A" "" "likely pathogenic" ""
"0000794956" "0" "70" "11" "68204443" "68204443" "subst" "8.12955E-6" "00000" "LRP5_000331" "g.68204443G>A" "1/49 families; 0/96 controls" "{PMID:Yang-2012:23077402}" "" "c.4087G>A" "" "Germline" "yes" "" "0" "" "" "g.68436975G>A" "" "likely pathogenic" ""
"0000795580" "11" "50" "11" "68192694" "68192694" "subst" "0.000579422" "00000" "LRP5_000123" "g.68192694A>G" "" "{PMID:Surl 2020:32165824}" "" "c.3361A>G, p.N1121D" "" "Germline" "yes" "" "0" "" "" "g.68425226A>G" "" "VUS" "ACMG"
"0000795581" "21" "50" "11" "68201228" "68201228" "subst" "4.11465E-6" "00000" "LRP5_000342" "g.68201228G>A" "" "{PMID:Surl 2020:32165824}" "" "c.3922G>A, p.G1308S" "" "Germline" "yes" "" "0" "" "" "g.68433760G>A" "" "VUS" "ACMG"
"0000795582" "11" "50" "11" "68192694" "68192694" "subst" "0.000579422" "00000" "LRP5_000123" "g.68192694A>G" "" "{PMID:Surl 2020:32165824}" "" "c.3361A>G, p.N1121D" "" "Germline" "yes" "" "0" "" "" "g.68425226A>G" "" "VUS" "ACMG"
"0000795583" "11" "50" "11" "68193556" "68193556" "subst" "4.07349E-6" "00000" "LRP5_000340" "g.68193556G>A" "" "{PMID:Surl 2020:32165824}" "" "c.3538G>A, p.V1180M" "" "Germline" "yes" "" "0" "" "" "g.68426088G>A" "" "VUS" "ACMG"
"0000795584" "11" "50" "11" "68181231" "68181231" "subst" "0" "00000" "LRP5_000339" "g.68181231T>C" "" "{PMID:Surl 2020:32165824}" "" "c.2578T>C, p.W860R" "" "Germline" "yes" "" "0" "" "" "g.68413763T>C" "" "VUS" "ACMG"
"0000795585" "11" "50" "11" "68177378" "68177378" "subst" "0" "00000" "LRP5_000338" "g.68177378C>T" "" "{PMID:Surl 2020:32165824}" "" "c.2092-4C>T, p.W860R" "error in annotation, alteration causes splicing change and not amino acid substitution" "Germline" "yes" "" "0" "" "" "g.68409910C>T" "" "VUS" "ACMG"
"0000795586" "21" "50" "11" "68204440" "68204440" "subst" "1.21899E-5" "00000" "LRP5_000344" "g.68204440A>G" "" "{PMID:Surl 2020:32165824}" "" "c.4084A>G, p.I1362V" "" "Germline" "yes" "" "0" "" "" "g.68436972A>G" "" "VUS" "ACMG"
"0000795587" "21" "70" "11" "68204405" "68204405" "subst" "0" "00000" "LRP5_000343" "g.68204405T>A" "" "{PMID:Surl 2020:32165824}" "" "c.2306T>A, p.L769H" "different transcript: NM_001291902.1(LRP5):c.2306T>A, p.Leu769His" "Germline" "yes" "" "0" "" "" "g.68436937T>A" "" "likely pathogenic" "ACMG"
"0000795588" "11" "70" "11" "68213932" "68213932" "subst" "3.24989E-5" "00000" "LRP5_000333" "g.68213932C>T" "" "{PMID:Surl 2020:32165824}" "" "c.4517C>T, p.T1506M" "" "Germline" "yes" "" "0" "" "" "g.68446464C>T" "" "likely pathogenic" "ACMG"
"0000795606" "21" "50" "11" "68192694" "68192694" "subst" "0.000579422" "00000" "LRP5_000123" "g.68192694A>G" "" "{PMID:Surl 2020:32165824}" "" "c.3361A>G, p.N1121D" "" "Germline" "yes" "" "0" "" "" "g.68425226A>G" "" "VUS" "ACMG"
"0000796067" "0" "90" "11" "68197061" "68197061" "subst" "3.2501E-5" "00000" "LRP5_000341" "g.68197061G>A" "" "{PMID:Kondo-2013:23441120}" "" "c.3656G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000796068" "0" "90" "11" "68205950" "68205950" "subst" "1.62496E-5" "00000" "LRP5_000335" "g.68205950A>C" "" "{PMID:Kondo-2013:23441120}" "" "c.4148A>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000796069" "0" "90" "11" "68216309" "68216309" "subst" "0.000202635" "00000" "LRP5_000239" "g.68216309C>T" "" "{PMID:Kondo-2013:23441120}" "" "c.4619C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000797012" "0" "50" "11" "68157484" "68157484" "subst" "0" "00000" "LRP5_000345" "g.68157484G>T" "" "{PMID:Wang-2014:24154662}" "" "c.1548G>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000797013" "0" "50" "11" "68206099" "68206099" "subst" "0.00020438" "00000" "LRP5_000332" "g.68206099G>A" "" "{PMID:Wang-2014:24154662}" "" "c.4297G>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000797215" "3" "70" "11" "68207346" "68207346" "dup" "0" "00000" "LRP5_000374" "g.68207346dup" "" "{PMID:Ravesh 2018:30416334}" "" "differenttranscript(NM_001291902):c.2707dupA;p.(S903Kfs*66)" "" "Germline" "?" "" "0" "" "" "g.68439878dup" "" "likely pathogenic" "ACMG"
"0000797305" "21" "50" "11" "68154033" "68154033" "subst" "2.43966E-5" "00000" "LRP5_000320" "g.68154033C>T" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "no" "" "0" "" "" "g.68386565C>T" "" "VUS" ""
"0000797306" "11" "50" "11" "68193554" "68193554" "subst" "2.44405E-5" "00000" "LRP5_000369" "g.68193554G>A" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "no" "" "0" "" "" "g.68426086G>A" "" "VUS" ""
"0000797307" "21" "50" "11" "68201283" "68201283" "subst" "4.98571E-5" "00000" "LRP5_000370" "g.68201283G>A" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "no" "" "0" "" "" "g.68433815G>A" "" "VUS" ""
"0000797308" "21" "50" "11" "68216333" "68216333" "subst" "0.000229123" "00000" "LRP5_000378" "g.68216333G>T" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "no" "" "0" "" "" "g.68448865G>T" "" "VUS" ""
"0000797309" "21" "50" "11" "68183840" "68183840" "subst" "1.62542E-5" "00000" "LRP5_000367" "g.68183840C>T" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "no" "" "0" "" "" "g.68416372C>T" "" "VUS" ""
"0000797310" "21" "50" "11" "68192694" "68192694" "subst" "0.000579422" "00000" "LRP5_000123" "g.68192694A>G" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "no" "" "0" "" "" "g.68425226A>G" "" "VUS" ""
"0000797311" "11" "50" "11" "68177378" "68177378" "subst" "0" "00000" "LRP5_000338" "g.68177378C>T" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "no" "" "0" "" "" "g.68409910C>T" "" "VUS" ""
"0000797312" "21" "50" "11" "68177527" "68177527" "subst" "2.43881E-5" "00000" "LRP5_000362" "g.68177527G>A" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "no" "" "0" "" "" "g.68410059G>A" "" "VUS" ""
"0000797313" "11" "50" "11" "68192694" "68192694" "subst" "0.000579422" "00000" "LRP5_000123" "g.68192694A>G" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "no" "" "0" "" "" "g.68425226A>G" "" "VUS" ""
"0000797314" "11" "50" "11" "68192694" "68192694" "subst" "0.000579422" "00000" "LRP5_000123" "g.68192694A>G" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "no" "" "0" "" "" "g.68425226A>G" "" "VUS" ""
"0000797315" "11" "50" "11" "68125147" "68125147" "subst" "0.000378467" "00000" "LRP5_000058" "g.68125147C>T" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "no" "" "0" "" "" "g.68357679C>T" "" "VUS" ""
"0000797316" "11" "50" "11" "68192694" "68192694" "subst" "0.000579422" "00000" "LRP5_000123" "g.68192694A>G" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "no" "" "0" "" "" "g.68425226A>G" "" "VUS" ""
"0000797317" "21" "50" "11" "68178962" "68178962" "subst" "0" "00000" "LRP5_000365" "g.68178962G>A" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "no" "" "0" "" "" "g.68411494G>A" "" "VUS" ""
"0000797318" "11" "50" "11" "68206070" "68206070" "subst" "6.52837E-5" "00000" "LRP5_000306" "g.68206070C>T" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "no" "" "0" "" "" "g.68438602C>T" "" "VUS" ""
"0000797319" "21" "50" "11" "68207380" "68207380" "subst" "1.89523E-5" "00000" "LRP5_000376" "g.68207380C>T" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "no" "" "0" "" "" "g.68439912C>T" "" "VUS" ""
"0000797320" "21" "50" "11" "68192694" "68192694" "subst" "0.000579422" "00000" "LRP5_000123" "g.68192694A>G" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "no" "" "0" "" "" "g.68425226A>G" "" "VUS" ""
"0000797321" "11" "50" "11" "68192694" "68192694" "subst" "0.000579422" "00000" "LRP5_000123" "g.68192694A>G" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "no" "" "0" "" "" "g.68425226A>G" "" "VUS" ""
"0000797322" "11" "50" "11" "68154117" "68154117" "subst" "4.08243E-6" "00000" "LRP5_000355" "g.68154117G>A" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "no" "" "0" "" "" "g.68386649G>A" "" "VUS" ""
"0000797323" "11" "90" "11" "68115656" "68115656" "subst" "0" "00000" "LRP5_000045" "g.68115656C>T" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "no" "" "0" "" "" "g.68348188C>T" "" "pathogenic" ""
"0000797324" "0" "50" "11" "68192694" "68192694" "subst" "0.000579422" "00000" "LRP5_000123" "g.68192694A>G" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.68425226A>G" "" "VUS" ""
"0000797325" "11" "50" "11" "68192694" "68192694" "subst" "0.000579422" "00000" "LRP5_000123" "g.68192694A>G" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "?" "" "0" "" "" "g.68425226A>G" "" "VUS" ""
"0000797326" "0" "50" "11" "68207353" "68207353" "subst" "1.73623E-5" "00000" "LRP5_000375" "g.68207353C>T" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.68439885C>T" "" "VUS" ""
"0000797327" "21" "90" "11" "68171074" "68171074" "subst" "0" "00000" "LRP5_000008" "g.68171074C>T" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "?" "" "0" "" "" "g.68403606C>T" "" "pathogenic" ""
"0000797328" "11" "50" "11" "68154146" "68154146" "subst" "0" "00000" "LRP5_000084" "g.68154146G>A" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "?" "" "0" "" "" "g.68386678G>A" "" "VUS" ""
"0000797329" "21" "90" "11" "68174060" "68174060" "subst" "4.06194E-6" "00000" "LRP5_000264" "g.68174060C>T" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "?" "" "0" "" "" "g.68406592C>T" "" "pathogenic" ""
"0000797330" "21" "50" "11" "68177391" "68177391" "subst" "4.0624E-6" "00000" "LRP5_000361" "g.68177391C>T" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "?" "" "0" "" "" "g.68409923C>T" "" "VUS" ""
"0000797331" "21" "90" "11" "68204405" "68204405" "subst" "0" "00000" "LRP5_000343" "g.68204405T>A" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68436937T>A" "" "pathogenic" ""
"0000797332" "21" "90" "11" "68153891" "68153891" "subst" "8.12744E-6" "00000" "LRP5_000351" "g.68153891G>A" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68386423G>A" "" "pathogenic" ""
"0000797333" "21" "90" "11" "68205912" "68205912" "subst" "0" "00000" "LRP5_000372" "g.68205912A>G" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68438444A>G" "" "pathogenic" ""
"0000797334" "21" "90" "11" "68206153" "68206153" "subst" "0" "00000" "LRP5_000373" "g.68206153A>C" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68438685A>C" "" "pathogenic" ""
"0000797335" "21" "90" "11" "68174060" "68174060" "subst" "4.06194E-6" "00000" "LRP5_000264" "g.68174060C>T" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68406592C>T" "" "pathogenic" ""
"0000797336" "21" "90" "11" "68115344" "68115344" "subst" "0" "00000" "LRP5_000308" "g.68115344C>T" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68347876C>T" "" "pathogenic" ""
"0000797337" "11" "90" "11" "68157416" "68157416" "subst" "4.06078E-6" "00000" "LRP5_000127" "g.68157416C>T" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68389948C>T" "" "pathogenic" ""
"0000797338" "21" "90" "11" "68204383" "68204383" "subst" "0" "00000" "LRP5_000371" "g.68204383T>G" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68436915T>G" "" "pathogenic" ""
"0000797339" "21" "90" "11" "68192725" "68192725" "subst" "0" "00000" "LRP5_000206" "g.68192725C>T" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68425257C>T" "" "pathogenic" ""
"0000797340" "11" "90" "11" "68153961" "68153961" "subst" "2.03173E-5" "00000" "LRP5_000353" "g.68153961G>A" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68386493G>A" "" "pathogenic" ""
"0000797341" "11" "90" "11" "68131399" "68131399" "subst" "0" "00000" "LRP5_000350" "g.68131399C>T" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68363931C>T" "" "pathogenic" ""
"0000797342" "21" "90" "11" "68153913" "68153913" "subst" "4.06263E-6" "00000" "LRP5_000352" "g.68153913C>T" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68386445C>T" "" "pathogenic" ""
"0000797343" "21" "90" "11" "68179019" "68179019" "subst" "0" "00000" "LRP5_000366" "g.68179019G>A" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68411551G>A" "" "pathogenic" ""
"0000797344" "11" "90" "11" "68191051" "68191051" "subst" "8.12203E-6" "00000" "LRP5_000368" "g.68191051C>T" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68423583C>T" "" "pathogenic" ""
"0000797345" "11" "50" "11" "68192694" "68192694" "subst" "0.000579422" "00000" "LRP5_000123" "g.68192694A>G" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68425226A>G" "" "VUS" ""
"0000797346" "21" "90" "11" "68179032" "68179032" "subst" "0" "00000" "LRP5_000255" "g.68179032A>C" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68411564A>C" "" "pathogenic" ""
"0000797347" "11" "90" "11" "68131349" "68131349" "subst" "0" "00000" "LRP5_000349" "g.68131349T>G" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68363881T>G" "" "pathogenic" ""
"0000797348" "11" "90" "11" "68174159" "68174159" "subst" "0" "00000" "LRP5_000359" "g.68174159A>G" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68406691A>G" "" "pathogenic" ""
"0000797349" "11" "90" "11" "68154038" "68154038" "subst" "0" "00000" "LRP5_000354" "g.68154038G>T" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68386570G>T" "" "pathogenic" ""
"0000797350" "21" "90" "11" "68201228" "68201228" "subst" "4.11465E-6" "00000" "LRP5_000342" "g.68201228G>A" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68433760G>A" "" "pathogenic" ""
"0000797351" "11" "90" "11" "68157370" "68157370" "subst" "0" "00000" "LRP5_000356" "g.68157370G>A" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68389902G>A" "" "pathogenic" ""
"0000797352" "11" "90" "11" "68174241" "68174244" "dup" "0" "00000" "LRP5_000360" "g.68174241_68174244dup" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68406773_68406776dup" "" "pathogenic" ""
"0000797353" "21" "90" "11" "68177553" "68177553" "subst" "0" "00000" "LRP5_000364" "g.68177553C>T" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68410085C>T" "" "pathogenic" ""
"0000797354" "21" "90" "11" "68216314" "68216329" "dup" "0" "00000" "LRP5_000377" "g.68216314_68216329dup" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68448846_68448861dup" "" "pathogenic" ""
"0000797355" "21" "90" "11" "68154089" "68154089" "subst" "0" "00000" "LRP5_000069" "g.68154089G>A" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68386621G>A" "" "pathogenic" ""
"0000797356" "11" "90" "11" "68125132" "68125132" "subst" "0" "00000" "LRP5_000347" "g.68125132C>G" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68357664C>G" "" "pathogenic" ""
"0000797357" "11" "90" "11" "68115708" "68115708" "subst" "0" "00000" "LRP5_000346" "g.68115708A>C" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68348240A>C" "" "pathogenic" ""
"0000797358" "11" "90" "11" "68153891" "68153891" "subst" "8.12744E-6" "00000" "LRP5_000351" "g.68153891G>A" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68386423G>A" "" "pathogenic" ""
"0000797359" "11" "50" "11" "68192694" "68192694" "subst" "0.000579422" "00000" "LRP5_000123" "g.68192694A>G" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68425226A>G" "" "VUS" ""
"0000797360" "21" "90" "11" "68177545" "68177545" "subst" "0" "00000" "LRP5_000363" "g.68177545G>C" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68410077G>C" "" "pathogenic" ""
"0000797361" "11" "90" "11" "68131212" "68131212" "subst" "0" "00000" "LRP5_000348" "g.68131212C>A" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68363744C>A" "" "pathogenic" ""
"0000797362" "11" "90" "11" "68171167" "68171167" "subst" "8.13411E-6" "00000" "LRP5_000358" "g.68171167G>A" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68403699G>A" "" "pathogenic" ""
"0000797363" "11" "90" "11" "68157372" "68157372" "subst" "0" "00000" "LRP5_000357" "g.68157372G>T" "" "{PMID:Li 2018:30452590}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68389904G>T" "" "pathogenic" ""
"0000798384" "0" "10" "11" "68115513" "68115513" "subst" "0.000345425" "00000" "LRP5_000018" "g.68115513C>T" "1/56 patients; 2/183 controls" "{PMID:Qin-2005:15981244}" "" "" "" "Unknown" "" "" "0" "" "" "g.68348045C>T" "" "likely benign" ""
"0000798385" "0" "90" "11" "68115656" "68115656" "subst" "0" "00000" "LRP5_000045" "g.68115656C>T" "1/56 patients; 0/183 controls" "{PMID:Qin-2005:15981244}" "" "" "" "Unknown" "" "" "0" "" "" "g.68348188C>T" "" "pathogenic" ""
"0000798389" "0" "90" "11" "68154098" "68154098" "" "2.0384E-5" "00000" "LRP5_000014" "g.68154098C>T" "1/56 patients; 0/181 controls" "{PMID:Qin-2005:15981244}" "" "c.1330C>T" "" "Unknown" "" "" "0" "" "" "g.68386630C>T" "" "pathogenic" ""
"0000798391" "0" "90" "11" "68157500" "68157500" "" "4.06759E-6" "00000" "LRP5_000119" "g.68157500G>A" "1/56 patients; 0/193 controls" "{PMID:Qin-2005:15981244}" "" "c.1564G>A" "" "Unknown" "" "" "0" "" "" "g.68390032G>A" "" "pathogenic" ""
"0000798392" "0" "90" "11" "68170970" "68170970" "" "8.12282E-6" "00000" "LRP5_000120" "g.68170970C>T" "1/56 patients; 0/193 controls" "{PMID:Qin-2005:15981244}" "" "c.1604C>T" "" "Unknown" "" "" "0" "" "" "g.68403502C>T" "" "pathogenic" ""
"0000798393" "0" "90" "11" "68174040" "68174040" "" "0" "00000" "LRP5_000121" "g.68174040T>G" "1/56 patients; 0/193 controls" "{PMID:Qin-2005:15981244}" "" "c.1850T>G" "" "Unknown" "" "" "0" "" "" "g.68406572T>G" "" "pathogenic" ""
"0000811559" "0" "70" "11" "68080216" "68080217" "ins" "0" "00000" "LRP5_000379" "g.68080216_68080217insCTG" "" "{PMID:Wang 2019:31299183}" "" "LRP5 c.34_36insCTG, Leu20_Ala21ins Leu" "error in annotation" "Germline" "?" "" "0" "" "" "g.68312748_68312749insCTG" "" "likely pathogenic" ""
"0000811560" "0" "70" "11" "68153811" "68153811" "subst" "8.16466E-6" "00000" "LRP5_000383" "g.68153811G>A" "" "{PMID:Wang 2019:31299183}" "" "FZD4 1043G?>?A, Arg348Gln" "error in gene, FZD4 does not have 6 exons; this variant matches LRP5 nucleotide and protein" "Germline" "?" "" "0" "" "" "g.68386343G>A" "" "likely pathogenic" ""
