### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = P3H1) # 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}}" "P3H1" "prolyl 3-hydroxylase 1" "1" "p34.2" "unknown" "NG_008123.1" "UD_139341668397" "" "https://www.LOVD.nl/P3H1" "Osteogenesis Imperfecta & Ehlers-Danlos syndrome variant databases \r\nOsteogenesis Imperfecta Federation Europe (OIFE) " "1" "19316" "64175" "610339" "1" "1" "1" "1" "

The symbol and name for this gene were previously LEPRE1 and leucine proline-enriched proteoglycan (leprecan) 1; the changes to the gene symbol and name were made in December 2014.

\r\nEstablishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.\r\nThis database is supported by Osteogenesis Imperfecta Federation Europe (OIFE)" "" "g" "http://databases.lovd.nl/shared/refseq/P3H1_codingDNA.html" "1" "" "
Osteogenesis Imperfecta Variant Database\r\n
\r\n\r\n
" "-1" "" "-1" "00002" "2008-06-25 00:00:00" "00085" "2022-04-05 13:04:53" "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}}" "00000180" "P3H1" "transcript variant 1" "001" "NM_022356.3" "" "NP_001139761.1" "" "" "" "-113" "2573" "2211" "43232755" "43212006" "00002" "2012-05-11 13:12:21" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00636" "OI3" "osteogenesis imperfecta, type III (OI3)" "AD" "259420" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-05-16 21:55:28" "02992" "OI8" "osteogenesis imperfecta type VIII (OI8)" "AR" "610915" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-05-16 21:52:18" "03752" "OI13" "osteogenesis imperfecta, type XIII (OI13)" "AR" "614856" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-05-12 13:22:32" "05296" "OI" "osteogenesis imperfecta" "" "" "" "" "" "00006" "2017-06-26 22:59:16" "00006" "2025-09-23 21:54:31" "05427" "ADPKD" "kidney, polycystic, disease, autosomal dominant (ADPKD)" "" "" "" "" "" "00006" "2018-05-08 22:37:08" "" "" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "05734" "BRKS" "Bruck syndrome (BRKS)" "" "" "" "" "" "00006" "2020-04-30 17:10:30" "00006" "2021-12-10 21:51:32" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "P3H1" "02992" "P3H1" "05296" ## Individuals ## Do not remove or alter this header ## ## Count = 155 "{{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}}" "00000039" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00080910" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "no information from parents" "" "" "" "" "0" "" "" "" "" "00289839" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289840" "" "" "" "251" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304202" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00327447" "" "" "" "1" "" "00006" "{PMID:Demir 2021:33470886}" "analysis 43 OI patients" "M" "" "Turkey" "" "0" "" "" "" "B31" "00327448" "" "" "" "1" "" "00006" "{PMID:Demir 2021:33470886}" "analysis 43 OI patients" "M" "" "Turkey" "" "0" "" "" "" "B32" "00331499" "" "" "" "2" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 2 affected (2F)" "F" "yes" "" "" "0" "" "" "Arab" "14DG2214 , 14DG2217" "00331500" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "M" "yes" "" "" "0" "" "" "Arab" "11DG1523" "00331501" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "F" "yes" "" "" "0" "" "" "Arab" "13DG1116" "00331502" "" "" "" "3" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 3 affected (F, 2M)" "F;M" "yes" "" "" "0" "" "" "Arab" "14DG0847 ,14DG0848,14DG0849" "00331503" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family" "M" "yes" "" "" "0" "" "" "Arab" "15DG0559" "00331504" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family" "M" "yes" "" "" "0" "" "" "Arab" "17DG0807" "00373005" "" "" "" "1" "" "00085" "{PMID:Caparros-Martin 2016:28116328}" "" "" "" "Egypt" "" "0" "" "" "" "No. 302" "00373006" "" "" "" "1" "" "00085" "{PMID:Mohd Nawawi 2018:29807018}" "" "" "" "Malaysia" "" "0" "" "" "" "OI 10" "00373007" "" "" "" "1" "" "00085" "{PMID:Mohd Nawawi 2018:29807018}" "" "" "" "Malaysia" "" "0" "" "" "" "OI 14" "00373008" "" "" "" "1" "" "03704" "{PMID:Pepin 2013:24498616}" "" "" "" "United States" "" "0" "" "" "African-American" "31" "00373009" "" "" "" "1" "" "00085" "{PMID:Huang 2017:27864101}" "" "" "" "China" "" "0" "" "" "" "" "00373010" "" "" "" "1" "" "00085" "{PMID:Rauch 2014:25086671}" "" "" "" "" "" "0" "" "" "" "" "00373011" "" "" "" "1" "" "03704" "{PMID:Baldridge 2008:18566967}" "" "" "" "Ireland" "" "0" "" "" "Irish Traveller" "Proband 4" "00373012" "" "" "" "1" "" "03704" "{PMID:Baldridge 2008:18566967}" "" "" "" "Ireland" "" "0" "" "" "Irish Traveller" "Proband 5" "00373013" "" "" "" "1" "" "03704" "{PMID:Baldridge 2008:18566967}" "" "" "" "Ireland" "" "0" "" "" "Irish Traveller" "Proband 6" "00373014" "" "" "" "1" "" "03704" "{PMID:Pepin 2013:24498616}" "" "" "" "" "" "0" "" "" "" "30" "00373015" "" "" "" "1" "" "03704" "{PMID:Baldridge 2008:18566967}" "This patient was subsequently presented as patient 1 by {PMID24498616:Pepin et al., 2013}." "" "" "United States" "" "0" "" "" "Native American" "Proband 7" "00373016" "" "" "" "1" "" "00085" "{PMID:van Dijk 2010:20946018}" "" "" "yes" "Turkey" "" "0" "" "" "" "VI:1 & VI:3" "00373017" "" "" "" "1" "" "00085" "{PMID:Popkov, 2018:30269195}" "" "" "" "" "" "0" "" "" "" "" "00373018" "" "" "" "1" "" "03704" "{PMID:Pepin 2013:24498616}" "" "" "" "Somalia" "" "0" "" "" "" "2" "00373019" "" "" "" "1" "" "00085" "{PMID:Takagi 2012:22615817}" "" "" "" "" "" "0" "" "" "" "" "00373020" "" "" "" "1" "" "03704" "{PMID:Pepin 2013:24498616}" "" "" "" "" "" "0" "" "" "Arab" "3" "00373021" "" "" "" "1" "" "03704" "{PMID:Pepin 2013:24498616}" "" "" "" "United States" "" "0" "" "" "African-American" "32" "00373022" "" "" "" "1" "" "00085" "{PMID:Willaert 2008:19088120}" "The sister (Proband 2-2) of this male proband is also homozygous for the same mutation." "" "" "Turkey" "" "0" "" "" "" "Proband 2-1" "00373023" "" "" "" "1" "" "00085" "{PMID:Cabral 2007:17277775}" "The patient has also been described as Proband 8 by {PMID:Chang et al., 2010:19846465}." "" "" "United States" "" "0" "" "" "African-American;Virgin Islands (US)" "Proband 4" "00373024" "" "" "" "1" "" "03704" "{PMID:Baldridge 2008:18566967}" "This patient was subsequently presented as patient 33 by {PMID24498616:Pepin et al., 2013} though the Proband number is mis-identified as 5, rather than as 15." "" "" "United States" "" "0" "" "" "African-American" "Proband 15" "00373025" "" "" "" "1" "" "03704" "{PMID:Pepin 2013:24498616}" "" "" "" "United States" "" "0" "" "" "African-American" "34" "00373026" "" "" "" "1" "" "00085" "{PMID:Moul 2013:23301918}" "" "" "" "" "" "0" "" "" "African-Colombian;African-American" "" "00373027" "" "" "" "1" "" "00085" "{PMID:Mrosk 2018:29499418}" "" "" "" "India" "" "0" "" "" "" "P59" "00373028" "" "" "" "1" "" "03864" "{PMID:Caparrós-Martin 2013:23613367}" "younger sister (AN_002112) also harbours the same variants." "" "" "Spain" "" "0" "" "" "" "Fam2Pat2" "00373029" "" "" "" "1" "" "03704" "{PMID:Baldridge 2008:18566967}" "" "" "" "" "" "0" "" "" "Arab" "Proband 8" "00373030" "" "" "" "1" "" "00085" "{PMID:Mrosk 2018:29499418}" "" "" "" "India" "" "0" "" "" "" "P43" "00373031" "" "" "" "1" "" "03865" "" "" "" "" "" "" "0" "" "" "" "" "00373032" "" "" "" "1" "" "00085" "{PMID:Cabral 2007:17277775}" "" "" "" "Ghana" "" "0" "" "" "" "Proband 1" "00373033" "" "" "" "1" "" "00085" "{PMID:Cabral 2007:17277775}" "The probands sibling (2-2, terminated at 19 weeks) is described as Proband 7 by {PMID:Chang et al., 2010:19846465}." "" "" "United States" "" "0" "" "" "African-American" "Proband 2" "00373034" "" "" "" "1" "" "00085" "{PMID:Cabral 2007:17277775}" "" "" "" "Nigeria" "" "0" "" "" "" "Proband 3" "00373035" "" "" "" "1" "" "03704" "{PMID:Baldridge 2008:18566967}" "This patient was subsequently presented as patient 5 by {PMID24498616:Pepin et al., 2013}." "" "" "United States" "" "0" "" "" "African-American" "Proband 11" "00373036" "" "" "" "1" "" "03704" "{PMID:Baldridge 2008:18566967}" "This patient was subsequently presented as patient 6 by {PMID24498616:Pepin et al., 2013}." "" "" "United States" "" "0" "" "" "African-American" "Proband 12" "00373037" "" "" "" "1" "" "03704" "{PMID:Baldridge 2008:18566967}" "" "" "" "United States" "" "0" "" "" "African-American" "Proband 13" "00373038" "" "" "" "1" "" "03704" "{PMID:Baldridge 2008:18566967}" "This patient was subsequently presented as patient 13 by {PMID24498616:Pepin et al., 2013}." "" "" "United States" "" "0" "" "" "African-American" "Proband 14" "00373039" "" "" "" "1" "" "03704" "{PMID:Bodian 2009:18996919}" "" "" "" "United States" "" "0" "" "" "African-American?" "D1" "00373040" "" "" "" "1" "" "03704" "{PMID:Bodian 2009:18996919}" "" "" "" "United States" "" "0" "" "" "African-American?" "D3" "00373041" "" "" "" "1" "" "03704" "{PMID:Pyott 2011:21239989}" "" "" "" "" "" "0" "" "" "" "Family 46" "00373042" "" "" "" "1" "" "03704" "{PMID:Pepin 2013:24498616}" "" "" "" "United States" "" "0" "" "" "African-American" "4" "00373043" "" "" "" "1" "" "03704" "{PMID:Pepin 2013:24498616}" "" "" "" "United States" "" "0" "" "" "African-American" "7" "00373044" "" "" "" "1" "" "00085" "{PMID:Pepin 2013:24498616}" "" "" "" "United States" "" "0" "" "" "African-American" "8" "00373045" "" "" "" "1" "" "03704" "{PMID:Pepin 2013:24498616}" "" "" "" "United States" "" "0" "" "" "African-American" "9" "00373046" "" "" "" "1" "" "03704" "{PMID:Pepin 2013:24498616}" "" "" "" "United States" "" "0" "" "" "African-American" "10" "00373047" "" "" "" "1" "" "03704" "{PMID:Pepin 2013:24498616}" "" "" "" "Haiti" "" "0" "" "" "African" "11" "00373048" "" "" "" "1" "" "03704" "{PMID:Pepin 2013:24498616}" "" "" "" "United States" "" "0" "" "" "African-American" "12" "00373049" "" "" "" "1" "" "03704" "{PMID:Pepin 2013:24498616}" "" "" "" "United States" "" "0" "" "" "African-American" "14" "00373050" "" "" "" "1" "" "03704" "{PMID:Pepin 2013:24498616}" "" "" "" "United States" "" "0" "" "" "African-American" "15" "00373051" "" "" "" "1" "" "03704" "{PMID:Pepin 2013:24498616}" "" "" "" "United States" "" "0" "" "" "African-American" "36" "00373052" "" "" "" "1" "" "03704" "{PMID:Pepin 2013:24498616}" "" "" "" "" "" "0" "" "" "" "37" "00373053" "" "" "" "1" "" "03704" "{PMID:Pepin 2013:24498616}" "" "" "" "United States" "" "0" "" "" "African-American" "38" "00373054" "" "" "" "1" "" "03704" "{PMID:Pepin 2013:24498616}" "" "" "" "" "" "0" "" "" "Asian Indian" "39" "00373055" "" "" "" "1" "" "03704" "{PMID:Pepin 2013:24498616}" "" "" "" "United States" "" "0" "" "" "African-American" "40" "00373056" "" "" "" "1" "" "03704" "{PMID:Pepin 2013:24498616}" "" "" "" "United States" "" "0" "" "" "African-American" "41" "00373057" "" "" "" "1" "" "00085" "{PMID:Rauch 2014:25086671}" "" "" "" "" "" "0" "" "" "" "" "00373058" "" "" "" "1" "" "00085" "{PMID:Barbirato 2015:26634552}" "The proband is the son of cousin parents whose DNA was not available for testing." "" "" "" "" "0" "" "" "" "P1" "00373059" "" "" "" "1" "" "00085" "{PMID:Fratzl-Zelman 2016:27383115}" "" "" "" "United States" "" "0" "" "" "African-American" "Proband 4" "00373060" "" "" "" "1" "" "00085" "{PMID:Fratzl-Zelman 2016:27383115}" "" "" "" "Ghana" "" "0" "" "" "" "Proband 5" "00373061" "" "" "" "1" "" "00085" "{PMID:Fratzl-Zelman 2016:27383115}" "The proband died at 3 weeks of age." "" "" "Ghana" "" "0" "" "" "" "Proband 6" "00373062" "" "" "" "1" "" "01819" "" "The probands OI diagnosed sister also harbours the same homozygous mutation." "" "" "Palestine" "" "0" "" "" "" "" "00373063" "" "" "" "1" "" "03889" "" "Diagnosed prenatally via U/S with OI. 5 fractures at age 21 months: bilateral femur fractures at least twice, bilateral ulnae, bilateral humerus, and a questionable skull fracture. Currently, at age 14, is ambulatory and plays sports." "" "" "United States" "" "0" "" "" "African-American" "" "00373064" "" "" "" "1" "" "00085" "{PMID:Santana 2018:30246063}" "The phenotype is described as being moderately severe." "" "" "" "" "0" "" "" "" "" "00373065" "" "" "" "1" "" "00085" "{PMID:Barbirato 2015:26634552}" "The parents of the proband are reported not to be consanguineous. Only one P3H1 variant was detected in the proband in spite of all exons of P3H1 being sequenced." "" "" "" "" "0" "" "" "" "P2" "00373066" "" "" "" "1" "" "00085" "{PMID:Willaert 2008:19088120}" "" "" "" "Belgium" "" "0" "" "" "" "Proband 3" "00373067" "" "" "" "1" "" "03704" "{PMID:Pepin 2013:24498616}" "" "" "" "" "" "0" "" "" "Hispanic" "16" "00373068" "" "" "" "1" "" "03704" "{PMID:Pepin 2013:24498616}" "" "" "" "Italy" "" "0" "" "" "" "42" "00373069" "" "" "" "1" "" "03704" "{PMID:Pepin 2013:24498616}" "" "" "" "" "" "0" "" "" "" "43" "00373070" "" "" "" "1" "" "00085" "{PMID:Mrosk 2018:29499418}" "" "" "" "India" "" "0" "" "" "" "P39" "00373071" "" "" "" "1" "" "03704" "{PMID:Baldridge 2008:18566967}" "This patient was subsequently presented as patient 17 by {PMID24498616:Pepin et al., 2013}." "" "" "Canada" "" "0" "" "" "First Nations Canadian" "Proband 18" "00373072" "" "" "" "1" "" "03704" "{PMID:Baldridge 2008:18566967}" "This patient was subsequently presented as patient 20 by {PMID24498616:Pepin et al., 2013}." "" "" "Viet Nam" "" "0" "" "" "" "Proband 19" "00373073" "" "" "" "1" "" "03704" "{PMID:Pepin 2013:24498616}" "" "" "" "Viet Nam" "" "0" "" "" "" "18" "00373074" "" "" "" "1" "" "03704" "{PMID:Pepin 2013:24498616}" "" "" "" "Viet Nam" "" "0" "" "" "" "19" "00373075" "" "" "" "1" "" "03864" "{PMID:Caparrós-Martin 2013:23613367}" "" "" "" "Egypt" "" "0" "" "" "" "Family 1" "00373076" "" "" "" "1" "" "03704" "{PMID:Pepin 2013:24498616}" "" "" "" "" "" "0" "" "" "" "44" "00373077" "" "" "" "1" "" "03704" "{PMID:Pepin 2013:24498616}" "" "" "" "Lebanon" "" "0" "" "" "" "21" "00373078" "" "" "" "1" "" "03704" "{PMID:Pepin 2013:24498616}" "" "" "" "Finland" "" "0" "" "" "" "22" "00373079" "" "" "" "1" "" "00085" "{PMID:Mrosk 2018:29499418}" "The patient is described as having severe OI." "" "" "India" "" "0" "" "" "" "P7" "00373080" "" "" "" "1" "" "00085" "{PMID:Mrosk 2018:29499418}" "The patient was reported to be compound heterozygous, with both parents being carriers." "" "" "India" "" "0" "" "" "" "P9" "00373081" "" "" "" "1" "" "03704" "{PMID:Baldridge 2008:18566967}" "This patient was subsequently presented as patient 23 by {PMID24498616:Pepin et al., 2013}." "" "" "France" "" "0" "" "" "French-Canadian" "Proband 17" "00373082" "" "" "" "1" "" "00085" "{PMID:Fratzl-Zelman 2016:27383115}" "" "" "" "" "" "0" "" "" "white" "Proband 3" "00373083" "" "" "" "1" "" "00085" "{PMID:Willaert 2008:19088120}" "" "" "" "Lebanon" "" "0" "" "" "" "Proband 1" "00373084" "" "" "" "1" "" "03704" "{PMID:Baldridge 2008:18566967}" "This patient was subsequently presented as patient 24 by {PMID24498616:Pepin et al., 2013}." "" "" "" "" "0" "" "" "Asian Indian" "Proband 16" "00373085" "" "" "" "1" "" "00085" "{PMID:Chang 2010:19846465}" "This patient was subsequently described as Proband 2 by {PMID27383115: Fratzl-Zelman et al., 2016}." "" "" "Pakistan" "" "0" "" "" "" "Proband 5" "00373086" "" "" "" "1" "" "00085" "{PMID:Zhang 2011:21667357}" "" "" "" "China" "" "0" "" "" "Han" "Proband 1" "00373087" "" "" "" "1" "" "00085" "{PMID:Zhang 2011:21667357}" "" "" "" "China" "" "0" "" "" "Han" "Proband 2" "00373088" "" "" "" "1" "" "00085" "{PMID:Barbirato 2015:26634552}" "" "" "" "" "" "0" "" "" "" "" "00373089" "" "" "" "1" "" "00085" "" "" "" "" "" "" "0" "" "" "" "" "00373090" "" "" "" "1" "" "00085" "{PMID:Mrosk 2018:29499418}" "" "" "" "India" "" "0" "" "" "" "P42" "00373091" "" "" "" "1" "" "00085" "{PMID:Mrosk 2018:29499418}" "" "" "" "India" "" "0" "" "" "" "P42" "00373092" "" "" "" "1" "" "00085" "{PMID:Barbirato 2015:26634552}" "" "" "" "" "" "0" "" "" "" "" "00373093" "" "" "" "1" "" "00085" "{PMID:Cabral 2007:17277775}" "This patient has also been described as Proband 10 by {PMID:Baldridge et al., 2008:18566967} and the mutation confirmed. The patient has also been described as Proband 6 by {PMID:Chang et al., 2010:19846465}, as patient 25 by {PMID24498616:Pepin et al., 2013} and as Proband 1 by {PMID27383115: Fratzl-Zelman et al., 2016}." "" "" "Pakistan" "" "0" "" "" "" "Proband 5" "00373094" "" "" "" "1" "" "00085" "" "" "" "" "" "" "0" "" "" "" "" "00373095" "" "" "" "1" "" "00085" "" "The probands mother also has OI type I but she does not carru either of the probands variants." "" "" "" "" "0" "" "" "" "P4" "00373096" "" "" "" "1" "" "00085" "{PMID:Barbirato 2015:26634552}" "This common variant has been found in OI patients and in normal controls." "" "" "" "" "0" "" "" "" "" "00373097" "" "" "" "1" "" "00085" "{PMID:Scollo 2018:29329516}" "" "" "" "" "" "0" "" "" "" "" "00373098" "" "" "" "1" "" "00085" "{PMID:Mohd Nawawi 2018:29807018}" "" "" "" "Malaysia" "" "0" "" "" "" "OI 29" "00373099" "" "" "" "1" "" "03704" "{PMID:Pepin 2013:24498616}" "" "" "" "" "" "0" "" "" "Hispanic" "26" "00373100" "" "" "" "1" "" "00085" "{PMID:Scollo 2018:29329516}" "" "" "yes" "" "" "0" "" "" "" "" "00373101" "" "" "" "1" "" "00085" "{PMID:Barbirato 2015:26634552}" "This common variant has been found in OI patients and in normal controls." "" "" "" "" "0" "" "" "" "" "00373102" "" "" "" "1" "" "00085" "" "" "" "" "" "" "0" "" "" "" "" "00373103" "" "" "" "1" "" "03704" "{PMID:Pepin 2013:24498616}" "" "" "" "United States" "" "0" "" "" "African-American" "27" "00373104" "" "" "" "1" "" "00085" "{PMID:Barbirato 2015:26634552}" "The unaffected parents are probably non-consanguineous. The probands younger sister also has OI type III. Only one P3H1 variant was detected in the proband in spite of all exons of P3H1 being sequenced." "" "" "" "" "0" "" "" "" "P3" "00373105" "" "" "" "1" "" "03704" "{PMID:Baldridge 