### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = COL1A2) # 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}}" "COL1A2" "collagen type I alpha 2 chain" "7" "q21.3" "unknown" "NG_007405.1" "UD_132118813577" "" "https://www.LOVD.nl/COL1A2" "Osteogenesis Imperfecta & Ehlers-Danlos syndrome variant databases \r\nOsteogenesis Imperfecta Federation Europe (OIFE) " "1" "2198" "1278" "120160" "1" "1" "1" "1" "Establishment 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)
\r\nThis database is supported by \r\nThe Ehlers-Danlos Society" "" "g" "https://databases.lovd.nl/shared/refseq/COL1A2_codingDNA.html" "1" "" "
Osteogenesis Imperfecta Variant Database\r\n
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" "-1" "" "-1" "00001" "2008-02-19 00:00:00" "00085" "2024-02-13 14:16:45" "00000" "2025-11-01 13:22:20" ## 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}}" "00005456" "COL1A2" "collagen, type I, alpha 2" "001" "NM_000089.3" "" "NP_000080.2" "" "" "" "-471" "4940" "4101" "94023873" "94060544" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 18 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00152" "CHD" "heart disease, congenital (CHD)" "" "" "" "" "" "00008" "2013-06-19 09:27:11" "00006" "2015-01-23 22:14:45" "00169" "EDS" "Ehlers-Danlos syndrome (EDS)" "" "" "" "" "" "00006" "2013-08-01 11:03:44" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00239" "MFS" "Marfan syndrome (MFS)" "AD" "154700" "" "autosomal dominant" "" "00006" "2013-10-09 21:34:54" "00006" "2021-12-10 21:51:32" "00443" "DGI1" "dentinogenesis imperfecta, Shields type I (DGI-1)" "AD" "125490" "" "" "" "00006" "2014-07-09 12:56:14" "00006" "2021-12-10 21:51:32" "00634" "EDSARTH2" "Ehlers-Danlos syndrome, arthrochalasia, type 2" "AD" "617821" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-06-05 20:06:46" "00635" "OI4" "osteogenesis imperfecta, type IV (OI4)" "AD" "166220" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-05-16 21:54:24" "00636" "OI3" "osteogenesis imperfecta, type III (OI3)" "AD" "259420" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-05-16 21:55:28" "00637" "OI2" "osteogenesis imperfecta, type II (OI2)" "AD" "166210" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-05-16 21:56:03" "00638" "EDSCV" "Ehlers-Danlos syndrome, cardiac valvular form" "AR" "225320" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01481" "OI1" "osteogenesis imperfecta, type I (OI1)" "AD" "166200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-05-16 21:56:46" "01484" "-" "osteoporosis" "AD" "166710" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" "05118" "-" "aneurysms, arterial" "" "" "" "" "" "00006" "2016-01-13 01:22:29" "" "" "05296" "OI" "osteogenesis imperfecta" "" "" "" "" "" "00006" "2017-06-26 22:59:16" "00006" "2025-09-23 21:54:31" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "05784" "EDSCL1" "Ehlers-Danlos, classic syndrome, type 1 (EDSCL1 EDS1)" "AD" "130000" "" "" "" "00006" "2020-07-09 19:45:04" "00006" "2021-12-10 21:51:32" "06987" "CPHD" "hormone deficiency, pituitary, combined" "" "" "" "" "" "00006" "2022-12-22 15:47:43" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{geneid}}" "{{diseaseid}}" "COL1A2" "00169" "COL1A2" "00634" "COL1A2" "00635" "COL1A2" "00636" "COL1A2" "00637" "COL1A2" "00638" "COL1A2" "01484" "COL1A2" "05296" ## Individuals ## Do not remove or alter this header ## ## Count = 1507 "{{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}}" "00080921" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00104012" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-512A" "00105906" "" "" "" "12" "" "02120" "{PMID:Lindert 2016:27380894}, {DOI:Lindert 2016:10.1038/ncomms11920}" "5-generation family, 12 affecteds, unaffected heterozygous carrier females, PatV7" "M" "no" "Thailand" "" "0" "" "" "AsianO" "27380894-Fam1PatV7" "00131877" "" "" "" "1" "" "01741" "" "" "" "" "Germany" "" "0" "" "" "" "" "00132061" "" "" "" "1" "" "01396" "" "" "M" "yes" "Brazil" "" "0" "" "" "" "1" "00132062" "" "" "" "1" "" "01396" "" "" "F" "no" "Brazil" "" "0" "" "" "" "2" "00132063" "" "" "" "1" "" "01396" "{PMID:Silveira 2021:34529350}, {DOI:Silveira 2021:10.1002/ajmg.c.31937}" "" "F" "?" "Brazil" "" "0" "" "" "" "Pat33" "00132773" "" "" "" "1" "" "01741" "" "" "" "" "Germany" "" "0" "" "" "" "" "00265729" "" "" "" "1" "" "02544" "" "" "F" "?" "Switzerland" "19y" "0" "" "" "" "Family3-P7" "00265732" "" "" "" "2" "" "02544" "" "family, 2 affected" "M" "" "" "" "0" "" "" "" "Family6-P10" "00265733" "" "" "00265732" "1" "" "02544" "" "" "M" "" "" "30y" "0" "" "" "" "Family6-P11" "00265738" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "Family10-P16" "00265739" "" "" "" "1" "" "02544" "" "" "M" "" "Italy" "" "0" "" "" "" "Family1-P1" "00265740" "" "" "" "1" "" "02544" "" "" "F" "" "Switzerland" "" "0" "" "" "" "Family2-P6" "00265741" "" "" "" "1" "" "02544" "" "" "" "" "Canada" "" "0" "" "" "" "Family11-P17" "00294516" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294517" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294518" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00299938" "" "" "" "2" "" "03235" "{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "" "00299939" "" "" "" "1" "" "03235" "{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00299961" "" "" "" "1" "" "03235" "{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00299962" "" "" "" "1" "" "03235" "{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00299963" "" "" "" "1" "" "03235" "{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00299964" "" "" "" "1" "" "03235" "{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00299965" "" "" "" "1" "" "03235" "{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00299966" "" "" "" "1" "" "03235" "{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00299967" "" "" "" "1" "" "03235" "{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "" "00299968" "" "" "" "1" "" "03235" "{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "" "00299969" "" "" "" "1" "" "03235" "{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00299970" "" "" "" "1" "" "03235" "{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "" "00299971" "" "" "" "1" "" "03235" "{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00299972" "" "" "" "1" "" "03235" "{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "" "00299973" "" "" "" "1" "" "03235" "{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "" "00299974" "" "" "" "1" "" "03235" "{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00299975" "" "" "" "1" "" "03235" "{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "" "00299976" "" "" "" "1" "" "03235" "{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "" "00299977" "" "" "" "1" "" "03235" "{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "" "00299978" "" "" "" "1" "" "03235" "{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "" "00299979" "" "" "" "1" "" "03235" "{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00299980" "" "" "" "1" "" "03235" "{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "" "00300364" "" "" "" "1" "" "00006" "{PMID:Liu 2017:28725987}" "analysis 101 unrelated OI families" "" "" "China" "" "0" "" "" "" "Fam18" "00300365" "" "" "" "1" "" "00006" "{PMID:Liu 2017:28725987}" "analysis 101 unrelated OI families" "" "" "China" "" "0" "" "" "" "Fam19" "00300366" "" "" "" "1" "" "00006" "{PMID:Liu 2017:28725987}" "analysis 101 unrelated OI families" "" "" "China" "" "0" "" "" "" "Fam20" "00300367" "" "" "" "1" "" "00006" "{PMID:Liu 2017:28725987}" "analysis 101 unrelated OI families" "" "" "China" "" "0" "" "" "" "Fam21" "00300368" "" "" "" "1" "" "00006" "{PMID:Liu 2017:28725987}" "analysis 101 unrelated OI families" "" "" "China" "" "0" "" "" "" "Fam22" "00300369" "" "" "" "1" "" "00006" "{PMID:Liu 2017:28725987}" "analysis 101 unrelated OI families" "" "" "China" "" "0" "" "" "" "Fam23" "00300370" "" "" "" "1" "" "00006" "{PMID:Liu 2017:28725987}" "analysis 101 unrelated OI families" "" "" "China" "" "0" "" "" "" "Fam24" "00300371" "" "" "" "1" "" "00006" "{PMID:Liu 2017:28725987}" "analysis 101 unrelated OI families" "" "" "China" "" "0" "" "" "" "Fam25" "00300372" "" "" "" "1" "" "00006" "{PMID:Liu 2017:28725987}" "analysis 101 unrelated OI families" "" "" "China" "" "0" "" "" "" "Fam26" "00300373" "" "" "" "1" "" "00006" "{PMID:Liu 2017:28725987}" "analysis 101 unrelated OI families" "" "" "China" "" "0" "" "" "" "Fam27" "00300405" "" "" "" "1" "" "00006" "{PMID:Liu 2017:28725987}" "analysis 101 unrelated OI families" "F" "" "China" "" "0" "" "" "" "Fam58" "00300406" "" "" "" "1" "" "00006" "{PMID:Liu 2017:28725987}" "analysis 101 unrelated OI families" "M" "" "China" "" "0" "" "" "" "Fam59" "00300407" "" "" "" "1" "" "00006" "{PMID:Liu 2017:28725987}" "analysis 101 unrelated OI families" "M" "" "China" "" "0" "" "" "" "Fam60" "00300408" "" "" "" "1" "" "00006" "{PMID:Liu 2017:28725987}" "analysis 101 unrelated OI families" "F" "" "China" "" "0" "" "" "" "Fam61" "00300409" "" "" "" "1" "" "00006" "{PMID:Liu 2017:28725987}" "analysis 101 unrelated OI families" "M" "" "China" "" "0" "" "" "" "Fam62" "00300410" "" "" "" "1" "" "00006" "{PMID:Liu 2017:28725987}" "analysis 101 unrelated OI families" "F" "" "China" "" "0" "" "" "" "Fam63" "00300411" "" "" "" "1" "" "00006" "{PMID:Liu 2017:28725987}" "analysis 101 unrelated OI families" "F" "" "China" "" "0" "" "" "" "Fam64" "00300412" "" "" "" "1" "" "00006" "{PMID:Liu 2017:28725987}" "analysis 101 unrelated OI families" "M" "" "China" "" "0" "" "" "" "Fam65" "00300413" "" "" "" "1" "" "00006" "{PMID:Liu 2017:28725987}" "analysis 101 unrelated OI families" "F" "" "China" "" "0" "" "" "" "Fam66" "00300414" "" "" "" "1" "" "00006" "{PMID:Liu 2017:28725987}" "analysis 101 unrelated OI families" "M" "" "China" "" "0" "" "" "" "Fam67" "00300415" "" "" "" "1" "" "00006" "{PMID:Liu 2017:28725987}" "analysis 101 unrelated OI families" "F" "" "China" "" "0" "" "" "" "Fam68" "00300416" "" "" "" "1" "" "00006" "{PMID:Liu 2017:28725987}" "analysis 101 unrelated OI families" "M" "" "China" "" "0" "" "" "" "Fam69" "00300417" "" "" "" "1" "" "00006" "{PMID:Liu 2017:28725987}" "analysis 101 unrelated OI families" "M" "" "China" "" "0" "" "" "" "Fam70" "00300418" "" "" "" "1" "" "00006" "{PMID:Liu 2017:28725987}" "analysis 101 unrelated OI families" "M" "" "China" "" "0" "" "" "" "Fam71" "00300419" "" "" "" "1" "" "00006" "{PMID:Liu 2017:28725987}" "analysis 101 unrelated OI families" "F" "" "China" "" "0" "" "" "" "Fam72" "00300420" "" "" "" "1" "" "00006" "{PMID:Liu 2017:28725987}" "analysis 101 unrelated OI families" "M" "" "China" "" "0" "" "" "" "Fam73" "00300421" "" "" "" "1" "" "00006" "{PMID:Liu 2017:28725987}" "analysis 101 unrelated OI families" "F" "" "China" "" "0" "" "" "" "Fam74" "00300422" "" "" "" "1" "" "00006" "{PMID:Liu 2017:28725987}" "analysis 101 unrelated OI families" "F" "" "China" "" "0" "" "" "" "Fam75" "00300423" "" "" "" "1" "" "00006" "{PMID:Liu 2017:28725987}" "analysis 101 unrelated OI families" "M" "" "China" "" "0" "" "" "" "Fam76" "00306112" "" "" "" "1" "" "03729" "" "" "M" "no" "India" "" "0" "" "" "" "OI-pat1" "00320168" "" "" "" "1" "" "01807" "" "" "?" "" "" "" "0" "" "" "" "" "00320567" "" "" "" "1" "" "03897" "{PMID:Zhytnik 2019:31447884}" "" "" "" "Ukraine" "" "0" "" "" "" "UA08" "00320574" "" "" "" "1" "" "03897" "{PMID:Zhytnik 2019:31447884}" "" "" "" "Ukraine" "" "0" "" "" "" "UA85" "00322824" "" "" "" "1" "" "03855" "" "" "" "" "" "" "0" "" "" "" "" "00322825" "" "" "" "1" "" "00085" "{PMID:Zhang et al., 2017:27748872}" "" "" "" "" "" "0" "" "" "Han Chinese" "" "00322826" "" "" "" "1" "" "03704" "{PMID:Schwarze et al., 2004:15077201}" "Both mutations result in null alleles." "" "" "" "" "0" "" "" "" "" "00322827" "" "" "" "1" "" "00085" "{PMID:Zhuang et al., 1996:8829649} {PMID:Yoneyama et al., 2004:14739420} {PMID:Chan et al., 2008:18272325} {PMID:Bodian et al., 2009:18996919}" "" "" "" "" "" "0" "" "" "" "" "00322828" "" "" "" "1" "" "00085" "{PMID:Zhang et al., 2017:27748872}" "" "" "" "" "" "0" "" "" "Han Chinese" "" "00322829" "" "" "" "1" "" "03855" "" "Complete sequencing of COL1A1 and COL1A2, no other changes detected" "" "" "" "" "0" "" "" "" "" "00322830" "" "" "" "1" "" "03883" "Morlino et al., submitted 2019" "Father of affected individual AN_005716." "" "" "" "" "0" "" "" "" "" "00322831" "" "" "" "1" "" "03869" "" "" "" "" "" "" "0" "" "" "Brazilian" "" "00322832" "" "" "" "1" "" "00085" "{PMID:Giunta and Steinmann, 2008:20960610}" "The deletion causes skipping of exon 6. The patient\'s daughter also harbours the same mutation." "" "" "" "" "0" "" "" "" "" "00322833" "" "" "" "1" "" "03704" "{PMID:Byers et al., 1997:9295084}" "The mutation in this patient in terms of genomic coordinates is g.11990_12072del" "" "" "" "" "0" "" "" "" "" "00322834" "" "" "" "1" "" "03704" "{PMID:Byers et al., 1997:9295084}" "" "" "" "" "" "0" "" "" "" "" "00322835" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Marini, Cabral and Pals, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00322836" "" "" "" "1" "" "00085" "{PMID:Klaassens et al., 2011:21801164}" "The mutation results in use of a cryptic splice site 15 bases into exon 6, resulting in the loss of the first 5 amino acids." "" "" "" "" "0" "" "" "white" "" "00322837" "" "" "" "1" "" "03704" "{PMID:Byers et al., 1997:9295084}" "" "" "" "" "" "0" "" "" "" "" "00322838" "" "" "" "1" "" "00085" "{PMID:Chiodo et al., 1992:1556139}" "The mutation acivates a cryptic splice acceptor in exon 6 resulting in the loss of the first 5 amino acids encoded by that exon." "" "" "" "" "0" "" "" "" "" "00322839" "" "" "" "1" "" "00085" "{PMID:Strobel et al., 1992:1603040} {PMID:Yoneyama et al., 2004:14739420} {PMID:Chan et al., 2008:18272325} {PMID:Bodian et al., 2009:18996919}" "" "" "" "" "" "0" "" "" "" "" "00322840" "" "" "" "1" "" "03704" "{PMID:Byers et al., 1997:9295084}" "Skips exon 6." "" "" "" "" "0" "" "" "" "" "00322841" "" "" "" "1" "" "00085" "{PMID:Weil et al., 1989b:2777808}" "Skips exon 6. The mutation was demonstrated to be temperature-sensitive in this patient." "" "" "" "" "0" "" "" "" "" "00322842" "" "" "" "1" "" "00085" "{PMID:Weil et al., 1990:2394758}" "Skips exon 6." "" "" "" "" "0" "" "" "" "" "00322843" "" "" "" "1" "" "00085" "{PMID:Vasan et al., 1991:1990839}" "Skips exon 6.The technique used was S1 nuclease." "" "" "" "" "0" "" "" "" "" "00322844" "" "" "" "1" "" "00085" "{PMID:Nicholls et al., 1991:1712342}" "Skips exon 6." "" "" "" "" "0" "" "" "" "" "00322845" "" "" "" "1" "" "03704" "{PMID:Watson et al., 1992:1577745}" "Skips exon 6. The clinical details of the proband and members of her family were previously described by {PMID3621666:Viljoen et al., 1987}." "" "" "" "" "0" "" "" "" "" "00322846" "" "" "" "1" "" "00085" "{PMID:Lehmann et al., 1994:7864655}" "Skips exon 6." "" "" "" "" "0" "" "" "" "" "00322847" "" "" "" "1" "" "00085" "{PMID:Giunta et al., 1999:10073586}" "Skips exon 6." "" "" "" "" "0" "" "" "" "" "00322848" "" "" "" "1" "" "00085" "{PMID:Klaassens et al., 2011:21801164}" "" "" "" "" "" "0" "" "" "white" "" "00322849" "" "" "" "1" "" "03704" "{PMID:Byers et al., 1997:9295084}" "Skips exon 6." "" "" "" "" "0" "" "" "" "" "00322850" "" "" "" "1" "" "03704" "{PMID:Byers et al., 1997:9295084}" "Skips exon 6." "" "" "" "" "0" "" "" "" "" "00322851" "" "" "" "1" "" "00085" "{PMID:Nicholls et al., 2000:11073542}" "Skips exon 6. The proband\'s mother is somatically mosaic for the same mutation." "" "" "" "" "0" "" "" "" "" "00322852" "" "" "" "1" "" "00085" "{PMID:Klaassens et al., 2011:21801164}" "The patient\'s father has mild symptoms of EDS but somatic mosaicism was not demonstrated by mutation analysis of blood, fibroblast and saliva DNA." "" "" "" "" "0" "" "" "white" "" "00322853" "" "" "" "1" "" "00085" "{PMID:Hatamochi et al., 2014:24440294}" "Analysis of mRNA demonstrates skipping of exon 6." "" "" "" "" "0" "" "" "Japanese" "" "00322854" "" "" "" "1" "" "00085" "{PMID:Weil et al., 1988:2454224}" "Skips exon 6. This patient was previously described by {PMID3680255:Wirtz et al., 1987}" "" "" "" "" "0" "" "" "" "" "00322855" "" "" "" "1" "" "00085" "{PMID:Ho et al., 1994:8081389}" "" "" "" "" "" "0" "" "" "" "" "00322856" "" "" "" "1" "" "00085" "{PMID:Giunta et al., 1999:10073586}" "" "" "" "" "" "0" "" "" "" "" "00322857" "" "" "" "1" "" "00085" "{PMID:Melis et al., 2012:23158907}" "" "" "" "" "" "0" "" "" "" "" "00322858" "" "" "" "1" "" "00085" "{PMID:Klaassens et al., 2011:21801164}" "The mother may have some connective tissue disorder, but the patient\'s mutation is not found in lymphocyte DNA. The mother has a Beighton hypermobility score of 4/9." "" "" "" "" "0" "" "" "white" "" "00322859" "" "" "" "1" "" "00085" "{PMID:Mundlos et al., 1996:8702873}" "This mutation deletes exons 7 to 11 and in terms of genomic coordinates is g.13847_16229del" "" "" "" "" "0" "" "" "" "" "00322860" "" "" "" "1" "" "03878" "" "The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "white" "" "00322861" "" "" "" "1" "" "00085" "{PMID:Malfait et al., 2006:16816023}" "The patient is descibed as having a rare form of Ehlers-Danlos syndrome with hypermobility and a propensity to cardiac valvular problems." "" "" "" "" "0" "" "" "" "" "00322862" "" "" "" "1" "" "03879" "{PMID:Lindahl et al., 2015:25944380}" "The patient harbours the c.577G>A and c.304C>T variants in cis." "" "" "" "" "0" "" "" "Swedish" "" "00322863" "" "" "" "1" "" "03879" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "" "" "0" "" "" "Swedish" "" "00322864" "" "" "" "1" "" "03883" "Morlino et al., submitted 2019" "Son of affected individual AN_005714." "" "" "" "" "0" "" "" "Italian" "" "00322865" "" "" "" "1" "" "01819" "{PMID:Malfait et al., 2013:23692737}" "" "" "" "" "" "0" "" "" "" "" "00322866" "" "" "" "1" "" "01819" "{PMID:Malfait et al., 2013:23692737}" "" "" "" "" "" "0" "" "" "" "" "00322867" "" "" "" "1" "" "03879" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "" "" "0" "" "" "Swedish" "" "00322869" "" "" "" "1" "" "00085" "{PMID:Lin et al., 2015:26627451}" "" "" "" "" "" "0" "" "" "Taiwanese" "" "00322870" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00322871" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00322872" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00322873" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00322874" "" "" "" "1" "" "03855" "" "" "" "" "" "" "0" "" "" "" "" "00322875" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00322876" "" "" "" "1" "" "00085" "{PMID:Mansfield and Rahme, 2015:26551090}" "The patient had an aneurysm of the recurrent artery of Heubner. Her brother and daughter also harbour the same variant, details of which are not presented in the paper but were provided by the authors." "" "" "" "" "0" "" "" "" "" "00322877" "" "" "" "1" "" "03853" "" "" "" "" "" "" "0" "" "" "white" "" "00322878" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00322879" "" "" "" "1" "" "00085" "{PMID:Balasubramanian et al., 2015:26471105}" "ArrayCGH identified an 8.8 Mb deletion of chromosome 11q24.2q25, involving nucleotide basepairs 126,026,082–134,868,420 (GRCh37 genome assembly) in addition to the COL1A2 variant.The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "Pakistani" "" "00322880" "" "" "" "1" "" "03891" "" "" "" "" "" "" "0" "" "" "" "" "00322881" "" "" "" "1" "" "00085" "Li, 2009 ASHG Meeting 2009 Program Number: 2630" "The proband is reported as having blue sclerae, joint laxity and dental crowding, but no history of fracture. He was also noted to osteosclerotic changes on X rays." "" "" "" "" "0" "" "" "white" "" "00322882" "" "" "" "1" "" "03853" "" "" "" "" "" "" "0" "" "" "white" "" "00322883" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00322884" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00322885" "" "" "" "1" "" "03881" "" "" "" "" "" "" "0" "" "" "" "" "00322886" "" "" "" "1" "" "03855" "" "" "" "" "" "" "0" "" "" "" "" "00322887" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00322888" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00322889" "" "" "" "1" "" "03891" "" "" "" "" "" "" "0" "" "" "Unknown" "" "00322890" "" "" "" "1" "" "00085" "{PMID:Nicholls et al., 1992:1551666}" "Skips exon 9. The mutation in the affected family causes a mild atypical OI and extreme joint hypermobility." "" "" "" "" "0" "" "" "" "" "00322891" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00322892" "" "" "" "1" "" "01819" "{PMID:Malfait et al., 2013:23692737}" "" "" "" "" "" "0" "" "" "" "" "00322893" "" "" "" "1" "" "00085" "{PMID:Feshchenko et al., 1998:10694924}" "Skips exon 9." "" "" "" "" "0" "" "" "" "" "00322894" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00322895" "" "" "" "1" "" "00085" "{PMID:Mundlos et al., 1996:8702873}" "This mutation deletes exons 10 to 17 and in terms of genomic coordinates is g.15391_19867del" "" "" "" "" "0" "" "" "" "" "00322896" "" "" "" "1" "" "01819" "" "" "" "" "" "" "0" "" "" "" "" "00322897" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00322898" "" "" "" "1" "" "00085" "{PMID:Balasubramanian et al., 2015:25436829}" "" "" "" "" "" "0" "" "" "" "" "00322899" "" "" "" "1" "" "03896" "" "" "" "" "Portugal" "" "0" "" "" "Portugal" "" "00322900" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00322901" "" "" "" "1" "" "01819" "" "" "" "" "" "" "0" "" "" "" "" "00322902" "" "" "" "1" "" "03885" "{PMID:Bardai et al.,2016:27509835}" "The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "" "" "00322903" "" "" "" "1" "" "00085" "{PMID:Kuivaniemi et al., 1988:3403536}" "Skips exon 11.The technique used was S1 nuclease." "" "" "" "" "0" "" "" "" "" "00322904" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00322905" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00322906" "" "" "" "1" "" "00475" "" "" "" "" "" "" "0" "" "" "white" "" "00322907" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00322908" "" "" "" "1" "" "03704" "{PMID:Schwarze et al., 2004:15077201}" "Both mutations result in recessive null alleles." "" "" "" "" "0" "" "" "" "" "00322909" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00322910" "" "" "" "1" "" "00085" "{PMID:Galicka et al., 2003:12833172}" "This variant was present in twins." "" "" "" "" "0" "" "" "" "" "00322911" "" "" "" "1" "" "03865" "" "" "" "" "" "" "0" "" "" "" "" "00322912" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00322913" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00322914" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00322915" "" "" "" "1" "" "00085" "{PMID:Usta et al., 2017:28904723}" "" "" "" "" "" "0" "" "" "" "" "00322916" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00322917" "" "" "" "1" "" "00475" "" "" "" "" "" "" "0" "" "" "white" "" "00322918" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00322919" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00322920" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00322921" "" "" "" "1" "" "01819" "" "" "" "" "" "" "0" "" "" "" "" "00322922" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Nuytinck and De Paepe, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00322923" "" "" "" "1" "" "00085" "{PMID:Venturi et al., 2006:16879195}" "This patient\'s mutation is incorrectly described in Table 2 of Venturi et al., 2006.Erratum in: Clin Genet. 2006 Nov;70(5):455." "" "" "" "" "0" "" "" "" "" "00322924" "" "" "" "1" "" "03855" "" "" "" "" "" "" "0" "" "" "" "" "00322925" "" "" "" "1" "" "03855" "" "" "" "" "" "" "0" "" "" "" "" "00322926" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00322927" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00322928" "" "" "" "1" "" "03861" "" "" "" "" "" "" "0" "" "" "" "" "00322929" "" "" "" "1" "" "03870" "{PMID:Gentile et al., 2013:22753364}" "" "" "" "" "" "0" "" "" "" "" "00322930" "" "" "" "1" "" "03861" "" "" "" "" "" "" "0" "" "" "" "" "00322931" "" "" "" "1" "" "03879" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "" "" "0" "" "" "Swedish" "" "00322932" "" "" "" "1" "" "03879" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "" "" "0" "" "" "Swedish" "" "00322933" "" "" "" "1" "" "03879" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "" "" "0" "" "" "Swedish" "" "00322934" "" "" "" "1" "" "03879" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "" "" "0" "" "" "Swedish" "" "00322935" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00322936" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00322937" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00322938" "" "" "" "1" "" "00085" "{PMID:Rolvien et al., 2018:29946973}" "The DNA-level variant data and OI phenotype were provided by Dr Tim Rolvien." "" "" "" "" "0" "" "" "" "" "00322939" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00322940" "" "" "" "1" "" "00085" "{PMID:Mrosk et al., 2018:29499418}" "The patient was heterozygous, while the mutation was absent in the patient\'s parents." "" "" "" "" "0" "" "" "Indian" "" "00322941" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Nuytinck and De Paepe, personal communication)" "There is probably an error in the reporting of this variant. The base substitution c.578G>A yields the amino acid substitution p.(Gly193Asp) rather than p.(Gly193Ser) which is reported. The substitution of glycine by asparatic acid might not be expected to yield the mild OI type I phenotype which is also reported. Perhaps this variant should have been reported as c.577G>A which does yield p.(Gly193Ser)." "" "" "" "" "0" "" "" "" "" "00322942" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00322943" "" "" "" "1" "" "03872" "" "" "" "" "" "" "0" "" "" "Han Chinese" "" "00322944" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00322945" "" "" "" "1" "" "03872" "" "" "" "" "" "" "0" "" "" "Han Chinese" "" "00322946" "" "" "" "1" "" "00085" "{PMID:Zhang et al., 2011:21667357}" "" "" "" "" "" "0" "" "" "Han Chinese" "" "00322947" "" "" "" "1" "" "03870" "{PMID:Gentile et al., 2013:22753364}" "" "" "" "" "" "0" "" "" "" "" "00322948" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00322949" "" "" "" "1" "" "01819" "{PMID:Malfait et al., 2013:23692737}" "" "" "" "" "" "0" "" "" "" "" "00322950" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00322951" "" "" "" "1" "" "00085" "{PMID:Chipman et al., 1992:1642148}" "Skips exon 12.The technique used was ribonuclease A analysis (RNaseA)." "" "" "" "" "0" "" "" "" "" "00322952" "" "" "" "1" "" "00085" "{PMID:Ward et al., 2001:11317364}" "" "" "" "" "" "0" "" "" "" "" "00322953" "" "" "" "1" "" "00085" "{PMID:Lee et al., 2006:16705691}" "" "" "" "" "" "0" "" "" "" "" "00322954" "" "" "" "1" "" "00085" "{DOI:Sagert et al., 2007:10.1055/s-2007-972536}" "" "" "" "" "" "0" "" "" "" "" "00322955" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00322956" "" "" "" "1" "" "03885" "{PMID:Bardai et al.,2016:27509835}" "" "" "" "" "" "0" "" "" "" "" "00322957" "" "" "" "1" "" "03853" "" "This patient is described as Individual T6 by {PMID25086671:Rauch et al., 2014}." "" "" "" "" "0" "" "" "" "" "00322958" "" "" "" "1" "" "01819" "" "" "" "" "" "" "0" "" "" "" "" "00322959" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00322960" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00322961" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00322962" "" "" "" "1" "" "00085" "{PMID:Pollitt et al., 2006:16786509}" "" "" "" "" "" "0" "" "" "" "" "00322963" "" "" "" "1" "" "00475" "" "" "" "" "" "" "0" "" "" "white" "" "00322964" "" "" "" "1" "" "03879" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "" "" "0" "" "" "Swedish" "" "00322965" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00322966" "" "" "" "1" "" "00085" "{PMID:Roschger et al., 2008:18311573}" "This patient was subsequently presented as Patient 6 by {PMID24296239:Fratzl-Zelman et al.,2014}." "" "" "" "" "0" "" "" "" "" "00322967" "" "" "" "1" "" "03872" "" "" "" "" "" "" "0" "" "" "Chinese Han" "" "00322968" "" "" "" "1" "" "00085" "{PMID:Takagi et al., 2015:25858481}" "The patient has a very severe phenotype and is described as a a long term survivor of lethal type II OI.The patient\'s father was identified as being mosaic for the c.704G>A variant.The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "Japanese" "" "00322969" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Marini, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00322970" "" "" "" "1" "" "00085" "{PMID:Zhuang et al., 1996:8829649}" "" "" "" "" "" "0" "" "" "" "" "00322971" "" "" "" "1" "" "03853" "" "" "" "" "" "" "0" "" "" "white" "" "00322972" "" "" "" "1" "" "00085" "{PMID:Zhuang et al., 1993:7916744}" "Skips exon 13." "" "" "" "" "0" "" "" "" "" "00322973" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00322974" "" "" "" "1" "" "00085" "{PMID:Costantini et al., 2018:29572562}" "The index patient and her affected sister are describedas having moderately severe OI, whereas the variant carriers lacked OI manifestations." "" "" "" "" "0" "" "" "Greek-Cypriot" "" "00322975" "" "" "" "1" "" "03853" "" "" "" "" "" "" "0" "" "" "white" "" "00322976" "" "" "" "1" "" "00085" "{PMID:Ward et al., 2001:11317364}" "" "" "" "" "" "0" "" "" "" "" "00322977" "" "" "" "1" "" "00085" "{PMID:Götherström et al., 2013:24342908}" "" "F" "" "" "" "0" "" "" "" "" "00322978" "" "" "" "1" "" "00085" "{PMID:Brizola et al., 2015:26604951}" "The patient exhibits bulbous epiphyses and popcorn calcification. The COL1A2 variant is of unknown significance." "" "" "" "" "0" "" "" "Asian ethnicity" "" "00322979" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "Skips exon 14." "" "" "" "" "0" "" "" "" "" "00322980" "" "" "" "1" "" "00085" "{PMID:Stephen et al., 2014:24668929}" "familial" "" "" "" "" "0" "" "" "" "" "00322981" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00322982" "" "" "" "1" "" "03865" "" "" "" "" "" "" "0" "" "" "" "" "00322983" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00322984" "" "" "" "1" "" "01819" "" "" "" "" "" "" "0" "" "" "" "" "00322985" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "Skips exon 14." "" "" "" "" "0" "" "" "" "" "00322986" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "Skips exon 14." "" "" "" "" "0" "" "" "" "" "00322987" "" "" "" "1" "" "00085" "{PMID:Trancozo et al., 2019:31429852}" "" "" "" "" "" "0" "" "" "Brazilian" "" "00322988" "" "" "" "1" "" "00475" "" "Familial cosegregation of the mutation and disease" "" "" "" "" "0" "" "" "white" "" "00322989" "" "" "" "1" "" "01819" "{PMID:Malfait et al., 2013:23692737}" "The patient has a causal COL1A2 splice site mutation (skips exon 14).The COL1A1 variant (Asn to Ser) is not expected to have serious consequences; probably mild phenotype." "" "" "" "" "0" "" "" "" "" "00322990" "" "" "" "1" "" "03853" "" "This patient is described as Individual T9 by {PMID25086671:Rauch et al., 2014}." "" "" "" "" "0" "" "" "" "" "00322991" "" "" "" "1" "" "00085" "{PMID:Rauch et al., 2014:25086671}" "" "" "" "" "" "0" "" "" "" "" "00322992" "" "" "" "1" "" "03704" "{PMID:Bodian et al., 2009:18996919}" "" "" "" "" "" "0" "" "" "" "" "00322993" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "Skips exon 16." "" "" "" "" "0" "" "" "" "" "00322994" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00322995" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00322996" "" "" "" "1" "" "03852" "" "" "" "" "" "" "0" "" "" "Japanese" "" "00322997" "" "" "" "1" "" "03872" "" "The technique used was whole genome sequencing." "" "" "" "" "0" "" "" "Chinese Han" "" "00322998" "" "" "" "1" "" "03855" "" "" "" "" "" "" "0" "" "" "" "" "00322999" "" "" "" "1" "" "00085" "{PMID:Trancozo et al., 2019:31429852}" "" "" "" "" "" "0" "" "" "Brazilian" "" "00323000" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323001" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323002" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323003" "" "" "" "1" "" "00085" "{PMID:Caparros-Martin et al., 2016:28116328}" "The technique used was whole exome sequencing." "" "" "" "" "0" "" "" "Egyptian" "" "00323004" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication" "" "" "" "" "" "0" "" "" "" "" "00323005" "" "" "" "1" "" "03855" "" "" "" "" "" "" "0" "" "" "" "" "00323006" "" "" "" "1" "" "03855" "" "" "" "" "" "" "0" "" "" "" "" "00323007" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323008" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323009" "" "" "" "1" "" "03872" "" "" "" "" "" "" "0" "" "" "Han Chinese" "" "00323010" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323011" "" "" "" "1" "" "00085" "{PMID:Pollitt et al., 2006:16786509}" "This patient is described in {PMID:Parmar et al., 2007:17233315}." "" "" "" "" "0" "" "" "" "" "00323012" "" "" "" "1" "" "03891" "" "The technique used was whole genome sequencing." "" "" "" "" "0" "" "" "" "" "00323013" "" "" "" "1" "" "03869" "" "Left ear malformation with lack of external ear canal. Severe bone fragility.This patient harbours another variant COL1A1." "" "" "" "" "0" "" "" "Brazilian" "" "00323014" "" "" "" "1" "" "03872" "" "" "" "" "" "" "0" "" "" "Chinese Han" "" "00323015" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323016" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323017" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323018" "" "" "" "1" "" "00085" "{PMID:Filie et al., 1993:8257992}" "The technique used was ribonuclease A analysis (RNaseA)." "" "" "" "" "0" "" "" "" "" "00323019" "" "" "" "1" "" "00085" "{PMID:Ho Duy et al., 2016:27519266}" "" "" "" "" "" "0" "" "" "Vietnamese" "" "00323020" "" "" "" "1" "" "00085" "{PMID:Ward et al., 2001:11317364}" "Skips exon 16." "" "" "" "" "0" "" "" "" "" "00323021" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323022" "" "" "" "1" "" "00085" "{PMID:Zhang et al., 2011:21667357}" "" "" "" "" "" "0" "" "" "Han Chinese" "" "00323023" "" "" "" "1" "" "00085" "{PMID:Zolezzi et al., 1995:8535451}" "Skips exon 16." "" "" "" "" "0" "" "" "" "" "00323024" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323025" "" "" "" "1" "" "03872" "" "" "" "" "" "" "0" "" "" "Han Chinese" "" "00323026" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323027" "" "" "" "1" "" "03869" "" "The patient has bilateral hypoplasia of the 4th metatarsal." "" "" "" "" "0" "" "" "Brazilian" "" "00323028" "" "" "" "1" "" "03879" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "" "" "0" "" "" "Swedish" "" "00323029" "" "" "" "1" "" "03879" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "" "" "0" "" "" "Swedish" "" "00323030" "" "" "" "1" "" "00085" "{PMID:Lund et al., 1997:9240878}" "" "" "" "" "" "0" "" "" "" "" "00323031" "" "" "" "1" "" "03853" "" "" "" "" "" "" "0" "" "" "white" "" "00323032" "" "" "" "1" "" "03865" "" "" "" "" "" "" "0" "" "" "" "" "00323033" "" "" "" "1" "" "03865" "" "" "" "" "" "" "0" "" "" "" "" "00323034" "" "" "" "1" "" "03879" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "" "" "0" "" "" "Swedish" "" "00323035" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323036" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323037" "" "" "" "1" "" "03853" "" "" "" "" "" "" "0" "" "" "" "" "00323038" "" "" "" "1" "" "03853" "" "" "" "" "" "" "0" "" "" "" "" "00323039" "" "" "" "1" "" "00085" "{dbSNP368468}" "" "" "" "" "" "0" "" "" "" "" "00323040" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323041" "" "" "" "1" "" "03870" "{PMID:Gentile et al., 2013:22753364}" "" "" "" "" "" "0" "" "" "" "" "00323042" "" "" "" "1" "" "03865" "" "" "" "" "" "" "0" "" "" "Chinese" "" "00323043" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323044" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323045" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323046" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323047" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323048" "" "" "" "1" "" "00085" "{PMID:Árvai et al., 2016:27335225}" "The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "white" "" "00323049" "" "" "" "1" "" "00085" "{PMID:Zhang et al., 2017:27748872}" "" "" "" "" "" "0" "" "" "Han Chinese" "" "00323050" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323051" "" "" "" "1" "" "00085" "{PMID:Ward et al., 2001:11317364}" "" "" "" "" "" "0" "" "" "" "" "00323052" "" "" "" "1" "" "03853" "" "" "" "" "" "" "0" "" "" "Hispanic" "" "00323053" "" "" "" "1" "" "00085" "{PMID:Shaheen et al., 2012:23054245}" "The patient has an affected sibling harbouring the same variant and their father has somatic/gonadal mosaicism for this variant." "" "" "" "" "0" "" "" "Saudi Arabian" "" "00323054" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Marini and Barnes, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323055" "" "" "" "1" "" "03870" "{PMID:Gentile et al., 2013:22753364}" "The variant in this patient is incorrectly described by the authors as resulting in a frameshift." "" "" "" "" "0" "" "" "" "" "00323056" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323057" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323058" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323059" "" "" "" "1" "" "00475" "" "" "" "" "" "" "0" "" "" "white" "" "00323060" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323061" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323062" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323063" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323064" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323065" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323066" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Marini and Barnes, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323067" "" "" "" "1" "" "00085" "{PMID:Roschger et al., 2008:18311573}" "This patient was subsequently presented as Patient 7 by {PMID24296239:Fratzl-Zelman et al.,2014}." "" "" "" "" "0" "" "" "" "" "00323068" "" "" "" "1" "" "00085" "{PMID:Roschger et al., 2008:18311573}" "This patient was subsequently presented as Patient 16 by {PMID24296239:Fratzl-Zelman et al.,2014}." "" "" "" "" "0" "" "" "" "" "00323069" "" "" "" "1" "" "03702" "" "" "" "" "" "" "0" "" "" "white" "" "00323070" "" "" "" "1" "" "03853" "{dbSNP72656387}" "" "" "" "" "" "0" "" "" "" "" "00323071" "" "" "" "1" "" "03855" "" "" "" "" "" "" "0" "" "" "" "" "00323072" "" "" "" "1" "" "03855" "" "" "" "" "" "" "0" "" "" "" "" "00323073" "" "" "" "1" "" "00475" "" "" "" "" "" "" "0" "" "" "white" "" "00323074" "" "" "" "1" "" "03702" "" "" "" "" "" "" "0" "" "" "white" "" "00323075" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323076" "" "" "" "1" "" "00085" "{PMID:Zhang et al., 2011:21667357}" "" "" "" "" "" "0" "" "" "Han Chinese" "" "00323077" "" "" "" "1" "" "01819" "" "" "" "" "" "" "0" "" "" "" "" "00323078" "" "" "" "1" "" "03865" "" "" "" "" "" "" "0" "" "" "" "" "00323079" "" "" "" "1" "" "00085" "{PMID:Rauch et al., 2014:25086671}" "" "" "" "" "" "0" "" "" "" "" "00323080" "" "" "" "1" "" "03879" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "" "" "0" "" "" "Swedish" "" "00323081" "" "" "" "1" "" "03872" "" "" "" "" "" "" "0" "" "" "Chinese Han" "" "00323082" "" "" "" "1" "" "03872" "" "" "" "" "" "" "0" "" "" "Chinese Han" "" "00323083" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323084" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323085" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323086" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323087" "" "" "" "1" "" "00085" "{PMID:Ho Duy et al., 2016:27519266}" "" "" "" "" "" "0" "" "" "Vietnamese" "" "00323088" "" "" "" "1" "" "03865" "" "" "" "" "" "" "0" "" "" "" "" "00323089" "" "" "" "1" "" "03704" "{PMID:Bodian et al., 2009:18996919}" "" "" "" "" "" "0" "" "" "" "" "00323090" "" "" "" "1" "" "00085" "{PMID:Rauch et al., 2014:25086671}" "" "" "" "" "" "0" "" "" "" "" "00323091" "" "" "" "1" "" "03879" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "" "" "0" "" "" "" "" "00323092" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323093" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323094" "" "" "" "1" "" "00085" "{PMID:Ward et al., 2001:11317364}" "" "" "" "" "" "0" "" "" "" "" "00323095" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323096" "" "" "" "1" "" "03855" "" "" "" "" "" "" "0" "" "" "" "" "00323097" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323098" "" "" "" "1" "" "03865" "" "" "" "" "" "" "0" "" "" "" "" "00323099" "" "" "" "1" "" "03897" "{PMID:Zhytnik 2017:28810924}" "" "" "" "Estonia" "" "0" "" "" "" "EE29" "00323100" "" "" "" "1" "" "03855" "" "" "" "" "" "" "0" "" "" "" "" "00323101" "" "" "" "1" "" "00085" "Krakow et al. 1996 {Localkrakow_et_al_1996.pdf:View abstract}" "" "" "" "" "" "0" "" "" "" "" "00323102" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323103" "" "" "" "1" "" "03879" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "" "" "0" "" "" "" "" "00323104" "" "" "" "1" "" "03879" "{PMID:Lindahl et al., 2015:25944380}" "Mother short stature, multiple vertebral compression fractures and diagnosed as idiopathic osteoporosis. Patient and sibling bluish sclera but normal teeth and referred for sequencing of COL1A1 and COL1A2. Same glycine substitution found in both." "" "" "" "" "0" "" "" "" "" "00323105" "" "" "" "1" "" "00085" "{PMID:Ho Duy et al., 2016:27519266}" "" "" "" "" "" "0" "" "" "Vietnamese" "" "00323106" "" "" "" "1" "" "00085" "{PMID:Rolvien et al., 2018:29946973}" "The DNA-level variant data and OI phenotype were provided by Dr Tim Rolvien." "" "" "" "" "0" "" "" "" "" "00323107" "" "" "" "1" "" "00085" "{PMID:Rolvien et al., 2018:29946973}" "The DNA-level variant data and OI phenotype were provided by Dr Tim Rolvien." "" "" "" "" "0" "" "" "" "" "00323108" "" "" "" "1" "" "00085" "{PMID:Rolvien et al., 2018:29946973}" "The DNA-level variant data and OI phenotype were provided by Dr Tim Rolvien." "" "" "" "" "0" "" "" "" "" "00323109" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323110" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323111" "" "" "" "1" "" "00085" "{PMID:Mrosk et al., 2018:29499418}" "" "" "" "" "" "0" "" "" "Indian" "" "00323112" "" "" "" "1" "" "03890" "E. Mornet, personal communication" "The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "" "" "00323113" "" "" "" "1" "" "03872" "" "The technique used was whole genome sequencing." "" "" "" "" "0" "" "" "Chinese Han" "" "00323114" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Cohn, King and Krakow, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323115" "" "" "" "1" "" "00085" "{PMID:Fuccio et al., 2011:21884818}" "The intron 17 variant in this patient is demonstrated not to result in defective splicing. It may represent a rare variant in the population." "" "" "" "" "0" "" "" "" "" "00323116" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323117" "" "" "" "1" "" "00085" "{PMID:Ward et al., 2001:11317364}" "" "" "" "" "" "0" "" "" "" "" "00323118" "" "" "" "1" "" "00085" "{PMID:Ho Duy et al., 2016:27519266}" "" "" "" "" "" "0" "" "" "Vietnamese" "" "00323119" "" "" "" "1" "" "00085" "{PMID:Lin et al., 2014:24486247}" "X-rays of Patient 4 in Figure 3 of the published account are consistent with a modeartely severe OI phenotype.The authors have confirmed that the variant in this patient is misreported in the published account as being in COL1A1." "" "" "" "" "0" "" "" "" "" "00323120" "" "" "" "1" "" "00085" "{PMID:Kaux et al., 2009:19317096}" "" "" "" "" "" "0" "" "" "" "" "00323121" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323122" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323123" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323124" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323125" "" "" "" "1" "" "01819" "" "" "" "" "" "" "0" "" "" "" "" "00323126" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Marini and Cabral, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323127" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323128" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323129" "" "" "" "1" "" "00475" "" "The variant detected in this patient appears to be a moderately frequent polymorphism which is recorded in dbSNP. Consequently, it is probably not the disease-causing mutation." "" "" "" "" "0" "" "" "white" "" "00323130" "" "" "" "1" "" "03872" "" "The splice acceptor site variant in this patient diminishes the splice-site scores only slightly compared with the reference sequence." "" "" "" "" "0" "" "" "Han Chinese" "" "00323131" "" "" "" "1" "" "00085" "{PMID:Wang et al., 2015:25742658} {PMID:Wang et al., 2015:25933069}" "The splice acceptor site variant in this patient diminishes the splice-site scores only slightly compared with the reference sequence." "" "" "" "" "0" "" "" "Chinese" "" "00323132" "" "" "" "1" "" "03853" "" "This patient is described as Individual T7 by {PMID25086671:Rauch et al., 2014}." "" "" "" "" "0" "" "" "white" "" "00323133" "" "" "" "1" "" "00475" "" "" "" "" "" "" "0" "" "" "white" "" "00323134" "" "" "" "1" "" "03870" "{PMID:Gentile et al., 2013:22753364}" "" "" "" "" "" "0" "" "" "" "" "00323135" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323136" "" "" "" "1" "" "00085" "{PMID:Zhang et al., 2017:27748872}" "" "" "" "" "" "0" "" "" "Han Chinese" "" "00323137" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323138" "" "" "" "1" "" "00085" "{PMID:Rong et al., 2015:25608812}" "" "" "" "" "" "0" "" "" "" "" "00323139" "" "" "" "1" "" "00085" "{dbSNP34511999}" "" "" "" "" "" "0" "" "" "" "" "00323140" "" "" "" "1" "" "00085" "{PMID:Pollitt et al., 2006:16786509}" "" "" "" "" "" "0" "" "" "" "" "00323141" "" "" "" "1" "" "03865" "" "" "" "" "" "" "0" "" "" "" "" "00323142" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323143" "" "" "" "1" "" "00085" "{PMID:Hartikka et al., 2004:15241796}" "" "" "" "" "" "0" "" "" "" "" "00323144" "" "" "" "1" "" "03855" "" "" "" "" "" "" "0" "" "" "" "" "00323145" "" "" "" "1" "" "03892" "" "" "" "" "" "" "0" "" "" "" "" "00323146" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323147" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323148" "" "" "" "1" "" "00085" "{PMID:Lee et al., 2006:16705691}" "" "" "" "" "" "0" "" "" "" "" "00323149" "" "" "" "1" "" "03704" "{PMID:Bodian et al., 2009:18996919}" "" "" "" "" "" "0" "" "" "" "" "00323150" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323151" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323152" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323153" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323154" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323155" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323156" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323157" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323158" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323159" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323160" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323161" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323162" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Marini and Cabral, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323163" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Marini, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323164" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323165" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323166" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323167" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323168" "" "" "" "1" "" "00085" "{PMID:Rose et al., 1995:7860070}" "" "" "" "" "" "0" "" "" "" "" "00323169" "" "" "" "1" "" "03704" "{PMID:Pepin et al., 1997:9203215}" "" "" "" "" "" "0" "" "" "" "" "00323170" "" "" "" "1" "" "00085" "{PMID:Nuytinck et al., 1997:9272740}" "" "" "" "" "" "0" "" "" "" "" "00323171" "" "" "" "1" "" "00085" "{PMID:Nuytinck et al., 1997:9272740}" "" "" "" "" "" "0" "" "" "" "" "00323172" "" "" "" "1" "" "00085" "{PMID:Lund et al., 1998:9594376}" "" "" "" "" "" "0" "" "" "" "" "00323173" "" "" "" "1" "" "00085" "{OLDASHG00:2332:Reid et al., 2000}" "" "" "" "" "" "0" "" "" "" "" "00323174" "" "" "" "1" "" "00085" "{PMID:Lee et al., 2006:16705691}" "" "" "" "" "" "0" "" "" "" "" "00323175" "" "" "" "1" "" "00085" "{PMID:Lee et al., 2006:16705691}" "" "" "" "" "" "0" "" "" "" "" "00323176" "" "" "" "1" "" "00085" "{PMID:Lee et al., 2006:16705691}" "" "" "" "" "" "0" "" "" "" "" "00323177" "" "" "" "1" "" "00085" "{PMID:Lee et al., 2006:16705691}" "" "" "" "" "" "0" "" "" "" "" "00323178" "" "" "" "1" "" "00085" "{PMID:Lee et al., 2006:16705691}" "" "" "" "" "" "0" "" "" "" "" "00323179" "" "" "" "1" "" "00085" "{PMID:Kataoka et al., 2007:17875077}" "" "" "" "" "" "0" "" "" "" "" "00323180" "" "" "" "1" "" "03853" "" "" "" "" "" "" "0" "" "" "Hispanic" "" "00323181" "" "" "" "1" "" "00085" "{PMID:Zhang et al., 2011:21667357}" "" "" "" "" "" "0" "" "" "Han Chinese" "" "00323182" "" "" "" "1" "" "01819" "" "" "" "" "" "" "0" "" "" "" "" "00323183" "" "" "" "1" "" "03865" "" "" "" "" "" "" "0" "" "" "" "" "00323184" "" "" "" "1" "" "03865" "" "" "" "" "" "" "0" "" "" "" "" "00323185" "" "" "" "1" "" "03865" "" "" "" "" "" "" "0" "" "" "" "" "00323186" "" "" "" "1" "" "03865" "" "" "" "" "" "" "0" "" "" "" "" "00323187" "" "" "" "1" "" "03865" "" "" "" "" "" "" "0" "" "" "" "" "00323188" "" "" "" "1" "" "03865" "" "" "" "" "" "" "0" "" "" "" "" "00323189" "" "" "" "1" "" "03865" "" "" "" "" "" "" "0" "" "" "" "" "00323190" "" "" "" "1" "" "03865" "" "" "" "" "" "" "0" "" "" "" "" "00323191" "" "" "" "1" "" "03865" "" "" "" "" "" "" "0" "" "" "" "" "00323192" "" "" "" "1" "" "00085" "{PMID:Stephen et al., 2014:24668929}" "" "" "" "" "" "0" "" "" "" "" "00323193" "" "" "" "1" "" "00085" "{PMID:Stephen et al., 2014:24668929}" "Family history of OI" "" "" "" "" "0" "" "" "" "" "00323194" "" "" "" "1" "" "03872" "{PMID:Wang et al., 2015:26307460}" "This is Pateint 3 in {PMID26307460:Wang et al., 2015}." "" "" "" "" "0" "" "" "Han Chinese" "" "00323195" "" "" "" "1" "" "00085" "{PMID:Ho Duy et al., 2016:27519266}" "" "" "" "" "" "0" "" "" "Vietnamese" "" "00323196" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323197" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323198" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323199" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323200" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323201" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323202" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323203" "" "" "" "1" "" "03897" "{PMID:Zhytnik 2019:31447884}" "" "" "" "Ukraine" "" "0" "" "" "" "UA54" "00323204" "" "" "" "1" "" "00085" "{PMID:Trummer et al., 2001:11359465}" "" "" "" "" "" "0" "" "" "" "" "00323205" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323206" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323207" "" "" "" "1" "" "00085" "{PMID:Barkova et al., 2014:24863959}" "" "" "" "" "" "0" "" "" "" "" "00323208" "" "" "" "1" "" "00085" "{PMID:Lund et al., 1999:10408781}" "" "" "" "" "" "0" "" "" "" "" "00323209" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323210" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Marini, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323211" "" "" "" "1" "" "01819" "" "" "" "" "" "" "0" "" "" "" "" "00323212" "" "" "" "1" "" "03865" "" "" "" "" "" "" "0" "" "" "" "" "00323213" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323214" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323215" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323216" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323217" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323218" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323219" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Marini and Cabral, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323220" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323221" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323222" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323223" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323224" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323225" "" "" "" "1" "" "00085" "{PMID:Roschger et al., 2008:18311573}" "This patient was subsequently presented as Patient 13 by {PMID24296239:Fratzl-Zelman et al.,2014}." "" "" "" "" "0" "" "" "" "" "00323226" "" "" "" "1" "" "00085" "{PMID:Zhuang et al., 1996:8829649}" "" "" "" "" "" "0" "" "" "" "" "00323227" "" "" "" "1" "" "00085" "{PMID:De Vos et al., 2000:10942108}" "" "" "" "" "" "0" "" "" "" "" "00323228" "" "" "" "1" "" "03855" "" "" "" "" "" "" "0" "" "" "" "" "00323229" "" "" "" "1" "" "03855" "" "" "" "" "" "" "0" "" "" "" "" "00323230" "" "" "" "1" "" "03855" "" "" "" "" "" "" "0" "" "" "" "" "00323231" "" "" "" "1" "" "03855" "" "" "" "" "" "" "0" "" "" "" "" "00323232" "" "" "" "1" "" "03855" "" "" "" "" "" "" "0" "" "" "" "" "00323233" "" "" "" "1" "" "00475" "" "" "" "" "" "" "0" "" "" "white" "" "00323234" "" "" "" "1" "" "00085" "{PMID:Zhang et al., 2011:21667357}" "" "" "" "" "" "0" "" "" "Han Chinese" "" "00323235" "" "" "" "1" "" "01819" "" "" "" "" "" "" "0" "" "" "" "" "00323236" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323237" "" "" "" "1" "" "03879" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "" "" "0" "" "" "Swedish" "" "00323238" "" "" "" "1" "" "03879" "{PMID:Lindahl et al., 2015:25944380}" "Mother has OI IB. This patient is a baby and does not have teeth yet." "" "" "" "" "0" "" "" "Swedish" "" "00323239" "" "" "" "1" "" "03879" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "" "" "0" "" "" "Swedish" "" "00323240" "" "" "" "1" "" "03879" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "" "" "0" "" "" "Swedish" "" "00323241" "" "" "" "1" "" "03879" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "" "" "0" "" "" "" "" "00323242" "" "" "" "1" "" "00085" "{PMID:Caparros-Martin et al., 2016:28116328}" "The technique used was whole exome sequencing." "" "" "" "" "0" "" "" "Spanish" "" "00323243" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323244" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323245" "" "" "" "1" "" "00085" "{PMID:Ho Duy et al., 2016:27519266}" "" "" "" "" "" "0" "" "" "Vietnamese" "" "00323246" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323247" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323248" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323249" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323250" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323251" "" "" "" "1" "" "03897" "{PMID:Zhytnik 2017:28810924}" "" "" "" "Estonia" "" "0" "" "" "" "EE15" "00323252" "" "" "" "1" "" "00085" "{PMID:Zhang et al., 2017:27748872}" "" "" "" "" "" "0" "" "" "Han Chinese" "" "00323253" "" "" "" "1" "" "00085" "{PMID:Zhang et al., 2017:27748872}" "" "" "" "" "" "0" "" "" "Han Chinese" "" "00323254" "" "" "" "1" "" "03897" "{PMID:Zhytnik 2019:31447884}" "" "" "" "Ukraine" "" "0" "" "" "" "UA65" "00323255" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323256" "" "" "" "1" "" "00085" "Marini et al., 1993b {Localmarini_et_al_1993b.pdf:View abstract}" "The technique used was ribonuclease A analysis (RNaseA)." "" "" "" "" "0" "" "" "" "" "00323257" "" "" "" "1" "" "00085" "{PMID:Lund et al., 1999:10408781}" "" "" "" "" "" "0" "" "" "" "" "00323258" "" "" "" "1" "" "03865" "" "" "" "" "" "" "0" "" "" "" "" "00323259" "" "" "" "1" "" "03865" "" "" "" "" "" "" "0" "" "" "" "" "00323260" "" "" "" "1" "" "00085" "{PMID:Jia et al., 2017:28953610}" "" "" "" "" "" "0" "" "" "Chinese" "" "00323261" "" "" "" "1" "" "00085" "{PMID:Ward et al., 2001:11317364}" "" "" "" "" "" "0" "" "" "" "" "00323262" "" "" "" "1" "" "03855" "" "" "" "" "" "" "0" "" "" "" "" "00323263" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Marini, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323264" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323265" "" "" "" "1" "" "03853" "" "" "" "" "" "" "0" "" "" "white" "" "00323266" "" "" "" "1" "" "01819" "" "" "" "" "" "" "0" "" "" "" "" "00323267" "" "" "" "1" "" "01819" "" "" "" "" "" "" "0" "" "" "" "" "00323268" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323269" "" "" "" "1" "" "00085" "{dbSNP16868573}" "" "" "" "" "" "0" "" "" "" "" "00323270" "" "" "" "1" "" "00085" "{PMID:Rauch et al., 2014:25086671}" "" "" "" "" "" "0" "" "" "" "" "00323271" "" "" "" "1" "" "01819" "{PMID:Essawi 2018:29150909}" "" "" "" "Palestine" "" "0" "" "" "Palestinian" "AN_005810" "00323272" "" "" "" "1" "" "00085" "{PMID:Molyneux