"0000811561" "0" "70" "11" "68080216" "68080217" "ins" "0" "00000" "LRP5_000379" "g.68080216_68080217insCTG" "" "{PMID:Wang 2019:31299183}" "" "LRP5 c.34_36insCTG, Leu20_Ala21ins Leu" "" "Germline" "?" "" "0" "" "" "g.68312748_68312749insCTG" "" "likely pathogenic" ""
"0000811562" "0" "70" "11" "68216423" "68216423" "subst" "4.08991E-6" "00000" "LRP5_000299" "g.68216423C>T" "" "{PMID:Wang 2019:31299183}" "" "LRP5 4733C?>?T, Thr1578Met" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.68448955C>T" "" "likely pathogenic" ""
"0000811563" "0" "70" "11" "68153951" "68153951" "subst" "1.62562E-5" "00000" "LRP5_000293" "g.68153951C>T" "" "{PMID:Wang 2019:31299183}" "" "LRP5 1183C?>?T, Arg395Trp/R395W" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.68386483C>T" "" "likely pathogenic" ""
"0000811564" "0" "70" "11" "68204443" "68204443" "subst" "0" "00000" "LRP5_000298" "g.68204443G>C" "" "{PMID:Wang 2019:31299183}" "" "LRP5 4087G?>?C, Asp1363His" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.68436975G>C" "" "likely pathogenic" ""
"0000811565" "0" "70" "11" "68153883" "68153883" "subst" "0" "00000" "LRP5_000386" "g.68153883T>C" "" "{PMID:Wang 2019:31299183}" "" "LRP5 1115T?>?C, Ile372Thr" "" "Germline" "?" "" "0" "" "" "g.68386415T>C" "" "likely pathogenic" ""
"0000811566" "0" "70" "11" "68181219" "68181219" "subst" "1.62792E-5" "00000" "LRP5_000393" "g.68181219G>A" "" "{PMID:Wang 2019:31299183}" "" "LRP5 2566G?>?A, Asp856Asn" "" "Germline" "?" "" "0" "" "" "g.68413751G>A" "" "likely pathogenic" ""
"0000811567" "0" "70" "11" "68177609" "68177609" "subst" "0" "00000" "LRP5_000391" "g.68177609G>C" "" "{PMID:Wang 2019:31299183}" "" "LRP5 2318+1G�>�C, -" "" "Germline" "?" "" "0" "" "" "g.68410141G>C" "" "likely pathogenic" ""
"0000811568" "0" "70" "11" "68197163" "68197163" "del" "0" "00000" "LRP5_000399" "g.68197163del" "" "{PMID:Wang 2019:31299183}" "" "LRP5 3758del, Cys1253Leufs*186" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.68429695del" "" "likely pathogenic" ""
"0000811569" "0" "70" "11" "68179070" "68179070" "subst" "4.09497E-6" "00000" "LRP5_000392" "g.68179070G>A" "" "{PMID:Wang 2019:31299183}" "" "LRP5 2485G?>?A, Glu829Lys" "" "Germline" "?" "" "0" "" "" "g.68411602G>A" "" "likely pathogenic" ""
"0000811570" "0" "70" "11" "68192712" "68192712" "subst" "1.63606E-5" "00000" "LRP5_000396" "g.68192712T>C" "" "{PMID:Wang 2019:31299183}" "" "LRP5 3379T?>?C, Cys1127Arg" "error in annotation, this nucleotide change causes p.(Phe1127Leu) and not p.(Cys1127Arg)" "Germline/De novo (untested)" "?" "" "0" "" "" "g.68425244T>C" "" "likely pathogenic" ""
"0000811571" "0" "70" "11" "68154032" "68154032" "subst" "4.06607E-6" "00000" "LRP5_000257" "g.68154032G>A" "" "{PMID:Wang 2019:31299183}" "" "LRP5 1264G?>?A, Ala422Thr" "" "Germline" "?" "" "0" "" "" "g.68386564G>A" "" "likely pathogenic" ""
"0000811572" "0" "70" "11" "68201295" "68201295" "subst" "0.133814" "00000" "LRP5_000040" "g.68201295C>T" "" "{PMID:Wang 2019:31299183}" "" "LRP5 3989C?>?T, Ala1330Val" "" "Germline" "?" "" "0" "" "" "g.68433827C>T" "" "likely pathogenic" ""
"0000811573" "0" "70" "11" "68153859" "68153859" "subst" "0" "00000" "LRP5_000384" "g.68153859A>G" "" "{PMID:Wang 2019:31299183}" "" "LRP5 1091A?>?G, Asp364Gly" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.68386391A>G" "" "likely pathogenic" ""
"0000811574" "0" "70" "11" "68153870" "68153870" "subst" "0" "00000" "LRP5_000385" "g.68153870C>T" "" "{PMID:Wang 2019:31299183}" "" "LRP5 1102C?>?T, Gln368Ter" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.68386402C>T" "" "likely pathogenic" ""
"0000811575" "0" "70" "11" "68207386" "68207386" "subst" "0" "00000" "LRP5_000050" "g.68207386T>G" "" "{PMID:Wang 2019:31299183}" "" "LRP5 4488+2T�>�G, -" "" "Germline" "?" "" "0" "" "" "g.68439918T>G" "" "likely pathogenic" ""
"0000811576" "0" "70" "11" "68197170" "68197170" "subst" "1.21879E-5" "00000" "LRP5_000100" "g.68197170T>C" "" "{PMID:Wang 2019:31299183}" "" "LRP5 3763+2T�>�C, -" "" "Germline" "?" "" "0" "" "" "g.68429702T>C" "" "likely pathogenic" ""
"0000811654" "0" "70" "11" "68207386" "68207386" "subst" "0" "00000" "LRP5_000050" "g.68207386T>G" "" "{PMID:Chen 2019:31237656}" "" "g.62067196T>A" "" "Germline" "yes" "" "0" "" "" "g.68439918T>G" "" "likely pathogenic" ""
"0000811655" "0" "70" "11" "68207386" "68207386" "subst" "0" "00000" "LRP5_000050" "g.68207386T>G" "" "{PMID:Chen 2019:31237656}" "" "g.62067196T>A" "" "Germline" "yes" "" "0" "" "" "g.68439918T>G" "" "likely pathogenic" ""
"0000811656" "0" "70" "11" "68207386" "68207386" "subst" "0" "00000" "LRP5_000050" "g.68207386T>G" "" "{PMID:Chen 2019:31237656}" "" "g.62067196T>A" "" "Germline" "yes" "" "0" "" "" "g.68439918T>G" "" "likely pathogenic" ""
"0000811657" "11" "70" "11" "68207386" "68207386" "subst" "0" "00000" "LRP5_000050" "g.68207386T>G" "" "{PMID:Chen 2019:31237656}" "" "g.62067196T>A" "" "Germline" "yes" "" "0" "" "" "g.68439918T>G" "" "likely pathogenic" ""
"0000811658" "21" "70" "11" "68207386" "68207386" "subst" "0" "00000" "LRP5_000050" "g.68207386T>G" "" "{PMID:Chen 2019:31237656}" "" "g.62067196T>A" "" "Germline" "yes" "" "0" "" "" "g.68439918T>G" "" "likely pathogenic" ""
"0000811659" "21" "70" "11" "68207386" "68207386" "subst" "0" "00000" "LRP5_000050" "g.68207386T>G" "" "{PMID:Chen 2019:31237656}" "" "g.62067196T>A" "" "Germline" "yes" "" "0" "" "" "g.68439918T>G" "" "likely pathogenic" ""
"0000811660" "11" "70" "11" "68174132" "68174132" "subst" "0" "00000" "LRP5_000296" "g.68174132G>A" "" "{PMID:Chen 2019:31237656}" "" "4488+2T>G, splicing" "" "Germline" "yes" "" "0" "" "" "g.68406664G>A" "" "likely pathogenic" ""
"0000811661" "0" "70" "11" "68174132" "68174132" "subst" "0" "00000" "LRP5_000296" "g.68174132G>A" "" "{PMID:Chen 2019:31237656}" "" "4488+2T>G, splicing" "" "Germline" "yes" "" "0" "" "" "g.68406664G>A" "" "likely pathogenic" ""
"0000811662" "11" "70" "11" "68115527" "68115527" "subst" "3.251E-5" "00000" "LRP5_000380" "g.68115527G>A" "" "{PMID:Chen 2019:31237656}" "" "1942G>A, Val648Ile" "" "Germline" "yes" "" "0" "" "" "g.68348059G>A" "" "likely pathogenic" ""
"0000811663" "0" "70" "11" "68115527" "68115527" "subst" "3.251E-5" "00000" "LRP5_000380" "g.68115527G>A" "" "{PMID:Chen 2019:31237656}" "" "1942G>A, Val648Ile" "" "Germline" "yes" "" "0" "" "" "g.68348059G>A" "" "likely pathogenic" ""
"0000811664" "0" "70" "11" "68171098" "68171098" "subst" "4.06091E-6" "00000" "LRP5_000388" "g.68171098C>T" "" "{PMID:Chen 2019:31237656}" "" "304G>A, Val102Met" "" "Germline" "?" "" "0" "" "" "g.68403630C>T" "" "likely pathogenic" ""
"0000811665" "11" "70" "11" "68204404" "68204406" "del" "0" "00000" "LRP5_000401" "g.68204404_68204406del" "" "{PMID:Chen 2019:31237656}" "" "1732C>T, Arg578Trp" "" "Germline" "yes" "" "0" "" "" "g.68436936_68436938del" "" "likely pathogenic" ""
"0000811666" "0" "70" "11" "68204404" "68204406" "del" "0" "00000" "LRP5_000401" "g.68204404_68204406del" "" "{PMID:Chen 2019:31237656}" "" "1732C>T, Arg578Trp" "" "Germline" "yes" "" "0" "" "" "g.68436936_68436938del" "" "likely pathogenic" ""
"0000811667" "0" "70" "11" "68153961" "68153961" "subst" "2.03173E-5" "00000" "LRP5_000353" "g.68153961G>A" "" "{PMID:Chen 2019:31237656}" "" "4046_4048del, 1349-1350del" "" "Germline" "?" "" "0" "" "" "g.68386493G>A" "" "likely pathogenic" ""
"0000811668" "0" "70" "11" "68171099" "68171099" "subst" "0" "00000" "LRP5_000389" "g.68171099G>A" "" "{PMID:Chen 2019:31237656}" "" "1193G>A, Arg398His" "" "Germline" "?" "" "0" "" "" "g.68403631G>A" "" "likely pathogenic" ""
"0000811669" "0" "70" "11" "68154098" "68154098" "subst" "2.0384E-5" "00000" "LRP5_000014" "g.68154098C>T" "" "{PMID:Chen 2019:31237656}" "" "1733G>A, Arg578Gln" "" "Germline" "yes" "" "0" "" "" "g.68386630C>T" "" "likely pathogenic" ""
"0000811670" "21" "70" "11" "68201219" "68201219" "subst" "4.11029E-6" "00000" "LRP5_000400" "g.68201219T>C" "" "{PMID:Chen 2019:31237656}" "" "1330C>T, Arg444Cys" "" "Germline" "yes" "" "0" "" "" "g.68433751T>C" "" "likely pathogenic" ""
"0000811671" "0" "70" "11" "68201219" "68201219" "subst" "4.11029E-6" "00000" "LRP5_000400" "g.68201219T>C" "" "{PMID:Chen 2019:31237656}" "" "1330C>T, Arg444Cys" "" "Germline" "yes" "" "0" "" "" "g.68433751T>C" "" "likely pathogenic" ""
"0000811672" "11" "70" "11" "68153811" "68153811" "subst" "8.16466E-6" "00000" "LRP5_000383" "g.68153811G>A" "" "{PMID:Chen 2019:31237656}" "" "3913T>C, Cys1305Arg" "" "Germline" "yes" "" "0" "" "" "g.68386343G>A" "" "likely pathogenic" ""
"0000811673" "0" "70" "11" "68153811" "68153811" "subst" "8.16466E-6" "00000" "LRP5_000383" "g.68153811G>A" "" "{PMID:Chen 2019:31237656}" "" "3913T>C, Cys1305Arg" "" "Germline" "yes" "" "0" "" "" "g.68386343G>A" "" "likely pathogenic" ""
"0000811674" "21" "70" "11" "68204381" "68204381" "subst" "2.84453E-5" "00000" "LRP5_000099" "g.68204381G>A" "" "{PMID:Chen 2019:31237656}" "" "1043G>A, Arg348Gln" "" "Germline" "yes" "" "0" "" "" "g.68436913G>A" "" "likely pathogenic" ""
"0000811675" "0" "70" "11" "68204381" "68204381" "subst" "2.84453E-5" "00000" "LRP5_000099" "g.68204381G>A" "" "{PMID:Chen 2019:31237656}" "" "1043G>A, Arg348Gln" "" "Germline" "yes" "" "0" "" "" "g.68436913G>A" "" "likely pathogenic" ""
"0000811676" "0" "70" "11" "68204437" "68204437" "subst" "1.62525E-5" "00000" "LRP5_000041" "g.68204437T>G" "" "{PMID:Chen 2019:31237656}" "" "4025G>A, Arg1342Gln" "" "Germline" "?" "" "0" "" "" "g.68436969T>G" "" "likely pathogenic" ""
"0000811677" "0" "70" "11" "68192661" "68192661" "subst" "2.44507E-5" "00000" "LRP5_000394" "g.68192661G>A" "" "{PMID:Chen 2019:31237656}" "" "4081T>G, Cys1361Gly" "" "Germline" "?" "" "0" "" "" "g.68425193G>A" "" "likely pathogenic" ""
"0000811678" "0" "70" "11" "68192712" "68192712" "subst" "1.63606E-5" "00000" "LRP5_000396" "g.68192712T>C" "" "{PMID:Chen 2019:31237656}" "" "3328G>A, Gly1110Ser" "" "Germline" "?" "" "0" "" "" "g.68425244T>C" "" "likely pathogenic" ""
"0000811679" "11" "70" "11" "68174186" "68174186" "subst" "0.000243712" "00000" "LRP5_000390" "g.68174186G>A" "" "{PMID:Chen 2019:31237656}" "" "3379T>C, Phe1127Leu" "" "Germline" "yes" "" "0" "" "" "g.68406718G>A" "" "likely pathogenic" ""
"0000811680" "0" "70" "11" "68174186" "68174186" "subst" "0.000243712" "00000" "LRP5_000390" "g.68174186G>A" "" "{PMID:Chen 2019:31237656}" "" "3379T>C, Phe1127Leu" "" "Germline" "yes" "" "0" "" "" "g.68406718G>A" "" "likely pathogenic" ""
"0000811774" "0" "70" "11" "68171167" "68171167" "subst" "8.13411E-6" "00000" "LRP5_000358" "g.68171167G>A" "" "{PMID:Tian 2019:31169861}" "" "c.1801G>A; p.G601Ra" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.68403699G>A" "" "likely pathogenic" ""
"0000811775" "0" "70" "11" "68192694" "68192694" "subst" "0.000579422" "00000" "LRP5_000123" "g.68192694A>G" "" "{PMID:Tian 2019:31169861}" "" "c.3361A>G; p.N1121Da" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.68425226A>G" "" "likely pathogenic" ""
"0000811776" "0" "70" "11" "68201283" "68201283" "subst" "4.98571E-5" "00000" "LRP5_000370" "g.68201283G>A" "" "{PMID:Tian 2019:31169861}" "" "c.G3977A;p.R1326Ha" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.68433815G>A" "" "likely pathogenic" ""
"0000811777" "0" "70" "11" "68115489" "68115489" "subst" "0.0192666" "00000" "LRP5_000031" "g.68115489A>G" "" "{PMID:Tian 2019:31169861}" "" "c.266A>G;p.Q89R" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.68348021A>G" "" "likely pathogenic" ""
"0000811778" "0" "70" "11" "68183840" "68183840" "subst" "1.62542E-5" "00000" "LRP5_000367" "g.68183840C>T" "" "{PMID:Tian 2019:31169861}" "" "c.2872C>T;p.R958Wa" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.68416372C>T" "" "likely pathogenic" ""
"0000811779" "0" "70" "11" "68174159" "68174159" "subst" "0" "00000" "LRP5_000359" "g.68174159A>G" "" "{PMID:Tian 2019:31169861}" "" "c.1969A>G;p.R657Ga" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.68406691A>G" "" "likely pathogenic" ""
"0000811780" "0" "70" "11" "68133075" "68133075" "subst" "0" "00000" "LRP5_000382" "g.68133075C>A" "" "{PMID:Tian 2019:31169861}" "" "c.920C>A;p.S307Ya" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.68365607C>A" "" "likely pathogenic" ""
"0000811781" "0" "70" "11" "68153961" "68153961" "subst" "2.03173E-5" "00000" "LRP5_000353" "g.68153961G>A" "" "{PMID:Tian 2019:31169861}" "" "c.1193G>A;p.R398Ha" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.68386493G>A" "" "likely pathogenic" ""
"0000811782" "0" "70" "11" "68115513" "68115513" "subst" "0.000345425" "00000" "LRP5_000018" "g.68115513C>T" "" "{PMID:Tian 2019:31169861}" "" "c.290C>T;p.A97Va" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.68348045C>T" "" "likely pathogenic" ""
"0000811783" "0" "70" "11" "68133048" "68133048" "subst" "0" "00000" "LRP5_000381" "g.68133048G>A" "" "{PMID:Tian 2019:31169861}" "" "c.893G>A;p.R298Ha" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.68365580G>A" "" "likely pathogenic" ""
"0000811784" "0" "70" "11" "68115513" "68115513" "subst" "0.000345425" "00000" "LRP5_000018" "g.68115513C>T" "" "{PMID:Tian 2019:31169861}" "" "c.C290T;p.A97Va" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.68348045C>T" "" "likely pathogenic" ""
"0000811794" "3" "70" "11" "68205911" "68205911" "subst" "0" "00000" "LRP5_000268" "g.68205911C>G" "" "{PMID:Hull 2019:31077665}" "" "4112-3C>G" "homozygous" "Germline" "?" "" "0" "" "" "g.68438443C>G" "" "likely pathogenic" ""
"0000811795" "3" "70" "11" "68205911" "68205911" "subst" "0" "00000" "LRP5_000268" "g.68205911C>G" "" "{PMID:Hull 2019:31077665}" "" "4112-3C>G" "homozygous" "Germline" "?" "" "0" "" "" "g.68438443C>G" "" "likely pathogenic" ""
"0000811796" "21" "70" "11" "68201220" "68201220" "subst" "0" "00000" "LRP5_000267" "g.68201220G>A" "" "{PMID:Hull 2019:31077665}" "" "c.3914G>A, p.(Cys1305Tyr)" "heterozygous" "Germline" "?" "" "0" "" "" "g.68433752G>A" "" "likely pathogenic" ""
"0000811797" "10" "70" "11" "68177544" "68177544" "subst" "0" "00000" "LRP5_000265" "g.68177544C>T" "" "{PMID:Hull 2019:31077665}" "" "c.2254C>T, p.(Arg752Trp)" "heterozygous" "Germline" "?" "" "0" "" "" "g.68410076C>T" "" "likely pathogenic" ""
"0000812514" "0" "70" "11" "68174186" "68174186" "subst" "0.000243712" "00000" "LRP5_000390" "g.68174186G>A" "" "{PMID:Wang 2019:31106028}" "" "c.1996G>A, p.(Asp666Asn)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.68406718G>A" "" "likely pathogenic" ""
"0000812576" "0" "70" "11" "68192710" "68192710" "subst" "0" "00000" "LRP5_000395" "g.68192710T>C" "" "{PMID:Wang 2019:31106028}" "" "c.3377T>C , p.(Leu1126Pro)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.68425242T>C" "" "likely pathogenic" ""
"0000812577" "0" "70" "11" "68213934" "68213934" "subst" "0" "00000" "LRP5_000402" "g.68213934G>T" "" "{PMID:Wang 2019:31106028}" "" "c.4519G>T , p.(Asp1507Tyr)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.68446466G>T" "" "likely pathogenic" ""
"0000812609" "0" "70" "11" "68171099" "68171099" "subst" "0" "00000" "LRP5_000389" "g.68171099G>A" "" "{PMID:Wang 2019:31106028}" "" "c.1733G>A, p.(Arg578Gln)" "heterozygous" "Germline" "?" "" "0" "" "" "g.68403631G>A" "" "likely pathogenic" ""
"0000812633" "0" "90" "11" "68197162" "68197162" "del" "0" "00000" "LRP5_000398" "g.68197162del" "" "{PMID:Wang 2019:31106028}" "" "c.3757del, p.(Cys1253Valfs*186)" "heterozygous" "Germline" "?" "" "0" "" "" "g.68429694del" "" "pathogenic" ""
"0000812646" "0" "70" "11" "68204437" "68204437" "subst" "1.62525E-5" "00000" "LRP5_000041" "g.68204437T>G" "" "{PMID:Wang 2019:31106028}" "" "c.4081T>G, p.(Cys1361Gly)" "heterozygous" "Germline" "?" "" "0" "" "" "g.68436969T>G" "" "likely pathogenic" ""
"0000812654" "0" "70" "11" "68201219" "68201219" "subst" "4.11029E-6" "00000" "LRP5_000400" "g.68201219T>C" "" "{PMID:Wang 2019:31106028}" "" "c.3913T>C, p.(Cys1305Arg)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.68433751T>C" "" "likely pathogenic" ""
"0000812655" "0" "70" "11" "68154098" "68154098" "subst" "2.0384E-5" "00000" "LRP5_000014" "g.68154098C>T" "" "{PMID:Wang 2019:31106028}" "" "c.1330C>T, p.(Arg444Cys)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.68386630C>T" "" "likely pathogenic" ""
"0000812676" "0" "70" "11" "68193599" "68193599" "subst" "0" "00000" "LRP5_000397" "g.68193599G>A" "" "{PMID:Wang 2019:31106028}" "" "c.3581G>A, p.(Arg1194His)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.68426131G>A" "" "likely pathogenic" ""
"0000812679" "0" "70" "11" "68204437" "68204437" "subst" "1.62525E-5" "00000" "LRP5_000041" "g.68204437T>G" "" "{PMID:Wang 2019:31106028}" "" "c.4081T>G, p.(Cys1361Gly)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.68436969T>G" "" "likely pathogenic" ""
"0000812685" "0" "70" "11" "68174186" "68174186" "subst" "0.000243712" "00000" "LRP5_000390" "g.68174186G>A" "" "{PMID:Wang 2019:31106028}" "" "c.1996G>A, p.(Asp666Asn)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.68406718G>A" "" "likely pathogenic" ""
"0000812687" "0" "70" "11" "68115527" "68115527" "subst" "3.251E-5" "00000" "LRP5_000380" "g.68115527G>A" "" "{PMID:Wang 2019:31106028}" "" "c.304G>A, p.(Val102Met)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.68348059G>A" "" "likely pathogenic" ""
"0000812723" "0" "70" "11" "68181219" "68181219" "subst" "1.62792E-5" "00000" "LRP5_000393" "g.68181219G>A" "" "{PMID:Wang 2019:31106028}" "" "c.2566G>A, p.(Asp856Asn)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.68413751G>A" "" "likely pathogenic" ""