2008:18566967}" "This patient was subsequently presented as patient 29 by {PMID24498616:Pepin et al., 2013}." "" "" "" "" "0" "" "" "Arab" "Proband 9" "00373106" "" "" "" "1" "" "03704" "{PMID:Pepin 2013:24498616}" "" "" "" "Palestine" "" "0" "" "" "" "28" "00373107" "" "" "" "1" "" "00085" "{PMID:Chandler 2018:29595812}" "" "" "" "" "" "0" "" "" "" "Case 11" "00373108" "" "" "" "1" "" "00085" "{PMID:Barbirato 2015:26634552}" "" "" "" "" "" "0" "" "" "" "" "00373109" "" "" "" "1" "" "00085" "{PMID:Willaert 2008:19088120}" "" "" "" "Turkey" "" "0" "" "" "" "Proband 4" "00373110" "" "" "" "1" "" "00085" "{PMID:Barbirato 2015:26634552}" "This common variant has been found in OI patients and in normal controls." "" "" "" "" "0" "" "" "" "" "00373111" "" "" "" "1" "" "00085" "{PMID:Shaheen 2012:23054245}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "OI_F7" "00373112" "" "" "" "1" "" "00085" "" "" "" "" "" "" "0" "" "" "" "" "00397367" "" "" "" "1" "" "00006" "{PMID:Rauch 2014:25086671}" "" "" "" "Canada" "" "0" "" "" "" "PatV15" "00399146" "" "" "" "1" "" "03897" "" "" "F" "no" "Viet Nam" "" "0" "" "" "" "" "00399147" "" "" "" "1" "" "03897" "" "" "F" "no" "Viet Nam" "" "" "" "" "" "" "00431419" "" "" "" "1" "" "04465" "{PMID: de Souza 2020:33098264}" "" "F" "?" "Italy" ">28y" "" "" "" "" "patient" "00431780" "" "" "" "4" "" "04465" "{PMID:Kantaputra 2021:33737016}" "4 siblings with homozygotic mutation with heterozygotic parents." "F" "yes" "Thailand" ">16y" "" "" "" "Karen tribe family" "Pat1" "00431781" "" "" "00431780" "1" "" "04465" "{PMID:Kantaputra 2021:33737016}" "" "M" "yes" "Thailand" ">13y" "" "" "" "Karen tribe family" "Pat2" "00431782" "" "" "00431780" "1" "" "04465" "{PMID:Kantaputra 2021:33737016}" "" "M" "yes" "Thailand" ">12y" "" "" "" "Karen tribe family" "Pat3" "00431783" "" "" "00431780" "1" "" "04465" "{PMID:Kantaputra 2021:33737016}" "" "F" "yes" "Thailand" ">05y" "" "" "" "Karen tribe family" "Pat4" "00432477" "" "" "" "1" "" "04465" "{PMID:Nadyrshina 2022:35052464}" "" "M" "yes" "Russia" ">24y" "" "" "" "Bashkir ethnicy" "Pat39" "00434899" "" "" "" "2" "" "04465" "{PMID:Kantaputra 2023:36833249}" "" "F" "?" "Thailand" ">11y" "0" "" "" "Karen Descent" "Pat1" "00434905" "" "" "00434899" "1" "" "04465" "{PMID:Kantaputra 2023:36833249}" "" "F" "?" "Thailand" ">17y" "0" "" "" "Karen Descent" "Pat2" "00434906" "" "" "" "3" "" "04465" "{PMID:Kantaputra 2023:36833249}" "" "M" "?" "Thailand" ">13y" "0" "" "" "Karen Descent" "Pat3" "00434907" "" "" "00434906" "1" "" "04465" "{PMID:Kantaputra 2023:36833249}" "" "M" "?" "Thailand" ">10y" "0" "" "" "Karen Descent" "Pat4" "00434908" "" "" "00434906" "1" "" "04465" "{PMID:Kantaputra 2023:36833249}" "" "F" "?" "Thailand" ">09y" "0" "" "" "" "Pat5" "00434909" "" "" "" "1" "" "04465" "{PMID:Kantaputra 2023:36833249}" "" "F" "?" "Thailand" ">08y" "0" "" "" "Karen Descent" "Pat7" "00434934" "" "" "" "1" "" "04465" "{PMID:Kantaputra 2023:36833249}" "" "M" "?" "Thailand" ">05y" "0" "" "" "Karen Descent" "Pat6" "00434935" "" "" "" "1" "" "04465" "{PMID:Kantaputra 2023:36833249}" "" "M" "?" "Thailand" ">15y" "0" "" "" "Karen Descent" "Pat8" "00434936" "" "" "" "2" "" "04465" "{PMID:Kantaputra 2023:36833249}" "" "F" "?" "Thailand" ">11y" "0" "" "" "Karen Descent" "Pat9" "00434937" "" "" "00434936" "1" "" "04465" "{PMID:Kantaputra 2023:36833249}" "" "M" "?" "Thailand" ">08y" "0" "" "" "Karen Descent" "Pat10" "00434938" "" "" "" "1" "" "04465" "{PMID:Kantaputra 2023:36833249}" "" "M" "?" "Thailand" ">13y" "0" "" "" "Karen Descent" "Pat11" "00435013" "" "" "" "1" "" "04465" "{PMID:Kalayci 2023:36398383}" "" "?" "?" "Turkey" "00y00m" "0" "" "" "" "Pat9" "00435015" "" "" "" "1" "" "04465" "{PMID:Kalayci 2023:36398383}" "" "?" "?" "Turkey" "00y00m" "0" "" "" "" "Pat10" "00438624" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSC0099" "00466804" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat91" "00466805" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat92" "00466806" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat93" "00466807" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat94" "00466808" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat95" "00466809" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat96" "00466810" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat97" "00466811" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat98" "00466812" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat99" "00466813" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat100" "00466814" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat101" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 155 "{{individualid}}" "{{diseaseid}}" "00000039" "05427" "00080910" "02992" "00289839" "00198" "00289840" "00198" "00304202" "00198" "00327447" "05296" "00327448" "05296" "00331499" "05517" "00331500" "05517" "00331501" "05517" "00331502" "05517" "00331503" "05517" "00331504" "05517" "00373005" "05296" "00373006" "05296" "00373007" "05296" "00373008" "05296" "00373009" "05296" "00373010" "05296" "00373011" "05296" "00373012" "05296" "00373013" "05296" "00373014" "05296" "00373015" "05296" "00373016" "05296" "00373017" "05296" "00373018" "05296" "00373019" "05296" "00373020" "05296" "00373021" "05296" "00373022" "05296" "00373023" "05296" "00373024" "05296" "00373025" "05296" "00373026" "05296" "00373027" "05296" "00373028" "05734" "00373029" "05296" "00373030" "05296" "00373031" "05296" "00373032" "05296" "00373033" "05296" "00373034" "05296" "00373035" "05296" "00373036" "05296" "00373037" "05296" "00373038" "05296" "00373039" "05296" "00373040" "05296" "00373041" "05296" "00373042" "05296" "00373043" "05296" "00373044" "05296" "00373045" "05296" "00373046" "05296" "00373047" "05296" "00373048" "05296" "00373049" "05296" "00373050" "05296" "00373051" "05296" "00373052" "05296" "00373053" "05296" "00373054" "05296" "00373055" "05296" "00373056" "05296" "00373057" "05296" "00373058" "05296" "00373059" "05296" "00373060" "05296" "00373061" "05296" "00373062" "05296" "00373063" "05296" "00373064" "05296" "00373065" "05296" "00373066" "05296" "00373067" "05296" "00373068" "05296" "00373069" "05296" "00373070" "05296" "00373071" "05296" "00373072" "05296" "00373073" "05296" "00373074" "05296" "00373075" "05296" "00373076" "05296" "00373077" "05296" "00373078" "05296" "00373079" "05296" "00373080" "05296" "00373081" "05296" "00373082" "05296" "00373083" "05296" "00373084" "05296" "00373085" "05296" "00373086" "05296" "00373087" "05296" "00373088" "00198" "00373089" "00198" "00373090" "05296" "00373091" "05296" "00373092" "00198" "00373093" "05296" "00373094" "00198" "00373095" "05296" "00373096" "00198" "00373097" "05296" "00373098" "05296" "00373099" "05296" "00373100" "05296" "00373101" "00198" "00373102" "00198" "00373103" "05296" "00373104" "05296" "00373105" "05296" "00373106" "05296" "00373107" "05296" "00373108" "00198" "00373109" "05296" "00373110" "00198" "00373111" "05296" "00373112" "00198" "00397367" "05296" "00399146" "05296" "00399147" "05296" "00431419" "02992" "00431780" "02992" "00431781" "02992" "00431782" "02992" "00431783" "02992" "00432477" "03752" "00434899" "02992" "00434905" "02992" "00434906" "02992" "00434907" "02992" "00434908" "02992" "00434909" "02992" "00434934" "02992" "00434935" "02992" "00434936" "02992" "00434937" "02992" "00434938" "02992" "00435013" "00636" "00435015" "00636" "00438624" "06906" "00466804" "05296" "00466805" "05296" "00466806" "05296" "00466807" "05296" "00466808" "05296" "00466809" "05296" "00466810" "05296" "00466811" "05296" "00466812" "05296" "00466813" "05296" "00466814" "05296" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00636, 02992, 03752, 05296, 05427, 05517, 05734, 06906 ## Count = 151 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000060479" "02992" "00080910" "01758" "Familial, autosomal recessive" "" "Osteogenesis imperfecta, type VIII (OMIM:610915)" "" "" "" "" "" "" "" "" "" "" "" "0000245736" "05296" "00327447" "00006" "Unknown" "0y" "" "" "" "" "" "" "" "" "" "OI-8" "osteogenesis imperfecta" "" "0000245737" "05296" "00327448" "00006" "Unknown" "2y" "" "" "" "" "" "" "" "" "" "OI-8" "osteogenesis imperfecta" "" "0000249691" "05517" "00331499" "00000" "Familial, autosomal recessive" "" "Multiple prenatal fractures, Recurrent infections, Hypochromic anemia, Blue sclerae, Oste Yes" "" "" "" "" "" "" "" "" "Osteogenesis imperfecta and decreased bone density group" "skeletal dysplasia" "" "0000249692" "05517" "00331500" "00000" "Familial, autosomal recessive" "" "Recurrent fractures, Dentinogenesis imperfecta" "" "" "" "" "" "" "" "" "Osteogenesis imperfecta and decreased bone density group" "skeletal dysplasia" "" "0000249693" "05517" "00331501" "00000" "Familial, autosomal recessive" "" "Multiple prenatal fractures, Brachycephaly, Triangular face, Wormian bones, Osteopenia, Yes" "" "" "" "" "" "" "" "" "Osteogenesis imperfecta and decreased bone density group" "skeletal dysplasia" "" "0000249694" "05517" "00331502" "00000" "Familial, autosomal recessive" "" "Hypertelorism, Microganathia, Small anterior fontanelle, Joint hypermobility, Neonatal re Yes" "" "" "" "" "" "" "" "" "Osteogenesis imperfecta and decreased bone density group" "skeletal dysplasia" "" "0000249695" "05517" "00331503" "00000" "Familial, autosomal recessive" "" "Recurrent infections" "" "" "" "" "" "" "" "" "Osteogenesis imperfecta and decreased bone density group" "skeletal dysplasia" "" "0000249696" "05517" "00331504" "00000" "Familial, autosomal recessive" "" "Osteopenia, Pulmonary hypoplasia, Recurrent fractures" "" "" "" "" "" "" "" "" "Osteogenesis imperfecta and decreased bone density group" "skeletal dysplasia" "" "0000268281" "05296" "00373005" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI II" "" "0000268282" "05296" "00373006" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI IV" "" "0000268283" "05296" "00373007" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268284" "05296" "00373008" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268285" "05296" "00373009" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VIII" "" "0000268286" "05296" "00373010" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268287" "05296" "00373011" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268288" "05296" "00373012" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI II" "" "0000268289" "05296" "00373013" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI II/III" "" "0000268290" "05296" "00373014" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268291" "05296" "00373015" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI II" "" "0000268292" "05296" "00373016" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268293" "05296" "00373017" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VIII" "" "0000268294" "05296" "00373018" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268295" "05296" "00373019" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268296" "05296" "00373020" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268297" "05296" "00373021" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268298" "05296" "00373022" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI II/III" "" "0000268299" "05296" "00373023" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI II" "" "0000268300" "05296" "00373024" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI II" "" "0000268301" "05296" "00373025" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268302" "05296" "00373026" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VIII" "" "0000268303" "05296" "00373027" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268304" "05734" "00373028" "03864" "Unknown" "" "" "" "" "" "" "" "" "" "" "BRKS3" "Bruck syndrome" "" "0000268305" "05296" "00373029" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268306" "05296" "00373030" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268307" "05296" "00373031" "03865" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268308" "05296" "00373032" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI II" "" "0000268309" "05296" "00373033" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI II/III" "" "0000268310" "05296" "00373034" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268311" "05296" "00373035" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI II/III" "" "0000268312" "05296" "00373036" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI II/III" "" "0000268313" "05296" "00373037" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI II" "" "0000268314" "05296" "00373038" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI II/III" "" "0000268315" "05296" "00373039" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI II" "" "0000268316" "05296" "00373040" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI II" "" "0000268317" "05296" "00373041" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI II" "" "0000268318" "05296" "00373042" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268319" "05296" "00373043" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268320" "05296" "00373044" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268321" "05296" "00373045" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268322" "05296" "00373046" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268323" "05296" "00373047" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268324" "05296" "00373048" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268325" "05296" "00373049" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268326" "05296" "00373050" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268327" "05296" "00373051" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268328" "05296" "00373052" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268329" "05296" "00373053" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268330" "05296" "00373054" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268331" "05296" "00373055" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268332" "05296" "00373056" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268333" "05296" "00373057" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VIII" "" "0000268334" "05296" "00373058" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268335" "05296" "00373059" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VIII" "" "0000268336" "05296" "00373060" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VIII" "" "0000268337" "05296" "00373061" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VIII" "" "0000268338" "05296" "00373062" "01819" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VIII" "" "0000268339" "05296" "00373063" "03889" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VIII" "" "0000268340" "05296" "00373064" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VIII" "" "0000268341" "05296" "00373065" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268342" "05296" "00373066" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI II/III" "" "0000268343" "05296" "00373067" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268344" "05296" "00373068" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268345" "05296" "00373069" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268346" "05296" "00373070" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268347" "05296" "00373071" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268348" "05296" "00373072" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI II" "" "0000268349" "05296" "00373073" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268350" "05296" "00373074" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268351" "05296" "00373075" "03864" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268352" "05296" "00373076" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268353" "05296" "00373077" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268354" "05296" "00373078" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268355" "05296" "00373079" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268356" "05296" "00373080" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268357" "05296" "00373081" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI II/III" "" "0000268358" "05296" "00373082" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VIII" "" "0000268359" "05296" "00373083" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI II/III" "" "0000268360" "05296" "00373084" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268361" "05296" "00373085" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VIII" "" "0000268362" "05296" "00373086" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268363" "05296" "00373087" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268364" "00198" "00373088" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000268365" "00198" "00373089" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000268366" "05296" "00373090" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268367" "05296" "00373091" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268368" "00198" "00373092" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000268369" "05296" "00373093" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268370" "00198" "00373094" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000268371" "05296" "00373095" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI I" "" "0000268372" "00198" "00373096" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000268373" "05296" "00373097" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VIII" "" "0000268374" "05296" "00373098" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268375" "05296" "00373099" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268376" "05296" "00373100" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VIII" "" "0000268377" "00198" "00373101" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000268378" "00198" "00373102" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000268379" "05296" "00373103" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268380" "05296" "00373104" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268381" "05296" "00373105" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI II/III" "" "0000268382" "05296" "00373106" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268383" "05296" "00373107" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VIII" "" "0000268384" "00198" "00373108" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000268385" "05296" "00373109" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI II/III" "" "0000268386" "00198" "00373110" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000268387" "05296" "00373111" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268388" "00198" "00373112" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000290506" "05296" "00397367" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "OI-III" "osteogenesis imperfecta" "" "0000292234" "05296" "00399146" "03897" "Unknown" "" "OI type I (mild OI)" "" "" "" "" "" "" "" "" "" "" "" "0000292235" "05296" "00399147" "03897" "Familial" "" "OI type 4" "" "" "" "" "" "" "" "" "" "" "" "0000322348" "02992" "00431780" "04465" "Familial, autosomal recessive" "16y" "White sclerae and short, barrel-shaped chest. Not able to walk or stand. Short stature. Generalized osteopenia, platyspondyly, slender ribs. Long bones were slender and curved with multiple fractures, resulting in severe bowing. The metaphyses were bulbous and flared. Curved tibiae and fibulae. Various dental abnormalies, e.g. hypodontia." "" "" "" "" "" "" "" "" "" "" "" "0000322349" "02992" "00431781" "04465" "Familial, autosomal recessive" "13y" "White sclerae and short, barrel-shaped chest. Not able to walk or stand. Short stature. Generalized osteopenia, platyspondyly, slender ribs. Long bones were slender and curved with multiple fractures, resulting in severe bowing. The metaphyses were bulbous and flared. Curved tibiae and fibulae. Various dental abnormalies, e.g. hypodontia." "" "" "" "" "" "" "" "" "" "" "" "0000322350" "02992" "00431782" "04465" "Familial, autosomal recessive" "12y" "White sclerae and short, barrel-shaped chest. Not able to walk or stand. Short stature. Generalized osteopenia, platyspondyly, slender ribs. Long bones were slender and curved with multiple fractures, resulting in severe bowing. The metaphyses were bulbous and flared. Curved tibiae and fibulae. Various dental abnormalies, e.g. hypodontia." "" "" "" "" "" "" "" "" "" "" "" "0000322351" "02992" "00431783" "04465" "Familial, autosomal recessive" "05y" "White sclerae and short, barrel-shaped chest. Not able to walk or stand. Short stature. Generalized osteopenia, platyspondyly, slender ribs. Long bones were slender and curved with multiple fractures, resulting in severe bowing. The metaphyses were bulbous and flared. Curved tibiae and fibulae. Various dental abnormalies, e.g. hypodontia." "" "" "" "" "" "" "" "" "" "" "" "0000323039" "03752" "00432477" "04465" "Isolated (sporadic)" "24y" "" "" "" "" "" "" "" "" "" "" "" "" "0000323092" "02992" "00431419" "04465" "Familial, autosomal recessive" "28y" "" "" "" "" "" "" "" "" "" "" "" "" "0000325145" "02992" "00434899" "04465" "Familial, autosomal recessive" "11y" "" "" "" "" "" "" "" "" "" "" "" "" "0000325151" "02992" "00434905" "04465" "Familial, autosomal recessive" "17y" "" "" "" "" "" "" "" "" "" "" "" "" "0000325152" "02992" "00434906" "04465" "Familial, autosomal recessive" "13y" "" "" "" "" "" "" "" "" "" "" "" "" "0000325153" "02992" "00434907" "04465" "Familial, autosomal recessive" "10y" "" "" "" "" "" "" "" "" "" "" "" "" "0000325154" "02992" "00434908" "04465" "Familial, autosomal recessive" "09y" "" "" "" "" "" "" "" "" "" "" "" "" "0000325155" "02992" "00434909" "04465" "Familial, autosomal recessive" "08y" "" "" "" "" "" "" "" "" "" "" "" "" "0000325181" "02992" "00434934" "04465" "Familial, autosomal recessive" "05y" "" "" "" "" "" "" "" "" "" "" "" "" "0000325182" "02992" "00434935" "04465" "Familial, autosomal recessive" "15y" "" "" "" "" "" "" "" "" "" "" "" "" "0000325183" "02992" "00434936" "04465" "Familial, autosomal recessive" "11y" "" "" "" "" "" "" "" "" "" "" "" "" "0000325184" "02992" "00434937" "04465" "Familial, autosomal recessive" "08y" "" "" "" "" "" "" "" "" "" "" "" "" "0000325185" "02992" "00434938" "04465" "Familial, autosomal recessive" "13y" "" "" "" "" "" "" "" "" "" "" "" "" "0000325255" "00636" "00435013" "04465" "Familial, autosomal recessive" "00y00m" "" "" "" "" "" "" "" "" "" "" "" "" "0000325256" "00636" "00435015" "04465" "Familial, autosomal recessive" "00y00m" "" "" "" "" "" "" "" "" "" "" "" "" "0000328527" "06906" "00438624" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000352167" "05296" "00466804" "00006" "Familial, autosomal recessive" "" "OI4 common variable osteogenesis imperfecta, normal sclerae" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "" "0000352168" "05296" "00466805" "00006" "Familial, autosomal recessive" "" "OI4 common variable osteogenesis imperfecta, normal sclerae" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "" "0000352169" "05296" "00466806" "00006" "Familial, autosomal recessive" "" "OI3 progressively deforming osteogenesis imperfecta" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "" "0000352170" "05296" "00466807" "00006" "Familial, autosomal recessive" "" "OI4 common variable osteogenesis imperfecta, normal sclerae" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "" "0000352171" "05296" "00466808" "00006" "Familial, autosomal recessive" "" "OI4 common variable osteogenesis imperfecta, normal sclerae" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "" "0000352172" "05296" "00466809" "00006" "Familial, autosomal recessive" "" "OI4 common variable osteogenesis imperfecta, normal sclerae" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "" "0000352173" "05296" "00466810" "00006" "Familial, autosomal recessive" "" "OI3 progressively deforming osteogenesis imperfecta" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "" "0000352174" "05296" "00466811" "00006" "Familial, autosomal recessive" "" "OI4 common variable osteogenesis imperfecta, normal sclerae" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "" "0000352175" "05296" "00466812" "00006" "Familial, autosomal recessive" "" "OI4 common variable osteogenesis imperfecta, normal sclerae" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "" "0000352176" "05296" "00466813" "00006" "Familial, autosomal recessive" "" "OI4 common variable osteogenesis imperfecta, normal sclerae" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "" "0000352177" "05296" "00466814" "00006" "Familial, autosomal recessive" "" "OI4 common variable osteogenesis imperfecta, normal sclerae" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "" ## Screenings ## Do not remove or alter this header ## ## Count = 155 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000039" "00000039" "1" "00004" "" "2012-05-11 13:18:46" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000081022" "00080910" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000291007" "00289839" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291008" "00289840" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305331" "00304202" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000328659" "00327447" "1" "00006" "00006" "2021-01-21 13:10:01" "" "" "SEQ;SEQ-NG" "DNA" "" "57-gene panel" "0000328660" "00327448" "1" "00006" "00006" "2021-01-21 13:10:01" "" "" "SEQ;SEQ-NG" "DNA" "" "57-gene panel" "0000332718" "00331499" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332719" "00331500" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332720" "00331501" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332721" "00331502" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332722" "00331503" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332723" "00331504" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000374239" "00373005" "1" "00085" "00085" "2017-03-17 08:57:16" "" "" "PCR;SEQ" "DNA" "" "" "0000374240" "00373006" "1" "00085" "00085" "2019-08-16 10:35:23" "00085" "2019-08-29 08:38:19" "SEQ-NG" "DNA" "" "custom gene panel" "0000374241" "00373007" "1" "00085" "00085" "2019-08-16 10:37:20" "00085" "2019-08-29 08:44:36" "SEQ-NG" "DNA" "" "custom gene panel" "0000374242" "00373008" "1" "03704" "00085" "2014-02-10 13:52:01" "00085" "2014-08-12 15:41:48" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000374243" "00373009" "1" "00085" "00085" "2016-11-21 11:57:31" "00085" "2017-02-07 11:07:36" "SEQ-NG;PCR;SEQ" "DNA" "" "custom gene panel" "0000374244" "00373010" "1" "00085" "00085" "2014-08-05 15:32:41" "" "" "PCRm;SEQ" "DNA" "" "" "0000374245" "00373011" "1" "03704" "00085" "2008-06-27 08:44:04" "00085" "2011-02-18 14:22:19" "PCR;SEQ" "DNA" "" "" "0000374246" "00373012" "1" "03704" "00085" "2008-06-27 08:46:08" "00085" "2011-02-18 14:23:12" "PCR;SEQ" "DNA" "" "" "0000374247" "00373013" "1" "03704" "00085" "2008-06-27 08:47:30" "00085" "2011-02-18 14:23:45" "PCR;SEQ" "DNA" "" "" "0000374248" "00373014" "1" "03704" "00085" "2014-02-10 13:47:43" "00085" "2014-04-14 11:25:34" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000374249" "00373015" "1" "03704" "00085" "2008-06-27 08:52:02" "00085" "2014-02-10 11:38:26" "PCR;SEQ" "DNA" "" "" "0000374250" "00373016" "1" "00085" "00085" "2010-10-19 08:10:28" "00085" "2011-02-18 14:25:17" "PCR;SEQ" "DNA" "" "" "0000374251" "00373017" "1" "00085" "00085" "2018-10-03 16:17:32" "" "" "SEQ-NG" "DNA" "" "custom exome panel" "0000374252" "00373018" "1" "03704" "03704" "2013-05-20 23:29:28" "00085" "2014-04-14 11:25:34" "SEQ" "DNA" "" "" "0000374253" "00373019" "1" "00085" "00085" "2012-05-30 08:41:04" "" "" "PCR;SEQ" "DNA" "" "" "0000374254" "00373020" "1" "03704" "03704" "2013-05-20 23:46:29" "00085" "2014-04-14 11:25:34" "SEQ" "DNA" "" "" "0000374255" "00373021" "1" "03704" "00085" "2014-02-10 14:08:12" "00085" "2014-04-14 11:25:34" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000374256" "00373022" "1" "00085" "00085" "2008-12-19 16:19:18" "00085" "2011-02-18 14:26:30" "PCR;SEQ" "DNA" "" "" "0000374257" "00373023" "1" "00085" "00085" "2008-06-25 10:52:15" "00085" "2011-02-18 14:55:02" "PCR;SEQ" "DNA" "" "" "0000374258" "00373024" "1" "03704" "00085" "2008-06-27 09:15:29" "00085" "2014-02-10 14:16:38" "PCR;SEQ" "DNA" "" "" "0000374259" "00373025" "1" "03704" "00085" "2014-02-10 14:10:32" "00085" "2014-04-14 11:25:34" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000374260" "00373026" "1" "00085" "00085" "2013-03-13 11:48:52" "00085" "2014-02-10 14:20:16" "SEQ" "DNA" "" "" "0000374261" "00373027" "1" "00085" "00085" "2019-08-20 15:29:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000374262" "00373028" "1" "03864" "03864" "2012-12-31 11:43:25" "00085" "2013-04-26 11:53:10" "SEQ" "DNA" "" "" "0000374263" "00373029" "1" "03704" "00085" "2008-06-27 08:57:25" "00085" "2011-02-18 14:32:08" "PCR;SEQ" "DNA" "" "" "0000374264" "00373030" "1" "00085" "00085" "2019-08-20 14:42:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000374265" "00373031" "1" "03865" "03865" "2012-06-25 08:49:09" "00085" "2013-08-20 12:56:23" "PCR;SEQ" "DNA" "" "" "0000374266" "00373032" "1" "00085" "00085" "2008-06-25 10:28:17" "00085" "2011-02-18 14:33:50" "PCR;SEQ" "DNA" "" "" "0000374267" "00373033" "1" "00085" "00085" "2008-06-25 10:36:21" "00085" "2011-02-18 14:55:31" "PCR;SEQ" "DNA" "" "" "0000374268" "00373034" "1" "00085" "00085" "2008-06-25 10:43:48" "00085" "2011-02-18 14:35:17" "PCR;SEQ" "DNA" "" "" "0000374269" "00373035" "1" "03704" "00085" "2008-06-27 09:02:54" "00085" "2014-02-10 11:50:37" "PCR;SEQ" "DNA" "" "" "0000374270" "00373036" "1" "03704" "00085" "2008-06-27 09:05:16" "00085" "2014-02-10 11:51:37" "PCR;SEQ" "DNA" "" "" "0000374271" "00373037" "1" "03704" "00085" "2008-06-27 09:06:57" "00085" "2011-02-18 14:36:31" "PCR;SEQ" "DNA" "" "" "0000374272" "00373038" "1" "03704" "00085" "2008-06-27 09:08:52" "00085" "2014-02-10 12:38:46" "PCR;SEQ" "DNA" "" "" "0000374273" "00373039" "1" "03704" "00085" "2008-11-19 13:26:19" "00085" "2011-02-18 14:37:24" "PCR;SEQ" "DNA" "" "" "0000374274" "00373040" "1" "03704" "00085" "2008-11-19 13:29:06" "00085" "2011-02-18 14:37:40" "PCR;SEQ" "DNA" "" "" "0000374275" "00373041" "1" "03704" "00085" "2011-04-08 08:44:23" "" "" "PCR;SEQ" "DNA" "" "" "0000374276" "00373042" "1" "03704" "00085" "2014-02-10 11:47:19" "00085" "2014-04-14 11:25:34" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000374277" "00373043" "1" "03704" "00085" "2014-02-10 11:53:51" "00085" "2014-04-14 11:25:34" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000374278" "00373044" "1" "00085" "00085" "2014-02-10 11:55:32" "00085" "2014-04-14 11:25:34" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000374279" "00373045" "1" "03704" "00085" "2014-02-10 11:57:13" "00085" "2014-04-14 11:25:34" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000374280" "00373046" "1" "03704" "00085" "2014-02-10 12:34:42" "00085" "2014-04-14 11:25:34" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000374281" "00373047" "1" "03704" "00085" "2014-02-10 12:36:11" "00085" "2014-04-14 11:25:34" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000374282" "00373048" "1" "03704" "00085" "2014-02-10 12:37:58" "00085" "2014-04-14 11:25:34" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000374283" "00373049" "1" "03704" "00085" "2014-02-10 12:40:39" "00085" "2014-04-14 11:25:34" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000374284" "00373050" "1" "03704" "00085" "2014-02-10 12:44:50" "00085" "2014-04-14 11:25:34" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000374285" "00373051" "1" "03704" "00085" "2014-02-10 14:31:02" "00085" "2014-04-14 11:25:34" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000374286" "00373052" "1" "03704" "00085" "2014-02-10 14:34:48" "00085" "2014-04-14 11:25:34" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000374287" "00373053" "1" "03704" "00085" "2014-02-10 15:07:55" "00085" "2014-04-14 11:25:34" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000374288" "00373054" "1" "03704" "00085" "2014-02-10 15:17:14" "00085" "2014-04-14 11:25:34" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000374289" "00373055" "1" "03704" "00085" "2014-02-10 15:21:58" "00085" "2014-04-14 11:25:34" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000374290" "00373056" "1" "03704" "00085" "2014-02-10 15:27:18" "00085" "2014-04-14 11:25:34" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000374291" "00373057" "1" "00085" "00085" "2014-08-06 08:53:23" "" "" "PCRm;SEQ" "DNA" "" "" "0000374292" "00373058" "1" "00085" "00085" "2015-12-07 16:09:45" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000374293" "00373059" "1" "00085" "00085" "2016-07-11 15:43:08" "" "" "PCR;SEQ" "DNA" "" "" "0000374294" "00373060" "1" "00085" "00085" "2016-07-11 15:47:10" "" "" "PCR;SEQ" "DNA" "" "" "0000374295" "00373061" "1" "00085" "00085" "2016-07-11 15:50:52" "" "" "PCR;SEQ" "DNA" "" "" "0000374296" "00373062" "1" "01819" "01819" "2016-11-28 16:37:46" "00085" "2020-03-29 14:52:00" "PCR;SEQ" "DNA" "" "" "0000374297" "00373063" "1" "03889" "03889" "2018-04-11 17:32:32" "00085" "2018-04-12 14:04:07" "SEQ-NG" "DNA" "" "custom gene panel" "0000374298" "00373064" "1" "00085" "00085" "2018-09-25 11:42:20" "00085" "2018-09-25 11:43:38" "SEQ" "DNA" "" "" "0000374299" "00373065" "1" "00085" "00085" "2015-12-07 16:22:43" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000374300" "00373066" "1" "00085" "00085" "2008-12-19 16:36:07" "00085" "2011-02-18 14:38:37" "PCR;SEQ" "DNA" "" "" "0000374301" "00373067" "1" "03704" "03704" "2013-05-20 23:59:59" "00085" "2014-04-14 11:25:34" "SEQ" "DNA" "" "" "0000374302" "00373068" "1" "03704" "00085" "2014-02-10 16:12:21" "00085" "2014-04-14 11:25:34" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000374303" "00373069" "1" "03704" "00085" "2014-02-10 16:20:15" "00085" "2014-04-14 11:25:34" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000374304" "00373070" "1" "00085" "00085" "2019-08-20 11:25:04" "00085" "2019-08-23 16:14:02" "SEQ" "DNA" "" "" "0000374305" "00373071" "1" "03704" "00085" "2008-06-27 09:29:42" "00085" "2014-02-10 12:48:55" "PCR;SEQ" "DNA" "" "" "0000374306" "00373072" "1" "03704" "00085" "2008-06-27 09:32:05" "00085" "2014-02-10 12:49:47" "PCR;SEQ" "DNA" "" "" "0000374307" "00373073" "1" "03704" "00085" "2014-02-10 13:06:44" "00085" "2014-04-14 11:25:34" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000374308" "00373074" "1" "03704" "00085" "2014-02-10 13:08:36" "00085" "2014-04-14 11:25:34" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000374309" "00373075" "1" "03864" "03864" "2012-12-31 11:35:32" "00085" "2013-04-26 11:54:00" "SEQ" "DNA" "" "" "0000374310" "00373076" "1" "03704" "00085" "2014-02-10 16:24:58" "00085" "2014-04-14 11:25:34" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000374311" "00373077" "1" "03704" "03704" "2013-05-29 23:30:46" "00085" "2014-04-14 11:25:34" "SEQ" "DNA" "" "" "0000374312" "00373078" "1" "03704" "03704" "2013-05-29 23:33:51" "00085" "2014-04-14 11:25:34" "SEQ" "DNA" "" "" "0000374313" "00373079" "1" "00085" "00085" "2019-08-19 15:12:55" "00085" "2020-03-29 15:03:04" "SEQ" "DNA" "" "" "0000374314" "00373080" "1" "00085" "00085" "2019-08-19 