et al., 1993:8444468}" "The technique used was ribonuclease A analysis (RNaseA)." "" "" "" "" "0" "" "" "" "" "00323273" "" "" "" "1" "" "03702" "" "" "" "" "" "" "0" "" "" "white" "" "00323274" "" "" "" "1" "" "03704" "{PMID:Pyott et al., 2011:21239989}" "" "" "" "" "" "0" "" "" "" "" "00323275" "" "" "" "1" "" "00085" "{PMID:Chen et al., 2012:22795120}" "" "" "" "" "" "0" "" "" "" "" "00323276" "" "" "" "1" "" "00085" "{PMID:Lee et al., 2006:16705691}" "" "" "" "" "" "0" "" "" "" "" "00323277" "" "" "" "1" "" "00085" "{PMID:Pollitt et al., 2006:16786509}" "Deletes exon 20." "" "" "" "" "0" "" "" "" "" "00323278" "" "" "" "1" "" "00085" "{PMID:Choi et al., 2014:24616597}" "The patient\'s father is confirmed as having OI type IB." "" "" "" "" "0" "" "" "" "" "00323279" "" "" "" "1" "" "00085" "{PMID:Mottes et al., 1994:8005592}" "Skips exon 20." "" "" "" "" "0" "" "" "" "" "00323280" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323282" "" "" "" "1" "" "00085" "{PMID:Rauch et al., 2014:25086671}" "" "" "" "" "" "0" "" "" "" "" "00323283" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Mottes and Lievore, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323284" "" "" "" "1" "" "00085" "{PMID:Caparros-Martin et al., 2016:28116328}" "The technique used was whole exome sequencing." "" "" "" "" "0" "" "" "Ecuadorian" "" "00323285" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323286" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Lund, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323287" "" "" "" "1" "" "03879" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "" "" "0" "" "" "Swedish" "" "00323288" "" "" "" "1" "" "03704" "{PMID:Wenstrup et al., 1991:1990009}" "This is Family C in Wenstrup et al., 1991. The patient ID and OI type are taken from {PMID2066103:Cohn and Byers, 1991}." "" "" "" "" "0" "" "" "" "" "00323289" "" "" "" "1" "" "00085" "{PMID:Mrosk et al., 2018:29499418}" "Mutation absent in the patient\'s parents." "" "" "" "" "0" "" "" "Indian" "" "00323290" "" "" "" "1" "" "03855" "" "" "" "" "" "" "0" "" "" "" "" "00323291" "" "" "" "1" "" "03855" "" "" "" "" "" "" "0" "" "" "" "" "00323292" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Marini and Cabral, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323293" "" "" "" "1" "" "00085" "{PMID:Lee et al., 2006:16705691}" "" "" "" "" "" "0" "" "" "" "" "00323294" "" "" "" "1" "" "03702" "" "This child was aborted at 20 weeks so the diagnosis of OI II is provisional." "" "" "" "" "0" "" "" "white" "" "00323295" "" "" "" "1" "" "01819" "" "" "" "" "" "" "0" "" "" "" "" "00323296" "" "" "" "1" "" "03867" "" "" "" "" "" "" "0" "" "" "European" "" "00323297" "" "" "" "1" "" "00085" "{PMID:Kishta et al., 2015:26371943}" "" "" "" "" "" "0" "" "" "" "" "00323298" "" "" "" "1" "" "00085" "{PMID:Taillandier et al., 2015:26432670}" "The patient is also reported as being heterozygous for the c.95_97del variant in the PHOSPHO1 gene. The reference sequence is not specified, but is presumbed to be NM_001143804.1.The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "" "" "00323299" "" "" "" "1" "" "01819" "{PMID:Essawi 2018:29150909}" "" "" "" "Palestine" "" "0" "" "" "Palestinian" "AN_005809" "00323300" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323301" "" "" "" "1" "" "00085" "{PMID:Lund et al., 1997:9240878}" "" "" "" "" "" "0" "" "" "" "" "00323302" "" "" "" "1" "" "00085" "{PMID:Ho Duy et al., 2016:27519266}" "The protein alteration is incorrectly reported as p.Gly358Ser" "" "" "" "" "0" "" "" "Vietnamese" "" "00323303" "" "" "" "1" "" "00085" "{PMID:Caparros-Martin et al., 2016:28116328}" "The technique used was whole exome sequencing." "" "" "" "" "0" "" "" "Venezuelan" "" "00323304" "" "" "" "1" "" "00085" "{PMID:Talebi et al., 2017:28431466}" "" "" "" "" "" "0" "" "" "Iranian" "" "00323305" "" "" "" "1" "" "00085" "{PMID:Talebi et al., 2017:28431466}" "" "" "" "" "" "0" "" "" "Iranian" "" "00323306" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323307" "" "" "" "1" "" "00085" "{PMID:Ward et al., 2001:11317364}" "The mutation is incorrectly described as c.1091G>A in {PMID:Marini et al., 2007:17078022}." "" "" "" "" "0" "" "" "" "" "00323308" "" "" "" "1" "" "00085" "{PMID:Ho Duy et al., 2016:27519266}" "" "" "" "" "" "0" "" "" "Vietnamese" "" "00323309" "" "" "" "1" "" "00085" "{PMID:Nuytinck et al., 2000:10807697}" "The mutation is incorrectly described as c.1100G>A in {PMID:Marini et al., 2007:17078022}." "" "" "" "" "0" "" "" "" "" "00323310" "" "" "" "1" "" "00085" "{PMID:Stephen et al., 2014:24668929}" "" "" "" "" "" "0" "" "" "" "" "00323311" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Lund, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323312" "" "" "" "1" "" "00085" "{PMID:Lund et al., 1997:9240878}" "" "" "" "" "" "0" "" "" "" "" "00323313" "" "" "" "1" "" "00085" "{PMID:Hartikka et al., 2004:15241796}" "" "" "" "" "" "0" "" "" "" "" "00323314" "" "" "" "1" "" "00085" "{PMID:Caparros-Martin et al., 2016:28116328}" "The technique used was whole exome sequencing." "" "" "" "" "0" "" "" "Turkish" "" "00323315" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323316" "" "" "" "1" "" "00085" "{PMID:Lund et al., 1997:9240878}" "" "" "" "" "" "0" "" "" "" "" "00323317" "" "" "" "1" "" "03704" "{PMID:Pyott et al., 2011:21239989}" "There was one previously affected infant in this family with lethal OI in which prenatal diagnosis was done by mutation identification." "" "" "" "" "0" "" "" "" "" "00323318" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323319" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323320" "" "" "" "1" "" "00085" "{PMID:Wang et al., 2015:25742658} {PMID:Wang et al., 2015:25933069}" "The variant is misreported as being in exon 24. The error is corrected in the subsequently published erratum." "" "" "" "" "0" "" "" "Chinese" "" "00323321" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323322" "" "" "" "1" "" "03865" "" "" "" "" "" "" "0" "" "" "" "" "00323323" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323324" "" "" "" "1" "" "03870" "{PMID:Gentile et al., 2013:22753364}" "" "" "" "" "" "0" "" "" "" "" "00323325" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323326" "" "" "" "1" "" "03879" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "" "" "0" "" "" "Swedish" "" "00323327" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323328" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323329" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323330" "" "" "" "1" "" "03885" "{PMID:Bardai et al.,2016:27509835}" "" "" "" "" "" "0" "" "" "" "" "00323331" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323332" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323333" "" "" "" "1" "" "03855" "" "" "" "" "" "" "0" "" "" "" "" "00323334" "" "" "" "1" "" "00085" "{PMID:Wang et al., 2012:23227268}" "The c.1171G>A variant in this patient is known to be disease causing, but he exhibits no symptoms of OI. He also harbours a c.43T>A, p.Phe15Ile variant in the PAX9 gene which accounts for his tooth agenesis." "" "" "" "" "0" "" "" "European" "" "00323335" "" "" "" "1" "" "03879" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "" "" "0" "" "" "Swedish" "" "00323336" "" "" "" "1" "" "00085" "{PMID:Kantaputra et al., 2018:30152103}" "The technique used was whole exome sequencing." "" "" "" "" "0" "" "" "Thai" "" "00323337" "" "" "" "1" "" "00085" "{PMID:Ward et al., 2001:11317364}" "" "" "" "" "" "0" "" "" "" "" "00323338" "" "" "" "1" "" "03885" "{PMID:Bardai et al.,2016:27509835}" "" "" "" "" "" "0" "" "" "" "" "00323339" "" "" "" "1" "" "03704" "{PMID:Bodian et al., 2009:18996919}" "" "" "" "" "" "0" "" "" "" "" "00323340" "" "" "" "1" "" "00085" "{PMID:Superti-Furga et al., 1993:8339544}" "Skips exon 21." "" "" "" "" "0" "" "" "" "" "00323341" "" "" "" "1" "" "00085" "{PMID:Nicholls et al., 1996:8829655}" "Skips exon 21. Patient also has severe dentinogenesis imperfecta." "" "" "" "" "0" "" "" "" "" "00323342" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "Skips exon 21." "" "" "" "" "0" "" "" "" "" "00323343" "" "" "" "1" "" "03855" "" "" "" "" "" "" "0" "" "" "" "" "00323344" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323345" "" "" "" "1" "" "03879" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "" "" "0" "" "" "" "" "00323346" "" "" "" "1" "" "03872" "" "" "" "" "" "" "0" "" "" "Han Chinese" "" "00323347" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323348" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323349" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "Skips exon 21" "" "" "" "" "0" "" "" "" "" "00323350" "" "" "" "1" "" "03855" "" "Complete sequencing of COL1A1 and COL1A2, no other changes detected." "" "" "" "" "0" "" "" "" "" "00323351" "" "" "" "1" "" "03702" "" "" "" "" "" "" "0" "" "" "white" "" "00323352" "" "" "" "1" "" "00085" "{PMID:Zarate et al., 2016:27090748}" "" "" "" "" "" "0" "" "" "" "" "00323353" "" "" "" "1" "" "03872" "" "" "" "" "" "" "0" "" "" "Han Chinese" "" "00323354" "" "" "" "1" "" "00085" "{PMID:Augusciak-Duma et al., 2018:29543922}" "" "" "" "" "" "0" "" "" "Polish" "" "00323355" "" "" "" "1" "" "00085" "{PMID:Hartikka et al., 2004:15241796}" "" "" "" "" "" "0" "" "" "" "" "00323356" "" "" "" "1" "" "03897" "{PMID:Zhytnik 2019:31447884}" "" "" "" "Ukraine" "" "0" "" "" "" "UA90" "00323357" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323358" "" "" "" "1" "" "00085" "{PMID:Mottes et al., 1998:10627137}" "The technique used was ribonuclease A analysis (RNaseA)." "" "" "" "" "0" "" "" "" "" "00323359" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323360" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323361" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323364" "" "" "" "1" "" "03879" "{PMID:Lindahl et al., 2015:25944380}" "It is not known if the c.1268G>A variant influences the phenotype." "" "" "" "" "0" "" "" "Swedish" "" "00323365" "" "" "" "1" "" "03879" "{PMID:Lindahl et al., 2015:25944380}" "The OI-causing variant has not been identified in this patient. It is not known if the c.1268G>A variant influences the phenotype." "" "" "" "" "0" "" "" "Swedish" "" "00323366" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323367" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323368" "" "" "" "1" "" "01819" "" "" "" "" "" "" "0" "" "" "" "" "00323369" "" "" "" "1" "" "00085" "{PMID:Barkova et al., 2014:24863959}" "" "" "" "" "" "0" "" "" "" "" "00323370" "" "" "" "1" "" "00085" "{PMID:Barkova et al., 2014:24863959}" "The amino acid variant for this patient is mis-reported as p.Gly928Val by {PMID24863959:Barkova et al., 2014}." "" "" "" "" "0" "" "" "" "" "00323371" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323372" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Marini and Dawson, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323373" "" "" "" "1" "" "03855" "" "" "" "" "" "" "0" "" "" "" "" "00323374" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323375" "" "" "" "1" "" "00085" "{PMID:Rose et al., 1993:7906591}" "" "" "" "" "" "0" "" "" "" "" "00323376" "" "" "" "1" "" "00085" "{PMID:Akizawa et al., 2012:23181495}" "The patient\'s variant is presented only as p.G433E and is presumed to be the result of the c.1298G>A DNA-level variant." "" "" "" "" "0" "" "" "Japanese" "" "00323377" "" "" "" "1" "" "00085" "{PMID:Wang et al., 2015:25742658} {PMID:Wang et al., 2015:25933069}" "" "" "" "" "" "0" "" "" "Chinese" "" "00323378" "" "" "" "1" "" "00475" "" "de novo mutation" "" "" "" "" "0" "" "" "white" "" "00323379" "" "" "" "1" "" "00085" "{PMID:Reuter et al., 2013:24140640}" "" "" "" "" "" "0" "" "" "Belorussia/Russia" "" "00323380" "" "" "" "1" "" "01819" "" "" "" "" "" "" "0" "" "" "" "" "00323381" "" "" "" "1" "" "03885" "{PMID:Bardai et al.,2016:27509835}" "" "" "" "" "" "0" "" "" "" "" "00323382" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Nuytinck and De Paepe, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323383" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Cohn, King and Krakow, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323384" "" "" "" "1" "" "01819" "" "" "" "" "" "" "0" "" "" "" "" "00323385" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323386" "" "" "" "1" "" "03704" "{PMID:Bodian et al., 2009:18996919}" "" "" "" "" "" "0" "" "" "" "" "00323387" "" "" "" "1" "" "03704" "{PMID:Pyott et al., 2011:21239989}" "There was one previously affected infant in this family with lethal OI in which prenatal diagnosis was done by mutation identification." "" "" "" "" "0" "" "" "" "" "00323388" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323389" "" "" "" "1" "" "00085" "{PMID:Alamillo et al., 2015:26147564}" "The technique used was whole exome sequencing." "" "" "" "" "0" "" "" "" "" "00323390" "" "" "" "1" "" "03704" "{PMID:Bodian et al., 2009:18996919}" "Foetus with OI type II but father said to have OI type III or III/IV (possibly mosaic?)" "" "" "" "" "0" "" "" "" "" "00323391" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Marini and Cabral, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323392" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Marini, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323393" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323394" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323395" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323396" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323397" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323398" "" "" "" "1" "" "00085" "{PMID:Zhuang et al., 1996:8829649}" "" "" "" "" "" "0" "" "" "" "" "00323399" "" "" "" "1" "" "00085" "{PMID:Hartikka et al., 2004:15241796}" "" "" "" "" "" "0" "" "" "" "" "00323400" "" "" "" "1" "" "03702" "Lund, personal communication" "" "" "" "" "" "0" "" "" "Vietnamese" "" "00323401" "" "" "" "1" "" "03853" "{dbSNP72658118}" "" "" "" "" "" "0" "" "" "" "" "00323402" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323403" "" "" "" "1" "" "01819" "" "" "" "" "" "" "0" "" "" "" "" "00323404" "" "" "" "1" "" "01819" "" "" "" "" "" "" "0" "" "" "" "" "00323405" "" "" "" "1" "" "00085" "{PMID:Lin et al., 2015:26627451}" "" "" "" "" "" "0" "" "" "Taiwanese" "" "00323406" "" "" "" "1" "" "00085" "{PMID:Ho Duy et al., 2016:27519266}" "" "" "" "" "" "0" "" "" "Vietnamese" "" "00323407" "" "" "" "1" "" "03891" "" "" "" "" "" "" "0" "" "" "" "" "00323408" "" "" "" "1" "" "03704" "{PMID:Bodian et al., 2009:18996919}" "" "" "" "" "" "0" "" "" "Japanese" "" "00323409" "" "" "" "1" "" "03704" "{PMID:Johnson et al., 2002:11836364}" "" "" "" "" "" "0" "" "" "" "" "00323410" "" "" "" "1" "" "03879" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "" "" "0" "" "" "Swedish" "" "00323411" "" "" "" "1" "" "00085" "{PMID:Caparros-Martin et al., 2016:28116328}" "The technique used was whole exome sequencing." "" "" "" "" "0" "" "" "Spanish" "" "00323412" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323413" "" "" "" "1" "" "00085" "{PMID:Barkova et al., 2014:24863959}" "" "" "" "" "" "0" "" "" "" "" "00323414" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323415" "" "" "" "1" "" "03879" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "" "" "0" "" "" "Swedish" "" "00323416" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323417" "" "" "" "1" "" "03702" "Lund, personal communication" "" "" "" "" "" "0" "" "" "white" "" "00323418" "" "" "" "1" "" "00085" "{PMID:Constantinou et al., 1990:1977119} {PMID:Yoneyama et al., 2004:14739420} {PMID:Chan et al., 2008:18272325} {PMID:Bodian et al., 2009:18996919}" "" "" "" "" "" "0" "" "" "" "" "00323419" "" "" "" "1" "" "03867" "" "" "" "" "" "" "0" "" "" "European" "" "00323420" "" "" "" "1" "" "00085" "{dbSNP414408}" "" "" "" "" "" "0" "" "" "" "" "00323421" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323422" "" "" "" "1" "" "00085" "{PMID:Ho Duy et al., 2016:27519266}" "" "" "" "" "" "0" "" "" "Vietnamese" "" "00323423" "" "" "" "1" "" "00085" "{PMID:Kantaputra et al., 2018:29636545}" "The affected father and daughter are both described as having OI type IV in the Abstract, but OI type I in the Discussion.The technique used was whole exome sequencing." "" "" "" "" "0" "" "" "Thai" "" "00323424" "" "" "" "1" "" "00085" "{PMID:Lund et al., 1997:9240878}" "" "" "" "" "" "0" "" "" "" "" "00323425" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323426" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication" "The mutation is incorrectly listed in Marini et al., 2007 as the substitution of GA for GC. It is presumed that AG was intended, though AA would also yield a Glu in place of Gly." "" "" "" "" "0" "" "" "" "" "00323427" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Lund, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323428" "" "" "" "1" "" "00085" "{PMID:Stephen et al., 2014:24668929}" "Familial" "" "" "" "" "0" "" "" "" "" "00323429" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323430" "" "" "" "1" "" "00085" "{PMID:Styrkarsdottir et al., 2016:26235824}" "This variant was discovered in a GWA study at the hip and spine and there may be a founder effect in Iceland.The technique used was whole genome sequencing." "" "" "" "" "0" "" "" "Icelandic" "" "00323431" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Cohn, King and Krakow, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323432" "" "" "" "1" "" "00085" "{PMID:Chen et al., 2012:22795121}" "There is no supporting RNA analysis data to indicate whether or how the variant at the +11 position interferes with splicing." "" "" "" "" "0" "" "" "" "" "00323433" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Lund, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323434" "" "" "" "1" "" "03702" "Lund, personal communication" "" "" "" "" "" "0" "" "" "white" "" "00323435" "" "" "" "1" "" "00085" "{dbSNP433386}" "" "" "" "" "" "0" "" "" "" "" "00323436" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323437" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323438" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Mottes and Lievore, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323439" "" "" "" "1" "" "03855" "" "" "" "" "" "" "0" "" "" "" "" "00323440" "" "" "" "1" "" "03855" "" "" "" "" "" "" "0" "" "" "" "" "00323441" "" "" "" "1" "" "00085" "{PMID:Forlino et al., 1998:9923651}" "The patient also harbours the variant c.2123G>A (p.Arg708Gln) in cis on the mutant allele and inherited from the father." "" "" "" "" "0" "" "" "" "" "00323442" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323443" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323444" "" "" "" "1" "" "00085" "{PMID:Stephen et al., 2014:24668929}" "" "" "" "" "" "0" "" "" "" "" "00323445" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323446" "" "" "" "1" "" "00085" "{PMID:Sztrolovics et al., 1994:7520724}" "" "" "" "" "" "0" "" "" "" "" "00323447" "" "" "" "1" "" "03853" "" "" "" "" "" "" "0" "" "" "white" "" "00323448" "" "" "" "1" "" "03867" "{DOI:Majka et al., 2013:10.4236/ojgen.2013.31006}" "Thermal stability of the collagen triple helix is decreased by 2˚C" "" "" "" "" "0" "" "" "white" "" "00323449" "" "" "" "1" "" "00085" "{PMID:Zolezzi et al., 1997:9268111}" "Skips exon 26." "" "" "" "" "0" "" "" "" "" "00323450" "" "" "" "1" "" "03853" "" "This patient is described as Individual T8 by {PMID25086671:Rauch et al., 2014}." "" "" "" "" "0" "" "" "white" "" "00323451" "" "" "" "1" "" "03853" "" "" "" "" "" "" "0" "" "" "white" "" "00323452" "" "" "" "1" "" "00085" "{PMID:Zhang et al., 2011:21667357}" "" "" "" "" "" "0" "" "" "Han Chinese" "" "00323453" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323454" "" "" "" "1" "" "00085" "{PMID:Dawson et al., 1999:10027910}" "The technique used was ribonuclease A analysis (RNaseA)." "" "" "" "" "0" "" "" "" "" "00323455" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323456" "" "" "" "1" "" "00085" "{PMID:Ward et al., 2001:11317364}" "" "" "" "" "" "0" "" "" "" "" "00323457" "" "" "" "1" "" "03704" "{PMID:Bodian et al., 2009:18996919}" "" "" "" "" "" "0" "" "" "" "" "00323458" "" "" "" "1" "" "00085" "{PMID:Chan et al., 2008:18272325}" "" "" "" "" "" "0" "" "" "" "" "00323459" "" "" "" "1" "" "00085" "Mottes et al., 1996 {Localmottes_et_al_1996.pdf:View abstract} {dbSNP72658131}" "" "" "" "" "" "0" "" "" "" "" "00323460" "" "" "" "1" "" "03885" "{PMID:Bardai et al.,2016:27509835}" "The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "" "" "00323461" "" "" "" "1" "" "00085" "{PMID:Ward et al., 2001:11317364}" "" "" "" "" "" "0" "" "" "" "" "00323462" "" "" "" "1" "" "00085" "{PMID:Tromp and Prockop, 1988:2839839}" "This patient probably also harbours a mutation in the other COL1A2 allele creating a null allele.The technique used was S1 nuclease." "" "" "" "" "0" "" "" "" "" "00323463" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323464" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323465" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Lund, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323466" "" "" "" "1" "" "00085" "{PMID:Ho Duy et al., 2016:27519266}" "" "" "" "" "" "0" "" "" "Vietnamese" "" "00323467" "" "" "" "1" "" "03897" "{PMID:Zhytnik 2017:28810924}" "" "" "" "Estonia" "" "0" "" "" "" "EE01" "00323468" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "This patient is referred to as Family 16 in {PMID21239989:Pyott et al., 2011}." "" "" "" "" "0" "" "" "" "" "00323469" "" "" "" "1" "" "00085" "{PMID:Bateman et al., 1992:1284475}" "In addition to the disease-causing mutation, the patient also harbours the p.(Pro549Ala) variant on the same allele." "" "" "" "" "0" "" "" "" "" "00323470" "" "" "" "1" "" "00085" "{PMID:Bateman et al., 1992:1284475}, {PMID:Yoneyama et al., 2004:14739420}, {PMID:Chan et al., 2008:18272325}, {PMID:Bodian et al., 2009:18996919}" "This variant has been shown to be significantly associated with intracranial aneurysms in a cohort of 260 Japanese IA patients ({PMID:Yoneyama et al., 2004:14739420}). However, this association has been called into question by others ({PMID:Arnold et al., 2005:16192463})." "" "" "" "" "0" "" "" "" "" "00323471" "" "" "" "1" "" "00085" "{PMID:Lin et al., 2010:21488275}" "It has been confirmed with the author that the published account reports the variant using legacy amino acid numbering. In addition, codon 550 in the reference sequence is GGT, not GGC as reported." "" "" "" "" "0" "" "" "" "" "00323472" "" "" "" "1" "" "00085" "{PMID:Zhang et al., 2017:27748872}" "" "" "" "" "" "0" "" "" "Han Chinese" "" "00323473" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Steinmann and Giunta, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323474" "" "" "" "1" "" "00085" "{PMID:Stephen et al., 2014:24668929}" "" "" "" "" "" "0" "" "" "" "" "00323475" "" "" "" "1" "" "00085" "{PMID:Lin et al., 2015:26627451}" "" "" "" "" "" "0" "" "" "Taiwanese" "" "00323476" "" "" "" "1" "" "00085" "{PMID:Zhang et al., 2017:27748872}" "" "" "" "" "" "0" "" "" "Han Chinese" "" "00323477" "" "" "" "1" "" "03704" "{PMID:Edwards et al., 1992:1301191}" "This patient is referred to as Family 33 in {PMID21239989:Pyott et al., 2011}." "" "" "" "" "0" "" "" "" "" "00323478" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323479" "" "" "" "1" "" "03704" "{PMID:Bodian et al., 2009:18996919}" "" "" "" "" "" "0" "" "" "" "" "00323480" "" "" "" "1" "" "03855" "" "" "" "" "" "" "0" "" "" "" "" "00323481" "" "" "" "1" "" "00085" "{PMID:Chan et al., 2008:18272325}" "" "" "" "" "" "0" "" "" "" "" "00323482" "" "" "" "1" "" "03853" "" "" "" "" "" "" "0" "" "" "white" "" "00323483" "" "" "" "1" "" "03704" "{PMID:Bodian et al., 2009:18996919}" "Skips exon 29." "" "" "" "" "0" "" "" "" "" "00323484" "" "" "" "1" "" "03856" "" "" "" "" "" "" "0" "" "" "white" "" "00323485" "" "" "" "1" "" "03853" "" "" "" "" "" "" "0" "" "" "white" "" "00323486" "" "" "" "1" "" "03704" "{PMID:Bodian et al., 2009:18996919}" "Skips exon 30?" "" "" "" "" "0" "" "" "" "" "00323487" "" "" "" "1" "" "00085" "{PMID: van Dijk et al, 2011:22570641}" "" "" "" "" "" "0" "" "" "white" "" "00323488" "" "" "" "1" "" "03879" "{PMID:Lindahl et al., 2015:25944380}" "Two collagen I alterations were found in this patient with OI type III: c.3118G>A (p.(Gly1040Ser)) in COL1A1 only in the patient and c.1727A>G (p.(His576Arg)) in COL1A2 in both the patient and his non-affected mother." "" "" "" "" "0" "" "" "Swedish" "" "00323489" "" "" "" "1" "" "00085" "{PMID:Ho Duy et al., 2016:27519266}" "The technique used was the custom Gene panel The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "Vietnamese" "" "00323490" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323491" "" "" "" "1" "" "00085" "{PMID:Rauch et al., 2014:25086671}" "" "" "" "" "" "0" "" "" "" "" "00323492" "" "" "" "1" "" "00085" "Bateman et al., 1990 {Localbateman_et_al_1990.pdf:View abstract}" "" "" "" "" "" "0" "" "" "" "" "00323493" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "Skips exon 30." "" "" "" "" "0" "" "" "" "" "00323494" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323495" "" "" "" "1" "" "00085" "{PMID:Rose et al., 1994:7959683}" "" "" "" "" "" "0" "" "" "" "" "00323496" "" "" "" "1" "" "00085" "{PMID:Rose et al., 1994:7959683}" "" "" "" "" "" "0" "" "" "" "" "00323497" "" "" "" "1" "" "00085" "{PMID:Rose et al., 1994:7959683}" "" "" "" "" "" "0" "" "" "" "" "00323498" "" "" "" "1" "" "03888" "" "" "" "" "" "" "0" "" "" "" "" "00323499" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323500" "" "" "" "1" "" "00085" "{PMID:Hartikka et al., 2004:15241796}" "" "" "" "" "" "0" "" "" "" "" "00323501" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323502" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323503" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Marini and Moriarty, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323504" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Marini and Moriarty, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323505" "" "" "" "1" "" "00085" "{PMID:Ward et al., 2001:11317364}" "" "" "" "" "" "0" "" "" "" "" "00323506" "" "" "" "1" "" "00085" "{PMID:Lee et al., 2006:16705691}" "" "" "" "" "" "0" "" "" "" "" "00323507" "" "" "" "1" "" "03855" "" "" "" "" "" "" "0" "" "" "" "" "00323508" "" "" "" "1" "" "00085" "{PMID:Zhang et al., 2011:21667357}" "" "" "" "" "" "0" "" "" "Han Chinese" "" "00323509" "" "" "" "1" "" "00085" "{PMID:Rauch et al., 2014:25086671}" "" "" "" "" "" "0" "" "" "" "" "00323510" "" "" "" "1" "" "03879" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "" "" "0" "" "" "Swedish" "" "00323511" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323512" "" "" "" "1" "" "01819" "" "" "" "" "" "" "0" "" "" "" "" "00323513" "" "" "" "1" "" "03885" "{PMID:Bardai et al.,2016:27509835}" "" "" "" "" "" "0" "" "" "" "" "00323514" "" "" "" "1" "" "00085" "{PMID:Frederiksen et al., 2016:27761249}" "The variant at the end of exon 31 is predicted to eliminate the adjacent splice site.The proband\'s asymptomatic father is mosaic for the variant, thus explaining recurrence of OI in the family.The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "" "" "00323515" "" "" "" "1" "" "00085" "{PMID:Venturi et al., 2006:16879195}" "" "" "" "" "" "0" "" "" "" "" "00323516" "" "" "" "1" "" "00085" "{PMID:Barkova et al., 2014:24863959}" "" "" "" "" "" "0" "" "" "" "" "00323517" "" "" "" "1" "" "00085" "{PMID:Bateman et al., 1993:8456808} {PMID:Yoneyama et al., 2004:14739420} {PMID:Chan et al., 2008:18272325} {PMID:Bodian et al., 2009:18996919}" "This variant has been shown to be significantly associated with intracranial aneurysms in a cohort of 260 Japanese IA patients ({PMID:Yoneyama et al., 2004:14739420})." "" "" "" "" "0" "" "" "" "" "00323518" "" "" "" "1" "" "00085" "{PMID:Ward et al., 2001:11317364}" "" "" "" "" "" "0" "" "" "" "" "00323519" "" "" "" "1" "" "03885" "{PMID:Bardai et al.,2016:27509835}" "The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "" "" "00323520" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323521" "" "" "" "1" "" "03855" "" "" "" "" "" "" "0" "" "" "" "" "00323522" "" "" "" "1" "" "00085" "{PMID:Sztrolovics et al., 1993:8401517}" "" "" "" "" "" "0" "" "" "" "" "00323523" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323524" "" "" "" "1" "" "00085" "Bonadio et al., 1988 {Localbonadio_et_al_1988.pdf:View abstract}" "" "" "" "" "" "0" "" "" "" "" "00323525" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323526" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Cohn, King and Krakow, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323527" "" "" "" "1" "" "00085" "{PMID:Lin et al., 2010:21488249}" "It has been confirmed with the author that the published account reports the variant using legacy amino acid numbering." "" "" "" "" "0" "" "" "" "" "00323528" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Cohn, King and Krakow, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323529" "" "" "" "1" "" "03702" "Lund, personal communication" "The diagnosis of type II OI is not certain." "" "" "" "" "0" "" "" "white" "" "00323530" "" "" "" "1" "" "03879" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "" "" "0" "" "" "Swedish" "" "00323531" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323532" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323533" "" "" "" "1" "" "03895" "" "" "" "" "" "" "0" "" "" "Dutch" "" "00323534" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323535" "" "" "" "1" "" "00085" "{PMID:Ho Duy et al., 2016:27519266}" "" "" "" "" "" "0" "" "" "Vietnamese" "" "00323536" "" "" "" "1" "" "03704" "Kuslich and Byers, 2000 {OLDASHG00:1052:Abstract}" "The mutation creates an AT splice donor site that is spliced to a cryptic AC splice acceptor site resulting in the last 6 bases (TTACAG) of intron 32 being retained." "" "" "" "" "0" "" "" "" "" "00323537" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "Skips exon 32." "" "" "" "" "0" "" "" "" "" "00323538" "" "" "" "1" "" "03704" "{PMID:Pyott et al., 2011:21239989}" "There was one previously affected infant in this family with lethal OI in which prenatal diagnosis was done by mutation identification.The variant is incorrectly described as c.1971+1_+32del.The deletion leads to skipping of exon 32." "" "" "" "" "0" "" "" "" "" "00323539" "" "" "" "1" "" "03704" "{PMID:Raff et al., 2000:10982177}" "" "" "" "" "" "0" "" "" "" "" "00323540" "" "" "" "1" "" "00085" "{PMID:Mohd Nawawi et al., 2018:29807018}" "The technique used was the custom Gene panel" "" "" "" "" "0" "" "" "Malaysian" "" "00323541" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323542" "" "" "" "1" "" "00085" "{PMID:Ho Duy et al., 2016:27519266}" "The protein alteration is incorrectly described as p.Gly655Val." "" "" "" "" "0" "" "" "Vietnamese" "" "00323543" "" "" "" "1" "" "03853" "" "" "" "" "" "" "0" "" "" "white" "" "00323544" "" "" "" "1" "" "00085" "{PMID:Zhang et al., 2011:21667357}" "" "" "" "" "" "0" "" "" "Han Chinese" "" "00323545" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323546" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323547" "" "" "" "1" "" "03853" "" "" "" "" "" "" "0" "" "" "white" "" "00323549" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323550" "" "" "" "1" "" "00085" "{PMID:Ward et al., 2001:11317364}" "" "" "" "" "" "0" "" "" "" "" "00323551" "" "" "" "1" "" "00085" "{PMID:Mohd Nawawi et al., 2018:29807018}" "The technique used was the custom Gene panel" "" "" "" "" "0" "" "" "Malaysian" "" "00323552" "" "" "" "1" "" "01819" "{PMID:Essawi 2018:29150909}" "Two of the proband\'s daughters harbour the same mutation and present the phenotype." "" "" "Palestine" "" "0" "" "" "Palestinian" "AN_005812" "00323553" "" "" "" "1" "" "03865" "" "" "" "" "" "" "0" "" "" "" "" "00323554" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323555" "" "" "" "1" "" "00085" "{PMID:Niyibizi et al., 1992:1385413}" "" "" "" "" "" "0" "" "" "" "" "00323556" "" "" "" "1" "" "03853" "" "" "" "" "" "" "0" "" "" "" "" "00323557" "" "" "" "1" "" "00085" "{PMID:Lin et al., 2015:26627451}" "" "" "" "" "" "0" "" "" "Taiwanese" "" "00323558" "" "" "" "1" "" "00085" "{PMID:Wenstrup et al., 1993:8456807}" "A cryptic splice donor site in intron 33 is used in place of the mutated site resulting in 18 bases of intron 33 being retained which are translated into 6 extra amino acids (VGRILF)." "" "" "" "" "0" "" "" "" "" "00323559" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323560" "" "" "" "1" "" "00085" "{PMID:Ganguly et al., 1991:1711048}" "Skips exon 33." "" "" "" "" "0" "" "" "" "" "00323561" "" "" "" "1" "" "03704" "{PMID:Willing et al., 1988:3372533}" "" "" "" "" "" "0" "" "" "" "" "00323562" "" "" "" "1" "" "03897" "{PMID:Zhytnik 2017:28810924}" "" "" "" "Estonia" "" "0" "" "" "" "EE30" "00323563" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323564" "" "" "" "1" "" "03897" "{PMID:Zhytnik 2019:31447884}" "" "" "" "Ukraine" "" "0" "" "" "" "UA92" "00323565" "" "" "" "1" "" "00085" "{PMID:Ward et al., 2001:11317364}" "" "" "" "" "" "0" "" "" "" "" "00323566" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323567" "" "" "" "1" "" "00085" "{PMID:Lee et al., 2006:16705691}" "" "" "" "" "" "0" "" "" "" "" "00323568" "" "" "" "1" "" "03879" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "" "" "0" "" "" "" "" "00323569" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323570" "" "" "" "1" "" "00085" "{PMID:Trancozo et al., 2019:31429852}" "" "" "" "" "" "0" "" "" "Brazilian" "" "00323571" "" "" "" "1" "" "03897" "{PMID:Zhytnik 2019:31447884}" "" "" "" "Ukraine" "" "0" "" "" "" "UA83" "00323572" "" "" "" "1" "" "00085" "{PMID:Bateman et al., 1991:2064612}" "" "" "" "" "" "0" "" "" "" "" "00323573" "" "" "" "1" "" "00085" "{PMID:Forlino et al., 1994:7881420}" "" "" "" "" "" "0" "" "" "" "" "00323574" "" "" "" "1" "" "03704" "{PMID:Pace et al., 2001:11668615}" "This patient may harbour a SNP at position c.2033 yielding His instead of Pro at amino acid position 588. The reference protein sequence has Pro at this position." "" "" "" "" "0" "" "" "" "" "00323575" "" "" "" "1" "" "00085" "{dbSNP409108}" "" "" "" "" "" "0" "" "" "" "" "00323576" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323577" "" "" "" "1" "" "03897" "{PMID:Zhytnik 2019:31447884}" "" "" "" "Ukraine" "" "0" "" "" "" "UA86" "00323578" "" "" "" "1" "" "00085" "{PMID:Árvai et al., 2016:27335225}" "The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "white" "" "00323579" "" "" "" "1" "" "00085" "{dbSNP34147460}" "" "" "" "" "" "0" "" "" "" "" "00323580" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323581" "" "" "" "1" "" "00085" "{PMID:Zhang et al., 2017:27748872}" "" "" "" "" "" "0" "" "" "Han Chinese" "" "00323582" "" "" "" "1" "" "00085" "{PMID:Zhang et al., 2017:27748872}" "" "" "" "" "" "0" "" "" "Han Chinese" "" "00323583" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323584" "" "" "" "1" "" "03853" "" "" "" "" "" "" "0" "" "" "white" "" "00323585" "" "" "" "1" "" "00085" "McBride et al., 1999 {Localmcbride_et_al_1999.pdf:View abstract}" "More information about variation of the phenotype within the family and the creation of a knock-in mouse is presented by {PMID:Daley et al., 2010:19594296}." "" "" "" "" "0" "" "" "Amish" "" "00323586" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323587" "" "" "" "1" "" "01819" "" "" "" "" "" "" "0" "" "" "" "" "00323588" "" "" "" "1" "" "00085" "{PMID:Styrkarsdottir et al., 2016:26235824}" "This variant was discovered in a GWA study at the hip and spine and there may be a founder effect in Iceland.The technique used was whole genome sequencing." "" "" "" "" "0" "" "" "Icelandic" "" "00323589" "" "" "" "1" "" "03865" "" "" "" "" "" "" "0" "" "" "" "" "00323590" "" "" "" "1" "" "03889" "" "Amplification using captured base method. Amplified products sequenced using Illumina HiSeq 2000 platform. Mother and child both have a clinical diagnosis of severe type III OI." "" "" "" "" "0" "" "" "white" "" "00323591" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323592" "" "" "" "1" "" "03704" "{PMID:Pace et al., 2001:11668615}" "" "" "" "" "" "0" "" "" "" "" "00323593" "" "" "" "1" "" "03704" "{PMID:Bodian et al., 2009:18996919}" "" "" "" "" "" "0" "" "" "" "" "00323594" "" "" "" "1" "" "03855" "" "" "" "" "" "" "0" "" "" "" "" "00323595" "" "" "" "1" "" "00085" "{PMID:Phillips et al., 1990:1978725}" "The p.Arg708Gln variant found in this patient is now thought to be a normal variant in the population with a frequency of around 0.1%. It is suggested by {PMID:Voumund et al., 2004:15172002} that it may have a modifying role in the pathogenesis of connective tissue disorders." "" "" "" "" "0" "" "" "" "" "00323596" "" "" "" "1" "" "00085" "{PMID:Taillandier et al., 2015:26432670}" "There was a suspicion of hypophosphatasia in this 88 yo patient with atypical femoral fractures.This patient was subsequently described as patient P1 by {PMID28017821:Funck-Brentano et al., 2016}.The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "" "" "00323597" "" "" "" "1" "" "03855" "" "" "" "" "" "" "0" "" "" "" "" "00323598" "" "" "" "1" "" "03704" "{PMID:Pyott et al., 2011:21239989}" "" "" "" "" "" "0" "" "" "" "" "00323599" "" "" "" "1" "" "00085" "{PMID:Lee et al., 2006:16705691}" "" "" "" "" "" "0" "" "" "" "" "00323600" "" "" "" "1" "" "03855" "" "" "" "" "" "" "0" "" "" "" "" "00323601" "" "" "" "1" "" "01819" "" "The patient harbours two substitutions in the same splice donor site. Neither variant is present in the parents, hence the variants are probably allelic in the patient." "" "" "" "" "0" "" "" "" "" "00323602" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323603" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323604" "" "" "" "1" "" "00085" "{PMID:Lund et al., 1997:9240878}" "" "" "" "" "" "0" "" "" "" "" "00323605" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Nuytinck and De Paepe, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323606" "" "" "" "1" "" "03855" "" "" "" "" "" "" "0" "" "" "" "" "00323607" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323608" "" "" "" "1" "" "03853" "" "" "" "" "" "" "0" "" "" "" "" "00323609" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Nuytinck and De Paepe, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323610" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "This patient is referred to as Family 34 in {PMID21239989:Pyott et al., 2011}." "" "" "" "" "0" "" "" "" "" "00323611" "" "" "" "1" "" "00085" "{dbSNP407577}" "" "" "" "" "" "0" "" "" "" "" "00323612" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323613" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323614" "" "" "" "1" "" "03702" "" "" "" "" "" "" "0" "" "" "white" "" "00323615" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323616" "" "" "" "1" "" "00085" "{dbSNP407599}" "" "" "" "" "" "0" "" "" "" "" "00323617" "" "" "" "1" "" "00085" "{PMID:Rolvien et al., 2018:29946973}" "The DNA-level variant data and OI phenotype were provided by Dr Tim Rolvien." "" "" "" "" "0" "" "" "" "" "00323618" "" "" "" "1" "" "03855" "" "Patient is homozygous for the change. Both parents are heterozygous and have very mild OI I. The effect on splicing is predicted using Alamut. It\'s probable that some transcipts are correctly spliced and others are not." "" "" "" "" "0" "" "" "" "" "00323619" "" "" "" "1" "" "00085" "{dbSNP407620}" "" "" "" "" "" "0" "" "" "" "" "00323620" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "Skips exon 36." "" "" "" "" "0" "" "" "" "" "00323621" "" "" "" "1" "" "00085" "{PMID:Lee et al., 2006:16705691}" "" "" "" "" "" "0" "" "" "" "" "00323622" "" "" "" "1" "" "03879" "{PMID:Lindahl et al., 2015:25944380}" "There is no convincing evidence that either of the patient\'s variants should be regarded as OI-causing." "" "" "" "" "0" "" "" "Swedish" "" "00323623" "" "" "" "1" "" "00085" "{PMID:Hachiya et al., 2012:22911485}" "The patient is described as having OI type II but this is a non lethal case that might be better described as OI type II/III." "" "" "" "" "0" "" "" "" "" "00323624" "" "" "" "1" "" "03879" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "" "" "0" "" "" "Swedish" "" "00323625" "" "" "" "1" "" "00085" "{PMID:Gomez-Lira et al., 1994:7891382}" "" "" "" "" "" "0" "" "" "" "" "00323626" "" "" "" "1" "" "00085" "{PMID:Pollitt et al., 2006:16786509}" "" "" "" "" "" "0" "" "" "" "" "00323627" "" "" "" "1" "" "01819" "" "" "" "" "" "" "0" "" "" "" "" "00323628" "" "" "" "1" "" "00085" "{PMID:Chen et al., 2012:22795107}" "There is a family history of OI IV and the proband has an affected son harbouring the same variant." "" "" "" "" "0" "" "" "" "" "00323629" "" "" "" "1" "" "00085" "{PMID:Lin et al., 2015:26627451}" "" "" "" "" "" "0" "" "" "Taiwanese" "" "00323630" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323631" "" "" "" "1" "" "00085" "{PMID:Rauch et al., 2014:25086671}" "" "" "" "" "" "0" "" "" "" "" "00323632" "" "" "" "1" "" "00085" "{dbSNP407903}" "" "" "" "" "" "0" "" "" "" "" "00323633" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323634" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323635" "" "" "" "1" "" "03704" "{PMID:Wenstrup et al., 1991:1990009}" "" "" "" "" "" "0" "" "" "" "" "00323636" "" "" "" "1" "" "00085" "{PMID:Wenstrup et al., 1993:8456807}" "" "" "" "" "" "0" "" "" "" "" "00323637" "" "" "" "1" "" "00085" "{PMID:Wenstrup et al., 1993:8456807}" "" "" "" "" "" "0" "" "" "" "" "00323638" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Marini, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323639" "" "" "" "1" "" "03704" "{PMID:Bodian et al., 2009:18996919}" "Lower extremeties like OI type II, but ribs less involved." "" "" "" "" "0" "" "" "" "" "00323640" "" "" "" "1" "" "01819" "" "" "" "" "" "" "0" "" "" "" "" "00323641" "" "" "" "1" "" "03897" "{PMID:Zhytnik 2019:31447884}" "" "" "" "Ukraine" "" "0" "" "" "" "UA102" "00323642" "" "" "" "1" "" "00085" "{dbSNP408535}" "" "" "" "" "" "0" "" "" "" "" "00323643" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323644" "" "" "" "1" "" "03853" "" "" "" "" "" "" "0" "" "" "Chinese" "" "00323645" "" "" "" "1" "" "03897" "{PMID:Zhytnik 2019:31447884}" "" "" "" "Ukraine" "" "0" "" "" "" "UA37" "00323646" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323647" "" "" "" "1" "" "03704" "{PMID:Pyott et al., 2011:21239989}" "" "" "" "" "" "0" "" "" "" "" "00323648" "" "" "" "1" "" "00085" "{PMID:Stephen et al., 2014:24668929}" "" "" "" "" "" "0" "" "" "" "" "00323649" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323650" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323651" "" "" "" "1" "" "03704" "{PMID:Bodian et al., 2009:18996919}" "" "" "" "" "" "0" "" "" "" "" "00323652" "" "" "" "1" "" "00085" "{PMID:Spotila et al., 1991:2052622}" "" "" "" "" "" "0" "" "" "" "" "00323653" "" "" "" "1" "" "00085" "{PMID:Stephen et al., 2014:24668929}" "" "" "" "" "" "0" "" "" "" "" "00323654" "" "" "" "1" "" "03885" "{PMID:Bardai et al.,2016:27509835}" "" "" "" "" "" "0" "" "" "" "" "00323655" "" "" "" "1" "" "00085" "{PMID:Venturi et al., 2006:16879195}" "" "" "" "" "" "0" "" "" "" "" "00323656" "" "" "" "1" "" "00085" "{PMID:Ho Duy et al., 2016:27519266}" "" "" "" "" "" "0" "" "" "Vietnamese" "" "00323657" "" "" "" "1" "" "03879" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "" "" "0" "" "" "Swedish" "" "00323658" "" "" "" "1" "" "03879" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "" "" "0" "" "" "" "" "00323659" "" "" "" "1" "" "03885" "{PMID:Bardai et al.,2016:27509835}" "" "" "" "" "" "0" "" "" "" "" "00323660" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Cohn, King and Krakow, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323661" "" "" "" "1" "" "00475" "" "" "" "" "" "" "0" "" "" "white" "" "00323662" "" "" "" "1" "" "00085" "{PMID:Chen et al., 2013:23548243}" "There is a family history of OI IV." "" "" "" "" "0" "" "" "Chinese" "" "00323663" "" "" "" "1" "" "00085" "{PMID:Lin et al., 2015:26627451}" "" "" "" "" "" "0" "" "" "Taiwanese" "" "00323664" "" "" "" "1" "" "00085" "{PMID:Lin et al., 2010:21488294}" "It has been confirmed with the author that the published account reports the variant using legacy amino acid numbering." "" "" "" "" "0" "" "" "" "" "00323665" "" "" "" "1" "" "00085" "{PMID:Lin et al., 2015:26627451}" "" "" "" "" "" "0" "" "" "Taiwanese" "" "00323666" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323667" "" "" "" "1" "" "00085" "{PMID:Lund et al., 1997:9240878}" "" "" "" "" "" "0" "" "" "" "" "00323668" "" "" "" "1" "" "03897" "{PMID:Zhytnik 2019:31447884}" "" "" "" "Ukraine" "" "0" "" "" "" "UA74" "00323669" "" "" "" "1" "" "03855" "" "" "" "" "" "" "0" "" "" "" "" "00323670" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "Skips exon 37." "" "" "" "" "0" "" "" "" "" "00323671" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "Skips exon 38 + cryptic site?" "" "" "" "" "0" "" "" "" "" "00323672" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323673" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323674" "" "" "" "1" "" "03885" "{PMID:Bardai et al.,2016:27509835}" "" "" "" "" "" "0" "" "" "" "" "00323675" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Marini, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323676" "" "" "" "1" "" "00085" "{PMID:Wang et al., 1993:7693712}" "The technique used was ribonuclease A analysis (RNaseA)." "" "" "" "" "0" "" "" "" "" "00323677" "" "" "" "1" "" "03865" "" "" "" "" "" "" "0" "" "" "" "" "00323678" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323679" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323680" "" "" "" "1" "" "03853" "" "" "" "" "" "" "0" "" "" "white" "" "00323681" "" "" "" "1" "" "03872" "" "" "" "" "" "" "0" "" "" "Han Chinese" "" "00323682" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323683" "" "" "" "1" "" "01819" "" "" "" "" "" "" "0" "" "" "" "" "00323684" "" "" "" "1" "" "03865" "" "" "" "" "" "" "0" "" "" "" "" "00323685" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Lund, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323686" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323687" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323688" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323689" "" "" "" "1" "" "00085" "{PMID:Nuytinck et al., 1997:9272740}" "" "" "" "" "" "0" "" "" "" "" "00323690" "" "" "" "1" "" "03702" "" "" "" "" "" "" "0" "" "" "white" "" "00323691" "" "" "" "1" "" "03855" "{PMID:Balasubramanian et al., 2015:25436829}" "This patient was first presented as patient 3 by {PMID25436829:Balasubramanian et al., 2015} and subsequently as Patient 1 by {PMID26471105:Balasubramanian et al., 2015}.The patient also harbours a 4.3 Mb duplication of chromosome 19q13.42q13.43, involving basepairs 54,722,863–59,081,378 (genome assembly hg19)" "" "" "" "" "0" "" "" "" "" "00323692" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323693" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323694" "" "" "" "1" "" "03865" "" "" "" "" "" "" "0" "" "" "" "" "00323695" "" "" "" "1" "" "00085" "{PMID:Lu et al., 2013:23934635}" "This patient has osteogenesis imperfecta combined with complete tooth loss." "" "" "" "" "0" "" "" "" "" "00323696" "" "" "" "1" "" "03865" "" "" "" "" "" "" "0" "" "" "" "" "00323697" "" "" "" "1" "" "03865" "" "" "" "" "" "" "0" "" "" "" "" "00323698" "" "" "" "1" "" "03865" "" "" "" "" "" "" "0" "" "" "" "" "00323699" "" "" "" "1" "" "03871" "" "" "" "" "" "" "0" "" "" "" "" "00323700" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323701" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323702" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323703" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323704" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323705" "" "" "" "1" "" "00085" "{PMID:Rolvien et al., 2018:29946973}" "The DNA-level variant data and OI phenotype were provided by Dr Tim Rolvien." "" "" "" "" "0" "" "" "" "" "00323706" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323707" "" "" "" "1" "" "00085" "{PMID29499418 : Mrosk et al., 2018}" "The patient had an affected sister with the same variant. The variant was absent in the father, while the data for the patient\'s mother was not available." "" "" "" "" "0" "" "" "Indian" "" "00323708" "" "" "" "1" "" "00085" "{PMID:Trancozo et al., 2019:31429852}" "" "" "" "" "" "0" "" "" "Brazilian" "" "00323709" "" "" "" "1" "" "00085" "{PMID:Trancozo et al., 2019:31429852}" "" "" "" "" "" "0" "" "" "Brazilian" "" "00323710" "" "" "" "1" "" "03897" "{PMID:Zhytnik 2019:31447884}" "" "" "" "Ukraine" "" "0" "" "" "" "UA47" "00323711" "" "" "" "1" "" "03865" "" "" "" "" "" "" "0" "" "" "" "" "00323712" "" "" "" "1" "" "03702" "" "" "" "" "" "" "0" "" "" "white" "" "00323713" "" "" "" "1" "" "03872" "" "" "" "" "" "" "0" "" "" "Chinese Han" "" "00323714" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323715" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323716" "" "" "" "1" "" "03872" "" "" "" "" "" "" "0" "" "" "Chinese Han" "" "00323717" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323718" "" "" "" "1" "" "03897" "{PMID:Zhytnik 2017:28810924}" "" "" "" "Estonia" "" "0" "" "" "" "EE16" "00323719" "" "" "" "1" "" "03897" "{PMID:Zhytnik 2019:31447884}" "" "" "" "Ukraine" "" "0" "" "" "" "UA69" "00323720" "" "" "" "1" "" "00085" "{PMID:Ragunath et al., 1993:7720740}" "" "" "" "" "" "0" "" "" "" "" "00323721" "" "" "" "1" "" "00085" "{PMID:Zhang et al., 2011:21667357}" "" "" "" "" "" "0" "" "" "Han Chinese" "" "00323722" "" "" "" "1" "" "00085" "{PMID:Wang et al., 2015:25742658} {PMID:Wang et al., 2015:25933069}" "" "" "" "" "" "0" "" "" "Chinese" "" "00323723" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323724" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323725" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323726" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323727" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323728" "" "" "" "1" "" "00085" "{PMID:Tsuneyoshi et al., 1991:1874719}" "" "" "" "" "" "0" "" "" "" "" "00323729" "" "" "" "1" "" "00085" "{PMID:Mottes et al., 1998:10627137}" "The technique used was ribonuclease A analysis (RNaseA)." "" "" "" "" "0" "" "" "" "" "00323730" "" "" "" "1" "" "03704" "{PMID:Pyott et al., 2011:21239989}" "" "" "" "" "" "0" "" "" "" "" "00323731" "" "" "" "1" "" "00085" "{PMID:Cohen-Solal et al., 1994:8182080}" "" "" "" "" "" "0" "" "" "" "" "00323732" "" "" "" "1" "" "03704" "{PMID:Bodian et al., 2009:18996919}" "" "" "" "" "" "0" "" "" "" "" "00323733" "" "" "" "1" "" "03853" "" "" "" "" "" "" "0" "" "" "white" "" "00323734" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Marini and Cabral, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323735" "" "" "" "1" "" "00085" "{PMID:Hartikka et al., 2004:15241796}" "" "" "" "" "" "0" "" "" "Finnish" "" "00323736" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Marini, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323737" "" "" "" "1" "" "00085" "{PMID:Wang et al., 1993:7693712}" "Proband 1 in this study is one of identical twins with type II and surviving type II/III OI.The technique used was ribonuclease A analysis (RNaseA)." "" "" "" "" "0" "" "" "" "" "00323738" "" "" "" "1" "" "00085" "{PMID:Kataoka et al., 2007:17875077}" "" "" "" "" "" "0" "" "" "" "" "00323739" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323740" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323741" "" "" "" "1" "" "03704" "{PMID:Bodian et al., 2009:18996919}" "" "" "" "" "" "0" "" "" "" "" "00323742" "" "" "" "1" "" "03853" "" "" "" "" "" "" "0" "" "" "white" "" "00323743" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323744" "" "" "" "1" "" "03855" "" "Patient also has 2405G>T in COL1A2" "" "" "" "" "0" "" "" "" "" "00323745" "" "" "" "1" "" "01819" "" "" "" "" "" "" "0" "" "" "" "" "00323746" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323747" "" "" "" "1" "" "00085" "" "Imported from Cafe Variome (source:dmudb). DMuDB variants have been identified by clinical tests. Further information on variants is available in the DMuDB database. Access to these data requires the permission of the data owners. Please contact DMuDB (support@dmudb.net) for further details." "" "" "" "" "0" "" "" "" "" "00323748" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323749" "" "" "" "1" "" "03704" "{PMID:Bodian et al., 2009:18996919}" "" "" "" "" "" "0" "" "" "" "" "00323750" "" "" "" "1" "" "00085" "{PMID:Lee et al., 2006:16705691}" "" "" "" "" "" "0" "" "" "" "" "00323751" "" "" "" "1" "" "00085" "{PMID:Fuccio et al., 2011:21884818}" "The intron 42 variant is incorrectly described as c.3046-4_3046-5dupCT. This variant has been shown not disrupt splicing and is presumed not to be pathogenic. For this reason, the p.