"0000812759" "0" "70" "11" "68191036" "68191036" "subst" "0.00246075" "00000" "LRP5_000117" "g.68191036G>A" "" "{PMID:Wang 2019:31106028}" "" "c.3107G>A, p.(Arg1036Gln)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.68423568G>A" "" "likely pathogenic" ""
"0000812762" "0" "70" "11" "68153961" "68153961" "subst" "2.03173E-5" "00000" "LRP5_000353" "g.68153961G>A" "" "{PMID:Wang 2019:31106028}" "" "c.1193G>A, p.(Arg398His)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.68386493G>A" "" "likely pathogenic" ""
"0000812794" "0" "70" "11" "68216509" "68216509" "subst" "0" "00000" "LRP5_000403" "g.68216509C>A" "" "{PMID:Wang 2019:31106028}" "" "c.4819C>A, p.(Pro1607Thr)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.68449041C>A" "" "likely pathogenic" ""
"0000812795" "0" "70" "11" "68181231" "68181231" "subst" "0" "00000" "LRP5_000339" "g.68181231T>C" "" "{PMID:Wang 2019:31106028}" "" "c.2578T>C, p.(Trp860Arg)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.68413763T>C" "" "likely pathogenic" ""
"0000812799" "0" "90" "11" "68204461" "68204462" "del" "4.06742E-6" "00000" "LRP5_000098" "g.68204461_68204462del" "" "{PMID:Wang 2019:31106028}" "" "c.4105_4106del, p.(Met1369Valfs*2)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.68436993_68436994del" "" "pathogenic" ""
"0000812816" "0" "70" "11" "68153870" "68153870" "subst" "0" "00000" "LRP5_000385" "g.68153870C>T" "" "{PMID:Wang 2019:31106028}" "" "c.1102C>T, p.(Gln368*)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.68386402C>T" "" "likely pathogenic" ""
"0000812819" "0" "90" "11" "68153918" "68153918" "subst" "0" "00000" "LRP5_000387" "g.68153918G>T" "" "{PMID:Wang 2019:31106028}" "" "c.1150G>T, p.(Glu384*)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.68386450G>T" "" "pathogenic" ""
"0000812833" "0" "70" "11" "68179070" "68179070" "subst" "4.09497E-6" "00000" "LRP5_000392" "g.68179070G>A" "" "{PMID:Wang 2019:31106028}" "" "c.2485G>A, p.(Glu829Lys)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.68411602G>A" "" "likely pathogenic" ""
"0000814885" "0" "70" "11" "68157518" "68157518" "subst" "4.07844E-6" "00000" "LRP5_000295" "g.68157518G>A" "" "{PMID:Chen 2020:31987760}" "" "1582G>A, Glu528Lys" "" "Germline" "yes" "" "0" "" "" "g.68390050G>A" "" "likely pathogenic" ""
"0000814886" "0" "70" "11" "68204437" "68204437" "subst" "1.62525E-5" "00000" "LRP5_000041" "g.68204437T>G" "" "{PMID:Chen 2020:31987760}" "" "4081T>G, Cys1361Gly" "" "Germline" "yes" "" "0" "" "" "g.68436969T>G" "" "likely pathogenic" ""
"0000814887" "0" "70" "11" "68153870" "68153870" "subst" "0" "00000" "LRP5_000385" "g.68153870C>T" "" "{PMID:Chen 2020:31987760}" "" "1102C>T, Gln368Ter" "" "Germline" "yes" "" "0" "" "" "g.68386402C>T" "" "likely pathogenic" ""
"0000814888" "0" "70" "11" "68181211" "68181211" "subst" "0" "00000" "LRP5_000405" "g.68181211A>G" "" "{PMID:Chen 2020:31987760}" "" "2558A>G, Gln853Arg" "" "Germline" "yes" "" "0" "" "" "g.68413743A>G" "" "likely pathogenic" ""
"0000814889" "0" "70" "11" "68154032" "68154032" "subst" "4.06607E-6" "00000" "LRP5_000257" "g.68154032G>A" "" "{PMID:Chen 2020:31987760}" "" "1264G>A, Ala422Thr" "" "Germline" "yes" "" "0" "" "" "g.68386564G>A" "" "likely pathogenic" ""
"0000814890" "0" "70" "11" "68207386" "68207386" "subst" "0" "00000" "LRP5_000050" "g.68207386T>G" "" "{PMID:Chen 2020:31987760}" "" "4488+2T>G, -" "" "Germline" "yes" "" "0" "" "" "g.68439918T>G" "" "likely pathogenic" ""
"0000814891" "0" "70" "11" "68080274" "68080274" "subst" "0" "00000" "LRP5_000404" "g.68080274G>T" "" "{PMID:Chen 2020:31987760}" "" "91+1G>T, -" "" "Germline" "yes" "" "0" "" "" "g.68312806G>T" "" "likely pathogenic" ""
"0000814892" "0" "70" "11" "68174186" "68174186" "subst" "0.000243712" "00000" "LRP5_000390" "g.68174186G>A" "" "{PMID:Chen 2020:31987760}" "" "1996G>A, Asp666Asn" "" "Germline" "yes" "" "0" "" "" "g.68406718G>A" "" "likely pathogenic" ""
"0000818234" "10" "70" "11" "68206007" "68206007" "" "0" "00000" "LRP5_000413" "g.68206007G>A" "" "{PMID:Rao 2017:28494495}" "" "c.4205G>A" "" "Germline" "" "" "0" "" "" "g.68438539G>A" "" "likely pathogenic" ""
"0000818235" "10" "70" "11" "68206007" "68206007" "" "0" "00000" "LRP5_000413" "g.68206007G>A" "" "{PMID:Rao 2017:28494495}" "" "c.4205G>A" "" "Germline" "" "" "0" "" "" "g.68438539G>A" "" "likely pathogenic" ""
"0000818236" "20" "70" "11" "68177527" "68177527" "" "0" "00000" "LRP5_000414" "g.68177527G>C" "" "{PMID:Rao 2017:28494495}" "" "c.2237G>C" "" "Germline" "" "" "0" "" "" "g.68410059G>C" "" "likely pathogenic" ""
"0000818237" "20" "70" "11" "68181271" "68181271" "" "0" "00000" "LRP5_000415" "g.68181271A>T" "" "{PMID:Rao 2017:28494495}" "" "c.2618A>T" "" "Germline" "" "" "0" "" "" "g.68413803A>T" "" "likely pathogenic" ""
"0000818238" "10" "90" "11" "68154152" "68154152" "" "0" "00000" "LRP5_000416" "g.68154152C>T" "" "{PMID:Rao 2017:28494495}" "" "c.1384C>T" "" "Germline" "" "" "0" "" "" "g.68386684C>T" "" "pathogenic" ""
"0000818239" "20" "90" "11" "68181470" "68181481" "" "0" "00000" "LRP5_000417" "g.68181470_68181481del" "" "{PMID:Rao 2017:28494495}" "" "c.2817_2827+1del12" "" "Germline" "" "" "0" "" "" "g.68414002_68414013del" "" "pathogenic" ""
"0000818561" "11" "50" "11" "68171167" "68171167" "subst" "8.13411E-6" "00000" "LRP5_000358" "g.68171167G>A" "" "{PMID:Wang 2021:32238352}" "" "c.1801G>A, p.G601R" "retrospective study, duplicates plausible" "Germline" "yes" "" "0" "" "" "g.68403699G>A" "" "VUS" "ACMG"
"0000818562" "0" "50" "11" "68171167" "68171167" "subst" "8.13411E-6" "00000" "LRP5_000358" "g.68171167G>A" "" "{PMID:Wang 2021:32238352}" "" "c.1801G>A, p.G601R" "retrospective study, duplicates plausible" "Germline" "yes" "" "0" "" "" "g.68403699G>A" "" "VUS" "ACMG"
"0000818581" "21" "50" "11" "68204383" "68204383" "subst" "0" "00000" "LRP5_000371" "g.68204383T>G" "" "{PMID:Wang 2021:32238352}" "" "c.2284T>G, p.C762G" "different transcript, NM_001291902.1(LRP5):c.2284T>G, p.(Cys762Gly), retrospective study, duplicates plausible" "Germline" "yes" "" "0" "" "" "g.68436915T>G" "" "VUS" "ACMG"
"0000818582" "0" "50" "11" "68204383" "68204383" "subst" "0" "00000" "LRP5_000371" "g.68204383T>G" "" "{PMID:Wang 2021:32238352}" "" "c.2284T>G, p.C762G" "different transcript, NM_001291902.1(LRP5):c.2284T>G, p.(Cys762Gly), retrospective study, duplicates plausible" "Germline" "yes" "" "0" "" "" "g.68436915T>G" "" "VUS" "ACMG"
"0000818964" "0" "70" "11" "68178903" "68179089" "del" "0" "00000" "LRP5_000406" "g.(68177609_68178903)_(68179089_68181156)del" "" "{PMID:Ellingsford 2018:29074561}" "" "chr11:68178900–68179093" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000821291" "0" "70" "11" "68154033" "68154033" "subst" "2.43966E-5" "00000" "LRP5_000320" "g.68154033C>T" "" "{PMID:Turro 2020:32581362}" "" "LRP5 c.1265C>T, p.Ala422Val" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.68386565C>T" "" "likely pathogenic" ""
"0000821292" "0" "90" "11" "68207386" "68207386" "subst" "0" "00000" "LRP5_000050" "g.68207386T>G" "" "{PMID:Turro 2020:32581362}" "" "LRP5 c.4488+2T>G, p.?" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.68439918T>G" "" "pathogenic" ""
"0000821571" "0" "70" "11" "68192575" "68192575" "subst" "0" "00000" "LRP5_000407" "g.68192575T>G" "" "{PMID:Turro 2020:32581362}" "" "LRP5 c.3242T>G, p.Leu1081Arg" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.68425107T>G" "" "likely pathogenic" ""
"0000823621" "21" "70" "11" "68179032" "68179032" "subst" "0" "00000" "LRP5_000255" "g.68179032A>C" "" "{PMID:Li 2020:32884843}" "" "LRP5 c.2447A>C, p.Q816P" "heterozygous" "Germline" "yes" "" "0" "" "" "g.68411564A>C" "" "likely pathogenic" "ACMG"
"0000823622" "21" "50" "11" "68179016" "68179016" "subst" "2.03338E-5" "00000" "LRP5_000408" "g.68179016A>G" "" "{PMID:Li 2020:32884843}" "" "LRP5 c.2431A>G, p.I811V" "heterozygous" "Germline" "yes" "" "0" "" "" "g.68411548A>G" "" "VUS" "ACMG"
"0000823623" "11" "90" "11" "68157370" "68157370" "subst" "0" "00000" "LRP5_000356" "g.68157370G>A" "" "{PMID:Li 2020:32884843}" "" "LRP5 c.1434G>A, p.W478X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.68389902G>A" "" "pathogenic" "ACMG"
"0000826055" "0" "70" "11" "68181481" "68181481" "subst" "0" "00000" "LRP5_000266" "g.68181481G>A" "" "{PMID:Liu-2020:33090715}" "" "c.2827+1G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" ""
"0000828909" "0" "50" "11" "68206099" "68206099" "subst" "0.00020438" "00000" "LRP5_000332" "g.68206099G>A" "" "{PMID:Chen 2021:43360855}" "" "LRP5 c.[4297G>A];[4297=], V1: c.4297G>A, (p.Val1433Met)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.68438631G>A" "" "VUS" "ACMG"
"0000828924" "0" "70" "11" "68131402" "68131402" "subst" "0" "00000" "LRP5_000409" "g.68131402C>G" "" "{PMID:Chen 2021:43360855}" "" "LRP5 c.[874C>G];[874=], V1: c.874C>G, (p.Gln292Glu)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.68363934C>G" "" "likely pathogenic" "ACMG"
"0000830834" "0" "90" "11" "68191036" "68191036" "subst" "0.00246075" "00006" "LRP5_000117" "g.68191036G>A" "" "{PMID:Rauch 2014:25086671}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.68423568G>A" "" "pathogenic" ""
"0000844556" "21" "90" "11" "68153944" "68153944" "subst" "4.06359E-6" "00006" "LRP5_000410" "g.68153944C>A" "" "{PMID:Wang 2022:35244470}" "" "" "" "Germline" "" "" "0" "" "" "g.68386476C>A" "" "pathogenic (dominant)" ""
"0000844557" "21" "90" "11" "68179020" "68179020" "subst" "0" "00006" "LRP5_000411" "g.68179020A>C" "" "{PMID:Wang 2022:35244470}" "" "" "" "Germline" "" "" "0" "" "" "g.68411552A>C" "" "pathogenic (dominant)" ""
"0000853137" "0" "30" "11" "68181182" "68181182" "subst" "0.000192199" "01943" "LRP5_000420" "g.68181182C>T" "" "" "" "LRP5(NM_001291902.1):c.786C>T (p.D262=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000853138" "0" "30" "11" "68181431" "68181431" "subst" "2.51517E-5" "01943" "LRP5_000421" "g.68181431C>T" "" "" "" "LRP5(NM_001291902.1):c.1035C>T (p.C345=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000853140" "0" "50" "11" "68181480" "68181480" "subst" "6.35286E-5" "01943" "LRP5_000422" "g.68181480C>T" "" "" "" "LRP5(NM_001291902.1):c.1084C>T (p.P362S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000853141" "0" "30" "11" "68183878" "68183878" "subst" "1.21837E-5" "01943" "LRP5_000423" "g.68183878C>T" "" "" "" "LRP5(NM_001291902.1):c.1167C>T (p.I389=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000853142" "0" "30" "11" "68204388" "68204388" "subst" "4.87567E-5" "02330" "LRP5_000426" "g.68204388G>A" "" "" "" "LRP5(NM_001291902.2):c.2289G>A (p.A763=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000853143" "0" "50" "11" "68206003" "68206003" "subst" "0" "02325" "LRP5_000427" "g.68206003G>A" "" "" "" "LRP5(NM_002335.4):c.4201G>A (p.G1401S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000853144" "0" "30" "11" "68206095" "68206095" "subst" "5.72452E-5" "01943" "LRP5_000428" "g.68206095G>A" "" "" "" "LRP5(NM_001291902.1):c.2550G>A (p.P850=), LRP5(NM_001291902.2):c.2550G>A (p.P850=), LRP5(NM_002335.4):c.4293G>A (p.P1431=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000853145" "0" "30" "11" "68207228" "68207228" "subst" "0.000253012" "02330" "LRP5_000429" "g.68207228C>T" "" "" "" "LRP5(NM_001291902.2):c.2606-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000862670" "0" "10" "11" "68131198" "68131198" "subst" "0.00170075" "02329" "LRP5_000418" "g.68131198C>T" "" "" "" "LRP5(NM_002335.4):c.687-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000862672" "0" "30" "11" "68174236" "68174236" "subst" "0.000109701" "02330" "LRP5_000419" "g.68174236T>C" "" "" "" "LRP5(NM_001291902.2):c.303T>C (p.F101=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000862674" "0" "30" "11" "68201119" "68201119" "subst" "1.22723E-5" "02329" "LRP5_000424" "g.68201119C>T" "" "" "" "LRP5(NM_002335.4):c.3813C>T (p.I1271=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000862675" "0" "50" "11" "68201120" "68201120" "subst" "0" "01943" "LRP5_000425" "g.68201120G>A" "" "" "" "LRP5(NM_001291902.1):c.2071G>A (p.D691N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000862677" "0" "50" "11" "68213912" "68213912" "subst" "0" "02327" "LRP5_000430" "g.68213912C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000862678" "0" "30" "11" "68216472" "68216472" "subst" "2.56834E-5" "02330" "LRP5_000431" "g.68216472C>T" "" "" "" "LRP5(NM_001291902.2):c.3039C>T (p.P1013=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000872779" "21" "50" "11" "68131241" "68131241" "subst" "0.00015992" "00000" "LRP5_000280" "g.68131241C>T" "" "{PMID:Chan 2016:27639845}" "" "c.713C>T:Thr238Met" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000877892" "3" "70" "11" "68171014" "68171014" "subst" "4.06085E-6" "00000" "LRP5_000116" "g.68171014G>A" "0/280 ethnically matched control alleles; 0/120 white control chromosomes" "{PMID:Downey 2006:16929062}" "" "LRP5 c1648G>A, G550R" "homozygous" "Germline" "yes" "" "0" "" "" "g.68403546G>A" "" "likely pathogenic" ""
"0000877893" "3" "70" "11" "68171014" "68171014" "subst" "4.06085E-6" "00000" "LRP5_000116" "g.68171014G>A" "0/280 ethnically matched control alleles; 0/120 white control chromosomes" "{PMID:Downey 2006:16929062}" "" "LRP5 c1648G>A, G550R" "homozygous" "Germline" "yes" "" "0" "" "" "g.68403546G>A" "" "likely pathogenic" ""
"0000877894" "3" "70" "11" "68171014" "68171014" "subst" "4.06085E-6" "00000" "LRP5_000116" "g.68171014G>A" "0/280 ethnically matched control alleles; 0/120 white control chromosomes" "{PMID:Downey 2006:16929062}" "" "LRP5 c1648G>A, G550R" "homozygous" "Germline" "yes" "" "0" "" "" "g.68403546G>A" "" "likely pathogenic" ""
"0000877902" "11" "90" "11" "68125237" "68125237" "subst" "0" "00000" "LRP5_000273" "g.68125237A>C" "" "{PMID:Maltese 2017:28145787}" "" "LRP5 c.608A>C, p.(Asp203Ala)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.68357769A>C" "" "pathogenic" ""
"0000877903" "0" "90" "11" "68125237" "68125237" "subst" "0" "00000" "LRP5_000273" "g.68125237A>C" "" "{PMID:Maltese 2017:28145787}" "" "LRP5 c.608A>C, p.(Asp203Ala)" "heterozygous" "Unknown" "yes" "" "0" "" "" "g.68357769A>C" "" "pathogenic" ""
"0000877904" "3" "90" "11" "68153903" "68153903" "subst" "0" "00000" "LRP5_000274" "g.68153903G>A" "" "{PMID:Maltese 2017:28145787}" "" "LRP5 c.1135G>A, p.(Asp379Asn)" "homozygous" "Germline" "yes" "" "0" "" "" "g.68386435G>A" "" "pathogenic" ""
"0000877905" "0" "90" "11" "68153903" "68153903" "subst" "0" "00000" "LRP5_000274" "g.68153903G>A" "" "{PMID:Maltese 2017:28145787}" "" "LRP5 c.1135G>A, p.(Asp379Asn)" "heterozygous" "Unknown" "yes" "" "0" "" "" "g.68386435G>A" "" "pathogenic" ""
"0000877906" "0" "90" "11" "68153903" "68153903" "subst" "0" "00000" "LRP5_000274" "g.68153903G>A" "" "{PMID:Maltese 2017:28145787}" "" "LRP5 c.1135G>A, p.(Asp379Asn)" "heterozygous" "Unknown" "yes" "" "0" "" "" "g.68386435G>A" "" "pathogenic" ""
"0000877907" "21" "90" "11" "68174023" "68174023" "dup" "0" "00000" "LRP5_000315" "g.68174023dup" "" "{PMID:Maltese 2017:28145787}" "" "LRP5 c.1833dupG, p.(Cys612Valfs*25)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.68406555dup" "" "pathogenic" ""
"0000877917" "11" "70" "11" "68177524" "68177524" "subst" "0.000959131" "00000" "LRP5_000186" "g.68177524C>T" "" "{PMID:Pefkianaki 2016:27486893}" "" "LRP5 c.2234 C>T, p.A745V" "heterozygous" "Germline" "yes" "" "0" "" "" "g.68410056C>T" "" "likely pathogenic" ""
"0000877918" "0" "70" "11" "68177524" "68177524" "subst" "0.000959131" "00000" "LRP5_000186" "g.68177524C>T" "" "{PMID:Pefkianaki 2016:27486893}" "" "LRP5 c.2234 C>T, p.A745V" "heterozygous" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.68410056C>T" "" "likely pathogenic" ""
"0000877919" "1" "70" "11" "68153909" "68153909" "subst" "4.06273E-6" "00000" "LRP5_000260" "g.68153909G>A" "" "{PMID:Munier 2019:30768230}" "" "LRP5 p.[D381N]" "heterozygous" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.68386441G>A" "" "likely pathogenic" ""
"0000877920" "2" "70" "11" "68201295" "68201295" "subst" "0.133814" "00000" "LRP5_000040" "g.68201295C>T" "" "{PMID:Munier 2019:30768230}" "" "LRP5 p.[A1330V;D1356N]" "heterozygous" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.68433827C>T" "" "likely pathogenic" ""
"0000877921" "2" "70" "11" "68204422" "68204422" "subst" "4.06276E-6" "00000" "LRP5_000432" "g.68204422G>A" "" "{PMID:Munier 2019:30768230}" "" "LRP5 p.[A1330V;D1356N]" "heterozygous" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.68436954G>A" "" "likely pathogenic" ""
"0000878637" "0" "30" "11" "68174182" "68174182" "subst" "1.62468E-5" "00006" "LRP5_000433" "g.68174182C>T" "" "{PMID:Qin-2005:15981244}" "" "" "2/56 patients; 1/193 controls" "Germline" "" "" "0" "" "" "g.68406714C>T" "" "likely benign" ""
"0000878638" "0" "90" "11" "68178977" "68178977" "subst" "0" "00006" "LRP5_000122" "g.68178977A>G" "1/56 patients; 0/193 controls" "{PMID:Qin-2005:15981244}" "" "" "" "Germline" "" "" "0" "" "" "g.68411509A>G" "" "pathogenic" ""
"0000878639" "0" "30" "11" "68177480" "68177480" "subst" "0" "00006" "LRP5_000434" "g.68177480G>A" "1/56 patients" "{PMID:Qin-2005:15981244}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000878640" "0" "90" "11" "68192694" "68192694" "subst" "0.000579422" "00006" "LRP5_000123" "g.68192694A>G" "1/56 patients; 0/193 controls" "{PMID:Qin-2005:15981244}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000878641" "0" "30" "11" "68192787" "68192787" "subst" "3.35487E-5" "00006" "LRP5_000435" "g.68192787C>T" "1/56 patients; 0/193 controls" "{PMID:Qin-2005:15981244}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000878642" "0" "30" "11" "68207394" "68207394" "subst" "0.000409165" "00006" "LRP5_000436" "g.68207394G>A" "2/56 patients" "{PMID:Qin-2005:15981244}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000878643" "0" "10" "11" "68216309" "68216309" "subst" "0.000202635" "00006" "LRP5_000239" "g.68216309C>T" "4/56 patients; 4/193 controls" "{PMID:Qin-2005:15981244}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" ""