15:37:41" "00085" "2020-03-29 14:46:57" "SEQ" "DNA" "" "" "0000374315" "00373081" "1" "03704" "00085" "2008-06-27 09:23:21" "00085" "2014-02-10 13:13:39" "PCR;SEQ" "DNA" "" "" "0000374316" "00373082" "1" "00085" "00085" "2016-07-11 15:25:04" "00085" "2016-07-11 15:40:25" "PCR;SEQ" "DNA" "" "" "0000374317" "00373083" "1" "00085" "00085" "2008-12-19 16:00:22" "00085" "2011-02-18 14:41:37" "PCR;SEQ" "DNA" "" "" "0000374318" "00373084" "1" "03704" "00085" "2008-06-27 09:19:02" "00085" "2014-02-10 13:14:39" "PCR;SEQ" "DNA" "" "" "0000374319" "00373085" "1" "00085" "00085" "2009-10-23 13:40:20" "00085" "2016-07-11 15:20:05" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000374320" "00373086" "1" "00085" "00085" "2011-06-27 14:23:13" "" "" "PCR;SEQ" "DNA" "" "" "0000374321" "00373087" "1" "00085" "00085" "2011-06-27 14:29:30" "" "" "PCR;SEQ" "DNA" "" "" "0000374322" "00373088" "1" "00085" "00085" "2015-12-08 10:53:11" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000374323" "00373089" "1" "00085" "00085" "2009-11-30 12:51:50" "" "" "?" "?" "" "" "0000374324" "00373090" "1" "00085" "00085" "2019-08-20 11:49:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000374325" "00373091" "1" "00085" "00085" "2019-08-20 14:02:34" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000374326" "00373092" "1" "00085" "00085" "2015-12-08 10:55:43" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000374327" "00373093" "1" "00085" "00085" "2008-06-25 10:56:52" "00085" "2016-07-11 15:15:47" "PCR;SEQ" "DNA" "" "" "0000374328" "00373094" "1" "00085" "00085" "2009-11-30 12:48:27" "" "" "?" "?" "" "" "0000374329" "00373095" "1" "00085" "00085" "2015-12-08 10:17:26" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000374330" "00373096" "1" "00085" "00085" "2015-12-08 10:59:59" "00085" "2015-12-08 16:06:51" "PCR;SEQ;SSCA" "DNA" "" "" "0000374331" "00373097" "1" "00085" "00085" "2019-08-27 13:08:29" "" "" "?" "?" "" "" "0000374332" "00373098" "1" "00085" "00085" "2019-08-16 11:06:20" "00085" "2019-08-29 08:46:10" "SEQ-NG" "DNA" "" "custom gene panel" "0000374333" "00373099" "1" "03704" "00085" "2014-02-10 13:25:57" "00085" "2014-04-14 11:25:34" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000374334" "00373100" "1" "00085" "00085" "2019-03-20 11:56:14" "" "" "PCR;SEQ" "DNA" "" "" "0000374335" "00373101" "1" "00085" "00085" "2015-12-08 11:02:03" "00085" "2015-12-08 16:08:40" "PCR;SEQ;SSCA" "DNA" "" "" "0000374336" "00373102" "1" "00085" "00085" "2009-11-30 12:45:27" "" "" "?" "?" "" "" "0000374337" "00373103" "1" "03704" "00085" "2014-02-10 13:32:30" "00085" "2014-04-14 11:25:34" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000374338" "00373104" "1" "00085" "00085" "2015-12-07 16:35:00" "00085" "2015-12-08 10:11:23" "PCR;SEQ;SSCA" "DNA" "" "" "0000374339" "00373105" "1" "03704" "00085" "2008-06-27 09:00:01" "00085" "2014-02-10 13:39:47" "PCR;SEQ" "DNA" "" "" "0000374340" "00373106" "1" "03704" "00085" "2014-02-10 13:41:42" "00085" "2014-04-14 11:25:34" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000374341" "00373107" "1" "00085" "00085" "2018-05-31 09:32:55" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" "custom exome panel" "0000374342" "00373108" "1" "00085" "00085" "2015-12-08 11:14:40" "00085" "2015-12-08 16:19:51" "PCR;SEQ;SSCA" "DNA" "" "" "0000374343" "00373109" "1" "00085" "00085" "2008-12-19 16:40:31" "00085" "2011-02-18 14:50:33" "PCR;SEQ" "DNA" "" "" "0000374344" "00373110" "1" "00085" "00085" "2015-12-08 11:16:38" "00085" "2015-12-08 16:16:57" "PCR;SEQ;SSCA" "DNA" "" "" "0000374345" "00373111" "1" "00085" "00085" "2012-11-13 10:26:07" "00085" "2012-11-13 13:28:45" "PCR;SEQ" "DNA" "" "" "0000374346" "00373112" "1" "00085" "00085" "2009-11-30 12:32:21" "" "" "?" "?" "" "" "0000398607" "00397367" "1" "00006" "00006" "2021-12-20 15:54:33" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000400391" "00399146" "1" "03897" "03897" "2022-01-16 14:46:56" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000400392" "00399147" "1" "03897" "03897" "2022-01-16 15:26:58" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000432834" "00431419" "1" "04465" "04465" "2023-02-13 11:45:28" "" "" "SEQ-NG-IT" "DNA" "" "PGM platform" "0000433218" "00431780" "1" "04465" "04465" "2023-02-16 13:35:25" "" "" "SEQ-NG" "DNA" "saliva" "Whole-Exome Sequencing (WES)" "0000433219" "00431781" "1" "04465" "04465" "2023-02-16 13:41:57" "" "" "SEQ-NG" "DNA" "saliva" "Whole-Exome Sequencing (WES)" "0000433220" "00431782" "1" "04465" "04465" "2023-02-16 13:46:02" "" "" "SEQ-NG" "DNA" "saliva" "Whole-Exome Sequencing (WES)" "0000433221" "00431783" "1" "04465" "04465" "2023-02-16 13:50:22" "" "" "SEQ-NG" "DNA" "saliva" "Whole-Exome Sequnecing (WES)" "0000433919" "00432477" "1" "04465" "04465" "2023-02-23 10:24:17" "" "" "SEQ-NG" "DNA" "whole venous blood" "" "0000436372" "00434899" "1" "04465" "04465" "2023-04-12 09:51:48" "" "" "SEQ-NG" "DNA" "Saliva" "Whole Exome Sequencing (WES)" "0000436378" "00434905" "1" "04465" "04465" "2023-04-13 16:10:24" "04465" "2023-04-13 16:21:41" "SEQ-NG" "DNA" "Saliva" "WES" "0000436379" "00434906" "1" "04465" "04465" "2023-04-13 16:14:53" "04465" "2023-04-13 16:22:43" "SEQ" "DNA" "Saliva" "" "0000436380" "00434907" "1" "04465" "04465" "2023-04-13 16:18:21" "" "" "SEQ" "DNA" "Saliva" "" "0000436381" "00434908" "1" "04465" "04465" "2023-04-13 16:26:10" "" "" "SEQ" "DNA" "Saliva" "" "0000436382" "00434909" "1" "04465" "04465" "2023-04-13 16:33:06" "" "" "SEQ" "DNA" "Saliva" "" "0000436407" "00434934" "1" "04465" "04465" "2023-04-14 16:21:52" "04465" "2023-04-14 16:23:41" "SEQ" "DNA" "saliva" "" "0000436408" "00434935" "1" "04465" "04465" "2023-04-14 16:25:31" "" "" "SEQ" "DNA" "saliva" "" "0000436409" "00434936" "1" "04465" "04465" "2023-04-14 16:28:06" "" "" "SEQ" "DNA" "saliva" "" "0000436410" "00434937" "1" "04465" "04465" "2023-04-14 16:30:49" "" "" "SEQ" "DNA" "saliva" "" "0000436411" "00434938" "1" "04465" "04465" "2023-04-14 16:34:48" "" "" "SEQ" "DNA" "saliva" "" "0000436486" "00435013" "1" "04465" "04465" "2023-04-19 16:40:04" "" "" "SEQ-NG" "DNA" "" "" "0000436488" "00435015" "1" "04465" "04465" "2023-04-19 16:43:35" "" "" "SEQ-NG" "DNA" "" "" "0000440106" "00438624" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000468468" "00466804" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468469" "00466805" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468470" "00466806" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468471" "00466807" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468472" "00466808" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468473" "00466809" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468474" "00466810" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468475" "00466811" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468476" "00466812" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468477" "00466813" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468478" "00466814" "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 = 139 "{{screeningid}}" "{{geneid}}" "0000000039" "AHI1" "0000000039" "ATP7B" "0000000039" "DPYD" "0000000039" "ETFB" "0000000039" "GAA" "0000000039" "GLB1" "0000000039" "LAMA2" "0000000039" "MTHFR" "0000000039" "NPHP4" "0000000039" "NPHS1" "0000000039" "P3H1" "0000000039" "SBDS" "0000000039" "SLC26A2" "0000081022" "P3H1" "0000328659" "P3H1" "0000328660" "P3H1" "0000332718" "P3H1" "0000332719" "P3H1" "0000332720" "P3H1" "0000332721" "P3H1" "0000332722" "P3H1" "0000332723" "P3H1" "0000374239" "P3H1" "0000374240" "P3H1" "0000374241" "P3H1" "0000374242" "P3H1" "0000374243" "P3H1" "0000374244" "P3H1" "0000374245" "P3H1" "0000374246" "P3H1" "0000374247" "P3H1" "0000374248" "P3H1" "0000374249" "P3H1" "0000374250" "P3H1" "0000374251" "P3H1" "0000374252" "P3H1" "0000374253" "P3H1" "0000374254" "P3H1" "0000374255" "P3H1" "0000374256" "P3H1" "0000374257" "P3H1" "0000374258" "P3H1" "0000374259" "P3H1" "0000374260" "P3H1" "0000374261" "P3H1" "0000374262" "P3H1" "0000374263" "P3H1" "0000374264" "P3H1" "0000374265" "P3H1" "0000374266" "P3H1" "0000374267" "P3H1" "0000374268" "P3H1" "0000374269" "P3H1" "0000374270" "P3H1" "0000374271" "P3H1" "0000374272" "P3H1" "0000374273" "P3H1" "0000374274" "P3H1" "0000374275" "P3H1" "0000374276" "P3H1" "0000374277" "P3H1" "0000374278" "P3H1" "0000374279" "P3H1" "0000374280" "P3H1" "0000374281" "P3H1" "0000374282" "P3H1" "0000374283" "P3H1" "0000374284" "P3H1" "0000374285" "P3H1" "0000374286" "P3H1" "0000374287" "P3H1" "0000374288" "P3H1" "0000374289" "P3H1" "0000374290" "P3H1" "0000374291" "P3H1" "0000374292" "P3H1" "0000374293" "P3H1" "0000374294" "P3H1" "0000374295" "P3H1" "0000374296" "P3H1" "0000374297" "P3H1" "0000374298" "P3H1" "0000374299" "P3H1" "0000374300" "P3H1" "0000374301" "P3H1" "0000374302" "P3H1" "0000374303" "P3H1" "0000374304" "P3H1" "0000374305" "P3H1" "0000374306" "P3H1" "0000374307" "P3H1" "0000374308" "P3H1" "0000374309" "P3H1" "0000374310" "P3H1" "0000374311" "P3H1" "0000374312" "P3H1" "0000374313" "P3H1" "0000374314" "P3H1" "0000374315" "P3H1" "0000374316" "P3H1" "0000374317" "P3H1" "0000374318" "P3H1" "0000374319" "P3H1" "0000374320" "P3H1" "0000374321" "P3H1" "0000374322" "P3H1" "0000374323" "P3H1" "0000374324" "P3H1" "0000374325" "P3H1" "0000374326" "P3H1" "0000374327" "P3H1" "0000374328" "P3H1" "0000374329" "P3H1" "0000374330" "P3H1" "0000374331" "P3H1" "0000374332" "P3H1" "0000374333" "P3H1" "0000374334" "P3H1" "0000374335" "P3H1" "0000374336" "P3H1" "0000374337" "P3H1" "0000374338" "P3H1" "0000374339" "P3H1" "0000374340" "P3H1" "0000374341" "P3H1" "0000374342" "P3H1" "0000374343" "P3H1" "0000374344" "P3H1" "0000374345" "P3H1" "0000374346" "P3H1" "0000436378" "P3H1" "0000436379" "P3H1" "0000436381" "P3H1" "0000436382" "P3H1" "0000436407" "P3H1" "0000436408" "P3H1" "0000436409" "P3H1" "0000436410" "P3H1" "0000436411" "P3H1" ## 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 = 248 "{{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}}" "0000000093" "0" "50" "1" "43225040" "43225040" "subst" "3.65874E-5" "00002" "P3H1_000084" "g.43225040G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.42759369G>A" "" "VUS" "" "0000130108" "3" "90" "1" "43212524" "43212524" "subst" "0" "01758" "P3H1_000073" "g.43212524C>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.42746853C>T" "" "pathogenic" "ACMG" "0000250081" "0" "10" "1" "43212431" "43212431" "subst" "0.999924" "02329" "P3H1_000085" "g.43212431A>G" "" "" "" "P3H1(NM_022356.3):c.2148T>C (p.G716=), P3H1(NM_022356.4):c.2148T>C (p.G716=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000250188" "0" "10" "1" "43213103" "43213103" "subst" "0.0691792" "02329" "P3H1_000032" "g.43213103A>C" "" "" "" "P3H1(NM_022356.3):c.1915-20T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42747432A>C" "" "benign" "" "0000283543" "0" "10" "1" "43223489" "43223489" "subst" "0.0436398" "02329" "P3H1_000025" "g.43223489C>T" "" "" "" "P3H1(NM_022356.3):c.1045G>A (p.G349R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42757818C>T" "" "benign" "" "0000283544" "0" "10" "1" "43232504" "43232504" "subst" "0.0309251" "02329" "P3H1_000089" "g.43232504C>A" "" "" "" "P3H1(NM_022356.3):c.139G>T (p.A47S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42766833C>A" "" "benign" "" "0000283545" "0" "10" "1" "43215930" "43215930" "subst" "0.0679875" "02329" "P3H1_000030" "g.43215930C>T" "" "" "" "P3H1(NM_001243246.1):c.1647G>A (p.M549I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42750259C>T" "" "benign" "" "0000283546" "0" "10" "1" "43212926" "43212926" "subst" "0.0455392" "02329" "P3H1_000033" "g.43212926G>A" "" "" "" "P3H1(NM_022356.3):c.2055+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42747255G>A" "" "benign" "" "0000283547" "0" "30" "1" "43232568" "43232568" "subst" "0" "02329" "P3H1_000090" "g.43232568C>G" "" "" "" "P3H1(NM_022356.3):c.75G>C (p.E25D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42766897C>G" "" "likely benign" "" "0000298773" "0" "30" "1" "43220563" "43220563" "subst" "0.00261516" "02329" "P3H1_000087" "g.43220563T>C" "" "" "" "LEPRE1(NM_001146289.1):c.1322A>G (p.(Asp441Gly)), P3H1(NM_022356.3):c.1322A>G (p.D441G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42754892T>C" "" "likely benign" "" "0000298774" "0" "30" "1" "43213863" "43213863" "subst" "4.91236E-5" "02329" "P3H1_000086" "g.43213863G>A" "" "" "" "P3H1(NM_022356.3):c.1838+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42748192G>A" "" "likely benign" "" "0000298775" "0" "30" "1" "43224987" "43224987" "subst" "0.000215242" "02329" "P3H1_000088" "g.43224987C>T" "" "" "" "P3H1(NM_022356.3):c.693G>A (p.A231=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42759316C>T" "" "likely benign" "" "0000507473" "0" "90" "1" "43212410" "43212467" "del" "0" "02329" "P3H1_000091" "g.43212410_43212467del" "" "" "" "P3H1(NM_022356.3):c.2112_2169del (p.E708Afs*21)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42746739_42746796del" "" "pathogenic" "" "0000507474" "0" "10" "1" "43212431" "43212431" "subst" "0.999924" "02325" "P3H1_000085" "g.43212431A>G" "" "" "" "P3H1(NM_022356.3):c.2148T>C (p.G716=), P3H1(NM_022356.4):c.2148T>C (p.G716=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000507476" "0" "30" "1" "43212750" "43212750" "subst" "0.00511309" "01804" "P3H1_000093" "g.43212750C>T" "" "" "" "LEPRE1(NM_001243246.1):c.2248G>A (p.(Gly750Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42747079C>T" "" "likely benign" "" "0000507477" "0" "30" "1" "43212873" "43212873" "subst" "0.0019557" "01804" "P3H1_000094" "g.43212873C>A" "" "" "" "LEPRE1(NM_001243246.1):c.2125G>T (p.(Ala709Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42747202C>A" "" "likely benign" "" "0000507479" "0" "10" "1" "43213897" "43213897" "subst" "0.00378551" "02329" "P3H1_000021" "g.43213897G>A" "" "" "" "P3H1(NM_022356.3):c.1812C>T (p.P604=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42748226G>A" "" "benign" "" "0000507480" "0" "30" "1" "43213992" "43213992" "subst" "0.000296934" "02329" "P3H1_000095" "g.43213992G>A" "" "" "" "P3H1(NM_022356.3):c.1721-4C>T, P3H1(NM_022356.4):c.1721-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42748321G>A" "" "likely benign" "" "0000507481" "0" "50" "1" "43215917" "43215917" "subst" "0.000183253" "01804" "P3H1_000096" "g.43215917G>A" "" "" "" "LEPRE1(NM_001146289.1):c.1660C>T (p.(Arg554Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42750246G>A" "" "VUS" "" "0000507482" "0" "31" "1" "43217942" "43217942" "subst" "0.00378126" "01804" "P3H1_000097" "g.43217942T>C" "" "" "" "LEPRE1(NM_001146289.1):c.1569+3A>G (p.?), P3H1(NM_022356.3):c.1569+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42752271T>C" "" "likely benign" "" "0000507483" "0" "10" "1" "43217942" "43217942" "subst" "0.00378126" "02329" "P3H1_000097" "g.43217942T>C" "" "" "" "LEPRE1(NM_001146289.1):c.1569+3A>G (p.?), P3H1(NM_022356.3):c.1569+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42752271T>C" "" "benign" "" "0000507486" "0" "30" "1" "43218314" "43218314" "subst" "0.000134015" "01804" "P3H1_000099" "g.43218314C>T" "" "" "" "LEPRE1(NM_001146289.1):c.1367G>A (p.(Gly456Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42752643C>T" "" "likely benign" "" "0000507487" "0" "30" "1" "43220563" "43220563" "subst" "0.00261516" "01804" "P3H1_000087" "g.43220563T>C" "" "" "" "LEPRE1(NM_001146289.1):c.1322A>G (p.(Asp441Gly)), P3H1(NM_022356.3):c.1322A>G (p.D441G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42754892T>C" "" "likely benign" "" "0000507488" "0" "10" "1" "43220601" "43220601" "subst" "0.00389854" "02329" "P3H1_000100" "g.43220601G>A" "" "" "" "P3H1(NM_022356.3):c.1284C>T (p.I428=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42754930G>A" "" "benign" "" "0000507490" "0" "10" "1" "43223508" "43223508" "subst" "0.00378047" "02329" "P3H1_000101" "g.43223508G>A" "" "" "" "P3H1(NM_022356.3):c.1026C>T (p.A342=), P3H1(NM_022356.4):c.1026C>T (p.(Ala342=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42757837G>A" "" "benign" "" "0000507492" "0" "30" "1" "43228001" "43228001" "subst" "0.00175013" "01804" "P3H1_000103" "g.43228001G>T" "" "" "" "LEPRE1(NM_001146289.1):c.611C>A (p.(Pro204His)), P3H1(NM_022356.3):c.611C>A (p.P204H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42762330G>T" "" "likely benign" "" "0000620641" "0" "30" "1" "43213072" "43213072" "subst" "0" "01943" "P3H1_000105" "g.43213072C>T" "" "" "" "P3H1(NM_001243246.1):c.1926G>A (p.Q642=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42747401C>T" "" "likely benign" "" "0000647696" "1" "50" "1" "43218010" "43218010" "subst" "0.000921902" "03575" "P3H1_000106" "g.43218010C>G" "2/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs139259804}" "Germline" "" "rs139259804" "0" "" "" "g.42752339C>G" "" "VUS" "" "0000647697" "1" "10" "1" "43232504" "43232504" "subst" "0.0309251" "03575" "P3H1_000089" "g.43232504C>A" "251/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "251 heterozygous; {DB:CLININrs55716016}" "Germline" "" "rs55716016" "0" "" "" "g.42766833C>A" "" "benign" "" "0000654041" "0" "30" "1" "43225051" "43225051" "subst" "3.25349E-5" "01804" "P3H1_000107" "g.43225051C>T" "" "" "" "LEPRE1(NM_001146289.1):c.629G>A (p.