(Pro810Ser) variant is presumed to be disease causing and because it\'s a highly conserved amino acid." "" "" "" "" "0" "" "" "" "" "00323752" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323753" "" "" "" "1" "" "00085" "Hrušková et al., 2015. Adv Genomics Genet 5:275-281" "" "" "" "" "" "0" "" "" "Czech" "" "00323754" "" "" "" "1" "" "03855" "" "" "" "" "" "" "0" "" "" "" "" "00323755" "" "" "" "1" "" "00085" "{PMID:Zhang et al., 2017:27748872}" "" "" "" "" "" "0" "" "" "Han Chinese" "" "00323756" "" "" "" "1" "" "00085" "{PMID:Zhang et al., 2011:21667357}" "" "" "" "" "" "0" "" "" "Han Chinese" "" "00323757" "" "" "" "1" "" "03879" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "" "" "0" "" "" "Swedish" "" "00323758" "" "" "" "1" "" "00085" "{PMID:Lee et al., 2006:16705691}" "" "" "" "" "" "0" "" "" "" "" "00323759" "" "" "" "1" "" "00085" "{PMID:Trancozo et al., 2019:31429852}" "" "" "" "" "" "0" "" "" "Brazilian" "" "00323760" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323761" "" "" "" "1" "" "00085" "{PMID:Wang et al., 2015:25742658} {PMID:Wang et al., 2015:25933069}" "" "" "" "" "" "0" "" "" "Chinese" "" "00323762" "" "" "" "1" "" "00085" "{PMID:Lin et al., 2010:21488276}" "It has been confirmed with the author that the published account reports the variant using legacy amino acid numbering." "" "" "" "" "0" "" "" "" "" "00323763" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323764" "" "" "" "1" "" "03865" "" "" "" "" "" "" "0" "" "" "" "" "00323765" "" "" "" "1" "" "03855" "" "" "" "" "" "" "0" "" "" "" "" "00323766" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323767" "" "" "" "1" "" "00085" "{PMID:Zhuang et al., 1996:8829649}" "The patient is listed in Table 4 as having OI I(?) and is described in the Clinical Surveys section as ... diagnosed as having OI tarda." "" "" "" "" "0" "" "" "" "" "00323768" "" "" "" "1" "" "00085" "{PMID:Venturi et al., 2006:16879195}" "" "" "" "" "" "0" "" "" "" "" "00323769" "" "" "" "1" "" "01819" "" "" "" "" "" "" "0" "" "" "" "" "00323770" "" "" "" "1" "" "00085" "{PMID:Kaneto et al., 2014:24767406}" "" "" "" "" "" "0" "" "" "" "" "00323771" "" "" "" "1" "" "00085" "{PMID:Ho Duy et al., 2016:27519266}" "" "" "" "" "" "0" "" "" "Vietnamese" "" "00323772" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323773" "" "" "" "1" "" "00085" "{PMID:De Paepe et al., 1997:9099837}" "The probands VD and SD are sibs and are homozygous for the mutation. Their parents, who are first cousins, and two older sibs are heterozygous and present mild clinical features of OI." "" "" "" "" "0" "" "" "" "" "00323774" "" "" "" "1" "" "01819" "" "" "" "" "" "" "0" "" "" "" "" "00323775" "" "" "" "1" "" "00085" "{PMID:Chan et al., 2008:18272325}" "This SNP is incorrectly described as being at amino acid position 850 in Chan et al., 2008." "" "" "" "" "0" "" "" "" "" "00323776" "" "" "" "1" "" "00085" "{PMID:Lin et al., 2015:26627451}" "" "" "" "" "" "0" "" "" "Taiwanese" "" "00323777" "" "" "" "1" "" "00085" "{PMID:Ho Duy et al., 2016:27519266}" "" "" "" "" "" "0" "" "" "Vietnamese" "" "00323778" "" "" "" "1" "" "03855" "" "" "" "" "" "" "0" "" "" "" "" "00323779" "" "" "" "1" "" "01819" "" "" "" "" "" "" "0" "" "" "" "" "00323780" "" "" "" "1" "" "03865" "" "" "" "" "" "" "0" "" "" "" "" "00323781" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323782" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323783" "" "" "" "1" "" "00085" "{PMID:Lin et al., 2010:21488231}" "It has been confirmed with the author that the published account reports the variant using legacy amino acid numbering." "" "" "" "" "0" "" "" "" "" "00323784" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323785" "" "" "" "1" "" "00085" "{PMID:Lee et al., 2006:16705691}" "" "" "" "" "" "0" "" "" "" "" "00323786" "" "" "" "1" "" "03855" "" "" "" "" "" "" "0" "" "" "" "" "00323787" "" "" "" "1" "" "03879" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "" "" "0" "" "" "Swedish" "" "00323788" "" "" "" "1" "" "00085" "{PMID29499418 : Mrosk et al., 2018}" "" "" "" "" "" "0" "" "" "Indian" "" "00323789" "" "" "" "1" "" "00085" "{PMID:Trancozo et al., 2019:31429852}" "" "" "" "" "" "0" "" "" "Brazilian" "" "00323790" "" "" "" "1" "" "03865" "" "" "" "" "" "" "0" "" "" "" "" "00323791" "" "" "" "1" "" "00475" "" "" "" "" "" "" "0" "" "" "white" "" "00323792" "" "" "" "1" "" "00085" "{PMID:Ward et al., 2001:11317364}" "The mutation results in the use of a cryptic splice site in exon 44 resulting in the loss of 66 nt and deletion of 22 amino acids (p.Val834_Ala855del)." "" "" "" "" "0" "" "" "" "" "00323793" "" "" "" "1" "" "03704" "{PMID:Bodian et al., 2009:18996919}" "" "" "" "" "" "0" "" "" "" "" "00323794" "" "" "" "1" "" "03865" "" "" "" "" "" "" "0" "" "" "" "" "00323795" "" "" "" "1" "" "00085" "{PMID:Ho Duy et al., 2016:27519266}" "" "" "" "" "" "0" "" "" "Vietnamese" "" "00323796" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323797" "" "" "" "1" "" "00085" "{PMID:Wang et al., 2019:30984112}" "The authors reported the case in which identical twins harbored a heterozygous mutation in COL1A1 and COL1A2. However, the proband also showed co-occurrence of PSIS, while his older twin did not. The authors suggest that the proband had either a non-identified mutation or an epigenetic change." "" "" "" "" "0" "" "" "" "" "00323798" "" "" "" "1" "" "00085" "{PMID:Wang et al., 2019:30984112}" "" "" "" "" "" "0" "" "" "" "" "00323799" "" "" "" "1" "" "00085" "{PMID:Hartikka et al., 2004:15241796}" "" "" "" "" "" "0" "" "" "" "" "00323800" "" "" "" "1" "" "00085" "{PMID:Barkova et al., 2014:24863959}" "" "" "" "" "" "0" "" "" "" "" "00323801" "" "" "" "1" "" "03870" "{PMID:Gentile et al., 2013:22753364}" "The variant in this patient is incorrectly described by the authors as resulting in a frameshift." "" "" "" "" "0" "" "" "" "" "00323802" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323803" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323804" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323805" "" "" "" "1" "" "00085" "{PMID:Fertala et al., 1993:8424758}" "" "" "" "" "" "0" "" "" "" "" "00323806" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323807" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323808" "" "" "" "1" "" "03855" "" "" "" "" "" "" "0" "" "" "" "" "00323811" "" "" "" "1" "" "01819" "" "" "" "" "" "" "0" "" "" "" "" "00323812" "" "" "" "1" "" "03855" "" "Complete sequencing of COL1A1 and COL1A2, no other changes found." "" "" "" "" "0" "" "" "" "" "00323813" "" "" "" "1" "" "03704" "{PMID:Bodian et al., 2009:18996919}" "Skips exon 41." "" "" "" "" "0" "" "" "" "" "00323814" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "Skips exon 42." "" "" "" "" "0" "" "" "" "" "00323815" "" "" "" "1" "" "00085" "{PMID:Lund et al., 1996:8800927}" "" "" "" "" "" "0" "" "" "" "" "00323816" "" "" "" "1" "" "00085" "{PMID:Grange et al., 1990:1696002}" "The technique used was ribonuclease A analysis (RNaseA)." "" "" "" "" "0" "" "" "" "" "00323817" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323818" "" "" "" "1" "" "00085" "{PMID:Nuytinck et al., 1997:9272740}" "" "" "" "" "" "0" "" "" "" "" "00323819" "" "" "" "1" "" "03704" "{PMID:Pyott et al., 2011:21239989}" "" "" "" "" "" "0" "" "" "" "" "00323820" "" "" "" "1" "" "00085" "{PMID:Hartikka et al., 2004:15241796}" "" "" "" "" "" "0" "" "" "" "" "00323821" "" "" "" "1" "" "03704" "{PMID:Pace et al., 2001:11668615}" "" "" "" "" "" "0" "" "" "" "" "00323822" "" "" "" "1" "" "00085" "{PMID:Wu et al., 2014:25289482}" "This variant has been seen at low frequency in the ESP sequencing cohort (2/8600) so is probably not disease-causing." "" "" "" "" "0" "" "" "" "" "00323823" "" "" "" "1" "" "03855" "" "Complete sequencing of COL1A1 and COL1A2, no other changes found." "" "" "" "" "0" "" "" "" "" "00323824" "" "" "" "1" "" "03891" "" "" "" "" "" "" "0" "" "" "" "" "00323825" "" "" "" "1" "" "00085" "{PMID:Yuan et al., 2015:25835785}" "The technique used was whole exome sequencing." "" "" "" "" "0" "" "" "" "" "00323826" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Lund, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323827" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323828" "" "" "" "1" "" "00085" "{PMID:Barkova et al., 2014:24863959}" "" "" "" "" "" "0" "" "" "" "" "00323829" "" "" "" "1" "" "03872" "" "" "" "" "" "" "0" "" "" "Chinese Han" "" "00323830" "" "" "" "1" "" "00085" "{PMID:Barkova et al., 2014:24863959}" "" "" "" "" "" "0" "" "" "" "" "00323831" "" "" "" "1" "" "00085" "{PMID:Zhang et al., 2017:27748872}" "" "" "" "" "" "0" "" "" "Han Chinese" "" "00323832" "" "" "" "1" "" "03872" "" "" "" "" "" "" "0" "" "" "Chinese Han" "" "00323833" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323834" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323835" "" "" "" "1" "" "00085" "{PMID: Mrosk et al., 2018:29499418}" "" "" "" "" "" "0" "" "" "Indian" "" "00323836" "" "" "" "1" "" "00085" "{PMID:Ho Duy et al., 2016:27519266}" "" "" "" "" "" "0" "" "" "Vietnamese" "" "00323837" "" "" "" "1" "" "00085" "{PMID:Ho Duy et al., 2016:27519266}" "" "" "" "" "" "0" "" "" "v" "" "00323838" "" "" "" "1" "" "03861" "" "" "" "" "" "" "0" "" "" "" "" "00323839" "" "" "" "1" "" "00085" "{PMID:Chen et al., 2006:16470573}" "It has been confirmed with a colleague of the authors that the published account reports the variant using legacy amino acid numbering. This patient has been published a second time with the identifier HM090041 by {PMID21488295:Lin et al., 2010}." "" "" "" "" "0" "" "" "" "" "00323840" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323841" "" "" "" "1" "" "03885" "{PMID:Bardai et al.,2016:27509835}" "" "" "" "" "" "0" "" "" "" "" "00323842" "" "" "" "1" "" "01819" "" "" "" "" "" "" "0" "" "" "" "" "00323843" "" "" "" "1" "" "03853" "" "" "" "" "" "" "0" "" "" "African American" "" "00323844" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323845" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)" "Skips exon 43." "" "" "" "" "0" "" "" "" "" "00323846" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Cohn, King and Krakow, personal communication)" "Skips exon 43." "" "" "" "" "0" "" "" "" "" "00323847" "" "" "" "1" "" "00085" "{PMID:Hartikka et al., 2004:15241796}" "" "" "" "" "" "0" "" "" "" "" "00323848" "" "" "" "1" "" "03879" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "" "" "0" "" "" "Swedish" "" "00323849" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323850" "" "" "" "1" "" "00085" "{PMID:Chandler et al., 2018:29595812}" "The technique used was the custom NGS Exome panel" "" "" "" "" "0" "" "" "" "" "00323851" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323852" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323853" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323854" "" "" "" "1" "" "03885" "{PMID:Bardai et al.,2016:27509835}" "" "" "" "" "" "0" "" "" "" "" "00323855" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Lund, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323856" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Mottes and Lievore, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323857" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Cohn, King and Krakow, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323858" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323859" "" "" "" "1" "" "00085" "{PMID:Rose et al., 1994:8081394}" "" "" "" "" "" "0" "" "" "" "" "00323860" "" "" "" "1" "" "00085" "{PMID:Rose et al., 1994:8081394}" "" "" "" "" "" "0" "" "" "" "" "00323861" "" "" "" "1" "" "00085" "{PMID:Nuytinck et al., 1997:9272740}" "" "" "" "" "" "0" "" "" "" "" "00323862" "" "" "" "1" "" "03702" "Lund, personal communication" "" "" "" "" "" "0" "" "" "white" "" "00323863" "" "" "" "1" "" "03704" "{PMID:Bodian et al., 2009:18996919}" "" "" "" "" "" "0" "" "" "" "" "00323864" "" "" "" "1" "" "01819" "" "" "" "" "" "" "0" "" "" "" "" "00323865" "" "" "" "1" "" "00085" "{PMID:Lamande et al., 1989:2777764}" "" "" "" "" "" "0" "" "" "" "" "00323866" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323867" "" "" "" "1" "" "03704" "{PMID:Bodian et al., 2009:18996919}" "" "" "" "" "" "0" "" "" "" "" "00323868" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323869" "" "" "" "1" "" "03855" "" "" "" "" "" "" "0" "" "" "" "" "00323870" "" "" "" "1" "" "03861" "" "" "" "" "" "" "0" "" "" "white" "" "00323871" "" "" "" "1" "" "03872" "" "" "" "" "" "" "0" "" "" "Chinese Han" "" "00323872" "" "" "" "1" "" "03704" "{PMID:Bodian et al., 2009:18996919}" "" "" "" "" "" "0" "" "" "" "" "00323873" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323874" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323875" "" "" "" "1" "" "00085" "{PMID:Stephen et al., 2014:24668929}" "" "" "" "" "" "0" "" "" "" "" "00323876" "" "" "" "1" "" "00085" "{PMID:Zhang et al., 2017:27748872}" "" "" "" "" "" "0" "" "" "Han Chinese" "" "00323877" "" "" "" "1" "" "00085" "{PMID:Lund et al., 1999:10408781}" "" "" "" "" "" "0" "" "" "" "" "00323878" "" "" "" "1" "" "03879" "{PMID:Lindahl et al., 2015:25944380}" "Sibling with OI type III has same mutation c.2918G>T but neither healthy parent has this variant. Suspected mosaicism not investigated further in parents." "" "" "" "" "0" "" "" "" "" "00323879" "" "" "" "1" "" "03879" "{PMID:Lindahl et al., 2015:25944380}" "Sibling (AN_004983) harbours the same variant and also has OI type III. Neither healthy parent harbours this variant. Suspected germline mosaicism has not been investigated further in the parents." "" "" "" "" "0" "" "" "" "" "00323880" "" "" "" "1" "" "00085" "{PMID:Mohd Nawawi et al., 2018:29807018}" "The technique used was the custom Gene panel" "" "" "" "" "0" "" "" "Malaysian" "" "00323881" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323882" "" "" "" "1" "" "00085" "{PMID:Pollitt et al., 2006:16786509}" "The patient harbours the g.36436A>G splice site mutation in COL1A2 and the c.613C>G (p.Pro205Ala) missense mutation in COL1A1." "" "" "" "" "0" "" "" "" "" "00323883" "" "" "" "1" "" "03853" "" "" "" "" "" "" "0" "" "" "" "" "00323884" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323885" "" "" "" "1" "" "00085" "{PMID:Pollitt et al., 2006:16786509}" "" "" "" "" "" "0" "" "" "" "" "00323886" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Nuytinck and De Paepe, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323887" "" "" "" "1" "" "03855" "" "" "" "" "" "" "0" "" "" "" "" "00323888" "" "" "" "1" "" "00085" "{PMID:Lee et al., 2006:16705691}" "" "" "" "" "" "0" "" "" "" "" "00323889" "" "" "" "1" "" "00085" "{PMID:Zhang et al., 2011:21667357}" "The variant in this patient is described by the authors as causing a frameshift, but it\'s actually an in-frame duplication." "" "" "" "" "0" "" "" "Han Chinese" "" "00323890" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Marini and Cabral, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323891" "" "" "" "1" "" "03704" "{PMID:Pace et al., 2001:11668615}" "" "" "" "" "" "0" "" "" "" "" "00323892" "" "" "" "1" "" "00085" "{PMID:Horwitz et al., 1999:10086387}" "The patient is described as having severe deforming OI and this is interpreted to mean OI III. The mutation is reported only in terms of the protein change and the underlying DNA change is assumed to be the same as Patient 10 described by {PMID:Pace et al., 2001:11668615}." "" "" "" "" "0" "" "" "" "" "00323893" "" "" "" "1" "" "00085" "{PMID:Venturi et al., 2006:16879195}" "" "" "" "" "" "0" "" "" "" "" "00323894" "" "" "" "1" "" "03870" "{dbSNP72659316}" "" "" "" "" "" "0" "" "" "" "" "00323895" "" "" "" "1" "" "01819" "" "" "" "" "" "" "0" "" "" "" "" "00323896" "" "" "" "1" "" "03704" "{PMID:Pyott et al., 2011:21239989}" "Although OI was recurrent in this family, neither parent was identified as being mosaic." "" "" "" "" "0" "" "" "" "" "00323897" "" "" "" "1" "" "00085" "{PMID:Mrosk et al., 2018:29499418}" "The technique used was whole exome sequencing." "" "" "" "" "0" "" "" "Indian" "" "00323898" "" "" "" "1" "" "00085" "{PMID:Baldwin et al., 1989:2914942}" "" "" "" "" "" "0" "" "" "" "" "00323899" "" "" "" "1" "" "00085" "{PMID:Le Blanc et al., 2005:15940052}" "The patient in this study was a foetus described as having severe osteogenesis imperfecta on the basis of ultrasound scans at weeks 24 to 27. The foetus underwent transplantation of mesenchymal stem cells in utero. The patient was described subsequently as Patient A by {PMID:Götherström et al., 2013:24342908} and as having an OI III phenotype." "" "" "" "" "0" "" "" "" "" "00323900" "" "" "" "1" "" "00085" "{PMID:Götherström et al., 2013:24342908}" "The patient died at 5 months of age." "M" "" "Canada" "" "0" "" "" "" "" "00323901" "" "" "" "1" "" "03879" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "" "" "0" "" "" "" "" "00323902" "" "" "" "1" "" "03855" "{PMID:Pollitt et al., 2006:16786509}" "" "" "" "" "" "0" "" "" "" "" "00323903" "" "" "" "1" "" "00085" "{PMID:Kidszun et al., 2016:27244824}" "This case of OI was diagnosed in utero by ultrasound scanning and by genetic screening. The OI type of the live-born child is not formally presented but it is certainly severe." "" "" "" "" "0" "" "" "" "" "00323904" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323905" "" "" "" "1" "" "03704" "{PMID:Bodian et al., 2009:18996919}" "" "" "" "" "" "0" "" "" "" "" "00323906" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323907" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323908" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Nuytinck and De Paepe, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323909" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323910" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323911" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Marini and Barnesication, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323912" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Marini and Cabral, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323913" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Lund, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323914" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323915" "" "" "" "1" "" "00085" "{PMID:Marini et al., 1993:8094076}" "The technique used was ribonuclease A analysis (RNaseA)." "" "" "" "" "0" "" "" "" "" "00323916" "" "" "" "1" "" "00085" "{PMID:Sztrolovics et al., 1993:8401517}" "" "" "" "" "" "0" "" "" "" "" "00323917" "" "" "" "1" "" "00085" "{PMID:Forlino et al., 1997:9367795}" "" "" "" "" "" "0" "" "" "" "" "00323918" "" "" "" "1" "" "00085" "{PMID:Hartikka et al., 2004:15241796}" "" "" "" "" "" "0" "" "" "" "" "00323919" "" "" "" "1" "" "00085" "{PMID:Lee et al., 2006:16705691}" "" "" "" "" "" "0" "" "" "" "" "00323920" "" "" "" "1" "" "03870" "{dbSNP72659319}" "" "" "" "" "" "0" "" "" "" "" "00323921" "" "" "" "1" "" "03855" "" "" "" "" "" "" "0" "" "" "" "" "00323922" "" "" "" "1" "" "01819" "" "" "" "" "" "" "0" "" "" "" "" "00323923" "" "" "" "1" "" "01819" "" "" "" "" "" "" "0" "" "" "" "" "00323924" "" "" "" "1" "" "03865" "" "" "" "" "" "" "0" "" "" "Chinese" "" "00323925" "" "" "" "1" "" "03865" "" "" "" "" "" "" "0" "" "" "" "" "00323926" "" "" "" "1" "" "03865" "" "" "" "" "" "" "0" "" "" "" "" "00323927" "" "" "" "1" "" "03872" "" "" "" "" "" "" "0" "" "" "Han Chinese" "" "00323928" "" "" "" "1" "" "03879" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "" "" "0" "" "" "Swedish" "" "00323929" "" "" "" "1" "" "00085" "{PMID:Stephen et al., 2015:25450603}" "The technique used was whole exome sequencing." "" "" "" "" "0" "" "" "Indian" "" "00323930" "" "" "" "1" "" "01819" "{PMID:Essawi 2018:29150909}" "" "" "" "Palestine" "" "0" "" "" "Palestinian" "AN_005813" "00323931" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323932" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323933" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00323934" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323935" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323936" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323937" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323938" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323939" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323940" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323941" "" "" "" "1" "" "00085" "{PMID:Mohd Nawawi et al., 2018:29807018}" "The technique used was the custom Gene panel" "" "" "" "" "0" "" "" "Malaysian" "" "00323942" "" "" "" "1" "" "03897" "{PMID:Zhytnik 2019:31447884}, {PMID:Zhytnik 2020:32166892}" "monozygotic twin sisters" "" "" "Ukraine" "" "0" "" "" "" "UA51" "00323943" "" "" "" "1" "" "01819" "" "" "" "" "" "" "0" "" "" "" "" "00323944" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Nuytinck and De Paepe, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323945" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Marini, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323946" "" "" "" "1" "" "03872" "" "" "" "" "" "" "0" "" "" "Chinese Han" "" "00323947" "" "" "" "1" "" "03879" "{PMID:Lindahl et al., 2015:25944380}" "The patient\'s parents are cousins and have no OI phenotype. The patient\'s sibling (AN_005092) is also affected by OI and harbours the same variant. However, this variant is not considered to be disease-causing." "" "" "" "" "0" "" "" "" "" "00323948" "" "" "" "1" "" "03865" "" "" "" "" "" "" "0" "" "" "" "" "00323949" "" "" "" "1" "" "03865" "" "" "" "" "" "" "0" "" "" "" "" "00323950" "" "" "" "1" "" "03865" "" "" "" "" "" "" "0" "" "" "" "" "00323951" "" "" "" "1" "" "00085" "{PMID:Baldwin et al., 1989:2914942}" "" "" "" "" "" "0" "" "" "" "" "00323952" "" "" "" "1" "" "03704" "{PMID:Pyott et al., 2011:21239989}" "" "" "" "" "" "0" "" "" "" "" "00323953" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323954" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323955" "" "" "" "1" "" "03704" "{PMID:Bodian et al., 2009:18996919}" "" "" "" "" "" "0" "" "" "" "" "00323956" "" "" "" "1" "" "03853" "" "" "" "" "" "" "0" "" "" "white" "" "00323957" "" "" "" "1" "" "03879" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "" "" "0" "" "" "" "" "00323958" "" "" "" "1" "" "00085" "{PMID:Nicholls et al., 2001:11288717}" "The recessive mutation in this patient results in the use of a cryptic splice site in exon 46 leading to the loss of the last 17 nt of exon 46 resulting in a frameshift and a null allele." "" "" "" "" "0" "" "" "" "" "00323959" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323960" "" "" "" "1" "" "03879" "{PMID:Lindahl et al., 2015:25944380}" "Adopted - no hereditary information available." "" "" "" "" "0" "" "" "" "" "00323961" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323962" "" "" "" "1" "" "03704" "{PMID:Pyott et al., 2011:21239989}" "" "" "" "" "" "0" "" "" "" "" "00323963" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323964" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Cohn, King and Krakow, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323965" "" "" "" "1" "" "00085" "{PMID:Wu et al., 2014:25289482}" "" "" "" "" "" "0" "" "" "" "" "00323966" "" "" "" "1" "" "01819" "" "" "" "" "" "" "0" "" "" "" "" "00323967" "" "" "" "1" "" "00085" "{PMID:Strobel et al., 1992:1603040} {PMID:Yoneyama et al., 2004:14739420} {PMID:Chan et al., 2008:18272325} {PMID:Bodian et al., 2009:18996919}" "" "" "" "" "" "0" "" "" "" "" "00323968" "" "" "" "1" "" "00085" "{dbSNP35820023}" "" "" "" "" "" "0" "" "" "" "" "00323969" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323970" "" "" "" "1" "" "03855" "" "" "" "" "" "" "0" "" "" "" "" "00323971" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "Skips exon 47." "" "" "" "" "0" "" "" "" "" "00323972" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323973" "" "" "" "1" "" "03704" "{PMID:Bodian et al., 2009:18996919}" "" "" "" "" "" "0" "" "" "" "" "00323974" "" "" "" "1" "" "03872" "{PMID:Wang et al., 2015:26307460}" "This is Patient 4 in {PMID26307460:Wang et al., 2015}. The authors confirm that the patient\'s phenotype is OI type I, rather than the OI type I/IV phenotype which was reported when the patient was first added to the database." "" "" "" "" "0" "" "" "Han Chinese" "" "00323975" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323976" "" "" "" "1" "" "00085" "{PMID:Wang et al., 2019:30829463}" "The technique used was whole exome sequencing." "" "" "" "" "0" "" "" "Han Chinese" "" "00323977" "" "" "" "1" "" "00085" "{PMID:Zhang et al., 2017:27748872}" "" "" "" "" "" "0" "" "" "Han Chinese" "" "00323978" "" "" "" "1" "" "03865" "" "" "" "" "" "" "0" "" "" "" "" "00323979" "" "" "" "1" "" "00085" "{dbSNP401700}" "" "" "" "" "" "0" "" "" "" "" "00323980" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00323981" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323982" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323983" "" "" "" "1" "" "03855" "" "" "" "" "" "" "0" "" "" "" "" "00323984" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323985" "" "" "" "1" "" "00475" "" "" "" "" "" "" "0" "" "" "white" "" "00323986" "" "" "" "1" "" "03855" "" "" "" "" "" "" "0" "" "" "" "" "00323987" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323988" "" "" "" "1" "" "00085" "{PMID:Pollitt et al., 2006:16786509}" "" "" "" "" "" "0" "" "" "" "" "00323989" "" "" "" "1" "" "03704" "{PMID:Pyott et al., 2011:21239989}" "" "" "" "" "" "0" "" "" "" "" "00323990" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00323991" "" "" "" "1" "" "00085" "{PMID:Faqeih et al., 2009:19208385}" "The patient\'s mutation at the DNA level has been deduced from the reported amino acid substitution and subsequently confirmed by the authors." "" "" "" "" "0" "" "" "" "" "00323992" "" "" "" "1" "" "01819" "" "" "" "" "" "" "0" "" "" "" "" "00323993" "" "" "" "1" "" "03855" "" "" "" "" "" "" "0" "" "" "" "" "00323994" "" "" "" "1" "" "00085" "{PMID:Trancozo et al., 2019:31429852}" "" "" "" "" "" "0" "" "" "Brazilian" "" "00323995" "" "" "" "1" "" "00085" "{PMID:Rauch et al., 2014:25086671}" "" "" "" "" "" "0" "" "" "" "" "00323996" "" "" "" "1" "" "00085" "{PMID:Lund et al., 1996:8786065}" "" "" "" "" "" "0" "" "" "" "" "00323997" "" "" "" "1" "" "00085" "{PMID:Lee et al., 2006:16705691}" "" "" "" "" "" "0" "" "" "" "" "00323998" "" "" "" "1" "" "00085" "{PMID:Lu et al., 1995:7749416}" "This patient was described again in {PMID8728690:Cole and Lam, 1996} and again as Patient 2 in {PMID:Faqeih et al., 2009:19208385}." "" "" "" "" "0" "" "" "" "" "00323999" "" "" "" "1" "" "03704" "{PMID:Pace et al., 2001:11668615}" "" "" "" "" "" "0" "" "" "" "" "00324000" "" "" "" "1" "" "00085" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00324001" "" "" "" "1" "" "00085" "{PMID:Faqeih et al., 2009:19208385}" "The patient\'s mutation at the DNA level has been deduced from the reported amino acid substitution and subsequently confirmed by the authors." "" "" "" "" "0" "" "" "" "" "00324002" "" "" "" "1" "" "00085" "{PMID:Budsamonkol et al.,2019:31193991}" "The technique used was whole exome sequencing." "" "" "" "" "0" "" "" "Thai" "" "00324003" "" "" "" "1" "" "00085" "{PMID:Trancozo et al., 2019:31429852}" "" "" "" "" "" "0" "" "" "Brazilian" "" "00324004" "" "" "" "1" "" "00085" "{PMID:Hartikka et al., 2004:15241796}" "" "" "" "" "" "0" "" "" "" "" "00324005" "" "" "" "1" "" "00085" "{PMID:Zhang et al., 2017:27748872}" "" "" "" "" "" "0" "" "" "Han Chinese" "" "00324006" "" "" "" "1" "" "00085" "{PMID:Roschger et al., 2008:18311573}" "" "" "" "" "" "0" "" "" "" "" "00324007" "" "" "" "1" "" "00085" "{PMID:Wenstrup et al., 1998:2897363}" "" "" "" "" "" "0" "" "" "" "" "00324008" "" "" "" "1" "" "00085" "{PMID:Faqeih et al., 2009:19208385}" "The patient\'s mutation at the DNA level has been deduced from the reported amino acid substitution and subsequently confirmed by the authors." "" "" "" "" "0" "" "" "" "" "00324009" "" "" "" "1" "" "03865" "" "" "" "" "" "" "0" "" "" "" "" "00324010" "" "" "" "1" "" "03865" "" "" "" "" "" "" "0" "" "" "" "" "00324011" "" "" "" "1" "" "03879" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "" "" "0" "" "" "Swedish" "" "00324012" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00324013" "" "" "" "1" "" "01819" "{PMID:Essawi 2018:29150909}" "" "" "" "Palestine" "" "0" "" "" "Palestinian" "AN_005811" "00324014" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00324015" "" "" "" "1" "" "00085" "{PMID:Xu et al., 2011:21530898}" "The proband is individual III:1 in the family 2 pedigree. The severity of OI is variable in the family and the OI is not clearly stated for the proband, though the description is consistent with type III." "" "" "" "" "0" "" "" "Chinese" "" "00324016" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00324017" "" "" "" "1" "" "03704" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "" "" "0" "" "" "" "" "00324018" "" "" "" "1" "" "00085" "{PMID:Ho Duy et al., 2016:27519266}" "" "" "" "" "" "0" "" "" "Vietnamese" "" "00324019" "" "" "" "1" "" "00085" "{PMID:Mrosk et al., 2018:29499418}" "" "" "" "" "" "0" "" "" "Indian" "" "00324020" "" "" "" "1" "" "03855" "" "The variant detected in this patient is probably not pathogeneic as it has been found in 1 of 289 Asian individuals studied by the 1000 Genomes project and in 1 of 585 European individuals studied by the NHLBI Exome Sequencing Project (ESP)." "" "" "" "" "0" "" "" "" "" "00324021" "" "" "" "1" "" "00085" "{PMID:Zhang et al., 2011:21667357}" "The variant detected in this patient is probably not pathogeneic as it has been found in 1 of 289 Asian individuals studied by the 1000 Genomes project and in 1 of 585 European individuals studied by the NHLBI Exome Sequencing Project (ESP)." "" "" "" "" "0" "" "" "Han Chinese" "" "00324022" "" "" "" "1" "" "00085" "{PMID:Stephen et al., 2014:24668929}" "The variant detected in this patient is probably not pathogeneic as it has been found in 1 of 289 Asian individuals studied by the 1000 Genomes project and in 1 of 585 European individuals studied by the NHLBI Exome Sequencing Project (ESP)." "" "" "" "" "0" "" "" "" "" "00324023" "" "" "" "1" "" "00085" "{PMID:Rolvien et al., 2018:29946973}" "The DNA-level variant data and OI phenotype were provided by Dr Tim Rolvien.The variant detected in this patient is probably not pathogeneic as it has been found in 1 of 289 Asian individuals studied by the 1000 Genomes project and in 1 of 585 European individuals studied by the NHLBI Exome Sequencing Project (ESP)." "" "" "" "" "0" "" "" "" "" "00324024" "" "" "" "1" "" "01819" "" "" "" "" "" "" "0" "" "" "" "" "00324025" "" "" "" "1" "" "00085" "{dbSNP34691365}" "" "" "" "" "" "0" "" "" "" "" "00324026" "" "" "" "1" "" "00085" "{PMID:Xu et al., 2011:21530898}" "The proband is individual III:3 in the family 1 pedigree. The severity of OI is variable in the family and the OI type is not clearly stated for the proband, though the form is described as severe." "" "" "" "" "0" "" "" "Chinese" "" "00324027" "" "" "" "1" "" "03872" "" "" "" "" "" "" "0" "" "" "Chinese Han" "" "00324028" "" "" "" "1" "" "00085" "{PMID:Vasanwala et al., 2016:26845496}" "" "" "" "" "" "0" "" "" "British" "" "00324029" "" "" "" "1" "" "00085" "{PMID:Lindahl et al., 2011:21344539}" "The patient is described as having mild OI with above average stature and high bone density." "" "" "" "" "0" "" "" "white American" "" "00324030" "" "" "" "1" "" "01819" "" "" "" "" "" "" "0" "" "" "" "" "00324031" "" "" "" "1" "" "00085" "{PMID:Nishimura et al., 2016:27264419}" "Affected family members exhibit a high bone mass form of osteogenesis imperfecta. The family was previously described by {PMID:Nishimura et al., 1999:10340645}.The technique used was whole exome sequencing." "" "" "" "" "0" "" "" "" "" "00324032" "" "" "" "1" "" "00085" "Li, 2009 ASHG Meeting 2009 Program Number: 2630" "The patients in the pedigree who harbour this variant are described as having generalised increased bone mineral density and increased body mass index.The Patient ID was assigned by the database curator and is not used as an identifier in the published account." "" "" "" "" "0" "" "" "Iraqi" "" "00324033" "" "" "" "1" "" "00085" "{PMID:Oliver et al., 1996:8723681}" "In addition to the de novo pathogenic c.4391T>C variant in COL1A1, the patient also harbours the inherited variant c.3442A>C (p.Thr1148Pro) in the COL1A2 gene. It is not clear if that variant modifies the patient\'s phenotype.The Patient ID was assigned by the database curator and is not used as an identifier in the published account." "" "" "" "" "0" "" "" "British" "" "00324034" "" "" "" "1" "" "03890" "E. Mornet, personal communication" "Adult patient. The mutation was found associated with the COL1A1 variant c.3247G>A (p.Ala1083Thr)The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "" "" "00324035" "" "" "" "1" "" "03890" "" "The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "" "" "00324036" "" "" "" "1" "" "03869" "" "" "" "" "" "" "0" "" "" "Brazilian" "" "00324037" "" "" "" "1" "" "03704" "{PMID:Pace et al., 2008:18375391}" "" "" "" "" "" "0" "" "" "" "" "00324038" "" "" "" "1" "" "03885" "{PMID:Bardai et al.,2016:27509835}" "The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "" "" "00324039" "" "" "" "1" "" "00085" "Ponnapakkam et al., 2006 {ASHG06:30600:View abstract}" "The Patient ID was assigned by the database curator and is not used as an identifier in the published account." "" "" "" "" "0" "" "" "" "" "00324040" "" "" "" "1" "" "03704" "{PMID:Pace et al., 2008:18375391}" "" "" "" "" "" "0" "" "" "" "" "00324041" "" "" "" "1" "" "01819" "{PMID:Symoens et al., 2014:25146735}" "" "" "" "" "" "0" "" "" "" "" "00324042" "" "" "" "1" "" "00085" "{dbSNP384444}" "" "" "" "" "" "0" "" "" "" "" "00324043" "" "" "" "1" "" "00085" "{dbSNP422361}" "" "" "" "" "" "0" "" "" "" "" "00324044" "" "" "" "1" "" "03890" "E. Mornet, personal communication" "The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "" "" "00324045" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00324046" "" "" "" "1" "" "00085" "{PMID:Pollitt et al., 2006:16786509}" "" "" "" "" "" "0" "" "" "" "" "00324047" "" "" "" "1" "" "00085" "{dbSNP384487}" "" "" "" "" "" "0" "" "" "" "" "00324048" "" "" "" "1" "" "00085" "{dbSNP384497}" "" "" "" "" "" "0" "" "" "" "" "00324049" "" "" "" "1" "" "03704" "{PMID:Schwarze et al., 2004:15077201}" "The patient is homozygous for a null mutation." "" "" "" "" "0" "" "" "" "" "00324050" "" "" "" "1" "" "00085" "{PMID:Taillandier et al., 2015:26432670}" "The authors do not offer a suggested diagnosis for this patient. The variant is relatively common in non-Finnish Europeans.The technique used was the custom NGS Gene panel." "" "" "" "" "0" "" "" "" "" "00324051" "" "" "" "1" "" "00085" "{dbSNP116275}" "" "" "" "" "" "0" "" "" "" "" "00324052" "" "" "" "1" "" "03865" "" "" "" "" "" "" "0" "" "" "" "" "00324053" "" "" "" "1" "" "00085" "{PMID:Zhang et al., 2017:27748872}" "" "" "" "" "" "0" "" "" "Han Chinese" "" "00324054" "" "" "" "1" "" "03861" "" "" "" "" "" "" "0" "" "" "white" "" "00324055" "" "" "" "1" "" "01819" "{PMID:Symoens et al., 2014:25146735}" "The patient has a mild form of OI." "" "" "" "" "0" "" "" "" "" "00324056" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00324057" "" "" "" "1" "" "00085" "{dbSNP6946518}" "" "" "" "" "" "0" "" "" "" "" "00324058" "" "" "" "1" "" "01819" "{PMID:Symoens et al., 2014:25146735}" "" "" "" "" "" "0" "" "" "" "" "00324059" "" "" "" "1" "" "03872" "" "" "" "" "" "" "0" "" "" "Chinese Han" "" "00324060" "" "" "" "1" "" "00085" "{PMID:Lin et al., 2015:26627451}" "" "" "" "" "" "0" "" "" "Taiwanese" "" "00324061" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00324062" "" "" "" "1" "" "00085" "{dbSNP34038163}" "" "" "" "" "" "0" "" "" "" "" "00324063" "" "" "" "1" "" "00085" "{dbSNP663}" "" "" "" "" "" "0" "" "" "" "" "00324064" "" "" "" "1" "" "03878" "" "The COL1A2 variant in this patient is relatively common in some populations ({ExAC7-94058641-A-C}) and might modify the phenotype resulting from the COL1A1 variant." "" "" "" "" "0" "" "" "white" "" "00324065" "" "" "" "1" "" "00085" "{PMID:Rolvien et al., 2018:29946973}" "The DNA-level variant data and OI phenotype were provided by Dr Tim Rolvien." "" "" "" "" "0" "" "" "" "" "00324066" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00324067" "" "" "" "1" "" "00085" "{PMID:Sule et al., 2013:23443412}" "" "" "" "" "" "0" "" "" "" "" "00324068" "" "" "" "1" "" "03855" "" "" "" "" "" "" "0" "" "" "" "" "00324069" "" "" "" "1" "" "00085" "{dbSNP6946698}" "" "" "" "" "" "0" "" "" "" "" "00324070" "" "" "" "1" "" "03704" "{PMID:Pace et al., 2008:18375391}" "The proband is individual III-4 in pedigree P1." "" "" "" "" "0" "" "" "" "" "00324071" "" "" "" "1" "" "03704" "{PMID:Pace et al., 2008:18375391}" "The proband is individual II-1 in pedigree P2." "" "" "" "" "0" "" "" "" "" "00324072" "" "" "" "1" "" "03704" "{PMID:McNeeley et al., 2012:22527359}" "The patient presented with a dilated aortic root and an aortic dissection.The variant details were not included in the paper, but were provided by Dr Peter Byers.The Patient ID was assigned by the database curator and is not used as an identifier in the published account." "" "" "" "" "0" "" "" "" "" "00324073" "" "" "" "1" "" "01819" "{PMID:Symoens et al., 2014:25146735}" "" "" "" "" "" "0" "" "" "" "" "00324074" "" "" "" "1" "" "01819" "{PMID:Symoens et al., 2014:25146735}" "" "" "" "" "" "0" "" "" "" "" "00324075" "" "" "" "1" "" "00085" "{PMID:Pihlajaniemi et al., 1984:6092353}" "The patient is homozygous for this variant which is the earliest recorded disease-causing variant in any type of OI.The Patient ID was assigned by the database curator and is not used as an identifier in the published account." "" "" "" "" "0" "" "" "" "" "00324076" "" "" "" "1" "" "01819" "{PMID:Symoens et al., 2014:25146735}" "" "" "" "" "" "0" "" "" "" "" "00324077" "" "" "" "1" "" "00085" "{dbSNP2229806}" "" "" "" "" "" "0" "" "" "" "" "00324078" "" "" "" "1" "" "01819" "{PMID:Symoens et al., 2014:25146735}" "" "" "" "" "" "0" "" "" "" "" "00324079" "" "" "" "1" "" "03855" "" "Change not found in affected daughter" "" "" "" "" "0" "" "" "" "" "00324080" "" "" "" "1" "" "00085" "{PMID:Wang et al., 2015:25742658} {PMID:Wang et al., 2015:25933069}" "This variant has been shown not to segregate with with the OI phenotype in another family." "" "" "" "" "0" "" "" "Chinese" "" "00324081" "" "" "" "1" "" "00085" "{PMID:Hamatani et al., 2017:29225276}" "The patient also has mucopolysaccharidosis (MPS) type III but harbours no sequence variants known to be associated with MPS.The technique used was whole exome sequencing." "" "" "" "" "0" "" "" "" "" "00324082" "" "" "" "1" "" "00085" "{PMID:Reuter et al., 2013:24140640}" "" "" "" "" "" "0" "" "" "" "" "00324083" "" "" "" "1" "" "00085" "{dbSNP418570}" "" "" "" "" "" "0" "" "" "" "" "00324084" "" "" "" "1" "" "03861" "" "It\'s not clear that this variant is actually disease causing. Although isoleucine is not universally conserved, valine is the only other amino acid commonly found at this position." "" "" "" "" "0" "" "" "" "" "00324085" "" "" "" "1" "" "01819" "{PMID:Symoens et al., 2014:25146735}" "" "" "" "" "" "0" "" "" "" "" "00324086" "" "" "" "1" "" "00085" "{PMID:Papamerkouriou et al., 2016:27282461}" "" "" "" "" "" "0" "" "" "" "" "00324087" "" "" "" "1" "" "00085" "{PMID:Zhang et al., 2011:21667357}" "" "" "" "" "" "0" "" "" "Han Chinese" "" "00324088" "" "" "" "1" "" "00085" "{PMID:Venturi et al., 2006:16879195}" "" "" "" "" "" "0" "" "" "" "" "00327428" "" "" "" "1" "" "00006" "{PMID:Demir 2021:33470886}" "analysis 43 OI patients" "F" "" "Turkey" "" "0" "" "" "" "B12" "00327439" "" "" "" "1" "" "00006" "{PMID:Demir 2021:33470886}" "analysis 43 OI patients" "F" "" "Turkey" "" "0" "" "" "" "B23" "00327440" "" "" "" "1" "" "00006" "{PMID:Demir 2021:33470886}" "analysis 43 OI patients" "F" "" "Turkey" "" "0" "" "" "" "B24" "00327441" "" "" "" "1" "" "00006" "{PMID:Demir 2021:33470886}" "analysis 43 OI patients" "M" "" "Turkey" "" "0" "" "" "" "B25" "00327442" "" "" "" "1" "" "00006" "{PMID:Demir 2021:33470886}" "analysis 43 OI patients" "F" "" "Turkey" "" "0" "" "" "" "B26" "00327443" "" "" "" "1" "" "00006" "{PMID:Demir 2021:33470886}" "analysis 43 OI patients" "F" "" "Turkey" "" "0" "" "" "" "B27" "00327444" "" "" "" "1" "" "00006" "{PMID:Demir 2021:33470886}" "analysis 43 OI patients" "F" "" "Turkey" "" "0" "" "" "" "B28" "00327445" "" "" "" "1" "" "00006" "{PMID:Demir 2021:33470886}" "analysis 43 OI patients" "M" "" "Turkey" "" "0" "" "" "" "B29" "00327446" "" "" "" "1" "" "00006" "{PMID:Demir 2021:33470886}" "analysis 43 OI patients" "M" "" "Turkey" "" "0" "" "" "" "B30" "00327455" "" "" "" "1" "" "00006" "{PMID:Demir 2021:33470886}" "analysis 43 OI patients" "M" "" "Turkey" "" "0" "" "" "" "B40" "00331372" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "M" "no" "" "" "0" "" "" "Arab" "11DG0066" "00331373" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "M" "yes" "" "" "0" "" "" "Arab" "14DG0921" "00331374" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "M" "no" "" "" "0" "" "" "Arab" "10DG1570" "00331375" "" "" "" "2" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 2 affected (F, M)" "F;M" "" "" "" "0" "" "" "Arab" "09DG01656, 09DG01657" "00331376" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "F" "" "" "" "0" "" "" "Arab" "14DG0759" "00359391" "" "" "" "1" "" "01396" "" "" "" "" "Brazil" "" "" "" "" "" "" "00359392" "" "" "" "1" "" "01396" "" "" "" "" "Brazil" "" "" "" "" "" "" "00359393" "" "" "" "1" "" "01396" "" "" "" "" "Brazil" "" "" "" "" "" "" "00359648" "" "" "" "1" "" "00006" "{PMID:Tang 2021:33777089}" "fetus" "" "" "China" "" "0" "" "" "" "Pat6" "00359650" "" "" "" "1" "" "00006" "{PMID:Tang 2021:33777089}" "fetus, 2 previous pregnancies with similar anomalies" "" "" "China" "" "0" "" "" "" "Pat8" "00359656" "" "" "" "1" "" "00006" "{PMID:Tang 2021:33777089}" "fetus" "" "" "China" "" "0" "" "" "" "Pat14" "00361893" "" "" "" "1" "" "04046" "" "" "M" "no" "Australia" "00y03m" "0" "" "" "" "" "00397355" "" "" "" "1" "" "00006" "{PMID:Rauch 2014:25086671}" "" "" "" "Canada" "" "0" "" "" "" "PatV2" "00397363" "" "" "" "1" "" "00006" "{PMID:Rauch 2014:25086671}" "" "" "" "Canada" "" "0" "" "" "" "PatV11" "00397364" "" "" "" "1" "" "00006" "{PMID:Rauch 2014:25086671}" "" "" "" "Canada" "" "0" "" "" "" "PatV12" "00397366" "" "" "" "1" "" "00006" "{PMID:Rauch 2014:25086671}" "" "" "" "Canada" "" "0" "" "" "" "PatV14" "00397368" "" "" "" "1" "" "00006" "{PMID:Rauch 2014:25086671}" "" "" "" "Canada" "" "0" "" "" "" "PatV16" "00397372" "" "" "" "1" "" "00006" "{PMID:Rauch 2014:25086671}" "" "" "" "Canada" "" "0" "" "" "" "PatV20" "00397373" "" "" "" "1" "" "00006" "{PMID:Rauch 2014:25086671}" "" "" "" "Canada" "" "0" "" "" "" "PatV21" "00397375" "" "" "" "1" "" "00006" "{PMID:Rauch 2014:25086671}" "" "" "" "Canada" "" "0" "" "" "" "PatV23" "00397377" "" "" "" "1" "" "00006" "{PMID:Rauch 2014:25086671}" "" "" "" "Canada" "" "0" "" "" "" "PatV25" "00399291" "" "" "" "1" "" "00006" "{PMID:Zhytnik 2017:28810924}" "" "" "" "Estonia" "" "0" "" "" "" "EE20" "00399293" "" "" "" "1" "" "00006" "{PMID:Zhytnik 2019:31447884}" "" "" "" "Ukraine" "" "0" "" "" "" "UA82" "00416434" "" "" "" "1" "" "04298" "{PMID:Ohata 2019:31363794}" "" "" "" "Japan" "" "0" "" "" "" "Pat11" "00416435" "" "" "" "1" "" "04298" "{PMID:Ohata 2019:31363794}" "" "" "" "Japan" "" "0" "" "" "" "Pat13" "00416436" "" "" "" "1" "" "04298" "{PMID:Ohata 2019:31363794}" "" "" "" "Japan" "" "0" "" "" "" "Pat14" "00416437" "" "" "" "1" "" "04298" "{PMID:Ohata 2019:31363794}" "" "" "" "Japan" "" "0" "" "" "" "Pat15" "00416438" "" "" "" "4" "" "04298" "{PMID:Wang 2019:30829463}" "" "M" "no" "China" ">66y" "0" "" "" "" "Pat1" "00416439" "" "" "00416438" "2" "" "04298" "{PMID:Wang 2019:30829463}" "" "M" "no" "China" ">62y" "0" "" "" "" "Pat2" "00416499" "" "" "" "1" "" "03528" "" "" "" "" "" "" "" "" "" "" "" "00417016" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417021" "" "" "" "1" "" "02544" "{PMID:Morlino 2020:31794058}" "" "" "" "Italy" "" "0" "" "" "" "" "00417022" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417034" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417039" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417043" "" "" "" "1" "" "02544" "{PMID:Morlino 2020:31794058}" "" "" "" "Italy" "" "0" "" "" "" "" "00417049" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417058" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417061" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417063" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417083" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417085" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417086" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417087" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417090" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417103" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417106" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417119" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417122" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417124" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417132" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417135" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417136" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417142" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417149" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417150" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417159" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00424613" "" "" "" "2" "" "02284" "" "2-generation family, boy and affected mother carrying the same variant" "M" "no" "Italy" "" "0" "" "" "" "ED2176" "00427923" "" "" "" "1" "" "03820" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "M" "" "Brazil" "" "0" "" "" "" "BR2022-24" "00427924" "" "" "" "1" "" "03820" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "M" "" "France" "" "0" "" "" "" "FR2022-28" "00427925" "" "" "" "1" "" "03820" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "F" "" "Brazil" "" "0" "" "" "" "BR2022-25" "00427926" "" "" "" "1" "" "03820" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "F" "" "Brazil" "" "0" "" "" "" "BR2022-26" "00427927" "" "" "" "1" "" "03820" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "F" "" "France" "" "0" "" "" "" "FR2022-29" "00427928" "" "" "" "1" "" "03820" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "M" "" "Brazil" "" "0" "" "" "" "BR2022-27" "00427929" "" "" "" "1" "" "03820" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "M" "" "Brazil" "" "0" "" "" "" "BR2022-28" "00427930" "" "" "" "1" "" "03820" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "F" "" "France" "" "0" "" "" "" "FR2022-30" "00427931" "" "" "" "1" "" "03820" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "M" "" "Brazil" "" "0" "" "" "" "BR2022-29" "00427932" "" "" "" "1" "" "03820" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "M" "" "Brazil" "" "0" "" "" "" "BR2022-30" "00427933" "" "" "" "1" "" "03820" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "M" "" "Brazil" "" "0" "" "" "" "BR2022-31" "00427934" "" "" "" "1" "" "03820" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "F" "" "Brazil" "" "0" "" "" "" "BR2022-32" "00427935" "" "" "" "1" "" "03820" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "M" "" "Brazil" "" "0" "" "" "" "BR2022-33" "00427936" "" "" "" "1" "" "03820" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "M" "" "France" "" "0" "" "" "" "FR2022-31" "00427937" "" "" "" "1" "" "03820" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "M" "" "France" "" "0" "" "" "" "FR2022-32" "00427938" "" "" "" "1" "" "03820" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "M" "" "France" "" "0" "" "" "" "FR2022-33" "00427939" "" "" "" "1" "" "03820" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "M" "" "France" "" "0" "" "" "" "FR2022-34" "00427940" "" "" "" "1" "" "03820" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "F" "" "France" "" "0" "" "" "" "FR2022-35" "00427941" "" "" "" "1" "" "03820" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "M" "" "Brazil" "" "0" "" "" "" "BR2022-34" "00427942" "" "" "" "1" "" "03820" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "F" "" "Brazil" "" "0" "" "" "" "BR2022-35" "00427943" "" "" "" "1" "" "03820" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "F" "" "Brazil" "" "0" "" "" "" "BR2022-36" "00427944" "" "" "" "1" "" "03820" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "F" "" "France" "" "0" "" "" "" "FR2022-36" "00427945" "" "" "" "1" "" "03820" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "M" "" "Brazil" "" "0" "" "" "" "BR2022-37" "00427946" "" "" "" "1" "" "03820" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "F" "" "France" "" "0" "" "" "" "FR2022-37" "00427947" "" "" "" "1" "" "03820" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "M" "" "Brazil" "" "0" "" "" "" "BR2022-38" "00427948" "" "" "" "1" "" "03820" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "M" "" "Brazil" "" "0" "" "" "" "BR2022-39" "00427949" "" "" "" "1" "" "03820" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "M" "" "France" "" "0" "" "" "" "FR2022-38" "00427950" "" "" "" "1" "" "03820" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "M" "" "Brazil" "" "0" "" "" "" "BR2022-40" "00427951" "" "" "" "1" "" "03820" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "F" "" "France" "" "0" "" "" "" "FR2022-39" "00427952" "" "" "" "1" "" "03820" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "M" "" "France" "" "0" "" "" "" "FR2022-40" "00427953" "" "" "" "1" "" "03820" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "F" "" "France" "" "0" "" "" "" "FR2022-41" "00428048" "" "" "" "1" "" "04419" "{PMID:Budsamongkol et al., 2019:31193991}" "" "M" "no" "Thailand" "" "" "" "" "" "1" "00431155" "" "" "" "1" "" "04305" "{PMID:Junkiert-Czarnecka et al., 2022:35723357}" "" "?" "?" "Poland" "" "" "" "" "" "25" "00431156" "" "" "" "1" "" "04305" "{PMID:Junkiert-Czarnecka et al., 2022:35723357}" "" "?" "?" "Poland" "" "" "" "" "" "26" "00431157" "" "" "" "1" "" "04305" "{PMID:Junkiert-Czarnecka et al., 2022:35723357}" "" "?" "no" "Poland" "" "" "" "" "" "27" "00431158" "" "" "" "1" "" "04305" "{PMID:Junkiert-Czarnecka et al., 2022:35723357}" "" "?" "?" "Poland" "" "0" "" "" "" "28" "00431159" "" "" "" "1" "" "04305" "{PMID:Junkiert-Czarnecka et al., 2022:35723357}" "" "?" "?" "Poland" "" "" "" "" "" "29" "00431160" "" "" "" "1" "" "04305" "{PMID:Junkiert-Czarnecka et al., 2022:35723357}" "" "?" "?" "Poland" "" "" "" "" "" "30" "00431210" "" "" "00416438" "2" "" "04298" "{PMID:Wang 2019:30829463}" "" "" "" "" "" "0" "" "" "" "Pat3" "00431355" "" "" "" "1" "" "04465" "{PMID:Hemwong 2020:32071780}" "" "M" "no" "Thailand" ">06y" "0" "" "" "" "patient" "00431357" "" "" "" "3" "" "04465" "{PMID:Udomchaiprasertkul 2020:32081708}" "5-generation family, 1 affected, mildly affected heterozygous carrier parents" "F" "yes" "Thailand" ">17y" "0" "" "" "" "FamPatV1" "00431359" "" "" "00431357" "2" "" "00006" "{PMID:Udomchaiprasertkul 2020:32081708}" "father/mother patient" "F;M" "" "Thailand" "" "0" "" "" "" "FamPatIV1/2" "00431775" "" "" "" "1" "" "04465" "{DOI:He 2021:10.1210/jendso/bvab048.424}" "The clinical manifestation of OI in this family \r\nvaries to a certain extent, from simple tooth disintegration \r\nto severe fracture deformity." "M" "?" "China" ">55y" "" "" "" "" "" "00431777" "" "" "" "1" "" "04465" "{PMID:Duangchan 2021:34015290}" "" "M" "?" "Thailand" ">20y" "" "" "" "" "Pat2" "00431778" "" "" "" "1" "" "04465" "{PMID:Redman 2021:34538206}" "Severe OI" "F" "?" "United Kingdom (Great Britain)" ">05y" "" "" "" "" "Pat7" "00431789" "" "" "" "1" "" "04136" "Leone 2023, submitted" "" "" "" "Italy" "" "0" "" "" "" "P-0149" "00431803" "" "" "" "1" "" "04136" "Leone 2023, submitted" "" "" "" "Italy" "" "0" "" "" "" "P-0163" "00431807" "" "" "" "1" "" "04136" "Leone 2023, submitted" "" "" "" "Italy" "" "0" "" "" "" "P-0167" "00431814" "" "" "" "1" "" "04136" "Leone 2023, submitted" "" "" "" "Italy" "" "0" "" "" "" "P-0174" "00431816" "" "" "" "1" "" "04136" "Leone 2023, submitted" "" "" "" "Italy" "" "0" "" "" "" "P-0176" "00432212" "" "" "" "1" "" "04465" "{PMID:Yang 2022:36140746}" "" "?" "no" "" "00y00m" "" "" "" "" "Pat4" "00432213" "" "" "" "1" "" "04465" "{PMID:Yang 2022:36140746}" "" "?" "no" "" "00y00m" "" "" "" "" "Pat5" "00432214" "" "" "" "1" "" "04465" "{PMID:Yang 2022:36140746}" "" "?" "no" "" "00y00m" "" "" "" "" "Pat6" "00432215" "" "" "" "1" "" "04465" "{PMID:yang 2022:36140746}" "The mother, who was asymptomatic, was a mosaic carrier of the COL1A2: c.2783G>A variant" "?" "no" "" "00y00m" "" "" "" "" "Pat9" "00432216" "" "" "" "1" "" "04465" "{PMID:Yang 2022:36140746}" "" "?" "no" "" "00y00m" "" "" "" "" "Pat10" "00432232" "" "" "" "1" "" "04465" "{PMID:Nadyrshina 2022:35052464}" "" "M" "?" "Russia" ">12y" "" "" "" "" "Pat24" "00432233" "" "" "" "1" "" "04465" "{PMID:Nadyrshina 2022:35052464}" "" "M" "?" "Russia" ">20y" "" "" "" "" "Pat25" "00432234" "" "" "" "2" "" "04465" "{PMID:Nadyrshina 2022:35052464}" "" "M" "?" "Russia" ">11y" "" "" "" "" "Pat26" "00432235" "" "" "00432234" "1" "" "04465" "{PMID:Nadyrshina 2022:35052464}" "" "M" "?" "Russia" ">41y" "" "" "" "" "Pat27" "00432236" "" "" "" "1" "" "04465" "{PMID:Nadyrshina 2022:35052464}" "" "M" "?" "Russia" ">04y" "" "" "" "" "Pat29" "00432238" "" "" "" "2" "" "04465" "{PMID:Nadyrshina 2022:35052464}" "" "M" "?" "Russia" ">23y" "" "" "" "" "Pat30" "00432239" "" "" "00432238" "1" "" "04465" "{PMID:Nadyrshina 2022:35052464}" "" "F" "?" "Russia" ">52y" "" "" "" "" "Pat31" "00432240" "" "" "" "2" "" "04465" "{PMID:Nadyrshina 2022:35052464}" "" "F" "?" "Russia" ">06y" "" "" "" "" "Pat34" "00432241" "" "" "00432240" "1" "" "04465" "{PMID:Nadyrshina 2022:35052464}" "" "F" "?" "Russia" ">32y" "" "" "" "" "Pat35" "00432242" "" "" "" "1" "" "04465" "{PMID:Nadyrshina 2022:35052464}" "" "F" "?" "Russia" ">14y" "" "" "" "" "Pat36" "00432474" "" "" "" "2" "" "04465" "{PMID:Nadyrshina 2022:35052464}" "" "M" "?" "Russia" ">04y" "" "" "" "" "Pat37" "00432476" "" "" "00432474" "1" "" "04465" "{PMID:Nadyrshina 2022:35052464}" "" "M" "?" "Russia" ">45y" "" "" "" "" "Pat38" "00432485" "" "" "" "1" "" "04465" "{PMID:Nadyrshina 2022:35052464}" "" "F" "?" "Russia" ">20y" "0" "" "" "" "Pat28" "00433680" "" "" "" "1" "" "04465" "{PMID:Yang 2022:36140746}" "According to results compound heterozygous VUS variants c.556G>A and c.