"0000878644" "0" "30" "11" "68216478" "68216478" "subst" "0.0152115" "00006" "LRP5_000055" "g.68216478C>T" "1/56 patients; 0/193 controls" "{PMID:Qin-2005:15981244}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000880167" "0" "50" "11" "68171032" "68171032" "subst" "8.12137E-6" "04391" "LRP5_000437" "g.68171032G>C" "2/251444 chromosomes" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.68403564G>C" "{CV:860653}" "VUS" "ACMG"
"0000880303" "0" "50" "11" "68177524" "68177524" "subst" "0.000959131" "04391" "LRP5_000186" "g.68177524C>T" "254/282476 chromosomes" "" "" "" "" "Unknown" "?" "rs148550774" "" "" "" "g.68410056C>T" "{CV:279844}" "VUS" "ACMG"
"0000880343" "0" "50" "11" "68213980" "68213980" "subst" "0.000320924" "04391" "LRP5_000290" "g.68213980C>T" "84/282676 chromosomes" "" "" "" "" "Unknown" "?" "rs200624778" "" "" "" "g.68446512C>T" "{CV:195673}" "VUS" "ACMG"
"0000890128" "0" "10" "11" "68115319" "68115319" "subst" "0.000665163" "02329" "LRP5_000438" "g.68115319G>A" "" "" "" "LRP5(NM_002335.4):c.96G>A (p.S32=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000890130" "0" "30" "11" "68115526" "68115526" "subst" "0.000272265" "02329" "LRP5_000439" "g.68115526C>T" "" "" "" "LRP5(NM_002335.4):c.303C>T (p.N101=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890131" "0" "30" "11" "68115598" "68115598" "subst" "0.00025605" "02329" "LRP5_000440" "g.68115598G>T" "" "" "" "LRP5(NM_002335.4):c.375G>T (p.T125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890132" "0" "50" "11" "68115711" "68115711" "subst" "0" "01804" "LRP5_000441" "g.68115711G>C" "" "" "" "LRP5(NM_002335.2):c.488G>C (p.(Gly163Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000890133" "0" "50" "11" "68133068" "68133068" "subst" "1.22403E-5" "02327" "LRP5_000442" "g.68133068G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000890134" "0" "30" "11" "68153915" "68153915" "subst" "0" "02329" "LRP5_000443" "g.68153915C>T" "" "" "" "LRP5(NM_002335.4):c.1147C>T (p.L383=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890135" "0" "30" "11" "68153980" "68153980" "subst" "4.87634E-5" "02326" "LRP5_000444" "g.68153980G>A" "" "" "" "LRP5(NM_002335.4):c.1212G>A (p.G404=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890141" "0" "30" "11" "68181248" "68181248" "subst" "0.000130141" "02326" "LRP5_000445" "g.68181248G>T" "" "" "" "LRP5(NM_002335.4):c.2595G>T (p.L865=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890142" "0" "30" "11" "68183797" "68183797" "subst" "0.000440256" "02326" "LRP5_000446" "g.68183797G>A" "" "" "" "LRP5(NM_002335.4):c.2829G>A (p.P943=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890143" "0" "70" "11" "68190956" "68190956" "subst" "0" "01804" "LRP5_000447" "g.68190956G>C" "" "" "" "LRP5(NM_002335.2):c.3028-1G>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000890144" "0" "50" "11" "68193556" "68193556" "subst" "4.07349E-6" "02327" "LRP5_000340" "g.68193556G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000890147" "0" "50" "11" "68205997" "68205997" "subst" "0" "02329" "LRP5_000448" "g.68205997G>T" "" "" "" "LRP5(NM_001291902.2):c.2452G>T (p.V818F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000890150" "0" "50" "11" "68216333" "68216333" "subst" "0.000229123" "01804" "LRP5_000378" "g.68216333G>T" "" "" "" "LRP5(NM_001291902.1):c.2900G>T (p.(Cys967Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000896573" "1" "50" "11" "68206099" "68206099" "subst" "0.00020438" "00000" "LRP5_000332" "g.68206099G>A" "Taiwan Biobank: 0; GnomAD_exome_East: 0.00273; GnomAD_All: 0.000208" "{PMID:Chen 2021:33608557}" "" "LRP5 c.[4297G>A];[4297=]; p.(Val1433Met)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.68438631G>A" "" "VUS" ""
"0000896744" "1" "70" "11" "68131402" "68131402" "subst" "0" "00000" "LRP5_000409" "g.68131402C>G" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "LRP5 c.[874C>G];[874=]; p.(Gln292Glu)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.68363934C>G" "" "likely pathogenic" ""
"0000913689" "0" "30" "11" "68080277" "68080277" "subst" "0" "02329" "LRP5_000449" "g.68080277G>A" "" "" "" "LRP5(NM_002335.4):c.91+4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000913693" "0" "50" "11" "68153907" "68153907" "subst" "0" "01804" "LRP5_000450" "g.68153907A>G" "" "" "" "LRP5(NM_002335.2):c.1139A>G (p.(Tyr380Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000913696" "0" "50" "11" "68193454" "68193454" "subst" "3.28564E-5" "01804" "LRP5_000451" "g.68193454C>T" "" "" "" "LRP5(NM_002335.2):c.3436C>T (p.(Arg1146Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000922746" "0" "50" "11" "68206070" "68206070" "subst" "6.52837E-5" "03779" "LRP5_000306" "g.68206070C>T" "" "" "" "" "" "Unknown" "" "rs748143518" "0" "" "" "" "" "VUS" ""
"0000925491" "0" "30" "11" "68154161" "68154161" "subst" "3.69822E-5" "01804" "LRP5_000452" "g.68154161G>A" "" "" "" "LRP5(NM_001291902.1):c.-373G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000925492" "0" "30" "11" "68157526" "68157526" "subst" "0.000690947" "02326" "LRP5_000453" "g.68157526G>C" "" "" "" "LRP5(NM_001291902.2):c.-354+3346G>C, LRP5(NM_002335.4):c.1584+6G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000925495" "0" "50" "11" "68216299" "68216299" "subst" "8.32494E-6" "01804" "LRP5_000115" "g.68216299G>A" "" "" "" "LRP5(NM_001291902.1):c.2866G>A (p.(Ala956Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000927711" "0" "50" "11" "68174100" "68174100" "subst" "8.12381E-6" "03779" "LRP5_000454" "g.68174100T>C" "" "" "" "" "" "Unknown" "" "rs1045994595" "0" "" "" "" "" "VUS" ""
"0000929963" "0" "30" "11" "68080198" "68080198" "subst" "0.00842538" "02326" "LRP5_000455" "g.68080198C>A" "" "" "" "LRP5(NM_002335.4):c.16C>A (p.P6T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000929964" "0" "50" "11" "68125219" "68125219" "subst" "0" "02327" "LRP5_000456" "g.68125219C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000929965" "0" "70" "11" "68131388" "68131388" "subst" "0" "02329" "LRP5_000457" "g.68131388T>C" "" "" "" "LRP5(NM_002335.4):c.860T>C (p.L287P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000929966" "0" "30" "11" "68154067" "68154067" "subst" "8.141E-5" "02329" "LRP5_000458" "g.68154067C>T" "" "" "" "LRP5(NM_002335.4):c.1299C>T (p.T433=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000929967" "0" "30" "11" "68170875" "68170875" "subst" "0" "02329" "LRP5_000459" "g.68170875C>T" "" "" "" "LRP5(NM_002335.4):c.1585-76C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000929968" "0" "30" "11" "68171439" "68171439" "subst" "0" "02329" "LRP5_000460" "g.68171439G>A" "" "" "" "LRP5(NM_002335.4):c.1801+272G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000929969" "0" "50" "11" "68174078" "68174078" "subst" "1.21878E-5" "02329" "LRP5_000461" "g.68174078G>A" "" "" "" "LRP5(NM_002335.4):c.1888G>A (p.G630S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000929970" "0" "30" "11" "68193268" "68193268" "subst" "0" "02329" "LRP5_000462" "g.68193268G>A" "" "" "" "LRP5(NM_002335.4):c.3428-178G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000929971" "0" "50" "11" "68204392" "68204392" "subst" "2.84382E-5" "02329" "LRP5_000463" "g.68204392G>A" "" "" "" "LRP5(NM_002335.4):c.4036G>A (p.G1346S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000929972" "0" "50" "11" "68206087" "68206087" "subst" "0" "02329" "LRP5_000464" "g.68206087G>T" "" "" "" "LRP5(NM_002335.4):c.4285G>T (p.G1429W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000933703" "0" "90" "11" "68131252" "68131252" "subst" "0" "03779" "LRP5_000065" "g.68131252G>A" "" "" "" "" "" "Unknown" "" "rs121908670" "0" "" "" "" "" "pathogenic" ""
"0000949775" "0" "30" "11" "68115607" "68115607" "subst" "0.00028855" "02330" "LRP5_000465" "g.68115607G>A" "" "" "" "LRP5(NM_002335.4):c.384G>A (p.E128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000949776" "0" "50" "11" "68125236" "68125236" "subst" "0" "02327" "LRP5_000092" "g.68125236G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000949777" "0" "10" "11" "68125328" "68125328" "subst" "0.00059573" "02329" "LRP5_000466" "g.68125328G>A" "" "" "" "LRP5(NM_001291902.2):c.-1080+13G>A, LRP5(NM_002335.4):c.686+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000949778" "0" "50" "11" "68154008" "68154008" "subst" "4.06471E-6" "02329" "LRP5_000467" "g.68154008G>A" "" "" "" "LRP5(NM_002335.4):c.1240G>A (p.E414K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000949782" "0" "50" "11" "68192676" "68192676" "subst" "0" "02325" "LRP5_000468" "g.68192676G>A" "" "" "" "LRP5(NM_002335.4):c.3343G>A (p.V1115M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000949783" "0" "30" "11" "68206095" "68206095" "subst" "5.72452E-5" "02329" "LRP5_000428" "g.68206095G>A" "" "" "" "LRP5(NM_001291902.1):c.2550G>A (p.P850=), LRP5(NM_001291902.2):c.2550G>A (p.P850=), LRP5(NM_002335.4):c.4293G>A (p.P1431=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000949784" "0" "50" "11" "68206105" "68206105" "subst" "0" "02329" "LRP5_000469" "g.68206105C>T" "" "" "" "LRP5(NM_002335.4):c.4303C>T (p.L1435F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000949785" "0" "30" "11" "68206119" "68206119" "subst" "8.18525E-6" "02327" "LRP5_000470" "g.68206119C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000949786" "0" "50" "11" "68207349" "68207349" "subst" "0" "02327" "LRP5_000471" "g.68207349A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000953901" "0" "70" "11" "68201139" "68201139" "subst" "0" "00006" "LRP5_000472" "g.68201139G>A" "" "{PMID:Moon 2021:35052368}" "" "" "" "Germline" "" "" "0" "" "" "g.68433671G>A" "" "likely pathogenic" ""
"0000954051" "11" "90" "11" "68125236" "68125236" "subst" "0" "00006" "LRP5_000092" "g.68125236G>A" "" "{PMID:Moon 2021:35052368}" "" "" "" "Germline" "" "" "0" "" "" "g.68357768G>A" "" "pathogenic" ""
"0000966534" "0" "30" "11" "68133017" "68133017" "subst" "0.00083666" "02329" "LRP5_000473" "g.68133017C>T" "" "" "" "LRP5(NM_002335.4):c.884-22C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000966535" "0" "30" "11" "68154078" "68154078" "subst" "5.7019E-5" "02330" "LRP5_000474" "g.68154078C>T" "" "" "" "LRP5(NM_002335.4):c.1310C>T (p.T437M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000966536" "0" "10" "11" "68154160" "68154160" "subst" "0.0013107" "02329" "LRP5_000475" "g.68154160C>T" "" "" "" "LRP5(NM_002335.4):c.1392C>T (p.I464=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000966537" "0" "30" "11" "68174525" "68174525" "subst" "0" "02329" "LRP5_000476" "g.68174525T>C" "" "" "" "LRP5(NM_002335.4):c.2091+244T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000966539" "0" "30" "11" "68181494" "68181494" "subst" "0" "02329" "LRP5_000477" "g.68181494G>C" "" "" "" "LRP5(NM_002335.4):c.2827+14G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000966540" "0" "30" "11" "68184231" "68184231" "subst" "0" "02329" "LRP5_000478" "g.68184231G>T" "" "" "" "LRP5(NM_002335.4):c.3027+236G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000966541" "0" "50" "11" "68191128" "68191128" "subst" "0.000110263" "02325" "LRP5_000479" "g.68191128G>A" "" "" "" "LRP5(NM_002335.4):c.3199G>A (p.D1067N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000966543" "0" "50" "11" "68201225" "68201225" "subst" "0.000106957" "02329" "LRP5_000480" "g.68201225C>T" "" "" "" "LRP5(NM_002335.4):c.3919C>T (p.R1307W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000966544" "0" "50" "11" "68216300" "68216300" "subst" "8.32238E-5" "02329" "LRP5_000481" "g.68216300C>T" "" "" "" "LRP5(NM_002335.4):c.4610C>T (p.A1537V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000979806" "0" "50" "11" "68080234" "68080242" "dup" "0" "01804" "LRP5_000482" "g.68080234_68080242dup" "" "" "" "LRP5(NM_002335.4):c.52_60dup (p.(Leu18_Leu20dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000979809" "0" "50" "11" "68125204" "68125204" "subst" "8.13385E-6" "01804" "LRP5_000483" "g.68125204C>G" "" "" "" "LRP5(NM_002335.4):c.575C>G (p.(Ser192Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000979810" "0" "30" "11" "68133160" "68133160" "subst" "4.55721E-5" "01804" "LRP5_000484" "g.68133160G>A" "" "" "" "LRP5(NM_002335.4):c.1005G>A (p.(Thr335=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000979812" "0" "70" "11" "68153903" "68153903" "subst" "0" "02329" "LRP5_000274" "g.68153903G>A" "" "" "" "LRP5(NM_002335.4):c.1135G>A (p.D379N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000979814" "0" "50" "11" "68154032" "68154032" "subst" "2.03303E-5" "02327" "LRP5_000485" "g.68154032G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000979815" "0" "50" "11" "68157500" "68157500" "subst" "4.06759E-6" "01804" "LRP5_000119" "g.68157500G>A" "" "" "" "LRP5(NM_002335.4):c.1564G>A (p.(Ala522Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000979816" "0" "30" "11" "68157526" "68157526" "subst" "0.000690947" "02330" "LRP5_000453" "g.68157526G>C" "" "" "" "LRP5(NM_001291902.2):c.-354+3346G>C, LRP5(NM_002335.4):c.1584+6G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000979817" "0" "30" "11" "68157574" "68157574" "subst" "0" "02329" "LRP5_000486" "g.68157574G>A" "" "" "" "LRP5(NM_002335.4):c.1584+54G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000979818" "0" "30" "11" "68170853" "68170853" "subst" "0" "02329" "LRP5_000487" "g.68170853G>A" "" "" "" "LRP5(NM_002335.4):c.1585-98G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000979820" "0" "50" "11" "68177463" "68177463" "subst" "3.24902E-5" "01804" "LRP5_000488" "g.68177463G>A" "" "" "" "LRP5(NM_002335.4):c.2173G>A (p.(Val725Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000979821" "0" "30" "11" "68181377" "68181377" "subst" "6.1266E-5" "01804" "LRP5_000489" "g.68181377C>G" "" "" "" "LRP5(NM_002335.4):c.2724C>G (p.(His908Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000979822" "0" "50" "11" "68181383" "68181383" "subst" "4.0869E-6" "01804" "LRP5_000490" "g.68181383C>A" "" "" "" "LRP5(NM_002335.4):c.2730C>A (p.(Asn910Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000979826" "0" "50" "11" "68201073" "68201073" "subst" "8.20924E-6" "01804" "LRP5_000491" "g.68201073C>T" "" "" "" "LRP5(NM_002335.4):c.3767C>T (p.(Pro1256Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000979827" "0" "50" "11" "68201177" "68201177" "subst" "4.08991E-6" "01804" "LRP5_000492" "g.68201177G>A" "" "" "" "LRP5(NM_002335.4):c.3871G>A (p.(Asp1291Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000979828" "0" "30" "11" "68205997" "68205997" "subst" "0.000223423" "01804" "LRP5_000493" "g.68205997G>A" "" "" "" "LRP5(NM_002335.4):c.4195G>A (p.(Val1399Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000979829" "0" "50" "11" "68206028" "68206028" "subst" "1.62632E-5" "01804" "LRP5_000494" "g.68206028G>A" "" "" "" "LRP5(NM_002335.4):c.4226G>A (p.(Arg1409His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000979830" "0" "30" "11" "68212869" "68212869" "subst" "0" "01804" "LRP5_000495" "g.68212869G>A" "" "" "" "LRP5(NM_002335.4):c.4489-1035G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000999403" "0" "30" "11" "68115412" "68115412" "subst" "0" "02329" "LRP5_000496" "g.68115412G>A" "" "" "" "LRP5(NM_002335.4):c.189G>A (p.E63=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000999404" "0" "50" "11" "68115467" "68115467" "subst" "4.06309E-6" "01804" "LRP5_000497" "g.68115467G>A" "" "" "" "LRP5(NM_002335.2):c.244G>A (p.(Val82Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000999405" "0" "50" "11" "68131274" "68131274" "subst" "1.63159E-5" "01804" "LRP5_000498" "g.68131274C>T" "" "" "" "LRP5(NM_002335.2):c.746C>T (p.(Thr249Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000999406" "0" "50" "11" "68131324" "68131324" "subst" "3.25871E-5" "01804" "LRP5_000499" "g.68131324C>T" "" "" "" "LRP5(NM_002335.2):c.796C>T (p.(Arg266Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000999407" "0" "50" "11" "68153951" "68153951" "subst" "1.62562E-5" "01804" "LRP5_000293" "g.68153951C>T" "" "" "" "LRP5(NM_002335.2):c.1183C>T (p.(Arg395Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000999410" "0" "50" "11" "68179030" "68179030" "subst" "0" "01804" "LRP5_000500" "g.68179030C>A" "" "" "" "LRP5(NM_002335.2):c.2445C>A (p.(Asp815Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000999411" "0" "50" "11" "68181222" "68181222" "subst" "0" "01804" "LRP5_000501" "g.68181222T>C" "" "" "" "LRP5(NM_002335.2):c.2569T>C (p.(Tyr857His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000999413" "0" "30" "11" "68183903" "68183903" "subst" "0" "01804" "LRP5_000502" "g.68183903G>A" "" "" "" "LRP5(NM_002335.2):c.2935G>A (p.(Val979Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000999414" "0" "90" "11" "68191051" "68191051" "subst" "8.12203E-6" "02329" "LRP5_000368" "g.68191051C>T" "" "" "" "LRP5(NM_002335.4):c.3122C>T (p.T1041M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000999417" "0" "30" "11" "68192684" "68192684" "subst" "4.07764E-6" "02329" "LRP5_000503" "g.68192684G>C" "" "" "" "LRP5(NM_002335.4):c.3351G>C (p.L1117=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000999418" "0" "50" "11" "68205964" "68205964" "subst" "3.24952E-5" "01804" "LRP5_000504" "g.68205964G>A" "" "" "" "LRP5(NM_002335.2):c.4162G>A (p.