(Arg210Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42759380C>T" "" "likely benign" "" "0000669019" "3" "10" "1" "43232504" "43232504" "subst" "0.0309251" "03575" "P3H1_000089" "g.43232504C>A" "7/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 homozygous; {DB:CLININrs55716016}" "Germline" "" "rs55716016" "0" "" "" "g.42766833C>A" "" "benign" "" "0000688176" "0" "30" "1" "43212415" "43212415" "subst" "3.91788E-5" "01943" "P3H1_000108" "g.43212415G>T" "" "" "" "P3H1(NM_022356.3):c.2164C>A (p.Q722K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688177" "0" "30" "1" "43212896" "43212896" "subst" "8.13789E-6" "01943" "P3H1_000109" "g.43212896G>C" "" "" "" "P3H1(NM_001243246.1):c.2102C>G (p.P701R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688178" "0" "30" "1" "43215508" "43215508" "subst" "0" "02329" "P3H1_000110" "g.43215508G>C" "" "" "" "P3H1(NM_022356.3):c.1720+349C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688179" "0" "50" "1" "43232495" "43232495" "subst" "1.32539E-5" "01943" "P3H1_000111" "g.43232495C>T" "" "" "" "P3H1(NM_001243246.1):c.148G>A (p.D50N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000712618" "3" "99" "1" "43225052" "43225052" "subst" "1.22031E-5" "00006" "P3H1_000015" "g.43225052G>A" "" "{PMID:Demir 2021:33470886}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.42759381G>A" "" "pathogenic" "" "0000712619" "11" "77" "1" "43212925" "43212925" "subst" "4.06428E-6" "00006" "P3H1_000017" "g.43212925C>T" "" "{PMID:Demir 2021:33470886}" "" "" "inherited from unaffected father" "Germline" "" "" "0" "" "" "g.42747254C>T" "" "likely pathogenic" "" "0000712630" "21" "55" "1" "43215910" "43215910" "subst" "0" "00006" "P3H1_000112" "g.43215910T>C" "" "{PMID:Demir 2021:33470886}" "" "" "Inherited from the unaffected mother" "Germline" "" "" "0" "" "" "g.42750239T>C" "" "VUS" "" "0000717492" "0" "10" "1" "43216321" "43216321" "subst" "0" "02329" "P3H1_000114" "g.43216321C>G" "" "" "" "P3H1(NM_022356.3):c.1570-314G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000717493" "0" "10" "1" "43228001" "43228001" "subst" "0.00175013" "02329" "P3H1_000103" "g.43228001G>T" "" "" "" "LEPRE1(NM_001146289.1):c.611C>A (p.(Pro204His)), P3H1(NM_022356.3):c.611C>A (p.P204H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000730000" "3" "90" "1" "43213471" "43213471" "subst" "4.06075E-6" "00000" "P3H1_000113" "g.43213471T>G" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_022356.3:c.1839-2A>C" "" "Germline" "" "" "0" "" "" "g.42747800T>G" "" "likely pathogenic (recessive)" "" "0000730001" "3" "90" "1" "43212524" "43212524" "subst" "0" "00000" "P3H1_000073" "g.43212524C>T" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_022356.3:c.2056-1G>A" "" "Germline" "" "" "0" "" "" "g.42746853C>T" "" "pathogenic (recessive)" "" "0000730002" "3" "90" "1" "43213471" "43213471" "subst" "4.06075E-6" "00000" "P3H1_000113" "g.43213471T>G" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_022356.3:c.1839-2A>C" "" "Germline" "" "" "0" "" "" "g.42747800T>G" "" "likely pathogenic (recessive)" "" "0000730003" "3" "90" "1" "43212524" "43212524" "subst" "0" "00000" "P3H1_000073" "g.43212524C>T" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_022356.3:c.2056-1G>A" "" "Germline" "" "" "0" "" "" "g.42746853C>T" "" "pathogenic (recessive)" "" "0000730004" "3" "90" "1" "43212524" "43212524" "subst" "0" "00000" "P3H1_000073" "g.43212524C>T" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_022356.3:c.2056-1G>A" "" "Germline" "" "" "0" "" "" "g.42746853C>T" "" "pathogenic (recessive)" "" "0000730005" "3" "90" "1" "43228041" "43228042" "del" "0" "00000" "P3H1_000079" "g.43228041_43228042del" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_022356.3:c.570_571del:(p.Gly191Serfs*10)" "" "Germline" "" "" "0" "" "" "g.42762370_42762371del" "" "pathogenic (recessive)" "" "0000784975" "3" "99" "1" "43232634" "43232634" "dup" "0" "00085" "P3H1_000037" "g.43232634dup" "" "{PMID:Caparros-Martin 2016:28116328}" "" "c.9dupA" "The variant is incorrectly described as being in the LEPRE1 gene." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784976" "0" "99" "1" "43232617" "43232617" "subst" "0" "00085" "P3H1_000041" "g.43232617A>G" "" "{PMID:Mohd Nawawi 2018:29807018}" "" "" "P3H1 sequence variants are normally recessive. The single variant in this patient probably does not account alone for the OI phenotype." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784977" "0" "99" "1" "43232617" "43232617" "subst" "0" "00085" "P3H1_000041" "g.43232617A>G" "" "{PMID:Mohd Nawawi 2018:29807018}" "" "" "P3H1 sequence variants are normally recessive. The single variant in this patient probably does not account alone for the OI phenotype." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784978" "0" "99" "1" "43232544" "43232548" "delins" "0" "03704" "P3H1_000083" "g.43232544_43232548delinsT" "" "{PMID:Pepin 2013:24498616}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784979" "11" "99" "1" "43232523" "43232538" "del" "4.36403E-6" "00085" "P3H1_000035" "g.43232523_43232538del" "" "{PMID:Huang 2017:27864101}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784980" "3" "99" "1" "43232505" "43232505" "subst" "0" "00085" "P3H1_000061" "g.43232505G>T" "" "{PMID:Rauch 2014:25086671}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784981" "3" "99" "1" "43232411" "43232411" "del" "0" "03704" "P3H1_000005" "g.43232411del" "" "{PMID:Baldridge 2008:18566967}" "" "c.232delC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784982" "3" "99" "1" "43232411" "43232411" "del" "0" "03704" "P3H1_000005" "g.43232411del" "" "{PMID:Baldridge 2008:18566967}" "" "c.232delC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784983" "3" "99" "1" "43232411" "43232411" "del" "0" "03704" "P3H1_000005" "g.43232411del" "" "{PMID:Baldridge 2008:18566967}" "" "c.232delC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784984" "0" "99" "1" "43232411" "43232411" "del" "0" "03704" "P3H1_000005" "g.43232411del" "" "{PMID:Pepin 2013:24498616}" "" "c.232delC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784985" "3" "99" "1" "43232251" "43232251" "subst" "4.27537E-6" "03704" "P3H1_000006" "g.43232251G>T" "" "{PMID:Baldridge 2008:18566967}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784986" "3" "99" "1" "43232241" "43232242" "del" "0" "00085" "P3H1_000076" "g.43232241_43232242del" "" "{PMID:van Dijk 2010:20946018}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784987" "0" "99" "1" "43232215" "43232215" "subst" "0" "00085" "P3H1_000040" "g.43232215C>G" "" "{PMID:Popkov, 2018:30269195}" "" "" "Variant details were supplied by the author. It is not clear if the patient is homozygous for the variant, or is heterozygous and harbours some other variant in addition." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784988" "3" "99" "1" "43232202" "43232204" "del" "0" "03704" "P3H1_000077" "g.43232202_43232204del" "" "{PMID:Pepin 2013:24498616}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784989" "11" "99" "1" "43228128" "43228128" "del" "0" "00085" "P3H1_000078" "g.43228128del" "" "{PMID:Takagi 2012:22615817}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784990" "3" "99" "1" "43228041" "43228042" "del" "0" "03704" "P3H1_000079" "g.43228041_43228042del" "" "{PMID:Pepin 2013:24498616}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784991" "0" "99" "1" "43227993" "43227993" "subst" "4.06058E-6" "03704" "P3H1_000080" "g.43227993C>T" "" "{PMID:Pepin 2013:24498616}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784992" "3" "99" "1" "43225052" "43225052" "subst" "1.22031E-5" "00085" "P3H1_000015" "g.43225052G>A" "" "{PMID:Willaert 2008:19088120}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784993" "11" "99" "1" "43224933" "43224933" "del" "8.12189E-6" "00085" "P3H1_000003" "g.43224933del" "" "{PMID:Cabral 2007:17277775}" "NlaIV-" "c.747delC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784994" "0" "99" "1" "43224915" "43224915" "subst" "8.12209E-6" "03704" "P3H1_000009" "g.43224915G>T" "" "{PMID:Baldridge 2008:18566967}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784995" "0" "99" "1" "43224915" "43224915" "subst" "8.12209E-6" "03704" "P3H1_000009" "g.43224915G>T" "" "{PMID:Pepin 2013:24498616}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784996" "0" "99" "1" "43224625" "43224625" "subst" "0" "00085" "P3H1_000081" "g.43224625G>A" "" "{PMID:Moul 2013:23301918}" "" "" "The sequence variants are not presented by the authors in the paper, but were provided by the diagnostic laboratory. This patient was subsequently presented as patient 35 by {PMID24498616:Pepin et al., 2013}." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784997" "3" "79" "1" "43224583" "43224584" "del" "0" "00085" "P3H1_000051" "g.43224583_43224584del" "" "{PMID:Mrosk 2018:29499418}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000784998" "3" "99" "1" "43224536" "43224536" "del" "1.62451E-5" "03864" "P3H1_000082" "g.43224536del" "" "{PMID:Caparrós-Martin 2013:23613367}" "" "c.927delT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784999" "3" "99" "1" "43224530" "43224530" "subst" "0" "03704" "P3H1_000007" "g.43224530G>C" "" "{PMID:Baldridge 2008:18566967}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785000" "0" "99" "1" "43223508" "43223508" "del" "0" "00085" "P3H1_000049" "g.43223508del" "" "{PMID:Mrosk 2018:29499418}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785001" "0" "73" "1" "43223489" "43223489" "subst" "0.0436398" "03865" "P3H1_000025" "g.43223489C>T" "" "" "" "" "It is improbable that this is the disease-causing variant as this variant is too frequent in most populations to be associated with OI." "Germline" "" "rs6700677" "0" "" "" "" "" "likely pathogenic" "" "0000785002" "3" "99" "1" "43223453" "43223453" "subst" "0.000198973" "00085" "P3H1_000001" "g.43223453C>A" "" "{PMID:Cabral 2007:17277775}" "BslI+" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785003" "3" "99" "1" "43223453" "43223453" "subst" "0.000198973" "00085" "P3H1_000001" "g.43223453C>A" "" "{PMID:Cabral 2007:17277775}" "BslI+" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785004" "21" "99" "1" "43223453" "43223453" "subst" "0.000198973" "00085" "P3H1_000001" "g.43223453C>A" "" "{PMID:Cabral 2007:17277775}" "BslI+" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785005" "21" "99" "1" "43223453" "43223453" "subst" "0.000198973" "00085" "P3H1_000001" "g.43223453C>A" "" "{PMID:Cabral 2007:17277775}" "BslI+" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785006" "3" "99" "1" "43223453" "43223453" "subst" "0.000198973" "03704" "P3H1_000001" "g.43223453C>A" "" "{PMID:Baldridge 2008:18566967}" "BslI+" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785007" "3" "99" "1" "43223453" "43223453" "subst" "0.000198973" "03704" "P3H1_000001" "g.43223453C>A" "" "{PMID:Baldridge 2008:18566967}" "BslI+" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785008" "3" "99" "1" "43223453" "43223453" "subst" "0.000198973" "03704" "P3H1_000001" "g.43223453C>A" "" "{PMID:Baldridge 2008:18566967}" "BslI+" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785009" "3" "99" "1" "43223453" "43223453" "subst" "0.000198973" "03704" "P3H1_000001" "g.43223453C>A" "" "{PMID:Baldridge 2008:18566967}" "BslI+" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785010" "0" "99" "1" "43223453" "43223453" "subst" "0.000198973" "03704" "P3H1_000001" "g.43223453C>A" "" "{PMID:Baldridge 2008:18566967}" "BslI+" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785011" "3" "99" "1" "43223453" "43223453" "subst" "0.000198973" "03704" "P3H1_000001" "g.43223453C>A" "" "{PMID:Bodian 2009:18996919}" "BslI+" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785012" "3" "99" "1" "43223453" "43223453" "subst" "0.000198973" "03704" "P3H1_000001" "g.43223453C>A" "" "{PMID:Bodian 2009:18996919}" "BslI+" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785013" "3" "95" "1" "43223453" "43223453" "subst" "0.000198973" "03704" "P3H1_000001" "g.43223453C>A" "" "{PMID:Pyott 2011:21239989}" "BslI+" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785014" "0" "99" "1" "43223453" "43223453" "subst" "0.000198973" "00085" "P3H1_000001" "g.43223453C>A" "" "{PMID:Moul 2013:23301918}" "BslI+" "" "The sequence variants are not presented by the authors in the paper, but were provided by the diagnostic laboratory. This patient was subsequently presented as patient 35 by {PMID24498616:Pepin et al., 2013}." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785015" "3" "99" "1" "43223453" "43223453" "subst" "0.000198973" "03704" "P3H1_000001" "g.43223453C>A" "" "{PMID:Pepin 2013:24498616}" "BslI+" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785016" "3" "99" "1" "43223453" "43223453" "subst" "0.000198973" "03704" "P3H1_000001" "g.43223453C>A" "" "{PMID:Pepin 2013:24498616}" "BslI+" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785017" "3" "99" "1" "43223453" "43223453" "subst" "0.000198973" "00085" "P3H1_000001" "g.43223453C>A" "" "{PMID:Pepin 2013:24498616}" "BslI+" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785018" "3" "99" "1" "43223453" "43223453" "subst" "0.000198973" "03704" "P3H1_000001" "g.43223453C>A" "" "{PMID:Pepin 2013:24498616}" "BslI+" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785019" "3" "99" "1" "43223453" "43223453" "subst" "0.000198973" "03704" "P3H1_000001" "g.43223453C>A" "" "{PMID:Pepin 2013:24498616}" "BslI+" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785020" "3" "99" "1" "43223453" "43223453" "subst" "0.000198973" "03704" "P3H1_000001" "g.43223453C>A" "" "{PMID:Pepin 2013:24498616}" "BslI+" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785021" "3" "99" "1" "43223453" "43223453" "subst" "0.000198973" "03704" "P3H1_000001" "g.43223453C>A" "" "{PMID:Pepin 2013:24498616}" "BslI+" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785022" "3" "99" "1" "43223453" "43223453" "subst" "0.000198973" "03704" "P3H1_000001" "g.43223453C>A" "" "{PMID:Pepin 2013:24498616}" "BslI+" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785023" "3" "99" "1" "43223453" "43223453" "subst" "0.000198973" "03704" "P3H1_000001" "g.43223453C>A" "" "{PMID:Pepin 2013:24498616}" "BslI+" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785024" "0" "99" "1" "43223453" "43223453" "subst" "0.000198973" "03704" "P3H1_000001" "g.43223453C>A" "" "{PMID:Pepin 2013:24498616}" "BslI+" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785025" "0" "99" "1" "43223453" "43223453" "subst" "0.000198973" "03704" "P3H1_000001" "g.43223453C>A" "" "{PMID:Pepin 2013:24498616}" "BslI+" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785026" "0" "99" "1" "43223453" "43223453" "subst" "0.000198973" "03704" "P3H1_000001" "g.43223453C>A" "" "{PMID:Pepin 2013:24498616}" "BslI+" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785027" "0" "99" "1" "43223453" "43223453" "subst" "0.000198973" "03704" "P3H1_000001" "g.43223453C>A" "" "{PMID:Pepin 2013:24498616}" "BslI+" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785028" "0" "99" "1" "43223453" "43223453" "subst" "0.000198973" "03704" "P3H1_000001" "g.43223453C>A" "" "{PMID:Pepin 2013:24498616}" "BslI+" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785029" "0" "99" "1" "43223453" "43223453" "subst" "0.000198973" "03704" "P3H1_000001" "g.43223453C>A" "" "{PMID:Pepin 2013:24498616}" "BslI+" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785030" "0" "99" "1" "43223453" "43223453" "subst" "0.000198973" "03704" "P3H1_000001" "g.43223453C>A" "" "{PMID:Pepin 2013:24498616}" "BslI+" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785031" "0" "99" "1" "43223453" "43223453" "subst" "0.000198973" "03704" "P3H1_000001" "g.43223453C>A" "" "{PMID:Pepin 2013:24498616}" "BslI+" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785032" "0" "99" "1" "43223453" "43223453" "subst" "0.000198973" "03704" "P3H1_000001" "g.43223453C>A" "" "{PMID:Pepin 2013:24498616}" "BslI+" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785033" "3" "99" "1" "43223453" "43223453" "subst" "0.000198973" "00085" "P3H1_000001" "g.43223453C>A" "" "{PMID:Rauch 2014:25086671}" "BslI+" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785034" "3" "99" "1" "43223453" "43223453" "subst" "0.000198973" "00085" "P3H1_000001" "g.43223453C>A" "" "{PMID:Barbirato 2015:26634552}" "BslI+" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785035" "3" "99" "1" "43223453" "43223453" "subst" "0.000198973" "00085" "P3H1_000001" "g.43223453C>A" "" "{PMID:Fratzl-Zelman 2016:27383115}" "BslI+" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785036" "3" "99" "1" "43223453" "43223453" "subst" "0.000198973" "00085" "P3H1_000001" "g.43223453C>A" "" "{PMID:Fratzl-Zelman 2016:27383115}" "BslI+" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785037" "3" "99" "1" "43223453" "43223453" "subst" "0.000198973" "00085" "P3H1_000001" "g.43223453C>A" "" "{PMID:Fratzl-Zelman 2016:27383115}" "BslI+" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785038" "3" "99" "1" "43223453" "43223453" "subst" "0.000198973" "01819" "P3H1_000001" "g.43223453C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785039" "0" "99" "1" "43223453" "43223453" "subst" "0.000198973" "03889" "P3H1_000001" "g.43223453C>A" "" "" "BslI+" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785040" "11" "99" "1" "43223453" "43223453" "subst" "0.000198973" "00085" "P3H1_000001" "g.43223453C>A" "" "{PMID:Santana 2018:30246063}" "BslI+" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785041" "0" "97" "1" "43221302" "43221302" "subst" "4.87393E-5" "00085" "P3H1_000026" "g.43221302T>C" "" "{PMID:Barbirato 2015:26634552}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785042" "0" "99" "1" "43221287" "43221287" "subst" "8.12229E-6" "00085" "P3H1_000016" "g.43221287G>A" "" "{PMID:Willaert 2008:19088120}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785043" "3" "99" "1" "43221269" "43221269" "subst" "8.1217E-6" "03704" "P3H1_000054" "g.43221269C>A" "" "{PMID:Pepin 2013:24498616}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785044" "0" "99" "1" "43221269" "43221269" "subst" "8.1217E-6" "03704" "P3H1_000054" "g.43221269C>A" "" "{PMID:Pepin 