-220G>A were found in CANT1 gene." "?" "no" "? (unknown)" "00y" "0" "" "" "" "Pat7" "00434122" "" "" "" "1" "" "04465" "{PMID:Nadyrshina 2022:3505246}" "" "M" "?" "Russia" ">19y" "0" "" "" "Tatar ethnicity" "Pat4" "00434123" "" "" "" "2" "" "04465" "{PMID:Nadyrshina 2022:3505246}" "" "F" "?" "Russia" ">17y" "0" "" "" "" "Pat17" "00434125" "" "" "" "2" "" "04465" "{PMID:Nadyrshina 2022:3505246}" "" "M" "?" "Russia" ">34y" "0" "" "" "" "Pat32" "00434126" "" "" "00434125" "1" "" "04465" "{PMID:Nadyrshina 2022:3505246}" "" "M" "?" "Russia" ">58y" "0" "" "" "" "Pat33" "00435011" "" "" "" "1" "" "04465" "{PMID:Kalayci 2023:36398383}" "" "?" "?" "Turkey" "00y00m" "0" "" "" "" "Pat7" "00435012" "" "" "" "1" "" "04465" "{PMID:Kalayci 2023:36398383}" "" "?" "?" "Turkey" "00y00m" "0" "" "" "" "Pat8" "00435090" "" "" "" "1" "" "04419" "{PMID:Gnoli et al., 2021:34025714}" "" "F" "no" "Italy" "" "" "" "" "" "1" "00435157" "" "" "00416438" "3" "" "04298" "{PMID:Wang 2019:30829463}" "" "M" "" "China" ">35y" "" "" "" "" "" "00435158" "" "" "00416438" "3" "" "04298" "{PMID:Wang 2019:30829463}" "" "F" "" "China" ">11y" "0" "" "" "" "Pat4" "00448527" "" "" "" "1" "" "02284" "" "" "M" "no" "Italy" "" "" "" "" "" "" "00453746" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV980" "00453747" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV120" "00453748" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV036" "00453749" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV185" "00453750" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV387" "00453751" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV287" "00460974" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00465628" "" "" "" "1" "" "04854" "" "" "M" "no" "United States" "" "" "" "" "white" "" "00466766" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat53" "00466767" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat54" "00466768" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat55" "00466769" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat56" "00466770" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat57" "00466771" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat58" "00466772" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat59" "00466773" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat60" "00466774" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat61" "00466775" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat62" "00466776" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat63" "00466777" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat64" "00466778" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat65" "00466779" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat66" "00466780" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat67" "00466781" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat68" "00466782" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat69" "00466783" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat70" "00466784" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat71" "00466785" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat72" "00466786" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat73" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2712 "{{individualid}}" "{{diseaseid}}" "00080921" "00636" "00104012" "03381" "00105906" "05296" "00131877" "01481" "00132061" "00637" "00132062" "00636" "00132063" "00636" "00132773" "05296" "00265729" "00169" "00265732" "00169" "00265733" "00169" "00265738" "00169" "00265739" "00169" "00265740" "00169" "00265741" "00169" "00294516" "00198" "00294517" "00198" "00294518" "00198" "00299938" "01481" "00299939" "01481" "00299961" "05296" "00299962" "05296" "00299963" "05296" "00299964" "05296" "00299965" "05296" "00299966" "05296" "00299967" "05296" "00299968" "05296" "00299969" "05296" "00299970" "05296" "00299971" "05296" "00299972" "05296" "00299973" "05296" "00299974" "05296" "00299975" "05296" "00299976" "05296" "00299977" "05296" "00299978" "05296" "00299979" "05296" "00299980" "05296" "00300364" "05296" "00300365" "05296" "00300366" "05296" "00300367" "05296" "00300368" "05296" "00300369" "05296" "00300370" "05296" "00300371" "05296" "00300372" "05296" "00300373" "05296" "00300405" "05296" "00300406" "05296" "00300407" "05296" "00300408" "05296" "00300409" "05296" "00300410" "05296" "00300411" "05296" "00300412" "05296" "00300413" "05296" "00300414" "05296" "00300415" "05296" "00300416" "05296" "00300417" "05296" "00300418" "05296" "00300419" "05296" "00300420" "05296" "00300421" "05296" "00300422" "05296" "00300423" "05296" "00306112" "05296" "00320168" "00198" "00320567" "00635" "00320567" "05296" "00320574" "01481" "00320574" "05296" "00322824" "00635" "00322824" "05296" "00322825" "05296" "00322826" "00169" "00322827" "00198" "00322828" "05296" "00322829" "05296" "00322830" "00169" "00322831" "01481" "00322831" "05296" "00322832" "00169" "00322832" "00634" "00322833" "00169" "00322833" "00634" "00322834" "00169" "00322834" "00634" "00322835" "00169" "00322835" "00634" "00322836" "00169" "00322836" "00634" "00322837" "00169" "00322837" "00634" "00322838" "00169" "00322838" "00634" "00322839" "00198" "00322840" "00169" "00322840" "00634" "00322841" "00169" "00322841" "00634" "00322842" "00169" "00322842" "00634" "00322843" "00169" "00322843" "00634" "00322844" "00169" "00322844" "00634" "00322845" "00169" "00322845" "00634" "00322846" "00169" "00322846" "00634" "00322847" "00169" "00322847" "00634" "00322848" "00169" "00322848" "00634" "00322849" "00169" "00322849" "00634" "00322850" "00169" "00322850" "00634" "00322851" "00169" "00322851" "00634" "00322852" "00169" "00322852" "00634" "00322853" "00169" 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"00431778" "05296" "00431789" "05296" "00431803" "00198" "00431807" "05296" "00431814" "05296" "00431816" "05296" "00432212" "05296" "00432213" "05296" "00432214" "05296" "00432215" "05296" "00432216" "05296" "00432232" "00635" "00432233" "01481" "00432234" "01481" "00432235" "01481" "00432236" "01481" "00432238" "00636" "00432239" "00636" "00432240" "00636" "00432241" "00636" "00432242" "01481" "00432474" "00635" "00432476" "00635" "00432485" "01481" "00433680" "05296" "00434122" "01481" "00434123" "01481" "00434125" "00635" "00434126" "00635" "00435011" "00637" "00435012" "00637" "00435090" "00169" "00435090" "05296" "00435157" "05296" "00435158" "05296" "00448527" "00169" "00453746" "00152" "00453747" "00152" "00453748" "00152" "00453749" "00152" "00453750" "00152" "00453751" "00152" "00460974" "00198" "00465628" "05118" "00466766" "05296" "00466767" "05296" "00466768" "05296" "00466769" "05296" "00466770" "05296" "00466771" "05296" "00466772" "05296" "00466773" "05296" "00466774" "05296" "00466775" "05296" "00466776" "05296" "00466777" "05296" "00466778" "05296" "00466779" "05296" "00466780" "05296" "00466781" "05296" "00466782" "05296" "00466783" "05296" "00466784" "05296" "00466785" "05296" "00466786" "05296" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00152, 00169, 00198, 00239, 00443, 00634, 00635, 00636, 00637, 00638, 01481, 01484, 03381, 05118, 05296, 05517, 05784, 06987 ## Count = 294 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Hearing/Problems}}" "{{Phenotype/Enzyme/CreatineKinase}}" "{{Phenotype/Muscle/Electromyography}}" "{{Phenotype/Muscle/Biopsy}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000060490" "00636" "00080921" "01758" "Isolated (sporadic)" "" "Osteogenesis imperfecta, type III (OMIM:259420)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081946" "03381" "00104012" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000083823" "05296" "00105906" "02120" "Familial, X-linked dominant" "" "osteogenesis imperfecta, fractures beginning during gestation, shortstature, white sclerae, variable scoliosis and pectal deformity,, striking tibial anterior angulation and generalized osteopenia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000104266" "00637" "00132061" "01396" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000104267" "00636" "00132062" "01396" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000104268" "00636" "00132063" "01396" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000203514" "00169" "00265729" "02544" "Unknown" "19y" "" "" "" "" "" "" "19y" "" "" "" "" "" "" "osteogenesis imperfecta/Ehlers-Danlos syndrome overlap" "suspected EDS" "" "0000203517" "00169" "00265732" "02544" "Unknown" "03y" "long face, mild facial asymmetry, mild left esotropia, blue sclerae, soft and doughy skin all over the body, mild skin hyperextensibility of the limbs, hypermobility of the fingers and knees (Beighton score 6/8), accentuated dorsal kyphosis, flatfeet with extreme pronation of the hindfoot, genua valga, bilateral hallux valgus, and underdevelopment of the leg muscles" "" "" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta/Ehlers-Danlos syndrome overlap" "suspected EDS" "" "0000203518" "00169" "00265733" "02544" "Unknown" "30y" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta/Ehlers-Danlos syndrome overlap" "suspected EDS" "" "0000203524" "00169" "00265738" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta/Ehlers-Danlos syndrome overlap" "suspected EDS" "" "0000203525" "00169" "00265739" "02544" "Familial" "13y" "EDS-related features. OI-related features were limited to mildly reduced bone mass, occasional fractures and short stature" "" "" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta/Ehlers-Danlos syndrome overlap" "suspected EDS" "" "0000203527" "00169" "00265740" "02544" "Unknown" "21y" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta/Ehlers-Danlos syndrome overlap" "suspected EDS" "" "0000203528" "00169" "00265741" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta/Ehlers-Danlos syndrome overlap" "suspected EDS" "" "0000227259" "01481" "00299938" "03235" "Unknown" "0y" "mild; blue sclera (HP:0000592); no deafness (-HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "osteogenesis imperfecta" "" "0000227260" "01481" "00299939" "03235" "Unknown" "8y" "mild; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); no deafness (-HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "osteogenesis imperfecta" "" "0000227282" "05296" "00299961" "03235" "Unknown" "7y" "moderate/severe; blue sclera (HP:0000592); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "osteogenesis imperfecta" "" "0000227283" "05296" "00299962" "03235" "Unknown" "33y" "moderate/severe; blue sclera (HP:0000592); dentinogenesis imperfecta (HP:0000703); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "osteogenesis imperfecta" "" "0000227284" "05296" "00299963" "03235" "Unknown" "0y" "moderate/severe; blue sclera (HP:0000592); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "osteogenesis imperfecta" "" "0000227285" "05296" "00299964" "03235" "Unknown" "0y" "moderate/severe; deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "osteogenesis imperfecta" "" "0000227286" "05296" "00299965" "03235" "Unknown" "1y" "moderate/severe; blue sclera (HP:0000592); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "osteogenesis imperfecta" "" "0000227287" "05296" "00299966" "03235" "Unknown" "13y" "moderate/severe; blue sclera (HP:0000592); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "osteogenesis imperfecta" "" "0000227288" "05296" "00299967" "03235" "Unknown" "0y" "moderate/severe; no blue sclera (-HP:0000592); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "osteogenesis imperfecta" "" "0000227289" "05296" "00299968" "03235" "Unknown" "0y" "moderate/severe; deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "osteogenesis imperfecta" "" "0000227290" "05296" "00299969" "03235" "Unknown" "13y" "moderate/severe; deformities lower extremity;" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "osteogenesis imperfecta" "" "0000227291" "05296" "00299970" "03235" "Unknown" "50y" "moderate/severe; deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "osteogenesis imperfecta" "" "0000227292" "05296" "00299971" "03235" "Unknown" "0y" "moderate/severe; deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "osteogenesis imperfecta" "" "0000227293" "05296" "00299972" "03235" "Unknown" "3y" "moderate/severe; no blue sclera (-HP:0000592); deformities lower extremity; no recurrent fractures (-HP:0002757); bone fragility (-HP:0002659)" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "osteogenesis imperfecta" "" "0000227294" "05296" "00299973" "03235" "Unknown" "1y" "moderate/severe; deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "osteogenesis imperfecta" "" "0000227295" "05296" "00299974" "03235" "Unknown" "7y" "moderate/severe; no blue sclera (-HP:0000592); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "osteogenesis imperfecta" "" "0000227296" "05296" "00299975" "03235" "Unknown" "13y" "moderate/severe; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "osteogenesis imperfecta" "" "0000227297" "05296" "00299976" "03235" "Unknown" "0y" "moderate/severe; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); no deafness (-HP:0000365); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "osteogenesis imperfecta" "" "0000227298" "05296" "00299977" "03235" "Unknown" "0y" "moderate/severe; deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "osteogenesis imperfecta" "" "0000227299" "05296" "00299978" "03235" "Unknown" "42y" "moderate/severe; blue sclera (HP:0000592); dentinogenesis imperfecta (HP:0000703); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "osteogenesis imperfecta" "" "0000227300" "05296" "00299979" "03235" "Unknown" "0y" "moderate/severe; deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "osteogenesis imperfecta" "" "0000227301" "05296" "00299980" "03235" "Unknown" "1y" "moderate/severe; blue sclera (HP:0000592); dentinogenesis imperfecta (HP:0000703); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "osteogenesis imperfecta" "" "0000227672" "05296" "00300364" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogeneis imperfecta type I" "" "0000227673" "05296" "00300365" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogeneis imperfecta type III" "" "0000227674" "05296" "00300366" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogeneis imperfecta type III" "" "0000227675" "05296" "00300367" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogeneis imperfecta type I" "" "0000227676" "05296" "00300368" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogeneis imperfecta type IV" "" "0000227677" "05296" "00300369" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogeneis imperfecta type III" "" "0000227678" "05296" "00300370" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogeneis imperfecta type III" "" "0000227679" "05296" "00300371" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogeneis imperfecta type I" "" "0000227680" "05296" "00300372" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogeneis imperfecta type III" "" "0000227681" "05296" "00300373" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogeneis imperfecta type IV" "" "0000227713" "05296" "00300405" "00006" "Familial, autosomal dominant" "5y4m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta type IV" "" "0000227714" "05296" "00300406" "00006" "Familial, autosomal dominant" "10y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta type IV" "" "0000227715" "05296" "00300407" "00006" "Familial, autosomal dominant" "13y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta type III" "" "0000227716" "05296" "00300408" "00006" "Familial, autosomal dominant" "12y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta type I" "" "0000227717" "05296" "00300409" "00006" "Familial, autosomal dominant" "1y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta type III" "" "0000227718" "05296" "00300410" "00006" "Familial, autosomal dominant" "1y4m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta type III" "" "0000227719" "05296" "00300411" "00006" "Familial, autosomal dominant" "40y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta type I" "" "0000227720" "05296" "00300412" "00006" "Familial, autosomal dominant" "16y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta type IV" "" "0000227721" "05296" "00300413" "00006" "Familial, autosomal dominant" "14y10m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta type IV" "" "0000227722" "05296" "00300414" "00006" "Familial, autosomal dominant" "22y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta type IV" "" "0000227723" "05296" "00300415" "00006" "Familial, autosomal dominant" "3y10m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta type IV" "" "0000227724" "05296" "00300416" "00006" "Familial, autosomal dominant" "11y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta type III" "" "0000227725" "05296" "00300417" "00006" "Familial, autosomal dominant" "11y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta type I" "" "0000227726" "05296" "00300418" "00006" "Familial, autosomal dominant" "4y10m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta type III" "" "0000227727" "05296" "00300419" "00006" "Familial, autosomal dominant" "3y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta type I" "" "0000227728" "05296" "00300420" "00006" "Familial, autosomal dominant" "12y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta type III" "" "0000227729" "05296" "00300421" "00006" "Familial, autosomal dominant" "16y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta type I" "" "0000227730" "05296" "00300422" "00006" "Familial, autosomal dominant" "18y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta type III" "" "0000227731" "05296" "00300423" "00006" "Familial, autosomal dominant" "13y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta type III" "" "0000231953" "05296" "00306112" "03729" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242214" "00198" "00320168" "01807" "Unknown" "" "Skeletal dysplasia (HP:0002652)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242613" "00169" "00322830" "03883" "-" "" "Osteogenesis imperfecta/Ehlers-Danlos syndrome overlap," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242614" "05296" "00322831" "03869" "-" "" "Osteogenesis imperfacta Type 1, subtype B (absence of dentinogenesis imperfecta)," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242615" "00169" "00322838" "00085" "-" "" "Osteogenesis imperfecta/Ehlers-Danlos syndrome overlap," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242616" "05296" "00322859" "00085" "-" "" "Osteogenesis imperfacta Type 1, subtype B (absence of dentinogenesis imperfecta)," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242617" "00169" "00322860" "03878" "-" "" "Osteogenesis imperfecta/Ehlers-Danlos syndrome overlap," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242618" "05296" "00322862" "03879" "-" "" "Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta)," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242619" "05296" "00322863" "03879" "-" "" "Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta)," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242620" "00169" "00322864" "03883" "-" "" "Osteogenesis imperfecta/Ehlers-Danlos syndrome overlap," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242621" "00169" "00322865" "01819" "-" "" "Osteogenesis imperfecta/Ehlers-Danlos syndrome overlap," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242622" "00169" "00322866" "01819" "-" "" "Osteogenesis imperfecta/Ehlers-Danlos syndrome overlap," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242623" "00169" "00322867" "03879" "-" "" "Osteogenesis imperfecta/Ehlers-Danlos syndrome overlap," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242624" "00169" "00322890" "00085" "-" "" "Osteogenesis imperfecta/Ehlers-Danlos syndrome overlap," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242625" "00169" "00322892" "01819" "-" "" "Osteogenesis imperfecta/Ehlers-Danlos syndrome overlap," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242626" "00169" "00322893" "00085" "-" "" "Osteogenesis imperfecta/Ehlers-Danlos syndrome overlap," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242627" "05296" "00322895" "00085" "-" "" "Osteogenesis imperfacta Type 1, subtype B (absence of dentinogenesis imperfecta)," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242628" "00169" "00322897" "00085" "-" "" "Osteogenesis imperfecta/Ehlers-Danlos syndrome overlap," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242629" "00169" "00322903" "00085" "-" "" "Osteogenesis imperfecta/Ehlers-Danlos syndrome overlap," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242630" "05296" "00322931" "03879" "-" "" "Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta)," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242631" "05296" "00322932" "03879" "-" "" "Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta)," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242632" "05296" "00322933" "03879" "-" "" "Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta)," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242633" "05296" "00322934" "03879" "-" "" "Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta)," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242634" "00169" "00322949" "01819" "-" "" "Osteogenesis imperfecta/Ehlers-Danlos syndrome overlap," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242635" "05296" "00322964" "03879" "-" "" "Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta)," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242636" "00169" "00322989" "01819" "-" "" "Osteogenesis imperfecta/Ehlers-Danlos syndrome overlap," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242637" "05296" "00322996" "03852" "-" "" "Osteogenesis imperfacta Type 1, subtype B (absence of dentinogenesis imperfecta)," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242638" "05296" "00323027" "03869" "-" "" "Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta)," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242639" "05296" "00323028" "03879" "-" "" "Osteogenesis imperfacta Type 1, subtype B (absence of dentinogenesis imperfecta)," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242640" "05296" "00323029" "03879" "-" "" "Osteogenesis imperfacta Type 1, subtype B (absence of dentinogenesis imperfecta)," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242641" "05296" "00323080" "03879" "-" "" "Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta)," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242642" "05296" "00323091" "03879" "-" "" "Osteogenesis imperfacta Type 1, subtype B (absence of dentinogenesis imperfecta)," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242643" "05296" "00323103" "03879" "-" "" "Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta)," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242644" "05296" "00323104" "03879" "-" "" "Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta)," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242645" "05296" "00323237" "03879" "-" "" "Osteogenesis imperfacta Type 1, subtype B (absence of dentinogenesis imperfecta)," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242646" "05296" "00323239" "03879" "-" "" "Osteogenesis imperfacta Type 1, subtype B (absence of dentinogenesis imperfecta)," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242647" "05296" "00323240" "03879" "-" "" "Osteogenesis imperfacta Type 1, subtype B (absence of dentinogenesis imperfecta)," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242648" "05296" "00323241" "03879" "-" "" "Osteogenesis imperfacta Type 1, subtype B (absence of dentinogenesis imperfecta)," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242649" "05296" "00323345" "03879" "-" "" "Osteogenesis imperfacta Type 1, subtype B (absence of dentinogenesis imperfecta)," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242650" "05296" "00323358" "00085" "-" "" "Osteogenesis imperfecta Type 2, subtype A," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242651" "05296" "00323364" "03879" "-" "" "Osteogenesis imperfecta type 4, subtype B," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242652" "00169" "00323379" "00085" "-" "" "Osteogenesis imperfecta/Ehlers-Danlos syndrome overlap," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242653" "05296" "00323410" "03879" "-" "" "Osteogenesis imperfecta type 4, subtype B," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242654" "05296" "00323469" "00085" "-" "" "Osteogenesis imperfecta Type 2, subtype A," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242655" "05296" "00323487" "00085" "-" "" "Osteogenesis imperfecta Type 2, subtype B," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242656" "05296" "00323510" "03879" "-" "" "Osteogenesis imperfacta Type 1, subtype B (absence of dentinogenesis imperfecta)," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242657" "05296" "00323514" "00085" "-" "" "Osteogenesis imperfecta Type 2, subtype A," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242658" "00169" "00323539" "03704" "-" "" "Osteogenesis imperfecta/Ehlers-Danlos syndrome overlap," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242659" "00198" "00323596" "00085" "-" "" "Unclassified connective tissue disorder," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242660" "05296" "00323657" "03879" "-" "" "Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta)," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242661" "05296" "00323658" "03879" "-" "" "Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta)," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242662" "05296" "00323661" "00475" "-" "" "Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta)," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242663" "05296" "00323731" "00085" "-" "" "Osteogenesis imperfecta Type 2, subtype A," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242664" "05296" "00323861" "00085" "-" "" "Osteogenesis imperfecta Type 2, subtype B," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242665" "00169" "00323958" "00085" "-" "" "Osteogenesis imperfecta/Ehlers-Danlos syndrome overlap," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242666" "05296" "00323993" "03855" "-" "" "Osteogenesis imperfecta Type 2, subtype A," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242667" "05296" "00324011" "03879" "-" "" "Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta)," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242668" "00169" "00324052" "03865" "-" "" "Osteogenesis imperfecta/Ehlers-Danlos syndrome overlap," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242669" "00169" "00324064" "03878" "-" "" "Osteogenesis imperfecta/Ehlers-Danlos syndrome overlap," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000245717" "05296" "00327428" "00006" "Isolated (sporadic)" "1y" "" "" "" "" "" "" "" "" "" "" "" "" "" "OI-4" "osteogenesis imperfecta" "" "0000245728" "05296" "00327439" "00006" "Unknown" "16y" "" "" "" "" "" "" "" "" "" "" "" "" "" "OI-4" "osteogenesis imperfecta" "" "0000245729" "05296" "00327440" "00006" "Unknown" "42y" "" "" "" "" "" "" "" "" "" "" "" "" "" "OI-4" "osteogenesis imperfecta" "" "0000245730" "05296" "00327441" "00006" "Unknown" "10y" "" "" "" "" "" "" "" "" "" "" "" "" "" "OI-1" "osteogenesis imperfecta" "" "0000245731" "05296" "00327442" "00006" "Unknown" "15y" "" "" "" "" "" "" "" "" "" "" "" "" "" "OI-4" "osteogenesis imperfecta" "" "0000245732" "05296" "00327443" "00006" "Unknown" "3y" "" "" "" "" "" "" "" "" "" "" "" "" "" "OI-4" "osteogenesis imperfecta" "" "0000245733" "05296" "00327444" "00006" "Unknown" "0y" "" "" "" "" "" "" "" "" "" "" "" "" "" "OI-2" "osteogenesis imperfecta" "" "0000245734" "05296" "00327445" "00006" "Isolated (sporadic)" "1y" "" "" "" "" "" "" "" "" "" "" "" "" "" "OI-4" "osteogenesis imperfecta" "" "0000245735" "05296" "00327446" "00006" "Isolated (sporadic)" "1y" "" "" "" "" "" "" "" "" "" "" "" "" "" "OI-1" "osteogenesis imperfecta" "" "0000245744" "05296" "00327455" "00006" "Unknown" "5y" "" "" "" "" "" "" "" "" "" "" "" "" "" "OI-14" "osteogenesis imperfecta" "" "0000249564" "05517" "00331372" "00000" "Familial, autosomal dominant" "" "Reduced bone mineral density, Bowing of the long bones" "" "" "" "" "" "" "" "" "" "" "" "" "Osteogenesis imperfecta and decreased bone density group" "skeletal dysplasia" "" "0000249565" "05517" "00331373" "00000" "Familial, autosomal dominant" "" "Recurrent fractures, Triangular face, Blue sclerae, Micrognathia, High, narrow palate" "" "" "" "" "" "" "" "" "" "" "" "" "Osteogenesis imperfecta and decreased bone density group" "skeletal dysplasia" "" "0000249566" "05517" "00331374" "00000" "Familial, autosomal dominant" "" "Recurrent fractures, Multiple prenatal fractures, Blue sclerae, Small face" "" "" "" "" "" "" "" "" "" "" "" "" "Osteogenesis imperfecta and decreased bone density group" "skeletal dysplasia" "" "0000249567" "05517" "00331375" "00000" "Familial, autosomal dominant" "" "Recurrent fractures, Osteoporosis" "" "" "" "" "" "" "" "" "" "" "" "" "Osteogenesis imperfecta and decreased bone density group" "skeletal dysplasia" "" "0000249568" "05517" "00331376" "00000" "Familial, autosomal dominant" "" "Recurrent fractures, Triangular face, Abnormality of the dentition" "" "" "" "" "" "" "" "" "" "" "" "" "Osteogenesis imperfecta and decreased bone density group" "skeletal dysplasia" "" "0000254921" "05517" "00359648" "00006" "Isolated (sporadic)" "<0d" "24w+6-fetus short long bones, femur length 29.4 mm, humerus length 17 mm" "" "" "" "" "" "" "" "" "" "" "" "" "" "fetal skeletal dysplasia" "" "0000254923" "05517" "00359650" "00006" "Familial, autosomal dominant" "<0d" "19w-fetus short long bones with fracture, short rib, wide orbilal septum" "" "" "" "" "" "" "" "" "" "" "" "" "" "fetal skeletal dysplasia" "" "0000254929" "05517" "00359656" "00006" "Isolated (sporadic)" "<0d" "25w-fetus short and curved long bones" "" "" "" "" "" "" "" "" "" "" "" "" "" "fetal skeletal dysplasia" "" "0000257286" "00637" "00361893" "04046" "Isolated (sporadic)" "" "respiratory support from birth; most radiological and clinical features consistent with type 2 OI (some features more consistent with type 3); died at 11 weeks of age from respiratory failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "OI type 2" "" "0000281251" "05296" "00323796" "03894" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OI3" "osteogenesis imperfecta" "" "0000281252" "05296" "00323315" "03894" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OI3" "osteogenesis imperfecta" "" "0000290494" "05296" "00397355" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "OI-I" "osteogenesis imperfecta" "" "0000290502" "05296" "00397363" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "OI-III" "osteogenesis imperfecta" "" "0000290503" "05296" "00397364" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "OI-III" "osteogenesis imperfecta" "" "0000290505" "05296" "00397366" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "OI-III" "osteogenesis imperfecta" "" "0000290507" "05296" "00397368" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "OI-III" "osteogenesis imperfecta" "" "0000290511" "05296" "00397372" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "OI-IV" "osteogenesis imperfecta" "" "0000290512" "05296" "00397373" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "OI-IV" "osteogenesis imperfecta" "" "0000290514" "05296" "00397375" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "OI-IV" "osteogenesis imperfecta" "" "0000290516" "05296" "00397377" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "OI-IV" "osteogenesis imperfecta" "" "0000292408" "05296" "00399291" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OI1" "osteogenesis imperfecta" "" "0000292410" "05296" "00399293" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OI3" "osteogenesis imperfecta" "" "0000308219" "00635" "00416499" "03528" "Unknown" "" "Moderate OI (type IV)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000308526" "00169" "00417016" "02544" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "arthrochalasia Ehlers-Danlos syndrome" "" "0000308531" "00198" "00417021" "02544" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "COL1-related overlap disorder" "" "0000308532" "00169" "00417022" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "cardiac valvular Ehlers-Danlos syndrome" "" "0000308544" "00198" "00417034" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308549" "00198" "00417039" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308553" "00198" "00417043" "02544" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "COL1-related overlap disorder" "" "0000308559" "00198" "00417049" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308568" "00198" "00417058" "02544" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308571" "00198" "00417061" "02544" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308573" "00198" "00417063" "02544" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308593" "05296" "00417083" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "" "0000308595" "00198" "00417085" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308596" "00198" "00417086" "02544" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308597" "00198" "00417087" "02544" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308600" "05296" "00417090" "02544" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "" "0000308613" "05296" "00417103" "02544" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "" "0000308616" "05296" "00417106" "02544" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "" "0000308629" "00198" "00417119" "02544" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308632" "00198" "00417122" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308634" "00198" "00417124" "02544" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308642" "05296" "00417132" "02544" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "" "0000308645" "05296" "00417135" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "" "0000308646" "00198" "00417136" "02544" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308652" "05296" "00417142" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "" "0000308659" "05296" "00417149" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "" "0000308660" "00198" "00417150" "02544" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "COL1-related overlap disorder" "" "0000308669" "05296" "00417159" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "" "0000315811" "00169" "00424613" "02284" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "COL1-related overlap disorder" "" "" "0000318868" "05296" "00427923" "03820" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "OI I" "" "0000318869" "05296" "00427924" "03820" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "OI I" "" "0000318870" "05296" "00427925" "03820" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "OI III" "" "0000318871" "05296" "00427926" "03820" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "OI III" "" "0000318872" "05296" "00427927" "03820" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "OI I/IV" "" "0000318873" "05296" "00427928" "03820" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "OI III" "" "0000318874" "05296" "00427929" "03820" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "OI III" "" "0000318875" "05296" "00427930" "03820" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "OI III" "" "0000318876" "05296" "00427931" "03820" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "OI III" "" "0000318877" "05296" "00427932" "03820" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "OI IV" "" "0000318878" "05296" "00427933" "03820" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "OI IV" "" "0000318879" "05296" "00427934" "03820" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "OI I" "" "0000318880" "05296" "00427935" "03820" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "OI IV " "" "0000318881" "05296" "00427936" "03820" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "OI III" "" "0000318882" "05296" "00427937" "03820" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "OI III" "" "0000318883" "05296" "00427938" "03820" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "OI IV" "" "0000318884" "05296" "00427939" "03820" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "OI III" "" "0000318885" "05296" "00427940" "03820" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "OI I/IV" "" "0000318886" "05296" "00427941" "03820" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "OI IV" "" "0000318887" "05296" "00427942" "03820" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "OI IV" "" "0000318888" "05296" "00427943" "03820" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "OI III" "" "0000318889" "05296" "00427944" "03820" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "OI I" "" "0000318890" "05296" "00427945" "03820" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "OI IV " "" "0000318891" "05296" "00427946" "03820" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "OI III" "" "0000318892" "05296" "00427947" "03820" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "OI I" "" "0000318893" "05296" "00427948" "03820" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "OI IV" "" "0000318894" "05296" "00427949" "03820" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "OI III" "" "0000318895" "05296" "00427950" "03820" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "OI III" "" "0000318896" "05296" "00427951" "03820" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "OI III" "" "0000318897" "05296" "00427952" "03820" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "OI III" "" "0000318898" "05296" "00427953" "03820" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OI" "OI I" "" "0000318994" "00169" "00428048" "04419" "Unknown" "05y" "loose joints, stretchy skin, abnormal dentin." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000318995" "00636" "00428048" "04419" "Familial" "05y" "Bradydactyly, abnormal dentin, abnormal craniofacial features." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321764" "05784" "00431155" "04305" "Unknown" "" "Meets major criteria. Dislocation of joints, arthralgias, delayed wound healing, GERD, IBD, scoliosis, osteoporosis, osteomalacia." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321765" "05784" "00431156" "04305" "Unknown" "" "Meets major criteria. Hx of collarbone fracture, pectus carinatum, blue sclera, valgus knees." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321766" "05784" "00431157" "04305" "Unknown" "" "Meets major criteria. Dislocation of joints, arthralgias, delayed wound healing, Hx of hand fracture, pectus carinatum, POTS, IBD, hyperalgesia." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321767" "05784" "00431158" "04305" "Unknown" "" "Meets major criteria. Joint dislocations, delayed wound healing, arthralgias, GERD, IBS." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321768" "05784" "00431159" "04305" "Unknown" "" "Skin hyper-extensibility, generalized joint hypermobility. GERD, Hx of hernia." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321769" "05784" "00431160" "04305" "Unknown" "" "Skin hyper-extensibility, generalized joint hypermobility. Easy bruising, gothic palate." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321949" "05296" "00431355" "04465" "Isolated (sporadic)" "" "" ">06y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321950" "00636" "00431357" "04465" "Familial, autosomal recessive" "17y" "see paper; ..., recurrent bone fractures, short stature, blue sclerae, triangular face, missing teeth, dentinogenesis imperfecta , skeletal deformities, scoliosis" "" "" "" "" "" "" "" "" "" "" "" "" "OI3" "" "" "0000321952" "06987" "00431355" "00006" "Familial, autosomal dominant" "" "combined pituitary hormone deficiency" "" "" "" "" "" "" "" "" "" "" "" "" "CPHD4" "combined pituitary hormone deficiency" "" "0000321953" "00198" "00431359" "00006" "Familial, autosomal dominant" "" "dentinogenesis imperfecta, no osteogenesis imperfecta" "" "" "" "" "" "" "" "" "" "" "" "" "" "dentinogenesis imperfecta" "" "0000322343" "05296" "00431775" "04465" "Familial" "55y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000322345" "05296" "00431777" "04465" "Unknown" "20y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000322346" "05296" "00431778" "04465" "Isolated (sporadic)" "05y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000322358" "05296" "00431789" "04136" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "" "0000322372" "00198" "00431803" "04136" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "unclassified Mendelian soft connective tissue disorder" "" "0000322376" "05296" "00431807" "04136" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "" "0000322383" "05296" "00431814" "04136" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "" "0000322385" "05296" "00431816" "04136" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "" "0000322779" "05296" "00432212" "04465" "Isolated (sporadic)" "0m0y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000322780" "05296" "00432213" "04465" "Isolated (sporadic)" "0m0y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000322781" "05296" "00432214" "04465" "Isolated (sporadic)" "0m0y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000322782" "05296" "00432215" "04465" "Familial" "0m0y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000322783" "05296" "00432216" "04465" "Isolated (sporadic)" "0m0y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000322799" "00635" "00432232" "04465" "Unknown" "12y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000322800" "01481" "00432233" "04465" "Unknown" "20y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000322801" "01481" "00432234" "04465" "Familial, autosomal dominant" "11y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000322802" "01481" "00432235" "04465" "Familial, autosomal dominant" "41y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000322803" "01481" "00432236" "04465" "Isolated (sporadic)" "04y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000322804" "00636" "00432238" "04465" "Familial, autosomal dominant" "23y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000322806" "00636" "00432239" "04465" "Familial, autosomal dominant" "52y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000322807" "00636" "00432240" "04465" "Familial, autosomal dominant" "06y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000322808" "00636" "00432241" "04465" "Familial, autosomal dominant" "32y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000322809" "01481" "00432242" "04465" "Isolated (sporadic)" "14y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000323037" "00635" "00432474" "04465" "Familial, autosomal dominant" "04y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000323038" "00635" "00432476" "04465" "Familial, autosomal dominant" "45y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000323047" "01481" "00432485" "04465" "Unknown" "20y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000324103" "05296" "00433680" "04465" "Isolated (sporadic)" "00y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000324476" "01481" "00434122" "04465" "Isolated (sporadic)" "19y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000324477" "01481" "00434123" "04465" "Familial, autosomal dominant" "17y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000324479" "00635" "00434125" "04465" "Familial, autosomal dominant" "34y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000324480" "00635" "00434126" "04465" "Familial, autosomal dominant" "58y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000325251" "00637" "00435011" "04465" "Unknown" "00y00m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000325252" "00637" "00435012" "04465" "Unknown" "00y00m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000325328" "00169" "00435090" "04419" "Familial" "30y" "hypermobility, Beighton score of 9/9, mild high frequency hearing loss, recurrent joint dislocations." "19y" "high frequency" "" "" "" "" "" "" "" "" "" "" "23y" "EDS" "" "0000325329" "05296" "00435090" "04419" "Familial" "" "Mother has mild OI symptoms and was diagnosed after molecular testing." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000325363" "01481" "00431210" "04298" "Familial" ">66" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000325364" "05296" "00435157" "04298" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000325365" "05296" "00435158" "04298" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337702" "00169" "00448527" "02284" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000342403" "00152" "00453746" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000342404" "00152" "00453747" "00006" "Unknown" "" "Ehlers-Danlos syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000342405" "00152" "00453748" "00006" "Unknown" "" "aortic valve repair and ascending aortic replacement; large ascending aneurysm" "" "" "" "" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000342406" "00152" "00453749" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000342407" "00152" "00453750" "00006" "Unknown" "" "aortic valvuloplasty" "" "" "" "" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000342408" "00152" "00453751" "00006" "Unknown" "" "coarctation, atrial septal defect" "" "" "" "" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000351171" "05118" "00465628" "04854" "Familial, autosomal dominant" "77" "77 yo male with iliac artery aneurysms bilaterally, aortic tortuosity, small VSD, mild pulmonary hypertension, mild (4.1 cm) aortic root. NO EDS or OI features. EVAR repair done due to size and rupture risk. Father had surgically repaired AAA after age 60, 2 brothers (> age 60) both have iliac aneurysms, once s/p surgical repair." "" "" "" "" "" "77" "dyspnea" "COL1A2" "" "" "" "" "familial iliac artery aneurysm" "familial iliac artery aneurysm" "" "0000352129" "05296" "00466766" "00006" "Isolated (sporadic)" "" "OI1 classic non-deforming osteogenesis imperfecta, blue sclerae" "" "" "" "" "" "" "" "" "" "" "" "" "OI1" "osteogenesis imperfecta" "" "0000352130" "05296" "00466767" "00006" "Familial, autosomal dominant" "" "OI4 common variable osteogenesis imperfecta, normal sclerae" "" "" "" "" "" "" "" "" "" "" "" "" "OI4" "osteogenesis imperfecta" "" "0000352131" "05296" "00466768" "00006" "Isolated (sporadic)" "" "OI4 common variable osteogenesis imperfecta, normal sclerae" "" "" "" "" "" "" "" "" "" "" "" "" "OI4" "osteogenesis imperfecta" "" "0000352132" "05296" "00466769" "00006" "Isolated (sporadic)" "" "OI4 common variable osteogenesis imperfecta, normal sclerae" "" "" "" "" "" "" "" "" "" "" "" "" "OI4" "osteogenesis imperfecta" "" "0000352133" "05296" "00466770" "00006" "Isolated (sporadic)" "" "OI3 progressively deforming osteogenesis imperfecta" "" "" "" "" "" "" "" "" "" "" "" "" "OI3" "osteogenesis imperfecta" "" "0000352134" "05296" "00466771" "00006" "Isolated (sporadic)" "" "OI3 progressively deforming osteogenesis imperfecta" "" "" "" "" "" "" "" "" "" "" "" "" "OI3" "osteogenesis imperfecta" "" "0000352135" "05296" "00466772" "00006" "Familial, autosomal dominant" "" "OI1 classic non-deforming osteogenesis imperfecta, blue sclerae" "" "" "" "" "" "" "" "" "" "" "" "" "OI1" "osteogenesis imperfecta" "" "0000352136" "05296" "00466773" "00006" "Familial, autosomal dominant" "" "OI4 common variable osteogenesis imperfecta, normal sclerae" "" "" "" "" "" "" "" "" "" "" "" "" "OI4" "osteogenesis imperfecta" "" "0000352137" "05296" "00466774" "00006" "Isolated (sporadic)" "" "OI3 progressively deforming osteogenesis imperfecta" "" "" "" "" "" "" "" "" "" "" "" "" "OI3" "osteogenesis imperfecta" "" "0000352138" "05296" "00466775" "00006" "Familial, autosomal dominant" "" "OI3 progressively deforming osteogenesis imperfecta" "" "" "" "" "" "" "" "" "" "" "" "" "OI3" "osteogenesis imperfecta" "" "0000352139" "05296" "00466776" "00006" "Isolated (sporadic)" "" "OI4 common variable osteogenesis imperfecta, normal sclerae" "" "" "" "" "" "" "" "" "" "" "" "" "OI4" "osteogenesis imperfecta" "" "0000352140" "05296" "00466777" "00006" "Familial, autosomal dominant" "" "OI4 common variable osteogenesis imperfecta, normal sclerae" "" "" "" "" "" "" "" "" "" "" "" "" "OI4" "osteogenesis imperfecta" "" "0000352141" "05296" "00466778" "00006" "Isolated (sporadic)" "" "OI3 progressively deforming osteogenesis imperfecta" "" "" "" "" "" "" "" "" "" "" "" "" "OI3" "osteogenesis imperfecta" "" "0000352142" "05296" "00466779" "00006" "Isolated (sporadic)" "" "OI2 perinatally lethal" "" "" "" "" "" "" "" "" "" "" "" "" "OI2" "osteogenesis imperfecta" "" "0000352143" "05296" "00466780" "00006" "Isolated (sporadic)" "" "OI3 progressively deforming osteogenesis imperfecta" "" "" "" "" "" "" "" "" "" "" "" "" "OI3" "osteogenesis imperfecta" "" "0000352144" "05296" "00466781" "00006" "Familial, autosomal dominant" "" "OI4 common variable osteogenesis imperfecta, normal sclerae" "" "" "" "" "" "" "" "" "" "" "" "" "OI4" "osteogenesis imperfecta" "" "0000352145" "05296" "00466782" "00006" "Familial, autosomal dominant" "" "OI3 progressively deforming osteogenesis imperfecta" "" "" "" "" "" "" "" "" "" "" "" "" "OI3" "osteogenesis imperfecta" "" "0000352146" "05296" "00466783" "00006" "Isolated (sporadic)" "" "OI1 classic non-deforming osteogenesis imperfecta, blue sclerae" "" "" "" "" "" "" "" "" "" "" "" "" "OI1" "osteogenesis imperfecta" "" "0000352147" "05296" "00466784" "00006" "Isolated (sporadic)" "" "OI2 perinatally lethal" "" "" "" "" "" "" "" "" "" "" "" "" "OI2" "osteogenesis imperfecta" "" "0000352148" "05296" "00466785" "00006" "Isolated (sporadic)" "" "OI1 classic non-deforming osteogenesis imperfecta, blue sclerae" "" "" "" "" "" "" "" "" "" "" "" "" "OI1" "osteogenesis imperfecta" "" "0000352149" "05296" "00466786" "00006" "Familial, autosomal dominant" "" "OI1 classic non-deforming osteogenesis imperfecta, blue sclerae" "" "" "" "" "" "" "" "" "" "" "" "" "OI1" "osteogenesis imperfecta" "" ## Screenings ## Do not remove or alter this header ## ## Count = 1507 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081033" "00080921" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000104483" "00104012" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000106389" "00105906" "1" "00006" "00006" "2017-06-27 08:49:03" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000132715" "00131877" "1" "01741" "01741" "2017-09-20 09:47:37" "" "" "SEQ" "DNA" "" "" "0000132900" "00132061" "1" "01396" "01396" "2017-10-18 17:45:55" "" "" "SEQ-NG-I" "DNA" "" "" "0000132901" "00132062" "1" "01396" "01396" "2017-10-18 17:50:50" "" "" "SEQ-NG-I" "DNA" "" "" "0000132902" "00132063" "1" "01396" "01396" "2017-10-18 17:54:48" "" "" "SEQ-NG-I" "DNA" "" "" "0000133608" "00132773" "1" "01741" "01741" "2017-11-06 11:54:34" "" "" "SEQ" "DNA" "" "" "0000266852" "00265729" "1" "02544" "02544" "2019-10-02 10:20:36" "" "" "SEQ" "DNA" "blood" "" "0000266855" "00265732" "1" "02544" "02544" "2019-10-02 10:53:35" "" "" "SEQ" "DNA" "" "" "0000266856" "00265733" "1" "02544" "02544" "2019-10-02 10:58:09" "" "" "SEQ" "DNA" "blood" "" "0000266861" "00265738" "1" "02544" "02544" "2019-10-02 12:17:39" "" "" "SEQ" "DNA" "" "" "0000266862" "00265739" "1" "02544" "02544" "2019-10-02 12:21:23" "" "" "SEQ" "DNA" "blood" "" "0000266863" "00265740" "1" "02544" "02544" "2019-10-02 12:26:10" "" "" "SEQ" "DNA" "blood" "" "0000266864" "00265741" "1" "02544" "02544" "2019-10-02 12:28:32" "" "" "SEQ" "DNA" "" "" "0000295684" "00294516" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295685" "00294517" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295686" "00294518" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000301054" "00299938" "1" "03235" "00006" "2020-04-22 15:48:57" "" "" "SEQ" "DNA" "" "" "0000301055" "00299939" "1" "03235" "00006" "2020-04-22 15:48:57" "" "" "SEQ" "DNA" "" "" "0000301077" "00299961" "1" "03235" "00006" "2020-04-22 15:48:57" "" "" "SEQ" "DNA" "" "" "0000301078" "00299962" "1" "03235" "00006" "2020-04-22 15:48:57" "" "" "SEQ" "DNA" "" "" "0000301079" "00299963" "1" "03235" "00006" "2020-04-22 15:48:57" "" "" "SEQ" "DNA" "" "" "0000301080" "00299964" "1" "03235" "00006" "2020-04-22 15:48:57" "" "" "SEQ" "DNA" "" "" "0000301081" "00299965" "1" "03235" "00006" "2020-04-22 15:48:57" "" "" "SEQ" "DNA" "" "" "0000301082" "00299966" "1" "03235" "00006" "2020-04-22 15:48:57" "" "" "SEQ" "DNA" "" "" "0000301083" "00299967" "1" "03235" "00006" "2020-04-22 15:48:57" "" "" "SEQ" "DNA" "" "" "0000301084" "00299968" "1" "03235" "00006" "2020-04-22 15:48:57" "" "" "SEQ" "DNA" "" "" "0000301085" "00299969" "1" "03235" "00006" "2020-04-22 15:48:57" "" "" "SEQ" "DNA" "" "" "0000301086" "00299970" "1" "03235" "00006" "2020-04-22 15:48:57" "" "" "SEQ" "DNA" "" "" "0000301087" "00299971" "1" "03235" "00006" "2020-04-22 15:48:57" "" "" "SEQ" "DNA" "" "" "0000301088" "00299972" "1" "03235" "00006" "2020-04-22 15:48:57" "" "" "SEQ" "DNA" "" "" "0000301089" "00299973" "1" "03235" "00006" "2020-04-22 15:48:57" "" "" "SEQ" "DNA" "" "" "0000301090" "00299974" "1" "03235" "00006" "2020-04-22 15:48:57" "" "" "SEQ" "DNA" "" "" "0000301091" "00299975" "1" "03235" "00006" "2020-04-22 15:48:57" "" "" "SEQ" "DNA" "" "" "0000301092" "00299976" "1" "03235" "00006" "2020-04-22 15:48:57" "" "" "SEQ" "DNA" "" "" "0000301093" "00299977" "1" "03235" "00006" "2020-04-22 15:48:57" "" "" "SEQ" "DNA" "" "" "0000301094" "00299978" "1" "03235" "00006" "2020-04-22 15:48:57" "" "" "SEQ" "DNA" "" "" "0000301095" "00299979" "1" "03235" "00006" "2020-04-22 15:48:57" "" "" "SEQ" "DNA" "" "" "0000301096" "00299980" "1" "03235" "00006" "2020-04-22 15:48:57" "" "" "SEQ" "DNA" "" "" "0000301485" "00300364" "1" "00006" "00006" "2020-05-01 16:05:35" "" "" "SEQ-NG" "DNA" "" "targeted 14-gene panel OI" "0000301486" "00300365" "1" "00006" "00006" "2020-05-01 16:05:35" "" "" "SEQ-NG" "DNA" "" "targeted 14-gene panel OI" "0000301487" "00300366" "1" "00006" "00006" "2020-05-01 16:05:35" "" "" "SEQ-NG" "DNA" "" "targeted 14-gene panel OI" "0000301488" "00300367" "1" "00006" "00006" "2020-05-01 16:05:35" "" "" "SEQ-NG" "DNA" "" "targeted 14-gene panel OI" "0000301489" "00300368" "1" "00006" "00006" "2020-05-01 16:05:35" "" "" "SEQ-NG" "DNA" "" "targeted 14-gene panel OI" "0000301490" "00300369" "1" "00006" "00006" "2020-05-01 16:05:35" "" "" "SEQ-NG" "DNA" "" "targeted 14-gene panel OI" "0000301491" "00300370" "1" "00006" "00006" "2020-05-01 16:05:35" "" "" "SEQ-NG" "DNA" "" "targeted 14-gene panel OI" "0000301492" "00300371" "1" "00006" "00006" "2020-05-01 16:05:35" "" "" "SEQ-NG" "DNA" "" "targeted 14-gene panel OI" "0000301493" "00300372" "1" "00006" "00006" "2020-05-01 16:05:35" "" "" "SEQ-NG" "DNA" "" "targeted 14-gene panel OI" "0000301494" "00300373" "1" "00006" "00006" "2020-05-01 16:05:35" "" "" "SEQ-NG" "DNA" "" "targeted 14-gene panel OI" "0000301526" "00300405" "1" "00006" "00006" "2020-05-01 16:46:56" "" "" "SEQ-NG" "DNA" "" "targeted 14-gene panel OI" "0000301527" "00300406" "1" "00006" "00006" "2020-05-01 16:46:56" "" "" "SEQ-NG" "DNA" "" "targeted 14-gene panel OI" "0000301528" "00300407" "1" "00006" "00006" "2020-05-01 16:46:56" "" "" "SEQ-NG" "DNA" "" "targeted 14-gene panel OI" "0000301529" "00300408" "1" "00006" "00006" "2020-05-01 16:46:56" "" "" "SEQ-NG" "DNA" "" "targeted 14-gene panel OI" "0000301530" "00300409" "1" "00006" "00006" "2020-05-01 16:46:56" "" "" "SEQ-NG" "DNA" "" "targeted 14-gene panel OI" "0000301531" "00300410" "1" "00006" "00006" "2020-05-01 16:46:56" "" "" "SEQ-NG" "DNA" "" "targeted 14-gene panel OI" "0000301532" "00300411" "1" "00006" "00006" "2020-05-01 16:46:56" "" "" "SEQ-NG" "DNA" "" "targeted 14-gene panel OI" "0000301533" "00300412" "1" "00006" "00006" "2020-05-01 16:46:56" "" "" "SEQ-NG" "DNA" "" "targeted 14-gene panel OI" "0000301534" "00300413" "1" "00006" "00006" "2020-05-01 16:46:56" "" "" "SEQ-NG" "DNA" "" "targeted 14-gene panel OI" "0000301535" "00300414" "1" "00006" "00006" "2020-05-01 16:46:56" "" "" "SEQ-NG" "DNA" "" "targeted 14-gene panel OI" "0000301536" "00300415" "1" "00006" "00006" "2020-05-01 16:46:56" "" "" "SEQ-NG" "DNA" "" "targeted 14-gene panel OI" "0000301537" "00300416" "1" "00006" "00006" "2020-05-01 16:46:56" "" "" "SEQ-NG" "DNA" "" "targeted 14-gene panel OI" "0000301538" "00300417" "1" "00006" "00006" "2020-05-01 16:46:56" "" "" "SEQ-NG" "DNA" "" "targeted 14-gene panel OI" "0000301539" "00300418" "1" "00006" "00006" "2020-05-01 16:46:56" "" "" "SEQ-NG" "DNA" "" "targeted 14-gene panel OI" "0000301540" "00300419" "1" "00006" "00006" "2020-05-01 16:46:56" "" "" "SEQ-NG" "DNA" "" "targeted 14-gene panel OI" "0000301541" "00300420" "1" "00006" "00006" "2020-05-01 16:46:56" "" "" "SEQ-NG" "DNA" "" "targeted 14-gene panel OI" "0000301542" "00300421" "1" "00006" "00006" "2020-05-01 16:46:56" "" "" "SEQ-NG" "DNA" "" "targeted 14-gene panel OI" "0000301543" "00300422" "1" "00006" "00006" "2020-05-01 16:46:56" "" "" "SEQ-NG" "DNA" "" "targeted 14-gene panel OI" "0000301544" "00300423" "1" "00006" "00006" "2020-05-01 16:46:56" "" "" "SEQ-NG" "DNA" "" "targeted 14-gene panel OI" "0000307241" "00306112" "1" "03729" "03729" "2020-07-08 06:51:39" "" "" "SEQ-NG-I" "DNA" "Blood sample" "" "0000321353" "00320168" "1" "01807" "01807" "2020-11-23 17:41:01" "" "" "SEQ" "DNA" "" "" "0000321756" "00320567" "1" "03897" "03897" "2020-04-11 18:38:48" "" "" "PCR;SEQ" "DNA" "" "" "0000321763" "00320574" "1" "03897" "03897" "2020-04-11 18:30:47" "" "" "PCR;SEQ" "DNA" "" "" "0000324013" "00322824" "1" "03855" "03855" "2010-01-14 11:48:38" "" "" "MLPA" "DNA" "" "" "0000324014" "00322825" "1" "00085" "00085" "2019-09-02 11:26:05" "" "" "SEQ" "DNA" "" "" "0000324015" "00322826" "1" "03704" "00085" "2008-08-05 14:20:36" "00085" "2011-08-25 15:19:21" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000324016" "00322827" "1" "00085" "00085" "2009-02-26 13:18:33" "00085" "2011-08-25 15:21:12" "PCR;SEQ" "DNA" "" "" "0000324017" "00322828" "1" "00085" "00085" "2019-09-02 11:30:02" "" "" "SEQ" "DNA" "" "" "0000324018" "00322829" "1" "03855" "03855" "2009-12-30 12:16:18" "" "" "SEQ" "DNA" "" "" "0000324019" "00322830" "1" "03883" "03883" "2019-09-05 10:36:27" "00085" "2019-09-11 14:08:08" "PCR;SEQ" "DNA" "" "" "0000324020" "00322831" "1" "03869" "03869" "2013-01-20 14:00:14" "00085" "2013-01-22 11:46:49" "RT-PCR;SEQ" "RNA" "" "" "0000324021" "00322832" "1" "00085" "00085" "2010-12-14 13:50:59" "00085" "2012-04-16 11:21:30" "?" "?" "" "" "0000324022" "00322833" "1" "03704" "00085" "2008-06-09 12:48:55" "00085" "2011-08-25 15:30:49" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000324023" "00322834" "1" "03704" "00085" "2008-08-01 15:40:47" "00085" "2011-08-25 15:31:34" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000324024" "00322835" "1" "00085" "00085" "2008-08-01 15:49:14" "00085" "2011-08-25 15:32:46" "?" "?" "" "" "0000324025" "00322836" "1" "00085" "00085" "2011-08-03 14:12:01" "00085" "2011-08-03 14:12:28" "PCR;SEQ" "DNA" "" "" "0000324026" "00322837" "1" "03704" "00085" "2008-08-01 16:02:33" "00085" "2011-08-25 15:33:57" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000324027" "00322838" "1" "00085" "00085" "2008-08-01 16:29:11" "00085" "2011-08-25 15:34:48" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000324028" "00322839" "1" "00085" "00085" "2009-02-26 13:27:20" "00085" "2011-08-25 15:27:21" "PCR;SEQ" "DNA" "" "" "0000324029" "00322840" "1" "03704" "00085" "2008-08-04 09:53:21" "00085" "2011-08-25 15:35:43" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000324030" "00322841" "1" "00085" "00085" "2008-08-04 09:59:10" "00085" "2011-08-25 15:37:37" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000324031" "00322842" "1" "00085" "00085" "2008-08-04 10:10:55" "00085" "2011-08-25 15:39:23" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000324032" "00322843" "1" "00085" "00085" "2008-08-04 10:16:27" "00085" "2011-08-25 15:40:25" "PCR;RT-PCR;NUC;SEQ" "DNA;RNA" "" "" "0000324033" "00322844" "1" "00085" "00085" "2008-08-04 10:30:35" "00085" "2014-04-30 13:11:42" "PCR;SEQ" "DNA;RNA" "" "" "0000324034" "00322845" "1" "03704" "00085" "2008-08-04 10:36:47" "00085" "2011-08-25 15:43:07" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000324035" "00322846" "1" "00085" "00085" "2008-08-04 10:42:27" "00085" "2013-04-25 16:46:16" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000324036" "00322847" "1" "00085" "00085" "2008-08-04 10:52:45" "00085" "2013-04-25 16:47:10" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000324037" "00322848" "1" "00085" "00085" "2011-08-03 14:20:35" "" "" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000324038" "00322849" "1" "03704" "00085" "2008-08-04 10:56:31" "00085" "2013-04-24 17:02:07" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000324039" "00322850" "1" "03704" "00085" "2008-08-04 10:57:42" "00085" "2013-04-24 17:02:07" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000324040" "00322851" "1" "00085" "00085" "2008-08-04 11:06:03" "00085" "2013-04-25 16:48:02" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000324041" "00322852" "1" "00085" "00085" "2011-08-03 14:16:19" "" "" "PCR;SEQ" "DNA" "" "" "0000324042" "00322853" "1" "00085" "00085" "2014-01-21 13:24:25" "00085" "2014-01-21 13:25:46" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000324043" "00322854" "1" "00085" "00085" "2008-08-04 11:15:03" "00085" "2014-04-30 11:57:35" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000324044" "00322855" "1" "00085" "00085" "2008-08-04 11:19:11" "00085" "2013-04-25 16:49:41" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000324045" "00322856" "1" "00085" "00085" "2008-08-04 11:21:10" "00085" "2013-04-25 