(Gly1388Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000999419" "0" "30" "11" "68206068" "68206068" "subst" "0" "01804" "LRP5_000505" "g.68206068C>G" "" "" "" "LRP5(NM_002335.2):c.4266C>G (p.(Phe1422Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001014870" "0" "30" "11" "68125328" "68125328" "subst" "0.00059573" "02330" "LRP5_000466" "g.68125328G>A" "" "" "" "LRP5(NM_001291902.2):c.-1080+13G>A, LRP5(NM_002335.4):c.686+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001014871" "0" "50" "11" "68154132" "68154132" "subst" "0" "02327" "LRP5_000114" "g.68154132C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001014874" "0" "50" "11" "68191125" "68191125" "subst" "2.44858E-5" "02329" "LRP5_000506" "g.68191125C>T" "" "" "" "LRP5(NM_002335.4):c.3196C>T (p.R1066C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001014875" "0" "50" "11" "68201226" "68201226" "subst" "1.64552E-5" "02325" "LRP5_000507" "g.68201226G>A" "" "" "" "LRP5(NM_002335.4):c.3920G>A (p.R1307Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001014876" "0" "50" "11" "68206060" "68206060" "subst" "1.63054E-5" "02327" "LRP5_000508" "g.68206060G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001026064" "0" "30" "11" "68115352" "68115352" "subst" "8.19551E-6" "02330" "LRP5_000509" "g.68115352A>T" "" "" "" "LRP5(NM_002335.4):c.129A>T (p.V43=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001026065" "0" "30" "11" "68131356" "68131356" "subst" "0" "02327" "LRP5_000510" "g.68131356T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001026066" "0" "30" "11" "68131377" "68131377" "subst" "0" "02327" "LRP5_000511" "g.68131377C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001026067" "0" "50" "11" "68131400" "68131400" "subst" "1.23843E-5" "02327" "LRP5_000512" "g.68131400G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001026068" "0" "70" "11" "68153810" "68153810" "subst" "4.08503E-6" "02329" "LRP5_000109" "g.68153810C>T" "" "" "" "LRP5(NM_002335.4):c.1042C>T (p.R348W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0001026069" "0" "50" "11" "68157339" "68157339" "subst" "0" "02329" "LRP5_000513" "g.68157339T>G" "" "" "" "LRP5(NM_002335.4):c.1413-10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001026071" "0" "50" "11" "68178963" "68178963" "subst" "0" "02329" "LRP5_000514" "g.68178963G>A" "" "" "" "LRP5(NM_002335.4):c.2378G>A (p.G793E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001026074" "0" "30" "11" "68206095" "68206095" "subst" "5.72452E-5" "02330" "LRP5_000428" "g.68206095G>A" "" "" "" "LRP5(NM_001291902.1):c.2550G>A (p.P850=), LRP5(NM_001291902.2):c.2550G>A (p.P850=), LRP5(NM_002335.4):c.4293G>A (p.P1431=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001038685" "0" "50" "11" "68080225" "68080226" "ins" "0" "01804" "LRP5_000515" "g.68080225_68080226insCGC" "" "" "" "LRP5(NM_002335.4):c.43_44insCGC (p.(Leu14_Leu15insPro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001038686" "0" "30" "11" "68080431" "68080431" "subst" "0" "01804" "LRP5_000516" "g.68080431G>A" "" "" "" "LRP5(NM_002335.4):c.91+158G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001038687" "0" "50" "11" "68115647" "68115647" "subst" "8.16387E-6" "01804" "LRP5_000517" "g.68115647C>T" "" "" "" "LRP5(NM_002335.4):c.424C>T (p.(Arg142Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001038689" "0" "30" "11" "68133157" "68133157" "subst" "0" "01804" "LRP5_000518" "g.68133157G>A" "" "" "" "LRP5(NM_002335.4):c.1002G>A (p.(Arg334=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001038690" "0" "50" "11" "68171046" "68171046" "subst" "3.24857E-5" "01804" "LRP5_000519" "g.68171046G>T" "" "" "" "LRP5(NM_002335.4):c.1680G>T (p.(Trp560Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001038691" "0" "30" "11" "68171766" "68171766" "subst" "0" "01804" "LRP5_000520" "g.68171766G>A" "" "" "" "LRP5(NM_001291902.2):c.-61G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001038692" "0" "50" "11" "68174247" "68174247" "subst" "0" "01804" "LRP5_000521" "g.68174247A>G" "" "" "" "LRP5(NM_002335.4):c.2057A>G (p.(Asn686Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001038693" "0" "30" "11" "68180850" "68180850" "subst" "0" "01804" "LRP5_000522" "g.68180850G>T" "" "" "" "LRP5(NM_002335.4):c.2504-307G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001038694" "0" "50" "11" "68181424" "68181424" "subst" "0" "01804" "LRP5_000523" "g.68181424A>T" "" "" "" "LRP5(NM_002335.4):c.2771A>T (p.(His924Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001038695" "0" "30" "11" "68183617" "68183617" "subst" "0" "01804" "LRP5_000524" "g.68183617G>A" "" "" "" "LRP5(NM_002335.4):c.2828-179G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001038696" "0" "50" "11" "68191023" "68191023" "subst" "8.1213E-6" "01804" "LRP5_000525" "g.68191023G>A" "" "" "" "LRP5(NM_002335.4):c.3094G>A (p.(Asp1032Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001038697" "0" "50" "11" "68191126" "68191126" "subst" "0" "01804" "LRP5_000526" "g.68191126G>A" "" "" "" "LRP5(NM_002335.4):c.3197G>A (p.(Arg1066His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001038699" "0" "50" "11" "68197061" "68197061" "subst" "3.2501E-5" "02329" "LRP5_000341" "g.68197061G>A" "" "" "" "LRP5(NM_002335.4):c.3656G>A (p.R1219H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001038701" "0" "50" "11" "68206049" "68206049" "subst" "4.89033E-5" "01804" "LRP5_000527" "g.68206049C>T" "" "" "" "LRP5(NM_002335.4):c.4247C>T (p.(Ala1416Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001038702" "0" "50" "11" "68207287" "68207287" "subst" "1.68303E-5" "01804" "LRP5_000528" "g.68207287T>C" "" "" "" "LRP5(NM_002335.4):c.4391T>C (p.(Met1464Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001038703" "0" "50" "11" "68207362" "68207362" "subst" "6.98461E-5" "01804" "LRP5_000529" "g.68207362C>T" "" "" "" "LRP5(NM_002335.4):c.4466C>T (p.(Thr1489Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001038704" "0" "50" "11" "68216504" "68216504" "subst" "9.13417E-6" "02329" "LRP5_000530" "g.68216504C>T" "" "" "" "LRP5(NM_002335.4):c.4814C>T (p.P1605L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001048331" "3" "90" "11" "68193444" "68193444" "del" "0" "00006" "chr11_008606" "g.68193444del" "" "{PMID:Tuysuz 2022:34902613}" "" "" "ACMG PM1, PM2, PM5, PP2, PP3" "Germline" "" "" "0" "" "" "g.68425976del" "" "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 LRP5
## Count = 626
"{{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}}"
"0000173881" "00025617" "90" "29" "0" "29" "0" "c.29G>A" "r.(?)" "p.(Trp10*)" "1"
"0000173882" "00025617" "90" "29" "0" "29" "0" "c.29G>A" "r.(?)" "p.(Trp10*)" "1"
"0000173883" "00025617" "90" "724" "0" "724" "0" "c.724G>A" "r.(?)" "p.(Ala242Thr)" "4"
"0000173884" "00025617" "90" "724" "0" "724" "0" "c.724G>A" "r.(?)" "p.(Ala242Thr)" "4"
"0000173885" "00025617" "90" "724" "0" "724" "0" "c.724G>A" "r.(?)" "p.(Ala242Thr)" "4"
"0000173886" "00025617" "90" "724" "0" "724" "0" "c.724G>A" "r.(?)" "p.(Ala242Thr)" "4"
"0000173887" "00025617" "90" "640" "0" "640" "0" "c.640G>A" "r.(?)" "p.(Ala214Thr)" "3"
"0000173888" "00025617" "90" "641" "0" "641" "0" "c.641C>T" "r.(?)" "p.(Ala214Val)" "3"
"0000173889" "00025617" "90" "758" "0" "758" "0" "c.758C>T" "r.(?)" "p.(Thr253Ile)" "4"
"0000173890" "00025617" "90" "758" "0" "758" "0" "c.758C>T" "r.(?)" "p.(Thr253Ile)" "4"
"0000173891" "00025617" "90" "1282" "0" "1282" "0" "c.1282C>T" "r.(?)" "p.(Arg428*)" "6"
"0000173892" "00025617" "90" "1282" "0" "1282" "0" "c.1282C>T" "r.(?)" "p.(Arg428*)" "6"
"0000173893" "00025617" "90" "4488" "2" "4488" "2" "c.4488+2T>G" "r.spl?" "p.(?)" "21i"
"0000173894" "00025617" "90" "4119" "0" "4119" "0" "c.4119dup" "r.(?)" "p.(Lys1374Glnfs*176)" "20"
"0000173901" "00025617" "90" "1468" "0" "1468" "0" "c.1468del" "r.(?)" "p.(Asp490Metfs*40)" "7"
"0000173902" "00025617" "90" "1468" "0" "1468" "0" "c.1468del" "r.(?)" "p.(Asp490Metfs*40)" "7"
"0000173906" "00025617" "90" "1330" "0" "1330" "0" "c.1330C>T" "r.(?)" "p.(Arg444Cys)" "6"
"0000173907" "00025617" "90" "1828" "0" "1828" "0" "c.1828G>A" "r.(?)" "p.(Gly610Arg)" "9"
"0000173908" "00025617" "90" "804" "0" "813" "0" "c.804_813del" "r.(?)" "p.(Gly269Argfs*4)" "4"
"0000173909" "00025617" "90" "2151" "0" "2151" "0" "c.2151dup" "r.(?)" "p.(Asp718*)" "10"
"0000173910" "00025617" "90" "2151" "0" "2151" "0" "c.2151dup" "r.(?)" "p.(Asp718*)" "10"
"0000173911" "00025617" "90" "2557" "0" "2557" "0" "c.2557C>T" "r.(?)" "p.(Gln853*)" "12"
"0000173912" "00025617" "90" "2557" "0" "2557" "0" "c.2557C>T" "r.(?)" "p.(Gln853*)" "12"
"0000173913" "00025617" "90" "3804" "0" "3804" "0" "c.3804del" "r.(?)" "p.(Glu1270Argfs*169)" "18"
"0000173914" "00025617" "90" "3804" "0" "3804" "0" "c.3804del" "r.(?)" "p.(Glu1270Argfs*169)" "18"
"0000173915" "00025617" "90" "1481" "0" "1481" "0" "c.1481G>A" "r.(?)" "p.(Arg494Gln)" "7"
"0000173917" "00025617" "90" "1708" "0" "1708" "0" "c.1708C>T" "r.(?)" "p.(Arg570Trp)" "8"
"0000173918" "00025617" "90" "1708" "0" "1708" "0" "c.1708C>T" "r.(?)" "p.(Arg570Trp)" "8"
"0000173919" "00025617" "90" "1999" "0" "1999" "0" "c.1999G>A" "r.(?)" "p.(Val667Met)" "9"
"0000173920" "00025617" "90" "1999" "0" "1999" "0" "c.1999G>A" "r.(?)" "p.(Val667Met)" "9"
"0000173921" "00025617" "90" "1453" "0" "1453" "0" "c.1453G>T" "r.(?)" "p.(Glu485*)" "7"
"0000173922" "00025617" "90" "4600" "0" "4600" "0" "c.4600C>T" "r.(?)" "p.(Arg1534*)" "23"
"0000173923" "00025617" "90" "331" "0" "331" "0" "c.331G>T" "r.(?)" "p.(Asp111Tyr)" "2"
"0000173924" "00025617" "90" "2305" "0" "2305" "0" "c.2305del" "r.(?)" "p.(Asp769Ilefs*29)" "10"
"0000173925" "00025617" "90" "511" "0" "511" "0" "c.511G>T" "r.(?)" "p.(Gly171Cys)" "3"
"0000173926" "00025617" "90" "511" "0" "511" "0" "c.511G>T" "r.(?)" "p.(Gly171Cys)" "3"
"0000173927" "00025617" "90" "511" "0" "511" "0" "c.511G>C" "r.(?)" "p.(Gly171Arg)" "3"
"0000173928" "00025617" "70" "1647" "0" "1647" "0" "c.1647T>C" "r.(?)" "p.(=)" "8"
"0000173929" "00025617" "70" "2220" "0" "2220" "0" "c.2220C>T" "r.(?)" "p.(=)" "10"
"0000173930" "00025617" "70" "3989" "0" "3989" "0" "c.3989C>T" "r.(?)" "p.(Ala1330Val)" "18"
"0000173931" "00025617" "70" "3764" "-30" "3764" "-30" "c.3764-30G>A" "r.(?)" "p.(=)" "17i"
"0000173932" "00025617" "70" "2220" "0" "2220" "0" "c.2220C>T" "p.(=)" "p.(=)" "10"
"0000173933" "00025617" "70" "3989" "0" "3989" "0" "c.3989C>T" "p.(Ala1330Val)" "p.(A1330V)" "18"
"0000173934" "00025617" "70" "3764" "-30" "3764" "-30" "c.3764-30G>A" "r.(?)" "p.(=)" "17i"
"0000173935" "00025617" "70" "4488" "52" "4488" "52" "c.4488+52C>A" "r.(?)" "p.(=)" "21i"
"0000173936" "00025617" "70" "3989" "0" "3989" "0" "c.3989C>T" "r.(?)" "p.(Ala1330Val)" "18"
"0000173937" "00025617" "70" "1932" "0" "1932" "0" "c.1932G>A" "r.(?)" "p.(=)" "9"
"0000173938" "00025617" "70" "1647" "0" "1647" "0" "c.1647T>C" "r.(?)" "p.(=)" "8"
"0000173939" "00025617" "70" "3989" "0" "3989" "0" "c.3989C>T" "r.(?)" "p.(Ala1330Val)" "18"
"0000173940" "00025617" "70" "91" "10563" "91" "10563" "c.91+10563A>T" "r.(=)" "p.(=)" "1i"
"0000173941" "00025617" "70" "1584" "5994" "1584" "5994" "c.1584+5994T>C" "r.(=)" "p.(=)" "7i"
"0000173942" "00025617" "70" "4348" "60" "4348" "60" "c.4348+60T>C" "r.(=)" "p.(=)" "20i"
"0000173943" "00025617" "70" "1999" "0" "1999" "0" "c.1999G>A" "r.(?)" "p.(Val667Met)" "9"
"0000173944" "00025617" "70" "1932" "0" "1932" "0" "c.1932G>A" "r.(?)" "p.(=)" "9"
"0000173945" "00025617" "70" "3989" "0" "3989" "0" "c.3989C>T" "r.(?)" "p.(Ala1330Val)" "18"
"0000173946" "00025617" "70" "2047" "0" "2047" "0" "c.2047G>A" "r.(?)" "p.(Asp683Asn)" "9"
"0000173947" "00025617" "10" "3989" "0" "3989" "0" "c.3989C>T" "r.(?)" "p.(Ala1330Val)" "18"
"0000173948" "00025617" "10" "3989" "0" "3989" "0" "c.3989C>T" "r.(?)" "p.(Ala1330Val)" "18"
"0000173949" "00025617" "10" "266" "0" "266" "0" "c.266A>G" "r.(?)" "p.(Gln89Arg)" "2"
"0000173950" "00025617" "10" "266" "0" "266" "0" "c.266A>G" "r.(?)" "p.(Gln89Arg)" "2"
"0000173951" "00025617" "10" "2200" "0" "2200" "0" "c.2200C>T" "r.(?)" "p.(Asn740=)" "10"
"0000173952" "00025617" "10" "2318" "6" "2318" "6" "c.2318+6T>C" "r.(?)" "p.(=)" "10i"
"0000173953" "00025617" "10" "266" "0" "266" "0" "c.266A>G" "r.(?)" "p.(Gln89Arg)" "2"
"0000173954" "00025617" "10" "3357" "0" "3357" "0" "c.3357G>A" "r.(?)" "p.(=)" "15"
"0000173955" "00025617" "10" "3764" "-30" "3764" "-30" "c.3764-30G>A" "r.(=)" "p.(=)" "17i"
"0000173956" "00025617" "10" "3989" "0" "3989" "0" "c.3989C>T" "r.(?)" "p.(Ala1330Val)" "18"
"0000173957" "00025617" "10" "4089" "0" "4089" "0" "c.4089C>T" "r.(?)" "p.(=)" "19"
"0000173958" "00025617" "10" "1602" "0" "1602" "0" "c.1602G>A" "r.(?)" "p.(=)" "8"
"0000173959" "00025617" "10" "1647" "0" "1647" "0" "c.1647T>C" "r.(?)" "p.(=)" "8"
"0000173960" "00025617" "10" "1932" "0" "1932" "0" "c.1932G>A" "r.(?)" "p.(=)" "9"
"0000173961" "00025617" "10" "1999" "0" "1999" "0" "c.1999G>A" "r.(?)" "p.(Val667Met)" "9"
"0000173962" "00025617" "10" "2200" "0" "2200" "0" "c.2200C>T" "r.(?)" "p.(Asn740=)" "10"
"0000173963" "00025617" "10" "266" "0" "266" "0" "c.266A>G" "r.(?)" "p.(Gln89Arg)" "2"
"0000173964" "00025617" "10" "3297" "0" "3297" "0" "c.3297C>T" "r.(?)" "p.(=)" "15"
"0000173965" "00025617" "10" "333" "0" "333" "0" "c.333C>T" "r.(?)" "p.(=)" "2"
"0000173966" "00025617" "10" "3357" "0" "3357" "0" "c.3357G>A" "r.(?)" "p.(=)" "15"
"0000173967" "00025617" "10" "3989" "0" "3989" "0" "c.3989C>T" "r.(?)" "p.(Ala1330Val)" "18"
"0000173968" "00025617" "10" "4788" "0" "4788" "0" "c.4788C>T" "r.(?)" "p.(=)" "23"
"0000173969" "00025617" "10" "52" "0" "60" "0" "c.52_60del" "r.(?)" "p.(Leu18_Leu20del)" "1"
"0000173970" "00025617" "10" "60" "0" "61" "0" "c.60_61dup" "r.(?)" "p.(Ala21Glyfs*63)" "1"
"0000173971" "00025617" "90" "3502" "0" "3502" "0" "c.3502T>C" "r.(?)" "p.(Tyr1168His)" "16"
"0000173972" "00025617" "90" "3804" "0" "3804" "0" "c.3804del" "r.(?)" "p.(Glu1270Argfs*169)" "18"
"0000173973" "00025617" "90" "4081" "0" "4081" "0" "c.4081T>G" "r.(?)" "p.(Cys1361Gly)" "19"
"0000173974" "00025617" "90" "518" "0" "518" "0" "c.518C>T" "r.(?)" "p.(Thr173Met)" "3"
"0000173975" "00025617" "10" "1801" "62" "1801" "62" "c.1801+62C>T" "r.(?)" "p.(=)" "8i"
"0000173976" "00025617" "10" "2503" "37" "2503" "37" "c.2503+37C>T" "r.(?)" "p.(=)" "11i"
"0000173977" "00025617" "10" "2503" "78" "2503" "78" "c.2503+78A>G" "r.(?)" "p.(=)" "11i"
"0000173978" "00025617" "10" "324" "0" "324" "0" "c.324C>G" "r.(?)" "p.(=)" "2"
"0000173979" "00025617" "10" "3918" "0" "3918" "0" "c.3918G>A" "r.(?)" "p.(=)" "18i"
"0000173980" "00025617" "10" "4348" "13" "4348" "13" "c.4348+13A>G" "r.(?)" "p.(=)" "20i"
"0000173981" "00025617" "10" "4380" "0" "4380" "0" "c.4380C>T" "r.(?)" "p.(=)" "21"
"0000173982" "00025617" "10" "4431" "0" "4431" "0" "c.4431C>T" "r.(?)" "p.(=)" "21"
"0000173983" "00025617" "10" "4488" "54" "4488" "54" "c.4488+54C>A" "r.(?)" "p.(=)" "21i"
"0000173984" "00025617" "10" "4488" "58" "4488" "58" "c.4488+58G>A" "r.(?)" "p.(=)" "21i"
"0000173985" "00025617" "10" "4574" "0" "4574" "0" "c.4574C>T" "r.(?)" "p.(Ala1525Val)" "22"
"0000173986" "00025617" "10" "488" "53" "488" "53" "c.488+53C>T" "r.(?)" "p.(=)" "2i"
"0000173987" "00025617" "10" "639" "0" "639" "0" "c.639C>T" "r.(?)" "p.(=)" "3"
"0000173988" "00025617" "10" "686" "61" "686" "61" "c.686+61C>T" "r.(?)" "p.(=)" "3i"
"0000173989" "00025617" "90" "1321" "0" "1321" "0" "c.1321G>A" "r.(?)" "p.(Glu441Lys)" "6"
"0000173990" "00025617" "90" "2978" "0" "2978" "0" "c.2978G>A" "r.(?)" "p.(Trp993*)" "13"
"0000173991" "00025617" "10" "1828" "0" "1828" "0" "c.1828G>A" "r.(?)" "p.(Gly610Arg)" "9"
"0000173992" "00025617" "90" "3758" "0" "3758" "0" "c.3758G>T" "r.(?)" "p.(Cys1253Phe)" "17"
"0000173993" "00025617" "90" "4489" "-1" "4489" "-1" "c.4489-1G>A" "r.spl?" "p.?" "21i"
"0000173994" "00025617" "90" "1058" "0" "1058" "0" "c.1058G>A" "r.(?)" "p.(Arg353Gln)" "6"
"0000173995" "00025617" "90" "1058" "0" "1058" "0" "c.1058G>A" "r.(?)" "p.(Arg353Gln)" "6"
"0000173996" "00025617" "90" "1169" "0" "1169" "0" "c.1169C>A" "r.(?)" "p.(Thr390Lys)" "6"
"0000173997" "00025617" "90" "1210" "0" "1210" "0" "c.1210G>A" "r.(?)" "p.(Gly404Arg)" "6"
"0000173998" "00025617" "90" "2718" "0" "2721" "0" "c.2718_2721del" "r.(?)" "p.(Met907Thrfs*52)" "12"
"0000173999" "00025617" "90" "1225" "0" "1225" "0" "c.1225A>G" "r.(?)" "p.(Thr409Ala)" "6"
"0000174000" "00025617" "90" "1275" "0" "1275" "0" "c.1275G>A" "r.(?)" "p.(Trp425*)" "6"
"0000174001" "00025617" "90" "1275" "0" "1275" "0" "c.1275G>A" "r.(?)" "p.(Trp425*)" "6"
"0000174002" "00025617" "90" "1275" "0" "1275" "0" "c.1275G>A" "r.(?)" "p.(Trp425*)" "6"
"0000174003" "00025617" "90" "1300" "0" "1300" "0" "c.1300G>A" "r.(?)" "p.(Asp434Asn)" "6"
"0000174004" "00025617" "90" "1559" "0" "1559" "0" "c.1559G>T" "r.(?)" "p.(Gly520Val)" "7"
"0000174005" "00025617" "90" "1432" "0" "1432" "0" "c.1432T>A" "r.(?)" "p.(Trp478Arg)" "7"
"0000174006" "00025617" "90" "1512" "0" "1512" "0" "c.1512G>T" "r.(?)" "p.(W504C)" "7"
"0000174007" "00025617" "90" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Glu460Lys)" "6"
"0000174008" "00025617" "90" "209" "0" "210" "0" "c.209_210delinsAA" "r.(?)" "p.(Phe70*)" "2"
"0000174009" "00025617" "90" "1592" "0" "1592" "0" "c.1592A>T" "r.(?)" "p.(Asn531Ile)" "8"
"0000174010" "00025617" "90" "1592" "0" "1592" "0" "c.1592A>T" "r.(?)" "p.(Asn531Ile)" "8"
"0000174011" "00025617" "90" "1750" "0" "1750" "0" "c.1750C>T" "r.(?)" "p.(Gln584*)" "8"
"0000174012" "00025617" "90" "4512" "0" "4517" "0" "c.4512_4517delinsTGTACAACAT" "r.(?)" "p.(Ala1505Valfs*46)" "22"
"0000174013" "00025617" "90" "1828" "0" "1828" "0" "c.1828G>A" "r.(?)" "p.(Gly610Arg)" "9"