2013:24498616}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785045" "0" "99" "1" "43221219" "43221219" "subst" "8.12783E-6" "03704" "P3H1_000055" "g.43221219C>T" "" "{PMID:Pepin 2013:24498616}" "" "" "The variant at cDNA position 1170 in this patient, although predicted to be synonymous, has an effect on mRNA splicing," "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785046" "3" "79" "1" "43221219" "43221219" "subst" "0" "00085" "P3H1_000046" "g.43221219C>G" "" "{PMID:Mrosk 2018:29499418}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000785047" "3" "99" "1" "43221217" "43221217" "subst" "4.06379E-6" "03704" "P3H1_000012" "g.43221217A>T" "" "{PMID:Baldridge 2008:18566967}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785048" "3" "99" "1" "43221214" "43221214" "subst" "8.12935E-6" "03704" "P3H1_000013" "g.43221214C>G" "" "{PMID:Baldridge 2008:18566967}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785049" "3" "99" "1" "43221214" "43221214" "subst" "8.12935E-6" "03704" "P3H1_000013" "g.43221214C>G" "" "{PMID:Pepin 2013:24498616}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785050" "3" "99" "1" "43221214" "43221214" "subst" "8.12935E-6" "03704" "P3H1_000013" "g.43221214C>G" "" "{PMID:Pepin 2013:24498616}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785051" "0" "99" "1" "43221214" "43221214" "subst" "8.12935E-6" "03704" "P3H1_000013" "g.43221214C>G" "" "{PMID:Pepin 2013:24498616}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785052" "3" "99" "1" "43220834" "43220834" "subst" "0" "03864" "P3H1_000056" "g.43220834A>C" "" "{PMID:Caparrós-Martin 2013:23613367}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785053" "0" "99" "1" "43220641" "43220641" "dup" "0" "03704" "P3H1_000057" "g.43220641dup" "" "{PMID:Pepin 2013:24498616}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785054" "0" "99" "1" "43220585" "43220585" "subst" "4.06091E-6" "03704" "P3H1_000058" "g.43220585C>A" "" "{PMID:Pepin 2013:24498616}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785055" "3" "99" "1" "43220540" "43220540" "subst" "0" "03704" "P3H1_000059" "g.43220540C>T" "" "{PMID:Pepin 2013:24498616}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785056" "3" "99" "1" "43220540" "43220540" "subst" "0" "03704" "P3H1_000060" "g.43220540C>G" "" "{PMID:Pepin 2013:24498616}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785057" "3" "99" "1" "43218336" "43218336" "subst" "0" "00085" "P3H1_000043" "g.43218336C>G" "" "{PMID:Mrosk 2018:29499418}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785058" "0" "99" "1" "43218336" "43218336" "subst" "0" "00085" "P3H1_000043" "g.43218336C>G" "" "{PMID:Mrosk 2018:29499418}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785059" "0" "99" "1" "43218336" "43218336" "subst" "0" "00085" "P3H1_000043" "g.43218336C>G" "" "{PMID:Mrosk 2018:29499418}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785060" "3" "99" "1" "43218172" "43218675" "del" "0" "03704" "P3H1_000011" "g.43218172_43218675del" "" "{PMID:Baldridge 2008:18566967}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785061" "3" "99" "1" "43218172" "43218675" "del" "0" "00085" "P3H1_000011" "g.43218172_43218675del" "" "{PMID:Fratzl-Zelman 2016:27383115}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785062" "3" "99" "1" "43218315" "43218316" "delins" "0" "00085" "P3H1_000014" "g.43218315_43218316delinsG" "" "{PMID:Willaert 2008:19088120}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785063" "3" "99" "1" "43218292" "43218298" "dup" "0" "03704" "P3H1_000010" "g.43218292_43218298dup" "" "{PMID:Baldridge 2008:18566967}" "Hpy188I+" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785064" "11" "99" "1" "43218292" "43218298" "dup" "0" "00085" "P3H1_000010" "g.43218292_43218298dup" "" "{PMID:Chang 2010:19846465}" "Hpy188I+" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785065" "0" "99" "1" "43218222" "43218222" "subst" "4.06081E-6" "03704" "P3H1_000062" "g.43218222G>A" "" "{PMID:Pepin 2013:24498616}" "" "" "The variant at cDNA position 1170 in this patient, although predicted to be synonymous, has an effect on mRNA splicing," "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785066" "0" "99" "1" "43218215" "43218215" "subst" "0" "00085" "P3H1_000063" "g.43218215A>G" "" "{PMID:Zhang 2011:21667357}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785067" "11" "99" "1" "43218207" "43218207" "subst" "0" "00085" "P3H1_000002" "g.43218207C>A" "" "{PMID:Cabral 2007:17277775}" "MseI+" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785068" "0" "99" "1" "43218205" "43218205" "subst" "0" "00085" "P3H1_000064" "g.43218205T>G" "" "{PMID:Zhang 2011:21667357}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785069" "0" "33" "1" "43218013" "43218013" "subst" "0.000536119" "00085" "P3H1_000029" "g.43218013G>A" "" "{PMID:Barbirato 2015:26634552}" "" "" "This variant has been found in OI patients and in normal controls." "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000785070" "0" "51" "1" "43217997" "43217997" "subst" "0.000353314" "00085" "P3H1_000024" "g.43217997G>C" "" "" "" "" "" "Germline" "" "rs3738501" "0" "" "" "" "" "VUS" "" "0000785071" "0" "99" "1" "43217959" "43217960" "del" "0" "03704" "P3H1_000065" "g.43217959_43217960del" "" "{PMID:Pepin 2013:24498616}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785072" "3" "99" "1" "43215941" "43215941" "subst" "0" "00085" "P3H1_000047" "g.43215941G>A" "" "{PMID:Mrosk 2018:29499418}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785073" "3" "79" "1" "43215941" "43215941" "subst" "0" "00085" "P3H1_000047" "g.43215941G>A" "" "{PMID:Mrosk 2018:29499418}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000785074" "21" "99" "1" "43215931" "43215931" "subst" "0" "00085" "P3H1_000039" "g.43215931A>C" "" "{PMID:Santana 2018:30246063}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785075" "0" "33" "1" "43215930" "43215930" "subst" "0.0679875" "00085" "P3H1_000030" "g.43215930C>T" "" "{PMID:Barbirato 2015:26634552}" "" "" "This variant has been found in OI patients and in normal controls." "Germline" "" "rs11581921" "0" "" "" "" "" "likely benign" "" "0000785076" "3" "99" "1" "43215921" "43215921" "subst" "0" "00085" "P3H1_000004" "g.43215921G>T" "" "{PMID:Cabral 2007:17277775}" "Tsp509I+" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785077" "0" "99" "1" "43215902" "43215902" "dup" "0" "00085" "P3H1_000066" "g.43215902dup" "" "{PMID:Zhang 2011:21667357}" "" "c.1675dupC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785078" "0" "51" "1" "43215861" "43215861" "subst" "0.00137461" "00085" "P3H1_000022" "g.43215861G>A" "" "" "" "" "" "Germline" "" "rs35500164" "0" "" "" "" "" "VUS" "" "0000785079" "0" "99" "1" "43215852" "43215852" "subst" "0" "03704" "P3H1_000067" "g.43215852C>T" "" "{PMID:Pepin 2013:24498616}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785080" "0" "11" "1" "43215805" "43215805" "subst" "0" "00085" "P3H1_000028" "g.43215805G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000785081" "0" "11" "1" "43213897" "43213897" "subst" "0.00378551" "00085" "P3H1_000021" "g.43213897G>A" "" "" "" "" "" "Germline" "" "rs34809608" "0" "" "" "" "" "benign" "" "0000785082" "0" "11" "1" "43213499" "43213499" "subst" "0.602578" "00085" "P3H1_000031" "g.43213499C>T" "" "{PMID:Barbirato 2015:26634552}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000785083" "3" "99" "1" "43213393" "43213393" "subst" "0" "00085" "P3H1_000053" "g.43213393C>T" "" "{PMID:Scollo 2018:29329516}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785084" "0" "99" "1" "43213869" "43213869" "subst" "0" "00085" "P3H1_000052" "g.43213869A>G" "" "{PMID:Mohd Nawawi 2018:29807018}" "" "" "P3H1 sequence variants are normally recessive. The single variant in this patient probably does not account alone for the OI phenotype." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785085" "3" "99" "1" "43213426" "43213427" "del" "4.06055E-6" "03704" "P3H1_000068" "g.43213426_43213427del" "" "{PMID:Pepin 2013:24498616}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785086" "0" "99" "1" "43213426" "43213427" "del" "4.06055E-6" "03704" "P3H1_000068" "g.43213426_43213427del" "" "{PMID:Pepin 2013:24498616}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785087" "0" "99" "1" "43213393" "43213393" "subst" "0" "03704" "P3H1_000053" "g.43213393C>T" "" "{PMID:Pepin 2013:24498616}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785088" "0" "99" "1" "43213393" "43213393" "subst" "0" "03704" "P3H1_000053" "g.43213393C>T" "" "{PMID:Pepin 2013:24498616}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785089" "3" "99" "1" "43213393" "43213393" "subst" "0" "00085" "P3H1_000053" "g.43213393C>T" "" "{PMID:Scollo 2018:29329516}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785090" "0" "11" "1" "43213103" "43213103" "subst" "0.0691792" "00085" "P3H1_000032" "g.43213103A>C" "" "{PMID:Barbirato 2015:26634552}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000785091" "0" "99" "1" "43213084" "43213084" "subst" "0" "00085" "P3H1_000070" "g.43213084C>T" "" "{PMID:Zhang 2011:21667357}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785092" "21" "99" "1" "43213064" "43213074" "del" "0" "00085" "P3H1_000018" "g.43213064_43213074del" "" "{PMID:Chang 2010:19846465}" "BslI-" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785093" "0" "51" "1" "43213068" "43213068" "subst" "0.00497113" "00085" "P3H1_000020" "g.43213068G>T" "" "" "" "" "" "Germline" "" "rs3738497" "0" "" "" "" "" "VUS" "" "0000785094" "0" "15" "1" "43213050" "43213050" "subst" "4.12504E-6" "03889" "P3H1_000038" "g.43213050C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000785095" "0" "99" "1" "43213002" "43213002" "del" "0" "03704" "P3H1_000071" "g.43213002del" "" "{PMID:Pepin 2013:24498616}" "" "c.1996delA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785096" "3" "99" "1" "43212984" "43212984" "dup" "0" "03704" "P3H1_000072" "g.43212984dup" "" "{PMID:Pepin 2013:24498616}" "" "" "The variant in this patient was incorrectly described by the authors as an insertion, rather than as a duplication." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785097" "21" "97" "1" "43212974" "43212974" "subst" "4.07425E-6" "00085" "P3H1_000027" "g.43212974C>A" "" "{PMID:Barbirato 2015:26634552}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785098" "3" "99" "1" "43212957" "43212957" "subst" "0" "03704" "P3H1_000008" "g.43212957G>A" "" "{PMID:Baldridge 2008:18566967}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785099" "3" "99" "1" "43212957" "43212957" "subst" "0" "03704" "P3H1_000008" "g.43212957G>A" "" "{PMID:Pepin 2013:24498616}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785100" "3" "99" "1" "43212957" "43212957" "subst" "0" "00085" "P3H1_000008" "g.43212957G>A" "" "{PMID:Chandler 2018:29595812}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785101" "0" "11" "1" "43212926" "43212926" "subst" "0.0455392" "00085" "P3H1_000033" "g.43212926G>A" "" "{PMID:Barbirato 2015:26634552}" "" "" "This variant has been found in OI patients and in normal controls." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000785102" "0" "99" "1" "43212925" "43212925" "subst" "4.06428E-6" "00085" "P3H1_000017" "g.43212925C>T" "" "{PMID:Willaert 2008:19088120}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785103" "3" "99" "1" "43212925" "43212925" "subst" "4.06428E-6" "00085" "P3H1_000017" "g.43212925C>T" "" "{PMID:Willaert 2008:19088120}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785104" "0" "11" "1" "43212869" "43212869" "subst" "0.129955" "00085" "P3H1_000034" "g.43212869A>T" "" "{PMID:Barbirato 2015:26634552}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000785105" "3" "99" "1" "43212524" "43212524" "subst" "0" "00085" "P3H1_000073" "g.43212524C>T" "" "{PMID:Shaheen 2012:23054245}" "" "" "The variant in this patient is presented as NM_001146289.1:c.2075-1G>A by {PMID23054245:Shaheen et al., 2012}." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785106" "0" "99" "1" "43212436" "43212436" "subst" "0" "00085" "P3H1_000044" "g.43212436G>A" "" "{PMID:Mrosk 2018:29499418}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785107" "0" "99" "1" "43212430" "43212431" "delins" "0" "03704" "P3H1_000074" "g.43212430_43212431delinsT" "" "{PMID:Pepin 2013:24498616}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785108" "21" "99" "1" "43212424" "43212424" "dup" "0" "00085" "P3H1_000075" "g.43212424dup" "" "{PMID:Takagi 2012:22615817}" "" "c.2155dupC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785109" "21" "99" "1" "43212415" "43212415" "subst" "0" "00085" "P3H1_000036" "g.43212415G>A" "" "{PMID:Huang 2017:27864101}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785110" "0" "51" "1" "43212295" "43212295" "subst" "0" "00085" "P3H1_000019" "g.43212295G>A" "" "" "" "" "" "Germline" "" "rs4660662" "0" "" "" "" "" "VUS" "" "0000799367" "0" "30" "1" "43212449" "43212449" "subst" "1.15501E-5" "02329" "P3H1_000115" "g.43212449G>A" "" "" "" "P3H1(NM_022356.3):c.2130C>T (p.P710=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000830822" "3" "90" "1" "43232505" "43232505" "subst" "0" "00006" "P3H1_000061" "g.43232505G>T" "" "{PMID:Rauch 2014:25086671}" "" "" "" "Germline" "" "" "0" "" "" "g.42766834G>T" "" "pathogenic" "" "0000833239" "0" "99" "1" "43212382" "43212382" "subst" "0" "03897" "P3H1_000116" "g.43212382T>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000833240" "21" "99" "1" "43221214" "43221214" "subst" "8.12935E-6" "03897" "P3H1_000013" "g.43221214C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000833241" "11" "99" "1" "43221214" "43221214" "subst" "8.12935E-6" "03897" "P3H1_000013" "g.43221214C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000833242" "21" "90" "1" "43213064" "43213064" "subst" "0" "03897" "P3H1_000117" "g.43213064C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000848740" "0" "30" "1" "43225027" "43225027" "subst" "1.21868E-5" "01804" "P3H1_000118" "g.43225027T>G" "" "" "" "LEPRE1(NM_001146289.1):c.653A>C (p.(Glu218Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857498" "0" "90" "1" "43223453" "43223453" "subst" "0.000198973" "02329" "P3H1_000001" "g.43223453C>A" "" "" "" "P3H1(NM_022356.3):c.1080+1G>T, P3H1(NM_022356.4):c.1080+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000883455" "0" "30" "1" "43213068" "43213068" "subst" "0.00497113" "01804" "P3H1_000020" "g.43213068G>T" "" "" "" "LEPRE1(NM_001146289.1):c.1930C>A (p.(Gln644Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883456" "0" "30" "1" "43213866" "43213866" "subst" "0.000285794" "01804" "P3H1_000119" "g.43213866C>A" "" "" "" "LEPRE1(NM_001146289.1):c.1838+5G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883457" "0" "50" "1" "43213903" "43213903" "subst" "0.000678884" "01804" "P3H1_000120" "g.43213903T>G" "" "" "" "LEPRE1(NM_001146289.1):c.1806A>C (p.(Lys602Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883458" "0" "10" "1" "43215951" "43215951" "subst" "0.00268424" "02329" "P3H1_000121" "g.43215951C>T" "" "" "" "P3H1(NM_022356.3):c.1626G>A (p.T542=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883459" "0" "30" "1" "43220642" "43220642" "subst" "0.000101533" "01804" "P3H1_000122" "g.43220642C>T" "" "" "" "LEPRE1(NM_001146289.1):c.1243G>A (p.