16:50:22" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000324046" "00322857" "1" "00085" "00085" "2013-07-22 09:08:44" "" "" "SEQ" "DNA" "" "" "0000324047" "00322858" "1" "00085" "00085" "2011-08-03 14:03:19" "00085" "2011-08-03 14:06:53" "PCR;SEQ" "DNA" "" "" "0000324048" "00322859" "1" "00085" "00085" "2008-06-09 13:09:12" "00085" "2012-03-08 10:39:32" "PCR;RT-PCR;SEQ;Southern" "DNA;RNA" "" "" "0000324049" "00322860" "1" "03878" "03878" "2015-05-22 15:32:18" "" "" "SEQ-NG" "DNA" "" "" "0000324050" "00322861" "1" "00085" "00085" "2008-06-09 13:24:31" "00085" "2012-03-08 10:42:14" "PCR;SEQ;SSCA" "DNA" "" "" "0000324051" "00322862" "1" "03879" "03879" "2014-12-03 10:05:07" "00085" "2015-08-07 15:43:41" "PCR;SEQ" "DNA" "" "" "0000324052" "00322863" "1" "03879" "03879" "2014-12-08 08:28:38" "00085" "2015-08-10 09:36:04" "PCR;SEQ" "DNA" "" "" "0000324053" "00322864" "1" "03883" "03883" "2018-12-19 10:03:21" "00085" "2019-09-11 14:09:42" "PCR;SEQ" "DNA" "" "" "0000324054" "00322865" "1" "01819" "01819" "2011-09-27 13:13:27" "00085" "2013-05-23 13:07:43" "PCR;SEQ" "DNA" "" "" "0000324055" "00322866" "1" "01819" "01819" "2011-09-22 14:27:03" "00085" "2013-05-23 13:08:30" "PCR;SEQ" "DNA" "" "" "0000324056" "00322867" "1" "03879" "03879" "2014-12-09 12:49:04" "00085" "2015-08-07 15:42:49" "PCR;SEQ" "DNA" "" "" "0000324058" "00322869" "1" "00085" "00085" "2015-12-10 09:02:03" "" "" "PCR;SEQ" "DNA" "" "" "0000324059" "00322870" "1" "03870" "03870" "2010-09-10 14:25:46" "00085" "2013-04-17 10:00:18" "DHPLC;SEQ" "DNA" "" "" "0000324060" "00322871" "1" "03870" "03870" "2017-01-16 14:12:15" "" "" "SEQ" "DNA" "" "" "0000324061" "00322872" "1" "03870" "03870" "2017-01-20 15:09:08" "" "" "SEQ" "DNA" "" "" "0000324062" "00322873" "1" "03870" "03870" "2017-01-20 15:13:46" "" "" "SEQ" "DNA" "" "" "0000324063" "00322874" "1" "03855" "03855" "2010-01-05 15:39:59" "" "" "SEQ" "DNA" "" "" "0000324064" "00322875" "1" "00085" "00085" "2008-03-14 13:11:22" "00085" "2014-01-21 14:51:15" "?" "?" "" "" "0000324065" "00322876" "1" "00085" "00085" "2016-01-05 08:17:35" "" "" "SEQ" "DNA" "" "" "0000324066" "00322877" "1" "03853" "03853" "2009-08-28 15:41:52" "" "" "SEQ" "DNA" "" "" "0000324067" "00322878" "1" "03704" "00085" "2008-03-14 13:13:09" "00085" "2013-04-25 16:51:29" "?" "?" "" "" "0000324068" "00322879" "1" "00085" "00085" "2015-12-14 10:21:04" "" "" "arrayCGH;SEQ-NG" "DNA" "" "" "0000324069" "00322880" "1" "03891" "03891" "2018-06-14 15:05:00" "00085" "2018-06-25 11:29:41" "SEQ" "DNA" "" "" "0000324070" "00322881" "1" "00085" "00085" "2009-11-19 16:28:53" "00085" "2013-04-23 16:49:59" "?" "?" "" "" "0000324071" "00322882" "1" "03853" "03853" "2010-12-23 17:18:39" "" "" "SEQ" "DNA" "" "" "0000324072" "00322883" "1" "00085" "00085" "2008-03-14 13:20:31" "00085" "2013-04-25 16:53:24" "?" "?" "" "" "0000324073" "00322884" "1" "03704" "00085" "2008-03-14 13:21:58" "00085" "2013-04-25 16:52:32" "?" "?" "" "" "0000324074" "00322885" "1" "03881" "03881" "2015-08-21 10:05:38" "" "" "SEQ" "DNA" "" "" "0000324075" "00322886" "1" "03855" "03855" "2010-01-05 16:28:54" "" "" "SEQ" "DNA" "" "" "0000324076" "00322887" "1" "03870" "03870" "2009-09-14 15:02:03" "00085" "2013-04-17 10:00:18" "DHPLC;SEQ" "DNA" "" "" "0000324077" "00322888" "1" "03870" "03870" "2017-01-20 15:18:16" "" "" "SEQ" "DNA" "" "" "0000324078" "00322889" "1" "03891" "03891" "2019-01-23 10:56:47" "" "" "SEQ" "DNA" "" "" "0000324079" "00322890" "1" "00085" "00085" "2008-08-04 13:08:40" "00085" "2012-08-01 13:45:50" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000324080" "00322891" "1" "03704" "00085" "2008-08-04 13:13:25" "00085" "2013-04-25 16:54:11" "?" "?" "" "" "0000324081" "00322892" "1" "01819" "01819" "2013-04-17 09:52:25" "00085" "2013-05-23 13:09:31" "PCR;SEQ" "DNA" "" "" "0000324082" "00322893" "1" "00085" "00085" "2008-08-04 13:22:12" "00085" "2012-08-01 13:48:02" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000324083" "00322894" "1" "03704" "00085" "2008-08-04 13:30:54" "00085" "2013-04-25 16:54:55" "?" "?" "" "" "0000324084" "00322895" "1" "00085" "00085" "2008-06-09 13:46:33" "00085" "2012-07-31 15:32:49" "PCR;RT-PCR;SEQ;Southern" "DNA;RNA" "" "" "0000324085" "00322896" "1" "01819" "01819" "2011-09-27 13:15:23" "" "" "SEQ" "DNA" "" "" "0000324086" "00322897" "1" "00085" "00085" "2008-08-04 13:33:39" "00085" "2013-04-25 16:55:53" "?" "?" "" "" "0000324087" "00322898" "1" "00085" "00085" "2015-06-17 12:47:28" "00085" "2015-06-17 12:53:27" "PCR;SEQ" "DNA" "" "" "0000324088" "00322899" "1" "03896" "00085" "2019-06-06 11:33:14" "00085" "2019-06-06 11:41:34" "SEQ" "DNA" "" "" "0000324089" "00322900" "1" "03894" "03894" "2018-09-26 12:11:33" "" "" "PCR;SEQ" "DNA" "" "" "0000324090" "00322901" "1" "01819" "01819" "2011-09-27 13:16:56" "" "" "PCR;SEQ" "DNA" "" "" "0000324091" "00322902" "1" "03885" "03885" "2016-10-04 20:08:21" "00085" "2017-03-13 15:35:27" "SEQ-NG" "DNA" "" "" "0000324092" "00322903" "1" "00085" "00085" "2008-08-04 14:11:32" "00085" "2012-08-01 13:52:27" "NUC;SEQ" "DNA" "" "" "0000324093" "00322904" "1" "03704" "00085" "2008-03-14 13:23:18" "00085" "2013-04-25 16:56:40" "?" "?" "" "" "0000324094" "00322905" "1" "00085" "00085" "2008-03-14 13:24:29" "00085" "2013-04-25 16:57:29" "?" "?" "" "" "0000324095" "00322906" "1" "00475" "00475" "2010-01-15 13:43:06" "" "" "SEQ" "DNA" "" "" "0000324096" "00322907" "1" "03870" "03870" "2009-10-09 14:12:47" "00085" "2013-04-17 10:00:18" "DHPLC;SEQ" "DNA" "" "" "0000324097" "00322908" "1" "03704" "00085" "2008-08-05 14:11:20" "00085" "2012-07-10 13:35:30" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000324098" "00322909" "1" "03894" "03894" "2018-09-26 13:40:07" "" "" "PCR;SEQ" "DNA" "" "" "0000324099" "00322910" "1" "00085" "00085" "2008-04-09 15:51:26" "00085" "2013-04-25 16:58:48" "RT-PCR;SEQ" "RNA" "" "" "0000324100" "00322911" "1" "03865" "03865" "2012-06-24 02:51:11" "00085" "2013-08-23 13:55:21" "MS;PCR;SEQ" "DNA" "" "" "0000324101" "00322912" "1" "03870" "03870" "2017-01-20 15:26:16" "" "" "DHPLC;SEQ" "DNA" "" "" "0000324102" "00322913" "1" "03894" "03894" "2018-09-26 12:40:21" "" "" "PCR;SEQ" "DNA" "" "" "0000324103" "00322914" "1" "03894" "03894" "2018-09-26 13:28:23" "" "" "PCR;SEQ" "DNA" "" "" "0000324104" "00322915" "1" "00085" "00085" "2019-08-27 13:58:35" "" "" "SEQ" "DNA" "" "" "0000324105" "00322916" "1" "03894" "03894" "2018-09-26 10:43:15" "" "" "PCR;SEQ" "DNA" "" "" "0000324106" "00322917" "1" "00475" "00475" "2010-01-15 13:47:50" "" "" "SEQ" "DNA" "" "" "0000324107" "00322918" "1" "03894" "03894" "2018-09-26 14:21:28" "" "" "PCR;SEQ" "DNA" "" "" "0000324108" "00322919" "1" "03870" "03870" "2017-01-20 15:31:33" "" "" "MCA;SEQ" "DNA" "" "" "0000324109" "00322920" "1" "00085" "00085" "2008-03-14 13:25:53" "00085" "2013-04-25 16:59:53" "?" "?" "" "" "0000324110" "00322921" "1" "01819" "01819" "2011-09-22 14:28:18" "" "" "PCR;SEQ" "DNA" "" "" "0000324111" "00322922" "1" "00085" "00085" "2008-03-14 13:30:59" "00085" "2013-04-25 17:01:37" "?" "?" "" "" "0000324112" "00322923" "1" "00085" "00085" "2008-04-09 16:04:16" "00085" "2011-08-25 15:44:44" "PCR;SEQ" "DNA" "" "" "0000324113" "00322924" "1" "03855" "03855" "2010-01-05 15:18:36" "" "" "SEQ" "DNA" "" "" "0000324114" "00322925" "1" "03855" "03855" "2010-01-05 16:11:40" "" "" "SEQ" "DNA" "" "" "0000324115" "00322926" "1" "03870" "03870" "2010-03-05 16:40:30" "00085" "2013-04-17 10:00:18" "DHPLC;SEQ" "DNA" "" "" "0000324116" "00322927" "1" "03870" "03870" "2010-09-02 13:07:24" "00085" "2013-04-17 10:00:18" "DHPLC;SEQ" "DNA" "" "" "0000324117" "00322928" "1" "03861" "03861" "2011-05-03 10:46:57" "" "" "DHPLC;SEQ" "DNA" "" "" "0000324118" "00322929" "1" "03870" "03870" "2011-06-09 16:33:03" "00085" "2013-04-22 11:16:01" "DHPLC;SEQ" "DNA" "" "" "0000324119" "00322930" "1" "03861" "03861" "2012-03-30 13:15:17" "" "" "DHPLC;SEQ" "DNA" "" "" "0000324120" "00322931" "1" "03879" "03879" "2014-12-08 13:11:02" "00085" "2015-08-07 15:42:07" "PCR;SEQ" "DNA" "" "" "0000324121" "00322932" "1" "03879" "03879" "2014-12-08 13:12:14" "00085" "2015-08-07 15:41:18" "PCR;SEQ" "DNA" "" "" "0000324122" "00322933" "1" "03879" "03879" "2014-12-08 13:14:01" "00085" "2015-08-07 15:39:47" "PCR;SEQ" "DNA" "" "" "0000324123" "00322934" "1" "03879" "03879" "2014-12-08 13:14:58" "00085" "2015-08-07 15:39:06" "PCR;SEQ" "DNA" "" "" "0000324124" "00322935" "1" "03870" "03870" "2017-01-20 15:50:59" "" "" "SEQ" "DNA" "" "" "0000324125" "00322936" "1" "03870" "03870" "2017-01-20 15:55:18" "" "" "SEQ" "DNA" "" "" "0000324126" "00322937" "1" "03870" "03870" "2017-03-27 12:32:50" "" "" "MCA;SEQ" "DNA" "" "" "0000324127" "00322938" "1" "00085" "00085" "2018-08-03 10:26:23" "" "" "PCR;SEQ" "DNA" "" "" "0000324128" "00322939" "1" "03870" "03870" "2009-05-08 14:51:21" "00085" "2013-04-17 10:00:18" "DHPLC;SEQ" "DNA" "" "" "0000324129" "00322940" "1" "00085" "00085" "2019-08-20 10:02:05" "" "" "SEQ" "DNA" "" "" "0000324130" "00322941" "1" "00085" "00085" "2008-03-14 13:36:51" "00085" "2013-04-25 17:02:50" "?" "?" "" "" "0000324131" "00322942" "1" "03894" "03894" "2018-09-26 14:08:18" "" "" "PCR;SEQ" "DNA" "" "" "0000324132" "00322943" "1" "03872" "03872" "2014-11-02 10:40:36" "" "" "MCA;SEQ" "DNA" "" "" "0000324133" "00322944" "1" "03894" "03894" "2018-09-27 05:42:56" "" "" "PCR;SEQ" "DNA" "" "" "0000324134" "00322945" "1" "03872" "03872" "2014-11-08 18:22:22" "" "" "MCA;PCR;SEQ" "DNA" "" "" "0000324135" "00322946" "1" "00085" "00085" "2011-06-27 12:53:12" "" "" "PCR;SEQ" "DNA" "" "" "0000324136" "00322947" "1" "03870" "03870" "2011-06-09 16:31:29" "00085" "2013-04-22 11:18:05" "DHPLC;SEQ" "DNA" "" "" "0000324137" "00322948" "1" "03870" "03870" "2017-03-27 12:33:39" "" "" "SEQ" "DNA" "" "" "0000324138" "00322949" "1" "01819" "01819" "2011-09-22 14:30:26" "00085" "2013-05-23 13:10:30" "PCR;SEQ" "DNA" "" "" "0000324139" "00322950" "1" "03704" "00085" "2008-08-04 15:57:21" "00085" "2013-04-26 09:05:58" "?" "?" "" "" "0000324140" "00322951" "1" "00085" "00085" "2008-08-04 15:04:42" "00085" "2014-02-11 15:21:16" "PCR;RT-PCR;SEQ;NUC" "DNA;RNA" "" "" "0000324141" "00322952" "1" "00085" "00085" "2008-08-04 16:09:19" "00085" "2013-04-24 10:51:22" "CSGE;PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000324142" "00322953" "1" "00085" "00085" "2008-08-04 16:14:29" "00085" "2013-04-24 16:49:07" "PCR;SEQ" "DNA" "" "" "0000324143" "00322954" "1" "00085" "00085" "2008-08-04 16:27:49" "00085" "2014-03-19 14:05:36" "?" "?" "" "" "0000324144" "00322955" "1" "03870" "03870" "2017-04-13 16:21:50" "" "" "MLPA" "DNA" "" "" "0000324145" "00322956" "1" "03885" "03885" "2016-10-04 20:22:28" "" "" "SEQ" "DNA" "" "" "0000324146" "00322957" "1" "03853" "03853" "2008-11-05 17:20:23" "00085" "2014-08-05 11:47:59" "SEQ" "DNA" "" "" "0000324147" "00322958" "1" "01819" "01819" "2011-09-22 14:32:04" "" "" "PCR;SEQ" "DNA" "" "" "0000324148" "00322959" "1" "03894" "03894" "2018-09-26 11:22:33" "" "" "PCR;SEQ" "DNA" "" "" "0000324149" "00322960" "1" "03704" "00085" "2008-03-14 13:40:34" "00085" "2013-04-26 09:06:43" "?" "?" "" "" "0000324150" "00322961" "1" "00085" "00085" "2008-03-14 13:41:40" "00085" "2013-04-26 09:07:25" "?" "?" "" "" "0000324151" "00322962" "1" "00085" "00085" "2008-04-09 16:12:39" "00085" "2013-04-24 10:35:25" "PCR;SEQ" "DNA" "" "" "0000324152" "00322963" "1" "00475" "00475" "2010-01-15 13:52:19" "00085" "2010-04-22 17:26:26" "SEQ" "DNA" "" "" "0000324153" "00322964" "1" "03879" "03879" "2014-12-08 12:48:45" "00085" "2015-08-07 15:37:54" "PCR;SEQ" "DNA" "" "" "0000324154" "00322965" "1" "03704" "00085" "2008-03-14 13:45:08" "00085" "2013-04-26 09:08:06" "?" "?" "" "" "0000324155" "00322966" "1" "00085" "00085" "2008-04-07 16:02:03" "00085" "2014-04-07 09:03:45" "PCR;SEQ" "DNA" "" "" "0000324156" "00322967" "1" "03872" "03872" "2015-05-21 17:20:42" "" "" "MCA;PCR;SEQ" "DNA" "" "" "0000324157" "00322968" "1" "00085" "00085" "2015-04-13 16:06:35" "00085" "2015-04-13 16:18:06" "SEQ-NG;MLPA;PCR;SEQ" "DNA" "" "" "0000324158" "00322969" "1" "00085" "00085" "2008-03-14 13:46:40" "00085" "2013-04-26 09:09:27" "?" "?" "" "" "0000324159" "00322970" "1" "00085" "00085" "2008-04-09 16:19:01" "00085" "2013-04-24 16:46:02" "RT-PCR;SEQ" "RNA" "" "" "0000324160" "00322971" "1" "03853" "03853" "2009-08-28 15:44:31" "" "" "SEQ" "DNA" "" "" "0000324161" "00322972" "1" "00085" "00085" "2008-08-05 08:36:01" "00085" "2013-04-26 09:10:59" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000324162" "00322973" "1" "03894" "03894" "2019-10-14 02:56:33" "00006" "2021-10-30 11:41:37" "SEQ;SEQ-NG" "DNA" "" "WES" "0000324163" "00322974" "1" "00085" "00085" "2019-08-16 14:27:32" "00085" "2019-09-10 12:42:57" "SEQ" "DNA" "" "" "0000324164" "00322975" "1" "03853" "03853" "2009-08-28 15:46:58" "" "" "SEQ" "DNA" "" "" "0000324165" "00322976" "1" "00085" "00085" "2008-04-09 16:27:52" "00085" "2013-04-24 10:51:22" "CSGE;RT-PCR;SEQ" "RNA" "" "" "0000324166" "00322977" "1" "00085" "00085" "2013-12-20 14:03:28" "00085" "2013-12-20 14:03:54" "PCR;SEQ" "DNA" "" "" "0000324167" "00322978" "1" "00085" "00085" "2015-11-26 11:31:06" "" "" "PCR;SEQ" "DNA" "" "" "0000324168" "00322979" "1" "00085" "00085" "2008-08-05 08:39:01" "00085" "2013-04-26 09:12:16" "?" "?" "" "" "0000324169" "00322980" "1" "00085" "00085" "2014-04-02 10:14:02" "" "" "PCR;SEQ" "DNA" "" "" "0000324170" "00322981" "1" "03870" "03870" "2017-03-27 12:36:05" "" "" "MCA;SEQ" "DNA" "" "" "0000324171" "00322982" "1" "03865" "03865" "2012-06-24 03:02:50" "00085" "2013-08-23 13:55:41" "MS;PCR;SEQ" "DNA" "" "" "0000324172" "00322983" "1" "03894" "03894" "2018-09-26 13:29:21" "" "" "PCR;SEQ" "DNA" "" "" "0000324173" "00322984" "1" "01819" "01819" "2011-09-27 13:18:34" "" "" "PCR;SEQ" "DNA" "" "" "0000324174" "00322985" "1" "03704" "00085" "2008-08-05 08:42:21" "00085" "2013-04-26 09:13:01" "?" "?" "" "" "0000324175" "00322986" "1" "03704" "00085" "2008-08-05 08:40:55" "00085" "2013-04-26 09:13:41" "?" "?" "" "" "0000324176" "00322987" "1" "00085" "00085" "2019-09-04 12:59:17" "" "" "SEQ" "DNA" "" "" "0000324177" "00322988" "1" "00475" "00475" "2010-01-14 17:43:37" "" "" "SEQ" "DNA" "" "" "0000324178" "00322989" "1" "01819" "01819" "2013-04-17 09:56:16" "00085" "2014-02-05 14:39:34" "PCR;SEQ" "DNA" "" "" "0000324179" "00322990" "1" "03853" "03853" "2008-11-05 17:24:38" "00085" "2014-08-05 12:55:21" "SEQ" "DNA" "" "" "0000324180" "00322991" "1" "00085" "00085" "2014-08-05 16:11:41" "" "" "PCRm;SEQ" "DNA" "" "" "0000324181" "00322992" "1" "03704" "00085" "2009-02-13 13:24:32" "00085" "2011-08-25 14:44:23" "PCR;SEQ" "DNA" "" "" "0000324182" "00322993" "1" "03704" "00085" "2008-08-05 08:45:34" "00085" "2013-04-26 09:14:28" "?" "?" "" "" "0000324183" "00322994" "1" "03894" "03894" "2018-09-26 11:30:46" "" "" "PCR;SEQ" "DNA" "" "" "0000324184" "00322995" "1" "03894" "03894" "2018-09-26 14:24:44" "" "" "PCR;SEQ" "DNA" "" "" "0000324185" "00322996" "1" "03852" "03852" "2008-08-19 15:05:06" "00085" "2013-04-26 09:17:29" "PCR;SEQ" "DNA" "" "" "0000324186" "00322997" "1" "03872" "03872" "2016-08-08 16:34:01" "" "" "SEQ-NG" "DNA" "" "" "0000324187" "00322998" "1" "03855" "03855" "2009-12-30 11:50:44" "" "" "SEQ" "DNA" "" "" "0000324188" "00322999" "1" "00085" "00085" "2019-09-04 13:09:05" "" "" "SSCA" "DNA" "" "" "0000324189" "00323000" "1" "03704" "00085" "2008-03-14 13:48:03" "00085" "2013-04-26 09:15:21" "?" "?" "" "" "0000324190" "00323001" "1" "00085" "00085" "2008-03-14 13:49:01" "00085" "2013-04-26 09:16:43" "?" "?" "" "" "0000324191" "00323002" "1" "00085" "00085" "2008-03-14 13:49:59" "00085" "2013-04-24 09:31:52" "?" "?" "" "" "0000324192" "00323003" "1" "00085" "00085" "2017-03-15 16:01:47" "" "" "SEQ-NG" "DNA" "" "" "0000324193" "00323004" "1" "03704" "00085" "2008-03-14 13:51:10" "00085" "2013-04-24 09:19:57" "?" "?" "" "" "0000324194" "00323005" "1" "03855" "03855" "2009-12-30 12:04:40" "00085" "2010-04-07 09:18:06" "SEQ" "DNA" "" "" "0000324195" "00323006" "1" "03855" "03855" "2010-01-05 15:33:41" "00085" "2010-04-08 09:17:50" "SEQ" "DNA" "" "" "0000324196" "00323007" "1" "03894" "03894" "2018-09-27 08:45:16" "" "" "PCR;SEQ" "DNA" "" "" "0000324197" "00323008" "1" "03704" "00085" "2008-03-14 13:52:17" "00085" "2013-04-26 09:18:37" "?" "?" "" "" "0000324198" "00323009" "1" "03872" "03872" "2014-12-21 15:34:01" "" "" "MCA;PCR;SEQ" "DNA" "" "" "0000324199" "00323010" "1" "00085" "00085" "2008-03-14 13:53:39" "00085" "2013-04-26 09:20:15" "?" "?" "" "" "0000324200" "00323011" "1" "00085" "00085" "2009-02-12 14:17:40" "00085" "2014-04-30 11:58:31" "SEQ" "DNA" "" "" "0000324201" "00323012" "1" "03891" "03891" "2018-06-14 15:31:13" "00085" "2018-06-22 11:51:23" "SEQ-NG" "DNA" "" "" "0000324202" "00323013" "1" "03869" "03869" "2013-01-20 13:52:05" "00085" "2013-01-22 11:56:28" "RT-PCR;SEQ" "RNA" "" "" "0000324203" "00323014" "1" "03872" "03872" "2015-04-17 14:06:20" "" "" "MCA;PCR;SEQ" "DNA" "" "" "0000324204" "00323015" "1" "03894" "03894" "2018-09-26 12:01:04" "03894" "2018-09-28 06:59:24" "PCR;SEQ" "DNA" "" "" "0000324205" "00323016" "1" "03894" "03894" "2018-09-26 14:19:43" "" "" "PCR;SEQ" "DNA" "" "" "0000324206" "00323017" "1" "03894" "03894" "2019-10-14 03:00:37" "00006" "2021-10-30 11:42:27" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000324207" "00323018" "1" "00085" "00085" "2008-08-05 08:50:23" "00085" "2012-07-10 13:45:38" "PCR;NUC;RT-PCR;SEQ" "DNA;RNA" "" "" "0000324208" "00323019" "1" "00085" "00085" "2018-01-19 13:33:34" "" "" "PCR;SEQ" "DNA" "" "" "0000324209" "00323020" "1" "00085" "00085" "2008-08-05 08:55:08" "00085" "2013-04-24 10:51:22" "CSGE;PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000324210" "00323021" "1" "00085" "00085" "2008-08-05 09:58:01" "00085" "2013-04-26 09:23:35" "?" "?" "" "" "0000324211" "00323022" "1" "00085" "00085" "2011-06-27 12:54:59" "" "" "PCR;SEQ" "DNA" "" "" "0000324212" "00323023" "1" "00085" "00085" "2008-08-05 09:56:57" "00085" "2012-07-10 13:46:29" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000324213" "00323024" "1" "03894" "03894" "2018-09-26 13:12:15" "" "" "PCR;SEQ" "DNA" "" "" "0000324214" "00323025" "1" "03872" "03872" "2015-02-05 14:07:09" "" "" "MCA;PCR;SEQ" "DNA" "" "" "0000324215" "00323026" "1" "03894" "03894" "2018-09-26 12:36:50" "03894" "2018-09-27 14:44:46" "PCR;SEQ" "DNA" "" "" "0000324216" "00323027" "1" "03869" "03869" "2013-01-20 14:05:06" "00085" "2013-01-22 11:54:04" "RT-PCR;SEQ" "RNA" "" "" "0000324217" "00323028" "1" "03879" "03879" "2014-12-08 08:21:49" "00085" "2015-08-07 15:36:59" "PCR;SEQ" "DNA" "" "" "0000324218" "00323029" "1" "03879" "03879" "2014-12-08 08:24:07" "00085" "2015-08-07 15:36:25" "PCR;SEQ" "DNA" "" "" "0000324219" "00323030" "1" "00085" "00085" "2008-04-14 10:43:01" "00085" "2013-04-26 09:45:24" "RT-PCR;SEQ" "RNA" "" "" "0000324220" "00323031" "1" "03853" "03853" "2009-12-18 15:27:07" "" "" "SEQ" "DNA" "" "" "0000324221" "00323032" "1" "03865" "03865" "2012-06-24 03:04:54" "00085" "2013-08-23 13:56:02" "MS;PCR;SEQ" "DNA" "" "" "0000324222" "00323033" "1" "03865" "03865" "2012-06-25 07:14:18" "00085" "2013-08-23 13:56:41" "MS;PCR;SEQ" "DNA" "" "" "0000324223" "00323034" "1" "03879" "03879" "2014-12-05 09:41:37" "00085" "2015-08-07 15:35:41" "PCR;SEQ" "DNA" "" "" "0000324224" "00323035" "1" "03894" "03894" "2018-09-26 11:24:26" "" "" "PCR;SEQ" "DNA" "" "" "0000324225" "00323036" "1" "03894" "03894" "2018-09-26 14:29:05" "" "" "PCR;SEQ" "DNA" "" "" "0000324226" "00323037" "1" "03853" "03853" "2008-11-05 17:22:06" "00085" "2008-11-28 09:38:58" "SEQ" "DNA" "" "" "0000324227" "00323038" "1" "03853" "03853" "2009-02-04 16:43:39" "" "" "SEQ" "DNA" "" "" "0000324228" "00323039" "1" "00085" "00085" "2009-11-30 13:21:08" "" "" "?" "?" "" "" "0000324229" "00323040" "1" "03870" "03870" "2008-10-23 09:34:14" "00085" "2013-04-17 10:00:18" "DHPLC;SEQ" "DNA" "" "" "0000324230" "00323041" "1" "03870" "03870" "2010-09-27 16:20:20" "00085" "2013-04-22 11:19:02" "DHPLC;SEQ" "DNA" "" "" "0000324231" "00323042" "1" "03865" "03865" "2013-08-22 10:14:57" "00085" "2013-08-27 09:15:51" "PCR;SEQ" "DNA" "" "" "0000324232" "00323043" "1" "03870" "03870" "2017-03-27 12:37:07" "" "" "SEQ" "DNA" "" "" "0000324233" "00323044" "1" "03870" "03870" "2017-03-27 12:38:22" "" "" "SEQ" "DNA" "" "" "0000324234" "00323045" "1" "03870" "03870" "2017-03-27 12:39:04" "" "" "SEQ" "DNA" "" "" "0000324235" "00323046" "1" "03870" "03870" "2017-04-13 16:23:19" "" "" "SEQ" "DNA" "" "" "0000324236" "00323047" "1" "03894" "03894" "2018-09-26 14:04:49" "" "" "PCR;SEQ" "DNA" "" "" "0000324237" "00323048" "1" "00085" "00085" "2016-08-01 09:59:26" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" "" "0000324238" "00323049" "1" "00085" "00085" "2019-09-02 11:38:22" "" "" "SEQ" "DNA" "" "" "0000324239" "00323050" "1" "03894" "03894" "2018-09-27 09:04:44" "" "" "PCR;SEQ" "DNA" "" "" "0000324240" "00323051" "1" "00085" "00085" "2008-04-14 10:48:43" "00085" "2012-11-13 10:40:14" "CSGE;RT-PCR;SEQ" "RNA" "" "" "0000324241" "00323052" "1" "03853" "03853" "2009-03-06 14:44:28" "00085" "2012-11-13 10:39:05" "SEQ" "DNA" "" "" "0000324242" "00323053" "1" "00085" "00085" "2012-11-13 10:45:48" "" "" "PCR;SEQ" "DNA" "" "" "0000324243" "00323054" "1" "00085" "00085" "2008-03-14 13:54:53" "00085" "2013-04-26 09:25:31" "?" "?" "" "" "0000324244" "00323055" "1" "03870" "03870" "2010-12-13 15:17:19" "00085" "2013-04-22 11:25:08" "DHPLC;SEQ" "DNA" "" "" "0000324245" "00323056" "1" "03870" "03870" "2009-11-25 16:44:34" "00085" "2013-04-17 10:00:18" "DHPLC;SEQ" "DNA" "" "" "0000324246" "00323057" "1" "03870" "03870" "2010-09-30 14:38:31" "00085" "2013-04-17 10:00:18" "DHPLC;SEQ" "DNA" "" "" "0000324247" "00323058" "1" "03894" "03894" "2018-09-27 09:15:39" "" "" "PCR;SEQ" "DNA" "" "" "0000324248" "00323059" "1" "00475" "00475" "2010-01-14 17:52:41" "" "" "SEQ" "DNA" "" "" "0000324249" "00323060" "1" "03704" "00085" "2008-03-14 13:55:59" "00085" "2009-12-01 12:27:58" "?" "?" "" "" "0000324250" "00323061" "1" "03704" "00085" "2008-03-14 13:56:42" "00085" "2009-12-01 12:28:09" "?" "?" "" "" "0000324251" "00323062" "1" "00085" "00085" "2008-03-14 13:57:27" "00085" "2009-12-01 12:28:19" "?" "?" "" "" "0000324252" "00323063" "1" "00085" "00085" "2008-03-14 13:58:18" "00085" "2014-01-21 14:48:29" "?" "?" "" "" "0000324253" "00323064" "1" "00085" "00085" "2008-03-14 13:59:03" "00085" "2009-12-01 12:28:40" "?" "?" "" "" "0000324254" "00323065" "1" "00085" "00085" "2008-03-14 14:00:06" "00085" "2013-04-24 09:31:52" "?" "?" "" "" "0000324255" "00323066" "1" "00085" "00085" "2008-03-14 14:00:58" "00085" "2009-12-01 12:29:09" "?" "?" "" "" "0000324256" "00323067" "1" "00085" "00085" "2008-04-07 15:57:39" "00085" "2014-04-07 09:05:47" "PCR;SEQ" "DNA" "" "" "0000324257" "00323068" "1" "00085" "00085" "2008-04-07 15:58:54" "00085" "2014-04-07 09:09:35" "PCR;SEQ" "DNA" "" "" "0000324258" "00323069" "1" "03702" "03702" "2008-09-03 21:11:08" "00085" "2013-04-26 09:22:09" "PAGE;PCR;RT-PCR;SEQ" "RNA" "" "" "0000324259" "00323070" "1" "03853" "03853" "2009-02-06 13:21:04" "00085" "2009-12-01 12:30:01" "SEQ" "DNA" "" "" "0000324260" "00323071" "1" "03855" "03855" "2010-01-05 15:37:32" "" "" "SEQ" "DNA" "" "" "0000324261" "00323072" "1" "03855" "03855" "2010-01-05 15:44:00" "" "" "SEQ" "DNA" "" "" "0000324262" "00323073" "1" "00475" "00475" "2010-01-15 13:54:34" "" "" "SEQ" "DNA" "" "" "0000324263" "00323074" "1" "03702" "03702" "2010-08-11 11:58:27" "00085" "2010-08-13 13:12:02" "PAGE;PCR;RT-PCR;SEQ" "RNA" "" "" "0000324264" "00323075" "1" "03870" "03870" "2011-01-18 08:39:49" "00085" "2013-04-17 10:00:18" "DHPLC;SEQ" "DNA" "" "" "0000324265" "00323076" "1" "00085" "00085" "2011-06-27 13:29:29" "" "" "PCR;SEQ" "DNA" "" "" "0000324266" "00323077" "1" "01819" "01819" "2011-09-22 14:33:08" "" "" "PCR;SEQ" "DNA" "" "" "0000324267" "00323078" "1" "03865" "03865" "2013-08-22 10:03:07" "" "" "PCR;SEQ" "DNA" "" "" "0000324268" "00323079" "1" "00085" "00085" "2014-08-05 14:08:31" "" "" "PCRm;SEQ" "DNA" "" "" "0000324269" "00323080" "1" "03879" "03879" "2014-12-03 10:51:07" "00085" "2015-08-07 15:35:09" "PCR" "DNA" "" "" "0000324270" "00323081" "1" "03872" "03872" "2015-05-21 17:15:16" "" "" "MCA;PCR;SEQ" "DNA" "" "" "0000324271" "00323082" "1" "03872" "03872" "2015-05-23 14:23:07" "" "" "MCA;PCR;SEQ" "DNA" "" "" "0000324272" "00323083" "1" "03894" "03894" "2018-09-26 13:23:04" "" "" "PCR;SEQ" "DNA" "" "" "0000324273" "00323084" "1" "03894" "03894" "2018-09-26 13:43:39" "" "" "PCR;SEQ" "DNA" "" "" "0000324274" "00323085" "1" "03894" "03894" "2018-09-26 14:20:29" "" "" "PCR;SEQ" "DNA" "" "" "0000324275" "00323086" "1" "03894" "03894" "2018-09-26 12:06:59" "" "" "PCR;SEQ" "DNA" "" "" "0000324276" "00323087" "1" "00085" "00085" "2018-01-19 13:38:26" "" "" "PCR;SEQ" "DNA" "" "" "0000324277" "00323088" "1" "03865" "03865" "2012-06-25 07:16:43" "00085" "2013-08-23 13:56:21" "MS;PCR;SEQ" "DNA" "" "" "0000324278" "00323089" "1" "03704" "00085" "2009-02-18 08:52:52" "00085" "2011-08-25 14:44:23" "PCR;SEQ" "DNA" "" "" "0000324279" "00323090" "1" "00085" "00085" "2014-08-05 14:33:51" "" "" "PCRm;SEQ" "DNA" "" "" "0000324280" "00323091" "1" "03879" "03879" "2014-12-05 14:53:37" "00085" "2015-08-07 15:34:34" "PCR;SEQ" "DNA" "" "" "0000324281" "00323092" "1" "03870" "03870" "2017-04-13 16:25:41" "" "" "MCA;SEQ" "DNA" "" "" "0000324282" "00323093" "1" "03894" "03894" "2018-09-26 12:03:25" "" "" "PCR;SEQ" "DNA" "" "" "0000324283" "00323094" "1" "00085" "00085" "2008-04-14 10:53:24" "00085" "2013-04-24 10:51:22" "CSGE;RT-PCR;SEQ" "RNA" "" "" "0000324284" "00323095" "1" "00085" "00085" "2008-03-14 14:02:14" "00085" "2009-12-01 12:30:41" "?" "?" "" "" "0000324285" "00323096" "1" "03855" "03855" "2010-01-05 15:06:10" "" "" "SEQ" "DNA" "" "" "0000324286" "00323097" "1" "03870" "03870" "2010-04-19 15:22:07" "00085" "2013-04-17 10:00:18" "DHPLC;SEQ" "DNA" "" "" "0000324287" "00323098" "1" "03865" "03865" "2012-06-25 07:19:14" "00085" "2013-08-23 13:57:13" "MS;PCR;SEQ" "DNA" "" "" "0000324288" "00323099" "1" "03897" "00085" "2019-08-29 14:14:07" "00085" "2020-03-29 12:10:10" "SEQ" "DNA" "" "" "0000324289" "00323100" "1" "03855" "03855" "2010-01-05 16:26:19" "" "" "SEQ" "DNA" "" "" "0000324290" "00323101" "1" "00085" "00085" "2008-04-14 11:02:11" "00085" "2009-12-01 12:31:02" "RT-PCR;SEQ;SSCA" "RNA" "" "" "0000324291" "00323102" "1" "00085" "00085" "2008-03-14 14:03:55" "00085" "2013-04-24 09:31:52" "?" "?" "" "" "0000324292" "00323103" "1" "03879" "03879" "2014-12-05 09:09:29" "00085" "2015-08-07 15:32:14" "PCR;SEQ" "DNA" "" "" "0000324293" "00323104" "1" "03879" "03879" "2014-12-05 09:16:51" "00085" "2015-08-07 15:33:52" "PCR;SEQ" "DNA" "" "" "0000324294" "00323105" "1" "00085" "00085" "2018-01-19 10:41:15" "" "" "PCR;SEQ" "DNA" "" "" "0000324295" "00323106" "1" "00085" "00085" "2018-08-03 10:28:18" "" "" "PCR;SEQ" "DNA" "" "" "0000324296" "00323107" "1" "00085" "00085" "2018-08-03 10:29:39" "" "" "PCR;SEQ" "DNA" "" "" "0000324297" "00323108" "1" "00085" "00085" "2018-08-03 10:37:49" "" "" "PCR;SEQ" "DNA" "" "" "0000324298" "00323109" "1" "03894" "03894" "2018-09-26 12:14:51" "" "" "PCR;SEQ" "DNA" "" "" "0000324299" "00323110" "1" "03894" "03894" "2018-09-26 13:56:40" "" "" "PCR;SEQ" "DNA" "" "" "0000324300" "00323111" "1" "00085" "00085" "2019-08-20 09:14:34" "00085" "2019-08-20 09:14:59" "SEQ" "DNA" "" "" "0000324301" "00323112" "1" "03890" "03890" "2018-04-26 11:10:16" "03890" "2018-04-28 08:35:03" "SEQ-NG" "DNA" "" "" "0000324302" "00323113" "1" "03872" "03872" "2016-08-08 16:53:55" "" "" "SEQ-NG" "DNA" "" "" "0000324303" "00323114" "1" "00085" "00085" "2008-03-14 14:05:54" "00085" "2009-12-01 12:31:53" "?" "?" "" "" "0000324304" "00323115" "1" "00085" "00085" "2011-11-02 11:25:10" "00085" "2011-11-02 11:25:35" "DHPLC;PCR;SEQ" "DNA" "" "" "0000324305" "00323116" "1" "03894" "03894" "2019-10-14 03:05:58" "00006" "2021-10-30 10:44:54" "SEQ;SEQ-NG" "DNA" "" "WES" "0000324306" "00323117" "1" "00085" "00085" "2008-04-14 11:09:17" "00085" "2013-04-24 10:51:22" "CSGE;RT-PCR;SEQ" "DNA" "" "" "0000324307" "00323118" "1" "00085" "00085" "2018-01-19 13:43:17" "" "" "PCR;SEQ" "DNA" "" "" "0000324308" "00323119" "1" "00085" "00085" "2014-02-07 12:50:28" "00085" "2014-04-29 09:03:53" "PCR;SEQ" "DNA" "" "" "0000324309" "00323120" "1" "00085" "00085" "2009-03-30 08:32:44" "00085" "2013-04-26 09:30:35" "?" "?" "" "" "0000324310" "00323121" "1" "03870" "03870" "2017-04-13 16:26:39" "" "" "MCA;SEQ" "DNA" "" "" "0000324311" "00323122" "1" "03870" "03870" "2017-04-13 16:27:31" "" "" "MCA;SEQ" "DNA" "" "" "0000324312" "00323123" "1" "03870" "03870" "2017-04-13 16:28:20" "" "" "MCA;SEQ" "DNA" "" "" "0000324313" "00323124" "1" "03870" "03870" "2017-04-13 16:29:13" "" "" "MCA;SEQ" "DNA" "" "" "0000324314" "00323125" "1" "01819" "01819" "2011-09-22 14:34:59" "" "" "PCR;SEQ" "DNA" "" "" "0000324315" "00323126" "1" "00085" "00085" "2008-03-14 14:07:06" "00085" "2009-12-01 12:32:28" "?" "?" "" "" "0000324316" "00323127" "1" "03894" "03894" "2018-09-26 14:10:46" "" "" "PCR;SEQ" "DNA" "" "" "0000324317" "00323128" "1" "00085" "00085" "2008-03-14 14:08:17" "00085" "2014-01-21 15:01:11" "?" "?" "" "" "0000324318" "00323129" "1" "00475" "00475" "2010-01-14 18:04:25" "00085" "2012-01-27 15:11:20" "SEQ" "DNA" "" "" "0000324319" "00323130" "1" "03872" "03872" "2014-07-03 17:50:43" "00085" "2015-03-10 11:50:07" "MCA;SEQ" "DNA" "" "" "0000324320" "00323131" "1" "00085" "00085" "2015-03-10 11:33:02" "00085" "2016-02-16 13:39:13" "PCR;SEQ;arraySEQ" "DNA" "" "" "0000324321" "00323132" "1" "03853" "03853" "2009-08-28 15:49:37" "00085" "2014-08-05 12:52:51" "SEQ" "DNA" "" "" "0000324322" "00323133" "1" "00475" "00475" "2010-01-14 18:12:42" "" "" "SEQ" "DNA" "" "" "0000324323" "00323134" "1" "03870" "03870" "2011-12-21 14:47:24" "00085" "2013-04-22 11:20:55" "DHPLC;SEQ" "DNA" "" "" "0000324324" "00323135" "1" "03870" "03870" "2017-05-26 12:52:41" "" "" "DHPLC;SEQ" "DNA" "" "" "0000324325" "00323136" "1" "00085" "00085" "2019-09-02 11:41:44" "" "" "SEQ" "DNA" "" "" "0000324326" "00323137" "1" "00085" "00085" "2008-03-14 14:09:33" "00085" "2014-01-21 15:08:23" "?" "?" "" "" "0000324327" "00323138" "1" "00085" "00085" "2015-01-23 08:38:30" "" "" "DHPLC;PCR;SEQ" "DNA" "" "" "0000324328" "00323139" "1" "00085" "00085" "2009-11-30 13:22:20" "" "" "?" "?" "" "" "0000324329" "00323140" "1" "00085" "00085" "2008-04-15 08:54:37" "00085" "2013-04-24 10:35:25" "PCR;SEQ" "DNA" "" "" "0000324330" "00323141" "1" "03865" "03865" "2012-06-25 07:23:09" "00085" "2013-08-23 13:57:29" "MS;PCR;SEQ" "DNA" "" "" "0000324331" "00323142" "1" "03894" "03894" "2018-09-26 13:34:55" "00006" "2021-10-30 10:44:54" "PCR;SEQ;SEQ-NG" "DNA" "" "WES" "0000324332" "00323143" "1" "00085" "00085" "2008-04-14 11:14:25" "00085" "2013-04-24 16:57:06" "CSGE;SEQ" "DNA" "" "" "0000324333" "00323144" "1" "03855" "03855" "2010-01-05 16:01:03" "" "" "SEQ" "DNA" "" "" "0000324334" "00323145" "1" "03892" "03892" "2018-01-30 23:09:25" "" "" "SEQ" "DNA" "" "" "0000324335" "00323146" "1" "03894" "03894" "2018-09-26 14:07:19" "" "" "PCR;SEQ" "DNA" "" "" "0000324336" "00323147" "1" "00085" "00085" "2008-03-14 14:11:10" "00085" "2009-12-01 12:34:06" "?" "?" "" "" "0000324337" "00323148" "1" "00085" "00085" "2008-04-14 15:53:38" "00085" "2013-04-24 16:49:07" "PCR;SEQ" "DNA" "" "" "0000324338" "00323149" "1" "03704" "00085" "2009-02-26 13:29:23" "00085" "2011-08-25 14:44:23" "PCR;SEQ" "DNA" "" "" "0000324339" "00323150" "1" "00085" "00085" "2008-03-14 14:12:36" "00085" "2014-01-21 15:08:52" "?" "?" "" "" "0000324340" "00323151" "1" "00085" "00085" "2008-03-14 14:13:17" "00085" "2014-01-21 15:14:14" "?" "?" "" "" "0000324341" "00323152" "1" "00085" "00085" "2008-03-14 14:14:04" "00085" "2014-01-21 15:15:09" "?" "?" "" "" "0000324342" "00323153" "1" "00085" "00085" "2008-03-14 14:14:50" "00085" "2009-12-01 12:35:10" "?" "?" "" "" "0000324343" "00323154" "1" "03704" "00085" "2008-03-14 14:15:34" "00085" "2009-12-01 12:35:27" "?" "?" "" "" "0000324344" "00323155" "1" "03704" "00085" "2008-03-14 14:16:21" "00085" "2009-12-01 12:35:47" "?" "?" "" "" "0000324345" "00323156" "1" "03704" "00085" "2008-03-14 14:17:05" "00085" "2009-12-01 12:37:17" "?" "?" "" "" "0000324346" "00323157" "1" "03704" "00085" "2008-03-14 14:17:52" "00085" "2009-12-01 12:37:33" "?" "?" "" "" "0000324347" "00323158" "1" "03704" "00085" "2008-03-14 14:18:33" "00085" "2009-12-01 12:37:44" "?" "?" "" "" "0000324348" "00323159" "1" "03704" "00085" "2008-03-14 14:19:13" "00085" "2009-12-01 12:37:55" "?" "?" "" "" "0000324349" "00323160" "1" "03704" "00085" "2008-03-14 14:19:56" "00085" "2009-12-01 12:38:05" "?" "?" "" "" "0000324350" "00323161" "1" "03704" "00085" "2008-03-14 14:20:48" "00085" "2009-12-01 12:38:17" "?" "?" "" "" "0000324351" "00323162" "1" "00085" "00085" "2008-03-14 14:21:32" "00085" "2009-12-01 12:38:28" "?" "?" "" "" "0000324352" "00323163" "1" "00085" "00085" "2008-03-14 14:22:17" "00085" "2009-12-01 12:38:37" "?" "?" "" "" "0000324353" "00323164" "1" "00085" "00085" "2008-03-14 14:22:58" "00085" "2009-12-01 12:38:47" "?" "?" "" "" "0000324354" "00323165" "1" "00085" "00085" "2008-03-14 14:23:50" "00085" "2009-12-01 12:38:58" "?" "?" "" "" "0000324355" "00323166" "1" "00085" "00085" "2008-03-14 14:24:43" "00085" "2009-12-01 12:39:07" "?" "?" "" "" "0000324356" "00323167" "1" "00085" "00085" "2008-03-14 14:25:28" "00085" "2009-12-01 12:39:17" "?" "?" "" "" "0000324357" "00323168" "1" "00085" "00085" "2008-04-14 11:37:40" "00085" "2013-04-26 09:28:31" "RT-PCR;SEQ;SSCA" "RNA" "" "" "0000324358" "00323169" "1" "03704" "00085" "2008-04-14 11:51:42" "00085" "2013-04-24 10:43:52" "SEQ" "DNA" "" "" "0000324359" "00323170" "1" "00085" "00085" "2008-04-14 11:54:59" "00085" "2013-04-24 17:00:35" "RT-PCR;SEQ;SSCA" "RNA" "" "" "0000324360" "00323171" "1" "00085" "00085" "2008-04-14 11:56:15" "00085" "2013-04-24 17:00:35" "RT-PCR;SEQ;SSCA" "RNA" "" "" "0000324361" "00323172" "1" "00085" "00085" "2008-04-14 12:03:53" "00085" "2013-08-20 14:40:33" "?" "?" "" "" "0000324362" "00323173" "1" "00085" "00085" "2008-04-14 14:02:01" "00085" "2014-03-19 14:21:13" "?" "?" "" "" "0000324363" "00323174" "1" "00085" "00085" "2008-04-14 15:55:18" "00085" "2013-04-24 16:49:07" "PCR;SEQ" "DNA" "" "" "0000324364" "00323175" "1" "00085" "00085" "2008-04-14 16:02:36" "00085" "2013-04-24 16:49:07" "PCR;SEQ" "DNA" "" "" "0000324365" "00323176" "1" "00085" "00085" "2008-04-14 16:04:09" "00085" "2013-04-24 16:49:07" "PCR;SEQ" "DNA" "" "" "0000324366" "00323177" "1" "00085" "00085" "2008-04-14 16:05:27" "00085" "2013-04-24 16:49:07" "PCR;SEQ" "DNA" "" "" "0000324367" "00323178" "1" "00085" "00085" "2008-04-14 16:06:49" "00085" "2013-04-24 16:49:07" "PCR;SEQ" "DNA" "" "" "0000324368" "00323179" "1" "00085" "00085" "2008-04-15 09:31:40" "00085" "2013-08-20 14:39:45" "DHPLC;PCR;SEQ" "DNA" "" "" "0000324369" "00323180" "1" "03853" "03853" "2009-05-20 14:53:28" "00085" "2013-08-20 14:38:53" "SEQ" "DNA" "" "" "0000324370" "00323181" "1" "00085" "00085" "2011-06-27 13:40:11" "" "" "PCR;SEQ" "DNA" "" "" "0000324371" "00323182" "1" "01819" "01819" "2011-09-27 12:18:26" "" "" "PCR;SEQ" "DNA" "" "" "0000324372" "00323183" "1" "03865" "03865" "2012-06-25 07:25:03" "00085" "2013-08-23 13:58:07" "MS;PCR;SEQ" "DNA" "" "" "0000324373" "00323184" "1" "03865" "03865" "2012-06-25 07:26:30" "00085" "2013-08-23 13:58:31" "MS;PCR;SEQ" "DNA" "" "" "0000324374" "00323185" "1" "03865" "03865" "2012-06-25 07:27:53" "00085" "2013-08-23 13:58:52" "MS;PCR;SEQ" "DNA" "" "" "0000324375" "00323186" "1" "03865" "03865" "2012-06-25 07:32:37" "00085" "2013-08-23 13:59:10" "MS;PCR;SEQ" "DNA" "" "" "0000324376" "00323187" "1" "03865" "03865" "2013-08-22 10:04:51" "" "" "MS;PCR;SEQ" "DNA" "" "" "0000324377" "00323188" "1" "03865" "03865" "2013-08-22 10:06:52" "" "" "MS;PCR;SEQ" "DNA" "" "" "0000324378" "00323189" "1" "03865" "03865" "2013-08-22 10:08:49" "" "" "MS;PCR;SEQ" "DNA" "" "" "0000324379" "00323190" "1" "03865" "03865" "2013-08-22 10:10:08" "" "" "MS;PCR;SEQ" "DNA" "" "" "0000324380" "00323191" "1" "03865" "03865" "2013-08-22 10:11:31" "" "" "MS;PCR;SEQ" "DNA" "" "" "0000324381" "00323192" "1" "00085" "00085" "2014-04-02 10:17:05" "" "" "PCR;SEQ" "DNA" "" "" "0000324382" "00323193" "1" "00085" "00085" "2014-04-02 10:33:43" "" "" "PCR;SEQ" "DNA" "" "" "0000324383" "00323194" "1" "03872" "03872" "2014-07-03 17:22:13" "00085" "2015-09-07 08:46:26" "MCA;SEQ" "DNA" "" "" "0000324384" "00323195" "1" "00085" "00085" "2018-01-19 10:44:00" "" "" "PCR;SEQ" "DNA" "" "" "0000324385" "00323196" "1" "03894" "03894" "2018-09-26 11:08:41" "" "" "PCR;SEQ" "DNA" "" "" "0000324386" "00323197" "1" "03894" "03894" "2018-09-26 11:19:11" "" "" "PCR;SEQ" "DNA" "" "" "0000324387" "00323198" "1" "03894" "03894" "2018-09-26 12:54:02" "" "" "PCR;SEQ" "DNA" "" "" "0000324388" "00323199" "1" "03894" "03894" "2018-09-26 14:03:10" "" "" "PCR;SEQ" "DNA" "" "" "0000324389" "00323200" "1" "03894" "03894" "2018-09-26 14:27:22" "" "" "PCR;SEQ" "DNA" "" "" "0000324390" "00323201" "1" "03894" "03894" "2018-09-27 07:57:33" "" "" "PCR;SEQ" "DNA" "" "" "0000324391" "00323202" "1" "03894" "03894" "2018-09-27 09:09:47" "" "" "PCR;SEQ" "DNA" "" "" "0000324392" "00323203" "1" "03897" "03897" "2020-04-11 18:07:25" "" "" "PCR;SEQ" "DNA" "" "" "0000324393" "00323204" "1" "00085" "00085" "2008-04-14 15:40:32" "00085" "2014-03-19 14:22:07" "RT-PCR;SEQ" "RNA" "" "" "0000324394" "00323205" "1" "03894" "03894" "2018-09-26 14:05:42" "" "" "PCR;SEQ" "DNA" "" "" "0000324395" "00323206" "1" "03704" "00085" "2008-03-14 14:26:34" "00085" "2009-12-01 12:41:59" "?" "?" "" "" "0000324396" "00323207" "1" "00085" "00085" "2014-11-05 09:28:36" "" "" "SEQ" "DNA" "" "" "0000324397" "00323208" "1" "00085" "00085" "2008-04-14 15:46:22" "00085" "2009-12-01 12:42:14" "RT-PCR;SEQ" "RNA" "" "" "0000324398" "00323209" "1" "00085" "00085" "2008-03-14 14:27:39" "00085" "2013-04-24 09:31:52" "?" "?" "" "" "0000324399" "00323210" "1" "00085" "00085" "2008-03-14 14:28:45" "00085" "2009-12-01 12:42:46" "?" "?" "" "" "0000324400" "00323211" "1" "01819" "01819" "2011-09-27 12:20:08" "" "" "PCR;SEQ" "DNA" "" "" "0000324401" "00323212" "1" "03865" "03865" "2012-06-25 07:34:16" "00085" "2013-08-23 13:59:26" "MS;PCR;SEQ" "DNA" "" "" "0000324402" "00323213" "1" "03894" "03894" "2018-09-26 14:29:53" "" "" "PCR;SEQ" "DNA" "" "" "0000324403" "00323214" "1" "00085" "00085" "2008-03-14 14:29:56" "00085" "2014-01-21 15:18:14" "?" "?" "" "" "0000324404" "00323215" "1" "00085" "00085" "2008-03-14 14:30:37" "00085" "2014-01-21 15:20:13" "?" "?" "" "" "0000324405" "00323216" "1" "00085" "00085" "2008-03-14 14:31:15" "00085" "2014-01-21 15:22:34" "?" "?" "" "" "0000324406" "00323217" "1" "00085" "00085" "2008-03-14 14:31:53" "00085" "2014-01-21 15:23:11" "?" "?" "" "" "0000324407" "00323218" "1" "00085" "00085" "2008-03-14 14:32:32" "00085" "2014-01-21 15:26:56" "?" "?" "" "" "0000324408" "00323219" "1" "00085" "00085" "2008-03-14 14:33:17" "00085" "2009-12-01 12:43:59" "?" "?" "" "" "0000324409" "00323220" "1" "03704" "00085" "2008-03-14 14:33:59" "00085" "2009-12-01 12:44:09" "?" "?" "" "" "0000324410" "00323221" "1" "03704" "00085" "2008-03-14 14:34:41" "00085" "2009-12-01 12:44:18" "?" "?" "" "" "0000324411" "00323222" "1" "00085" "00085" "2008-03-14 14:35:26" "00085" "2009-12-01 12:44:27" "?" "?" "" "" "0000324412" "00323223" "1" "00085" "00085" "2008-03-14 14:36:11" "00085" "2009-12-01 12:44:36" "?" "?" "" "" "0000324413" "00323224" "1" "00085" "00085" "2008-03-14 14:36:52" "00085" "2009-12-01 12:44:46" "?" "?" "" "" "0000324414" "00323225" "1" "00085" "00085" "2008-04-07 16:04:44" "00085" "2014-04-07 09:08:21" "PCR;SEQ" "DNA" "" "" "0000324415" "00323226" "1" "00085" "00085" "2008-04-15 08:44:03" "00085" "2012-06-14 11:09:34" "RT-PCR;SEQ" "RNA" "" "" "0000324416" "00323227" "1" "00085" "00085" "2008-04-15 08:48:21" "00085" "2012-06-14 11:08:18" "PCR;SEQ" "DNA" "" "" "0000324417" "00323228" "1" "03855" "03855" "2010-01-05 15:17:09" "" "" "SEQ" "DNA" "" "" "0000324418" "00323229" "1" "03855" "03855" "2010-01-05 15:50:48" "" "" "SEQ" "DNA" "" "" "0000324419" "00323230" "1" "03855" "03855" "2010-01-05 15:54:09" "" "" "SEQ" "DNA" "" "" "0000324420" "00323231" "1" "03855" "03855" "2010-01-05 16:21:59" "" "" "SEQ" "DNA" "" "" "0000324421" "00323232" "1" "03855" "03855" "2010-01-05 16:37:44" "" "" "SEQ" "DNA" "" "" "0000324422" "00323233" "1" "00475" "00475" "2010-01-15 13:56:48" "" "" "SEQ" "DNA" "" "" "0000324423" "00323234" "1" "00085" "00085" "2011-06-27 13:42:38" "" "" "PCR;SEQ" "DNA" "" "" "0000324424" "00323235" "1" "01819" "01819" "2011-09-27 12:21:26" "" "" "PCR;SEQ" "DNA" "" "" "0000324425" "00323236" "1" "03870" "03870" "2012-03-02 09:27:25" "00085" "2013-04-17 10:00:18" "DHPLC;SEQ" "DNA" "" "" "0000324426" "00323237" "1" "03879" "03879" "2014-12-02 10:50:24" "00085" "2015-08-07 15:32:48" "PCR" "DNA" "" "" "0000324427" "00323238" "1" "03879" "03879" "2014-12-02 10:53:43" "00085" "2015-08-07 15:31:28" "PCR" "DNA" "" "" "0000324428" "00323239" "1" "03879" "03879" "2014-12-03 12:00:20" "00085" "2015-08-07 15:30:48" "PCR;SEQ" "DNA" "" "" "0000324429" "00323240" "1" "03879" "03879" "2014-12-04 10:44:28" "00085" "2015-08-07 15:30:17" "PCR;SEQ" "DNA" "" "" "0000324430" "00323241" "1" "03879" "03879" "2014-12-08 13:59:05" "00085" "2015-08-07 15:29:20" "PCR;SEQ" "DNA" "" "" "0000324431" "00323242" "1" "00085" "00085" "2017-03-15 16:11:57" "" "" "SEQ-NG" "DNA" "" "" "0000324432" "00323243" "1" "03870" "03870" "2017-05-26 12:57:57" "" "" "MCA;SEQ" "DNA" "" "" "0000324433" "00323244" "1" "03870" "03870" "2017-05-26 13:01:42" "" "" "MCA;SEQ" "DNA" "" "" "0000324434" "00323245" "1" "00085" "00085" "2018-01-19 10:01:26" "" "" "PCR;SEQ" "DNA" "" "" "0000324435" "00323246" "1" "03894" "03894" "2018-09-26 11:29:36" "" "" "PCR;SEQ" "DNA" "" "" "0000324436" "00323247" "1" "03894" "03894" "2018-09-26 11:55:54" "03894" "2018-09-28 07:00:02" "PCR;SEQ" "DNA" "" "" "0000324437" "00323248" "1" "03894" "03894" "2018-09-26 12:41:59" "" "" "PCR;SEQ" "DNA" "" "" "0000324438" "00323249" "1" "03894" "03894" "2018-09-26 12:51:44" "" "" "PCR;SEQ" "DNA" "" "" "0000324439" "00323250" "1" "03894" "03894" "2018-09-26 14:23:11" "" "" "PCR;SEQ" "DNA" "" "" "0000324440" "00323251" "1" "03897" "00085" "2019-08-28 16:10:46" "" "" "SEQ" "DNA" "" "" "0000324441" "00323252" "1" "00085" "00085" "2019-09-02 11:43:55" "" "" "SEQ" "DNA" "" "" "0000324442" "00323253" "1" "00085" "00085" "2019-09-02 11:45:26" "" "" "SEQ" "DNA" "" "" "0000324443" "00323254" "1" "03897" "03897" "2020-04-11 18:09:35" "" "" "PCR;SEQ" "DNA" "" "" "0000324444" "00323255" "1" "03704" "00085" "2008-03-14 14:38:01" "00085" "2009-12-01 12:45:30" "?" "?" "" "" "0000324445" "00323256" "1" "00085" "00085" "2008-04-14 16:54:14" "00085" "2013-08-20 14:44:10" "RT-PCR;SEQ;NUC" "RNA" "" "" "0000324446" "00323257" "1" "00085" "00085" "2008-04-15 08:38:30" "00085" "2013-08-20 14:43:30" "RT-PCR;SEQ" "RNA" "" "" "0000324447" "00323258" "1" "03865" "03865" "2012-06-25 07:36:11" "00085" "2013-08-23 13:59:44" "MS;PCR;SEQ" "DNA" "" "" "0000324448" "00323259" "1" "03865" "03865" "2013-08-22 10:13:06" "" "" "MS;PCR;SEQ" "DNA" "" "" "0000324449" "00323260" "1" "00085" "00085" "2018-01-22 12:57:25" "" "" "PCR;SEQ" "DNA" "" "" "0000324450" "00323261" "1" "00085" "00085" "2008-04-15 09:38:57" "00085" "2013-04-24 10:51:22" "CSGE;RT-PCR;SEQ" "RNA" "" "" "0000324451" "00323262" "1" "03855" "03855" "2010-01-05 16:30:56" "00085" "2010-04-08 09:14:50" "SEQ" "DNA" "" "" "0000324452" "00323263" "1" "00085" "00085" "2008-03-14 14:40:58" "00085" "2009-12-01 12:46:14" "?" "?" "" "" "0000324453" "00323264" "1" "03704" "00085" "2008-03-14 14:39:43" "00085" "2009-12-01 12:46:31" "?" "?" "" "" "0000324454" "00323265" "1" "03853" "03853" "2009-08-28 15:51:51" "" "" "SEQ" "DNA" "" "" "0000324455" "00323266" "1" "01819" "01819" "2011-09-27 12:22:45" "" "" "PCR;SEQ" "DNA" "" "" "0000324456" "00323267" "1" "01819" "01819" "2011-09-27 12:24:12" "" "" "PCR;SEQ" "DNA" "" "" "0000324457" "00323268" "1" "03870" "03870" "2017-05-26 13:05:20" "" "" "SEQ" "DNA" "" "" "0000324458" "00323269" "1" "00085" "00085" "2009-11-30 13:23:53" "" "" "?" "?" "" "" "0000324459" "00323270" "1" "00085" "00085" "2014-08-05 15:36:25" "" "" "PCRm;SEQ" "DNA" "" "" "0000324460" "00323271" "1" "01819" "01819" "2016-11-28 13:37:19" "" "" "PCR;SEQ" "DNA" "" "" "0000324461" "00323272" "1" "00085" "00085" "2008-06-17 15:40:44" "00085" "2013-04-26 09:53:37" "PCR;RT-PCR;SEQ;NUC;SSCA" "DNA;RNA" "" "" "0000324462" "00323273" "1" "03702" "00085" "2008-06-17 16:06:31" "00085" "2012-03-07 15:54:37" "PAGE;PCR;RT-PCR;SEQ;?" "?" "" "" "0000324463" "00323274" "1" "03704" "00085" "2011-03-30 13:54:30" "" "" "PCR;SEQ" "DNA" "" "" "0000324464" "00323275" "1" "00085" "00085" "2012-08-08 10:55:37" "" "" "PCR;SEQ" "DNA" "" "" "0000324465" "00323276" "1" "00085" "00085" "2008-08-05 11:51:24" "00085" "2012-07-10 13:47:45" "PCR;SEQ" "DNA" "" "" "0000324466" "00323277" "1" "00085" "00085" "2008-06-17 16:24:30" "00085" "2013-04-24 10:35:25" "PCR;SEQ" "DNA" "" "" "0000324467" "00323278" "1" "00085" "00085" "2014-03-14 11:01:58" "" "" "SEQ" "DNA" "" "" "0000324468" "00323279" "1" "00085" "00085" "2008-08-05 12:48:24" "00085" "2012-07-10 13:42:50" "CMC;PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000324469" "00323280" "1" "03870" "03870" "2010-09-30 14:36:48" "00085" "2013-04-17 10:00:18" "DHPLC;SEQ" "DNA" "" "" "0000324471" "00323282" "1" "00085" "00085" "2014-08-05 15:50:22" "" "" "PCRm;SEQ" "DNA" "" "" "0000324472" "00323283" "1" "00085" "00085" "2008-03-14 15:00:26" "00085" "2014-03-19 14:25:47" "?" "?" "" "" "0000324473" "00323284" "1" "00085" "00085" "2017-03-15 16:06:26" "" "" "SEQ-NG" "DNA" "" "" "0000324474" "00323285" "1" "03704" "00085" "2008-03-14 14:58:48" "00085" "2009-12-01 12:48:31" "?" "?" "" "" "0000324475" "00323286" "1" "00085" "00085" "2008-03-14 15:01:35" "00085" "2009-12-01 12:48:45" "?" "?" "" "" "0000324476" "00323287" "1" "03879" "03879" "2014-12-03 09:33:28" "00085" "2015-08-07 15:28:44" "PCR" "DNA" "" "" "0000324477" "00323288" "1" "03704" "00085" "2008-04-15 11:44:22" "00085" "2014-04-29 13:52:39" "RT-PCR;SEQ" "RNA" "" "" "0000324478" "00323289" "1" "00085" "00085" "2019-08-19 16:21:41" "00085" "2019-08-19 16:22:41" "SEQ" "DNA" "" "" "0000324479" "00323290" "1" "03855" "03855" "2010-01-05 15:42:27" "" "" "SEQ" "DNA" "" "" "0000324480" "00323291" "1" "03855" "03855" "2010-01-05 15:57:27" "" "" "SEQ" "DNA" "" "" "0000324481" "00323292" "1" "00085" "00085" "2008-03-14 15:02:39" "00085" "2012-12-07 09:30:35" "?" "?" "" "" "0000324482" "00323293" "1" "00085" "00085" "2008-04-15 15:08:23" "00085" "2012-12-07 09:28:48" "PCR;SEQ" "DNA" "" "" "0000324483" "00323294" "1" "03702" "00085" "2008-04-15 15:10:41" "00085" "2012-12-07 09:27:34" "PAGE;PCR;RT-PCR;SEQ;?" "?" "" "" "0000324484" "00323295" "1" "01819" "01819" "2011-09-27 12:25:50" "" "" "PCR;SEQ" "DNA" "" "" "0000324485" "00323296" "1" "03867" "03867" "2012-12-06 12:10:13" "" "" "PCR;SEQ" "DNA" "" "" "0000324486" "00323297" "1" "00085" "00085" "2015-10-01 14:42:11" "" "" "?" "?" "" "" "0000324487" "00323298" "1" "00085" "00085" "2015-10-07 15:16:20" "" "" "SEQ-NG" "DNA" "" "" "0000324488" "00323299" "1" "01819" "01819" "2016-11-28 13:33:02" "" "" "PCR;SEQ" "DNA" "" "" "0000324489" "00323300" "1" "03894" "03894" "2018-09-26 13:25:08" "" "" "PCR;SEQ" "DNA" "" "" "0000324490" "00323301" "1" "00085" "00085" "2008-04-15 15:46:13" "00085" "2013-04-26 09:45:24" "RT-PCR;SEQ" "RNA" "" "" "0000324491" "00323302" "1" "00085" "00085" "2018-01-19 09:30:43" "00085" "2018-01-19 09:31:29" "PCR;SEQ" "DNA" "" "" "0000324492" "00323303" "1" "00085" "00085" "2017-03-16 13:40:17" "" "" "SEQ-NG" "DNA" "" "" "0000324493" "00323304" "1" "00085" "00085" "2019-08-30 10:45:35" "00085" "2019-08-30 10:45:45" "SEQ" "DNA" "" "" "0000324494" "00323305" "1" "00085" "00085" "2019-08-30 10:47:17" "" "" "SEQ" "DNA" "" "" "0000324495" "00323306" "1" "03894" "03894" "2018-09-26 12:49:36" "03894" "2018-09-27 14:24:49" "PCR;SEQ" "DNA" "" "" "0000324496" "00323307" "1" "00085" "00085" "2008-04-15 15:54:34" "00085" "2014-04-30 12:00:12" "RT-PCR;SEQ;CSGE" "RNA" "" "" "0000324497" "00323308" "1" "00085" "00085" "2018-01-19 09:41:26" "" "" "PCR;SEQ" "DNA" "" "" "0000324498" "00323309" "1" "00085" "00085" "2008-04-15 16:09:03" "00085" "2012-07-30 11:40:19" "CSGE;RT-PCR;SEQ" "RNA" "" "" "0000324499" "00323310" "1" "00085" "00085" "2014-04-02 10:37:14" "" "" "PCR;SEQ" "DNA" "" "" "0000324500" "00323311" "1" "00085" "00085" "2008-03-14 15:03:45" "00085" "2009-12-01 12:50:51" "?" "?" "" "" "0000324501" "00323312" "1" "00085" "00085" "2008-04-16 16:16:50" "00085" "2013-04-26 09:45:24" "RT-PCR;SEQ" "RNA" "" "" "0000324502" "00323313" "1" "00085" "00085" "2008-04-16 16:41:28" "00085" "2013-04-24 16:57:06" "CSGE;PCR;SEQ" "DNA" "" "" "0000324503" "00323314" "1" "00085" "00085" "2017-03-16 13:24:42" "" "" "SEQ-NG" "DNA" "" "" "0000324504" "00323315" "1" "03894" "03894" "2018-09-27 13:29:39" "03894" "2018-09-28 07:00:44" "PCR;SEQ" "DNA" "" "" "0000324505" "00323316" "1" "00085" "00085" "2008-04-17 09:22:55" "00085" "2013-04-26 09:45:24" "RT-PCR;SEQ" "RNA" "" "" "0000324506" "00323317" "1" "03704" "00085" "2011-02-18 09:24:48" "" "" "PCR;SEQ" "DNA" "" "" "0000324507" "00323318" "1" "03894" "03894" "2018-09-26 13:42:02" "" "" "PCR;SEQ" "DNA" "" "" "0000324508" "00323319" "1" "00085" "00085" "2008-03-14 15:05:07" "00085" "2014-01-21 15:30:12" "?" "?" "" "" "0000324509" "00323320" "1" "00085" "00085" "2015-03-10 11:22:34" "00085" "2016-02-16 13:35:43" "PCR;SEQ;arraySEQ" "DNA" "" "" "0000324510" "00323321" "1" "03894" "03894" "2018-09-26 12:55:00" "" "" "PCR;SEQ" "DNA" "" "" "0000324511" "00323322" "1" "03865" "03865" "2012-06-25 07:37:48" "00085" "2013-08-23 14:00:12" "MS;PCR;SEQ" "DNA" "" "" "0000324512" "00323323" "1" "03894" "03894" "2018-09-27 05:44:00" "" "" "PCR;SEQ" "DNA" "" "" "0000324513" "00323324" "1" "03870" "03870" "2011-06-22 13:13:20" "00085" "2013-04-22 11:21:46" "DHPLC;SEQ" "DNA" "" "" "0000324514" "00323325" "1" "00085" "00085" "2008-03-14 15:06:28" "00085" "2014-01-21 15:30:55" "?" "?" "" "" "0000324515" "00323326" "1" "03879" "03879" "2014-12-05 09:21:40" "00085" "2015-08-07 15:28:18" "PCR;SEQ" "DNA" "" "" "0000324516" "00323327" "1" "03704" "00085" "2008-03-14 15:09:27" "00085" "2009-12-01 12:52:23" "?" "?" "" "" "0000324517" "00323328" "1" "03704" "00085" "2008-03-14 15:10:08" "00085" "2009-12-01 12:52:36" "?" "?" "" "" "0000324518" "00323329" "1" "00085" "00085" "2008-03-14 15:12:03" "00085" "2013-04-24 09:31:52" "?" "?" "" "" "0000324519" "00323330" "1" "03885" "00085" "2017-03-13 14:56:54" "" "" "SEQ" "DNA" "" "" "0000324520" "00323331" "1" "00085" "00085" "2008-03-14 15:13:15" "00085" "2012-12-12 15:03:45" "?" "?" "" "" "0000324521" "00323332" "1" "03870" "03870" "2008-10-27 15:16:24" "00085" "2013-04-17 10:00:18" "DHPLC;SEQ" "DNA" "" "" "0000324522" "00323333" "1" "03855" "03855" "2010-01-05 16:36:38" "" "" "SEQ" "DNA" "" "" "0000324523" "00323334" "1" "00085" "00085" "2012-12-12 15:16:57" "00085" "2013-03-06 11:53:15" "PCR;SEQ" "DNA" "" "" "0000324524" "00323335" "1" "03879" "03879" "2014-12-08 11:53:42" "00085" "2015-08-07 15:27:38" "PCR;SEQ" "DNA" "" "" "0000324525" "00323336" "1" "00085" "00085" "2018-08-29 11:34:11" "" "" "PCR;SEQ;SEQ-NG" "DNA" "" "" "0000324526" "00323337" "1" "00085" "00085" "2008-04-17 09:27:56" "00085" "2012-12-12 15:26:19" "RT-PCR;SEQ;CSGE" "RNA" "" "" "0000324527" "00323338" "1" "03885" "03885" "2016-10-06 15:40:10" "" "" "SEQ" "DNA" "" "" "0000324528" "00323339" "1" "03704" "00085" "2009-02-18 08:55:29" "00085" "2011-08-25 14:44:23" "PCR;SEQ" "DNA" "" "" "0000324529" "00323340" "1" "00085" "00085" "2008-08-05 13:04:53" "00085" "2012-07-10 13:44:47" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000324530" "00323341" "1" "00085" "00085" "2008-08-05 13:32:16" "00085" "2012-07-10 13:43:43" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000324531" "00323342" "1" "03704" "00085" "2008-08-05 13:33:43" "00085" "2009-12-01 12:54:11" "?" "?" "" "" "0000324532" "00323343" "1" "03855" "03855" "2009-12-30 11:49:07" "" "" "SEQ" "DNA" "" "" "0000324533" "00323344" "1" "03870" "03870" "2010-04-19 15:28:19" "00085" "2013-04-17 10:00:18" "DHPLC;SEQ" "DNA" "" "" "0000324534" "00323345" "1" "03879" "03879" "2014-12-05 13:33:35" "00085" "2015-08-07 15:26:29" "PCR;SEQ" "DNA" "" "" "0000324535" "00323346" "1" "03872" "03872" "2015-01-17 19:08:50" "" "" "MCA;PCR;SEQ" "DNA" "" "" "0000324536" "00323347" "1" "03894" "03894" "2018-09-26 11:25:30" "" "" "PCR;SEQ" "DNA" "" "" "0000324537" "00323348" "1" "03894" "03894" "2018-09-26 14:06:33" "" "" "PCR;SEQ" "DNA" "" "" "0000324538" "00323349" "1" "03704" "00085" "2008-08-05 13:35:37" "00085" "2009-12-01 12:54:26" "?" "?" "" "" "0000324539" "00323350" "1" "03855" "03855" "2009-12-30 12:07:12" "" "" "SEQ" "DNA" "" "" "0000324540" "00323351" "1" "03702" "03702" "2010-08-11 12:05:47" "00085" "2010-08-13 13:13:16" "PAGE;PCR;RT-PCR;SEQ" "RNA" "" "" "0000324541" "00323352" "1" "00085" "00085" "2016-07-26 14:19:13" "00085" "2016-07-26 15:33:09" "PCR;SEQ" "DNA" "" "" "0000324542" "00323353" "1" "03872" "03872" "2015-01-17 18:50:22" "" "" "MCA;PCR;SEQ" "DNA" "" "" "0000324543" "00323354" "1" "00085" "00085" "2019-08-16 16:15:58" "00085" "2019-08-23 16:03:15" "SEQ" "DNA" "" "" "0000324544" "00323355" "1" "00085" "00085" "2008-04-17 09:33:18" "00085" "2013-04-24 16:57:06" "CSGE;PCR;SEQ" "DNA" "" "" "0000324545" "00323356" "1" "03897" "03897" "2020-04-11 18:21:54" "" "" "PCR;SEQ" "DNA" "" "" "0000324546" "00323357" "1" "00085" "00085" "2008-03-14 15:14:18" "00085" "2014-01-21 15:31:45" "?" "?" "" "" "0000324547" "00323358" "1" "00085" "00085" "2008-04-17 09:58:09" "00085" "2014-04-29 13:53:46" "RT-PCR;SEQ;NUC" "RNA" "" "" "0000324548" "00323359" "1" "00085" "00085" "2008-03-14 15:15:20" "00085" "2009-12-01 12:55:23" "?" "?" "" "" "0000324549" "00323360" "1" "00085" "00085" "2008-03-14 15:16:32" "00085" "2014-01-21 15:23:48" "?" "?" "" "" "0000324550" "00323361" "1" "03894" "03894" "2018-09-27 05:41:58" "" "" "PCR;SEQ" "DNA" "" "" "0000324553" "00323364" "1" "03879" "03879" "2014-12-08 14:32:29" "00085" "2015-08-07 15:23:47" "PCR;SEQ" "DNA" "" "" "0000324554" "00323365" "1" "03879" "03879" "2014-12-10 10:45:07" "00085" "2015-08-07 15:23:07" "PCR;SEQ" "DNA" "" "" "0000324555" "00323366" "1" "03894" "03894" "2018-09-26 13:59:37" "00006" "2021-10-30 10:44:54" "PCR;SEQ;SEQ-NG" "DNA" "" "WES" "0000324556" "00323367" "1" "00085" "00085" "2008-03-14 15:17:33" "00085" "2014-01-21 15:33:38" "?" "?" "" "" "0000324557" "00323368" "1" "01819" "01819" "2011-09-27 12:28:31" "" "" "PCR;SEQ" "DNA" "" "" "0000324558" "00323369" "1" "00085" "00085" "2014-11-05 09:12:24" "" "" "SEQ" "DNA" "" "" "0000324559" "00323370" "1" "00085" "00085" "2014-11-05 09:14:54" "00085" "2014-11-05 09:16:51" "SEQ" "DNA" "" "" "0000324560" "00323371" "1" "03704" "00085" "2008-03-14 15:18:39" "00085" "2012-08-03 07:40:22" "?" "?" "" "" "0000324561" "00323372" "1" "00085" "00085" "2008-03-14 15:19:37" "00085" "2014-04-30 13:08:05" "?" "?" "" "" "0000324562" "00323373" "1" "03855" "03855" "2010-01-05 16:19:52" "" "" "SEQ" "DNA" "" "" "0000324563" "00323374" "1" "03704" "00085" "2008-03-14 15:20:39" "00085" "2009-12-01 12:57:22" "?" "?" "" "" "0000324564" "00323375" "1" "00085" "00085" "2008-04-17 10:42:01" "00085" "2009-12-01 12:57:32" "RT-PCR;SEQ;SSCA" "RNA" "" "" "0000324565" "00323376" "1" "00085" "00085" "2012-11-28 15:29:37" "00085" "2012-11-28 15:29:59" "?" "DNA" "" "" "0000324566" "00323377" "1" "00085" "00085" "2015-03-10 12:58:57" "00085" "2016-02-16 13:39:51" "PCR;SEQ;arraySEQ" "DNA" "" "" "0000324567" "00323378" "1" "00475" "00475" "2010-01-15 13:16:53" "" "" "SEQ" "DNA" "" "" "0000324568" "00323379" "1" "00085" "00085" "2013-10-25 09:28:19" "00085" "2013-10-25 09:34:35" "PCR;SEQ" "DNA" "" "" "0000324569" "00323380" "1" "01819" "01819" "2011-09-27 12:31:01" "" "" "PCR;SEQ" "DNA" "" "" "0000324570" "00323381" "1" "03885" "03885" "2016-10-06 15:49:20" "" "" "SEQ" "DNA" "" "" "0000324571" "00323382" "1" "00085" "00085" "2008-03-14 15:23:54" "00085" "2009-12-01 12:57:47" "?" "?" "" "" "0000324572" "00323383" "1" "00085" "00085" "2008-03-14 15:25:14" "00085" "2009-12-01 12:58:01" "?" "?" "" "" "0000324573" "00323384" "1" "01819" "01819" "2011-09-27 12:33:02" "" "" "PCR;SEQ" "DNA" "" "" "0000324574" "00323385" "1" "03704" "00085" "2008-03-14 15:26:27" "00085" "2009-12-01 12:58:15" "?" "?" "" "" "0000324575" "00323386" "1" "03704" "00085" "2009-02-18 08:57:14" "00085" "2013-04-24 09:45:15" "PCR;SEQ" "DNA" "" "" "0000324576" "00323387" "1" "03704" "00085" "2011-02-18 09:27:01" "" "" "PCR;SEQ" "DNA" "" "" "0000324577" "00323388" "1" "03870" "03870" "2009-11-25 16:41:57" "00085" "2013-04-17 10:00:18" "DHPLC;SEQ" "DNA" "" "" "0000324578" "00323389" "1" "00085" "00085" "2015-07-28 09:38:39" "" "" "SEQ-NG" "DNA" "" "" "0000324579" "00323390" "1" "03704" "00085" "2009-02-18 09:14:34" "00085" "2014-04-29 