"0000174014" "00025617" "90" "2197" "0" "2197" "0" "c.2197T>C" "r.(?)" "p.(Tyr733His)" "10"
"0000174015" "00025617" "90" "2247" "0" "2247" "0" "c.2247del" "r.(?)" "p.(Gln750Serfs*48)" "10"
"0000174016" "00025617" "90" "1199" "0" "1199" "0" "c.1199C>A" "r.(?)" "p.(Ala400Glu)" "6"
"0000174017" "00025617" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Asp203Asn)" "3"
"0000174018" "00025617" "90" "2202" "0" "2202" "0" "c.2202G>A" "r.(?)" "p.(Trp734*)" "10"
"0000174019" "00025617" "90" "2247" "0" "2247" "0" "c.2247del" "r.(?)" "p.(Gln750Serfs*48)" "10"
"0000174020" "00025617" "90" "2737" "0" "2737" "0" "c.2737dup" "r.(?)" "p.(Cys913Leufs*73)" "13"
"0000174023" "00025617" "90" "2409" "0" "2503" "79" "c.2409_2503+79del" "r.(?)" "p.(G804_G835delfs49X)" "11"
"0000174024" "00025617" "90" "3232" "0" "3232" "0" "c.3232C>T" "r.(?)" "p.(Arg1078*)" "14"
"0000174025" "00025617" "90" "3295" "0" "3295" "0" "c.3295G>T" "r.(?)" "p.(Asp1099Tyr)" "15"
"0000174026" "00025617" "90" "4105" "0" "4106" "0" "c.4105_4106del" "r.(?)" "p.(Met1369Valfs*2)" "19"
"0000174029" "00025617" "90" "3763" "2" "3763" "2" "c.3763+2T>C" "r.spl?" "p.?" "17i"
"0000174030" "00025617" "90" "731" "0" "731" "0" "c.731C>T" "r.spl" "p.(Thr244Met)" "4"
"0000174031" "00025617" "90" "4202" "0" "4202" "0" "c.4202G>A" "r.spl" "p.(Gly1401Asp)" "20"
"0000174032" "00025617" "90" "4588" "2" "4588" "2" "c.4588+2T>C" "r.spl?" "p.?" "22i"
"0000174033" "00025617" "90" "1067" "0" "1067" "0" "c.1067C>T" "r.(?)" "p.(Ser356Leu)" "6"
"0000174034" "00025617" "90" "765" "0" "765" "0" "c.765G>A" "r.(?)" "p.(Trp255*)" "4"
"0000174035" "00025617" "90" "789" "0" "789" "0" "c.789C>A" "r.(?)" "p.(Cys263*)" "4"
"0000174036" "00025617" "90" "2202" "0" "2202" "0" "c.2202G>A" "r.(?)" "p.(Trp734*)" "10"
"0000174037" "00025617" "90" "920" "0" "920" "0" "c.920C>T" "r.(?)" "p.(Ser307Phe)" "5"
"0000174038" "00025617" "90" "920" "0" "920" "0" "c.920C>T" "r.(?)" "p.(Ser307Phe)" "5"
"0000174039" "00025617" "90" "1000" "0" "1004" "0" "c.1000_1004dup" "r.(?)" "p.(Cys336Glyfs*50)" "5"
"0000174040" "00025617" "90" "1000" "0" "1004" "0" "c.1000_1004dup" "r.(?)" "p.(Cys336Glyfs*50)" "5"
"0000174041" "00025617" "90" "1042" "0" "1042" "0" "c.1042C>T" "r.(?)" "p.(Arg348Trp)" "6"
"0000174042" "00025617" "90" "3337" "0" "3337" "0" "c.3337C>T" "r.(?)" "p.(Arg1113Cys)" "15"
"0000174043" "00025617" "90" "2047" "0" "2047" "0" "c.2047G>A" "r.(?)" "p.(Asp683Asn)" "9"
"0000174044" "00025617" "90" "3804" "0" "3804" "0" "c.3804del" "r.(?)" "p.(Glu1270Argfs*169)" "18"
"0000174045" "00025617" "90" "3804" "0" "3804" "0" "c.3804del" "r.(?)" "p.(Glu1270Argfs*169)" "18"
"0000174046" "00025617" "90" "1067" "0" "1067" "0" "c.1067C>T" "r.(?)" "p.(Ser356Leu)" "6"
"0000174047" "00025617" "90" "1364" "0" "1364" "0" "c.1364C>T" "r.(?)" "p.(Ser455Leu)" "6"
"0000174048" "00025617" "90" "1532" "0" "1532" "0" "c.1532A>C" "r.(?)" "p.(Asp511Ala)" "7"
"0000174049" "00025617" "90" "1564" "0" "1564" "0" "c.1564G>A" "r.(?)" "p.(Ala522Thr)" "7"
"0000174050" "00025617" "90" "1604" "0" "1604" "0" "c.1604C>T" "r.(?)" "p.(Thr535Met)" "8"
"0000174051" "00025617" "90" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" "8"
"0000174052" "00025617" "90" "1850" "0" "1850" "0" "c.1850T>G" "r.(?)" "p.(Phe617Cys)" "9"
"0000174053" "00025617" "90" "2392" "0" "2392" "0" "c.2392A>G" "r.(?)" "p.(Thr798Ala)" "11"
"0000174054" "00025617" "90" "2413" "0" "2413" "0" "c.2413C>T" "r.(?)" "p.(Arg805Trp)" "11"
"0000174055" "00025617" "90" "2737" "0" "2737" "0" "c.2737dup" "r.(?)" "p.(Cys913Leufs*73)" "12"
"0000174056" "00025617" "90" "3107" "0" "3107" "0" "c.3107G>A" "r.(?)" "p.(Arg1036Gln)" "14"
"0000174057" "00025617" "90" "3361" "0" "3361" "0" "c.3361A>G" "r.(?)" "p.(Asn1121Asp)" "15"
"0000174058" "00025617" "90" "4609" "0" "4609" "0" "c.4609G>A" "r.(?)" "p.(Ala1537Thr)" "23"
"0000174059" "00025617" "90" "461" "0" "461" "0" "c.461G>T" "r.(?)" "p.(Arg154Met)" "2"
"0000174060" "00025617" "90" "731" "0" "731" "0" "c.731C>T" "r.(?)" "p.(Thr244Met)" "4"
"0000174061" "00025617" "90" "765" "0" "765" "0" "c.765G>A" "r.(?)" "p.(Trp255*)" "4"
"0000174062" "00025617" "90" "844" "0" "844" "0" "c.844A>G" "r.(?)" "p.(Met282Val)" "4"
"0000174063" "00025617" "90" "85" "0" "85" "0" "c.85G>A" "r.(?)" "p.(Ala29Thr)" "1"
"0000174064" "00025617" "90" "1828" "0" "1828" "0" "c.1828G>T" "r.(?)" "p.(Gly610Trp)" "9"
"0000235424" "00025617" "70" "1480" "0" "1480" "0" "c.1480C>T" "r.(?)" "p.(Arg494Trp)" "7"
"0000235425" "00025617" "70" "2588" "0" "2588" "0" "c.2588G>A" "r.(?)" "p.(Trp863*)" "12"
"0000626458" "00025617" "90" "1264" "0" "1264" "0" "c.1264G>A" "r.(?)" "p.(Ala422Thr)" ""
"0000626459" "00025617" "30" "2447" "0" "2447" "0" "c.2447A>C" "r.(?)" "p.(Gln816Pro)" ""
"0000628278" "00025617" "90" "1619" "0" "1619" "0" "c.1619T>C" "r.(?)" "p.(Leu540Pro)" ""
"0000628380" "00025617" "50" "2555" "0" "2555" "0" "c.2555C>T" "r.(?)" "p.(Thr852Met)" ""
"0000629372" "00025617" "90" "2302" "0" "2302" "0" "c.2302C>G" "r.(?)" "p.(Arg752Gly)" "10"
"0000629373" "00025617" "90" "4099" "0" "4099" "0" "c.4099G>A" "r.(?)" "p.(Glu1367Lys)" "19"
"0000629374" "00025617" "90" "1709" "0" "1709" "0" "c.1709G>A" "r.(?)" "p.(Arg570Gln)" "8"
"0000629375" "00025617" "90" "1481" "0" "1481" "0" "c.1481G>A" "r.(?)" "p.(Arg494Gln)" ""
"0000629376" "00025617" "90" "1507" "0" "1507" "0" "c.1507G>A" "r.(?)" "p.(Gly503Arg)" ""
"0000629377" "00025617" "50" "1197" "0" "1197" "0" "c.1197G>T" "r.(?)" "p.(Arg399Ser)" ""
"0000629378" "00025617" "50" "394" "0" "394" "0" "c.394A>G" "r.(?)" "p.(Iso132Val)" ""
"0000629379" "00025617" "90" "4488" "2" "4488" "2" "c.4488+2T>G" "r.spl" "p.?" "21i"
"0000629380" "00025617" "90" "4119" "0" "4119" "0" "c.4119dup" "r.(?)" "p.(Lys1374GlnfsTer176)" ""
"0000629381" "00025617" "90" "3804" "0" "3804" "0" "c.3804del" "r.(?)" "p.(Arg1270fs*1438)" "18"
"0000629382" "00025617" "70" "518" "0" "518" "0" "c.518C>T" "r.(?)" "p.(Thr173Met)" "3"
"0000629383" "00025617" "90" "3502" "0" "3502" "0" "c.3502T>C" "r.(?)" "p.(Tyr1168His)" "16"
"0000629384" "00025617" "90" "4081" "0" "4081" "0" "c.4081T>G" "r.(?)" "p.(Cys1361Gly)" "19"
"0000629436" "00025617" "90" "889" "0" "889" "0" "c.889dup" "r.(?)" "p.(Thr297Asnfs*3)" ""
"0000629437" "00025617" "90" "2827" "1" "2827" "1" "c.2827+1G>A" "r.spl" "p.(Gln836Argfs*17)" ""
"0000629440" "00025617" "90" "1042" "0" "1042" "0" "c.1042C>T" "r.(?)" "p.(Arg348Trp)" ""
"0000629441" "00025617" "90" "1141" "0" "1141" "0" "c.1141G>A" "r.(?)" "p.(Asp381Asn)" "6"
"0000629442" "00025617" "90" "1870" "0" "1870" "0" "c.1870C>T" "r.(?)" "p.(Arg624Trp)" ""
"0000629443" "00025617" "90" "4550" "0" "4550" "0" "c.4550A>G" "r.(?)" "p.(Tyr1517Cys)" ""
"0000629444" "00025617" "70" "4112" "-3" "4112" "-3" "c.4112-3C>G" "r.spl?" "p.(?)" ""
"0000629445" "00025617" "90" "3914" "0" "3914" "0" "c.3914G>A" "r.(?)" "p.(Cys1305Tyr)" ""
"0000629446" "00025617" "70" "2254" "0" "2254" "0" "c.2254C>T" "r.(?)" "p.(Arg752Trp)" ""
"0000629493" "00025617" "90" "1467" "0" "1467" "0" "c.1467del" "r.(?)" "p.(Leu489fs*40)" ""
"0000629681" "00025617" "30" "266" "0" "266" "0" "c.266A>G" "r.(?)" "p.(Gln89Arg)" "2"
"0000629682" "00025617" "50" "3989" "0" "3989" "0" "c.3989C>T" "r.(?)" "p.(Ala1330Val)" "18"
"0000729811" "00025617" "90" "1696" "0" "1696" "0" "c.1696dup" "r.(?)" "p.(Arg566ProfsTer18)" ""
"0000731132" "00025617" "70" "260" "0" "260" "0" "c.260T>G" "r.(?)" "p.(Ile87Ser)" ""
"0000731133" "00025617" "10" "266" "0" "266" "0" "c.266A>G" "r.(?)" "p.(Gln89Arg)" ""
"0000731188" "00025617" "90" "1058" "0" "1058" "0" "c.1058G>A" "r.(?)" "p.(Arg353Gln)" ""
"0000731189" "00025617" "90" "1183" "0" "1183" "0" "c.1183C>T" "r.(?)" "p.(Arg395Trp)" ""
"0000731190" "00025617" "90" "1318" "0" "1318" "0" "c.1318A>T" "r.(?)" "p.(Ile440Phe)" ""
"0000731191" "00025617" "90" "1582" "0" "1582" "0" "c.1582G>A" "r.(?)" "p.(Glu528Lys)" ""
"0000731192" "00025617" "90" "1942" "0" "1942" "0" "c.1942G>A" "r.(?)" "p.(Val648Ile)" ""
"0000731193" "00025617" "90" "2738" "0" "2738" "0" "c.2738G>T" "r.(?)" "p.(Cys913Phe)" ""
"0000731194" "00025617" "90" "4087" "0" "4087" "0" "c.4087G>C" "r.(?)" "p.(Asp1363His)" ""
"0000731195" "00025617" "90" "4733" "0" "4733" "0" "c.4733C>T" "r.(?)" "p.(Thr1578Met)" ""
"0000731201" "00025617" "90" "4488" "2" "4488" "2" "c.4488+2T>G" "r.spl" "p.?" ""
"0000731202" "00025617" "90" "4488" "2" "4488" "2" "c.4488+2T>G" "r.spl" "p.?" ""
"0000731206" "00025617" "90" "92" "-2" "92" "-2" "c.92-2A>C" "r.spl" "p.?" ""
"0000732529" "00025617" "90" "4053" "0" "4053" "0" "c.4053del" "r.(?)" "p.(Lys1352Asnfs*87)" ""
"0000732531" "00025617" "90" "748" "0" "749" "0" "c.748_749del" "r.(?)" "p.(Leu250Valfs*50)" ""
"0000732607" "00025617" "50" "4574" "0" "4574" "0" "c.4574C>T" "r.(?)" "p.(Ala1525Val)" ""
"0000735175" "00025617" "50" "4268" "0" "4268" "0" "c.4268C>T" "r.(?)" "p.(Pro1423Leu)" ""
"0000735183" "00025617" "30" "4446" "0" "4446" "0" "c.4446G>C" "r.(?)" "p.(Ser1482=)" ""
"0000735809" "00025617" "90" "1300" "0" "1300" "0" "c.1300G>A" "r.(?)" "p.(Asp434Asn)" ""
"0000735810" "00025617" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000735811" "00025617" "90" "1828" "0" "1828" "0" "c.1828G>C" "r.(?)" "p.(Gly610Arg)" ""
"0000735813" "00025617" "70" "235" "0" "235" "0" "c.235T>C" "r.(?)" "p.(Trp79Arg)" ""
"0000735815" "00025617" "90" "4202" "0" "4202" "0" "c.4202G>A" "r.(?)" "p.(Gly1401Asp)" ""
"0000735817" "00025617" "90" "425" "0" "425" "0" "c.425G>A" "r.(?)" "p.(Arg142Gln)" ""
"0000760070" "00025617" "50" "2489" "0" "2489" "0" "c.2489C>T" "r.(?)" "p.(Ser830Leu)" ""
"0000760179" "00025617" "50" "121" "0" "121" "0" "c.121C>T" "r.(?)" "p.(Arg41Trp)" ""
"0000760434" "00025617" "50" "1034" "0" "1034" "0" "c.1034T>A" "r.(?)" "p.(Leu345Gln)" ""
"0000765772" "00025617" "70" "1655" "0" "1655" "0" "c.1655C>T" "r.(?)" "p.(Thr552Met)" ""
"0000765810" "00025617" "70" "685" "0" "685" "0" "c.685C>T" "r.(?)" "p.(Arg229Trp)" ""
"0000766012" "00025617" "70" "731" "0" "731" "0" "c.731C>G" "r.(?)" "p.(Thr244Arg)" ""
"0000766013" "00025617" "70" "1330" "0" "1330" "0" "c.1330C>T" "r.(?)" "p.(Arg444Cys)" ""
"0000766014" "00025617" "70" "1833" "0" "1833" "0" "c.1833dup" "r.(?)" "p.(Cys612ValfsTer25)" ""
"0000766015" "00025617" "70" "4098" "0" "4098" "0" "c.4098C>G" "r.(?)" "p.(Asp1366Glu)" ""
"0000766018" "00025617" "30" "3361" "0" "3361" "0" "c.3361A>G" "r.(?)" "p.(Asn1121Asp)" ""
"0000766019" "00025617" "30" "55" "0" "60" "0" "c.55_60del" "r.(?)" "p.(Leu19_Leu20del)" ""
"0000766023" "00025617" "10" "58" "0" "60" "0" "c.58_60dup" "r.(?)" "p.(Leu20dup)" ""
"0000783993" "00025617" "50" "805" "0" "805" "0" "c.805G>T" "r.(?)" "p.(Gly269Trp)" ""
"0000784613" "00025617" "50" "3085" "0" "3085" "0" "c.3085C>T" "r.(?)" "p.(Leu1029Phe)" ""
"0000784617" "00025617" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Met)" ""
"0000785473" "00025617" "90" "1564" "0" "1564" "0" "c.1564G>A" "r.(?)" "p.(Ala522Thr)" ""
"0000785474" "00025617" "90" "3403" "0" "3403" "0" "c.3403C>T" "r.(?)" "p.(Arg1135Cys)" ""
"0000785475" "00025617" "90" "2300" "0" "2300" "0" "c.2300delC" "r.(?)" "p.(Leu768TrpfsTer30)" ""
"0000785476" "00025617" "90" "2716" "0" "2719" "0" "c.2716_2719del" "r.(?)" "p.(Met907ThrfsTer52)" ""
"0000785477" "00025617" "90" "2737" "0" "2737" "0" "c.2737dupT" "r.(?)" "p.(Cys913LeufsTer73)" ""
"0000785478" "00025617" "90" "4087" "0" "4087" "0" "c.4087G>A" "r.(?)" "p.(Asp1363Asn)" ""
"0000785479" "00025617" "90" "3310" "0" "3310" "0" "c.3310G>A" "r.(?)" "p.(Glu1104Lys)" ""
"0000785480" "00025617" "90" "2635" "0" "2635" "0" "c.2635C>T" "r.(?)" "p.(Arg879Cys)" ""
"0000785481" "00025617" "90" "4720" "0" "4720" "0" "c.4720C>G" "r.(?)" "p.(Pro1574Ala)" ""
"0000785482" "00025617" "90" "4517" "0" "4517" "0" "c.4517C>T" "r.(?)" "p.(Thr1506Met)" ""
"0000785483" "00025617" "90" "1264" "0" "1264" "0" "c.1264G>A" "r.(?)" "p.(Ala422Thr)" ""
"0000785484" "00025617" "90" "1199" "0" "1199" "0" "c.1199C>A" "r.(?)" "p.(Ala400Glu)" ""
"0000785485" "00025617" "90" "4049" "0" "4049" "0" "c.4049T>G" "r.(?)" "p.(Leu1350Arg)" ""
"0000785486" "00025617" "90" "1265" "0" "1265" "0" "c.1265C>T" "r.(?)" "p.(Ala422Val)" ""
"0000785487" "00025617" "90" "3782" "0" "3782" "0" "c.3782C>G" "r.(?)" "p.(Pro1261Arg)" ""
"0000785488" "00025617" "90" "803" "0" "803" "0" "c.803G>A" "r.(?)" "p.(Gly268Glu)" ""
"0000785489" "00025617" "90" "2318" "0" "2318" "0" "c.2318G>A" "r.(?)" "p.(Gly773Asp)" ""
"0000785512" "00025617" "90" "2543" "0" "2543" "0" "c.2543C>T" "r.(?)" "p.(Pro848Leu)" ""
"0000785513" "00025617" "90" "1042" "0" "1042" "0" "c.1042C>T" "r.(?)" "p.(Arg348Trp)" ""
"0000785514" "00025617" "90" "1270" "0" "1270" "0" "c.1270G>A" "r.(?)" "p.(Asp424Asn)" ""
"0000785515" "00025617" "90" "1183" "0" "1183" "0" "c.1183C>T" "r.(?)" "p.(Arg395Trp)" ""
"0000785516" "00025617" "90" "119" "0" "119" "0" "c.119G>A" "r.(?)" "p.(Arg40His)" ""
"0000785517" "00025617" "90" "3304" "0" "3304" "0" "c.3304G>A" "r.(?)" "p.(Glu1102Lys)" ""
"0000785518" "00025617" "90" "1264" "0" "1264" "0" "c.1264G>A" "r.(?)" "p.(Ala422Thr)" ""
"0000786521" "00025617" "90" "3107" "0" "3107" "0" "c.3107G>A" "r.(?)" "p.(Arg1036Gln)" ""
"0000788383" "00025617" "50" "4481" "0" "4481" "0" "c.4481A>C" "r.(?)" "p.(Tyr1494Ser)" "21"
"0000788455" "00025617" "50" "4148" "0" "4148" "0" "c.4148A>C" "r.(?)" "p.(His1383Pro)" "20"
"0000790151" "00025617" "70" "2413" "0" "2413" "0" "c.2413C>T" "r.(?)" "p.(Arg805Trp)" ""
"0000790152" "00025617" "70" "1532" "0" "1532" "0" "c.1532A>C" "r.(?)" "p.(Asp511Ala)" ""
"0000794271" "00025617" "70" "4488" "1" "4488" "1" "c.4488+1G>A" "." "." ""
"0000794949" "00025617" "70" "891" "0" "892" "0" "c.891_892del" "r.(?)" "p.(Arg298Leufs*2)" ""
"0000794950" "00025617" "70" "2484" "0" "2484" "0" "c.2484C>G" "r.(?)" "p.(Ile828Met)" ""
"0000794951" "00025617" "70" "2626" "0" "2626" "0" "c.2626G>A" "r.(?)" "p.(Gly876Ser)" ""
"0000794952" "00025617" "70" "3361" "0" "3361" "0" "c.3361A>G" "r.(?)" "p.(Asn1121Asp)" ""
"0000794953" "00025617" "70" "4025" "0" "4025" "0" "c.4025G>A" "r.(?)" "p.(Arg1342Gln)" ""
"0000794954" "00025617" "70" "4025" "0" "4025" "0" "c.4025G>A" "r.(?)" "p.(Arg1342Gln)" ""
"0000794955" "00025617" "70" "4087" "0" "4087" "0" "c.4087G>A" "r.(?)" "p.(Asp1363Asn)" ""
"0000794956" "00025617" "70" "4087" "0" "4087" "0" "c.4087G>A" "r.(?)" "p.(Asp1363Asn)" ""
"0000795580" "00025617" "50" "3361" "0" "3361" "0" "c.3361A>G" "r.(?)" "p.(Asn1121Asp)" "15"
"0000795581" "00025617" "50" "3922" "0" "3922" "0" "c.3922G>A" "r.(?)" "p.(Gly1308Ser)" "18"
"0000795582" "00025617" "50" "3361" "0" "3361" "0" "c.3361A>G" "r.(?)" "p.(Asn1121Asp)" "15"
"0000795583" "00025617" "50" "3538" "0" "3538" "0" "c.3538G>A" "r.(?)" "p.(Val1180Met)" "16"
"0000795584" "00025617" "50" "2578" "0" "2578" "0" "c.2578T>C" "r.(?)" "p.(Trp860Arg)" "12"
"0000795585" "00025617" "50" "2092" "-4" "2092" "-4" "c.2092-4C>T" "r.spl?" "p.(?)" "12"
"0000795586" "00025617" "50" "4084" "0" "4084" "0" "c.4084A>G" "r.(?)" "p.(Ile1362Val)" "18"
"0000795587" "00025617" "70" "4049" "0" "4049" "0" "c.4049T>A" "r.(?)" "p.(Leu1350His)" "19"
"0000795588" "00025617" "70" "4517" "0" "4517" "0" "c.4517C>T" "r.(?)" "p.(Thr1506Met)" "22"
"0000795606" "00025617" "50" "3361" "0" "3361" "0" "c.3361A>G" "r.(?)" "p.(Asn1121Asp)" "15"
"0000796067" "00025617" "90" "3656" "0" "3656" "0" "c.3656G>A" "r.(?)" "p.(Arg1219His)" ""
"0000796068" "00025617" "90" "4148" "0" "4148" "0" "c.4148A>C" "r.(?)" "p.(His1383Pro)" ""
"0000796069" "00025617" "90" "4619" "0" "4619" "0" "c.4619C>T" "r.(?)" "p.(Thr1540Met)" ""
"0000797012" "00025617" "50" "1548" "0" "1548" "0" "c.1548G>T" "r.(?)" "p.(Lys516Asn)" ""
"0000797013" "00025617" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Met)" ""
"0000797215" "00025617" "70" "4450" "0" "4450" "0" "c.4450dup" "r.(?)" "p.(Ser1484Lysfs*66)" ""
"0000797305" "00025617" "50" "1265" "0" "1265" "0" "c.1265C>T" "r.(?)" "p.(Ala422Val)" ""
"0000797306" "00025617" "50" "3536" "0" "3536" "0" "c.3536G>A" "r.(?)" "p.(Arg1179His)" ""
"0000797307" "00025617" "50" "3977" "0" "3977" "0" "c.3977G>A" "r.(?)" "p.(Arg1326His)" ""
"0000797308" "00025617" "50" "4643" "0" "4643" "0" "c.4643G>T" "r.(?)" "p.(Cys1548Phe)" ""
"0000797309" "00025617" "50" "2872" "0" "2872" "0" "c.2872C>T" "r.(?)" "p.(Arg958Trp)" ""
"0000797310" "00025617" "50" "3361" "0" "3361" "0" "c.3361A>G" "r.(?)" "p.(Asn1121Asp)" ""
"0000797311" "00025617" "50" "2092" "-4" "2092" "-4" "c.2092-4C>T" "r.spl" "p.(?)" ""
"0000797312" "00025617" "50" "2237" "0" "2237" "0" "c.2237G>A" "r.(?)" "p.(Arg746Gln)" ""
"0000797313" "00025617" "50" "3361" "0" "3361" "0" "c.3361A>G" "r.(?)" "p.(Asn1121Asp)" ""
"0000797314" "00025617" "50" "3361" "0" "3361" "0" "c.3361A>G" "r.(?)" "p.(Asn1121Asp)" ""
"0000797315" "00025617" "50" "518" "0" "518" "0" "c.518C>T" "r.(?)" "p.(Thr173Met)" ""
"0000797316" "00025617" "50" "3361" "0" "3361" "0" "c.3361A>G" "r.(?)" "p.(Asn1121Asp)" ""
"0000797317" "00025617" "50" "2377" "0" "2377" "0" "c.2377G>A" "r.(?)" "p.(Gly793Arg)" ""
"0000797318" "00025617" "50" "4268" "0" "4268" "0" "c.4268C>T" "r.(?)" "p.(Pro1423Leu)" ""
"0000797319" "00025617" "50" "4484" "0" "4484" "0" "c.4484C>T" "r.(?)" "p.(Pro1495Leu)" ""
"0000797320" "00025617" "50" "3361" "0" "3361" "0" "c.3361A>G" "r.(?)" "p.(Asn1121Asp)" ""
"0000797321" "00025617" "50" "3361" "0" "3361" "0" "c.3361A>G" "r.(?)" "p.(Asn1121Asp)" ""
"0000797322" "00025617" "50" "1349" "0" "1349" "0" "c.1349G>A" "r.(?)" "p.(Arg450His)" ""
"0000797323" "00025617" "90" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Leu145Phe)" ""
"0000797324" "00025617" "50" "3361" "0" "3361" "0" "c.3361A>G" "r.(?)" "p.(Asn1121Asp)" ""
"0000797325" "00025617" "50" "3361" "0" "3361" "0" "c.3361A>G" "r.(?)" "p.(Asn1121Asp)" ""
"0000797326" "00025617" "50" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Ser1486Leu)" ""