(Val415Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883460" "0" "30" "1" "43224504" "43224504" "subst" "2.43685E-5" "02329" "P3H1_000123" "g.43224504G>C" "" "" "" "P3H1(NM_022356.3):c.940+19C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911074" "0" "10" "1" "43212930" "43212930" "subst" "0.00183711" "02329" "P3H1_000124" "g.43212930G>C" "" "" "" "P3H1(NM_022356.3):c.2055+13C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000911075" "0" "10" "1" "43215861" "43215861" "subst" "0.00137461" "02329" "P3H1_000022" "g.43215861G>A" "" "" "" "P3H1(NM_022356.3):c.1716C>T (p.I572=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000918449" "3" "90" "1" "43213393" "43213393" "subst" "0" "04465" "P3H1_000125" "g.43213393C>G" "" "{PMID:de Souza:33098264}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000918853" "3" "90" "1" "43212438" "43212438" "subst" "0" "04465" "P3H1_000126" "g.43212438T>C" "" "{PMID:Kantaputra 2021:33737016}" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic (recessive)" "" "0000918854" "3" "90" "1" "43212438" "43212438" "subst" "0" "04465" "P3H1_000126" "g.43212438T>C" "" "{PMID:Kantaputra 2021:33737016}" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic (recessive)" "" "0000918855" "3" "90" "1" "43212438" "43212438" "subst" "0" "04465" "P3H1_000126" "g.43212438T>C" "" "{PMID:Kantaputra 2021:33737016}" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic (recessive)" "" "0000918856" "3" "90" "1" "43212438" "43212438" "subst" "0" "04465" "P3H1_000126" "g.43212438T>C" "" "{PMID:Kantaputra 2021:33737016}" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic (recessive)" "" "0000919566" "0" "90" "1" "43223483" "43223483" "subst" "0" "04465" "P3H1_000127" "g.43223483C>A" "" "{PMID:Nadyrshina 2022:3505246}" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "" "0000922744" "3" "90" "1" "43212857" "43212857" "subst" "0" "04465" "P3H1_000128" "g.43212857T>C" "" "{PMID:Kantaputra 2023:36833249}" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic (recessive)" "" "0000922754" "3" "90" "1" "43212857" "43212857" "subst" "0" "04465" "P3H1_000128" "g.43212857T>C" "" "{PMID:Kantaputra 2023:36833249}" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic (recessive)" "" "0000922755" "3" "90" "1" "43212857" "43212857" "subst" "0" "04465" "P3H1_000128" "g.43212857T>C" "" "{PMID:Kantaputra 2023:36833249}" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic (recessive)" "" "0000922756" "3" "90" "1" "43212857" "43212857" "subst" "0" "04465" "P3H1_000128" "g.43212857T>C" "" "{PMID:Kantaputra 2023:36833249}" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic (recessive)" "" "0000922757" "3" "90" "1" "43212857" "43212857" "subst" "0" "04465" "P3H1_000128" "g.43212857T>C" "" "{PMID:Kantaputra 2023:36833249}" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic (recessive)" "" "0000922758" "3" "90" "1" "43212857" "43212857" "subst" "0" "04465" "P3H1_000128" "g.43212857T>C" "" "{PMID:Kantaputra 2023:36833249}" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic (recessive)" "" "0000922789" "3" "90" "1" "43212857" "43212857" "subst" "0" "04465" "P3H1_000128" "g.43212857T>C" "" "{PMID:Kantaputra 2023:36833249}" "" "" "" "Germline" "" "" "0" "" "" "g.42747186T>C" "" "pathogenic (recessive)" "" "0000922790" "3" "90" "1" "43212857" "43212857" "subst" "0" "04465" "P3H1_000128" "g.43212857T>C" "" "{PMID:Kantaputra 2023:36833249}" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic (recessive)" "" "0000922791" "3" "90" "1" "43212857" "43212857" "subst" "0" "04465" "P3H1_000128" "g.43212857T>C" "" "{PMID:Kantaputra 2023:36833249}" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic (recessive)" "" "0000922792" "3" "90" "1" "43212857" "43212857" "subst" "0" "04465" "P3H1_000128" "g.43212857T>C" "" "{PMID:Kantaputra 2023:36833249}" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic (recessive)" "" "0000922793" "3" "90" "1" "43212857" "43212857" "subst" "0" "04465" "P3H1_000128" "g.43212857T>C" "" "{PMID:Kantaputra 2023:36833249}" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic (recessive)" "" "0000927473" "3" "90" "1" "43225052" "43225052" "subst" "1.22031E-5" "04465" "P3H1_000015" "g.43225052G>A" "" "{PMID:Kalayci 2023:36398383}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.42759381G>A" "" "pathogenic (recessive)" "" "0000927474" "3" "90" "1" "43225052" "43225052" "subst" "1.22031E-5" "04465" "P3H1_000015" "g.43225052G>A" "" "{PMID:Kalayci 2023:36398383}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000928177" "0" "30" "1" "43220577" "43220577" "subst" "2.03049E-5" "02329" "P3H1_000129" "g.43220577G>A" "" "" "" "P3H1(NM_022356.3):c.1308C>T (p.T436=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000936264" "0" "50" "1" "43218238" "43218238" "subst" "8.12156E-6" "00006" "P3H1_000130" "g.43218238G>A" "" "{PMID:Hamdan 2017:29100083}" "" "NM_022356:c.C1443T (H481H)" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000961048" "0" "30" "1" "43215836" "43215836" "subst" "5.04214E-5" "02329" "P3H1_000131" "g.43215836T>C" "" "" "" "P3H1(NM_022356.3):c.1720+21A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961049" "0" "30" "1" "43228263" "43228263" "subst" "0" "02329" "P3H1_000132" "g.43228263C>T" "" "" "" "P3H1(NM_022356.3):c.466-117G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973965" "0" "30" "1" "43215830" "43215830" "subst" "0.000102246" "02329" "P3H1_000133" "g.43215830G>A" "" "" "" "P3H1(NM_022356.3):c.1720+27C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973966" "0" "30" "1" "43223508" "43223508" "subst" "0.00378047" "01804" "P3H1_000101" "g.43223508G>A" "" "" "" "P3H1(NM_022356.3):c.1026C>T (p.A342=), P3H1(NM_022356.4):c.1026C>T (p.(Ala342=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973967" "0" "10" "1" "43223556" "43223556" "subst" "0.00287902" "01804" "P3H1_000134" "g.43223556G>A" "" "" "" "P3H1(NM_022356.4):c.978C>T (p.(Thr326=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000973968" "0" "50" "1" "43223563" "43223563" "subst" "1.62431E-5" "01804" "P3H1_000135" "g.43223563G>A" "" "" "" "P3H1(NM_022356.4):c.971C>T (p.(Ala324Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991293" "0" "90" "1" "43212430" "43212430" "del" "0" "02329" "P3H1_000136" "g.43212430del" "" "" "" "P3H1(NM_022356.3):c.2154delC (p.E719Nfs*29)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000991294" "0" "30" "1" "43212431" "43212431" "subst" "6.30787E-6" "02329" "P3H1_000137" "g.43212431A>T" "" "" "" "P3H1(NM_022356.3):c.2148T>A (p.G716=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991295" "0" "30" "1" "43212714" "43212714" "subst" "7.79404E-5" "01804" "P3H1_000138" "g.43212714C>T" "" "" "" "LEPRE1(NM_001243246.1):c.2284G>A (p.(Asp762Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991296" "0" "30" "1" "43218030" "43218030" "subst" "0" "01804" "P3H1_000139" "g.43218030G>A" "" "" "" "LEPRE1(NM_022356.3):c.1484C>T (p.(Thr495Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032053" "0" "50" "1" "43212992" "43212992" "subst" "4.0873E-5" "01804" "P3H1_000140" "g.43212992C>T" "" "" "" "P3H1(NM_022356.4):c.2006G>A (p.(Arg669His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032054" "0" "30" "1" "43213992" "43213992" "subst" "0.000296934" "01804" "P3H1_000095" "g.43213992G>A" "" "" "" "P3H1(NM_022356.3):c.1721-4C>T, P3H1(NM_022356.4):c.1721-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032055" "0" "50" "1" "43220661" "43220661" "subst" "4.46733E-5" "01804" "P3H1_000141" "g.43220661C>T" "" "" "" "P3H1(NM_022356.4):c.1224G>A (p.(Lys408=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032056" "0" "50" "1" "43223462" "43223462" "subst" "4.46671E-5" "01804" "P3H1_000142" "g.43223462G>T" "" "" "" "P3H1(NM_022356.4):c.1072C>A (p.(Pro358Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032057" "0" "30" "1" "43224864" "43224865" "delins" "0" "01804" "P3H1_000143" "g.43224864_43224865delinsAT" "" "" "" "P3H1(NM_022356.4):c.808+7_808+8delinsAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032058" "0" "30" "1" "43224865" "43224865" "subst" "0.000304588" "01804" "P3H1_000144" "g.43224865C>T" "" "" "" "P3H1(NM_022356.4):c.808+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045683" "0" "90" "1" "43220535" "43220547" "del" "0" "02325" "P3H1_000145" "g.43220535_43220547del" "" "" "" "P3H1(NM_022356.4):c.1338_1345+5delCCGGGAAGGTGAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001045684" "0" "90" "1" "43223453" "43223453" "subst" "0.000198973" "02325" "P3H1_000001" "g.43223453C>A" "" "" "" "P3H1(NM_022356.3):c.1080+1G>T, P3H1(NM_022356.4):c.1080+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001048302" "3" "50" "1" "43232197" "43232197" "subst" "0" "00006" "P3H1_000147" "g.43232197A>C" "" "{PMID:Tuysuz 2022:34902613}" "" "" "ACMG PVS1, PM2, PP3, PP1" "Germline" "" "" "0" "" "" "g.42766526A>C" "" "VUS" "" "0001048303" "3" "50" "1" "43232197" "43232197" "subst" "0" "00006" "P3H1_000147" "g.43232197A>C" "" "{PMID:Tuysuz 2022:34902613}" "" "" "ACMG PVS1, PM2, PP3, PP5. PP1" "Germline" "" "" "0" "" "" "g.42766526A>C" "" "VUS" "" "0001048304" "3" "50" "1" "43232197" "43232197" "subst" "0" "00006" "P3H1_000147" "g.43232197A>C" "" "{PMID:Tuysuz 2022:34902613}" "" "" "ACMG PVS1, PM2,PP3, PP5" "Germline" "" "" "0" "" "" "g.42766526A>C" "" "VUS" "" "0001048305" "3" "50" "1" "43232197" "43232197" "subst" "0" "00006" "P3H1_000147" "g.43232197A>C" "" "{PMID:Tuysuz 2022:34902613}" "" "" "ACMG PS1, PM2, PM5, PP2, PP3,PP1" "Germline" "" "" "0" "" "" "g.42766526A>C" "" "VUS" "" "0001048306" "3" "50" "1" "43225045" "43225045" "subst" "0" "00006" "P3H1_000146" "g.43225045C>T" "" "{PMID:Tuysuz 2022:34902613}" "" "" "ACMG PVS1, PM2, PP5" "Germline" "" "" "0" "" "" "g.42759374C>T" "" "VUS" "" "0001048307" "3" "50" "1" "43232197" "43232197" "subst" "0" "00006" "P3H1_000147" "g.43232197A>C" "" "{PMID:Tuysuz 2022:34902613}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.42766526A>C" "" "VUS" "" "0001048308" "3" "50" "1" "43232197" "43232197" "subst" "0" "00006" "P3H1_000147" "g.43232197A>C" "" "{PMID:Tuysuz 2022:34902613}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.42766526A>C" "" "VUS" "" "0001048309" "3" "50" "1" "43232197" "43232197" "subst" "0" "00006" "P3H1_000147" "g.43232197A>C" "" "{PMID:Tuysuz 2022:34902613}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.42766526A>C" "" "VUS" "" "0001048310" "3" "50" "1" "43232197" "43232197" "subst" "0" "00006" "P3H1_000147" "g.43232197A>C" "" "{PMID:Tuysuz 2022:34902613}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.42766526A>C" "" "VUS" "" "0001048311" "3" "50" "1" "43225045" "43225045" "subst" "0" "00006" "P3H1_000146" "g.43225045C>T" "" "{PMID:Tuysuz 2022:34902613}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.42759374C>T" "" "VUS" "" "0001048312" "3" "50" "1" "43225045" "43225045" "subst" "0" "00006" "P3H1_000146" "g.43225045C>T" "" "{PMID:Tuysuz 2022:34902613}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.42759374C>T" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes P3H1 ## Count = 248 "{{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}}" "0000000093" "00000180" "50" "640" "0" "640" "0" "c.640C>T" "r.(?)" "p.(Arg214*)" "" "0000130108" "00000180" "90" "2056" "-1" "2056" "-1" "c.2056-1G>A" "r.spl?" "p.?" "" "0000250081" "00000180" "10" "2148" "0" "2148" "0" "c.2148=" "r.(=)" "p.(Gly716=)" "" "0000250188" "00000180" "10" "1915" "-20" "1915" "-20" "c.1915-20T>G" "r.(=)" "p.(=)" "" "0000283543" "00000180" "10" "1045" "0" "1045" "0" "c.1045G>A" "r.(?)" "p.(Gly349Arg)" "" "0000283544" "00000180" "10" "139" "0" "139" "0" "c.139G>T" "r.(?)" "p.(Ala47Ser)" "" "0000283545" "00000180" "10" "1647" "0" "1647" "0" "c.1647G>A" "r.(?)" "p.(Met549Ile)" "" "0000283546" "00000180" "10" "2055" "17" "2055" "17" "c.2055+17C>T" "r.(=)" "p.(=)" "" "0000283547" "00000180" "30" "75" "0" "75" "0" "c.75G>C" "r.(?)" "p.(Glu25Asp)" "" "0000298773" "00000180" "30" "1322" "0" "1322" "0" "c.1322A>G" "r.(?)" "p.(Asp441Gly)" "" "0000298774" "00000180" "30" "1838" "8" "1838" "8" "c.1838+8C>T" "r.(=)" "p.(=)" "" "0000298775" "00000180" "30" "693" "0" "693" "0" "c.693G>A" "r.(?)" "p.(Ala231=)" "" "0000507473" "00000180" "90" "2112" "0" "2169" "0" "c.2112_2169del" "r.(?)" "p.(Glu708AlafsTer21)" "" "0000507474" "00000180" "10" "2148" "0" "2148" "0" "c.2148=" "r.(=)" "p.(Gly716=)" "" "0000507476" "00000180" "30" "2055" "193" "2055" "193" "c.2055+193G>A" "r.(=)" "p.(=)" "" "0000507477" "00000180" "30" "2055" "70" "2055" "70" "c.2055+70G>T" "r.(=)" "p.(=)" "" "0000507479" "00000180" "10" "1812" "0" "1812" "0" "c.1812C>T" "r.(?)" "p.(Pro604=)" "" "0000507480" "00000180" "30" "1721" "-4" "1721" "-4" "c.1721-4C>T" "r.spl?" "p.?" "" "0000507481" "00000180" "50" "1660" "0" "1660" "0" "c.1660C>T" "r.(?)" "p.(Arg554Cys)" "" "0000507482" "00000180" "31" "1569" "3" "1569" "3" "c.1569+3A>G" "r.spl?" "p.?" "" "0000507483" "00000180" "10" "1569" "3" "1569" "3" "c.1569+3A>G" "r.spl?" "p.?" "" "0000507486" "00000180" "30" "1367" "0" "1367" "0" "c.1367G>A" "r.(?)" "p.(Gly456Asp)" "" "0000507487" "00000180" "30" "1322" "0" "1322" "0" "c.1322A>G" "r.(?)" "p.(Asp441Gly)" "" "0000507488" "00000180" "10" "1284" "0" "1284" "0" "c.1284C>T" "r.(?)" "p.(Ile428=)" "" "0000507490" "00000180" "10" "1026" "0" "1026" "0" "c.1026C>T" "r.(?)" "p.(Ala342=)" "" "0000507492" "00000180" "30" "611" "0" "611" "0" "c.611C>A" "r.(?)" "p.(Pro204His)" "" "0000620641" "00000180" "30" "1926" "0" "1926" "0" "c.1926G>A" "r.(?)" "p.(Gln642=)" "" "0000647696" "00000180" "50" "1504" "0" "1504" "0" "c.1504G>C" "r.(?)" "p.(Gly502Arg)" "" "0000647697" "00000180" "10" "139" "0" "139" "0" "c.139G>T" "r.(?)" "p.(Ala47Ser)" "" "0000654041" "00000180" "30" "629" "0" "629" "0" "c.629G>A" "r.(?)" "p.(Arg210Gln)" "" "0000669019" "00000180" "10" "139" "0" "139" "0" "c.139G>T" "r.(?)" "p.(Ala47Ser)" "" "0000688176" "00000180" "30" "2164" "0" "2164" "0" "c.2164C>A" "r.(?)" "p.(Gln722Lys)" "" "0000688177" "00000180" "30" "2055" "47" "2055" "47" "c.2055+47C>G" "r.(=)" "p.(=)" "" "0000688178" "00000180" "30" "1720" "349" "1720" "349" "c.1720+349C>G" "r.(=)" "p.(=)" "" "0000688179" "00000180" "50" "148" "0" "148" "0" "c.148G>A" "r.(?)" "p.(Asp50Asn)" "" "0000712618" "00000180" "99" "628" "0" "628" "0" "c.628C>T" "r.(?)" "p.(Arg210*)" "" "0000712619" "00000180" "77" "2055" "18" "2055" "18" "c.2055+18G>A" "r.spl?" "p.?" "" "0000712630" "00000180" "55" "1667" "0" "1667" "0" "c.1667A>G" "r.(?)" "p.(Asp556Gly)" "" "0000717492" "00000180" "10" "1570" "-314" "1570" "-314" "c.1570-314G>C" "r.(=)" "p.(=)" "" "0000717493" "00000180" "10" "611" "0" "611" "0" "c.611C>A" "r.(?)" "p.(Pro204His)" "" "0000730000" "00000180" "90" "1839" "-2" "1839" "-2" "c.1839-2A>C" "r.spl?" "p.?" "" "0000730001" "00000180" "90" "2056" "-1" "2056" "-1" "c.2056-1G>A" "r.spl?" "p.?" "" "0000730002" "00000180" "90" "1839" "-2" "1839" "-2" "c.1839-2A>C" "r.spl?" "p.?" "" "0000730003" "00000180" "90" "2056" "-1" "2056" "-1" "c.2056-1G>A" "r.spl?" "p.?" "" "0000730004" "00000180" "90" "2056" "-1" "2056" "-1" "c.2056-1G>A" "r.spl?" "p.?" "" "0000730005" "00000180" "90" "570" "0" "571" "0" "c.570_571del" "r.(?)" "p.(Gly191Serfs*10)" "" "0000784975" "00000180" "99" "9" "0" "9" "0" "c.9dup" "r.(?)" "p.(Arg4Thrfs*33)" "1" "0000784976" "00000180" "99" "26" "0" "26" "0" "c.26T>C" "r.(?)" "p.Leu9Pro" "1" "0000784977" "00000180" "99" "26" "0" "26" "0" "c.26T>C" "r.(?)" "p.Leu9Pro" "1" "0000784978" "00000180" "99" "95" "0" "99" "0" "c.95_99delinsA" "r.(?)" "p.(Met32Lysfs*24)" "1" "0000784979" "00000180" "99" "105" "0" "120" "0" "c.105_120del" "r.(?)" "p.(Asp36Argfs*16)" "1" "0000784980" "00000180" "99" "138" "0" "138" "0" "c.138C>A" "r.(?)" "c.(Tyr46*)" "1" "0000784981" "00000180" "99" "232" "0" "232" "0" "c.232del" "r.(?)" "p.(Gln78Serfs*30)" "1" "0000784982" "00000180" "99" "232" "0" "232" "0" "c.232del" "r.(?)" "p.(Gln78Serfs*30)" "1" "0000784983" "00000180" "99" "232" "0" "232" "0" "c.232del" "r.(?)" "p.(Gln78Serfs*30)" "1" "0000784984" "00000180" "99" "232" "0" "232" "0" "c.232del" "r.(?)" "p.(Gln78Serfs*30)" "1" "0000784985" "00000180" "99" "392" "0" "392" "0" "c.392C>A" "r.(?)" "p.(Ser131*)" "1" "0000784986" "00000180" "99" "401" "0" "402" "0" "c.401_402del" "r.(?)" "p.(Glu134Glyfs*41)" "1" "0000784987" "00000180" "99" "428" "0" "428" "0" "c.428G>C" "r.(?)" "p.(Arg143Pro)" "1" "0000784988" "00000180" "99" "439" "0" "441" "0" "c.439_441del" "r.(?)" "p.(Asn147del)" "1" "0000784989" "00000180" "99" "484" "0" "484" "0" "c.484del" "r.(?)" "p.(Ala162Leufs*22)" "2" "0000784990" "00000180" "99" "570" "0" "571" "0" "c.570_571del" "r.(?)" "p.(Gly191Serfs*10)" "2" "0000784991" "00000180" "99" "618" "1" "618" "1" "c.618+1G>A" "r.spl" "p.?" "2i" "0000784992" "00000180" "99" "628" "0" "628" "0" "c.628C>T" "r.(?)" "p.(Arg210*)" "3" "0000784993" "00000180" "99" "747" "0" "747" "0" "c.747del" "r.(?)" "p.(Tyr250Metfs*87)" "3" "0000784994" "00000180" "99" "765" "0" "765" "0" "c.765C>A" "r.(?)" "p.(Tyr255*)" "3" "0000784995" "00000180" "99" "765" "0" "765" "0" "c.765C>A" "r.(?)" "p.(Tyr255*)" "3" "0000784996" "00000180" "99" "838" "0" "838" "0" "c.838C>T" "r.(?)" "p.(Gln280*)" "4" "0000784997" "00000180" "79" "879" "0" "880" "0" "c.879_880del" "r.(?)" "p.(Lys294Alafs*3)" "4" "0000784998" "00000180" "99" "927" "0" "927" "0" "c.927del" "r.(?)" "p.(Phe309Leufs*28)" "4" "0000784999" "00000180" "99" "933" "0" "933" "0" "c.933C>G" "r.(?)" "p.(Tyr311*)" "4" "0000785000" "00000180" "99" "1026" "0" "1026" "0" "c.1026del" "r.(?)" "p.(Tyr343Ilefs*56)" "5" "0000785001" "00000180" "73" "1045" "0" "1045" "0" "c.1045G>A" "r.(?)" "p.(Gly349Arg)" "5" "0000785002" "00000180" "99" "1080" "1" "1080" "1" "c.1080+1G>T" "r.spl" "p.?" "5i" "0000785003" "00000180" "99" "1080" "1" "1080" "1" "c.1080+1G>T" "r.spl" "p.?" "5i" "0000785004" "00000180" "99" "1080" "1" "1080" "1" "c.1080+1G>T" "r.spl" "p.?" "5i" "0000785005" "00000180" "99" "1080" "1" "1080" "1" "c.1080+1G>T" "r.spl" "p.?" "5i" "0000785006" "00000180" "99" "1080" "1" "1080" "1" "c.1080+1G>T" "r.spl" "p.?" "5i" "0000785007" "00000180" "99" "1080" "1" "1080" "1" "c.1080+1G>T" "r.spl" "p.?" "5i" "0000785008" "00000180" "99" "1080" "1" "1080" "1" "c.1080+1G>T" "r.spl" "p.?" "5i" "0000785009" "00000180" "99" "1080" "1" "1080" "1" "c.1080+1G>T" "r.spl" "p.?" "5i" "0000785010" "00000180" "99" "1080" "1" "1080" "1" "c.1080+1G>T" "r.spl" "p.?" "5i" "0000785011" "00000180" "99" "1080" "1" "1080" "1" "c.1080+1G>T" "r.spl" "p.?" "5i" "0000785012" "00000180" "99" "1080" "1" "1080" "1" "c.1080+1G>T" "r.spl" "p.?" "5i" "0000785013" "00000180" "95" "1080" "1" "1080" "1" "c.1080+1G>T" "r.spl" "p.?" "5i" "0000785014" "00000180" "99" "1080" "1" "1080" "1" "c.1080+1G>T" "r.spl" "p.?" "5i" "0000785015" "00000180" "99" "1080" "1" "1080" "1" "c.1080+1G>T" "r.spl" "p.?" "5i" "0000785016" "00000180" "99" "1080" "1" "1080" "1" "c.1080+1G>T" "r.spl" "p.?" "5i" "0000785017" "00000180" "99" "1080" "1" "1080" "1" "c.1080+1G>T" "r.spl" "p.?" "5i" "0000785018" "00000180" "99" "1080" "1" "1080" "1" "c.1080+1G>T" "r.spl" "p.?" "5i" "0000785019" "00000180" "99" "1080" "1" "1080" "1" "c.1080+1G>T" "r.spl" "p.?" "5i" "0000785020" "00000180" "99" "1080" "1" "1080" "1" "c.1080+1G>T" "r.spl" "p.?" "5i" "0000785021" "00000180" "99" "1080" "1" "1080" "1" "c.1080+1G>T" "r.spl" "p.?" "5i" "0000785022" "00000180" "99" "1080" "1" "1080" "1" "c.1080+1G>T" "r.spl" "p.?" "5i" "0000785023" "00000180" "99" "1080" "1" "1080" "1" "c.1080+1G>T" "r.spl" "p.?" "5i" "0000785024" "00000180" "99" "1080" "1" "1080" "1" "c.1080+1G>T" "r.spl" "p.?" "5i" "0000785025" "00000180" "99" "1080" "1" "1080" "1" "c.1080+1G>T" "r.spl" "p.?" "5i" "0000785026" "00000180" "99" "1080" "1" "1080" "1" "c.1080+1G>T" "r.spl" "p.?" "5i" "0000785027" "00000180" "99" "1080" "1" "1080" "1" "c.1080+1G>T" "r.spl" "p.?" "5i" "0000785028" "00000180" "99" "1080" "1" "1080" "1" "c.1080+1G>T" "r.spl" "p.?" "5i" "0000785029" "00000180" "99" "1080" "1" "1080" "1" "c.1080+1G>T" "r.spl" "p.?" "5i" "0000785030" "00000180" "99" "1080" "1" "1080" "1" "c.1080+1G>T" "r.spl" "p.?" "5i" "0000785031" "00000180" "99" "1080" "1" "1080" "1" "c.1080+1G>T" "r.spl" "p.?" "5i" "0000785032" "00000180" "99" "1080" "1" "1080" "1" "c.1080+1G>T" "r.spl" "p.?" "5i" "0000785033" "00000180" "99" "1080" "1" "1080" "1" "c.1080+1G>T" "r.spl" "p.?" "5i" "0000785034" "00000180" "99" "1080" "1" "1080" "1" "c.1080+1G>T" "r.spl" "p.?" "5i" "0000785035" "00000180" "99" "1080" "1" "1080" "1" "c.1080+1G>T" "r.spl" "p.?" "5i" "0000785036" "00000180" "99" "1080" "1" "1080" "1" "c.1080+1G>T" "r.spl" "p.?" "5i" "0000785037" "00000180" "99" "1080" "1" "1080" "1" "c.1080+1G>T" "r.spl" "p.?" "5i" "0000785038" "00000180" "99" "1080" "1" "1080" "1" "c.1080+1G>T" "r.spl" "p.?" "5i" "0000785039" "00000180" "99" "1080" "1" "1080" "1" "c.1080+1G>T" "r.spl" "p.?" "5i" "0000785040" "00000180" "99" "1080" "1" "1080" "1" "c.1080+1G>T" "r.spl" "p.?" "5i" "0000785041" "00000180" "97" "1087" "0" "1087" "0" "c.1087A>G" "r.