09:09:44" "PCR;SEQ" "DNA" "" "" "0000324580" "00323391" "1" "00085" "00085" "2008-03-14 15:27:31" "00085" "2009-12-01 12:58:43" "?" "?" "" "" "0000324581" "00323392" "1" "00085" "00085" "2008-03-14 15:28:18" "00085" "2009-12-01 12:58:54" "?" "?" "" "" "0000324582" "00323393" "1" "00085" "00085" "2008-03-14 15:28:56" "00085" "2009-12-01 12:59:04" "?" "?" "" "" "0000324583" "00323394" "1" "03704" "00085" "2008-03-14 15:29:39" "00085" "2009-12-01 12:59:14" "?" "?" "" "" "0000324584" "00323395" "1" "00085" "00085" "2008-03-14 15:30:25" "00085" "2009-12-01 12:59:26" "?" "?" "" "" "0000324585" "00323396" "1" "00085" "00085" "2008-03-14 15:31:08" "00085" "2014-01-21 15:32:36" "?" "?" "" "" "0000324586" "00323397" "1" "00085" "00085" "2008-03-14 15:31:50" "00085" "2014-01-21 15:34:19" "?" "?" "" "" "0000324587" "00323398" "1" "00085" "00085" "2008-04-17 11:39:54" "00085" "2013-04-24 16:46:33" "RT-PCR;SEQ" "RNA" "" "" "0000324588" "00323399" "1" "00085" "00085" "2008-04-17 11:43:32" "00085" "2013-04-24 16:57:06" "CSGE;SEQ" "DNA" "" "" "0000324589" "00323400" "1" "03702" "03702" "2008-09-03 21:15:35" "03702" "2010-08-13 12:22:12" "PAGE;PCR;RT-PCR;SEQ" "RNA" "" "" "0000324590" "00323401" "1" "03853" "03853" "2009-02-06 13:22:30" "00085" "2009-12-01 13:00:42" "SEQ" "DNA" "" "" "0000324591" "00323402" "1" "03870" "03870" "2010-09-02 13:11:00" "00085" "2013-04-17 10:00:18" "DHPLC;SEQ" "DNA" "" "" "0000324592" "00323403" "1" "01819" "01819" "2011-09-27 12:34:17" "" "" "PCR;SEQ" "DNA" "" "" "0000324593" "00323404" "1" "01819" "01819" "2011-09-27 12:35:26" "" "" "PCR;SEQ" "DNA" "" "" "0000324594" "00323405" "1" "00085" "00085" "2015-12-10 09:07:04" "" "" "PCR;SEQ" "DNA" "" "" "0000324595" "00323406" "1" "00085" "00085" "2018-01-19 10:19:29" "" "" "PCR;SEQ" "DNA" "" "" "0000324596" "00323407" "1" "03891" "03891" "2018-06-14 14:32:44" "00085" "2018-06-22 10:38:31" "SEQ" "DNA" "" "" "0000324597" "00323408" "1" "03704" "00085" "2009-02-25 10:55:53" "00085" "2011-08-25 14:44:23" "PCR;SEQ" "DNA" "" "" "0000324598" "00323409" "1" "03704" "00085" "2008-04-17 12:01:16" "00085" "2009-12-01 13:01:19" "CSGE;PCR;SEQ" "DNA" "" "" "0000324599" "00323410" "1" "03879" "03879" "2014-12-08 16:01:45" "00085" "2015-08-07 15:22:21" "PCR;SEQ" "DNA" "" "" "0000324600" "00323411" "1" "00085" "00085" "2017-03-15 16:09:15" "" "" "SEQ-NG" "DNA" "" "" "0000324601" "00323412" "1" "03894" "03894" "2018-09-26 12:08:47" "" "" "PCR;SEQ" "DNA" "" "" "0000324602" "00323413" "1" "00085" "00085" "2014-11-05 09:04:15" "" "" "SEQ" "DNA" "" "" "0000324603" "00323414" "1" "00085" "00085" "2008-03-14 15:33:06" "00085" "2009-12-01 13:01:37" "?" "?" "" "" "0000324604" "00323415" "1" "03879" "03879" "2014-12-08 13:28:25" "00085" "2015-08-07 15:09:04" "PCR;SEQ" "DNA" "" "" "0000324605" "00323416" "1" "00085" "00085" "2008-03-14 15:34:04" "00085" "2009-12-01 13:01:58" "?" "?" "" "" "0000324606" "00323417" "1" "03702" "03702" "2008-09-03 21:19:09" "00085" "2010-08-13 13:32:05" "PAGE;PCR;RT-PCR;SEQ" "RNA" "" "" "0000324607" "00323418" "1" "00085" "00085" "2009-02-26 13:32:36" "00085" "2014-04-29 13:55:38" "PCR;SEQ" "DNA" "" "" "0000324608" "00323419" "1" "03867" "03867" "2012-12-06 12:02:46" "00085" "2012-12-07 09:24:03" "PCR;SEQ" "DNA" "" "" "0000324609" "00323420" "1" "00085" "00085" "2009-11-30 13:26:51" "" "" "?" "?" "" "" "0000324610" "00323421" "1" "00085" "00085" "2008-03-14 15:35:13" "00085" "2009-12-01 13:02:40" "?" "?" "" "" "0000324611" "00323422" "1" "00085" "00085" "2018-01-19 09:49:17" "" "" "PCR;SEQ" "DNA" "" "" "0000324612" "00323423" "1" "00085" "00085" "2018-08-29 11:46:57" "" "" "PCR;SEQ;SEQ-NG" "DNA" "" "" "0000324613" "00323424" "1" "00085" "00085" "2008-04-17 14:40:02" "00085" "2013-04-26 09:45:24" "RT-PCR;SEQ" "RNA" "" "" "0000324614" "00323425" "1" "03870" "03870" "2017-05-26 13:11:50" "" "" "MCA;SEQ" "DNA" "" "" "0000324615" "00323426" "1" "03704" "00085" "2008-04-17 14:49:57" "00085" "2013-04-24 09:19:57" "?" "?" "" "" "0000324616" "00323427" "1" "00085" "00085" "2008-03-14 15:38:32" "00085" "2009-12-01 13:03:13" "?" "?" "" "" "0000324617" "00323428" "1" "00085" "00085" "2014-04-02 10:44:55" "" "" "PCR;SEQ" "DNA" "" "" "0000324618" "00323429" "1" "03894" "03894" "2018-09-27 09:14:42" "" "" "PCR;SEQ" "DNA" "" "" "0000324619" "00323430" "1" "00085" "00085" "2015-08-04 14:47:50" "00085" "2017-02-07 11:32:56" "SEQ-NG" "DNA" "" "" "0000324620" "00323431" "1" "00085" "00085" "2008-03-14 15:39:59" "00085" "2009-12-01 13:03:30" "?" "?" "" "" "0000324621" "00323432" "1" "00085" "00085" "2012-08-08 10:46:09" "" "" "DHPLC;PCR;SEQ" "DNA" "" "" "0000324622" "00323433" "1" "00085" "00085" "2008-08-05 14:27:49" "00085" "2009-12-01 13:03:50" "?" "?" "" "" "0000324623" "00323434" "1" "03702" "00085" "2008-08-05 14:33:33" "00085" "2010-08-13 13:32:30" "PAGE;PCR;RT-PCR;SEQ;?" "?" "" "" "0000324624" "00323435" "1" "00085" "00085" "2009-11-30 13:28:14" "" "" "?" "?" "" "" "0000324625" "00323436" "1" "00085" "00085" "2008-03-14 15:41:06" "00085" "2013-04-24 09:31:52" "?" "?" "" "" "0000324626" "00323437" "1" "03894" "03894" "2018-09-27 08:00:09" "" "" "PCR;SEQ" "DNA" "" "" "0000324627" "00323438" "1" "00085" "00085" "2008-03-14 15:42:15" "00085" "2014-03-19 14:26:37" "?" "?" "" "" "0000324628" "00323439" "1" "03855" "03855" "2010-01-05 15:26:21" "00085" "2010-03-30 13:42:36" "SEQ" "DNA" "" "" "0000324629" "00323440" "1" "03855" "03855" "2010-01-05 16:02:02" "" "" "SEQ" "DNA" "" "" "0000324630" "00323441" "1" "00085" "00085" "2008-04-18 10:05:02" "00085" "2013-08-06 14:39:41" "RT-PCR;SEQ" "RNA" "" "" "0000324631" "00323442" "1" "00085" "00085" "2008-03-14 15:43:14" "00085" "2014-01-21 15:00:35" "?" "?" "" "" "0000324632" "00323443" "1" "03870" "03870" "2014-06-04 15:24:41" "" "" "PCR;SEQ" "DNA" "" "" "0000324633" "00323444" "1" "00085" "00085" "2014-04-02 11:10:11" "" "" "PCR;SEQ" "DNA" "" "" "0000324634" "00323445" "1" "00085" "00085" "2008-03-14 15:44:15" "00085" "2009-12-01 13:05:43" "?" "?" "" "" "0000324635" "00323446" "1" "00085" "00085" "2008-04-18 10:10:06" "00085" "2014-04-29 13:56:36" "RT-PCR;SEQ;CMC" "RNA" "" "" "0000324636" "00323447" "1" "03853" "03853" "2009-10-06 13:26:37" "00085" "2009-10-20 11:13:07" "SEQ" "DNA" "" "" "0000324637" "00323448" "1" "03867" "03867" "2014-05-28 12:06:17" "03701" "2020-11-18 12:21:06" "PCR;SEQ" "DNA;protein" "" "" "0000324638" "00323449" "1" "00085" "00085" "2008-08-05 14:49:13" "00085" "2012-07-10 13:41:58" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000324639" "00323450" "1" "03853" "03853" "2009-12-18 15:28:32" "00085" "2014-08-05 12:54:20" "SEQ" "DNA" "" "" "0000324640" "00323451" "1" "03853" "03853" "2010-12-23 17:27:51" "" "" "SEQ" "DNA" "" "" "0000324641" "00323452" "1" "00085" "00085" "2011-06-27 13:44:10" "" "" "PCR;SEQ" "DNA" "" "" "0000324642" "00323453" "1" "00085" "00085" "2008-03-14 15:45:12" "00085" "2013-04-24 09:31:52" "?" "?" "" "" "0000324643" "00323454" "1" "00085" "00085" "2008-04-18 10:17:38" "00085" "2014-04-29 13:57:37" "RT-PCR;SEQ;NUC" "RNA" "" "" "0000324644" "00323455" "1" "03704" "00085" "2008-03-14 15:46:15" "00085" "2009-12-01 13:07:07" "?" "?" "" "" "0000324645" "00323456" "1" "00085" "00085" "2008-04-18 10:24:31" "00085" "2013-04-24 10:51:22" "CSGE;RT-PCR;SEQ" "RNA" "" "" "0000324646" "00323457" "1" "03704" "00085" "2009-02-24 15:35:01" "00085" "2012-08-03 08:58:40" "PCR;SEQ" "DNA" "" "" "0000324647" "00323458" "1" "00085" "00085" "2009-03-03 13:58:59" "00085" "2014-04-29 15:48:39" "PCR;SEQ" "DNA" "" "" "0000324648" "00323459" "1" "00085" "00085" "2008-04-18 10:44:03" "00085" "2009-12-01 13:07:45" "HD;RT-PCR;SEQ" "RNA" "" "" "0000324649" "00323460" "1" "03885" "03885" "2016-10-06 15:58:19" "00085" "2017-03-13 14:33:44" "SEQ-NG" "DNA" "" "" "0000324650" "00323461" "1" "00085" "00085" "2008-04-18 10:46:21" "00085" "2013-04-24 10:51:22" "CSGE;RT-PCR;SEQ" "RNA" "" "" "0000324651" "00323462" "1" "00085" "00085" "2008-08-05 15:25:38" "00085" "2014-04-29 16:31:06" "PCR;RT-PCR;SEQ;NUC" "DNA;RNA" "" "" "0000324652" "00323463" "1" "03894" "03894" "2019-10-14 03:32:39" "00006" "2021-10-30 10:44:54" "SEQ;SEQ-NG" "DNA" "" "WES" "0000324653" "00323464" "1" "03704" "00085" "2008-03-14 15:47:22" "00085" "2009-12-01 13:08:55" "?" "?" "" "" "0000324654" "00323465" "1" "00085" "00085" "2008-03-14 15:48:33" "00085" "2014-04-30 13:10:27" "?" "?" "" "" "0000324655" "00323466" "1" "00085" "00085" "2018-01-19 09:33:57" "" "" "PCR;SEQ" "DNA" "" "" "0000324656" "00323467" "1" "03897" "00085" "2019-08-28 13:34:57" "" "" "SEQ" "DNA" "" "" "0000324657" "00323468" "1" "03704" "00085" "2008-03-14 15:49:33" "00085" "2011-02-18 09:32:54" "?" "?" "" "" "0000324658" "00323469" "1" "00085" "00085" "2008-04-18 10:53:30" "00085" "2012-12-12 15:30:16" "RT-PCR;SEQ;CMC" "RNA" "" "" "0000324659" "00323470" "1" "00085" "00085" "2009-02-26 13:38:23" "00085" "2012-12-12 15:36:08" "PCR;SEQ" "DNA" "" "" "0000324660" "00323471" "1" "00085" "00085" "2011-04-14 14:13:23" "00085" "2011-04-18 09:29:11" "?" "?" "" "" "0000324661" "00323472" "1" "00085" "00085" "2019-09-02 12:40:40" "" "" "SEQ" "DNA" "" "" "0000324662" "00323473" "1" "00085" "00085" "2008-03-14 15:51:14" "00085" "2014-04-29 16:33:00" "?" "?" "" "" "0000324663" "00323474" "1" "00085" "00085" "2014-04-02 11:13:16" "" "" "PCR;SEQ" "DNA" "" "" "0000324664" "00323475" "1" "00085" "00085" "2015-12-10 09:09:33" "" "" "PCR;SEQ" "DNA" "" "" "0000324665" "00323476" "1" "00085" "00085" "2019-09-02 12:44:20" "" "" "SEQ" "DNA" "" "" "0000324666" "00323477" "1" "03704" "00085" "2008-04-18 11:20:15" "00085" "2011-03-30 16:02:05" "RT-PCR;SEQ" "RNA" "" "" "0000324667" "00323478" "1" "03870" "03870" "2017-05-26 13:14:39" "" "" "MCA;SEQ" "DNA" "" "" "0000324668" "00323479" "1" "03704" "00085" "2009-02-24 15:38:41" "00085" "2011-08-25 14:44:23" "PCR;SEQ" "DNA" "" "" "0000324669" "00323480" "1" "03855" "03855" "2010-01-05 16:16:59" "" "" "SEQ" "DNA" "" "" "0000324670" "00323481" "1" "00085" "00085" "2009-03-03 14:06:00" "00085" "2014-04-29 16:33:59" "PCR;SEQ" "DNA" "" "" "0000324671" "00323482" "1" "03853" "03853" "2009-10-06 13:21:36" "00085" "2014-05-01 08:15:27" "SEQ" "DNA" "" "" "0000324672" "00323483" "1" "03704" "00085" "2009-02-25 13:54:10" "00085" "2011-08-25 14:44:23" "PCR;SEQ" "DNA" "" "" "0000324673" "00323484" "1" "03856" "03856" "2009-09-22 09:58:35" "" "" "PCR;SEQ" "DNA" "" "" "0000324674" "00323485" "1" "03853" "03853" "2009-10-06 13:29:02" "00085" "2009-10-20 14:09:04" "SEQ" "DNA" "" "" "0000324675" "00323486" "1" "03704" "00085" "2009-02-26 10:24:05" "00085" "2011-08-25 14:44:23" "PCR;SEQ" "DNA" "" "" "0000324676" "00323487" "1" "00085" "00085" "2017-04-24 14:46:07" "" "" "SEQ" "DNA" "" "" "0000324677" "00323488" "1" "03879" "03879" "2014-12-04 10:22:18" "00085" "2015-08-07 15:45:59" "PCR;SEQ" "DNA" "" "" "0000324678" "00323489" "1" "00085" "00085" "2018-01-19 09:52:20" "03701" "2020-11-18 12:28:45" "BESS;CMC;SEQ-NG;SEQ-NG;DGGE;PCR;SEQ" "DNA" "" "" "0000324679" "00323490" "1" "03870" "03870" "2017-05-26 13:18:09" "" "" "MCA;SEQ" "DNA" "" "" "0000324680" "00323491" "1" "00085" "00085" "2014-08-05 15:15:33" "" "" "PCRm;SEQ" "DNA" "" "" "0000324681" "00323492" "1" "00085" "00085" "2008-04-18 12:23:57" "00085" "2009-12-01 13:10:36" "CMC;RT-PCR;SEQ" "RNA" "" "" "0000324682" "00323493" "1" "03704" "00085" "2008-08-05 15:31:24" "00085" "2009-12-01 13:10:52" "?" "?" "" "" "0000324683" "00323494" "1" "00085" "00085" "2008-03-14 15:52:24" "00085" "2009-12-01 13:11:09" "?" "?" "" "" "0000324684" "00323495" "1" "00085" "00085" "2008-04-18 13:12:06" "00085" "2009-12-01 13:11:17" "RT-PCR;SEQ;SSCA" "RNA" "" "" "0000324685" "00323496" "1" "00085" "00085" "2008-04-18 13:13:12" "00085" "2009-12-01 13:11:26" "RT-PCR;SEQ;SSCA" "RNA" "" "" "0000324686" "00323497" "1" "00085" "00085" "2008-04-18 13:14:15" "00085" "2009-12-01 13:11:34" "RT-PCR;SEQ;SSCA" "RNA" "" "" "0000324687" "00323498" "1" "03888" "00085" "2017-02-20 14:55:56" "00085" "2017-03-02 14:38:18" "PCR;SEQ" "DNA" "" "" "0000324688" "00323499" "1" "03870" "03870" "2017-05-26 13:19:56" "" "" "MCA;SEQ" "DNA" "" "" "0000324689" "00323500" "1" "00085" "00085" "2008-04-18 13:25:22" "00085" "2013-04-24 16:57:06" "CSGE;PCR;SEQ" "DNA" "" "" "0000324690" "00323501" "1" "00085" "00085" "2008-03-14 15:53:25" "00085" "2009-12-01 13:12:06" "?" "?" "" "" "0000324691" "00323502" "1" "00085" "00085" "2008-03-14 15:54:24" "00085" "2009-12-01 13:12:22" "?" "?" "" "" "0000324692" "00323503" "1" "00085" "00085" "2008-03-14 15:55:30" "00085" "2014-04-29 16:35:21" "?" "?" "" "" "0000324693" "00323504" "1" "00085" "00085" "2008-03-14 15:56:13" "00085" "2014-04-29 16:36:00" "?" "?" "" "" "0000324694" "00323505" "1" "00085" "00085" "2008-04-18 13:28:22" "00085" "2013-04-24 10:51:22" "CSGE;RT-PCR;SEQ" "RNA" "" "" "0000324695" "00323506" "1" "00085" "00085" "2008-04-18 14:53:24" "00085" "2013-04-24 16:49:07" "PCR;SEQ" "DNA" "" "" "0000324696" "00323507" "1" "03855" "03855" "2009-12-30 12:12:00" "" "" "SEQ" "DNA" "" "" "0000324697" "00323508" "1" "00085" "00085" "2011-06-27 13:46:02" "" "" "PCR;SEQ" "DNA" "" "" "0000324698" "00323509" "1" "00085" "00085" "2014-08-05 15:58:32" "" "" "PCRm;SEQ" "DNA" "" "" "0000324699" "00323510" "1" "03879" "03879" "2014-12-05 14:58:37" "00085" "2015-08-07 15:14:03" "PCR;SEQ" "DNA" "" "" "0000324700" "00323511" "1" "03704" "00085" "2008-03-14 15:57:16" "00085" "2009-12-01 13:13:25" "?" "?" "" "" "0000324701" "00323512" "1" "01819" "01819" "2011-09-27 12:37:56" "" "" "PCR;SEQ" "DNA" "" "" "0000324702" "00323513" "1" "03885" "03885" "2016-10-06 16:03:34" "" "" "SEQ" "DNA" "" "" "0000324703" "00323514" "1" "00085" "00085" "2017-02-08 13:20:05" "00085" "2017-02-08 13:21:22" "SEQ-NG;PCR;SEQ" "DNA" "" "" "0000324704" "00323515" "1" "00085" "00085" "2008-04-18 14:59:45" "00085" "2012-08-03 09:05:33" "PCR;SEQ" "DNA" "" "" "0000324705" "00323516" "1" "00085" "00085" "2014-11-05 09:09:49" "" "" "SEQ" "DNA" "" "" "0000324706" "00323517" "1" "00085" "00085" "2009-02-26 15:33:29" "00085" "2014-04-30 12:01:16" "PCR;SEQ" "DNA" "" "" "0000324707" "00323518" "1" "00085" "00085" "2008-04-18 14:40:06" "00085" "2013-04-24 10:51:22" "CSGE;RT-PCR;SEQ" "RNA" "" "" "0000324708" "00323519" "1" "03885" "03885" "2016-10-06 16:06:38" "00085" "2017-03-13 14:30:51" "SEQ-NG" "DNA" "" "" "0000324709" "00323520" "1" "03894" "03894" "2018-09-27 09:08:57" "" "" "PCR;SEQ" "DNA" "" "" "0000324710" "00323521" "1" "03855" "03855" "2010-01-05 16:18:50" "" "" "SEQ" "DNA" "" "" "0000324711" "00323522" "1" "00085" "00085" "2008-04-18 14:50:41" "00085" "2009-12-01 13:14:11" "CMC;RT-PCR;SEQ" "RNA" "" "" "0000324712" "00323523" "1" "03704" "00085" "2008-03-14 16:01:18" "00085" "2009-12-01 13:14:26" "?" "?" "" "" "0000324713" "00323524" "1" "00085" "00085" "2008-04-18 15:19:04" "00085" "2009-12-01 13:14:35" "RT-PCR;SEQ" "RNA" "" "" "0000324714" "00323525" "1" "03894" "03894" "2018-09-26 12:25:23" "" "" "PCR;SEQ" "DNA" "" "" "0000324715" "00323526" "1" "00085" "00085" "2008-03-17 11:09:51" "00085" "2009-12-01 13:14:53" "?" "?" "" "" "0000324716" "00323527" "1" "00085" "00085" "2011-04-14 14:23:41" "00085" "2011-04-18 09:27:36" "?" "?" "" "" "0000324717" "00323528" "1" "00085" "00085" "2008-03-17 11:11:08" "00085" "2009-12-01 13:15:10" "?" "?" "" "" "0000324718" "00323529" "1" "03702" "00085" "2008-04-30 08:52:43" "00085" "2010-08-13 13:32:44" "PAGE;PCR;RT-PCR;SEQ;?" "?" "" "" "0000324719" "00323530" "1" "03879" "03879" "2014-12-08 08:36:59" "00085" "2015-08-07 15:11:10" "PCR;SEQ" "DNA" "" "" "0000324720" "00323531" "1" "03870" "03870" "2017-05-26 13:22:41" "" "" "MCA;SEQ" "DNA" "" "" "0000324721" "00323532" "1" "03870" "03870" "2017-05-26 13:26:43" "" "" "SEQ" "DNA" "" "" "0000324722" "00323533" "1" "03895" "00085" "2018-11-28 10:39:18" "" "" "?" "?" "" "" "0000324723" "00323534" "1" "03894" "03894" "2018-09-26 14:02:01" "" "" "PCR;SEQ" "DNA" "" "" "0000324724" "00323535" "1" "00085" "00085" "2018-01-19 10:30:38" "" "" "PCR;SEQ" "DNA" "" "" "0000324725" "00323536" "1" "03704" "00085" "2008-08-05 15:02:56" "00085" "2013-04-26 09:34:44" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000324726" "00323537" "1" "03704" "00085" "2008-08-05 15:35:22" "00085" "2009-12-01 13:15:45" "?" "?" "" "" "0000324727" "00323538" "1" "03704" "00085" "2011-02-18 09:06:31" "00085" "2011-02-18 09:14:38" "PCR;SEQ" "DNA" "" "" "0000324728" "00323539" "1" "03704" "00085" "2008-06-17 15:30:07" "00085" "2013-04-26 09:59:18" "RT-PCR;SEQ" "RNA" "" "" "0000324729" "00323540" "1" "00085" "00085" "2019-08-15 16:38:38" "00085" "2019-08-28 16:17:49" "SEQ-NG" "DNA" "" "" "0000324730" "00323541" "1" "00085" "00085" "2008-03-17 11:12:16" "00085" "2009-12-01 13:16:04" "?" "?" "" "" "0000324731" "00323542" "1" "00085" "00085" "2018-01-19 10:36:11" "00085" "2018-01-19 10:37:01" "PCR;SEQ" "DNA" "" "" "0000324732" "00323543" "1" "03853" "03853" "2010-12-23 17:15:20" "" "" "SEQ" "DNA" "" "" "0000324733" "00323544" "1" "00085" "00085" "2011-06-27 13:48:53" "" "" "PCR;SEQ" "DNA" "" "" "0000324734" "00323545" "1" "03870" "03870" "2017-05-26 13:28:31" "" "" "MCA;SEQ" "DNA" "" "" "0000324735" "00323546" "1" "03894" "03894" "2018-09-26 14:12:19" "" "" "PCR;SEQ" "DNA" "" "" "0000324736" "00323547" "1" "03853" "03853" "2010-05-03 14:29:52" "" "" "SEQ" "DNA" "" "" "0000324738" "00323549" "1" "00085" "00085" "2008-03-17 11:13:27" "00085" "2009-12-01 13:16:23" "?" "?" "" "" "0000324739" "00323550" "1" "00085" "00085" "2008-04-30 08:56:57" "00085" "2013-04-24 10:51:22" "CSGE;RT-PCR;SEQ" "RNA" "" "" "0000324740" "00323551" "1" "00085" "00085" "2019-08-15 16:50:58" "00085" "2019-08-28 16:21:21" "SEQ-NG" "DNA" "" "" "0000324741" "00323552" "1" "01819" "01819" "2016-11-28 13:51:11" "01819" "2016-11-28 13:53:30" "PCR;SEQ" "DNA" "" "" "0000324742" "00323553" "1" "03865" "03865" "2012-06-25 07:39:35" "00085" "2013-08-23 14:35:47" "MS;PCR;SEQ" "DNA" "" "" "0000324743" "00323554" "1" "03704" "00085" "2008-03-17 11:14:25" "00085" "2009-12-01 13:16:57" "?" "?" "" "" "0000324744" "00323555" "1" "00085" "00085" "2008-04-30 09:18:53" "00085" "2014-04-29 16:42:07" "RT-PCR;SEQ" "RNA" "" "" "0000324745" "00323556" "1" "03853" "03853" "2008-11-05 17:15:01" "00085" "2008-11-19 09:43:40" "SEQ" "DNA" "" "" "0000324746" "00323557" "1" "00085" "00085" "2015-12-10 09:12:58" "" "" "PCR;SEQ" "DNA" "" "" "0000324747" "00323558" "1" "00085" "00085" "2008-08-06 09:28:43" "00085" "2012-07-10 13:40:29" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000324748" "00323559" "1" "03894" "03894" "2018-09-26 13:20:32" "00006" "2021-10-30 10:44:54" "PCR;SEQ;SEQ-NG" "DNA" "" "WES" "0000324749" "00323560" "1" "00085" "00085" "2008-08-06 09:35:05" "03701" "2020-11-18 12:18:02" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000324750" "00323561" "1" "03704" "00085" "2008-06-17 16:42:25" "00085" "2012-07-31 15:39:16" "SEQ" "DNA" "" "" "0000324751" "00323562" "1" "03897" "00085" "2019-08-29 14:27:14" "00085" "2020-03-29 12:31:11" "SEQ" "DNA" "" "" "0000324752" "00323563" "1" "03894" "03894" "2018-09-26 14:17:00" "" "" "PCR;SEQ" "DNA" "" "" "0000324753" "00323564" "1" "03897" "03897" "2020-04-11 17:07:53" "" "" "PCR;SEQ" "DNA" "" "" "0000324754" "00323565" "1" "00085" "00085" "2008-04-30 09:25:17" "00085" "2013-04-24 10:51:22" "CSGE;RT-PCR;SEQ" "RNA" "" "" "0000324755" "00323566" "1" "03704" "00085" "2008-03-17 11:17:10" "00085" "2009-12-01 13:18:49" "?" "?" "" "" "0000324756" "00323567" "1" "00085" "00085" "2008-04-30 09:31:46" "00085" "2013-04-24 16:49:07" "PCR;SEQ" "DNA" "" "" "0000324757" "00323568" "1" "03879" "03879" "2014-12-02 10:17:52" "00085" "2015-08-07 15:04:47" "PCR" "DNA" "" "" "0000324758" "00323569" "1" "03894" "03894" "2018-09-26 13:11:08" "" "" "PCR;SEQ" "DNA" "" "" "0000324759" "00323570" "1" "00085" "00085" "2019-09-04 13:15:14" "" "" "SEQ" "DNA" "" "" "0000324760" "00323571" "1" "03897" "03897" "2020-04-11 17:22:57" "" "" "PCR;SEQ" "DNA" "" "" "0000324761" "00323572" "1" "00085" "00085" "2008-04-30 12:03:31" "00085" "2009-12-01 13:19:17" "CMC;RT-PCR;SEQ" "RNA" "" "" "0000324762" "00323573" "1" "00085" "00085" "2008-04-30 12:50:46" "00085" "2014-04-29 16:42:53" "RT-PCR;SEQ;CMC" "RNA" "" "" "0000324763" "00323574" "1" "03704" "00085" "2008-06-18 09:22:54" "00085" "2013-04-24 10:41:34" "RT-PCR;SEQ" "RNA" "" "" "0000324764" "00323575" "1" "00085" "00085" "2009-11-30 13:35:23" "" "" "?" "?" "" "" "0000324765" "00323576" "1" "03704" "00085" "2008-03-17 11:18:17" "00085" "2009-12-01 13:19:53" "?" "?" "" "" "0000324766" "00323577" "1" "03897" "03897" "2020-04-11 17:19:52" "" "" "PCR;SEQ" "DNA" "" "" "0000324767" "00323578" "1" "00085" "00085" "2016-08-01 09:32:04" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" "" "0000324768" "00323579" "1" "00085" "00085" "2009-11-30 13:36:41" "" "" "?" "?" "" "" "0000324769" "00323580" "1" "03894" "03894" "2018-09-26 12:45:11" "" "" "PCR;SEQ" "DNA" "" "" "0000324770" "00323581" "1" "00085" "00085" "2019-09-02 12:46:55" "" "" "SEQ" "DNA" "" "" "0000324771" "00323582" "1" "00085" "00085" "2019-09-02 12:48:51" "" "" "SEQ" "DNA" "" "" "0000324772" "00323583" "1" "03894" "03894" "2018-09-26 11:13:57" "" "" "PCR;SEQ" "DNA" "" "" "0000324773" "00323584" "1" "03853" "03853" "2009-10-06 13:31:06" "00085" "2009-10-20 14:26:07" "SEQ" "DNA" "" "" "0000324774" "00323585" "1" "00085" "00085" "2008-04-30 13:15:13" "00085" "2014-04-30 12:46:05" "PCR;SEQ;HD" "DNA" "" "" "0000324775" "00323586" "1" "00085" "00085" "2008-03-17 11:19:27" "00085" "2013-04-24 09:31:52" "?" "?" "" "" "0000324776" "00323587" "1" "01819" "01819" "2011-09-27 12:39:23" "" "" "PCR;SEQ" "DNA" "" "" "0000324777" "00323588" "1" "00085" "00085" "2015-08-04 14:50:40" "00085" "2017-02-07 11:33:21" "SEQ-NG" "DNA" "" "" "0000324778" "00323589" "1" "03865" "03865" "2012-06-25 07:41:09" "00085" "2013-08-23 14:01:11" "MS;PCR;SEQ" "DNA" "" "" "0000324779" "00323590" "1" "03889" "03889" "2018-04-11 16:53:09" "00085" "2018-04-11 16:56:09" "?" "DNA" "" "" "0000324780" "00323591" "1" "03894" "03894" "2018-09-26 13:41:02" "" "" "PCR;SEQ" "DNA" "" "" "0000324781" "00323592" "1" "03704" "00085" "2008-06-18 11:40:46" "00085" "2013-04-24 10:41:34" "RT-PCR;SEQ" "RNA" "" "" "0000324782" "00323593" "1" "03704" "00085" "2009-02-25 11:03:23" "00085" "2011-08-25 14:44:23" "PCR;SEQ" "DNA" "" "" "0000324783" "00323594" "1" "03855" "03855" "2010-01-14 11:45:51" "" "" "SEQ" "DNA" "" "" "0000324784" "00323595" "1" "00085" "00085" "2008-04-30 13:37:32" "00085" "2011-09-01 14:06:44" "RT-PCR;SEQ" "RNA" "" "" "0000324785" "00323596" "1" "00085" "00085" "2015-10-07 15:29:15" "00085" "2017-03-14 08:14:46" "SEQ-NG" "DNA" "" "" "0000324786" "00323597" "1" "03855" "03855" "2009-12-30 12:13:59" "" "" "SEQ" "DNA" "" "" "0000324787" "00323598" "1" "03704" "00085" "2011-04-08 08:31:15" "" "" "PCR;SEQ" "DNA" "" "" "0000324788" "00323599" "1" "00085" "00085" "2008-08-06 09:55:42" "00085" "2013-04-24 16:49:07" "PCR;SEQ" "DNA" "" "" "0000324789" "00323600" "1" "03855" "03855" "2010-01-14 11:44:03" "" "" "SEQ" "DNA" "" "" "0000324790" "00323601" "1" "01819" "01819" "2011-09-27 13:21:17" "00085" "2012-02-07 09:36:43" "PCR;SEQ" "DNA" "" "" "0000324791" "00323602" "1" "03894" "03894" "2018-09-27 08:49:39" "" "" "PCR;SEQ" "DNA" "" "" "0000324792" "00323603" "1" "03704" "00085" "2008-03-17 11:20:27" "00085" "2009-12-01 13:21:42" "?" "?" "" "" "0000324793" "00323604" "1" "00085" "00085" "2008-04-30 13:25:45" "00085" "2013-04-26 09:45:24" "RT-PCR;SEQ" "RNA" "" "" "0000324794" "00323605" "1" "00085" "00085" "2008-03-17 11:21:29" "00085" "2012-03-07 16:44:32" "?" "?" "" "" "0000324795" "00323606" "1" "03855" "03855" "2009-12-29 14:51:04" "00085" "2010-04-07 10:56:46" "SEQ" "DNA" "" "" "0000324796" "00323607" "1" "03894" "03894" "2018-09-26 14:26:20" "" "" "PCR;SEQ" "DNA" "" "" "0000324797" "00323608" "1" "03853" "03853" "2008-11-05 17:17:35" "00085" "2008-11-19 09:49:38" "SEQ" "DNA" "" "" "0000324798" "00323609" "1" "00085" "00085" "2008-03-17 11:22:34" "00085" "2009-12-01 13:22:21" "?" "?" "" "" "0000324799" "00323610" "1" "03704" "00085" "2008-04-30 16:30:47" "00085" "2011-03-30 16:03:57" "?" "?" "" "" "0000324800" "00323611" "1" "00085" "00085" "2009-11-30 13:38:14" "" "" "?" "?" "" "" "0000324801" "00323612" "1" "00085" "00085" "2008-03-17 11:24:13" "00085" "2012-03-07 16:47:53" "?" "?" "" "" "0000324802" "00323613" "1" "00085" "00085" "2008-03-17 11:24:53" "00085" "2014-01-21 14:59:27" "?" "?" "" "" "0000324803" "00323614" "1" "03702" "03702" "2008-09-03 21:22:18" "00085" "2012-03-07 16:49:19" "PAGE;PCR;RT-PCR;SEQ" "RNA" "" "" "0000324804" "00323615" "1" "03704" "00085" "2008-03-17 11:25:51" "00085" "2009-12-01 13:23:29" "?" "?" "" "" "0000324805" "00323616" "1" "00085" "00085" "2009-11-30 13:39:27" "" "" "?" "?" "" "" "0000324806" "00323617" "1" "00085" "00085" "2018-08-03 10:40:38" "" "" "PCR;SEQ" "DNA" "" "" "0000324807" "00323618" "1" "03855" "03855" "2010-01-05 16:35:01" "00085" "2010-04-08 10:55:59" "SEQ" "DNA" "" "" "0000324808" "00323619" "1" "00085" "00085" "2009-11-30 13:40:36" "" "" "?" "?" "" "" "0000324809" "00323620" "1" "00085" "00085" "2008-08-06 10:05:12" "00085" "2014-01-21 15:34:52" "?" "?" "" "" "0000324810" "00323621" "1" "00085" "00085" "2008-08-06 10:06:53" "00085" "2013-04-24 16:49:07" "PCR;SEQ" "DNA" "" "" "0000324811" "00323622" "1" "03879" "03879" "2014-12-08 12:25:38" "00085" "2015-08-07 15:12:57" "PCR;SEQ" "DNA" "" "" "0000324812" "00323623" "1" "00085" "00085" "2012-09-05 13:40:30" "" "" "?" "?" "" "" "0000324813" "00323624" "1" "03879" "03879" "2014-12-08 13:21:37" "00085" "2015-08-07 15:04:02" "PCR;SEQ" "DNA" "" "" "0000324814" "00323625" "1" "00085" "00085" "2008-04-30 16:37:16" "00085" "2014-04-29 16:43:37" "RT-PCR;SEQ;CMC" "RNA" "" "" "0000324815" "00323626" "1" "00085" "00085" "2008-04-30 16:47:00" "00085" "2013-04-24 10:35:25" "PCR;SEQ" "DNA" "" "" "0000324816" "00323627" "1" "01819" "01819" "2011-09-27 12:40:51" "" "" "PCR;SEQ" "DNA" "" "" "0000324817" "00323628" "1" "00085" "00085" "2012-08-08 10:51:42" "" "" "PCR;SEQ" "DNA" "" "" "0000324818" "00323629" "1" "00085" "00085" "2015-12-10 09:19:47" "" "" "PCR;SEQ" "DNA" "" "" "0000324819" "00323630" "1" "03894" "03894" "2018-09-26 11:26:36" "" "" "PCR;SEQ" "DNA" "" "" "0000324820" "00323631" "1" "00085" "00085" "2014-08-05 15:52:58" "" "" "PCRm;SEQ" "DNA" "" "" "0000324821" "00323632" "1" "00085" "00085" "2009-11-30 13:42:02" "" "" "?" "?" "" "" "0000324822" "00323633" "1" "03704" "00085" "2008-03-17 11:26:59" "00085" "2009-12-01 13:25:14" "?" "?" "" "" "0000324823" "00323634" "1" "03704" "00085" "2008-03-17 11:27:41" "00085" "2009-12-01 13:25:23" "?" "?" "" "" "0000324824" "00323635" "1" "03704" "00085" "2008-05-01 09:18:41" "00085" "2014-04-29 16:44:25" "RT-PCR;SEQ" "RNA" "" "" "0000324825" "00323636" "1" "00085" "00085" "2008-05-01 09:25:46" "00085" "2013-04-24 17:05:20" "RT-PCR;SEQ" "RNA" "" "" "0000324826" "00323637" "1" "00085" "00085" "2008-05-01 09:26:41" "00085" "2013-04-24 17:05:20" "RT-PCR;SEQ" "RNA" "" "" "0000324827" "00323638" "1" "00085" "00085" "2008-03-17 11:28:43" "00085" "2009-12-01 13:26:25" "?" "?" "" "" "0000324828" "00323639" "1" "03704" "00085" "2009-02-24 15:41:37" "00085" "2013-04-24 09:45:15" "PCR;SEQ" "DNA" "" "" "0000324829" "00323640" "1" "01819" "01819" "2011-09-27 12:43:45" "" "" "PCR;SEQ" "DNA" "" "" "0000324830" "00323641" "1" "03897" "03897" "2020-04-11 18:14:03" "" "" "PCR;SEQ" "DNA" "" "" "0000324831" "00323642" "1" "00085" "00085" "2009-11-30 13:43:29" "" "" "?" "?" "" "" "0000324832" "00323643" "1" "03894" "03894" "2018-09-27 05:49:48" "" "" "PCR;SEQ" "DNA" "" "" "0000324833" "00323644" "1" "03853" "03853" "2009-10-06 13:33:48" "00085" "2009-10-20 14:29:34" "SEQ" "DNA" "" "" "0000324834" "00323645" "1" "03897" "03897" "2020-04-11 17:21:38" "" "" "PCR;SEQ" "DNA" "" "" "0000324835" "00323646" "1" "00085" "00085" "2008-03-17 11:29:42" "00085" "2014-01-21 15:35:35" "?" "?" "" "" "0000324836" "00323647" "1" "03704" "00085" "2011-03-30 16:06:28" "" "" "PCR;SEQ" "DNA" "" "" "0000324837" "00323648" "1" "00085" "00085" "2014-04-02 11:23:11" "" "" "PCR;SEQ" "DNA" "" "" "0000324838" "00323649" "1" "03894" "03894" "2018-09-26 13:37:12" "" "" "PCR;SEQ" "DNA" "" "" "0000324839" "00323650" "1" "03894" "03894" "2018-09-26 14:22:24" "" "" "PCR;SEQ" "DNA" "" "" "0000324840" "00323651" "1" "03704" "00085" "2009-02-24 15:44:38" "00085" "2011-08-25 14:44:23" "PCR;SEQ" "DNA" "" "" "0000324841" "00323652" "1" "00085" "00085" "2008-05-01 10:01:51" "03701" "2020-11-18 12:18:28" "RT-PCR;SEQ" "RNA" "" "" "0000324842" "00323653" "1" "00085" "00085" "2014-04-02 11:20:52" "" "" "PCR;SEQ" "DNA" "" "" "0000324843" "00323654" "1" "03885" "03885" "2016-10-06 16:14:28" "" "" "SEQ" "DNA" "" "" "0000324844" "00323655" "1" "00085" "00085" "2008-05-01 10:10:23" "00085" "2013-04-24 16:51:06" "PCR;SEQ" "DNA" "" "" "0000324845" "00323656" "1" "00085" "00085" "2018-01-19 09:26:02" "" "" "PCR;SEQ" "DNA" "" "" "0000324846" "00323657" "1" "03879" "03879" "2014-12-02 10:31:43" "00085" "2015-08-07 14:57:10" "PCR" "DNA" "" "" "0000324847" "00323658" "1" "03879" "03879" "2014-12-02 10:33:45" "00085" "2015-08-07 15:11:42" "PCR" "DNA" "" "" "0000324848" "00323659" "1" "03885" "03885" "2016-10-06 18:15:58" "" "" "SEQ" "DNA" "" "" "0000324849" "00323660" "1" "00085" "00085" "2008-03-17 11:30:49" "00085" "2009-12-01 13:27:55" "?" "?" "" "" "0000324850" "00323661" "1" "00475" "00475" "2010-01-15 13:19:35" "00085" "2010-07-14 11:06:30" "SEQ" "DNA" "" "" "0000324851" "00323662" "1" "00085" "00085" "2013-04-11 12:00:35" "" "" "SEQ" "DNA" "" "" "0000324852" "00323663" "1" "00085" "00085" "2015-12-10 09:22:36" "" "" "PCR;SEQ" "DNA" "" "" "0000324853" "00323664" "1" "00085" "00085" "2011-04-18 09:46:56" "" "" "?" "?" "" "" "0000324854" "00323665" "1" "00085" "00085" "2015-12-10 09:25:55" "" "" "PCR;SEQ" "DNA" "" "" "0000324855" "00323666" "1" "03704" "00085" "2008-03-17 11:31:55" "00085" "2009-12-01 13:28:10" "?" "?" "" "" "0000324856" "00323667" "1" "00085" "00085" "2008-05-01 10:05:25" "00085" "2013-04-26 09:45:24" "RT-PCR;SEQ" "RNA" "" "" "0000324857" "00323668" "1" "03897" "03897" "2020-04-11 18:15:47" "" "" "PCR;SEQ" "DNA" "" "" "0000324858" "00323669" "1" "03855" "03855" "2010-01-05 15:55:43" "00085" "2010-04-08 11:06:36" "SEQ" "DNA" "" "" "0000324859" "00323670" "1" "03704" "00085" "2008-08-06 10:16:33" "00085" "2009-12-01 13:28:39" "?" "?" "" "" "0000324860" "00323671" "1" "03704" "00085" "2008-08-06 10:21:19" "00085" "2009-12-01 13:28:58" "?" "?" "" "" "0000324861" "00323672" "1" "00085" "00085" "2008-03-17 11:32:58" "00085" "2014-01-21 15:36:14" "?" "?" "" "" "0000324862" "00323673" "1" "03894" "03894" "2019-10-14 03:36:06" "00006" "2021-10-30 10:44:54" "SEQ;SEQ-NG" "DNA" "" "WES" "0000324863" "00323674" "1" "03885" "03885" "2016-10-06 18:18:21" "00085" "2017-03-13 14:24:59" "SEQ" "DNA" "" "" "0000324864" "00323675" "1" "00085" "00085" "2008-03-17 11:35:02" "00085" "2009-12-01 13:29:29" "?" "?" "" "" "0000324865" "00323676" "1" "00085" "00085" "2008-05-01 10:17:29" "00085" "2014-04-29 16:45:04" "RT-PCR;SEQ;NUC" "RNA" "" "" "0000324866" "00323677" "1" "03865" "03865" "2012-06-25 07:47:11" "00085" "2013-08-23 14:02:10" "MS;PCR;SEQ" "DNA" "" "" "0000324867" "00323678" "1" "03894" "03894" "2018-09-26 12:00:07" "03894" "2018-09-28 07:02:02" "PCR;SEQ" "DNA" "" "" "0000324868" "00323679" "1" "03894" "03894" "2018-09-26 14:40:34" "03894" "2018-09-28 06:57:22" "PCR;SEQ" "DNA" "" "" "0000324869" "00323680" "1" "03853" "03853" "2009-10-06 13:36:28" "00085" "2009-10-20 14:33:24" "SEQ" "DNA" "" "" "0000324870" "00323681" "1" "03872" "03872" "2014-11-02 12:41:42" "" "" "MCA;PCR;SEQ" "DNA" "" "" "0000324871" "00323682" "1" "03704" "00085" "2008-03-17 11:36:16" "00085" "2009-12-01 13:30:07" "?" "?" "" "" "0000324872" "00323683" "1" "01819" "01819" "2011-09-27 12:44:53" "" "" "PCR;SEQ" "DNA" "" "" "0000324873" "00323684" "1" "03865" "03865" "2012-06-25 07:49:59" "" "" "PCR;SEQ" "DNA" "" "" "0000324874" "00323685" "1" "00085" "00085" "2008-03-17 11:37:18" "00085" "2012-03-12 13:16:25" "?" "?" "" "" "0000324875" "00323686" "1" "03704" "00085" "2008-03-17 11:37:55" "00085" "2012-03-12 13:18:13" "?" "?" "" "" "0000324876" "00323687" "1" "03704" "00085" "2008-03-17 11:38:31" "00085" "2012-03-12 13:18:45" "?" "?" "" "" "0000324877" "00323688" "1" "03704" "00085" "2008-03-17 11:39:10" "00085" "2012-03-12 13:19:20" "?" "?" "" "" "0000324878" "00323689" "1" "00085" "00085" "2008-05-01 10:29:07" "00085" "2012-03-08 10:05:06" "RT-PCR;SEQ;SSCA" "RNA" "" "" "0000324879" "00323690" "1" "03702" "03702" "2008-09-03 21:25:10" "00085" "2012-03-08 10:05:33" "PAGE;PCR;RT-PCR;SEQ" "RNA" "" "" "0000324880" "00323691" "1" "03855" "03855" "2009-12-29 15:04:21" "00085" "2015-12-14 09:47:44" "SEQ" "DNA" "" "" "0000324881" "00323692" "1" "03870" "03870" "2010-03-05 16:24:57" "00085" "2013-04-17 10:00:18" "DHPLC;SEQ" "DNA" "" "" "0000324882" "00323693" "1" "03870" "03870" "2011-03-01 13:32:18" "00085" "2013-04-17 10:00:18" "DHPLC;SEQ" "DNA" "" "" "0000324883" "00323694" "1" "03865" "03865" "2012-06-25 08:03:41" "" "" "PCR;SEQ" "DNA" "" "" "0000324884" "00323695" "1" "00085" "00085" "2013-08-13 12:58:22" "" "" "?" "?" "" "" "0000324885" "00323696" "1" "03865" "03865" "2013-08-22 10:01:13" "00085" "2013-08-23 15:55:39" "PCR;SEQ" "DNA" "" "" "0000324886" "00323697" "1" "03865" "03865" "2013-08-22 10:18:48" "" "" "PCR;SEQ" "DNA" "" "" "0000324887" "00323698" "1" "03865" "03865" "2013-08-22 10:20:17" "" "" "PCR;SEQ" "DNA" "" "" "0000324888" "00323699" "1" "03871" "03871" "2013-09-17 14:37:05" "" "" "DHPLC;SEQ" "DNA" "" "" "0000324889" "00323700" "1" "03870" "03870" "2017-05-26 13:32:09" "" "" "SEQ" "DNA" "" "" "0000324890" "00323701" "1" "03870" "03870" "2017-05-26 13:33:57" "" "" "MCA;SEQ" "DNA" "" "" "0000324891" "00323702" "1" "03870" "03870" "2017-05-26 13:35:44" "" "" "SEQ" "DNA" "" "" "0000324892" "00323703" "1" "03870" "03870" "2017-05-26 13:46:25" "" "" "MCA;SEQ" "DNA" "" "" "0000324893" "00323704" "1" "03870" "03870" "2017-05-26 13:48:20" "" "" "SEQ" "DNA" "" "" "0000324894" "00323705" "1" "00085" "00085" "2018-08-03 10:31:56" "" "" "PCR;SEQ" "DNA" "" "" "0000324895" "00323706" "1" "03894" "03894" "2018-09-26 14:11:34" "" "" "PCR;SEQ" "DNA" "" "" "0000324896" "00323707" "1" "00085" "00085" "2019-08-20 09:47:32" "00085" "2019-09-11 14:47:10" "SEQ" "DNA" "" "" "0000324897" "00323708" "1" "00085" "00085" "2019-09-04 13:19:31" "" "" "SEQ" "DNA" "" "" "0000324898" "00323709" "1" "00085" "00085" "2019-09-04 13:33:40" "" "" "SEQ" "DNA" "" "" "0000324899" "00323710" "1" "03897" "03897" "2020-04-11 18:17:56" "" "" "PCR;SEQ" "DNA" "" "" "0000324900" "00323711" "1" "03865" "03865" "2012-06-25 07:52:51" "" "" "PCR;SEQ" "DNA" "" "" "0000324901" "00323712" "1" "03702" "03702" "2010-08-11 12:10:50" "00085" "2010-08-13 13:33:41" "PAGE;PCR;RT-PCR;SEQ" "RNA" "" "" "0000324902" "00323713" "1" "03872" "03872" "2015-05-21 16:57:52" "" "" "MCA;PCR;SEQ" "DNA" "" "" "0000324903" "00323714" "1" "03894" "03894" "2018-09-26 13:31:56" "" "" "PCR;SEQ" "DNA" "" "" "0000324904" "00323715" "1" "03894" "03894" "2018-09-27 08:43:54" "" "" "PCR;SEQ" "DNA" "" "" "0000324905" "00323716" "1" "03872" "03872" "2015-05-21 17:05:47" "" "" "MCA;PCR;SEQ" "DNA" "" "" "0000324906" "00323717" "1" "03870" "03870" "2017-05-26 13:50:33" "" "" "MCA;SEQ" "DNA" "" "" "0000324907" "00323718" "1" "03897" "00085" "2019-08-28 16:19:42" "00085" "2020-03-29 12:14:29" "SEQ" "DNA" "" "" "0000324908" "00323719" "1" "03897" "03897" "2020-04-11 18:19:22" "" "" "PCR;SEQ" "DNA" "" "" "0000324909" "00323720" "1" "00085" "00085" "2008-05-01 10:34:58" "00085" "2014-04-29 16:45:54" "RT-PCR;SEQ;SSCA" "RNA" "" "" "0000324910" "00323721" "1" "00085" "00085" "2011-06-27 13:50:38" "" "" "PCR;SEQ" "DNA" "" "" "0000324911" "00323722" "1" "00085" "00085" "2015-03-10 13:00:16" "00085" "2016-02-16 13:41:12" "PCR;SEQ;arraySEQ" "DNA" "" "" "0000324912" "00323723" "1" "03894" "03894" "2018-09-26 11:31:47" "" "" "PCR;SEQ" "DNA" "" "" "0000324913" "00323724" "1" "03870" "03870" "2017-05-26 13:53:05" "" "" "MCA;SEQ" "DNA" "" "" "0000324914" "00323725" "1" "03894" "03894" "2018-09-26 13:15:11" "" "" "PCR;SEQ" "DNA" "" "" "0000324915" "00323726" "1" "03894" "03894" "2018-09-26 13:22:19" "" "" "PCR;SEQ" "DNA" "" "" "0000324916" "00323727" "1" "03704" "00085" "2008-03-17 11:40:15" "00085" "2009-12-01 13:31:52" "?" "?" "" "" "0000324917" "00323728" "1" "00085" "00085" "2008-05-01 10:42:09" "00085" "2014-04-29 16:46:43" "RT-PCR;SEQ" "RNA" "" "" "0000324918" "00323729" "1" "00085" "00085" "2008-05-01 11:13:46" "00085" "2014-04-29 16:47:34" "RT-PCR;SEQ;NUC" "RNA" "" "" "0000324919" "00323730" "1" "03704" "00085" "2011-03-30 16:10:04" "" "" "PCR;SEQ" "DNA" "" "" "0000324920" "00323731" "1" "00085" "00085" "2008-05-01 11:19:37" "00085" "2009-12-01 13:32:37" "CMC;RT-PCR;SEQ" "RNA" "" "" "0000324921" "00323732" "1" "03704" "00085" "2009-02-24 15:46:57" "00085" "2013-04-24 09:45:15" "PCR;SEQ" "DNA" "" "" "0000324922" "00323733" "1" "03853" "03853" "2009-10-06 13:38:41" "00085" "2009-10-20 14:36:33" "SEQ" "DNA" "" "" "0000324923" "00323734" "1" "00085" "00085" "2008-03-17 11:41:18" "00085" "2014-04-30 13:09:09" "?" "?" "" "" "0000324924" "00323735" "1" "00085" "00085" "2008-05-01 11:26:01" "00085" "2012-08-03 08:03:50" "CSGE;PCR;SEQ" "DNA" "" "" "0000324925" "00323736" "1" "00085" "00085" "2008-03-17 11:42:16" "00085" "2009-12-01 13:33:55" "?" "?" "" "" "0000324926" "00323737" "1" "00085" "00085" "2008-05-01 11:33:17" "00085" "2014-04-29 09:16:35" "RT-PCR;SEQ;NUC" "RNA" "" "" "0000324927" "00323738" "1" "00085" "00085" "2008-05-01 11:54:53" "00085" "2009-12-01 13:34:19" "DHPLC;PCR;SEQ" "DNA" "" "" "0000324928" "00323739" "1" "00085" "00085" "2008-03-17 11:43:13" "00085" "2014-01-21 15:36:49" "?" "?" "" "" "0000324929" "00323740" "1" "03894" "03894" "2018-09-26 11:27:41" "" "" "PCR;SEQ" "DNA" "" "" "0000324930" "00323741" "1" "03704" "00085" "2009-02-25 11:10:46" "00085" "2011-08-25 14:44:23" "PCR;SEQ" "DNA" "" "" "0000324931" "00323742" "1" "03853" "03853" "2009-10-06 13:40:37" "00085" "2009-10-20 14:39:17" "SEQ" "DNA" "" "" "0000324932" "00323743" "1" "03894" "03894" "2018-09-27 05:40:06" "" "" "PCR;SEQ" "DNA" "" "" "0000324933" "00323744" "1" "03855" "03855" "2010-01-05 16:15:45" "" "" "SEQ" "DNA" "" "" "0000324934" "00323745" "1" "01819" "01819" "2011-09-27 12:47:03" "" "" "PCR;SEQ" "DNA" "" "" "0000324935" "00323746" "1" "03704" "00085" "2008-03-17 11:46:27" "00085" "2009-12-01 13:34:59" "?" "?" "" "" "0000324936" "00323747" "1" "00085" "00085" "2012-01-10 11:02:20" "00085" "2012-01-10 11:11:14" "?" "DNA" "" "" "0000324937" "00323748" "1" "03894" "03894" "2018-09-26 14:09:08" "" "" "PCR;SEQ" "DNA" "" "" "0000324938" "00323749" "1" "03704" "00085" "2009-02-25 11:22:02" "00085" "2011-08-25 14:44:23" "PCR;SEQ" "DNA" "" "" "0000324939" "00323750" "1" "00085" "00085" "2008-06-18 11:48:01" "00085" "2013-04-24 16:49:07" "PCR;SEQ" "DNA" "" "" "0000324940" "00323751" "1" "00085" "00085" "2011-11-02 10:57:29" "00085" "2011-11-02 11:19:12" "DHPLC;PCR;SEQ" "DNA" "" "" "0000324941" "00323752" "1" "03870" "03870" "2009-09-29 15:17:46" "00085" "2013-04-17 10:00:18" "DHPLC;SEQ" "DNA" "" "" "0000324942" "00323753" "1" "00085" "00085" "2016-06-14 13:15:47" "" "" "PCR;SEQ" "DNA" "" "" "0000324943" "00323754" "1" "03855" "03855" "2009-12-30 12:08:44" "" "" "SEQ" "DNA" "" "" "0000324944" "00323755" "1" "00085" "00085" "2019-09-02 12:51:33" "" "" "SEQ" "DNA" "" "" "0000324945" "00323756" "1" "00085" "00085" "2011-06-27 13:54:33" "" "" "PCR;SEQ" "DNA" "" "" "0000324946" "00323757" "1" "03879" "03879" "2014-12-04 08:52:33" "00085" "2015-08-10 09:13:25" "PCR;SEQ" "DNA" "" "" "0000324947" "00323758" "1" "00085" "00085" "2008-05-01 11:58:10" "00085" "2013-04-24 16:49:07" "PCR;SEQ" "DNA" "" "" "0000324948" "00323759" "1" "00085" "00085" "2019-09-04 13:40:17" "" "" "SEQ" "DNA" "" "" "0000324949" "00323760" "1" "03894" "03894" "2018-09-26 13:58:31" "" "" "PCR;SEQ" "DNA" "" "" "0000324950" "00323761" "1" "00085" "00085" "2015-03-10 13:03:04" "00085" "2016-02-16 13:41:40" "PCR;SEQ;arraySEQ" "DNA" "" "" "0000324951" "00323762" "1" "00085" "00085" "2011-04-14 14:35:11" "00085" "2011-04-18 10:03:50" "?" "?" "" "" "0000324952" "00323763" "1" "00085" "00085" "2008-03-17 11:49:10" "00085" "2013-04-24 09:31:52" "?" "?" "" "" "0000324953" "00323764" "1" "03865" "03865" "2012-06-25 08:05:20" "00085" "2013-08-23 14:02:47" "MS;PCR;SEQ" "DNA" "" "" "0000324954" "00323765" "1" "03855" "03855" "2010-01-05 15:04:44" "" "" "SEQ" "DNA" "" "" "0000324955" "00323766" "1" "03894" "03894" "2018-09-26 12:12:34" "" "" "PCR;SEQ" "DNA" "" "" "0000324956" "00323767" "1" "00085" "00085" "2008-05-01 11:48:42" "00085" "2013-04-24 16:47:03" "RT-PCR;SEQ" "RNA" "" "" "0000324957" "00323768" "1" "00085" "00085" "2008-05-01 11:51:19" "00085" "2013-04-24 16:51:06" "PCR;SEQ" "DNA" "" "" "0000324958" "00323769" "1" "01819" "01819" "2011-09-27 12:48:20" "" "" "PCR;SEQ" "DNA" "" "" "0000324959" "00323770" "1" "00085" "00085" "2016-06-14 10:39:01" "" "" "PCR;SEQ" "DNA" "" "" "0000324960" "00323771" "1" "00085" "00085" "2018-01-19 13:30:49" "" "" "PCR;SEQ" "DNA" "" "" "0000324961" "00323772" "1" "03894" "03894" "2018-09-26 11:28:41" "" "" "PCR;SEQ" "DNA" "" "" "0000324962" "00323773" "1" "00085" "00085" "2008-05-01 14:03:12" "00085" "2014-04-29 16:48:25" "RT-PCR;SEQ" "RNA" "" "" "0000324963" "00323774" "1" "01819" "01819" "2011-09-27 12:49:30" "" "" "PCR;SEQ" "DNA" "" "" "0000324964" "00323775" "1" "00085" "00085" "2009-03-03 14:21:02" "00085" "2012-03-08 10:08:24" "PCR;SEQ" "DNA" "" "" "0000324965" "00323776" "1" "00085" "00085" "2015-12-10 09:28:37" "" "" "PCR;SEQ" "DNA" "" "" "0000324966" "00323777" "1" "00085" "00085" "2018-01-19 13:46:43" "" "" "PCR;PTT;RT-PCR;SEQ" "DNA" "" "" "0000324967" "00323778" "1" "03855" "03855" "2010-01-05 14:59:38" "" "" "SEQ" "DNA" "" "" "0000324968" "00323779" "1" "01819" "01819" "2011-09-27 12:50:42" "" "" "PCR;SEQ" "DNA" "" "" "0000324969" "00323780" "1" "03865" "03865" "2012-06-25 08:06:58" "00085" "2013-08-23 14:03:02" "MS;PCR;SEQ" "DNA" "" "" "0000324970" "00323781" "1" "03894" "03894" "2018-09-26 12:22:01" "" "" "PCR;SEQ" "DNA" "" "" "0000324971" "00323782" "1" "03704" "00085" "2008-03-17 11:53:18" "00085" "2009-12-01 13:37:01" "?" "?" "" "" "0000324972" "00323783" "1" "00085" "00085" "2011-04-18 09:57:27" "" "" "?" "?" "" "" "0000324973" "00323784" "1" "00085" "00085" "2008-03-17 11:55:27" "00085" "2009-12-01 13:37:19" "?" "?" "" "" "0000324974" "00323785" "1" "00085" "00085" "2008-08-06 10:35:43" "00085" "2013-04-24 16:49:07" "PCR;SEQ" "DNA" "" "" "0000324975" "00323786" "1" "03855" "03855" "2010-01-05 16:23:08" "" "" "SEQ" "DNA" "" "" "0000324976" "00323787" "1" "03879" "03879" "2014-12-05 10:11:40" "00085" "2015-08-07 14:57:48" "PCR;SEQ" "DNA" "" "" "0000324977" "00323788" "1" "00085" "00085" "2019-08-19 14:17:16" "" "" "SEQ" "DNA" "" "" "0000324978" "00323789" "1" "00085" "00085" "2019-09-04 13:37:32" "" "" "SEQ" "DNA" "" "" "0000324979" "00323790" "1" "03865" "03865" "2012-06-25 08:11:16" "00085" "2013-08-23 14:03:25" "MS;PCR;SEQ" "DNA" "" "" "0000324980" "00323791" "1" "00475" "00475" "2010-01-15 14:02:48" "" "" "SEQ" "DNA" "" "" "0000324981" "00323792" "1" "00085" "00085" "2008-08-06 10:31:51" "00085" "2012-07-10 13:39:28" "CSGE;PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000324982" "00323793" "1" "03704" "00085" "2009-02-24 15:49:34" "00085" "2011-08-25 14:44:23" "PCR;SEQ" "DNA" "" "" "0000324983" "00323794" "1" "03865" "03865" "2012-06-25 08:12:56" "00085" "2013-08-23 14:03:49" "MS;PCR;SEQ" "DNA" "" "" "0000324984" "00323795" "1" "00085" "00085" "2018-01-19 09:46:22" "" "" "PCR;SEQ" "DNA" "" "" "0000324985" "00323796" "1" "03894" "03894" "2018-09-27 12:21:59" "00085" "2019-09-11 15:25:42" "PCR;SEQ" "DNA" "" "" "0000324986" "00323797" "1" "00085" "00085" "2019-08-14 10:42:12" "00085" "2019-08-23 10:39:24" "SEQ" "DNA" "" "" "0000324987" "00323798" "1" "00085" "00085" "2019-08-23 10:50:00" "" "" "SEQ" "DNA" "" "" "0000324988" "00323799" "1" "00085" "00085" "2008-05-01 14:41:24" "00085" "2013-04-24 16:57:06" "CSGE;SEQ" "DNA" "" "" "0000324989" "00323800" "1" "00085" "00085" "2014-11-05 09:20:24" "" "" "SEQ" "DNA" "" "" "0000324990" "00323801" "1" "03870" "03870" "2011-05-18 12:37:02" "00085" "2013-04-22 11:24:25" "DHPLC;SEQ" "DNA" "" "" "0000324991" "00323802" "1" "03870" "03870" "2010-07-26 15:50:43" "00085" "2013-04-17 10:00:18" "DHPLC;SEQ" "DNA" "" "" "0000324992" "00323803" "1" "03870" "03870" "2017-05-26 13:56:04" "" "" "SEQ" "DNA" "" "" "0000324993" "00323804" "1" "03870" "03870" "2017-05-26 13:57:52" "" "" "SEQ" "DNA" "" "" "0000324994" "00323805" "1" "00085" "00085" "2008-05-01 14:46:10" "00085" "2009-12-01 13:38:19" "RT-PCR;SEQ" "RNA" "" "" "0000324995" "00323806" "1" "00085" "00085" "2008-03-17 11:56:29" "00085" "2014-01-21 15:37:24" "?" "?" "" "" "0000324996" "00323807" "1" "00085" "00085" "2008-03-17 11:57:11" "00085" "2014-01-21 15:38:01" "?" "?" "" "" "0000324997" "00323808" "1" "03855" "03855" "2009-12-30 12:10:22" "" "" "SEQ" "DNA" "" "" "0000325000" "00323811" "1" "01819" "01819" "2011-09-27 12:52:56" "" "" "PCR;SEQ" "DNA" "" "" "0000325001" "00323812" "1" "03855" "03855" "2009-12-30 11:58:53" "" "" "SEQ" "DNA" "" "" "0000325002" "00323813" "1" "03704" "00085" "2009-02-26 10:29:41" "00085" "2011-08-25 14:44:23" "PCR;SEQ" "DNA" "" "" "0000325003" "00323814" "1" "03704" "00085" "2008-08-06 10:41:25" "00085" "2009-12-01 13:39:00" "?" "?" "" "" "0000325004" "00323815" "1" "00085" "00085" "2008-05-01 14:58:23" "00085" "2009-12-01 13:39:14" "RT-PCR;SEQ" "RNA" "" "" "0000325005" "00323816" "1" "00085" "00085" "2008-05-01 15:04:07" "00085" "2009-12-01 13:39:29" "NUC;RT-PCR;SEQ" "RNA" "" "" "0000325006" "00323817" "1" "03704" "00085" "2008-03-17 11:58:20" "00085" "2009-12-01 13:39:43" "?" "?" "" "" "0000325007" "00323818" "1" "00085" "00085" "2008-05-01 15:07:59" "00085" "2013-04-24 17:00:35" "RT-PCR;SEQ;SSCA" "RNA" "" "" "0000325008" "00323819" "1" "03704" "00085" "2011-03-30 16:25:24" "" "" "PCR;SEQ" "DNA" "" "" "0000325009" "00323820" "1" "00085" "00085" "2008-05-01 15:11:21" "00085" "2013-04-24 16:57:06" "CSGE;SEQ" "DNA" "" "" "0000325010" "00323821" "1" "03704" "00085" "2008-06-18 11:55:33" "00085" "2013-04-24 10:41:34" "RT-PCR;SEQ" "RNA" "" "" "0000325011" "00323822" "1" "00085" "00085" "2014-10-08 13:23:50" "00085" "2014-10-08 13:27:20" "SEQ-NG" "DNA" "" "" "0000325012" "00323823" "1" "03855" "03855" "2010-01-05 16:08:43" "00085" "2010-04-08 10:46:14" "SEQ" "DNA" "" "" "0000325013" "00323824" "1" "03891" "03891" "2018-06-14 14:56:01" "00085" "2018-06-22 10:50:45" "SEQ" "DNA" "" "" "0000325014" "00323825" "1" "00085" "00085" "2015-04-14 08:59:40" "" "" "SEQ-NG" "DNA" "" "" "0000325015" "00323826" "1" "00085" "00085" "2008-03-17 11:59:26" "00085" "2009-12-01 13:40:36" "?" "?" "" "" "0000325016" "00323827" "1" "00085" "00085" "2008-03-17 12:00:09" "00085" "2013-04-24 09:31:52" "?" "?" "" "" "0000325017" "00323828" "1" "00085" "00085" "2014-11-05 09:24:17" "" "" "SEQ" "DNA" "" "" "0000325018" "00323829" "1" "03872" "03872" "2015-05-12 16:41:30" "" "" "MCA;PCR;SEQ" "DNA" "" "" "0000325019" "00323830" "1" "00085" "00085" "2014-11-05 09:07:45" "" "" "SEQ" "DNA" "" "" "0000325020" "00323831" "1" "00085" "00085" "2019-09-02 12:54:49" "" "" "SEQ" "DNA" "" "" "0000325021" "00323832" "1" "03872" "03872" "2015-05-12 16:49:13" "00085" "2015-05-12 16:56:51" "MCA;PCR;SEQ" "DNA" "" "" "0000325022" "00323833" "1" "03894" "03894" "2018-09-26 11:51:24" "" "" "PCR;SEQ" "DNA" "" "" "0000325023" "00323834" "1" "03894" "03894" "2018-09-27 05:51:00" "" "" "PCR;SEQ" "DNA" "" "" "0000325024" "00323835" "1" "00085" "00085" "2019-08-19 16:48:39" "" "" "SEQ" "DNA" "" "" "0000325025" "00323836" "1" "00085" "00085" "2018-01-19 13:36:11" "" "" "PCR;SEQ" "DNA" "" "" "0000325026" "00323837" "1" "00085" "00085" "2018-01-19 13:40:09" "" "" "PCR;SEQ" "DNA" "" "" "0000325027" "00323838" "1" "03861" "03861" "2013-05-21 11:13:29" "" "" "SEQ" "DNA" "" "" "0000325028" "00323839" "1" "00085" "00085" "2008-05-01 14:18:01" "00085" "2011-04-18 10:34:55" "DHPLC;PCR;SEQ" "DNA" "" "" "0000325029" "00323840" "1" "00085" "00085" "2008-03-17 12:01:14" "00085" "2013-04-24 09:31:52" "?" "?" "" "" "0000325030" "00323841" "1" "03885" "03885" "2016-10-06 19:50:01" "" "" "SEQ" "DNA" "" "" "0000325031" "00323842" "1" "01819" "01819" "2011-09-27 12:54:49" "" "" "PCR;SEQ" "DNA" "" "" "0000325032" "00323843" "1" "03853" "03853" "2009-10-06 13:42:58" "" "" "SEQ" "DNA" "" "" "0000325033" "00323844" "1" "03704" "00085" "2008-08-06 10:45:28" "00085" "2009-12-01 13:41:23" "?" "?" "" "" "0000325034" "00323845" "1" "00085" "00085" "2008-08-06 10:47:17" "00085" "2009-12-01 13:41:36" "?" "?" "" "" "0000325035" "00323846" "1" "00085" "00085" "2008-08-06 10:48:50" "00085" "2009-12-01 13:41:46" "?" "?" "" "" "0000325036" "00323847" "1" "00085" "00085" "2008-08-06 10:51:31" "00085" "2013-04-24 16:57:06" "CSGE;PCR;SEQ" "DNA" "" "" "0000325037" "00323848" "1" "03879" "03879" "2014-12-09 12:46:37" "00085" "2015-08-07 15:15:03" "PCR;SEQ" "DNA" "" "" "0000325038" "00323849" "1" "03870" "03870" "2017-05-26 13:59:39" "" "" "MCA;SEQ" "DNA" "" "" "0000325039" "00323850" "1" "00085" "00085" "2018-05-31 09:22:09" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" "" "0000325040" "00323851" "1" "03894" "03894" "2018-09-26 12:50:41" "" "" "PCR;SEQ" "DNA" "" "" "0000325041" "00323852" "1" "03894" "03894" "2018-09-26 13:21:23" "" "" "PCR;SEQ" "DNA" "" "" "0000325042" "00323853" "1" "03894" "03894" "2018-09-27 08:46:37" "" "" "PCR;SEQ" "DNA" "" "" "0000325043" "00323854" "1" "03885" "03885" "2016-10-06 19:47:19" "" "" "SEQ" "DNA" "" "" "0000325044" "00323855" "1" "00085" "00085" "2008-03-17 12:02:25" "00085" "2009-12-01 13:42:13" "?" "?" "" "" "0000325045" "00323856" "1" "00085" "00085" "2008-03-17 12:03:36" "00085" "2014-04-29 16:49:19" "?" "?" "" "" "0000325046" "00323857" "1" "00085" "00085" "2008-03-17 12:04:21" "00085" "2009-12-01 13:42:38" "?" "?" "" "" "0000325047" "00323858" "1" "03704" "00085" "2008-03-17 12:05:28" "00085" "2009-12-01 13:42:52" "?" "?" "" "" "0000325048" "00323859" "1" "00085" "00085" "2008-05-01 15:18:05" "00085" "2009-12-01 13:43:05" "RT-PCR;SEQ;SSCA" "RNA" "" "" "0000325049" "00323860" "1" "00085" "00085" "2008-05-01 15:19:08" "00085" "2009-12-01 13:43:15" "RT-PCR;SEQ;SSCA" "RNA" "" "" "0000325050" "00323861" "1" "00085" "00085" "2008-05-01 15:21:14" "00085" "2013-04-24 17:00:35" "RT-PCR;SEQ;SSCA" "RNA" "" "" "0000325051" "00323862" "1" "03702" "00085" "2008-05-01 15:27:03" "00085" "2010-08-13 13:34:12" "PAGE;PCR;RT-PCR;SEQ" "?" "" "" "0000325052" "00323863" "1" "03704" "00085" "2009-02-24 15:52:29" "00085" "2013-04-24 09:45:15" "PCR;SEQ" "DNA" "" "" "0000325053" "00323864" "1" "01819" "01819" "2011-09-27 12:55:57" "" "" "PCR;SEQ" "DNA" "" "" "0000325054" "00323865" "1" "00085" "00085" "2008-05-01 15:34:06" "00085" "2009-12-01 13:43:55" "CMC;RT-PCR;SEQ" "RNA" "" "" "0000325055" "00323866" "1" "03704" "00085" "2008-03-17 12:06:35" "00085" "2009-12-01 13:44:12" "?" "?" "" "" "0000325056" "00323867" "1" "03704" "00085" "2009-02-24 15:57:31" "00085" "2011-08-25 14:44:23" "PCR;SEQ" "DNA" "" "" "0000325057" "00323868" "1" "03894" "03894" "2018-09-26 13:55:35" "00006" "2021-10-30 10:44:54" "SEQ-NG;PCR;SEQ" "DNA" "" "custom gene panel" "0000325058" "00323869" "1" "03855" "03855" "2010-01-05 15:48:03" "00085" "2010-04-08 09:19:31" "SEQ" "DNA" "" "" "0000325059" "00323870" "1" "03861" "03861" "2010-05-28 14:41:45" "00085" "2010-05-28 14:57:27" "SEQ" "DNA" "" "" "0000325060" "00323871" "1" "03872" "03872" "2015-05-15 17:25:35" "" "" "MCA;PCR;SEQ" "DNA" "" "" "0000325061" "00323872" "1" "03704" "00085" "2009-02-26 15:39:15" "00085" "2011-08-25 14:44:23" "PCR;SEQ" "DNA" "" "" "0000325062" "00323873" "1" "00085" "00085" "2008-03-17 12:07:34" "00085" "2009-12-01 13:44:33" "?" "?" "" "" "0000325063" "00323874" "1" "00085" "00085" "2008-03-17 12:08:40" "00085" "2009-12-01 13:44:56" "?" "?" "" "" "0000325064" "00323875" "1" "00085" "00085" "2014-04-02 11:29:23" "" "" "PCR;SEQ" "DNA" "" "" "0000325065" "00323876" "1" "00085" "00085" "2019-09-02 12:56:22" "" "" "SEQ" "DNA" "" "" "0000325066" "00323877" "1" "00085" "00085" "2008-05-01 15:38:43" "00085" "2009-12-01 13:45:12" "RT-PCR;SEQ" "RNA" "" "" "0000325067" "00323878" "1" "03879" "03879" "2014-12-08 12:03:49" "00085" "2015-08-07 15:15:47" "PCR;SEQ" "DNA" "" "" "0000325068" "00323879" "1" "03879" "03879" "2014-12-08 12:05:17" "00085" "2015-08-07 15:16:47" "PCR;SEQ" "DNA" "" "" "0000325069" "00323880" "1" "00085" "00085" "2019-08-16 09:52:44" "00085" "2019-08-28 16:23:07" "SEQ-NG" "DNA" "" "" "0000325070" "00323881" "1" "03894" "03894" "2018-09-27 07:56:20" "03894" "2018-09-27 14:32:14" "PCR;SEQ" "DNA" "" "" "0000325071" "00323882" "1" "00085" "00085" "2008-08-06 11:02:50" "00085" "2012-07-10 13:38:38" "PCR;SEQ" "DNA" "" "" "0000325072" "00323883" "1" "03853" "03853" "2008-11-05 17:05:23" "00085" "2008-11-19 09:53:47" "SEQ" "DNA" "" "" "0000325073" "00323884" "1" "03894" "03894" "2019-10-14 03:37:33" "00006" "2021-10-30 10:44:54" "SEQ;SEQ-NG" "DNA" "" "WES" "0000325074" "00323885" "1" "00085" "00085" "2008-05-01 15:49:06" "00085" "2013-04-24 10:35:25" "PCR;SEQ" "DNA" "" "" "0000325075" "00323886" "1" "00085" "00085" "2008-03-17 12:11:10" "00085" "2009-12-01 13:46:30" "?" "?" "" "" "0000325076" "00323887" "1" "03855" "03855" "2010-01-05 15:28:21" "" "" "SEQ" "DNA" "" "" "0000325077" "00323888" "1" "00085" "00085" "2008-06-18 12:42:57" "00085" "2013-04-24 16:49:07" "PCR;SEQ" "DNA" "" "" "0000325078" "00323889" "1" "00085" "00085" "2011-06-27 13:57:09" "00085" "2011-06-27 13:58:17" "PCR;SEQ" "DNA" "" "" "0000325079" "00323890" "1" "00085" "00085" "2008-03-17 12:12:17" "00085" "2009-12-01 13:46:46" "?" "?" "" "" "0000325080" "00323891" "1" "03704" "00085" "2008-06-19 14:13:40" "00085" "2013-04-24 10:41:34" "RT-PCR;SEQ" "RNA" "" "" "0000325081" "00323892" "1" "00085" "00085" "2008-06-19 14:21:18" "00085" "2011-08-25 15:10:06" "?" "?" "" "" "0000325082" "00323893" "1" "00085" "00085" "2008-05-01 15:53:12" "00085" "2013-04-24 16:51:06" "PCR;SEQ" "DNA" "" "" "0000325083" "00323894" "1" "03870" "03870" "2009-11-25 16:55:17" "00085" "2013-04-17 10:00:18" "SEQ" "DNA" "" "" "0000325084" "00323895" "1" "01819" "01819" "2011-09-27 12:57:12" "" "" "PCR;SEQ" "DNA" "" "" "0000325085" "00323896" "1" "03704" "00085" "2011-04-08 08:18:55" "00085" "2011-04-08 08:20:28" "PCR;SEQ" "DNA" "" "" "0000325086" "00323897" "1" "00085" "00085" "2019-08-20 14:55:33" "" "" "SEQ-NG" "DNA" "" "" "0000325087" "00323898" "1" "00085" "00085" "2008-05-01 15:44:52" "00085" "2013-04-24 17:07:49" "RT-PCR;SEQ" "RNA" "" "" "0000325088" "00323899" "1" "00085" "00085" "2009-12-30 11:48:17" "00085" "2016-06-06 14:16:20" "PCR;SEQ" "DNA" "" "" "0000325089" "00323900" "1" "00085" "00085" "2013-12-20 14:07:39" "00085" "2016-06-03 10:11:47" "PCR;SEQ" "DNA" "" "" "0000325090" "00323901" "1" "03879" "00085" "2016-06-02 13:55:57" "" "" "PCR;SEQ" "DNA" "" "" "0000325091" "00323902" "1" "03855" "00085" "2016-06-06 13:49:29" "" "" "PCR;SEQ" "DNA" "" "" "0000325092" "00323903" "1" "00085" "00085" "2016-06-06 14:39:53" "00085" "2016-06-06 14:40:30" "PCR;SEQ" "DNA" "" "" "0000325093" "00323904" "1" "03704" "00085" "2008-03-17 12:13:33" "00085" "2009-12-01 13:47:52" "?" "?" "" "" "0000325094" "00323905" "1" "03704" "00085" "2009-02-26 15:41:57" "00085" "2011-08-25 14:44:23" "PCR;SEQ" "DNA" "" "" "0000325095" "00323906" "1" "03704" "00085" "2008-03-17 12:14:39" "00085" "2009-12-01 13:48:09" "?" "?" "" "" "0000325096" "00323907" "1" "03704" "00085" "2008-03-17 12:15:28" "00085" "2009-12-01 13:48:17" "?" "?" "" "" "0000325097" "00323908" "1" "00085" "00085" "2008-03-17 12:16:18" "00085" "2009-12-01 13:48:26" "?" "?" "" "" "0000325098" "00323909" "1" "00085" "00085" "2008-03-17 12:17:01" "00085" "2009-12-01 13:48:36" "?" "?" "" "" "0000325099" "00323910" "1" "00085" "00085" "2008-03-17 12:17:45" "00085" "2009-12-01 13:48:44" "?" "?" "" "" "0000325100" "00323911" "1" "00085" "00085" "2008-03-17 12:19:10" "00085" "2014-04-29 16:50:14" "?" "?" "" "" "0000325101" "00323912" "1" "00085" "00085" "2008-03-17 12:19:49" "00085" "2009-12-01 13:49:11" "?" "?" "" "" "0000325102" "00323913" "1" "00085" "00085" "2008-03-17 12:20:36" "00085" "2009-12-01 13:49:24" "?" "?" "" "" "0000325103" "00323914" "1" "00085" "00085" "2008-03-17 12:21:16" "00085" "2014-01-21 15:38:35" "?" "?" "" "" "0000325104" "00323915" "1" "00085" "00085" "2008-05-01 16:01:45" "00085" "2013-04-24 17:03:42" "RT-PCR;SEQ;NUC" "RNA" "" "" "0000325105" "00323916" "1" "00085" "00085" "2008-05-01 16:04:38" "00085" "2014-04-29 16:51:07" "RT-PCR;SEQ;CMC" "RNA" "" "" "0000325106" "00323917" "1" "00085" "00085" "2008-05-01 16:11:03" "00085" "2014-04-29 16:52:05" "RT-PCR;SEQ;SSCA" "RNA" "" "" "0000325107" "00323918" "1" "00085" "00085" "2008-05-01 16:15:53" "00085" "2013-04-24 16:57:06" "CSGE;PCR;SEQ" "DNA" "" "" "0000325108" "00323919" "1" "00085" "00085" "2008-05-01 16:17:27" "00085" "2013-04-24 