"0000797327" "00025617" "90" "1708" "0" "1708" "0" "c.1708C>T" "r.(?)" "p.(Arg570Trp)" ""
"0000797328" "00025617" "50" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Glu460Lys)" ""
"0000797329" "00025617" "90" "1870" "0" "1870" "0" "c.1870C>T" "r.(?)" "p.(Arg624Trp)" ""
"0000797330" "00025617" "50" "2101" "0" "2101" "0" "c.2101C>T" "r.(?)" "p.(Arg701Cys)" ""
"0000797331" "00025617" "90" "4049" "0" "4049" "0" "c.4049T>A" "r.(?)" "p.(Leu1350His)" ""
"0000797332" "00025617" "90" "1123" "0" "1123" "0" "c.1123G>A" "r.(?)" "p.(Ala375Thr)" ""
"0000797333" "00025617" "90" "4112" "-2" "4112" "-2" "c.4112-2A>G" "r.spl" "p.(?)" ""
"0000797334" "00025617" "90" "4348" "3" "4348" "3" "c.4348+3A>C" "r.spl?" "p.(?)" ""
"0000797335" "00025617" "90" "1870" "0" "1870" "0" "c.1870C>T" "r.(?)" "p.(Arg624Trp)" ""
"0000797336" "00025617" "90" "121" "0" "121" "0" "c.121C>T" "r.(?)" "p.(Arg41Trp)" ""
"0000797337" "00025617" "90" "1480" "0" "1480" "0" "c.1480C>T" "r.(?)" "p.(Arg494Trp)" ""
"0000797338" "00025617" "90" "4027" "0" "4027" "0" "c.4027T>G" "r.(?)" "p.(Cys1343Gly)" ""
"0000797339" "00025617" "90" "3392" "0" "3392" "0" "c.3392C>T" "r.(?)" "p.(Ala1131Val)" ""
"0000797340" "00025617" "90" "1193" "0" "1193" "0" "c.1193G>A" "r.(?)" "p.(Arg398His)" ""
"0000797341" "00025617" "90" "871" "0" "871" "0" "c.871C>T" "r.(?)" "p.(Arg291Trp)" ""
"0000797342" "00025617" "90" "1145" "0" "1145" "0" "c.1145C>T" "r.(?)" "p.(Pro382Leu)" ""
"0000797343" "00025617" "90" "2434" "0" "2434" "0" "c.2434G>A" "r.(?)" "p.(Asp812Asn)" ""
"0000797344" "00025617" "90" "3122" "0" "3122" "0" "c.3122C>T" "r.(?)" "p.(Thr1041Met)" ""
"0000797345" "00025617" "50" "3361" "0" "3361" "0" "c.3361A>G" "r.(?)" "p.(Asn1121Asp)" ""
"0000797346" "00025617" "90" "2447" "0" "2447" "0" "c.2447A>C" "r.(?)" "p.(Gln816Pro)" ""
"0000797347" "00025617" "90" "821" "0" "821" "0" "c.821T>G" "r.(?)" "p.(Ile274Ser)" ""
"0000797348" "00025617" "90" "1969" "0" "1969" "0" "c.1969A>G" "r.(?)" "p.(Arg657Gly)" ""
"0000797349" "00025617" "90" "1270" "0" "1270" "0" "c.1270G>T" "r.(?)" "p.(Asp424Tyr)" ""
"0000797350" "00025617" "90" "3922" "0" "3922" "0" "c.3922G>A" "r.(?)" "p.(Gly1308Ser)" ""
"0000797351" "00025617" "90" "1434" "0" "1434" "0" "c.1434G>A" "r.(?)" "p.(Trp478Ter)" ""
"0000797352" "00025617" "90" "2051" "0" "2054" "0" "c.2051_2054dup" "r.(?)" "p.(Asn686ValfsTer34)" ""
"0000797353" "00025617" "90" "2263" "0" "2263" "0" "c.2263C>T" "r.(?)" "p.(Leu755Phe)" ""
"0000797354" "00025617" "90" "4624" "0" "4639" "0" "c.4624_4639dup" "r.(?)" "p.(Val1547AlafsTer8)" ""
"0000797355" "00025617" "90" "1321" "0" "1321" "0" "c.1321G>A" "r.(?)" "p.(Glu441Lys)" ""
"0000797356" "00025617" "90" "503" "0" "503" "0" "c.503C>G" "r.(?)" "p.(Thr168Arg)" ""
"0000797357" "00025617" "90" "485" "0" "485" "0" "c.485A>C" "r.(?)" "p.(His162Pro)" ""
"0000797358" "00025617" "90" "1123" "0" "1123" "0" "c.1123G>A" "r.(?)" "p.(Ala375Thr)" ""
"0000797359" "00025617" "50" "3361" "0" "3361" "0" "c.3361A>G" "r.(?)" "p.(Asn1121Asp)" ""
"0000797360" "00025617" "90" "2255" "0" "2255" "0" "c.2255G>C" "r.(?)" "p.(Arg752Pro)" ""
"0000797361" "00025617" "90" "687" "-3" "687" "-3" "c.687-3C>A" "r.spl?" "p.(?)" ""
"0000797362" "00025617" "90" "1801" "0" "1801" "0" "c.1801G>A" "r.(?)" "p.(Gly601Arg)" ""
"0000797363" "00025617" "90" "1436" "0" "1436" "0" "c.1436G>T" "r.(?)" "p.(Gly479Val)" ""
"0000798384" "00025617" "10" "290" "0" "290" "0" "c.290C>T" "r.(?)" "p.(Ala97Val)" ""
"0000798385" "00025617" "90" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Leu145Phe)" ""
"0000798389" "00025617" "90" "1330" "0" "1330" "0" "c.1330C>T" "r.(?)" "p.(Arg444Cys)" ""
"0000798391" "00025617" "90" "1564" "0" "1564" "0" "c.1564G>A" "r.(?)" "p.(Ala522Thr)" ""
"0000798392" "00025617" "90" "1604" "0" "1604" "0" "c.1604C>T" "r.(?)" "p.(Thr535Met)" ""
"0000798393" "00025617" "90" "1850" "0" "1850" "0" "c.1850T>G" "r.(?)" "p.(Phe617Cys)" ""
"0000811559" "00025617" "70" "32" "0" "33" "0" "c.32_33insCTG" "r.(?)" "p.(Leu12delinsProVal)" "1"
"0000811560" "00025617" "70" "1043" "0" "1043" "0" "c.1043G>A" "r.(?)" "p.(Arg348Gln)" "6"
"0000811561" "00025617" "70" "32" "0" "33" "0" "c.32_33insCTG" "r.(?)" "p.(Leu12delinsProVal)" "1"
"0000811562" "00025617" "70" "4733" "0" "4733" "0" "c.4733C>T" "r.(?)" "p.(Thr1578Met)" "23"
"0000811563" "00025617" "70" "1183" "0" "1183" "0" "c.1183C>T" "r.(?)" "p.(Arg395Trp)" "6"
"0000811564" "00025617" "70" "4087" "0" "4087" "0" "c.4087G>C" "r.(?)" "p.(Asp1363His)" "19"
"0000811565" "00025617" "70" "1115" "0" "1115" "0" "c.1115T>C" "r.(?)" "p.(Ile372Thr)" "6"
"0000811566" "00025617" "70" "2566" "0" "2566" "0" "c.2566G>A" "r.(?)" "p.(Asp856Asn)" "11"
"0000811567" "00025617" "70" "2318" "1" "2318" "1" "c.2318+1G>C" "r.spl" "p.(?)" "10i"
"0000811568" "00025617" "70" "3758" "0" "3758" "0" "c.3758del" "r.(?)" "p.(Cys1253Leufs*186)" "17"
"0000811569" "00025617" "70" "2485" "0" "2485" "0" "c.2485G>A" "r.(?)" "p.(Glu829Lys)" "11"
"0000811570" "00025617" "70" "3379" "0" "3379" "0" "c.3379T>C" "r.(?)" "p.(Phe1127Leu)" "15"
"0000811571" "00025617" "70" "1264" "0" "1264" "0" "c.1264G>A" "r.(?)" "p.(Ala422Thr)" "6"
"0000811572" "00025617" "70" "3989" "0" "3989" "0" "c.3989C>T" "r.(?)" "p.(Ala1330Val)" "18"
"0000811573" "00025617" "70" "1091" "0" "1091" "0" "c.1091A>G" "r.(?)" "p.(Asp364Gly)" "6"
"0000811574" "00025617" "70" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Gln368*)" "6"
"0000811575" "00025617" "70" "4488" "2" "4488" "2" "c.4488+2T>G" "r.spl" "p.(?)" "21i"
"0000811576" "00025617" "70" "3763" "2" "3763" "2" "c.3763+2T>C" "r.spl" "p.(?)" "17i"
"0000811654" "00025617" "70" "4488" "2" "4488" "2" "c.4488+2T>G" "r.spl" "p.(?)" ""
"0000811655" "00025617" "70" "4488" "2" "4488" "2" "c.4488+2T>G" "r.spl" "p.(?)" ""
"0000811656" "00025617" "70" "4488" "2" "4488" "2" "c.4488+2T>G" "r.spl" "p.(?)" ""
"0000811657" "00025617" "70" "4488" "2" "4488" "2" "c.4488+2T>G" "r.spl" "p.(?)" ""
"0000811658" "00025617" "70" "4488" "2" "4488" "2" "c.4488+2T>G" "r.spl" "p.(?)" ""
"0000811659" "00025617" "70" "4488" "2" "4488" "2" "c.4488+2T>G" "r.spl" "p.(?)" ""
"0000811660" "00025617" "70" "1942" "0" "1942" "0" "c.1942G>A" "r.(?)" "p.(Val648Ile)" ""
"0000811661" "00025617" "70" "1942" "0" "1942" "0" "c.1942G>A" "r.(?)" "p.(Val648Ile)" ""
"0000811662" "00025617" "70" "304" "0" "304" "0" "c.304G>A" "r.(?)" "p.(Val102Met)" ""
"0000811663" "00025617" "70" "304" "0" "304" "0" "c.304G>A" "r.(?)" "p.(Val102Met)" ""
"0000811664" "00025617" "70" "1732" "0" "1732" "0" "c.1732C>T" "r.(?)" "p.(Arg578Trp)" ""
"0000811665" "00025617" "70" "4048" "0" "4050" "0" "c.4048_4050del" "r.(?)" "p.(Leu1350del)" ""
"0000811666" "00025617" "70" "4048" "0" "4050" "0" "c.4048_4050del" "r.(?)" "p.(Leu1350del)" ""
"0000811667" "00025617" "70" "1193" "0" "1193" "0" "c.1193G>A" "r.(?)" "p.(Arg398His)" ""
"0000811668" "00025617" "70" "1733" "0" "1733" "0" "c.1733G>A" "r.(?)" "p.(Arg578Gln)" ""
"0000811669" "00025617" "70" "1330" "0" "1330" "0" "c.1330C>T" "r.(?)" "p.(Arg444Cys)" ""
"0000811670" "00025617" "70" "3913" "0" "3913" "0" "c.3913T>C" "r.(?)" "p.(Cys1305Arg)" ""
"0000811671" "00025617" "70" "3913" "0" "3913" "0" "c.3913T>C" "r.(?)" "p.(Cys1305Arg)" ""
"0000811672" "00025617" "70" "1043" "0" "1043" "0" "c.1043G>A" "r.(?)" "p.(Arg348Gln)" ""
"0000811673" "00025617" "70" "1043" "0" "1043" "0" "c.1043G>A" "r.(?)" "p.(Arg348Gln)" ""
"0000811674" "00025617" "70" "4025" "0" "4025" "0" "c.4025G>A" "r.(?)" "p.(Arg1342Gln)" ""
"0000811675" "00025617" "70" "4025" "0" "4025" "0" "c.4025G>A" "r.(?)" "p.(Arg1342Gln)" ""
"0000811676" "00025617" "70" "4081" "0" "4081" "0" "c.4081T>G" "r.(?)" "p.(Cys1361Gly)" ""
"0000811677" "00025617" "70" "3328" "0" "3328" "0" "c.3328G>A" "r.(?)" "p.(Gly1110Ser)" ""
"0000811678" "00025617" "70" "3379" "0" "3379" "0" "c.3379T>C" "r.(?)" "p.(Phe1127Leu)" ""
"0000811679" "00025617" "70" "1996" "0" "1996" "0" "c.1996G>A" "r.(?)" "p.(Asp666Asn)" ""
"0000811680" "00025617" "70" "1996" "0" "1996" "0" "c.1996G>A" "r.(?)" "p.(Asp666Asn)" ""
"0000811774" "00025617" "70" "1801" "0" "1801" "0" "c.1801G>A" "r.(?)" "p.(Gly601Arg)" ""
"0000811775" "00025617" "70" "3361" "0" "3361" "0" "c.3361A>G" "r.(?)" "p.(Asn1121Asp)" ""
"0000811776" "00025617" "70" "3977" "0" "3977" "0" "c.3977G>A" "r.(?)" "p.(Arg1326His)" ""
"0000811777" "00025617" "70" "266" "0" "266" "0" "c.266A>G" "r.(?)" "p.(Gln89Arg)" ""
"0000811778" "00025617" "70" "2872" "0" "2872" "0" "c.2872C>T" "r.(?)" "p.(Arg958Trp)" ""
"0000811779" "00025617" "70" "1969" "0" "1969" "0" "c.1969A>G" "r.(?)" "p.(Arg657Gly)" ""
"0000811780" "00025617" "70" "920" "0" "920" "0" "c.920C>A" "r.(?)" "p.(Ser307Tyr)" ""
"0000811781" "00025617" "70" "1193" "0" "1193" "0" "c.1193G>A" "r.(?)" "p.(Arg398His)" ""
"0000811782" "00025617" "70" "290" "0" "290" "0" "c.290C>T" "r.(?)" "p.(Ala97Val)" ""
"0000811783" "00025617" "70" "893" "0" "893" "0" "c.893G>A" "r.(?)" "p.(Arg298His)" ""
"0000811784" "00025617" "70" "290" "0" "290" "0" "c.290C>T" "r.(?)" "p.(Ala97Val)" ""
"0000811794" "00025617" "70" "4112" "-3" "4112" "-3" "c.4112-3C>G" "r.spl" "p.(?)" ""
"0000811795" "00025617" "70" "4112" "-3" "4112" "-3" "c.4112-3C>G" "r.spl" "p.(?)" ""
"0000811796" "00025617" "70" "3914" "0" "3914" "0" "c.3914G>A" "r.(?)" "p.(Cys1305Tyr)" ""
"0000811797" "00025617" "70" "2254" "0" "2254" "0" "c.2254C>T" "r.(?)" "p.(Arg752Trp)" ""
"0000812514" "00025617" "70" "1996" "0" "1996" "0" "c.1996G>A" "r.(?)" "p.(Asp666Asn)" ""
"0000812576" "00025617" "70" "3377" "0" "3377" "0" "c.3377T>C" "r.(?)" "p.(Leu1126Pro)" ""
"0000812577" "00025617" "70" "4519" "0" "4519" "0" "c.4519G>T" "r.(?)" "p.(Asp1507Tyr)" ""
"0000812609" "00025617" "70" "1733" "0" "1733" "0" "c.1733G>A" "r.(?)" "p.(Arg578Gln)" ""
"0000812633" "00025617" "90" "3757" "0" "3757" "0" "c.3757del" "r.(?)" "p.(Cys1253Valfs*186)" ""
"0000812646" "00025617" "70" "4081" "0" "4081" "0" "c.4081T>G" "r.(?)" "p.(Cys1361Gly)" ""
"0000812654" "00025617" "70" "3913" "0" "3913" "0" "c.3913T>C" "r.(?)" "p.(Cys1305Arg)" ""
"0000812655" "00025617" "70" "1330" "0" "1330" "0" "c.1330C>T" "r.(?)" "p.(Arg444Cys)" ""
"0000812676" "00025617" "70" "3581" "0" "3581" "0" "c.3581G>A" "r.(?)" "p.(Arg1194His)" ""
"0000812679" "00025617" "70" "4081" "0" "4081" "0" "c.4081T>G" "r.(?)" "p.(Cys1361Gly)" ""
"0000812685" "00025617" "70" "1996" "0" "1996" "0" "c.1996G>A" "r.(?)" "p.(Asp666Asn)" ""
"0000812687" "00025617" "70" "304" "0" "304" "0" "c.304G>A" "r.(?)" "p.(Val102Met)" ""
"0000812723" "00025617" "70" "2566" "0" "2566" "0" "c.2566G>A" "r.(?)" "p.(Asp856Asn)" ""
"0000812759" "00025617" "70" "3107" "0" "3107" "0" "c.3107G>A" "r.(?)" "p.(Arg1036Gln)" ""
"0000812762" "00025617" "70" "1193" "0" "1193" "0" "c.1193G>A" "r.(?)" "p.(Arg398His)" ""
"0000812794" "00025617" "70" "4819" "0" "4819" "0" "c.4819C>A" "r.(?)" "p.(Pro1607Thr)" ""
"0000812795" "00025617" "70" "2578" "0" "2578" "0" "c.2578T>C" "r.(?)" "p.(Trp860Arg)" ""
"0000812799" "00025617" "90" "4105" "0" "4106" "0" "c.4105_4106del" "r.(?)" "p.(Met1369Valfs*2)" ""
"0000812816" "00025617" "70" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Gln368*)" ""
"0000812819" "00025617" "90" "1150" "0" "1150" "0" "c.1150G>T" "r.(?)" "p.(Glu384*)" ""
"0000812833" "00025617" "70" "2485" "0" "2485" "0" "c.2485G>A" "r.(?)" "p.(Glu829Lys)" ""
"0000814885" "00025617" "70" "1582" "0" "1582" "0" "c.1582G>A" "r.(?)" "p.(Glu528Lys)" ""
"0000814886" "00025617" "70" "4081" "0" "4081" "0" "c.4081T>G" "r.(?)" "p.(Cys1361Gly)" ""
"0000814887" "00025617" "70" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Gln368*)" ""
"0000814888" "00025617" "70" "2558" "0" "2558" "0" "c.2558A>G" "r.(?)" "p.(Gln853Arg)" ""
"0000814889" "00025617" "70" "1264" "0" "1264" "0" "c.1264G>A" "r.(?)" "p.(Ala422Thr)" ""
"0000814890" "00025617" "70" "4488" "2" "4488" "2" "c.4488+2T>G" "r.spl" "p.(?)" ""
"0000814891" "00025617" "70" "91" "1" "91" "1" "c.91+1G>T" "r.spl" "p.(?)" ""
"0000814892" "00025617" "70" "1996" "0" "1996" "0" "c.1996G>A" "r.(?)" "p.(Asp666Asn)" ""
"0000818234" "00025617" "70" "4205" "0" "4205" "0" "c.4205G>A" "r.(?)" "p.(Gly1402Asp)" ""
"0000818235" "00025617" "70" "4205" "0" "4205" "0" "c.4205G>A" "r.(?)" "p.(Gly1402Asp)" ""
"0000818236" "00025617" "70" "2237" "0" "2237" "0" "c.2237G>C" "r.(?)" "p.(Arg746Pro)" ""
"0000818237" "00025617" "70" "2618" "0" "2618" "0" "c.2618A>T" "r.(?)" "p.(Lys873Met)" ""
"0000818238" "00025617" "90" "1384" "0" "1384" "0" "c.1384C>T" "r.(?)" "p.(Arg462*)" ""
"0000818239" "00025617" "90" "2817" "0" "2827" "1" "c.2817_2827+1del" "r.spl?" "p.(Asn940fs)" ""
"0000818561" "00025617" "50" "1801" "0" "1801" "0" "c.1801G>A" "r.(?)" "p.(Gly601Arg)" ""
"0000818562" "00025617" "50" "1801" "0" "1801" "0" "c.1801G>A" "r.(?)" "p.(Gly601Arg)" ""
"0000818581" "00025617" "50" "4027" "0" "4027" "0" "c.4027T>G" "r.(?)" "p.(Cys1343Gly)" ""
"0000818582" "00025617" "50" "4027" "0" "4027" "0" "c.4027T>G" "r.(?)" "p.(Cys1343Gly)" ""
"0000818964" "00025617" "70" "2319" "-1" "2503" "1" "c.(2318+1_2319-1)_(2503+1_2504-1)del" "r.?" "p.?" "10i_11i"
"0000821291" "00025617" "70" "1265" "0" "1265" "0" "c.1265C>T" "r.(?)" "p.(Ala422Val)" ""
"0000821292" "00025617" "90" "4488" "2" "4488" "2" "c.4488+2T>G" "r.(?)" "p.(?)" ""
"0000821571" "00025617" "70" "3242" "0" "3242" "0" "c.3242T>G" "r.(?)" "p.(Leu1081Arg)" ""
"0000823621" "00025617" "70" "2447" "0" "2447" "0" "c.2447A>C" "r.(?)" "p.(Gln816Pro)" "11"
"0000823622" "00025617" "50" "2431" "0" "2431" "0" "c.2431A>G" "r.(?)" "p.(Ile811Val)" "11"
"0000823623" "00025617" "90" "1434" "0" "1434" "0" "c.1434G>A" "r.(?)" "p.(Trp478Ter)" "7"
"0000826055" "00025617" "70" "2827" "1" "2827" "1" "c.2827+1G>A" "r.?" "p.?" ""
"0000828909" "00025617" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Met)" ""
"0000828924" "00025617" "70" "874" "0" "874" "0" "c.874C>G" "r.(?)" "p.(Gln292Glu)" ""
"0000830834" "00025617" "90" "3107" "0" "3107" "0" "c.3107G>A" "r.(?)" "p.(Arg1036Gln)" ""
"0000844556" "00025617" "90" "1176" "0" "1176" "0" "c.1176C>A" "r.(?)" "p.(Asp392Glu)" ""
"0000844557" "00025617" "90" "2435" "0" "2435" "0" "c.2435A>C" "r.(?)" "p.(Asp812Ala)" ""
"0000853137" "00025617" "30" "2529" "0" "2529" "0" "c.2529C>T" "r.(?)" "p.(Asp843=)" ""
"0000853138" "00025617" "30" "2778" "0" "2778" "0" "c.2778C>T" "r.(?)" "p.(Cys926=)" ""
"0000853140" "00025617" "50" "2827" "0" "2827" "0" "c.2827C>T" "r.(?)" "p.(Pro943Ser)" ""
"0000853141" "00025617" "30" "2910" "0" "2910" "0" "c.2910C>T" "r.(?)" "p.(Ile970=)" ""
"0000853142" "00025617" "30" "4032" "0" "4032" "0" "c.4032G>A" "r.(?)" "p.(Ala1344=)" ""
"0000853143" "00025617" "50" "4201" "0" "4201" "0" "c.4201G>A" "r.(?)" "p.(Gly1401Ser)" ""
"0000853144" "00025617" "30" "4293" "0" "4293" "0" "c.4293G>A" "r.(?)" "p.(Pro1431=)" ""
"0000853145" "00025617" "30" "4349" "-17" "4349" "-17" "c.4349-17C>T" "r.(=)" "p.(=)" ""
"0000862670" "00025617" "10" "687" "-17" "687" "-17" "c.687-17C>T" "r.(=)" "p.(=)" ""
"0000862672" "00025617" "30" "2046" "0" "2046" "0" "c.2046T>C" "r.(?)" "p.(Phe682=)" ""
"0000862674" "00025617" "30" "3813" "0" "3813" "0" "c.3813C>T" "r.(?)" "p.(Ile1271=)" ""
"0000862675" "00025617" "50" "3814" "0" "3814" "0" "c.3814G>A" "r.(?)" "p.(Asp1272Asn)" ""
"0000862677" "00025617" "50" "4497" "0" "4497" "0" "c.4497C>G" "r.(?)" "p.(Asn1499Lys)" ""
"0000862678" "00025617" "30" "4782" "0" "4782" "0" "c.4782C>T" "r.(?)" "p.(Pro1594=)" ""
"0000872779" "00025617" "50" "713" "0" "713" "0" "c.713C>T" "r.(?)" "p.(Thr238Met)" ""
"0000877892" "00025617" "70" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" ""
"0000877893" "00025617" "70" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" ""
"0000877894" "00025617" "70" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" ""
"0000877902" "00025617" "90" "608" "0" "608" "0" "c.608A>C" "r.(?)" "p.(Asp203Ala)" ""
"0000877903" "00025617" "90" "608" "0" "608" "0" "c.608A>C" "r.(?)" "p.(Asp203Ala)" ""
"0000877904" "00025617" "90" "1135" "0" "1135" "0" "c.1135G>A" "r.(?)" "p.(Asp379Asn)" ""
"0000877905" "00025617" "90" "1135" "0" "1135" "0" "c.1135G>A" "r.(?)" "p.(Asp379Asn)" ""
"0000877906" "00025617" "90" "1135" "0" "1135" "0" "c.1135G>A" "r.(?)" "p.(Asp379Asn)" ""
"0000877907" "00025617" "90" "1833" "0" "1833" "0" "c.1833dupG" "r.(?)" "p.(Cys612Valfs*25)" ""
"0000877917" "00025617" "70" "2234" "0" "2234" "0" "c.2234C>T" "r.(?)" "p.(Ala745Val)" ""
"0000877918" "00025617" "70" "2234" "0" "2234" "0" "c.2234C>T" "r.(?)" "p.(Ala745Val)" ""
"0000877919" "00025617" "70" "1141" "0" "1141" "0" "c.1141G>A" "r.(?)" "p.(Asp381Asn)" ""
"0000877920" "00025617" "70" "3989" "0" "3989" "0" "c.3989C>T" "r.(?)" "p.(Ala1330Val)" ""
"0000877921" "00025617" "70" "4066" "0" "4066" "0" "c.4066G>A" "r.(?)" "p.(Asp1356Asn)" ""
"0000878637" "00025617" "30" "1992" "0" "1992" "0" "c.1992C>T" "r.(?)" "p.(Asn664=)" ""
"0000878638" "00025617" "90" "2392" "0" "2392" "0" "c.2392A>G" "r.(?)" "p.(Thr798Ala)" ""
"0000878639" "00025617" "30" "2190" "0" "2190" "0" "c.2190G>A" "r.(?)" "p.(Lys730=)" ""
"0000878640" "00025617" "90" "3361" "0" "3361" "0" "c.3361A>G" "r.(?)" "p.(Asn1121Asp)" ""
"0000878641" "00025617" "30" "3427" "27" "3427" "27" "c.3427+27C>T" "r.(?)" "p.(=)" ""
"0000878642" "00025617" "30" "4488" "10" "4488" "10" "c.4488+10G>A" "r.(?)" "p.(=)" ""
"0000878643" "00025617" "10" "4619" "0" "4619" "0" "c.4619C>T" "r.(?)" "p.(Thr1540Met)" ""
"0000878644" "00025617" "30" "4788" "0" "4788" "0" "c.4788C>T" "r.(?)" "p.(Thr1596=)" ""
"0000880167" "00025617" "50" "1666" "0" "1666" "0" "c.1666G>C" "r.(?)" "p.(Asp556His)" "8"
"0000880303" "00025617" "50" "2234" "0" "2234" "0" "c.2234C>T" "r.(?)" "p.(Ala745Val)" "10"
"0000880343" "00025617" "50" "4565" "0" "4565" "0" "c.4565C>T" "r.(?)" "p.(Pro1522Leu)" "22"