(?)" "p.(Lys363Glu)" "6" "0000785042" "00000180" "99" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Arg368*)" "6" "0000785043" "00000180" "99" "1120" "0" "1120" "0" "c.1120G>T" "r.(?)" "p.(Glu374*)" "6" "0000785044" "00000180" "99" "1120" "0" "1120" "0" "c.1120G>T" "r.(?)" "p.(Glu374*)" "6" "0000785045" "00000180" "99" "1170" "0" "1170" "0" "c.1170G>A" "r.(?)" "p.?" "6" "0000785046" "00000180" "79" "1170" "0" "1170" "0" "c.1170G>C" "r.(?)" "p.?" "6" "0000785047" "00000180" "99" "1170" "2" "1170" "2" "c.1170+2T>A" "r.spl" "p.?" "6i" "0000785048" "00000180" "99" "1170" "5" "1170" "5" "c.1170+5G>C" "r.spl" "p.?" "6i" "0000785049" "00000180" "99" "1170" "5" "1170" "5" "c.1170+5G>C" "r.spl" "p.?" "6i" "0000785050" "00000180" "99" "1170" "5" "1170" "5" "c.1170+5G>C" "r.spl" "p.?" "6i" "0000785051" "00000180" "99" "1170" "5" "1170" "5" "c.1170+5G>C" "r.spl" "p.?" "6i" "0000785052" "00000180" "99" "1223" "2" "1223" "2" "c.1223+2T>G" "r.spl" "p.?" "7" "0000785053" "00000180" "99" "1244" "0" "1244" "0" "c.1244dup" "r.(?)" "p.(Arg416Thrfs*40)" "8" "0000785054" "00000180" "99" "1300" "0" "1300" "0" "c.1300G>T" "r.(?)" "p.(Glu434*)" "8" "0000785055" "00000180" "99" "1345" "0" "1345" "0" "c.1345G>A" "r.(?)" "p.(Gly449Ser)" "8" "0000785056" "00000180" "99" "1345" "0" "1345" "0" "c.1345G>C" "r.(?)" "p.(Gly449Arg)" "8" "0000785057" "00000180" "99" "1346" "-1" "1346" "-1" "c.1346-1G>C" "r.spl" "p.?" "8i" "0000785058" "00000180" "99" "1346" "-1" "1346" "-1" "c.1346-1G>C" "r.spl" "p.?" "8i" "0000785059" "00000180" "99" "1346" "-1" "1346" "-1" "c.1346-1G>C" "r.spl" "p.?" "8i" "0000785060" "00000180" "99" "1346" "-340" "1473" "36" "c.1346-340_1473+36del" "r.?" "p.?" "8i_9i" "0000785061" "00000180" "99" "1346" "-340" "1473" "36" "c.1346-340_1473+36del" "r.?" "p.?" "8i_9i" "0000785062" "00000180" "99" "1365" "0" "1366" "0" "c.1365_1366delinsC" "r.(?)" "p.(Glu455Aspfs*7)" "9" "0000785063" "00000180" "99" "1383" "0" "1389" "0" "c.1383_1389dup" "r.(?)" "p.(Lys464Glufs*19)" "9" "0000785064" "00000180" "99" "1383" "0" "1389" "0" "c.1383_1389dup" "r.(?)" "p.(Lys464Glufs*19)" "9" "0000785065" "00000180" "99" "1459" "0" "1459" "0" "c.1459C>T" "r.(?)" "p.(Gln487*)" "9" "0000785066" "00000180" "99" "1466" "0" "1466" "0" "c.1466T>C" "r.(?)" "p.(Leu489Pro)" "9" "0000785067" "00000180" "99" "1473" "1" "1473" "1" "c.1473+1G>T" "r.spl" "p.?" "9i" "0000785068" "00000180" "99" "1473" "3" "1473" "3" "c.1473+3A>C" "r.spl" "p.?" "9i" "0000785069" "00000180" "33" "1501" "0" "1501" "0" "c.1501C>T" "r.(?)" "p.(Arg501Trp)" "10" "0000785070" "00000180" "51" "1517" "0" "1517" "0" "c.1517C>G" "r.(?)" "p.(Pro506Arg)" "10" "0000785071" "00000180" "99" "1554" "0" "1555" "0" "c.1554_1555del" "r.(?)" "p.(Phe519Glnfs*63)" "10" "0000785072" "00000180" "99" "1636" "0" "1636" "0" "c.1636C>T" "r.(?)" "p.(Arg546Trp)" "11" "0000785073" "00000180" "79" "1636" "0" "1636" "0" "c.1636C>T" "r.(?)" "p.(Arg546Trp)" "11" "0000785074" "00000180" "99" "1646" "0" "1646" "0" "c.1646T>G" "r.(?)" "p.(Met549Arg)" "11" "0000785075" "00000180" "33" "1647" "0" "1647" "0" "c.1647G>A" "r.(?)" "p.(Met549Ile)" "11" "0000785076" "00000180" "99" "1656" "0" "1656" "0" "c.1656C>A" "r.(?)" "p.(Tyr552*)" "11" "0000785077" "00000180" "99" "1675" "0" "1675" "0" "c.1675dup" "r.(?)" "p.(Leu559Profs*24)" "11" "0000785078" "00000180" "51" "1716" "0" "1716" "0" "c.1716C>T" "r.(?)" "p.(=)" "11" "0000785079" "00000180" "99" "1720" "5" "1720" "5" "c.1720+5G>A" "r.spl" "p.?" "11i" "0000785080" "00000180" "11" "1720" "52" "1720" "52" "c.1720+52C>T" "r.(?)" "p.(=)" "11i" "0000785081" "00000180" "11" "1812" "0" "1812" "0" "c.1812C>T" "r.(?)" "p.(Pro604=)" "12" "0000785082" "00000180" "11" "1839" "-30" "1839" "-30" "c.1839-30G>A" "r.(?)" "p.(=)" "12i" "0000785083" "00000180" "99" "1914" "1" "1914" "1" "c.1914+1G>A" "r.spl" "p.?" "13i" "0000785084" "00000180" "99" "1838" "2" "1838" "2" "c.1838+2T>C" "r.spl" "p.?" "13i" "0000785085" "00000180" "99" "1881" "0" "1882" "0" "c.1881_1882del" "r.(?)" "p.(Phe627Leufs*4)" "13" "0000785086" "00000180" "99" "1881" "0" "1882" "0" "c.1881_1882del" "r.(?)" "p.(Phe627Leufs*4)" "13" "0000785087" "00000180" "99" "1914" "1" "1914" "1" "c.1914+1G>A" "r.spl" "p.?" "13i" "0000785088" "00000180" "99" "1914" "1" "1914" "1" "c.1914+1G>A" "r.spl" "p.?" "13i" "0000785089" "00000180" "99" "1914" "1" "1914" "1" "c.1914+1G>A" "r.spl" "p.?" "13i" "0000785090" "00000180" "11" "1915" "-20" "1915" "-20" "c.1915-20T>G" "r.(?)" "p.(=)" "13i" "0000785091" "00000180" "99" "1915" "-1" "1915" "-1" "c.1915-1G>A" "r.spl" "p.?" "13i" "0000785092" "00000180" "99" "1924" "0" "1934" "0" "c.1924_1934del" "r.(?)" "p.(Gln642Trpfs*11)" "14" "0000785093" "00000180" "51" "1930" "0" "1930" "0" "c.1930C>A" "r.(?)" "p.(Gln644Lys)" "14" "0000785094" "00000180" "15" "1948" "0" "1948" "0" "c.1948G>C" "r.(?)" "p.Gly650Arg" "14" "0000785095" "00000180" "99" "1996" "0" "1996" "0" "c.1996del" "r.(?)" "p.(Arg666Glyfs*29)" "14" "0000785096" "00000180" "99" "2014" "0" "2014" "0" "c.2014dup" "r.(?)" "p.(Ile672Asnfs*21)" "14" "0000785097" "00000180" "97" "2024" "0" "2024" "0" "c.2024G>T" "r.(?)" "p.(Trp675Leu)" "14" "0000785098" "00000180" "99" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14" "0000785099" "00000180" "99" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14" "0000785100" "00000180" "99" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14" "0000785101" "00000180" "11" "2055" "17" "2055" "17" "c.2055+17C>T" "r.(?)" "p.(=)" "14i" "0000785102" "00000180" "99" "2055" "18" "2055" "18" "c.2055+18G>A" "r.spl" "p.?" "14i" "0000785103" "00000180" "99" "2055" "18" "2055" "18" "c.2055+18G>A" "r.spl" "p.?" "14i" "0000785104" "00000180" "11" "2055" "74" "2055" "74" "c.2055+74T>A" "r.(?)" "p.(=)" "14i" "0000785105" "00000180" "99" "2056" "-1" "2056" "-1" "c.2056-1G>A" "r.spl" "p.?" "14i" "0000785106" "00000180" "99" "2143" "0" "2143" "0" "c.2143C>T" "r.(?)" "p.(Gln715*)" "15" "0000785107" "00000180" "99" "2148" "0" "2149" "0" "c.2148_2149delinsA" "r.(?)" "p.(Glu719Asnfs*29)" "15" "0000785108" "00000180" "99" "2155" "0" "2155" "0" "c.2155dup" "r.(?)" "p.(Glu719Glyfs*11)" "15" "0000785109" "00000180" "99" "2164" "0" "2164" "0" "c.2164C>T" "r.(?)" "p.(Gln722*)" "15" "0000785110" "00000180" "51" "2284" "0" "2284" "0" "c.*73C>T" "r.(?)" "p.(=)" "15" "0000799367" "00000180" "30" "2130" "0" "2130" "0" "c.2130C>T" "r.(?)" "p.(Pro710=)" "" "0000830822" "00000180" "90" "138" "0" "138" "0" "c.138C>A" "r.(?)" "p.(Tyr46Ter)" "" "0000833239" "00000180" "99" "2197" "0" "2197" "0" "c.2197A>G" "r.(?)" "p.(Lys733Glu)" "" "0000833240" "00000180" "99" "1170" "5" "1170" "5" "c.1170+5G>C" "r.spl?" "p.?" "" "0000833241" "00000180" "99" "1170" "5" "1170" "5" "c.1170+5G>C" "r.spl?" "p.?" "" "0000833242" "00000180" "90" "1934" "0" "1934" "0" "c.1934G>A" "r.(?)" "p.(Cys645Tyr)" "" "0000848740" "00000180" "30" "653" "0" "653" "0" "c.653A>C" "r.(?)" "p.(Glu218Ala)" "" "0000857498" "00000180" "90" "1080" "1" "1080" "1" "c.1080+1G>T" "r.spl?" "p.?" "" "0000883455" "00000180" "30" "1930" "0" "1930" "0" "c.1930C>A" "r.(?)" "p.(Gln644Lys)" "" "0000883456" "00000180" "30" "1838" "5" "1838" "5" "c.1838+5G>T" "r.spl?" "p.?" "" "0000883457" "00000180" "50" "1806" "0" "1806" "0" "c.1806A>C" "r.(?)" "p.(Lys602Asn)" "" "0000883458" "00000180" "10" "1626" "0" "1626" "0" "c.1626G>A" "r.(?)" "p.(Thr542=)" "" "0000883459" "00000180" "30" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Val415Ile)" "" "0000883460" "00000180" "30" "940" "19" "940" "19" "c.940+19C>G" "r.(=)" "p.(=)" "" "0000911074" "00000180" "10" "2055" "13" "2055" "13" "c.2055+13C>G" "r.(=)" "p.(=)" "" "0000911075" "00000180" "10" "1716" "0" "1716" "0" "c.1716C>T" "r.(?)" "p.(Ile572=)" "" "0000918449" "00000180" "90" "1914" "1" "1914" "1" "c.1914+1G>C" "r.spl" "p.?" "" "0000918853" "00000180" "90" "2141" "0" "2141" "0" "c.2141A>G" "r.(?)" "p.Lys714Arg" "" "0000918854" "00000180" "90" "2141" "0" "2141" "0" "c.2141A>G" "r.(?)" "p.Lys714Arg" "" "0000918855" "00000180" "90" "2141" "0" "2141" "0" "c.2141A>G" "r.(?)" "p.Lys714Arg" "" "0000918856" "00000180" "90" "2141" "0" "2141" "0" "c.2141A>G" "r.(?)" "p.Lys714Arg" "" "0000919566" "00000180" "90" "1051" "0" "1051" "0" "c.1051G>T" "r.(?)" "p.Glu351*" "" "0000922744" "00000180" "90" "2055" "86" "2055" "86" "c.2055+86A>G" "r.?" "p." "" "0000922754" "00000180" "90" "2055" "86" "2055" "86" "c.2055+86A>G" "r.?" "p." "" "0000922755" "00000180" "90" "2055" "86" "2055" "86" "c.2055+86A>G" "r.?" "p." "" "0000922756" "00000180" "90" "2055" "86" "2055" "86" "c.2055+86A>G" "r.?" "p." "" "0000922757" "00000180" "90" "2055" "86" "2055" "86" "c.2055+86A>G" "r.?" "p." "" "0000922758" "00000180" "90" "2055" "86" "2055" "86" "c.2055+86A>G" "r.?" "p." "" "0000922789" "00000180" "90" "2055" "86" "2055" "86" "c.2055+86A>G" "r.spl?" "p." "" "0000922790" "00000180" "90" "2055" "86" "2055" "86" "c.2055+86A>G" "r.(?)" "p." "" "0000922791" "00000180" "90" "2055" "86" "2055" "86" "c.2055+86A>G" "r.(?)" "p." "" "0000922792" "00000180" "90" "2055" "86" "2055" "86" "c.2055+86A>G" "r.(?)" "p." "" "0000922793" "00000180" "90" "2055" "86" "2055" "86" "c.2055+86A>G" "r.(?)" "p." "" "0000927473" "00000180" "90" "628" "0" "628" "0" "c.628C>T" "p.(?)" "p.(Arg210*)" "" "0000927474" "00000180" "90" "628" "0" "628" "0" "c.628C>T" "r.(?)" "p.(Arg210*)" "" "0000928177" "00000180" "30" "1308" "0" "1308" "0" "c.1308C>T" "r.(?)" "p.(=)" "" "0000936264" "00000180" "50" "1443" "0" "1443" "0" "c.1443C>T" "" "" "" "0000961048" "00000180" "30" "1720" "21" "1720" "21" "c.1720+21A>G" "r.(=)" "p.(=)" "" "0000961049" "00000180" "30" "466" "-117" "466" "-117" "c.466-117G>A" "r.(=)" "p.(=)" "" "0000973965" "00000180" "30" "1720" "27" "1720" "27" "c.1720+27C>T" "r.(=)" "p.(=)" "" "0000973966" "00000180" "30" "1026" "0" "1026" "0" "c.1026C>T" "r.(?)" "p.(Ala342=)" "" "0000973967" "00000180" "10" "978" "0" "978" "0" "c.978C>T" "r.(?)" "p.(=)" "" "0000973968" "00000180" "50" "971" "0" "971" "0" "c.971C>T" "r.(?)" "p.(Ala324Val)" "" "0000991293" "00000180" "90" "2154" "0" "2154" "0" "c.2154del" "r.(?)" "p.(Glu719Asnfs*29)" "" "0000991294" "00000180" "30" "2148" "0" "2148" "0" "c.2148T>A" "r.(?)" "p.(=)" "" "0000991295" "00000180" "30" "2056" "-191" "2056" "-191" "c.2056-191G>A" "r.(=)" "p.(=)" "" "0000991296" "00000180" "30" "1484" "0" "1484" "0" "c.1484C>T" "r.(?)" "p.(Thr495Ile)" "" "0001032053" "00000180" "50" "2006" "0" "2006" "0" "c.2006G>A" "r.(?)" "p.(Arg669His)" "" "0001032054" "00000180" "30" "1721" "-4" "1721" "-4" "c.1721-4C>T" "r.spl?" "p.?" "" "0001032055" "00000180" "50" "1224" "0" "1224" "0" "c.1224G>A" "r.(?)" "p.(=)" "" "0001032056" "00000180" "50" "1072" "0" "1072" "0" "c.1072C>A" "r.(?)" "p.(Pro358Thr)" "" "0001032057" "00000180" "30" "808" "7" "808" "8" "c.808+7_808+8delinsAT" "r.(=)" "p.(=)" "" "0001032058" "00000180" "30" "808" "7" "808" "7" "c.808+7G>A" "r.(=)" "p.(=)" "" "0001045683" "00000180" "90" "1338" "0" "1345" "5" "c.1338_1345+5del" "r.(?)" "p.(Leu445Valfs*13)" "" "0001045684" "00000180" "90" "1080" "1" "1080" "1" "c.1080+1G>T" "r.spl?" "p.?" "" "0001048302" "00000180" "50" "446" "0" "446" "0" "c.446T>G" "r.(?)" "p.(Leu149Arg)" "" "0001048303" "00000180" "50" "446" "0" "446" "0" "c.446T>G" "r.(?)" "p.(Leu149Arg)" "" "0001048304" "00000180" "50" "446" "0" "446" "0" "c.446T>G" "r.(?)" "p.(Leu149Arg)" "" "0001048305" "00000180" "50" "446" "0" "446" "0" "c.446T>G" "r.(?)" "p.(Leu149Arg)" "" "0001048306" "00000180" "50" "635" "0" "635" "0" "c.635G>A" "r.(?)" "p.(Gly212Glu)" "" "0001048307" "00000180" "50" "446" "0" "446" "0" "c.446T>G" "r.(?)" "p.(Leu149Arg)" "" "0001048308" "00000180" "50" "446" "0" "446" "0" "c.446T>G" "r.(?)" "p.(Leu149Arg)" "" "0001048309" "00000180" "50" "446" "0" "446" "0" "c.446T>G" "r.(?)" "p.(Leu149Arg)" "" "0001048310" "00000180" "50" "446" "0" "446" "0" "c.446T>G" "r.(?)" "p.(Leu149Arg)" "" "0001048311" "00000180" "50" "635" "0" "635" "0" "c.635G>A" "r.(?)" "p.(Gly212Glu)" "" "0001048312" "00000180" "50" "635" "0" "635" "0" "c.635G>A" "r.(?)" "p.(Gly212Glu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 186 "{{screeningid}}" "{{variantid}}" "0000000039" "0000000093" "0000081022" "0000130108" "0000291007" "0000647696" "0000291008" "0000647697" "0000305331" "0000669019" "0000328659" "0000712618" "0000328660" "0000712619" "0000328660" "0000712630" "0000332718" "0000730000" "0000332719" "0000730001" "0000332720" "0000730002" "0000332721" "0000730003" "0000332722" "0000730004" "0000332723" "0000730005" "0000374239" "0000784975" "0000374240" "0000784976" "0000374241" "0000784977" "0000374242" "0000784978" "0000374242" "0000785024" "0000374243" "0000784979" "0000374243" "0000785109" "0000374244" "0000784980" "0000374245" "0000784981" "0000374246" "0000784982" "0000374247" "0000784983" "0000374248" "0000784984" "0000374248" "0000785087" "0000374249" "0000784985" "0000374250" "0000784986" "0000374251" "0000784987" "0000374252" "0000784988" "0000374253" "0000784989" "0000374253" "0000785108" "0000374254" "0000784990" "0000374255" "0000784991" "0000374255" "0000785025" "0000374256" "0000784992" "0000374257" "0000784993" "0000374257" "0000785005" "0000374258" "0000784994" "0000374258" "0000785010" "0000374259" "0000784995" "0000374259" "0000785026" "0000374260" "0000784996" "0000374260" "0000785014" "0000374261" "0000784997" "0000374262" "0000784998" "0000374263" "0000784999" "0000374264" "0000785000" "0000374264" "0000785059" "0000374265" "0000785001" "0000374266" "0000785002" "0000374267" "0000785003" "0000374268" "0000785004" "0000374268" "0000785067" "0000374269" "0000785006" "0000374270" "0000785007" "0000374271" "0000785008" "0000374272" "0000785009" "0000374273" "0000785011" "0000374274" "0000785012" "0000374275" "0000785013" "0000374276" "0000785015" "0000374277" "0000785016" "0000374278" "0000785017" "0000374279" "0000785018" "0000374280" "0000785019" "0000374281" "0000785020" "0000374282" "0000785021" "0000374283" "0000785022" "0000374284" "0000785023" "0000374285" "0000785027" "0000374285" "0000785051" "0000374286" "0000785028" "0000374286" "0000785071" "0000374287" "0000785029" "0000374287" "0000785079" "0000374288" "0000785030" "0000374288" "0000785086" "0000374289" "0000785031" "0000374289" "0000785095" "0000374290" "0000785032" "0000374290" "0000785107" "0000374291" "0000785033" "0000374292" "0000785034" "0000374293" "0000785035" "0000374294" "0000785036" "0000374295" "0000785037" "0000374296" "0000785038" "0000374297" "0000785039" "0000374297" "0000785094" "0000374298" "0000785040" "0000374298" "0000785074" "0000374299" "0000785041" "0000374300" "0000785042" "0000374300" "0000785102" "0000374301" "0000785043" "0000374302" "0000785044" "0000374302" "0000785054" "0000374303" "0000785045" "0000374303" "0000785065" "0000374304" "0000785046" "0000374305" "0000785047" "0000374306" "0000785048" "0000374307" "0000785049" "0000374308" "0000785050" "0000374309" "0000785052" "0000374310" "0000785053" "0000374310" "0000785088" "0000374311" "0000785055" "0000374312" "0000785056" "0000374313" "0000785057" "0000374314" "0000785058" "0000374314" "0000785106" "0000374315" "0000785060" "0000374316" "0000785061" "0000374317" "0000785062" "0000374318" "0000785063" "0000374319" "0000785064" "0000374319" "0000785092" "0000374320" "0000785066" "0000374320" "0000785091" "0000374321" "0000785068" "0000374321" "0000785077" "0000374322" "0000785069" "0000374323" "0000785070" "0000374324" "0000785072" "0000374325" "0000785073" "0000374326" "0000785075" "0000374327" "0000785076" "0000374328" "0000785078" "0000374329" "0000785080" "0000374329" "0000785081" "0000374330" "0000785082" "0000374331" "0000785083" "0000374332" "0000785084" "0000374333" "0000785085" "0000374334" "0000785089" "0000374335" "0000785090" "0000374336" "0000785093" "0000374337" "0000785096" "0000374338" "0000785097" "0000374339" "0000785098" "0000374340" "0000785099" "0000374341" "0000785100" "0000374342" "0000785101" "0000374343" "0000785103" "0000374344" "0000785104" "0000374345" "0000785105" "0000374346" "0000785110" "0000398607" "0000830822" "0000400391" "0000833239" "0000400391" "0000833240" "0000400392" "0000833241" "0000400392" "0000833242" "0000432834" "0000918449" "0000433218" "0000918853" "0000433219" "0000918854" "0000433220" "0000918855" "0000433221" "0000918856" "0000433919" "0000919566" "0000436372" "0000922744" "0000436378" "0000922754" "0000436379" "0000922755" "0000436380" "0000922756" "0000436381" "0000922757" "0000436382" "0000922758" "0000436407" "0000922789" "0000436408" "0000922790" "0000436409" "0000922791" "0000436410" "0000922792" "0000436411" "0000922793" "0000436486" "0000927473" "0000436488" "0000927474" "0000440106" "0000936264" "0000468468" "0001048302" "0000468469" "0001048303" "0000468470" "0001048304" "0000468471" "0001048305" "0000468472" "0001048306" "0000468473" "0001048307" "0000468474" "0001048308" "0000468475" "0001048309" "0000468476" "0001048310" "0000468477" "0001048311" "0000468478" "0001048312"