16:49:07" "PCR;SEQ" "DNA" "" "" "0000325109" "00323920" "1" "03870" "03870" "2009-04-28 09:58:40" "00085" "2013-04-17 10:00:18" "DHPLC;SEQ" "DNA" "" "" "0000325110" "00323921" "1" "03855" "03855" "2009-12-30 11:52:04" "" "" "SEQ" "DNA" "" "" "0000325111" "00323922" "1" "01819" "01819" "2011-09-27 12:58:27" "" "" "PCR;SEQ" "DNA" "" "" "0000325112" "00323923" "1" "01819" "01819" "2011-09-27 12:59:37" "" "" "PCR;SEQ" "DNA" "" "" "0000325113" "00323924" "1" "03865" "03865" "2012-06-25 08:14:45" "00085" "2013-08-27 10:28:06" "MS;PCR;SEQ" "DNA" "" "" "0000325114" "00323925" "1" "03865" "03865" "2012-06-25 08:16:30" "" "" "PCR;SEQ" "DNA" "" "" "0000325115" "00323926" "1" "03865" "03865" "2013-08-22 11:22:13" "00085" "2013-08-23 14:21:26" "MS;PCR;SEQ" "DNA" "" "" "0000325116" "00323927" "1" "03872" "03872" "2014-11-02 12:54:45" "" "" "MCA;PCR;SEQ" "DNA" "" "" "0000325117" "00323928" "1" "03879" "03879" "2014-12-08 14:25:05" "00085" "2015-08-10 09:44:19" "PCR;SEQ" "DNA" "" "" "0000325118" "00323929" "1" "00085" "00085" "2015-04-14 14:18:36" "00085" "2015-04-14 14:27:07" "PCR;SEQ;SEQ-NG" "DNA" "" "" "0000325119" "00323930" "1" "01819" "01819" "2016-11-28 13:56:31" "" "" "PCR;SEQ" "DNA" "" "" "0000325120" "00323931" "1" "03870" "03870" "2017-05-26 14:01:23" "" "" "SEQ" "DNA" "" "" "0000325121" "00323932" "1" "03870" "03870" "2017-05-26 14:02:53" "" "" "MCA;SEQ" "DNA" "" "" "0000325122" "00323933" "1" "03870" "03870" "2017-05-26 14:04:40" "" "" "MCA;SEQ" "DNA" "" "" "0000325123" "00323934" "1" "03894" "03894" "2018-09-26 12:02:19" "03894" "2018-09-28 07:02:52" "PCR;SEQ" "DNA" "" "" "0000325124" "00323935" "1" "03894" "03894" "2018-09-26 13:23:58" "" "" "PCR;SEQ" "DNA" "" "" "0000325125" "00323936" "1" "03894" "03894" "2018-09-26 13:31:03" "" "" "PCR;SEQ" "DNA" "" "" "0000325126" "00323937" "1" "03894" "03894" "2018-09-26 13:44:45" "" "" "PCR;SEQ" "DNA" "" "" "0000325127" "00323938" "1" "03894" "03894" "2018-09-26 13:49:03" "" "" "PCR;SEQ" "DNA" "" "" "0000325128" "00323939" "1" "03894" "03894" "2018-09-26 14:18:47" "" "" "PCR;SEQ" "DNA" "" "" "0000325129" "00323940" "1" "03894" "03894" "2018-09-27 05:45:03" "" "" "PCR;SEQ" "DNA" "" "" "0000325130" "00323941" "1" "00085" "00085" "2019-08-15 16:43:57" "00085" "2019-08-28 16:19:48" "SEQ-NG" "DNA" "" "" "0000325131" "00323942" "1" "03897" "03897" "2020-04-11 17:26:13" "" "" "PCR;SEQ" "DNA" "" "" "0000325132" "00323943" "1" "01819" "01819" "2011-09-27 13:01:59" "" "" "PCR;SEQ" "DNA" "" "" "0000325133" "00323944" "1" "00085" "00085" "2008-03-17 12:23:35" "00085" "2009-12-01 13:50:56" "?" "?" "" "" "0000325134" "00323945" "1" "00085" "00085" "2008-03-17 12:24:23" "00085" "2009-12-01 13:51:06" "?" "?" "" "" "0000325135" "00323946" "1" "03872" "03872" "2015-05-23 14:28:42" "" "" "MCA;PCR;SEQ" "DNA" "" "" "0000325136" "00323947" "1" "03879" "03879" "2014-12-10 14:07:35" "00085" "2015-08-07 15:17:51" "PCR;SEQ" "DNA" "" "" "0000325137" "00323948" "1" "03865" "03865" "2012-06-25 08:19:01" "00085" "2013-08-23 14:04:34" "MS;PCR;SEQ" "DNA" "" "" "0000325138" "00323949" "1" "03865" "03865" "2012-06-25 08:20:39" "00085" "2013-08-23 14:18:59" "MS;PCR;SEQ" "DNA" "" "" "0000325139" "00323950" "1" "03865" "03865" "2012-06-25 08:22:37" "00085" "2013-08-23 14:19:20" "MS;PCR;SEQ" "DNA" "" "" "0000325140" "00323951" "1" "00085" "00085" "2009-03-03 16:32:15" "00085" "2013-04-24 17:08:24" "SEQ;RT-PCR" "RNA" "" "" "0000325141" "00323952" "1" "03704" "00085" "2011-04-08 08:23:19" "" "" "PCR;SEQ" "DNA" "" "" "0000325142" "00323953" "1" "00085" "00085" "2008-03-17 12:25:23" "00085" "2014-01-21 15:39:12" "?" "?" "" "" "0000325143" "00323954" "1" "03704" "00085" "2008-03-17 12:26:23" "00085" "2009-12-01 13:51:54" "?" "?" "" "" "0000325144" "00323955" "1" "03704" "00085" "2009-02-24 16:00:02" "00085" "2013-04-24 09:45:15" "PCR;SEQ" "DNA" "" "" "0000325145" "00323956" "1" "03853" "03853" "2009-10-06 13:24:14" "00085" "2009-10-20 11:09:21" "SEQ" "DNA" "" "" "0000325146" "00323957" "1" "03879" "03879" "2014-12-08 10:34:44" "00085" "2015-08-07 15:18:58" "PCR;SEQ" "DNA" "" "" "0000325147" "00323958" "1" "00085" "00085" "2008-08-06 11:40:40" "00085" "2012-07-10 13:37:27" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000325148" "00323959" "1" "00085" "00085" "2008-03-17 12:28:28" "00085" "2014-01-21 15:39:47" "?" "?" "" "" "0000325149" "00323960" "1" "03879" "03879" "2014-12-05 09:58:49" "00085" "2015-08-07 15:19:32" "PCR;SEQ" "DNA" "" "" "0000325150" "00323961" "1" "03894" "03894" "2018-09-26 13:08:28" "" "" "PCR;SEQ" "DNA" "" "" "0000325151" "00323962" "1" "03704" "00085" "2011-04-08 08:26:11" "" "" "PCR;SEQ" "DNA" "" "" "0000325152" "00323963" "1" "00085" "00085" "2008-03-17 12:30:48" "00085" "2014-01-21 15:40:29" "?" "?" "" "" "0000325153" "00323964" "1" "00085" "00085" "2008-03-17 12:34:41" "00085" "2009-12-01 13:53:08" "?" "?" "" "" "0000325154" "00323965" "1" "00085" "00085" "2014-10-08 13:46:51" "00085" "2014-10-08 13:47:13" "SEQ-NG" "DNA" "" "" "0000325155" "00323966" "1" "01819" "01819" "2011-09-27 13:03:58" "" "" "PCR;SEQ" "DNA" "" "" "0000325156" "00323967" "1" "00085" "00085" "2009-02-26 15:46:13" "00085" "2014-04-29 16:57:46" "PCR;SEQ" "DNA" "" "" "0000325157" "00323968" "1" "00085" "00085" "2009-11-30 13:49:51" "" "" "?" "?" "" "" "0000325158" "00323969" "1" "00085" "00085" "2008-03-17 12:35:57" "00085" "2013-04-24 09:31:52" "?" "?" "" "" "0000325159" "00323970" "1" "03855" "03855" "2010-01-05 16:27:22" "" "" "SEQ" "DNA" "" "" "0000325160" "00323971" "1" "00085" "00085" "2008-08-06 11:12:35" "00085" "2013-09-13 13:06:43" "?" "?" "" "" "0000325161" "00323972" "1" "00085" "00085" "2008-03-17 12:37:00" "00085" "2013-04-24 09:31:52" "?" "?" "" "" "0000325162" "00323973" "1" "03704" "00085" "2009-02-25 11:32:25" "00085" "2011-08-25 14:44:23" "PCR;SEQ" "DNA" "" "" "0000325163" "00323974" "1" "03872" "03872" "2014-12-21 00:39:25" "00085" "2015-09-07 08:50:33" "MCA;SEQ" "DNA" "" "" "0000325164" "00323975" "1" "03894" "03894" "2018-09-26 12:53:00" "" "" "PCR;SEQ" "DNA" "" "" "0000325165" "00323976" "1" "00085" "00085" "2019-03-19 14:15:45" "" "" "PCR;SEQ;SEQ-NG" "DNA" "" "" "0000325166" "00323977" "1" "00085" "00085" "2019-09-02 12:58:42" "" "" "SEQ" "DNA" "" "" "0000325167" "00323978" "1" "03865" "03865" "2012-06-25 08:24:12" "00085" "2013-08-23 14:20:02" "MS;PCR;SEQ" "DNA" "" "" "0000325168" "00323979" "1" "00085" "00085" "2009-11-30 14:38:22" "" "" "?" "?" "" "" "0000325169" "00323980" "1" "03894" "03894" "2018-09-26 13:18:48" "" "" "PCR;SEQ" "DNA" "" "" "0000325170" "00323981" "1" "03704" "00085" "2008-03-17 12:38:02" "00085" "2009-12-01 13:55:15" "?" "?" "" "" "0000325171" "00323982" "1" "00085" "00085" "2008-03-17 12:38:47" "00085" "2009-12-01 13:55:25" "?" "?" "" "" "0000325172" "00323983" "1" "03855" "03855" "2010-01-05 16:39:36" "" "" "SEQ" "DNA" "" "" "0000325173" "00323984" "1" "00085" "00085" "2008-03-17 12:39:47" "00085" "2009-12-01 13:55:42" "?" "?" "" "" "0000325174" "00323985" "1" "00475" "00475" "2010-01-15 13:59:56" "" "" "SEQ" "DNA" "" "" "0000325175" "00323986" "1" "03855" "03855" "2010-01-05 15:52:59" "" "" "SEQ" "DNA" "" "" "0000325176" "00323987" "1" "03704" "00085" "2008-03-17 12:40:46" "00085" "2009-12-01 13:56:00" "?" "?" "" "" "0000325177" "00323988" "1" "00085" "00085" "2008-05-02 08:36:24" "00085" "2013-04-24 10:35:25" "PCR;SEQ" "DNA" "" "" "0000325178" "00323989" "1" "03704" "00085" "2011-04-08 08:28:27" "" "" "PCR;SEQ" "DNA" "" "" "0000325179" "00323990" "1" "03704" "00085" "2008-03-17 12:41:56" "00085" "2009-12-01 13:56:34" "?" "?" "" "" "0000325180" "00323991" "1" "00085" "00085" "2009-02-12 13:34:29" "00085" "2014-04-29 16:53:13" "PCR;SEQ;CSGE" "DNA" "" "" "0000325181" "00323992" "1" "01819" "01819" "2011-09-27 13:09:07" "" "" "PCR;SEQ" "DNA" "" "" "0000325182" "00323993" "1" "03855" "03855" "2010-01-05 16:24:41" "" "" "SEQ" "DNA" "" "" "0000325183" "00323994" "1" "00085" "00085" "2019-09-04 14:06:32" "" "" "SEQ" "DNA" "" "" "0000325184" "00323995" "1" "00085" "00085" "2014-08-05 14:42:16" "" "" "PCRm;SEQ" "DNA" "" "" "0000325185" "00323996" "1" "00085" "00085" "2008-06-19 14:40:38" "00085" "2009-12-01 13:56:50" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000325186" "00323997" "1" "00085" "00085" "2008-06-19 14:46:50" "00085" "2013-04-24 16:49:07" "PCR;RT-PCR" "DNA" "" "" "0000325187" "00323998" "1" "00085" "00085" "2008-05-02 08:40:16" "00085" "2014-04-30 12:48:08" "RT-PCR;SEQ;SSCA" "RNA" "" "" "0000325188" "00323999" "1" "03704" "00085" "2008-06-19 14:52:19" "00085" "2013-04-24 10:41:34" "RT-PCR;SEQ" "RNA" "" "" "0000325189" "00324000" "1" "00085" "00085" "2008-03-17 12:43:13" "00085" "2014-01-21 15:41:07" "?" "?" "" "" "0000325190" "00324001" "1" "00085" "00085" "2009-02-12 13:36:40" "00085" "2014-04-29 16:53:49" "PCR;SEQ;CSGE" "DNA" "" "" "0000325191" "00324002" "1" "00085" "00085" "2019-08-13 09:10:28" "00085" "2019-08-22 15:51:28" "SEQ-NG" "DNA" "" "" "0000325192" "00324003" "1" "00085" "00085" "2019-09-04 14:10:13" "" "" "SEQ" "DNA" "" "" "0000325193" "00324004" "1" "00085" "00085" "2008-05-02 08:44:20" "00085" "2013-04-24 16:57:06" "CSGE;PCR;SEQ" "DNA" "" "" "0000325194" "00324005" "1" "00085" "00085" "2019-09-02 13:00:24" "" "" "SEQ" "DNA" "" "" "0000325195" "00324006" "1" "00085" "00085" "2008-04-07 16:09:02" "00085" "2013-04-24 10:53:30" "PCR;SEQ" "DNA" "" "" "0000325196" "00324007" "1" "00085" "00085" "2008-05-02 08:57:11" "00085" "2014-04-29 16:55:11" "SEQ" "DNA" "" "" "0000325197" "00324008" "1" "00085" "00085" "2009-02-12 14:48:38" "00085" "2014-04-29 16:54:27" "PCR;SEQ;CSGE" "DNA" "" "" "0000325198" "00324009" "1" "03865" "03865" "2013-08-22 11:26:23" "00085" "2013-08-23 14:21:44" "MS;PCR;SEQ" "DNA" "" "" "0000325199" "00324010" "1" "03865" "03865" "2012-06-25 08:26:10" "00085" "2013-08-23 14:20:25" "MS;PCR;SEQ" "DNA" "" "" "0000325200" "00324011" "1" "03879" "03879" "2014-12-08 11:58:59" "00085" "2015-08-07 15:21:51" "PCR;SEQ" "DNA" "" "" "0000325201" "00324012" "1" "03704" "00085" "2008-03-17 12:44:26" "00085" "2009-12-01 13:59:18" "?" "?" "" "" "0000325202" "00324013" "1" "01819" "01819" "2016-11-28 13:41:07" "" "" "PCR;SEQ" "DNA" "" "" "0000325203" "00324014" "1" "03894" "03894" "2018-09-27 09:12:15" "" "" "PCR;SEQ" "DNA" "" "" "0000325204" "00324015" "1" "00085" "00085" "2011-05-03 15:48:28" "" "" "PCR;SEQ" "DNA" "" "" "0000325205" "00324016" "1" "03894" "03894" "2018-09-26 13:36:09" "" "" "PCR;SEQ" "DNA" "" "" "0000325206" "00324017" "1" "03704" "00085" "2008-03-17 12:45:25" "00085" "2009-12-01 13:59:42" "?" "?" "" "" "0000325207" "00324018" "1" "00085" "00085" "2018-01-19 09:08:20" "" "" "PCR;SEQ" "DNA" "" "" "0000325208" "00324019" "1" "00085" "00085" "2019-08-20 11:06:18" "" "" "SEQ" "DNA" "" "" "0000325209" "00324020" "1" "03855" "03855" "2010-01-05 15:08:24" "00085" "2014-04-02 11:33:29" "SEQ" "DNA" "" "" "0000325210" "00324021" "1" "00085" "00085" "2011-06-27 14:00:41" "00085" "2014-04-02 11:32:31" "PCR;SEQ" "DNA" "" "" "0000325211" "00324022" "1" "00085" "00085" "2014-04-02 11:35:41" "" "" "PCR;SEQ" "DNA" "" "" "0000325212" "00324023" "1" "00085" "00085" "2018-08-03 10:44:46" "" "" "PAGE;SEQ" "DNA" "" "" "0000325213" "00324024" "1" "01819" "01819" "2011-09-27 13:06:30" "" "" "PCR;SEQ" "DNA" "" "" "0000325214" "00324025" "1" "00085" "00085" "2009-11-30 14:39:42" "" "" "?" "?" "" "" "0000325215" "00324026" "1" "00085" "00085" "2011-05-03 15:38:04" "00085" "2012-07-10 09:57:06" "PCR;SEQ" "DNA" "" "" "0000325216" "00324027" "1" "03872" "03872" "2015-05-15 17:17:24" "" "" "MCA;PCR;SEQ" "DNA" "" "" "0000325217" "00324028" "1" "00085" "00085" "2016-02-05 13:09:16" "" "" "SEQ" "DNA" "" "" "0000325218" "00324029" "1" "00085" "00085" "2010-03-26 14:40:47" "00085" "2011-02-24 11:56:06" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000325219" "00324030" "1" "01819" "01819" "2014-04-30 10:09:13" "" "" "PCR;SEQ" "DNA" "" "" "0000325220" "00324031" "1" "00085" "00085" "2016-06-07 14:58:33" "00085" "2016-06-07 14:59:23" "PCR;SEQ;SEQ-NG" "DNA" "" "" "0000325221" "00324032" "1" "00085" "00085" "2009-11-19 16:22:51" "00085" "2014-06-26 15:25:05" "?" "?" "" "" "0000325222" "00324033" "1" "00085" "00085" "2008-03-18 09:27:30" "00085" "2014-06-27 09:06:39" "SEQ;CMC" "RNA" "" "" "0000325223" "00324034" "1" "03890" "03890" "2018-04-28 09:21:05" "" "" "SEQ-NG" "DNA" "" "" "0000325224" "00324035" "1" "03890" "03890" "2018-08-31 18:39:15" "" "" "SEQ-NG" "DNA" "" "" "0000325225" "00324036" "1" "03869" "03869" "2013-01-20 13:55:31" "00085" "2013-01-22 11:57:01" "RT-PCR;SEQ" "RNA" "" "" "0000325226" "00324037" "1" "03704" "00085" "2008-04-09 09:08:10" "00085" "2013-04-24 16:58:41" "CSGE;PCR;SEQ" "DNA" "" "" "0000325227" "00324038" "1" "03885" "03885" "2016-10-06 19:55:42" "" "" "SEQ-NG" "DNA" "" "" "0000325228" "00324039" "1" "00085" "00085" "2008-05-02 09:19:00" "00085" "2014-06-26 16:15:24" "SEQ" "?" "" "" "0000325229" "00324040" "1" "03704" "00085" "2008-04-09 09:05:07" "00085" "2013-04-24 16:58:41" "CSGE;PCR;SEQ" "DNA" "" "" "0000325230" "00324041" "1" "01819" "01819" "2014-01-21 12:37:28" "00085" "2014-09-18 14:29:41" "PCR;SEQ" "DNA" "" "" "0000325231" "00324042" "1" "00085" "00085" "2009-11-30 14:40:58" "" "" "?" "?" "" "" "0000325232" "00324043" "1" "00085" "00085" "2009-11-30 14:42:21" "" "" "?" "?" "" "" "0000325233" "00324044" "1" "03890" "03890" "2018-04-26 11:23:16" "00085" "2020-07-29 09:38:39" "SEQ-NG" "DNA" "" "" "0000325234" "00324045" "1" "03894" "03894" "2018-09-27 05:46:58" "" "" "PCR;SEQ" "DNA" "" "" "0000325235" "00324046" "1" "00085" "00085" "2008-05-02 09:31:15" "00085" "2013-04-24 10:35:25" "PCR;SEQ" "DNA" "" "" "0000325236" "00324047" "1" "00085" "00085" "2009-11-30 14:43:46" "" "" "?" "?" "" "" "0000325237" "00324048" "1" "00085" "00085" "2009-11-30 14:44:57" "" "" "?" "?" "" "" "0000325238" "00324049" "1" "03704" "00085" "2008-05-02 09:41:26" "00085" "2012-07-10 09:59:31" "RT-PCR;SEQ" "RNA" "" "" "0000325239" "00324050" "1" "00085" "00085" "2015-10-07 15:47:20" "00085" "2015-10-07 15:48:55" "SEQ-NG" "DNA" "" "" "0000325240" "00324051" "1" "00085" "00085" "2009-11-30 14:46:35" "" "" "?" "?" "" "" "0000325241" "00324052" "1" "03865" "03865" "2012-06-25 08:35:38" "03865" "2013-11-02 01:32:35" "PCR;SEQ;MS" "DNA" "" "" "0000325242" "00324053" "1" "00085" "00085" "2019-09-02 13:03:05" "" "" "SEQ" "DNA" "" "" "0000325243" "00324054" "1" "03861" "03861" "2010-06-08 10:55:59" "00085" "2010-06-08 11:08:45" "DHPLC;PCR;SEQ" "DNA" "" "" "0000325244" "00324055" "1" "01819" "01819" "2014-01-21 12:39:35" "00085" "2014-09-18 14:30:51" "PCR;SEQ" "DNA" "" "" "0000325245" "00324056" "1" "03894" "03894" "2018-09-26 13:52:52" "00006" "2021-10-30 10:44:54" "PCR;SEQ;SEQ-NG" "DNA" "" "WES" "0000325246" "00324057" "1" "00085" "00085" "2009-11-30 14:48:03" "" "" "?" "?" "" "" "0000325247" "00324058" "1" "01819" "01819" "2014-01-21 12:41:22" "00085" "2014-09-18 14:35:48" "PCR;SEQ" "DNA" "" "" "0000325248" "00324059" "1" "03872" "03872" "2015-05-21 16:36:35" "" "" "MCA;PCR;SEQ" "DNA" "" "" "0000325249" "00324060" "1" "00085" "00085" "2015-12-10 09:31:30" "" "" "PCR;SEQ" "DNA" "" "" "0000325250" "00324061" "1" "03894" "03894" "2018-09-26 10:39:55" "" "" "PCR;SEQ" "DNA" "" "" "0000325251" "00324062" "1" "00085" "00085" "2009-11-30 14:49:24" "" "" "?" "?" "" "" "0000325252" "00324063" "1" "00085" "00085" "2009-11-30 14:50:39" "" "" "?" "?" "" "" "0000325253" "00324064" "1" "03878" "03878" "2014-10-22 14:26:39" "00085" "2014-10-24 09:15:26" "SEQ" "DNA" "" "" "0000325254" "00324065" "1" "00085" "00085" "2018-08-03 10:34:54" "" "" "PCR;SEQ" "DNA" "" "" "0000325255" "00324066" "1" "03870" "03870" "2012-02-10 09:59:59" "00085" "2013-04-17 10:00:18" "DHPLC;SEQ" "DNA" "" "" "0000325256" "00324067" "1" "00085" "00085" "2013-03-04 11:38:54" "" "" "SEQ" "DNA" "" "" "0000325257" "00324068" "1" "03855" "03855" "2010-01-05 16:42:55" "" "" "SEQ" "DNA" "" "" "0000325258" "00324069" "1" "00085" "00085" "2009-11-30 14:52:10" "" "" "?" "?" "" "" "0000325259" "00324070" "1" "03704" "00085" "2008-04-09 08:42:06" "00085" "2013-04-24 16:58:41" "CSGE;PCR;SEQ" "DNA" "" "" "0000325260" "00324071" "1" "03704" "00085" "2008-04-09 08:55:33" "00085" "2012-07-10 13:32:18" "CSGE;PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000325261" "00324072" "1" "03704" "00085" "2012-05-01 09:25:39" "00085" "2014-06-26 15:28:07" "SEQ" "DNA" "" "" "0000325262" "00324073" "1" "01819" "01819" "2014-01-21 12:22:52" "00085" "2014-09-18 09:03:17" "PCR;SEQ" "DNA" "" "" "0000325263" "00324074" "1" "01819" "01819" "2014-01-21 12:43:18" "00085" "2014-09-17 14:27:54" "PCR;SEQ" "DNA" "" "" "0000325264" "00324075" "1" "00085" "00085" "2008-06-19 15:07:17" "00085" "2014-06-26 15:31:55" "SEQ" "DNA" "" "" "0000325265" "00324076" "1" "01819" "01819" "2014-01-21 12:44:55" "00085" "2014-09-17 14:30:14" "PCR;SEQ" "DNA" "" "" "0000325266" "00324077" "1" "00085" "00085" "2009-11-30 14:53:27" "" "" "?" "?" "" "" "0000325267" "00324078" "1" "01819" "01819" "2014-01-21 12:24:31" "00085" "2014-09-18 09:05:10" "PCR;SEQ" "DNA" "" "" "0000325268" "00324079" "1" "03855" "03855" "2010-01-05 16:00:05" "" "" "SEQ" "DNA" "" "" "0000325269" "00324080" "1" "00085" "00085" "2015-03-10 13:08:32" "00085" "2016-02-16 13:43:48" "PCR;SEQ;arraySEQ" "DNA" "" "" "0000325270" "00324081" "1" "00085" "00085" "2018-01-18 10:29:23" "" "" "SEQ-NG" "DNA" "" "" "0000325271" "00324082" "1" "00085" "00085" "2013-10-25 09:32:18" "00085" "2013-10-25 09:35:22" "PCR;SEQ" "DNA" "" "" "0000325272" "00324083" "1" "00085" "00085" "2009-11-30 14:55:16" "" "" "?" "?" "" "" "0000325273" "00324084" "1" "03861" "03861" "2011-05-03 11:22:26" "00085" "2013-03-20 14:08:39" "DHPLC;SEQ" "DNA" "" "" "0000325274" "00324085" "1" "01819" "01819" "2014-01-21 12:46:48" "00085" "2014-09-18 14:36:45" "PCR;SEQ" "DNA" "" "" "0000325275" "00324086" "1" "00085" "00085" "2016-06-13 10:35:24" "" "" "PCR;SEQ" "DNA" "" "" "0000325276" "00324087" "1" "00085" "00085" "2011-06-27 14:03:01" "" "" "PCR;SEQ" "DNA" "" "" "0000325277" "00324088" "1" "00085" "00085" "2008-05-02 09:48:26" "00085" "2013-04-24 16:51:06" "PCR;SEQ" "DNA" "" "" "0000328640" "00327428" "1" "00006" "00006" "2021-01-21 13:10:01" "" "" "SEQ;SEQ-NG" "DNA" "" "57-gene panel" "0000328651" "00327439" "1" "00006" "00006" "2021-01-21 13:10:01" "" "" "SEQ;SEQ-NG" "DNA" "" "57-gene panel" "0000328652" "00327440" "1" "00006" "00006" "2021-01-21 13:10:01" "" "" "SEQ;SEQ-NG" "DNA" "" "57-gene panel" "0000328653" "00327441" "1" "00006" "00006" "2021-01-21 13:10:01" "" "" "SEQ;SEQ-NG" "DNA" "" "57-gene panel" "0000328654" "00327442" "1" "00006" "00006" "2021-01-21 13:10:01" "" "" "SEQ;SEQ-NG" "DNA" "" "57-gene panel" "0000328655" "00327443" "1" "00006" "00006" "2021-01-21 13:10:01" "" "" "SEQ;SEQ-NG" "DNA" "" "57-gene panel" "0000328656" "00327444" "1" "00006" "00006" "2021-01-21 13:10:01" "" "" "SEQ;SEQ-NG" "DNA" "" "57-gene panel" "0000328657" "00327445" "1" "00006" "00006" "2021-01-21 13:10:01" "" "" "SEQ;SEQ-NG" "DNA" "" "57-gene panel" "0000328658" "00327446" "1" "00006" "00006" "2021-01-21 13:10:01" "" "" "SEQ;SEQ-NG" "DNA" "" "57-gene panel" "0000328667" "00327455" "1" "00006" "00006" "2021-01-21 13:10:01" "" "" "SEQ;SEQ-NG" "DNA" "" "57-gene panel" "0000332591" "00331372" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332592" "00331373" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332593" "00331374" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332594" "00331375" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332595" "00331376" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000360633" "00359391" "1" "01396" "01396" "2021-03-19 19:16:57" "" "" "SEQ-NG-I" "DNA" "" "" "0000360634" "00359392" "1" "01396" "01396" "2021-03-19 19:22:46" "" "" "SEQ-NG-I" "DNA" "" "" "0000360635" "00359393" "1" "01396" "01396" "2021-03-19 19:25:19" "" "" "SEQ-NG-I" "DNA" "" "" "0000360878" "00359648" "1" "00006" "00006" "2021-04-03 16:29:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000360880" "00359650" "1" "00006" "00006" "2021-04-03 16:29:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000360886" "00359656" "1" "00006" "00006" "2021-04-03 16:29:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000363121" "00361893" "1" "04046" "04046" "2021-04-12 01:48:45" "04046" "2021-04-12 02:02:22" "?" "DNA" "blood" "Fulgent OI and decreased bone density 32 gene panel" "0000398595" "00397355" "1" "00006" "00006" "2021-12-20 15:54:33" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000398603" "00397363" "1" "00006" "00006" "2021-12-20 15:54:33" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000398604" "00397364" "1" "00006" "00006" "2021-12-20 15:54:33" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000398606" "00397366" "1" "00006" "00006" "2021-12-20 15:54:33" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000398608" "00397368" "1" "00006" "00006" "2021-12-20 15:54:33" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000398612" "00397372" "1" "00006" "00006" "2021-12-20 15:54:33" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000398613" "00397373" "1" "00006" "00006" "2021-12-20 15:54:33" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000398615" "00397375" "1" "00006" "00006" "2021-12-20 15:54:33" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000398617" "00397377" "1" "00006" "00006" "2021-12-20 15:54:33" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000400534" "00399291" "1" "00006" "00006" "2022-01-18 21:51:29" "" "" "SEQ" "DNA" "" "" "0000400536" "00399293" "1" "00006" "00006" "2022-01-18 22:04:42" "" "" "SEQ" "DNA" "" "" "0000417714" "00416434" "1" "04298" "04298" "2022-08-30 15:00:10" "" "" "SEQ-NG" "DNA" "" "capture panel for sequencing 15 candidate OI genes and 19 candidate genes that are associated with bone fragility or Wnt signaling" "0000417715" "00416435" "1" "04298" "04298" "2022-08-30 15:02:53" "" "" "SEQ-NG" "DNA" "" "capture panel for sequencing 15 candidate OI genes and 19 candidate genes that are associated with bone fragility or Wnt signaling" "0000417716" "00416436" "1" "04298" "04298" "2022-08-30 15:13:14" "" "" "SEQ-NG" "DNA" "" "capture panel for sequencing 15 candidate OI genes and 19 candidate genes that are associated with bone fragility or Wnt signaling" "0000417717" "00416437" "1" "04298" "04298" "2022-08-30 15:17:37" "" "" "SEQ-NG" "DNA" "" "capture panel for sequencing 15 candidate OI genes and 19 candidate genes that are associated with bone fragility or Wnt signaling" "0000417718" "00416438" "1" "04298" "04298" "2022-08-30 15:34:25" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000417781" "00416499" "1" "03528" "03528" "2022-09-01 16:56:18" "" "" "SEQ-NG" "DNA" "" "" "0000418296" "00417016" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418301" "00417021" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418302" "00417022" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418314" "00417034" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418319" "00417039" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418323" "00417043" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418329" "00417049" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418338" "00417058" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418341" "00417061" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418343" "00417063" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418363" "00417083" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418365" "00417085" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418366" "00417086" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418367" "00417087" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418370" "00417090" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418383" "00417103" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418386" "00417106" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418399" "00417119" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418402" "00417122" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418404" "00417124" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418412" "00417132" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418415" "00417135" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418416" "00417136" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418422" "00417142" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418429" "00417149" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418430" "00417150" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418439" "00417159" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000425926" "00424613" "1" "02284" "02284" "2022-11-21 11:38:45" "02284" "2022-11-21 12:03:07" "SEQ;SEQ-NG-IT" "DNA" "" "marco.ritelli" "0000429245" "00427923" "1" "03820" "00006" "2022-12-17 10:17:17" "" "" "SEQ-NG" "DNA" "" "" "0000429246" "00427924" "1" "03820" "00006" "2022-12-17 10:17:17" "" "" "SEQ-NG" "DNA" "" "" "0000429247" "00427925" "1" "03820" "00006" "2022-12-17 10:17:17" "" "" "SEQ-NG" "DNA" "" "" "0000429248" "00427926" "1" "03820" "00006" "2022-12-17 10:17:17" "" "" "SEQ-NG" "DNA" "" "" "0000429249" "00427927" "1" "03820" "00006" "2022-12-17 10:17:17" "" "" "SEQ-NG" "DNA" "" "" "0000429250" "00427928" "1" "03820" "00006" "2022-12-17 10:17:17" "" "" "SEQ-NG" "DNA" "" "" "0000429251" "00427929" "1" "03820" "00006" "2022-12-17 10:17:17" "" "" "SEQ-NG" "DNA" "" "" "0000429252" "00427930" "1" "03820" "00006" "2022-12-17 10:17:17" "" "" "SEQ-NG" "DNA" "" "" "0000429253" "00427931" "1" "03820" "00006" "2022-12-17 10:17:17" "" "" "SEQ-NG" "DNA" "" "" "0000429254" "00427932" "1" "03820" "00006" "2022-12-17 10:17:17" "" "" "SEQ-NG" "DNA" "" "" "0000429255" "00427933" "1" "03820" "00006" "2022-12-17 10:17:17" "" "" "SEQ-NG" "DNA" "" "" "0000429256" "00427934" "1" "03820" "00006" "2022-12-17 10:17:17" "" "" "SEQ-NG" "DNA" "" "" "0000429257" "00427935" "1" "03820" "00006" "2022-12-17 10:17:17" "" "" "SEQ-NG" "DNA" "" "" "0000429258" "00427936" "1" "03820" "00006" "2022-12-17 10:17:17" "" "" "SEQ-NG" "DNA" "" "" "0000429259" "00427937" "1" "03820" "00006" "2022-12-17 10:17:17" "" "" "SEQ-NG" "DNA" "" "" "0000429260" "00427938" "1" "03820" "00006" "2022-12-17 10:17:17" "" "" "SEQ-NG" "DNA" "" "" "0000429261" "00427939" "1" "03820" "00006" "2022-12-17 10:17:17" "" "" "SEQ-NG" "DNA" "" "" "0000429262" "00427940" "1" "03820" "00006" "2022-12-17 10:17:17" "" "" "SEQ-NG" "DNA" "" "" "0000429263" "00427941" "1" "03820" "00006" "2022-12-17 10:17:17" "" "" "SEQ-NG" "DNA" "" "" "0000429264" "00427942" "1" "03820" "00006" "2022-12-17 10:17:17" "" "" "SEQ-NG" "DNA" "" "" "0000429265" "00427943" "1" "03820" "00006" "2022-12-17 10:17:17" "" "" "SEQ-NG" "DNA" "" "" "0000429266" "00427944" "1" "03820" "00006" "2022-12-17 10:17:17" "" "" "SEQ-NG" "DNA" "" "" "0000429267" "00427945" "1" "03820" "00006" "2022-12-17 10:17:17" "" "" "SEQ-NG" "DNA" "" "" "0000429268" "00427946" "1" "03820" "00006" "2022-12-17 10:17:17" "" "" "SEQ-NG" "DNA" "" "" "0000429269" "00427947" "1" "03820" "00006" "2022-12-17 10:17:17" "" "" "SEQ-NG" "DNA" "" "" "0000429270" "00427948" "1" "03820" "00006" "2022-12-17 10:17:17" "" "" "SEQ-NG" "DNA" "" "" "0000429271" "00427949" "1" "03820" "00006" "2022-12-17 10:17:17" "" "" "SEQ-NG" "DNA" "" "" "0000429272" "00427950" "1" "03820" "00006" "2022-12-17 10:17:17" "" "" "SEQ-NG" "DNA" "" "" "0000429273" "00427951" "1" "03820" "00006" "2022-12-17 10:17:17" "" "" "SEQ-NG" "DNA" "" "" "0000429274" "00427952" "1" "03820" "00006" "2022-12-17 10:17:17" "" "" "SEQ-NG" "DNA" "" "" "0000429275" "00427953" "1" "03820" "00006" "2022-12-17 10:17:17" "" "" "SEQ-NG" "DNA" "" "" "0000429461" "00428048" "1" "04419" "04419" "2022-12-20 02:31:42" "" "" "SEQ" "DNA" "Peripheral blood" "" "0000432566" "00431155" "1" "04305" "04305" "2023-01-30 21:50:34" "" "" "SEQ-NG-I" "DNA" "Leukocyte DNA" "" "0000432567" "00431156" "1" "04305" "04305" "2023-01-30 22:03:05" "" "" "SEQ-NG-I" "DNA" "Leukocyte DNA" "" "0000432568" "00431157" "1" "04305" "04305" "2023-01-30 22:09:16" "" "" "SEQ-NG-I" "DNA" "Leukocyte DNA" "" "0000432569" "00431158" "1" "04305" "04305" "2023-01-30 22:14:50" "" "" "SEQ-NG-I" "DNA" "Leukocyte DNA" "" "0000432570" "00431159" "1" "04305" "04305" "2023-01-30 22:21:07" "" "" "SEQ-NG-I" "DNA" "Leukocyte DNA" "" "0000432571" "00431160" "1" "04305" "04305" "2023-01-30 22:26:55" "" "" "SEQ-NG-I" "DNA" "Leukocyte DNA" "" "0000432769" "00431355" "1" "04465" "04465" "2023-02-09 13:53:56" "" "" "SEQ-NG" "DNA" "peripheral blood" "whole exome sequencing (WES)" "0000432770" "00431357" "1" "04465" "04465" "2023-02-09 16:09:54" "" "" "SEQ-NG" "DNA" "peripheral blood leukocytes" "Whole exome sequencing (WES)" "0000432772" "00431359" "1" "00006" "00006" "2023-02-09 17:52:10" "" "" "SEQ" "DNA" "" "" "0000433208" "00431775" "1" "04465" "04465" "2023-02-16 10:44:35" "" "" "SEQ-NG" "DNA" "blood" "whole exome sequencing (WES)" "0000433210" "00431777" "1" "04465" "04465" "2023-02-16 10:57:10" "" "" "SEQ-NG" "DNA" "blood" "Exome sequencing analysis" "0000433216" "00431778" "1" "04465" "04465" "2023-02-16 13:19:55" "" "" "?" "DNA" "" "" "0000433228" "00431789" "1" "04136" "00006" "2023-02-16 14:19:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000433242" "00431803" "1" "04136" "00006" "2023-02-16 14:19:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000433246" "00431807" "1" "04136" "00006" "2023-02-16 14:19:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000433253" "00431814" "1" "04136" "00006" "2023-02-16 14:19:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000433255" "00431816" "1" "04136" "00006" "2023-02-16 14:19:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000433652" "00432212" "1" "04465" "04465" "2023-02-20 13:43:51" "" "" "SEQ-NG" "DNA" "umbilical cord" "Whole Exome Sequencing (WES)" "0000433653" "00432213" "1" "04465" "04465" "2023-02-20 13:46:51" "" "" "SEQ-NG" "DNA" "umbilical cord" "Whole Exome Sequecing (WES)" "0000433654" "00432214" "1" "04465" "04465" "2023-02-20 13:52:32" "" "" "SEQ-NG" "DNA" "umbilical cord" "Whole Exome Sequencing" "0000433655" "00432215" "1" "04465" "04465" "2023-02-20 13:56:59" "" "" "SEQ-NG" "DNA" "amniotic fluid" "Whole Exome Sequencing (WES)" "0000433656" "00432216" "1" "04465" "04465" "2023-02-20 14:00:00" "" "" "SEQ-NG" "DNA" "umbilical cord" "Whole Exome Secuencing (WES)" "0000433672" "00432232" "1" "04465" "04465" "2023-02-20 15:56:37" "" "" "SEQ-NG" "DNA" "whole venous blood" "" "0000433673" "00432233" "1" "04465" "04465" "2023-02-20 15:59:50" "" "" "SEQ-NG" "DNA" "whole venous blood" "" "0000433674" "00432234" "1" "04465" "04465" "2023-02-20 16:02:50" "" "" "SEQ-NG" "DNA" "whole venous blood" "" "0000433675" "00432235" "1" "04465" "04465" "2023-02-20 16:06:16" "" "" "SEQ-NG" "DNA" "whole venous blood" "" "0000433676" "00432236" "1" "04465" "04465" "2023-02-20 16:19:45" "" "" "SEQ-NG" "DNA" "whole venous blood" "" "0000433677" "00432238" "1" "04465" "04465" "2023-02-20 16:22:28" "" "" "SEQ-NG" "DNA" "whole venous blood" "" "0000433679" "00432239" "1" "04465" "04465" "2023-02-20 16:26:48" "" "" "SEQ-NG" "DNA" "whole venous blood" "" "0000433680" "00432240" "1" "04465" "04465" "2023-02-20 16:43:05" "" "" "SEQ-NG" "DNA" "whole venous blood" "" "0000433681" "00432241" "1" "04465" "04465" "2023-02-20 16:46:52" "" "" "SEQ-NG" "DNA" "whole venous blood" "" "0000433682" "00432242" "1" "04465" "04465" "2023-02-20 16:49:38" "" "" "SEQ-NG" "DNA" "whole venous blood" "" "0000433916" "00432474" "1" "04465" "04465" "2023-02-23 10:14:23" "" "" "SEQ-NG" "DNA" "Whole venous blood" "" "0000433918" "00432476" "1" "04465" "04465" "2023-02-23 10:17:33" "" "" "SEQ-NG" "DNA" "whole venous blood" "" "0000433927" "00432485" "1" "04465" "04465" "2023-02-23 11:44:19" "" "" "SEQ-NG" "DNA" "whole venous blood" "" "0000435138" "00433680" "1" "04465" "04465" "2023-03-13 09:55:50" "" "" "SEQ-NG" "DNA" "umbilical cord, skin tissue" "Whole Exome Sequencing (WES)" "0000435589" "00434122" "1" "04465" "04465" "2023-03-20 14:06:37" "" "" "SEQ-NG" "DNA" "whole venous blood" "" "0000435590" "00434123" "1" "04465" "04465" "2023-03-20 14:14:08" "" "" "SEQ-NG" "DNA" "whole venous blood" "" "0000435592" "00434125" "1" "04465" "04465" "2023-03-20 14:32:23" "" "" "SEQ-NG" "DNA" "whole venous blood" "" "0000435593" "00434126" "1" "04465" "04465" "2023-03-20 14:35:21" "" "" "SEQ-NG" "DNA" "whole venous blood" "" "0000436484" "00435011" "1" "04465" "04465" "2023-04-19 16:34:13" "" "" "SEQ-NG" "DNA" "" "" "0000436485" "00435012" "1" "04465" "04465" "2023-04-19 16:37:48" "" "" "SEQ-NG" "DNA" "" "" "0000436562" "00435090" "1" "04419" "04419" "2023-05-07 22:05:28" "" "" "SEQ-NG" "DNA" "Peripheral blood" "" "0000436628" "00431210" "1" "04298" "04298" "2023-05-31 09:13:43" "" "" "SEQ-NG" "DNA" "blood" "" "0000436629" "00435157" "1" "04298" "04298" "2023-05-31 09:23:42" "" "" "SEQ-NG" "DNA" "blood" "" "0000436630" "00435158" "1" "04298" "04298" "2023-05-31 09:29:21" "" "" "SEQ-NG" "DNA" "blood" "" "0000436631" "00416439" "1" "04298" "04298" "2023-05-31 09:31:08" "" "" "SEQ-NG" "DNA" "blood" "" "0000450111" "00448527" "1" "02284" "02284" "2024-03-27 15:33:45" "" "" "PCR;SEQ;SEQ-NG-IT" "DNA" "blood" "" "0000455358" "00453746" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000455359" "00453747" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000455360" "00453748" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000455361" "00453749" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000455362" "00453750" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000455363" "00453751" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000462606" "00460974" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "fibroblasts" "mRNA splicing analysis on tissue" "0000467276" "00465628" "1" "04854" "04854" "2025-06-01 23:39:19" "" "" "SEQ-NG-I" "DNA" "blood" "genomic DNA" "0000468430" "00466766" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468431" "00466767" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468432" "00466768" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468433" "00466769" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468434" "00466770" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468435" "00466771" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468436" "00466772" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468437" "00466773" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468438" "00466774" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468439" "00466775" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468440" "00466776" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468441" "00466777" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468442" "00466778" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468443" "00466779" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468444" "00466780" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468445" "00466781" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468446" "00466782" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468447" "00466783" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468448" "00466784" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468449" "00466785" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468450" "00466786" "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 = 1374 "{{screeningid}}" "{{geneid}}" "0000081033" "COL1A2" "0000106389" "COL1A2" "0000132715" "COL1A2" "0000132900" "COL1A1" "0000132900" "COL1A2" "0000132901" "COL1A1" "0000132901" "COL1A2" "0000132902" "COL1A1" "0000132902" "COL1A2" "0000133608" "COL1A2" "0000266852" "COL1A2" "0000266855" "COL1A2" "0000266856" "COL1A2" "0000266861" "COL1A2" "0000266862" "COL1A2" "0000266863" "COL1A2" "0000266864" "COL1A2" "0000301054" "COL1A2" "0000301055" "COL1A2" "0000301077" "COL1A2" "0000301078" "COL1A2" "0000301079" "COL1A2" "0000301080" "COL1A2" "0000301081" "COL1A2" "0000301082" "COL1A2" "0000301083" "COL1A2" "0000301084" "COL1A2" "0000301085" "COL1A2" "0000301086" "COL1A2" "0000301087" "COL1A2" "0000301088" "COL1A2" "0000301089" "COL1A2" "0000301090" "COL1A2" "0000301091" 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"0000325018" "COL1A2" "0000325019" "COL1A2" "0000325020" "COL1A2" "0000325021" "COL1A2" "0000325022" "COL1A2" "0000325023" "COL1A2" "0000325024" "COL1A2" "0000325025" "COL1A2" "0000325026" "COL1A2" "0000325027" "COL1A2" "0000325028" "COL1A2" "0000325029" "COL1A2" "0000325030" "COL1A2" "0000325031" "COL1A2" "0000325032" "COL1A2" "0000325033" "COL1A2" "0000325034" "COL1A2" "0000325035" "COL1A2" "0000325036" "COL1A2" "0000325037" "COL1A2" "0000325038" "COL1A2" "0000325039" "COL1A2" "0000325040" "COL1A2" "0000325041" "COL1A2" "0000325042" "COL1A2" "0000325043" "COL1A2" "0000325044" "COL1A2" "0000325045" "COL1A2" "0000325046" "COL1A2" "0000325047" "COL1A2" "0000325048" "COL1A2" "0000325049" "COL1A2" "0000325050" "COL1A2" "0000325051" "COL1A2" "0000325052" "COL1A2" "0000325053" "COL1A2" "0000325054" "COL1A2" "0000325055" "COL1A2" "0000325056" "COL1A2" "0000325057" "COL1A2" "0000325058" "COL1A2" "0000325059" "COL1A2" "0000325060" "COL1A2" "0000325061" "COL1A2" "0000325062" "COL1A2" "0000325063" "COL1A2" "0000325064" "COL1A2" "0000325065" "COL1A2" "0000325066" "COL1A2" "0000325067" "COL1A2" "0000325068" "COL1A2" "0000325069" "COL1A2" "0000325070" "COL1A2" "0000325071" "COL1A2" "0000325072" "COL1A2" "0000325073" "COL1A2" "0000325074" "COL1A2" "0000325075" "COL1A2" "0000325076" "COL1A2" "0000325077" "COL1A2" "0000325078" "COL1A2" "0000325079" "COL1A2" "0000325080" "COL1A2" "0000325081" "COL1A2" "0000325082" "COL1A2" "0000325083" "COL1A2" "0000325084" "COL1A2" "0000325085" "COL1A2" "0000325086" "COL1A2" "0000325087" "COL1A2" "0000325088" "COL1A2" "0000325089" "COL1A2" "0000325090" "COL1A2" "0000325091" "COL1A2" "0000325092" "COL1A2" "0000325093" "COL1A2" "0000325094" "COL1A2" "0000325095" "COL1A2" "0000325096" "COL1A2" "0000325097" "COL1A2" "0000325098" "COL1A2" "0000325099" "COL1A2" "0000325100" "COL1A2" "0000325101" "COL1A2" "0000325102" "COL1A2" "0000325103" "COL1A2" "0000325104" "COL1A2" "0000325105" "COL1A2" "0000325106" "COL1A2" "0000325107" "COL1A2" "0000325108" "COL1A2" "0000325109" "COL1A2" "0000325110" "COL1A2" "0000325111" "COL1A2" "0000325112" "COL1A2" "0000325113" "COL1A2" "0000325114" "COL1A2" "0000325115" "COL1A2" "0000325116" "COL1A2" "0000325117" "COL1A2" "0000325118" "COL1A2" "0000325119" "COL1A2" "0000325120" "COL1A2" "0000325121" "COL1A2" "0000325122" "COL1A2" "0000325123" "COL1A2" "0000325124" "COL1A2" "0000325125" "COL1A2" "0000325126" "COL1A2" "0000325127" "COL1A2" "0000325128" "COL1A2" "0000325129" "COL1A2" "0000325130" "COL1A2" "0000325131" "COL1A2" "0000325132" "COL1A2" "0000325133" "COL1A2" "0000325134" "COL1A2" "0000325135" "COL1A2" "0000325136" "COL1A2" "0000325137" "COL1A2" "0000325138" "COL1A2" "0000325139" "COL1A2" "0000325140" "COL1A2" "0000325141" "COL1A2" "0000325142" "COL1A2" "0000325143" "COL1A2" "0000325144" "COL1A2" "0000325145" "COL1A2" "0000325146" "COL1A2" "0000325147" "COL1A2" "0000325148" "COL1A2" "0000325149" "COL1A2" "0000325150" "COL1A2" "0000325151" "COL1A2" "0000325152" "COL1A2" "0000325153" "COL1A2" "0000325154" "COL1A2" "0000325155" "COL1A2" "0000325156" "COL1A2" "0000325157" "COL1A2" "0000325158" "COL1A2" "0000325159" "COL1A2" "0000325160" "COL1A2" "0000325161" "COL1A2" "0000325162" "COL1A2" "0000325163" "COL1A2" "0000325164" "COL1A2" "0000325165" "COL1A2" "0000325166" "COL1A2" "0000325167" "COL1A2" "0000325168" "COL1A2" "0000325169" "COL1A2" "0000325170" "COL1A2" "0000325171" "COL1A2" "0000325172" "COL1A2" "0000325173" "COL1A2" "0000325174" "COL1A2" "0000325175" "COL1A2" "0000325176" "COL1A2" "0000325177" "COL1A2" "0000325178" "COL1A2" "0000325179" "COL1A2" "0000325180" "COL1A2" "0000325181" "COL1A2" "0000325182" "COL1A2" "0000325183" "COL1A2" "0000325184" "COL1A2" "0000325185" "COL1A2" "0000325186" "COL1A2" "0000325187" "COL1A2" "0000325188" "COL1A2" "0000325189" "COL1A2" "0000325190" "COL1A2" "0000325191" "COL1A2" "0000325192" "COL1A2" "0000325193" "COL1A2" "0000325194" "COL1A2" "0000325195" "COL1A2" "0000325196" "COL1A2" "0000325197" "COL1A2" "0000325198" "COL1A2" "0000325199" "COL1A2" "0000325200" "COL1A2" "0000325201" "COL1A2" "0000325202" "COL1A2" "0000325203" "COL1A2" "0000325204" "COL1A2" "0000325205" "COL1A2" "0000325206" "COL1A2" "0000325207" "COL1A2" "0000325208" "COL1A2" "0000325209" "COL1A2" "0000325210" "COL1A2" "0000325211" "COL1A2" "0000325212" "COL1A2" "0000325213" "COL1A2" "0000325214" "COL1A2" "0000325215" "COL1A2" "0000325216" "COL1A2" "0000325217" "COL1A2" "0000325218" "COL1A2" "0000325219" "COL1A2" "0000325220" "COL1A2" "0000325221" "COL1A2" "0000325222" "COL1A2" "0000325223" "COL1A2" "0000325224" "COL1A2" "0000325225" "COL1A2" "0000325226" "COL1A2" "0000325227" "COL1A2" "0000325228" "COL1A2" "0000325229" "COL1A2" "0000325230" "COL1A2" "0000325231" "COL1A2" "0000325232" "COL1A2" "0000325233" "COL1A2" "0000325234" "COL1A2" "0000325235" "COL1A2" "0000325236" "COL1A2" "0000325237" "COL1A2" "0000325238" "COL1A2" "0000325239" "COL1A2" "0000325240" "COL1A2" "0000325241" "COL1A2" "0000325242" "COL1A2" "0000325243" "COL1A2" "0000325244" "COL1A2" "0000325245" "COL1A2" "0000325246" "COL1A2" "0000325247" "COL1A2" "0000325248" "COL1A2" "0000325249" "COL1A2" "0000325250" "COL1A2" "0000325251" "COL1A2" "0000325252" "COL1A2" "0000325253" "COL1A2" "0000325254" "COL1A2" "0000325255" "COL1A2" "0000325256" "COL1A2" "0000325257" "COL1A2" "0000325258" "COL1A2" "0000325259" "COL1A2" "0000325260" "COL1A2" "0000325261" "COL1A2" "0000325262" "COL1A2" "0000325263" "COL1A2" "0000325264" "COL1A2" "0000325265" "COL1A2" "0000325266" "COL1A2" "0000325267" "COL1A2" "0000325268" "COL1A2" "0000325269" "COL1A2" "0000325270" "COL1A2" "0000325271" "COL1A2" "0000325272" "COL1A2" "0000325273" "COL1A2" "0000325274" "COL1A2" "0000325275" "COL1A2" "0000325276" "COL1A2" "0000325277" "COL1A2" "0000328640" "COL1A1" "0000328651" "COL1A2" "0000328652" "COL1A2" "0000328653" "COL1A2" "0000328654" "COL1A2" "0000328655" "COL1A2" "0000328656" "COL1A2" "0000328657" "COL1A2" "0000328658" "COL1A2" "0000328667" "TMEM38B" "0000332591" "COL1A2" "0000332592" "COL1A2" "0000332593" "COL1A2" "0000332594" "COL1A2" "0000332595" "COL1A2" "0000360633" "COL1A1" "0000360633" "COL1A2" "0000360634" "COL1A1" "0000360634" "COL1A2" "0000360635" "COL1A1" "0000360635" "COL1A2" "0000360878" "COL1A2" "0000360880" "COL1A2" "0000360886" "COL1A2" "0000363121" "COL1A1" "0000363121" "COL1A2" "0000400534" "COL1A2" "0000400536" "COL1A2" "0000417781" "COL1A2" "0000425926" "COL1A2" "0000429461" "COL1A2" "0000432566" "COL1A2" "0000432567" "COL1A2" "0000432568" "COL1A2" "0000432569" "COL1A2" "0000432570" "COL1A2" "0000432571" "COL1A2" "0000432571" "COL6A3" "0000432571" "NOTCH1" "0000432772" "COL1A2" "0000436562" "COL1A1" "0000436562" "COL1A2" "0000450111" "COL1A2" "0000462606" "COL1A2" "0000467276" "COL1A2" ## 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 = 1852 "{{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}}" "0000130119" "0" "90" "7" "94049925" "94049925" "subst" "0" "01758" "COL1A2_000182" "g.94049925G>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "De novo" "" "" "0" "" "" "g.94420613G>T" "" "pathogenic" "ACMG" "0000169340" "0" "70" "7" "94035577" "94035577" "subst" "0" "00587" "COL1A2_000830" "g.94035577G>T" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_000089.3(COL1A2):c.556G>T p.(Asp186Tyr)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.94406265G>T" "" "likely pathogenic" "" "0000171993" "11" "30" "7" "94044588" "94044588" "subst" "0" "00006" "COL1A2_000630" "g.94044588T>C" "" "{PMID:Lindert 2016:27380894}, {DOI:Lindert 2016:10.1038/ncomms11920}" "" "IVS30+6T>C" "The COL1A2 variant in this family does not have any effect on splicing." "Germline" "" "" "0" "" "" "g.94415276T>C" "" "likely benign" "" "0000221899" "0" "99" "7" "94034557" "94034557" "subst" "0" "01741" "COL1A2_000829" "g.94034557G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94405245G>A" "" "pathogenic" "" "0000222082" "0" "79" "7" "94054474" "94054474" "subst" "0" "01396" "COL1A2_000861" "g.94054474G>C" "" "" "" "" "not in 92 control chromosomes tested" "Germline/De novo (untested)" "" "" "0" "" "" "g.94425162G>C" "" "likely pathogenic" "" "0000222083" "0" "79" "7" "94049581" "94049582" "ins" "0" "01396" "COL1A2_000851" "g.94049581_94049582insCTCCTGCTG" "" "" "" "" "not in 102 control chromosomes tested" "Germline/De novo (untested)" "" "" "0" "" "" "g.94420269_94420270insCTCCTGCTG" "" "likely pathogenic" "" "0000222084" "0" "79" "7" "94039600" "94039600" "subst" "0" "01396" "COL1A2_000839" "g.94039600G>A" "" "{PMID:Silveira 2021:34529350}, {DOI:Silveira 2021:10.1002/ajmg.c.31937}" "" "" "CMG PP4, PM2, PM5, PP3, PP2, PM6" "De novo" "" "" "0" "" "" "g.94410288G>A" "" "likely pathogenic (dominant)" "" "0000222849" "0" "99" "7" "94038634" "94038634" "subst" "0" "01741" "COL1A2_000835" "g.94038634G>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94409322G>T" "" "pathogenic" "" "0000248332" "0" "10" "7" "94043274" "94043274" "subst" "0.274368" "02325" "COL1A2_000845" "g.94043274A>G" "" "" "" "COL1A2(NM_000089.4):c.1665+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94413962A>G" "" "benign" "" "0000250067" "0" "10" "7" "94043274" "94043274" "subst" "0.274368" "02329" "COL1A2_000845" "g.94043274A>G" "" "" "" "COL1A2(NM_000089.4):c.1665+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94413962A>G" "" "benign" "" "0000250107" "0" "10" "7" "94041937" "94041937" "subst" "0.339081" "02329" "COL1A2_000311" "g.94041937A>C" "" "" "" "COL1A2(NM_000089.4):c.1446A>C (p.P482=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94412625A>C" "" "benign" "" "0000250218" "0" "10" "7" "94027682" "94027682" "subst" "0.00395786" "02329" "COL1A2_000820" "g.94027682A>G" "" "" "" "COL1A2(NM_000089.4):c.82-12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94398370A>G" "" "benign" "" "0000250219" "0" "10" "7" "94040477" "94040477" "subst" "0.000788387" "02329" "COL1A2_000844" "g.94040477A>T" "" "" "" "COL1A2(NM_000089.4):c.1350+11A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94411165A>T" "" "benign" "" "0000250442" "0" "30" "7" "94037222" "94037222" "subst" "0.000150896" "02329" "COL1A2_000832" "g.94037222A>T" "" "" "" "COL1A2(NM_000089.4):c.639+19A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94407910A>T" "" "likely benign" "" "0000255247" "0" "30" "7" "94030869" "94030869" "subst" "0" "01943" "COL1A2_000825" "g.94030869A>T" "" "" "" "COL1A2(NM_000089.3):c.226-10A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94401557A>T" "" "likely benign" "" "0000266929" "0" "10" "7" "94040361" "94040361" "del" "0" "02325" "COL1A2_000843" "g.94040361del" "" "" "" "COL1A2(NM_000089.3):c.1252-7delT, COL1A2(NM_000089.3):c.1252-7delT (p.?), COL1A2(NM_000089.4):c.1252-7delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94411049del" "" "benign" "" "0000266930" "0" "10" "7" "94043239" "94043239" "subst" "0.771791" "02325" "COL1A2_000312" "g.94043239C>G" "" "" "" "COL1A2(NM_000089.4):c.1645C>G (p.P549A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94413927C>G" "" "benign" "" "0000266931" "0" "10" "7" "94056349" "94056349" "subst" "0.122429" "02325" "COL1A2_000316" "g.94056349C>T" "" "" "" "COL1A2(NM_000089.4):c.3135C>T (p.G1045=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94427037C>T" "" "benign" "" "0000266932" "0" "10" "7" "94038934" "94038934" "subst" "0.781776" "02325" "COL1A2_000836" "g.94038934C>T" "" "" "" "COL1A2(NM_000089.4):c.936+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94409622C>T" "" "benign" "" "0000268284" "0" "30" "7" "94039540" "94039540" "subst" "0.000857284" "02329" "COL1A2_000838" "g.94039540G>A" "" "" "" "COL1A2(NM_000089.4):c.1036-14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94410228G>A" "" "likely benign" "" "0000268285" "0" "30" "7" "94039607" "94039607" "subst" "8.1248E-6" "02329" "COL1A2_000840" "g.94039607C>G" "" "" "" "COL1A2(NM_000089.3):c.1089C>G (p.P363=), COL1A2(NM_000089.4):c.1089C>G (p.P363=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94410295C>G" "" "likely benign" "" "0000268286" "0" "30" "7" "94039716" "94039716" "subst" "0" "02329" "COL1A2_000841" "g.94039716T>C" "" "" "" "COL1A2(NM_000089.4):c.1090-16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94410404T>C" "" "likely benign" "" "0000268287" "0" "90" "7" "94039813" "94039813" "subst" "0" "02329" "COL1A2_000041" "g.94039813G>A" "" "" "" "COL1A2(NM_000089.4):c.1171G>A (p.G391S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94410501G>A" "" "pathogenic" "" "0000268288" "0" "70" "7" "94039844" "94039844" "subst" "0" "02329" "COL1A2_000257" "g.94039844G>C" "" "" "" "COL1A2(NM_000089.4):c.1197+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94410532G>C" "" "likely pathogenic" "" "0000268289" "0" "10" "7" "94043239" "94043239" "subst" "0.771791" "02329" "COL1A2_000312" "g.94043239C>G" "" "" "" "COL1A2(NM_000089.4):c.1645C>G (p.P549A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94413927C>G" "" "benign" "" "0000268290" "0" "30" "7" "94029555" "94029555" "subst" "0" "02329" "COL1A2_000821" "g.94029555C>A" "" "" "" "COL1A2(NM_000089.4):c.180C>A (p.G60=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94400243C>A" "" "likely benign" "" "0000268291" "0" "10" "7" "94047050" "94047050" "subst" "0.0511339" "02329" "COL1A2_000313" "g.94047050G>T" "" "" "" "COL1A2(NM_000089.4):c.1878G>T (p.V626=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94417738G>T" "" "benign" "" "0000268292" "0" "30" "7" "94047158" "94047158" "subst" "0" "02329" "COL1A2_000850" "g.94047158C>A" "" "" "" "COL1A2(NM_000089.4):c.1971+15C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94417846C>A" "" "likely benign" "" "0000268293" "0" "10" "7" "94048862" "94048862" "subst" "0.00208806" "02329" "COL1A2_000359" "g.94048862G>A" "" "" "" "COL1A2(NM_000089.3):c.2078G>A (p.R693Q), COL1A2(NM_000089.4):c.2078G>A (p.(Arg693Gln), p.R693Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94419550G>A" "" "benign" "" "0000268294" "0" "30" "7" "94049588" "94049588" "subst" "0.000678851" "02329" "COL1A2_000178" "g.94049588G>A" "" "" "" "COL1A2(NM_000089.3):c.2123G>A (p.R708Q, p.(Arg708Gln)), COL1A2(NM_000089.4):c.2123G>A (p.R708Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94420276G>A" "" "likely benign" "" "0000268295" "0" "30" "7" "94049939" "94049939" "subst" "7.05891E-5" "02329" "COL1A2_000852" "g.94049939C>T" "" "" "" "COL1A2(NM_000089.4):c.2274C>T (p.P758=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94420627C>T" "" "likely benign" "" "0000268296" "0" "30" "7" "94050345" "94050345" "subst" "0" "02329" "COL1A2_000853" "g.94050345G>T" "" "" "" "COL1A2(NM_000089.4):c.2320G>T (p.A774S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94421033G>T" "" "likely benign" "" "0000268297" "0" "30" "7" "94052290" "94052290" "subst" "0.000211181" "02329" "COL1A2_000855" "g.94052290C>T" "" "" "" "COL1A2(NM_000089.3):c.2425C>T (p.P809S, p.(Pro809Ser)), COL1A2(NM_000089.4):c.2425C>T (p.P809S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94422978C>T" "" "likely benign" "" "0000268298" "0" "10" "7" "94030899" "94030899" "subst" "0.162822" "02329" "COL1A2_000309" "g.94030899T>C" "" "" "" "COL1A2(NM_000089.4):c.246T>C (p.D82=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94401587T>C" "" "benign" "" "0000268299" "0" "30" "7" "94054509" "94054509" "subst" "5.68948E-5" "02329" "COL1A2_000862" "g.94054509C>T" "" "" "" "COL1A2(NM_000089.3):c.2754C>T (p.N918=), COL1A2(NM_000089.4):c.2754C>T (p.N918=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94425197C>T" "" "likely benign" "" "0000268300" "0" "10" "7" "94056349" "94056349" "subst" "0.122429" "02329" "COL1A2_000316" "g.94056349C>T" "" "" "" "COL1A2(NM_000089.4):c.3135C>T (p.G1045=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94427037C>T" "" "benign" "" "0000268301" "0" "70" "7" "94056373" "94056373" "subst" "0" "02329" "COL1A2_000864" "g.94056373G>A" "" "" "" "COL1A2(NM_000089.4):c.3159G>A (p.R1053=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94427061G>A" "" "likely pathogenic" "" "0000268302" "0" "30" "7" "94056601" "94056601" "subst" "0" "02329" "COL1A2_000866" "g.94056601C>A" "" "" "" "COL1A2(NM_000089.4):c.3261C>A (p.G1087=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94427289C>A" "" "likely benign" "" "0000268303" "0" "30" "7" "94056930" "94056930" "subst" "3.25209E-5" "02329" "COL1A2_000867" "g.94056930C>T" "" "" "" "COL1A2(NM_000089.3):c.3268-9C>T, COL1A2(NM_000089.4):c.3268-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94427618C>T" "" "likely benign" "" "0000268304" "0" "10" "7" "94057007" "94057007" "subst" "0.000943105" "02329" "COL1A2_000370" "g.94057007C>T" "" "" "" "COL1A2(NM_000089.4):c.3336C>T (p.Y1112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94427695C>T" "" "benign" "" "0000268305" "0" "50" "7" "94057632" "94057632" "subst" "2.03196E-5" "02329" "COL1A2_000695" "g.94057632G>A" "" "" "" "COL1A2(NM_000089.4):c.3554G>A (p.G1185E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94428320G>A" "" "VUS" "" "0000268306" "0" "10" "7" "94058487" "94058487" "subst" "0.00810189" "02329" "COL1A2_000696" "g.94058487C>T" "" "" "" "COL1A2(NM_000089.4):c.3712-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94429175C>T" "" "benign" "" "0000268307" "0" "30" "7" "94058658" "94058658" "subst" "3.25407E-5" "02329" "COL1A2_000697" "g.94058658C>T" "" "" "" "COL1A2(NM_000089.4):c.3870C>T (p.V1290=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94429346C>T" "" "likely benign" "" "0000268308" "0" "90" "7" "94035589" "94035589" "subst" "0" "02329" "COL1A2_000831" "g.94035589G>A" "" "" "" "COL1A2(NM_000089.4):c.568G>A (p.G190R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94406277G>A" "" "pathogenic" "" "0000268309" "0" "90" "7" "94037554" "94037554" "subst" "0" "02329" "COL1A2_000833" "g.94037554T>G" "" "" "" "COL1A2(NM_000089.4):c.693+6T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94408242T>G" "" "pathogenic" "" "0000268310" "0" "10" "7" "94027053" "94027053" "dup" "0" "02329" "COL1A2_000816" "g.94027053dup" "" "" "" "COL1A2(NM_000089.4):c.71-7dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94397741dup" "" "benign" "" "0000268313" "0" "10" "7" "94038649" "94038649" "subst" "0.00124667" "02329" "COL1A2_000348" "g.94038649G>A" "" "" "" "COL1A2(NM_000089.3):c.808G>A (p.V270I, p.