"0000890128" "00025617" "10" "96" "0" "96" "0" "c.96G>A" "r.(?)" "p.(Ser32=)" ""
"0000890130" "00025617" "30" "303" "0" "303" "0" "c.303C>T" "r.(?)" "p.(Asn101=)" ""
"0000890131" "00025617" "30" "375" "0" "375" "0" "c.375G>T" "r.(?)" "p.(Thr125=)" ""
"0000890132" "00025617" "50" "488" "0" "488" "0" "c.488G>C" "r.(?)" "p.(Gly163Ala)" ""
"0000890133" "00025617" "50" "913" "0" "913" "0" "c.913G>A" "r.(?)" "p.(Gly305Ser)" ""
"0000890134" "00025617" "30" "1147" "0" "1147" "0" "c.1147C>T" "r.(?)" "p.(Leu383=)" ""
"0000890135" "00025617" "30" "1212" "0" "1212" "0" "c.1212G>A" "r.(?)" "p.(Gly404=)" ""
"0000890141" "00025617" "30" "2595" "0" "2595" "0" "c.2595G>T" "r.(?)" "p.(Leu865=)" ""
"0000890142" "00025617" "30" "2829" "0" "2829" "0" "c.2829G>A" "r.(?)" "p.(Pro943=)" ""
"0000890143" "00025617" "70" "3028" "-1" "3028" "-1" "c.3028-1G>C" "r.spl?" "p.?" ""
"0000890144" "00025617" "50" "3538" "0" "3538" "0" "c.3538G>A" "r.(?)" "p.(Val1180Met)" ""
"0000890147" "00025617" "50" "4195" "0" "4195" "0" "c.4195G>T" "r.(?)" "p.(Val1399Phe)" ""
"0000890150" "00025617" "50" "4643" "0" "4643" "0" "c.4643G>T" "r.(?)" "p.(Cys1548Phe)" ""
"0000896573" "00025617" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Met)" ""
"0000896744" "00025617" "70" "874" "0" "874" "0" "c.874C>G" "r.(?)" "p.(Gln292Glu)" ""
"0000913689" "00025617" "30" "91" "4" "91" "4" "c.91+4G>A" "r.spl?" "p.?" ""
"0000913693" "00025617" "50" "1139" "0" "1139" "0" "c.1139A>G" "r.(?)" "p.(Tyr380Cys)" ""
"0000913696" "00025617" "50" "3436" "0" "3436" "0" "c.3436C>T" "r.(?)" "p.(Arg1146Cys)" ""
"0000922746" "00025617" "50" "4268" "0" "4268" "0" "c.4268C>T" "r.(?)" "p.(Pro1423Leu)" ""
"0000925491" "00025617" "30" "1393" "0" "1393" "0" "c.1393G>A" "r.(?)" "p.(Ala465Thr)" ""
"0000925492" "00025617" "30" "1584" "6" "1584" "6" "c.1584+6G>C" "r.(=)" "p.(=)" ""
"0000925495" "00025617" "50" "4609" "0" "4609" "0" "c.4609G>A" "r.(?)" "p.(Ala1537Thr)" ""
"0000927711" "00025617" "50" "1910" "0" "1910" "0" "c.1910T>C" "r.(?)" "p.(Met637Thr)" ""
"0000929963" "00025617" "30" "16" "0" "16" "0" "c.16C>A" "r.(?)" "p.(Pro6Thr)" ""
"0000929964" "00025617" "50" "590" "0" "590" "0" "c.590C>G" "r.(?)" "p.(Pro197Arg)" ""
"0000929965" "00025617" "70" "860" "0" "860" "0" "c.860T>C" "r.(?)" "p.(Leu287Pro)" ""
"0000929966" "00025617" "30" "1299" "0" "1299" "0" "c.1299C>T" "r.(?)" "p.(Thr433=)" ""
"0000929967" "00025617" "30" "1585" "-76" "1585" "-76" "c.1585-76C>T" "r.(=)" "p.(=)" ""
"0000929968" "00025617" "30" "1801" "272" "1801" "272" "c.1801+272G>A" "r.(=)" "p.(=)" ""
"0000929969" "00025617" "50" "1888" "0" "1888" "0" "c.1888G>A" "r.(?)" "p.(Gly630Ser)" ""
"0000929970" "00025617" "30" "3428" "-178" "3428" "-178" "c.3428-178G>A" "r.(=)" "p.(=)" ""
"0000929971" "00025617" "50" "4036" "0" "4036" "0" "c.4036G>A" "r.(?)" "p.(Gly1346Ser)" ""
"0000929972" "00025617" "50" "4285" "0" "4285" "0" "c.4285G>T" "r.(?)" "p.(Gly1429Trp)" ""
"0000933703" "00025617" "90" "724" "0" "724" "0" "c.724G>A" "r.(?)" "p.(Ala242Thr)" ""
"0000949775" "00025617" "30" "384" "0" "384" "0" "c.384G>A" "r.(?)" "p.(Glu128=)" ""
"0000949776" "00025617" "50" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Asp203Asn)" ""
"0000949777" "00025617" "10" "686" "13" "686" "13" "c.686+13G>A" "r.(=)" "p.(=)" ""
"0000949778" "00025617" "50" "1240" "0" "1240" "0" "c.1240G>A" "r.(?)" "p.(Glu414Lys)" ""
"0000949782" "00025617" "50" "3343" "0" "3343" "0" "c.3343G>A" "r.(?)" "p.(Val1115Met)" ""
"0000949783" "00025617" "30" "4293" "0" "4293" "0" "c.4293G>A" "r.(?)" "p.(Pro1431=)" ""
"0000949784" "00025617" "50" "4303" "0" "4303" "0" "c.4303C>T" "r.(?)" "p.(Leu1435Phe)" ""
"0000949785" "00025617" "30" "4317" "0" "4317" "0" "c.4317C>T" "r.(?)" "p.(Ala1439=)" ""
"0000949786" "00025617" "50" "4453" "0" "4453" "0" "c.4453A>G" "r.(?)" "p.(Ser1485Gly)" ""
"0000953901" "00025617" "70" "3833" "0" "3833" "0" "c.3833G>A" "r.(?)" "p.(Trp1278Ter)" ""
"0000954051" "00025617" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Asp203Asn)" ""
"0000966534" "00025617" "30" "884" "-22" "884" "-22" "c.884-22C>T" "r.(=)" "p.(=)" ""
"0000966535" "00025617" "30" "1310" "0" "1310" "0" "c.1310C>T" "r.(?)" "p.(Thr437Met)" ""
"0000966536" "00025617" "10" "1392" "0" "1392" "0" "c.1392C>T" "r.(?)" "p.(Ile464=)" ""
"0000966537" "00025617" "30" "2091" "244" "2091" "244" "c.2091+244T>C" "r.(=)" "p.(=)" ""
"0000966539" "00025617" "30" "2827" "14" "2827" "14" "c.2827+14G>C" "r.(=)" "p.(=)" ""
"0000966540" "00025617" "30" "3027" "236" "3027" "236" "c.3027+236G>T" "r.(=)" "p.(=)" ""
"0000966541" "00025617" "50" "3199" "0" "3199" "0" "c.3199G>A" "r.(?)" "p.(Asp1067Asn)" ""
"0000966543" "00025617" "50" "3919" "0" "3919" "0" "c.3919C>T" "r.(?)" "p.(Arg1307Trp)" ""
"0000966544" "00025617" "50" "4610" "0" "4610" "0" "c.4610C>T" "r.(?)" "p.(Ala1537Val)" ""
"0000979806" "00025617" "50" "52" "0" "60" "0" "c.52_60dup" "r.(?)" "p.(Leu18_Leu20dup)" ""
"0000979809" "00025617" "50" "575" "0" "575" "0" "c.575C>G" "r.(?)" "p.(Ser192Trp)" ""
"0000979810" "00025617" "30" "1005" "0" "1005" "0" "c.1005G>A" "r.(?)" "p.(Thr335=)" ""
"0000979812" "00025617" "70" "1135" "0" "1135" "0" "c.1135G>A" "r.(?)" "p.(Asp379Asn)" ""
"0000979814" "00025617" "50" "1264" "0" "1264" "0" "c.1264G>T" "r.(?)" "p.(Ala422Ser)" ""
"0000979815" "00025617" "50" "1564" "0" "1564" "0" "c.1564G>A" "r.(?)" "p.(Ala522Thr)" ""
"0000979816" "00025617" "30" "1584" "6" "1584" "6" "c.1584+6G>C" "r.(=)" "p.(=)" ""
"0000979817" "00025617" "30" "1584" "54" "1584" "54" "c.1584+54G>A" "r.(=)" "p.(=)" ""
"0000979818" "00025617" "30" "1585" "-98" "1585" "-98" "c.1585-98G>A" "r.(=)" "p.(=)" ""
"0000979820" "00025617" "50" "2173" "0" "2173" "0" "c.2173G>A" "r.(?)" "p.(Val725Ile)" ""
"0000979821" "00025617" "30" "2724" "0" "2724" "0" "c.2724C>G" "r.(?)" "p.(His908Gln)" ""
"0000979822" "00025617" "50" "2730" "0" "2730" "0" "c.2730C>A" "r.(?)" "p.(Asn910Lys)" ""
"0000979826" "00025617" "50" "3767" "0" "3767" "0" "c.3767C>T" "r.(?)" "p.(Pro1256Leu)" ""
"0000979827" "00025617" "50" "3871" "0" "3871" "0" "c.3871G>A" "r.(?)" "p.(Asp1291Asn)" ""
"0000979828" "00025617" "30" "4195" "0" "4195" "0" "c.4195G>A" "r.(?)" "p.(Val1399Ile)" ""
"0000979829" "00025617" "50" "4226" "0" "4226" "0" "c.4226G>A" "r.(?)" "p.(Arg1409His)" ""
"0000979830" "00025617" "30" "4489" "-1035" "4489" "-1035" "c.4489-1035G>A" "r.(=)" "p.(=)" ""
"0000999403" "00025617" "30" "189" "0" "189" "0" "c.189G>A" "r.(?)" "p.(Glu63=)" ""
"0000999404" "00025617" "50" "244" "0" "244" "0" "c.244G>A" "r.(?)" "p.(Val82Met)" ""
"0000999405" "00025617" "50" "746" "0" "746" "0" "c.746C>T" "r.(?)" "p.(Thr249Ile)" ""
"0000999406" "00025617" "50" "796" "0" "796" "0" "c.796C>T" "r.(?)" "p.(Arg266Cys)" ""
"0000999407" "00025617" "50" "1183" "0" "1183" "0" "c.1183C>T" "r.(?)" "p.(Arg395Trp)" ""
"0000999410" "00025617" "50" "2445" "0" "2445" "0" "c.2445C>A" "r.(?)" "p.(Asp815Glu)" ""
"0000999411" "00025617" "50" "2569" "0" "2569" "0" "c.2569T>C" "r.(?)" "p.(Tyr857His)" ""
"0000999413" "00025617" "30" "2935" "0" "2935" "0" "c.2935G>A" "r.(?)" "p.(Val979Ile)" ""
"0000999414" "00025617" "90" "3122" "0" "3122" "0" "c.3122C>T" "r.(?)" "p.(Thr1041Met)" ""
"0000999417" "00025617" "30" "3351" "0" "3351" "0" "c.3351G>C" "r.(?)" "p.(Leu1117=)" ""
"0000999418" "00025617" "50" "4162" "0" "4162" "0" "c.4162G>A" "r.(?)" "p.(Gly1388Arg)" ""
"0000999419" "00025617" "30" "4266" "0" "4266" "0" "c.4266C>G" "r.(?)" "p.(Phe1422Leu)" ""
"0001014870" "00025617" "30" "686" "13" "686" "13" "c.686+13G>A" "r.(=)" "p.(=)" ""
"0001014871" "00025617" "50" "1364" "0" "1364" "0" "c.1364C>T" "r.(?)" "p.(Ser455Leu)" ""
"0001014874" "00025617" "50" "3196" "0" "3196" "0" "c.3196C>T" "r.(?)" "p.(Arg1066Cys)" ""
"0001014875" "00025617" "50" "3920" "0" "3920" "0" "c.3920G>A" "r.(?)" "p.(Arg1307Gln)" ""
"0001014876" "00025617" "50" "4258" "0" "4258" "0" "c.4258G>A" "r.(?)" "p.(Gly1420Arg)" ""
"0001026064" "00025617" "30" "129" "0" "129" "0" "c.129A>T" "r.(?)" "p.(Val43=)" ""
"0001026065" "00025617" "30" "828" "0" "828" "0" "c.828T>C" "r.(?)" "p.(Ser276=)" ""
"0001026066" "00025617" "30" "849" "0" "849" "0" "c.849C>T" "r.(?)" "p.(Asp283=)" ""
"0001026067" "00025617" "50" "872" "0" "872" "0" "c.872G>A" "r.(?)" "p.(Arg291Gln)" ""
"0001026068" "00025617" "70" "1042" "0" "1042" "0" "c.1042C>T" "r.(?)" "p.(Arg348Trp)" ""
"0001026069" "00025617" "50" "1413" "-10" "1413" "-10" "c.1413-10T>G" "r.(=)" "p.(=)" ""
"0001026071" "00025617" "50" "2378" "0" "2378" "0" "c.2378G>A" "r.(?)" "p.(Gly793Glu)" ""
"0001026074" "00025617" "30" "4293" "0" "4293" "0" "c.4293G>A" "r.(?)" "p.(Pro1431=)" ""
"0001038685" "00025617" "50" "43" "0" "44" "0" "c.43_44insCGC" "r.(?)" "p.(Leu14_Leu15insPro)" ""
"0001038686" "00025617" "30" "91" "158" "91" "158" "c.91+158G>A" "r.(=)" "p.(=)" ""
"0001038687" "00025617" "50" "424" "0" "424" "0" "c.424C>T" "r.(?)" "p.(Arg142Trp)" ""
"0001038689" "00025617" "30" "1002" "0" "1002" "0" "c.1002G>A" "r.(?)" "p.(Arg334=)" ""
"0001038690" "00025617" "50" "1680" "0" "1680" "0" "c.1680G>T" "r.(?)" "p.(Trp560Cys)" ""
"0001038691" "00025617" "30" "1801" "599" "1801" "599" "c.1801+599G>A" "r.(=)" "p.(=)" ""
"0001038692" "00025617" "50" "2057" "0" "2057" "0" "c.2057A>G" "r.(?)" "p.(Asn686Ser)" ""
"0001038693" "00025617" "30" "2504" "-307" "2504" "-307" "c.2504-307G>T" "r.(=)" "p.(=)" ""
"0001038694" "00025617" "50" "2771" "0" "2771" "0" "c.2771A>T" "r.(?)" "p.(His924Leu)" ""
"0001038695" "00025617" "30" "2828" "-179" "2828" "-179" "c.2828-179G>A" "r.(=)" "p.(=)" ""
"0001038696" "00025617" "50" "3094" "0" "3094" "0" "c.3094G>A" "r.(?)" "p.(Asp1032Asn)" ""
"0001038697" "00025617" "50" "3197" "0" "3197" "0" "c.3197G>A" "r.(?)" "p.(Arg1066His)" ""
"0001038699" "00025617" "50" "3656" "0" "3656" "0" "c.3656G>A" "r.(?)" "p.(Arg1219His)" ""
"0001038701" "00025617" "50" "4247" "0" "4247" "0" "c.4247C>T" "r.(?)" "p.(Ala1416Val)" ""
"0001038702" "00025617" "50" "4391" "0" "4391" "0" "c.4391T>C" "r.(?)" "p.(Met1464Thr)" ""
"0001038703" "00025617" "50" "4466" "0" "4466" "0" "c.4466C>T" "r.(?)" "p.(Thr1489Met)" ""
"0001038704" "00025617" "50" "4814" "0" "4814" "0" "c.4814C>T" "r.(?)" "p.(Pro1605Leu)" ""
"0001048331" "00025617" "90" "3428" "-2" "3428" "-2" "c.3428-2del" "r.spl" "p.?" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 503
"{{screeningid}}" "{{variantid}}"
"0000100491" "0000735183"
"0000108056" "0000173881"
"0000108056" "0000173882"
"0000108057" "0000173883"
"0000108058" "0000173884"
"0000108059" "0000173885"
"0000108060" "0000173886"
"0000108061" "0000173887"
"0000108062" "0000173888"
"0000108063" "0000173889"
"0000108064" "0000173890"
"0000108065" "0000173891"
"0000108065" "0000173892"
"0000108066" "0000173893"
"0000108067" "0000173894"
"0000108071" "0000173901"
"0000108071" "0000173902"
"0000108075" "0000173906"
"0000108076" "0000173907"
"0000108076" "0000173908"
"0000108077" "0000173909"
"0000108077" "0000173910"
"0000108078" "0000173911"
"0000108078" "0000173912"
"0000108079" "0000173913"
"0000108079" "0000173914"
"0000108080" "0000173915"
"0000108081" "0000173917"
"0000108081" "0000173918"
"0000108082" "0000173919"
"0000108082" "0000173920"
"0000108083" "0000173921"
"0000108083" "0000173922"
"0000108084" "0000173923"
"0000108085" "0000173924"
"0000108086" "0000173925"
"0000108087" "0000173926"
"0000108088" "0000173927"
"0000108089" "0000173928"
"0000108089" "0000173929"
"0000108089" "0000173930"
"0000108089" "0000173931"
"0000108089" "0000173932"
"0000108089" "0000173933"
"0000108089" "0000173934"
"0000108090" "0000173935"
"0000108090" "0000173936"
"0000108090" "0000173937"
"0000108090" "0000173938"
"0000108091" "0000173939"
"0000108091" "0000173940"
"0000108091" "0000173941"
"0000108091" "0000173942"
"0000108092" "0000173943"
"0000108092" "0000173944"
"0000108092" "0000173945"
"0000108092" "0000173946"
"0000108093" "0000173947"
"0000108093" "0000173948"
"0000108094" "0000173949"
"0000108094" "0000173950"
"0000108095" "0000173951"
"0000108096" "0000173952"
"0000108097" "0000173953"
"0000108098" "0000173954"
"0000108099" "0000173955"
"0000108100" "0000173956"
"0000108101" "0000173957"
"0000108102" "0000173958"
"0000108103" "0000173959"
"0000108104" "0000173960"
"0000108105" "0000173961"
"0000108106" "0000173962"
"0000108107" "0000173963"
"0000108108" "0000173964"
"0000108109" "0000173965"
"0000108110" "0000173966"
"0000108111" "0000173967"
"0000108112" "0000173968"
"0000108113" "0000173969"
"0000108114" "0000173970"
"0000108115" "0000173971"
"0000108116" "0000173972"
"0000108117" "0000173973"
"0000108118" "0000173974"
"0000108119" "0000173975"
"0000108120" "0000173976"
"0000108121" "0000173977"
"0000108122" "0000173978"
"0000108123" "0000173979"
"0000108124" "0000173980"
"0000108125" "0000173981"
"0000108126" "0000173982"
"0000108127" "0000173983"
"0000108128" "0000173984"
"0000108129" "0000173985"
"0000108130" "0000173986"
"0000108131" "0000173987"
"0000108132" "0000173988"
"0000108133" "0000173989"
"0000108134" "0000173990"
"0000108135" "0000173991"
"0000108135" "0000173992"
"0000108136" "0000173993"
"0000108137" "0000173994"
"0000108137" "0000173995"
"0000108138" "0000173996"
"0000108139" "0000173997"
"0000108139" "0000173998"
"0000108140" "0000173999"
"0000108140" "0000174000"
"0000108141" "0000174001"
"0000108141" "0000174002"
"0000108142" "0000174003"
"0000108142" "0000174004"
"0000108143" "0000174005"
"0000108143" "0000174006"
"0000108144" "0000174007"
"0000108144" "0000174008"
"0000108145" "0000174009"
"0000108145" "0000174010"
"0000108146" "0000174011"
"0000108146" "0000174012"
"0000108147" "0000174013"
"0000108148" "0000174014"
"0000108148" "0000174015"
"0000108149" "0000174016"
"0000108149" "0000174017"
"0000108150" "0000174018"
"0000108151" "0000174019"
"0000108151" "0000174020"
"0000108153" "0000174023"
"0000108153" "0000174024"
"0000108154" "0000174025"
"0000108155" "0000174026"
"0000108157" "0000174029"
"0000108157" "0000174030"
"0000108158" "0000174031"
"0000108158" "0000174032"
"0000108159" "0000174033"
"0000108159" "0000174034"
"0000108160" "0000174035"
"0000108160" "0000174036"
"0000108161" "0000174037"
"0000108161" "0000174038"
"0000108162" "0000174039"
"0000108162" "0000174040"
"0000108163" "0000174041"
"0000108163" "0000174042"
"0000108163" "0000174043"
"0000108164" "0000174044"
"0000108164" "0000174045"
"0000108165" "0000174046"
"0000108166" "0000174047"
"0000108167" "0000174048"
"0000108168" "0000174049"
"0000108169" "0000174050"
"0000108170" "0000174051"
"0000108171" "0000174052"
"0000108172" "0000174053"
"0000108173" "0000174054"
"0000108174" "0000174055"
"0000108175" "0000174056"
"0000108176" "0000174057"
"0000108177" "0000174058"
"0000108178" "0000174059"
"0000108179" "0000174060"
"0000108180" "0000174061"
"0000108181" "0000174062"
"0000108182" "0000174063"
"0000108183" "0000174064"
"0000144621" "0000235424"
"0000144621" "0000235425"
"0000272530" "0000626458"
"0000272530" "0000626459"
"0000274322" "0000628278"
"0000274322" "0000628380"
"0000275372" "0000629372"
"0000275374" "0000629373"
"0000275375" "0000629374"
"0000275376" "0000629375"
"0000275377" "0000629376"
"0000275377" "0000629377"
"0000275379" "0000629378"
"0000275380" "0000629379"
"0000275381" "0000629380"
"0000275382" "0000629381"
"0000275383" "0000629382"
"0000275384" "0000629383"
"0000275385" "0000629384"
"0000275432" "0000629436"
"0000275432" "0000629437"
"0000275435" "0000629440"
"0000275436" "0000629441"
"0000275437" "0000629442"
"0000275438" "0000629443"
"0000275439" "0000629444"
"0000275440" "0000629445"
"0000275441" "0000629446"
"0000275475" "0000629493"
"0000275612" "0000629681"
"0000275613" "0000629682"
"0000332531" "0000729811"
"0000333479" "0000731132"
"0000333479" "0000731133"
"0000333515" "0000731188"
"0000333515" "0000731206"
"0000333516" "0000731189"
"0000333517" "0000731190"
"0000333518" "0000731191"
"0000333519" "0000731192"
"0000333520" "0000731193"
"0000333521" "0000731194"
"0000333522" "0000731195"
"0000333528" "0000731201"
"0000333529" "0000731202"
"0000334598" "0000732529"
"0000334600" "0000732531"
"0000334652" "0000732607"
"0000336124" "0000735175"
"0000336434" "0000735809"
"0000336435" "0000735810"
"0000336436" "0000735811"
"0000336438" "0000735813"
"0000336440" "0000735815"
"0000336442" "0000735817"
"0000360210" "0000760070"
"0000360287" "0000760179"
"0000360287" "0000760434"
"0000364830" "0000765772"
"0000364868" "0000765810"
"0000365060" "0000766012"
"0000365061" "0000766013"
"0000365062" "0000766014"
"0000365063" "0000766015"
"0000365066" "0000766018"
"0000365067" "0000766019"
"0000365071" "0000766023"
"0000373752" "0000783993"
"0000373857" "0000784617"
"0000373903" "0000784613"
"0000374660" "0000785473"
"0000374661" "0000785474"
"0000374662" "0000785475"
"0000374663" "0000785476"
"0000374664" "0000785477"
"0000374665" "0000785478"
"0000374666" "0000785479"
"0000374667" "0000785480"
"0000374668" "0000785481"
"0000374669" "0000785482"
"0000374670" "0000785483"
"0000374671" "0000785484"
"0000374672" "0000785485"
"0000374672" "0000785512"
"0000374673" "0000785486"
"0000374673" "0000785513"
"0000374674" "0000785487"
"0000374674" "0000785514"
"0000374675" "0000785488"
"0000374675" "0000785515"
"0000374676" "0000785489"
"0000374676" "0000785516"
"0000374697" "0000785517"
"0000374698" "0000785518"
"0000375189" "0000786521"
"0000376610" "0000788383"
"0000376623" "0000788455"
"0000377726" "0000790151"
"0000377727" "0000790152"
"0000381005" "0000794271"
"0000381489" "0000794949"
"0000381490" "0000794950"
"0000381490" "0000794951"
"0000381491" "0000794952"
"0000381492" "0000794953"
"0000381493" "0000794954"
"0000381494" "0000794955"
"0000381495" "0000794956"
"0000381962" "0000795580"
"0000381963" "0000795581"
"0000381964" "0000795582"
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