(Val270Ile)), COL1A2(NM_000089.4):c.808G>A (p.V270I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94409337G>A" "" "benign" "" "0000268314" "0" "30" "7" "94027081" "94027081" "del" "0.000370141" "02329" "COL1A2_000818" "g.94027081del" "" "" "" "COL1A2(NM_000089.4):c.81+11delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94397769del" "" "likely benign" "" "0000268315" "0" "30" "7" "94027085" "94027085" "subst" "2.60017E-5" "02329" "COL1A2_000819" "g.94027085T>C" "" "" "" "COL1A2(NM_000089.3):c.81+15T>C, COL1A2(NM_000089.4):c.81+15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94397773T>C" "" "likely benign" "" "0000268316" "0" "90" "7" "94038679" "94038679" "subst" "8.12137E-6" "02329" "COL1A2_000017" "g.94038679G>A" "" "" "" "COL1A2(NM_000089.4):c.838G>A (p.G280S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94409367G>A" "" "pathogenic" "" "0000268317" "0" "10" "7" "94027699" "94027699" "subst" "0.0578492" "02329" "COL1A2_000308" "g.94027699T>C" "" "" "" "COL1A2(NM_000089.4):c.87T>C (p.T29=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94398387T>C" "" "benign" "" "0000268318" "0" "10" "7" "94038934" "94038934" "subst" "0.781776" "02329" "COL1A2_000836" "g.94038934C>T" "" "" "" "COL1A2(NM_000089.4):c.936+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94409622C>T" "" "benign" "" "0000268319" "0" "90" "7" "94039053" "94039053" "subst" "0" "02329" "COL1A2_000148" "g.94039053G>A" "" "" "" "COL1A2(NM_000089.4):c.955G>A (p.G319R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94409741G>A" "" "pathogenic" "" "0000268320" "0" "30" "7" "94039067" "94039067" "subst" "0" "02329" "COL1A2_000837" "g.94039067C>T" "" "" "" "COL1A2(NM_000089.4):c.969C>T (p.L323=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94409755C>T" "" "likely benign" "" "0000268321" "0" "90" "7" "94039080" "94039080" "subst" "0" "02329" "COL1A2_000025" "g.94039080G>A" "" "" "" "COL1A2(NM_000089.4):c.982G>A (p.G328S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94409768G>A" "" "pathogenic" "" "0000273950" "0" "30" "7" "94030873" "94030873" "subst" "1.5674E-5" "01943" "COL1A2_000827" "g.94030873C>T" "" "" "" "COL1A2(NM_000089.3):c.226-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94401561C>T" "" "likely benign" "" "0000273951" "0" "30" "7" "94030870" "94030870" "subst" "0" "01943" "COL1A2_000826" "g.94030870C>T" "" "" "" "COL1A2(NM_000089.3):c.226-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94401558C>T" "" "likely benign" "" "0000273952" "0" "30" "7" "94054509" "94054509" "subst" "5.68948E-5" "01943" "COL1A2_000862" "g.94054509C>T" "" "" "" "COL1A2(NM_000089.3):c.2754C>T (p.N918=), COL1A2(NM_000089.4):c.2754C>T (p.N918=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94425197C>T" "" "likely benign" "" "0000338908" "0" "30" "7" "94027043" "94027043" "subst" "0" "02327" "COL1A2_000698" "g.94027043C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94397731C>T" "" "likely benign" "" "0000338909" "0" "10" "7" "94038934" "94038934" "subst" "0.781776" "02327" "COL1A2_000836" "g.94038934C>T" "" "" "" "COL1A2(NM_000089.4):c.936+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94409622C>T" "" "benign" "" "0000338910" "0" "10" "7" "94039032" "94039032" "subst" "0.775211" "02327" "COL1A2_000417" "g.94039032C>T" "" "" "" "COL1A2(NM_000089.4):c.937-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94409720C>T" "" "benign" "" "0000338911" "0" "10" "7" "94043274" "94043274" "subst" "0.274368" "02327" "COL1A2_000845" "g.94043274A>G" "" "" "" "COL1A2(NM_000089.4):c.1665+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94413962A>G" "" "benign" "" "0000340568" "0" "10" "7" "94041937" "94041937" "subst" "0.339081" "02327" "COL1A2_000311" "g.94041937A>C" "" "" "" "COL1A2(NM_000089.4):c.1446A>C (p.P482=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94412625A>C" "" "benign" "" "0000340569" "0" "10" "7" "94056349" "94056349" "subst" "0.122429" "02327" "COL1A2_000316" "g.94056349C>T" "" "" "" "COL1A2(NM_000089.4):c.3135C>T (p.G1045=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94427037C>T" "" "benign" "" "0000345947" "0" "70" "7" "94038679" "94038679" "subst" "8.12137E-6" "02327" "COL1A2_000017" "g.94038679G>A" "" "" "" "COL1A2(NM_000089.4):c.838G>A (p.G280S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94409367G>A" "" "likely pathogenic" "" "0000348499" "0" "10" "7" "94043239" "94043239" "subst" "0.771791" "02327" "COL1A2_000312" "g.94043239C>G" "" "" "" "COL1A2(NM_000089.4):c.1645C>G (p.P549A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94413927C>G" "" "benign" "" "0000351444" "0" "10" "7" "94059899" "94059899" "subst" "0" "02327" "COL1A2_000701" "g.94059899C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94430587C>T" "" "benign" "" "0000533077" "0" "10" "7" "94027052" "94027053" "dup" "0" "02329" "COL1A2_000702" "g.94027052_94027053dup" "" "" "" "COL1A2(NM_000089.4):c.71-8_71-7dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94397740_94397741dup" "" "benign" "" "0000533078" "0" "30" "7" "94034224" "94034224" "subst" "0" "02329" "COL1A2_000828" "g.94034224C>T" "" "" "" "COL1A2(NM_000089.4):c.432+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94404912C>T" "" "likely benign" "" "0000533079" "0" "90" "7" "94035599" "94035599" "subst" "0" "02329" "COL1A2_000008" "g.94035599G>A" "" "" "" "COL1A2(NM_000089.4):c.578G>A (p.G193D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94406287G>A" "" "pathogenic" "" "0000533080" "0" "10" "7" "94035620" "94035620" "subst" "0.00369302" "01943" "COL1A2_000705" "g.94035620A>T" "" "" "" "COL1A2(NM_000089.3):c.594+5A>T (p.?), COL1A2(NM_000089.4):c.594+5A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94406308A>T" "" "benign" "" "0000533081" "0" "10" "7" "94035620" "94035620" "subst" "0.00369302" "02329" "COL1A2_000705" "g.94035620A>T" "" "" "" "COL1A2(NM_000089.3):c.594+5A>T (p.?), COL1A2(NM_000089.4):c.594+5A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94406308A>T" "" "benign" "" "0000533082" "0" "30" "7" "94037156" "94037156" "subst" "0" "02329" "COL1A2_000242" "g.94037156T>A" "" "" "" "COL1A2(NM_000089.4):c.595-3T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94407844T>A" "" "likely benign" "" "0000533083" "0" "50" "7" "94037526" "94037526" "subst" "5.68523E-5" "01943" "COL1A2_000589" "g.94037526G>A" "" "" "" "COL1A2(NM_000089.3):c.671G>A (p.R224H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94408214G>A" "" "VUS" "" "0000533084" "0" "30" "7" "94037534" "94037534" "subst" "0.000686322" "01804" "COL1A2_000708" "g.94037534G>A" "" "" "" "COL1A2(NM_000089.3):c.679G>A (p.(Ala227Thr)), COL1A2(NM_000089.4):c.679G>A (p.A227T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94408222G>A" "" "likely benign" "" "0000533085" "0" "30" "7" "94038649" "94038649" "subst" "0.00124667" "01943" "COL1A2_000348" "g.94038649G>A" "" "" "" "COL1A2(NM_000089.3):c.808G>A (p.V270I, p.(Val270Ile)), COL1A2(NM_000089.4):c.808G>A (p.V270I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94409337G>A" "" "likely benign" "" "0000533086" "0" "30" "7" "94038649" "94038649" "subst" "0.00124667" "01804" "COL1A2_000348" "g.94038649G>A" "" "" "" "COL1A2(NM_000089.3):c.808G>A (p.V270I, p.(Val270Ile)), COL1A2(NM_000089.4):c.808G>A (p.V270I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94409337G>A" "" "likely benign" "" "0000533087" "0" "50" "7" "94038720" "94038720" "subst" "0" "01943" "COL1A2_000709" "g.94038720C>G" "" "" "" "COL1A2(NM_000089.3):c.879C>G (p.P293=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94409408C>G" "" "VUS" "" "0000533088" "0" "30" "7" "94038863" "94038863" "subst" "0.000588799" "02329" "COL1A2_000710" "g.94038863C>G" "" "" "" "COL1A2(NM_000089.4):c.892-13C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94409551C>G" "" "likely benign" "" "0000533089" "0" "10" "7" "94039032" "94039032" "subst" "0.775211" "02325" "COL1A2_000417" "g.94039032C>T" "" "" "" "COL1A2(NM_000089.4):c.937-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94409720C>T" "" "benign" "" "0000533090" "0" "10" "7" "94039032" "94039032" "subst" "0.775211" "02329" "COL1A2_000417" "g.94039032C>T" "" "" "" "COL1A2(NM_000089.4):c.937-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94409720C>T" "" "benign" "" "0000533091" "0" "90" "7" "94039107" "94039107" "subst" "0" "02327" "COL1A2_000029" "g.94039107G>A" "" "" "" "COL1A2(NM_000089.4):c.1009G>A (p.G337S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94409795G>A" "" "pathogenic" "" "0000533092" "0" "30" "7" "94040362" "94040362" "subst" "0.00418622" "01943" "COL1A2_000712" "g.94040362G>T" "" "" "" "COL1A2(NM_000089.3):c.1252-6G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94411050G>T" "" "likely benign" "" "0000533093" "0" "50" "7" "94040411" "94040411" "subst" "6.98178E-5" "01943" "COL1A2_000713" "g.94040411G>A" "" "" "" "COL1A2(NM_000089.3):c.1295G>A (p.R432Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94411099G>A" "" "VUS" "" "0000533094" "0" "50" "7" "94041965" "94041965" "subst" "4.88448E-5" "01943" "COL1A2_000714" "g.94041965A>G" "" "" "" "COL1A2(NM_000089.3):c.1474A>G (p.I492V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94412653A>G" "" "VUS" "" "0000533095" "0" "30" "7" "94042412" "94042412" "subst" "5.27889E-5" "02329" "COL1A2_000715" "g.94042412C>T" "" "" "" "COL1A2(NM_000089.4):c.1521C>T (p.N507=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94413100C>T" "" "likely benign" "" "0000533096" "0" "90" "7" "94044584" "94044584" "del" "0" "02329" "COL1A2_000716" "g.94044584del" "" "" "" "COL1A2(NM_000089.4):c.1764+2delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94415272del" "" "pathogenic" "" "0000533097" "0" "30" "7" "94047038" "94047038" "subst" "0.000145394" "01804" "COL1A2_000717" "g.94047038T>C" "" "" "" "COL1A2(NM_000089.3):c.1866T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94417726T>C" "" "likely benign" "" "0000533098" "0" "30" "7" "94048862" "94048862" "subst" "0.00208806" "01943" "COL1A2_000359" "g.94048862G>A" "" "" "" "COL1A2(NM_000089.3):c.2078G>A (p.R693Q), COL1A2(NM_000089.4):c.2078G>A (p.(Arg693Gln), p.R693Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94419550G>A" "" "likely benign" "" "0000533099" "0" "90" "7" "94049721" "94049721" "subst" "0" "02327" "COL1A2_000718" "g.94049721G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94420409G>T" "" "pathogenic" "" "0000533100" "0" "30" "7" "94049732" "94049732" "subst" "0.000178738" "01943" "COL1A2_000719" "g.94049732C>T" "" "" "" "COL1A2(NM_000089.3):c.2163C>T (p.G721=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94420420C>T" "" "likely benign" "" "0000533101" "0" "30" "7" "94049737" "94049737" "subst" "4.4682E-5" "02329" "COL1A2_000720" "g.94049737A>T" "" "" "" "COL1A2(NM_000089.4):c.2168A>T (p.(Asn723Ile), p.N723I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94420425A>T" "" "likely benign" "" "0000533102" "0" "90" "7" "94049925" "94049925" "subst" "0" "02329" "COL1A2_000721" "g.94049925G>A" "" "" "" "COL1A2(NM_000089.4):c.2260G>A (p.G754S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94420613G>A" "" "pathogenic" "" "0000533103" "0" "30" "7" "94049927" "94049927" "subst" "0" "01943" "COL1A2_000722" "g.94049927T>C" "" "" "" "COL1A2(NM_000089.3):c.2262T>C (p.G754=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94420615T>C" "" "likely benign" "" "0000533104" "0" "30" "7" "94050334" "94050334" "subst" "8.12427E-5" "01943" "COL1A2_000723" "g.94050334C>T" "" "" "" "COL1A2(NM_000089.3):c.2309C>T (p.P770L), COL1A2(NM_000089.4):c.2309C>T (p.P770L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94421022C>T" "" "likely benign" "" "0000533105" "0" "90" "7" "94050339" "94050339" "subst" "0" "02329" "COL1A2_000094" "g.94050339G>A" "" "" "" "COL1A2(NM_000089.4):c.2314G>A (p.G772S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94421027G>A" "" "pathogenic" "" "0000533106" "0" "30" "7" "94051274" "94051274" "subst" "1.21963E-5" "02329" "COL1A2_000854" "g.94051274T>C" "" "" "" "COL1A2(NM_000089.4):c.2403+10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94421962T>C" "" "likely benign" "" "0000533107" "0" "90" "7" "94052279" "94052279" "subst" "0" "02329" "COL1A2_000490" "g.94052279G>T" "" "" "" "COL1A2(NM_000089.4):c.2414G>T (p.G805V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94422967G>T" "" "pathogenic" "" "0000533108" "0" "50" "7" "94052321" "94052321" "subst" "8.12328E-5" "01943" "COL1A2_000560" "g.94052321G>A" "" "" "" "COL1A2(NM_000089.3):c.2456G>A (p.R819H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94423009G>A" "" "VUS" "" "0000533109" "0" "30" "7" "94052428" "94052428" "subst" "0.00026418" "01943" "COL1A2_000857" "g.94052428G>A" "" "" "" "COL1A2(NM_000089.3):c.2563G>A (p.A855T, p.(Ala855Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94423116G>A" "" "likely benign" "" "0000533110" "0" "30" "7" "94052428" "94052428" "subst" "0.00026418" "01804" "COL1A2_000857" "g.94052428G>A" "" "" "" "COL1A2(NM_000089.3):c.2563G>A (p.A855T, p.(Ala855Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94423116G>A" "" "likely benign" "" "0000533112" "0" "30" "7" "94054437" "94054437" "subst" "4.06339E-6" "02329" "COL1A2_000859" "g.94054437T>A" "" "" "" "COL1A2(NM_000089.4):c.2682T>A (p.P894=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94425125T>A" "" "likely benign" "" "0000533113" "0" "30" "7" "94054455" "94054455" "subst" "0.000556639" "01943" "COL1A2_000860" "g.94054455C>T" "" "" "" "COL1A2(NM_000089.3):c.2700C>T (p.A900=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94425143C>T" "" "likely benign" "" "0000533114" "0" "50" "7" "94054472" "94054472" "subst" "0.00015438" "01943" "COL1A2_000548" "g.94054472G>A" "" "" "" "COL1A2(NM_000089.3):c.2717G>A (p.R906H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94425160G>A" "" "VUS" "" "0000533116" "0" "30" "7" "94056353" "94056353" "subst" "0.000357773" "01943" "COL1A2_000368" "g.94056353G>A" "" "" "" "COL1A2(NM_000089.3):c.3139G>A (p.V1047M), COL1A2(NM_000089.4):c.3139G>A (p.V1047M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94427041G>A" "" "likely benign" "" "0000533117" "0" "50" "7" "94056540" "94056540" "subst" "0.000105885" "01943" "COL1A2_000865" "g.94056540G>A" "" "" "" "COL1A2(NM_000089.3):c.3200G>A (p.R1067H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94427228G>A" "" "VUS" "" "0000533118" "0" "30" "7" "94056930" "94056930" "subst" "3.25209E-5" "01943" "COL1A2_000867" "g.94056930C>T" "" "" "" "COL1A2(NM_000089.3):c.3268-9C>T, COL1A2(NM_000089.4):c.3268-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94427618C>T" "" "likely benign" "" "0000533119" "0" "50" "7" "94057039" "94057039" "subst" "1.21996E-5" "01943" "COL1A2_000868" "g.94057039G>A" "" "" "" "COL1A2(NM_000089.3):c.3368G>A (p.R1123H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94427727G>A" "" "VUS" "" "0000533120" "0" "50" "7" "94057161" "94057161" "subst" "8.15129E-6" "01943" "COL1A2_000869" "g.94057161C>T" "" "" "" "COL1A2(NM_000089.3):c.3490C>T (p.R1164C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94427849C>T" "" "VUS" "" "0000533121" "0" "50" "7" "94058641" "94058641" "subst" "0.000484066" "02325" "COL1A2_000549" "g.94058641A>C" "" "" "" "COL1A2(NM_000089.4):c.3853A>C (p.N1285H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94429329A>C" "" "VUS" "" "0000533122" "0" "70" "7" "94059577" "94059577" "subst" "0" "01943" "COL1A2_000871" "g.94059577G>T" "" "" "" "COL1A2(NM_000089.3):c.3973G>T (p.G1325*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94430265G>T" "" "likely pathogenic" "" "0000597679" "0" "70" "7" "94034015" "94034015" "subst" "0" "02544" "COL1A2_000432" "g.94034015G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.94404703G>T" "" "likely pathogenic" "" "0000597682" "0" "70" "7" "94029572" "94029572" "subst" "0" "02544" "COL1A2_000822" "g.94029572G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.94400260G>A" "" "likely pathogenic" "" "0000597683" "0" "70" "7" "94029572" "94029572" "subst" "0" "02544" "COL1A2_000822" "g.94029572G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.94400260G>A" "" "likely pathogenic" "" "0000597688" "0" "70" "7" "94054510" "94054510" "subst" "4.06349E-5" "02544" "COL1A2_000578" "g.94054510G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.94425198G>A" "" "likely pathogenic" "" "0000597689" "0" "70" "7" "94035598" "94035598" "subst" "4.06187E-6" "02544" "COL1A2_000007" "g.94035598G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.94406286G>A" "" "likely pathogenic" "" "0000597691" "0" "90" "7" "94034209" "94034209" "subst" "0" "02544" "COL1A2_000233" "g.94034209G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.94404897G>A" "" "likely pathogenic" "" "0000597692" "0" "90" "7" "94034208" "94034211" "del" "0" "02544" "COL1A2_000232" "g.94034208_94034211del" "" "" "" "432+4_432+7delAGTA" "" "Unknown" "" "" "0" "" "" "g.94404896_94404899del" "" "likely pathogenic" "" "0000611328" "0" "50" "7" "94038721" "94038721" "subst" "0.000125882" "01943" "COL1A2_000639" "g.94038721G>T" "" "" "" "COL1A2(NM_000089.3):c.880G>T (p.V294F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94409409G>T" "" "VUS" "" "0000611329" "0" "90" "7" "94042422" "94042422" "subst" "0" "02327" "COL1A2_000058" "g.94042422G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94413110G>A" "" "pathogenic" "" "0000611330" "0" "90" "7" "94049578" "94049586" "del" "0" "01943" "COL1A2_000216" "g.94049578_94049586del" "" "" "" "COL1A2(NM_000089.3):c.2113_2121delGCTGGTCCT (p.A705_P707del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94420266_94420274del" "" "pathogenic" "" "0000611331" "0" "50" "7" "94049588" "94049588" "subst" "0.000678851" "01943" "COL1A2_000178" "g.94049588G>A" "" "" "" "COL1A2(NM_000089.3):c.2123G>A (p.R708Q, p.(Arg708Gln)), COL1A2(NM_000089.4):c.2123G>A (p.R708Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94420276G>A" "" "VUS" "" "0000611332" "0" "50" "7" "94056338" "94056338" "subst" "0" "01943" "COL1A2_000752" "g.94056338G>C" "" "" "" "COL1A2(NM_000089.3):c.3124G>C (p.G1042R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94427026G>C" "" "VUS" "" "0000621954" "0" "30" "7" "94027080" "94027080" "subst" "8.60793E-6" "01943" "COL1A2_000817" "g.94027080A>G" "" "" "" "COL1A2(NM_000089.3):c.81+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94397768A>G" "" "likely benign" "" "0000621955" "0" "10" "7" "94030868" "94030868" "dup" "0" "02329" "COL1A2_000824" "g.94030868dup" "" "" "" "COL1A2(NM_000089.3):c.226-11dupT, COL1A2(NM_000089.4):c.226-11dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94401556dup" "" "benign" "" "0000621956" "0" "30" "7" "94033892" "94033892" "subst" "0.000597003" "01943" "COL1A2_000559" "g.94033892C>T" "" "" "" "COL1A2(NM_000089.3):c.304C>T (p.P102S), COL1A2(NM_000089.4):c.304C>T (p.P102S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94404580C>T" "" "likely benign" "" "0000621957" "0" "90" "7" "94056356" "94056356" "subst" "0" "02329" "COL1A2_000753" "g.94056356G>T" "" "" "" "COL1A2(NM_000089.4):c.3142G>T (p.G1048C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94427044G>T" "" "pathogenic" "" "0000652373" "1" "70" "7" "94039777" "94039777" "subst" "0" "03575" "COL1A2_000572" "g.94039777G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs786205587}" "Germline" "" "rs786205587" "0" "" "" "g.94410465G>A" "" "likely pathogenic" "" "0000652374" "1" "70" "7" "94043562" "94043562" "subst" "0" "03575" "COL1A2_000847" "g.94043562G>C" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs794727470}" "Germline" "" "rs794727470" "0" "" "" "g.94414250G>C" "" "likely pathogenic" "" "0000652375" "1" "50" "7" "94055323" "94055323" "subst" "0.000129998" "03575" "COL1A2_000863" "g.94055323C>T" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 5 heterozygous, no homozygous; {DB:CLININrs768171831}" "Germline" "" "rs768171831" "0" "" "" "g.94426011C>T" "" "VUS" "" "0000655924" "0" "10" "7" "94030868" "94030868" "del" "0" "02329" "COL1A2_000823" "g.94030868del" "" "" "" "COL1A2(NM_000089.4):c.226-11delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94401556del" "" "benign" "" "0000655925" "0" "30" "7" "94038614" "94038614" "subst" "1.21821E-5" "02329" "COL1A2_000834" "g.94038614G>T" "" "" "" "COL1A2(NM_000089.4):c.793-20G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94409302G>T" "" "likely benign" "" "0000655926" "0" "70" "7" "94039805" "94039805" "subst" "0" "02327" "COL1A2_000040" "g.94039805G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94410493G>T" "" "likely pathogenic" "" "0000655927" "0" "30" "7" "94040275" "94040275" "subst" "0" "02329" "COL1A2_000842" "g.94040275T>G" "" "" "" "COL1A2(NM_000089.4):c.1251+21T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94410963T>G" "" "likely benign" "" "0000655928" "0" "30" "7" "94043557" "94043557" "subst" "1.62454E-5" "01943" "COL1A2_000846" "g.94043557C>T" "" "" "" "COL1A2(NM_000089.3):c.1689C>T (p.P563=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94414245C>T" "" "likely benign" "" "0000655929" "0" "30" "7" "94043915" "94043915" "subst" "0" "02329" "COL1A2_000848" "g.94043915T>C" "" "" "" "COL1A2(NM_000089.4):c.1719+328T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94414603T>C" "" "likely benign" "" "0000655930" "0" "30" "7" "94044698" "94044698" "subst" "0" "02329" "COL1A2_000849" "g.94044698G>A" "" "" "" "COL1A2(NM_000089.4):c.1764+116G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94415386G>A" "" "likely benign" "" "0000655931" "0" "50" "7" "94052290" "94052290" "subst" "0.000211181" "01943" "COL1A2_000855" "g.94052290C>T" "" "" "" "COL1A2(NM_000089.3):c.2425C>T (p.P809S, p.(Pro809Ser)), COL1A2(NM_000089.4):c.2425C>T (p.P809S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94422978C>T" "" "VUS" "" "0000655932" "0" "50" "7" "94053651" "94053651" "subst" "4.4682E-5" "01943" "COL1A2_000858" "g.94053651C>T" "" "" "" "COL1A2(NM_000089.3):c.2569C>T (p.P857S, p.(Pro857Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94424339C>T" "" "VUS" "" "0000655933" "0" "30" "7" "94058751" "94058751" "subst" "0" "02329" "COL1A2_000870" "g.94058751T>C" "" "" "" "COL1A2(NM_000089.4):c.3954+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94429439T>C" "" "likely benign" "" "0000655934" "0" "50" "7" "94059623" "94059623" "subst" "0" "02327" "COL1A2_000766" "g.94059623C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94430311C>A" "" "VUS" "" "0000663949" "0" "99" "7" "94039098" "94039098" "subst" "0" "03235" "COL1A2_000028" "g.94039098G>A" "" "{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}" "" "" "ACMG PS1 PS3 PP1" "Germline" "" "" "0" "" "" "g.94409786G>A" "" "pathogenic (dominant)" "ACMG" "0000663950" "0" "55" "7" "94058671" "94058671" "subst" "4.06663E-5" "03235" "COL1A2_000786" "g.94058671T>C" "" "{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}" "" "" "ACMG PM2 PM6 PP3. Curator remarks: ser is preplaced by pro, which may effect the proteinfolding." "Germline" "" "" "0" "" "" "g.94429359T>C" "Likely benign" "VUS" "ACMG" "0000663972" "0" "79" "7" "94037667" "94037667" "subst" "0" "03235" "COL1A2_000767" "g.94037667G>T" "" "{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}" "" "" "ACMG PS3 PM2 PP3 PP4" "Germline" "" "" "0" "" "" "g.94408355G>T" "" "likely pathogenic (dominant)" "ACMG" "0000663973" "0" "99" "7" "94039552" "94039552" "subst" "0" "03235" "COL1A2_000531" "g.94039552A>C" "" "{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}" "" "" "ACMG PVS1 PS3" "Germline" "" "" "0" "" "" "g.94410240A>C" "" "pathogenic (dominant)" "ACMG" "0000663974" "0" "99" "7" "94039590" "94039590" "subst" "0" "03235" "COL1A2_000036" "g.94039590G>A" "" "{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}" "" "" "ACMG PS1 PS3" "Germline" "" "" "0" "" "" "g.94410278G>A" "" "pathogenic (dominant)" "ACMG" "0000663975" "0" "99" "7" "94041407" "94041407" "subst" "0" "03235" "COL1A2_000051" "g.94041407G>A" "" "{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}" "" "" "ACMG PS1 PS3 PM6" "Germline" "" "" "0" "" "" "g.94412095G>A" "" "pathogenic (dominant)" "ACMG" "0000663976" "0" "99" "7" "94041977" "94041977" "subst" "0" "03235" "COL1A2_000772" "g.94041977G>A" "" "{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}" "" "" "ACMG PS1 PS3" "Germline" "" "" "0" "" "" "g.94412665G>A" "" "pathogenic (dominant)" "ACMG" "0000663977" "0" "99" "7" "94043030" "94043030" "subst" "0" "03235" "COL1A2_000610" "g.94043030G>A" "" "{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}" "" "" "ACMG PS1 PS3" "Germline" "" "" "0" "" "" "g.94413718G>A" "" "pathogenic (dominant)" "ACMG" "0000663978" "0" "79" "7" "94044572" "94044574" "dup" "0" "03235" "COL1A2_000774" "g.94044572_94044574dup" "" "{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}" "" "1755_1756insGCT" "ACMG PM2 PM4 PM6 PP3" "Germline" "" "" "0" "" "" "g.94415260_94415262dup" "" "likely pathogenic (dominant)" "ACMG" "0000663979" "0" "99" "7" "94045754" "94045754" "subst" "0" "03235" "COL1A2_000470" "g.94045754G>T" "" "{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}" "" "" "ACMG PS1 PS3" "Germline" "" "" "0" "" "" "g.94416442G>T" "" "pathogenic (dominant)" "ACMG" "0000663980" "0" "99" "7" "94049563" "94049563" "subst" "0" "03235" "COL1A2_000335" "g.94049563G>C" "" "{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}" "" "" "ACMG PS1 PS3" "Germline" "" "" "0" "" "" "g.94420251G>C" "" "pathogenic (dominant)" "ACMG" "0000663981" "0" "99" "7" "94049573" "94049573" "subst" "0" "03235" "COL1A2_000499" "g.94049573G>T" "" "{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}" "" "" "ACMG PS1 PS3 PM6" "Germline" "" "" "0" "" "" "g.94420261G>T" "" "pathogenic (dominant)" "ACMG" "0000663982" "0" "99" "7" "94049880" "94049880" "subst" "0" "03235" "COL1A2_000087" "g.94049880G>A" "" "{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}" "" "" "ACMG PS1 PS3" "Germline" "" "" "0" "" "" "g.94420568G>A" "" "pathogenic (dominant)" "ACMG" "0000663983" "0" "99" "7" "94050339" "94050339" "subst" "0" "03235" "COL1A2_000094" "g.94050339G>A" "" "{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}" "" "" "ACMG PS1 PS3" "Germline" "" "" "0" "" "" "g.94421027G>A" "" "pathogenic (dominant)" "ACMG" "0000663984" "0" "99" "7" "94054430" "94054430" "subst" "0" "03235" "COL1A2_000192" "g.94054430G>A" "" "{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}" "" "" "ACMG PS1 PS3" "Germline" "" "" "0" "" "" "g.94425118G>A" "" "pathogenic (dominant)" "ACMG" "0000663985" "0" "99" "7" "94054931" "94054931" "subst" "0" "03235" "COL1A2_000635" "g.94054931G>A" "" "{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}" "" "" "ACMG PS1 PS3 PM6" "Germline" "" "" "0" "" "" "g.94425619G>A" "" "pathogenic (dominant)" "ACMG" "0000663986" "0" "99" "7" "94055771" "94055771" "subst" "0" "03235" "COL1A2_000115" "g.94055771G>A" "" "{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}" "" "" "ACMG PS1 PS3" "Germline" "" "" "0" "" "" "g.94426459G>A" "" "pathogenic (dominant)" "ACMG" "0000663987" "0" "99" "7" "94055771" "94055771" "subst" "0" "03235" "COL1A2_000115" "g.94055771G>A" "" "{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}" "" "" "ACMG PS1 PS3" "Germline" "" "" "0" "" "" "g.94426459G>A" "" "pathogenic (dominant)" "ACMG" "0000663988" "0" "99" "7" "94055771" "94055771" "subst" "0" "03235" "COL1A2_000782" "g.94055771G>T" "" "{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}" "" "" "ACMG PS3 PM2 PM5 PM6 PP3 PP4" "Germline" "" "" "0" "" "" "g.94426459G>T" "" "pathogenic (dominant)" "ACMG" "0000663989" "0" "99" "7" "94056600" "94056600" "subst" "0" "03235" "COL1A2_000783" "g.94056600G>T" "" "{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}" "" "" "ACMG PS1 PS3" "Germline" "" "" "0" "" "" "g.94427288G>T" "" "pathogenic (dominant)" "ACMG" "0000663990" "0" "99" "7" "94056948" "94056948" "subst" "0" "03235" "COL1A2_000784" "g.94056948G>C" "" "{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}" "" "" "ACMG PS1 PS3" "Germline" "" "" "0" "" "" "g.94427636G>C" "" "pathogenic (dominant)" "ACMG" "0000663991" "0" "99" "7" "94056976" "94056976" "subst" "0" "03235" "COL1A2_000130" "g.94056976G>T" "" "{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}" "" "" "ACMG PS1 PS3 PM6" "Germline" "" "" "0" "" "" "g.94427664G>T" "" "pathogenic (dominant)" "ACMG" "0000664435" "1" "90" "7" "94034556" "94034556" "subst" "0" "00006" "COL1A2_000650" "g.94034556G>A" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "" "" "Germline" "" "" "0" "" "" "g.94405244G>A" "" "pathogenic (dominant)" "" "0000664436" "1" "90" "7" "94035589" "94035589" "subst" "0" "00006" "COL1A2_000646" "g.94035589G>C" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "" "" "Germline" "" "" "0" "" "" "g.94406277G>C" "" "pathogenic (dominant)" "" "0000664437" "1" "90" "7" "94038716" "94038716" "subst" "0" "00006" "COL1A2_000651" "g.94038716G>A" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "" "" "Germline" "" "" "0" "" "" "g.94409404G>A" "" "pathogenic (dominant)" "" "0000664438" "1" "90" "7" "94043030" "94043030" "subst" "0" "00006" "COL1A2_000610" "g.94043030G>A" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "" "" "Germline" "" "" "0" "" "" "g.94413718G>A" "" "pathogenic (dominant)" "" "0000664439" "1" "90" "7" "94044566" "94044566" "subst" "0" "00006" "COL1A2_000791" "g.94044566G>C" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "" "" "Germline" "" "" "0" "" "" "g.94415254G>C" "" "pathogenic (dominant)" "" "0000664440" "1" "90" "7" "94050349" "94050349" "subst" "0" "00006" "COL1A2_000582" "g.94050349G>A" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "" "" "Germline" "" "" "0" "" "" "g.94421037G>A" "" "pathogenic (dominant)" "" "0000664441" "1" "90" "7" "94050355" "94050355" "subst" "2.43702E-5" "00006" "COL1A2_000796" "g.94050355G>A" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "" "" "Germline" "" "" "0" "" "" "g.94421043G>A" "" "pathogenic (dominant)" "" "0000664442" "1" "90" "7" "94050366" "94050366" "subst" "0" "00006" "COL1A2_000797" "g.94050366G>A" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "" "" "Germline" "" "" "0" "" "" "g.94421054G>A" "" "pathogenic (dominant)" "" "0000664443" "1" "90" "7" "94058602" "94058602" "subst" "0" "00006" "COL1A2_000804" "g.94058602T>C" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "" "" "Germline" "" "" "0" "" "" "g.94429290T>C" "" "pathogenic (dominant)" "" "0000664484" "1" "90" "7" "94038679" "94038679" "subst" "8.12137E-6" "00006" "COL1A2_000017" "g.94038679G>A" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "" "" "Germline" "" "" "0" "" "" "g.94409367G>A" "" "pathogenic (dominant)" "" "0000664485" "1" "90" "7" "94038679" "94038679" "subst" "8.12137E-6" "00006" "COL1A2_000017" "g.94038679G>A" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "" "" "Germline" "" "" "0" "" "" "g.94409367G>A" "" "pathogenic (dominant)" "" "0000664486" "1" "90" "7" "94039080" "94039080" "subst" "0" "00006" "COL1A2_000025" "g.94039080G>A" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "" "" "Germline" "" "" "0" "" "" "g.94409768G>A" "" "pathogenic (dominant)" "" "0000664487" "1" "90" "7" "94039080" "94039080" "subst" "0" "00006" "COL1A2_000025" "g.94039080G>A" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "" "" "Germline" "" "" "0" "" "" "g.94409768G>A" "" "pathogenic (dominant)" "" "0000664488" "1" "90" "7" "94039107" "94039107" "subst" "0" "00006" "COL1A2_000029" "g.94039107G>A" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "" "" "Germline" "" "" "0" "" "" "g.94409795G>A" "" "pathogenic (dominant)" "" "0000664489" "1" "99" "7" "94039590" "94039590" "subst" "0" "00006" "COL1A2_000036" "g.94039590G>A" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "" "" "Germline" "" "" "0" "" "" "g.94410278G>A" "" "pathogenic (dominant)" "" "0000664490" "1" "90" "7" "94039844" "94039844" "subst" "0" "00006" "COL1A2_000256" "g.94039844G>A" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "" "" "Germline" "" "" "0" "" "" "g.94410532G>A" "" "pathogenic (dominant)" "" "0000664491" "1" "90" "7" "94049862" "94049862" "subst" "0" "00006" "COL1A2_000180" "g.94049862G>T" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "" "" "Germline" "" "" "0" "" "" "g.94420550G>T" "" "pathogenic (dominant)" "" "0000664492" "1" "90" "7" "94049907" "94049907" "subst" "0" "00006" "COL1A2_000537" "g.94049907G>A" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "" "" "Germline" "" "" "0" "" "" "g.94420595G>A" "" "pathogenic (dominant)" "" "0000664493" "1" "90" "7" "94050321" "94050321" "subst" "0" "00006" "COL1A2_000091" "g.94050321G>A" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "" "" "Germline" "" "" "0" "" "" "g.94421009G>A" "" "pathogenic (dominant)" "" "0000664494" "1" "90" "7" "94051248" "94051248" "subst" "0" "00006" "COL1A2_000098" "g.94051248G>C" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "" "" "Germline" "" "" "0" "" "" "g.94421936G>C" "" "pathogenic (dominant)" "" "0000664495" "1" "90" "7" "94052278" "94052278" "subst" "0" "00006" "COL1A2_000472" "g.94052278G>C" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "" "" "Germline" "" "" "0" "" "" "g.94422966G>C" "" "pathogenic (dominant)" "" "0000664496" "1" "90" "7" "94052350" "94052350" "subst" "0" "00006" "COL1A2_000100" "g.94052350G>A" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "" "" "Germline" "" "" "0" "" "" "g.94423038G>A" "" "pathogenic (dominant)" "" "0000664497" "1" "90" "7" "94052431" "94052431" "subst" "0" "00006" "COL1A2_000274" "g.94052431G>A" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "" "" "Germline" "" "" "0" "" "" "g.94423119G>A" "" "pathogenic (dominant)" "" "0000664498" "1" "90" "7" "94052431" "94052431" "subst" "0" "00006" "COL1A2_000274" "g.94052431G>A" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "" "" "Germline" "" "" "0" "" "" "g.94423119G>A" "" "pathogenic (dominant)" "" "0000664499" "1" "90" "7" "94055144" "94055144" "subst" "0" "00006" "COL1A2_000111" "g.94055144G>A" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "" "" "Germline" "" "" "0" "" "" "g.94425832G>A" "" "pathogenic (dominant)" "" "0000664500" "1" "90" "7" "94055771" "94055771" "subst" "0" "00006" "COL1A2_000115" "g.94055771G>A" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "" "" "Germline" "" "" "0" "" "" "g.94426459G>A" "" "pathogenic (dominant)" "" "0000664501" "1" "90" "7" "94055771" "94055771" "subst" "0" "00006" "COL1A2_000115" "g.94055771G>A" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "" "" "Germline" "" "" "0" "" "" "g.94426459G>A" "" "pathogenic (dominant)" "" "0000664502" "1" "90" "7" "94056976" "94056976" "subst" "0" "00006" "COL1A2_000453" "g.94056976G>C" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "" "" "Germline" "" "" "0" "" "" "g.94427664G>C" "" "pathogenic (dominant)" "" "0000664515" "0" "90" "7" "0" "0" "" "0" "00006" "COL1A2_000000" "g.94038711_qterdelins[NC_000005.9:146294373_qter]" "" "{PMID:Liu 2017:28725987}" "" "chr5:146294373,chr7:94038710" "translocation" "Germline/De novo (untested)" "" "" "0" "" "t(5;7)(q32;q21)" "" "" "pathogenic" "" "0000673883" "0" "70" "7" "94043207" "94043207" "subst" "0" "03729" "COL1A2_000805" "g.94043207G>A" "" "" "" "g.94413895G>A" "" "De novo" "?" "" "0" "" "" "g.94413895G>A" "{CV-SCV:000987183.1}" "VUS" "ACMG" "0000678225" "0" "70" "7" "94043535" "94043535" "subst" "0" "02327" "COL1A2_000806" "g.94043535G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000678226" "0" "30" "7" "94053642" "94053642" "subst" "0.000117836" "01804" "COL1A2_000807" "g.94053642A>G" "" "" "" "COL1A2(NM_000089.3):c.2566-6A>G (p.(=)), COL1A2(NM_000089.4):c.2566-6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690104" "0" "30" "7" "94037534" "94037534" "subst" "0.000686322" "02325" "COL1A2_000708" "g.94037534G>A" "" "" "" "COL1A2(NM_000089.3):c.679G>A (p.(Ala227Thr)), COL1A2(NM_000089.4):c.679G>A (p.A227T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690105" "0" "30" "7" "94038870" "94038870" "subst" "4.06065E-6" "01804" "COL1A2_000808" "g.94038870T>G" "" "" "" "COL1A2(NM_000089.3):c.892-6T>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690106" "0" "30" "7" "94039607" "94039607" "subst" "2.43744E-5" "01943" "COL1A2_000809" "g.94039607C>T" "" "" "" "COL1A2(NM_000089.3):c.1089C>T (p.P363=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690107" "0" "30" "7" "94044592" "94044592" "subst" "0" "02326" "COL1A2_000810" "g.94044592A>G" "" "" "" "COL1A2(NM_000089.3):c.1764+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690108" "0" "30" "7" "94052839" "94052839" "subst" "0" "02329" "COL1A2_000811" "g.94052839T>C" "" "" "" "COL1A2(NM_000089.4):c.2565+409T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690109" "0" "90" "7" "94054429" "94054429" "subst" "0" "02325" "COL1A2_000812" "g.94054429G>C" "" "" "" "COL1A2(NM_000089.4):c.2674G>C (p.G892R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000704182" "0" "70" "7" "94045817" "94045817" "subst" "0" "01807" "COL1A2_000813" "g.94045817T>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000706967" "0" "99" "7" "94023873" "94038921" "del" "0" "03855" "COL1A2_000413" "g.(?_94023873)_(94038921_94039034)del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.(?_94394561)_(94409609_94409722)del" "" "pathogenic" "" "0000706968" "0" "97" "7" "94024355" "94024355" "subst" "4.06072E-6" "00085" "COL1A2_000732" "g.94024355T>G" "" "{PMID:Zhang et al., 2017:27748872}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000706969" "0" "99" "7" "94025130" "94025130" "subst" "0" "03704" "COL1A2_000261" "g.94025130A>G" "" "{PMID:Schwarze et al., 2004:15077201}" "" "" "" "Unknown" "" "rs72656354" "0" "" "" "" "" "pathogenic" "" "0000706970" "0" "11" "7" "94027699" "94027699" "subst" "0.0578492" "00085" "COL1A2_000308" "g.94027699T>C" "" "{PMID:Zhuang et al., 1996:8829649} {PMID:Yoneyama et al., 2004:14739420} {PMID:Chan et al., 2008:18272325} {PMID:Bodian et al., 2009:18996919}" "" "" "" "Unknown" "" "rs1801182" "0" "" "" "" "" "likely benign" "" "0000706971" "0" "97" "7" "94028374" "94028374" "subst" "0" "00085" "COL1A2_000733" "g.94028374A>G" "" "{PMID:Zhang et al., 2017:27748872}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000706972" "0" "33" "7" "94028382" "94028382" "subst" "8.12301E-6" "03855" "COL1A2_000391" "g.94028382C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "benign" "" "0000706973" "10" "99" "7" "94029508" "94029508" "subst" "0" "03883" "COL1A2_000757" "g.94029508G>T" "" "Morlino et al., submitted 2019" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000706974" "21" "97" "7" "94029589" "94029589" "subst" "0" "03869" "COL1A2_000513" "g.94029589G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000706975" "0" "99" "7" "94030857" "94030868" "del" "0" "00085" "COL1A2_000434" "g.94030857_94030868del" "" "{PMID:Giunta and Steinmann, 2008:20960610}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000706976" "0" "99" "7" "94030862" "94030944" "del" "0" "03704" "COL1A2_000207" "g.94030862_94030944del" "" "{PMID:Byers et al., 1997:9295084}" "" "" "" "Unknown" "" "rs74315131" "0" "" "" "" "" "pathogenic" "" "0000706977" "0" "99" "7" "94030877" "94030877" "subst" "0" "03704" "COL1A2_000224" "g.94030877A>G" "" "{PMID:Byers et al., 1997:9295084}" "" "" "" "Unknown" "" "rs72656355" "0" "" "" "" "" "pathogenic" "" "0000706978" "0" "99" "7" "94030877" "94030877" "subst" "0" "00085" "COL1A2_000224" "g.94030877A>G" "" "{PMID:Marini et al., 2007:17078022} (Marini, Cabral and Pals, personal communication)" "" "" "" "Unknown" "" "rs72656355" "0" "" "" "" "" "pathogenic" "" "0000706979" "0" "99" "7" "94030877" "94030877" "subst" "0" "00085" "COL1A2_000224" "g.94030877A>G" "" "{PMID:Klaassens et al., 2011:21801164}" "" "" "" "Unknown" "" "rs72656355" "0" "" "" "" "" "pathogenic" "" "0000706980" "0" "99" "7" "94030878" "94030878" "subst" "0" "03704" "COL1A2_000225" "g.94030878G>A" "" "{PMID:Byers et al., 1997:9295084}" "" "" "" "Unknown" "" "rs66820119" "0" "" "" "" "" "pathogenic" "" "0000706981" "0" "99" "7" "94030878" "94030878" "subst" "0" "00085" "COL1A2_000226" "g.94030878G>C" "" "{PMID:Chiodo et al., 1992:1556139}" "" "" "" "Unknown" "" "rs66820119" "0" "" "" "" "" "pathogenic" "" "0000706982" "0" "11" "7" "94030899" "94030899" "subst" "0.162822" "00085" "COL1A2_000309" "g.94030899T>C" "" "{PMID:Strobel et al., 1992:1603040} {PMID:Yoneyama et al., 2004:14739420} {PMID:Chan et al., 2008:18272325} {PMID:Bodian et al., 2009:18996919}" "" "" "" "Unknown" "" "rs1800222" "0" "" "" "" "" "likely benign" "" "0000706983" "0" "99" "7" "94030932" "94030932" "subst" "0" "03704" "COL1A2_000227" "g.94030932G>A" "" "{PMID:Byers et al., 1997:9295084}" "" "" "" "Unknown" "" "rs72656356" "0" "" "" "" "" "pathogenic" "" "0000706984" "0" "99" "7" "94030932" "94030932" "subst" "0" "00085" "COL1A2_000227" "g.94030932G>A" "" "{PMID:Weil et al., 1989b:2777808}" "" "" "" "Unknown" "" "rs72656356" "0" "" "" "" "" "pathogenic" "" "0000706985" "0" "99" "7" "94030933" "94030933" "subst" "0" "00085" "COL1A2_000228" "g.94030933G>A" "" "{PMID:Weil et al., 1990:2394758}" "" "" "" "Unknown" "" "rs67398234" "0" "" "" "" "" "pathogenic" "" "0000706986" "0" "99" "7" "94030933" "94030933" "subst" "0" "00085" "COL1A2_000228" "g.94030933G>A" "" "{PMID:Vasan et al., 1991:1990839}" "" "" "" "Unknown" "" "rs67398234" "0" "" "" "" "" "pathogenic" "" "0000706987" "0" "99" "7" "94030933" "94030933" "subst" "0" "00085" "COL1A2_000228" "g.94030933G>A" "" "{PMID:Nicholls et al., 1991:1712342}" "" "" "" "Unknown" "" "rs67398234" "0" "" "" "" "" "pathogenic" "" "0000706988" "20" "99" "7" "94030933" "94030933" "subst" "0" "03704" "COL1A2_000228" "g.94030933G>A" "" "{PMID:Watson et al., 1992:1577745}" "" "" "" "Unknown" "" "rs67398234" "0" "" "" "" "" "pathogenic" "" "0000706989" "0" "99" "7" "94030933" "94030933" "subst" "0" "00085" "COL1A2_000228" "g.94030933G>A" "" "{PMID:Lehmann et al., 1994:7864655}" "" "" "" "Unknown" "" "rs67398234" "0" "" "" "" "" "pathogenic" "" "0000706990" "0" "99" "7" "94030933" "94030933" "subst" "0" "00085" "COL1A2_000228" "g.94030933G>A" "" "{PMID:Giunta et al., 1999:10073586}" "" "" "" "Unknown" "" "rs67398234" "0" "" "" "" "" "pathogenic" "" "0000706991" "0" "99" "7" "94030933" "94030933" "subst" "0" "00085" "COL1A2_000462" "g.94030933G>C" "" "{PMID:Klaassens et al., 2011:21801164}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000706992" "0" "99" "7" "94030933" "94030933" "subst" "0" "03704" "COL1A2_000229" "g.94030933G>T" "" "{PMID:Byers et al., 1997:9295084}" "" "" "" "Unknown" "" "rs67398235" "0" "" "" "" "" "pathogenic" "" "0000706993" "0" "99" "7" "94030933" "94030933" "subst" "0" "03704" "COL1A2_000229" "g.94030933G>T" "" "{PMID:Byers et al., 1997:9295084}" "" "" "" "Unknown" "" "rs67398235" "0" "" "" "" "" "pathogenic" "" "0000706994" "21" "99" "7" "94030933" "94030933" "subst" "0" "00085" "COL1A2_000229" "g.94030933G>T" "" "{PMID:Nicholls et al., 2000:11073542}" "" "" "" "Unknown" "" "rs67398235" "0" "" "" "" "" "pathogenic" "" "0000706995" "0" "99" "7" "94030933" "94030933" "subst" "0" "00085" "COL1A2_000229" "g.94030933G>T" "" "{PMID:Klaassens et al., 2011:21801164}" "" "" "" "Unknown" "" "rs67398235" "0" "" "" "" "" "pathogenic" "" "0000706996" "0" "99" "7" "94030933" "94030933" "subst" "0" "00085" "COL1A2_000229" "g.94030933G>T" "" "{PMID:Hatamochi et al., 2014:24440294}" "" "" "" "Unknown" "" "rs67398235" "0" "" "" "" "" "pathogenic" "" "0000706997" "0" "99" "7" "94030934" "94030934" "subst" "0" "00085" "COL1A2_000230" "g.94030934T>C" "" "{PMID:Weil et al., 1988:2454224}" "" "" "" "Unknown" "" "rs72656357" "0" "" "" "" "" "pathogenic" "" "0000706998" "0" "99" "7" "94030934" "94030934" "subst" "0" "00085" "COL1A2_000230" "g.94030934T>C" "" "{PMID:Ho et al., 1994:8081389}" "" "" "" "Unknown" "" "rs72656357" "0" "" "" "" "" "pathogenic" "" "0000706999" "0" "99" "7" "94030934" "94030934" "subst" "0" "00085" "COL1A2_000230" "g.94030934T>C" "" "{PMID:Giunta et al., 1999:10073586}" "" "" "" "Unknown" "" "rs72656357" "0" "" "" "" "" "pathogenic" "" "0000707000" "0" "99" "7" "94030934" "94030934" "subst" "0" "00085" "COL1A2_000230" "g.94030934T>C" "" "{PMID:Melis et al., 2012:23158907}" "" "" "" "Unknown" "" "rs72656357" "0" "" "" "" "" "pathogenic" "" "0000707001" "0" "99" "7" "94030934" "94030934" "subst" "0" "00085" "COL1A2_000460" "g.94030934T>G" "" "{PMID:Klaassens et al., 2011:21801164}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707002" "11" "99" "7" "94032719" "94035101" "del" "0" "00085" "COL1A2_000208" "g.94032719_94035101del" "" "{PMID:Mundlos et al., 1996:8702873}" "" "" "" "Unknown" "" "rs74315105" "0" "" "" "" "" "pathogenic" "" "0000707003" "0" "51" "7" "94033875" "94033875" "subst" "1.21842E-5" "03878" "COL1A2_000583" "g.94033875T>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707004" "0" "99" "7" "94033881" "94033881" "dup" "0" "00085" "COL1A2_000209" "g.94033881dup" "" "{PMID:Malfait et al., 2006:16816023}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707005" "10" "53" "7" "94033892" "94033892" "subst" "0.000597003" "03879" "COL1A2_000559" "g.94033892C>T" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707006" "0" "13" "7" "94033892" "94033892" "subst" "0.000597003" "03879" "COL1A2_000559" "g.94033892C>T" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000707007" "21" "99" "7" "94033904" "94033904" "subst" "4.06118E-6" "03883" "COL1A2_000680" "g.94033904G>A" "" "Morlino et al., submitted 2019" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707008" "0" "99" "7" "94033916" "94033916" "del" "0" "01819" "COL1A2_000479" "g.94033916del" "" "{PMID:Malfait et al., 2013:23692737}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707009" "0" "99" "7" "94034006" "94034006" "subst" "0" "01819" "COL1A2_000463" "g.94034006G>A" "" "{PMID:Malfait et al., 2013:23692737}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707010" "20" "99" "7" "94034006" "94034006" "subst" "0" "03879" "COL1A2_000463" "g.94034006G>A" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707011" "11" "79" "7" "94034006" "94034006" "subst" "0" "03891" "COL1A2_000682" "g.94034006G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707012" "0" "99" "7" "94034015" "94034015" "subst" "0" "00085" "COL1A2_000590" "g.94034015G>A" "" "{PMID:Lin et al., 2015:26627451}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707013" "0" "99" "7" "94034015" "94034015" "subst" "0" "03870" "COL1A2_000432" "g.94034015G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707014" "21" "99" "7" "94034015" "94034015" "subst" "0" "03870" "COL1A2_000432" "g.94034015G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707015" "21" "99" "7" "94034015" "94034015" "subst" "0" "03870" "COL1A2_000432" "g.94034015G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707016" "0" "99" "7" "94034015" "94034015" "subst" "0" "03870" "COL1A2_000432" "g.94034015G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707017" "0" "99" "7" "94034023" "94034023" "subst" "0" "03855" "COL1A2_000396" "g.94034023G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707018" "0" "99" "7" "94034033" "94034033" "subst" "0" "00085" "COL1A2_000001" "g.94034033G>A" "" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "Unknown" "" "rs72656358" "0" "" "" "" "" "pathogenic" "" "0000707019" "0" "99" "7" "94034033" "94034033" "subst" "0" "00085" "COL1A2_000594" "g.94034033G>T" "" "{PMID:Mansfield and Rahme, 2015:26551090}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707020" "0" "99" "7" "94034042" "94034042" "subst" "0" "03853" "COL1A2_000324" "g.94034042G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707021" "0" "99" "7" "94034051" "94034051" "subst" "0" "03704" "COL1A2_000002" "g.94034051G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72656359" "0" "" "" "" "" "pathogenic" "" "0000707022" "0" "99" "7" "94034051" "94034051" "subst" "0" "00085" "COL1A2_000002" "g.94034051G>A" "" "{PMID:Balasubramanian et al., 2015:26471105}" "" "" "" "Unknown" "" "rs72656359" "0" "" "" "" "" "pathogenic" "" "0000707023" "20" "99" "7" "94034051" "94034051" "subst" "0" "03891" "COL1A2_000002" "g.94034051G>A" "" "" "" "" "" "Unknown" "" "rs72656359" "0" "" "" "" "" "pathogenic" "" "0000707024" "0" "99" "7" "94034152" "94034152" "subst" "0" "00085" "COL1A2_000343" "g.94034152G>A" "" "Li, 2009 ASHG Meeting 2009 Program Number: 2630" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707025" "0" "99" "7" "94034152" "94034152" "subst" "0" "03853" "COL1A2_000343" "g.94034152G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707026" "0" "99" "7" "94034161" "94034161" "subst" "0" "00085" "COL1A2_000003" "g.94034161G>A" "" "{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)" "" "" "" "Unknown" "" "rs72656360" "0" "" "" "" "" "pathogenic" "" "0000707027" "0" "99" "7" "94034169" "94034169" "subst" "0" "03704" "COL1A2_000004" "g.94034169G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72656361" "0" "" "" "" "" "pathogenic" "" "0000707028" "0" "79" "7" "94034179" "94034179" "subst" "0" "03881" "COL1A2_000587" "g.94034179G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707029" "0" "99" "7" "94034188" "94034188" "subst" "0" "03855" "COL1A2_000408" "g.94034188G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707030" "0" "99" "7" "94034205" "94034205" "subst" "0" "03870" "COL1A2_000382" "g.94034205G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707031" "0" "99" "7" "94034205" "94034205" "subst" "0" "03870" "COL1A2_000382" "g.94034205G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707032" "0" "99" "7" "94034205" "94034205" "subst" "0" "03891" "COL1A2_000681" "g.94034205G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707033" "0" "99" "7" "94034207" "94034217" "del" "0" "00085" "COL1A2_000231" "g.94034207_94034217del" "" "{PMID:Nicholls et al., 1992:1551666}" "" "" "" "Unknown" "" "rs72656362" "0" "" "" "" "" "pathogenic" "" "0000707034" "0" "99" "7" "94034208" "94034211" "del" "0" "03704" "COL1A2_000232" "g.94034208_94034211del" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72656363" "0" "" "" "" "" "pathogenic" "" "0000707035" "0" "99" "7" "94034208" "94034211" "del" "0" "01819" "COL1A2_000232" "g.94034208_94034211del" "" "{PMID:Malfait et al., 2013:23692737}" "" "" "" "Unknown" "" "rs72656363" "0" "" "" "" "" "pathogenic" "" "0000707036" "0" "99" "7" "94034209" "94034209" "subst" "0" "00085" "COL1A2_000233" "g.94034209G>A" "" "{PMID:Feshchenko et al., 1998:10694924}" "" "" "" "Unknown" "" "rs72656364" "0" "" "" "" "" "pathogenic" "" "0000707037" "0" "99" "7" "94034209" "94034209" "subst" "0" "03704" "COL1A2_000233" "g.94034209G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72656364" "0" "" "" "" "" "pathogenic" "" "0000707038" "0" "99" "7" "94034263" "94038739" "del" "0" "00085" "COL1A2_000210" "g.94034263_94038739del" "" "{PMID:Mundlos et al., 1996:8702873}" "" "" "" "Unknown" "" "rs74315153" "0" "" "" "" "" "pathogenic" "" "0000707039" "0" "99" "7" "94034509" "94034509" "subst" "0" "01819" "COL1A2_000480" "g.94034509A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707040" "0" "99" "7" "94034510" "94034510" "subst" "0" "00085" "COL1A2_000234" "g.94034510G>C" "" "{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)" "" "" "" "Unknown" "" "rs72656365" "0" "" "" "" "" "pathogenic" "" "0000707041" "20" "99" "7" "94034510" "94034510" "subst" "0" "00085" "COL1A2_000234" "g.94034510G>C" "" "{PMID:Balasubramanian et al., 2015:25436829}" "" "" "" "Unknown" "" "rs72656365" "0" "" "" "" "" "pathogenic" "" "0000707042" "0" "99" "7" "94034529" "94034529" "subst" "4.06283E-6" "03896" "COL1A2_000683" "g.94034529G>A" "" "" "" "" "variant may affect RNA splicing" "Germline/De novo (untested)" "" "" "0" "" "" "g.94405217G>A" "" "pathogenic" "" "0000707043" "0" "95" "7" "94034556" "94034556" "subst" "0" "03894" "COL1A2_000650" "g.94034556G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707044" "0" "99" "7" "94034565" "94034565" "subst" "0" "01819" "COL1A2_000481" "g.94034565G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707045" "0" "79" "7" "94034566" "94034566" "subst" "0" "03885" "COL1A2_000602" "g.94034566T>G" "" "{PMID:Bardai et al.,2016:27509835}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707046" "0" "99" "7" "94034980" "94034998" "del" "0" "00085" "COL1A2_000239" "g.94034980_94034998del" "" "{PMID:Kuivaniemi et al., 1988:3403536}" "" "" "" "Unknown" "" "rs74315146" "0" "" "" "" "" "pathogenic" "" "0000707047" "0" "99" "7" "94034995" "94034995" "subst" "0" "03704" "COL1A2_000005" "g.94034995G>T" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72656366" "0" "" "" "" "" "pathogenic" "" "0000707048" "0" "99" "7" "94034995" "94034995" "subst" "0" "00085" "COL1A2_000005" "g.94034995G>T" "" "{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)" "" "" "" "Unknown" "" "rs72656366" "0" "" "" "" "" "pathogenic" "" "0000707049" "21" "99" "7" "94034995" "94034995" "subst" "0" "00475" "COL1A2_000005" "g.94034995G>T" "" "" "" "" "" "Unknown" "" "rs72656366" "0" "" "" "" "" "pathogenic" "" "0000707050" "0" "99" "7" "94035004" "94035004" "subst" "0" "03870" "COL1A2_000341" "g.94035004G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707051" "0" "99" "7" "94035043" "94035043" "subst" "0" "03704" "COL1A2_000259" "g.94035043G>A" "" "{PMID:Schwarze et al., 2004:15077201}" "" "" "" "Unknown" "" "rs72656367" "0" "" "" "" "" "pathogenic" "" "0000707052" "0" "95" "7" "94035560" "94035560" "del" "0" "03894" "COL1A2_000660" "g.94035560del" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707053" "0" "99" "7" "94035565" "94035565" "subst" "0" "00085" "COL1A2_000137" "g.94035565C>G" "" "{PMID:Galicka et al., 2003:12833172}" "" "" "" "Unknown" "" "rs72656368" "0" "" "" "" "" "pathogenic" "" "0000707054" "0" "99" "7" "94035581" "94035581" "subst" "0" "03865" "COL1A2_000493" "g.94035581G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707055" "0" "99" "7" "94035581" "94035581" "subst" "0" "03870" "COL1A2_000493" "g.94035581G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707056" "0" "95" "7" "94035581" "94035581" "subst" "0" "03894" "COL1A2_000493" "g.94035581G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707057" "0" "95" "7" "94035581" "94035581" "subst" "0" "03894" "COL1A2_000658" "g.94035581G>T" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707058" "0" "99" "7" "94035581" "94035581" "subst" "0" "00085" "COL1A2_000658" "g.94035581G>T" "" "{PMID:Usta et al., 2017:28904723}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707059" "0" "95" "7" "94035589" "94035589" "subst" "0" "03894" "COL1A2_000646" "g.94035589G>C" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707060" "21" "99" "7" "94035590" "94035590" "subst" "0" "00475" "COL1A2_000421" "g.94035590G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707061" "0" "95" "7" "94035590" "94035590" "subst" "0" "03894" "COL1A2_000421" "g.94035590G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707062" "0" "99" "7" "94035590" "94035590" "subst" "0" "03870" "COL1A2_000617" "g.94035590G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707063" "0" "99" "7" "94035590" "94035590" "subst" "0" "00085" "COL1A2_000006" "g.94035590G>T" "" "{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)" "" "" "" "Unknown" "" "rs72656369" "0" "" "" "" "" "pathogenic" "" "0000707064" "0" "99" "7" "94035590" "94035590" "subst" "0" "01819" "COL1A2_000006" "g.94035590G>T" "" "" "" "" "" "Unknown" "" "rs72656369" "0" "" "" "" "" "pathogenic" "" "0000707065" "0" "99" "7" "94035598" "94035598" "subst" "4.06187E-6" "00085" "COL1A2_000007" "g.94035598G>A" "" "{PMID:Marini et al., 2007:17078022} (Nuytinck and De Paepe, personal communication)" "" "" "" "Unknown" "" "rs72656370" "0" "" "" "" "" "pathogenic" "" "0000707066" "0" "99" "7" "94035598" "94035598" "subst" "4.06187E-6" "00085" "COL1A2_000007" "g.94035598G>A" "" "{PMID:Venturi et al., 2006:16879195}" "" "" "" "Unknown" "" "rs72656370" "0" "" "" "" "" "pathogenic" "" "0000707067" "0" "99" "7" "94035598" "94035598" "subst" "4.06187E-6" "03855" "COL1A2_000007" "g.94035598G>A" "" "" "" "" "" "Unknown" "" "rs72656370" "0" "" "" "" "" "pathogenic" "" "0000707068" "0" "99" "7" "94035598" "94035598" "subst" "4.06187E-6" "03855" "COL1A2_000007" "g.94035598G>A" "" "" "" "" "" "Unknown" "" "rs72656370" "0" "" "" "" "" "pathogenic" "" "0000707069" "0" "99" "7" "94035598" "94035598" "subst" "4.06187E-6" "03870" "COL1A2_000007" "g.94035598G>A" "" "" "" "" "" "Unknown" "" "rs72656370" "0" "" "" "" "" "pathogenic" "" "0000707070" "0" "99" "7" "94035598" "94035598" "subst" "4.06187E-6" "03870" "COL1A2_000007" "g.94035598G>A" "" "" "" "" "" "Unknown" "" "rs72656370" "0" "" "" "" "" "pathogenic" "" "0000707071" "0" "99" "7" "94035598" "94035598" "subst" "4.06187E-6" "03861" "COL1A2_000007" "g.94035598G>A" "" "" "" "" "" "Unknown" "" "rs72656370" "0" "" "" "" "" "pathogenic" "" "0000707072" "0" "99" "7" "94035598" "94035598" "subst" "4.06187E-6" "03870" "COL1A2_000007" "g.94035598G>A" "" "{PMID:Gentile et al., 2013:22753364}" "" "" "" "Unknown" "" "rs72656370" "0" "" "" "" "" "pathogenic" "" "0000707073" "0" "99" "7" "94035598" "94035598" "subst" "4.06187E-6" "03861" "COL1A2_000007" "g.94035598G>A" "" "" "" "" "" "Unknown" "" "rs72656370" "0" "" "" "" "" "pathogenic" "" "0000707074" "20" "99" "7" "94035598" "94035598" "subst" "4.06187E-6" "03879" "COL1A2_000007" "g.94035598G>A" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "rs72656370" "0" "" "" "" "" "pathogenic" "" "0000707075" "10" "99" "7" "94035598" "94035598" "subst" "4.06187E-6" "03879" "COL1A2_000007" "g.94035598G>A" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "rs72656370" "0" "" "" "" "" "pathogenic" "" "0000707076" "10" "99" "7" "94035598" "94035598" "subst" "4.06187E-6" "03879" "COL1A2_000007" "g.94035598G>A" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "rs72656370" "0" "" "" "" "" "pathogenic" "" "0000707077" "21" "99" "7" "94035598" "94035598" "subst" "4.06187E-6" "03879" "COL1A2_000007" "g.94035598G>A" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "rs72656370" "0" "" "" "" "" "pathogenic" "" "0000707078" "10" "99" "7" "94035598" "94035598" "subst" "4.06187E-6" "03879" "COL1A2_000007" "g.94035598G>A" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "rs72656370" "0" "" "" "" "" "pathogenic" "" "0000707079" "0" "99" "7" "94035598" "94035598" "subst" "4.06187E-6" "03870" "COL1A2_000007" "g.94035598G>A" "" "" "" "" "" "Unknown" "" "rs72656370" "0" "" "" "" "" "pathogenic" "" "0000707080" "0" "99" "7" "94035598" "94035598" "subst" "4.06187E-6" "03870" "COL1A2_000007" "g.94035598G>A" "" "" "" "" "" "Unknown" "" "rs72656370" "0" "" "" "" "" "pathogenic" "" "0000707081" "0" "99" "7" "94035598" "94035598" "subst" "4.06187E-6" "03870" "COL1A2_000007" "g.94035598G>A" "" "" "" "" "" "Unknown" "" "rs72656370" "0" "" "" "" "" "pathogenic" "" "0000707082" "0" "99" "7" "94035598" "94035598" "subst" "4.06187E-6" "00085" "COL1A2_000007" "g.94035598G>A" "" "{PMID:Rolvien et al., 2018:29946973}" "" "" "" "Unknown" "" "rs72656370" "0" "" "" "" "" "pathogenic" "" "0000707083" "0" "99" "7" "94035598" "94035598" "subst" "0" "03870" "COL1A2_000322" "g.94035598G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707084" "0" "95" "7" "94035598" "94035598" "subst" "0" "00085" "COL1A2_000691" "g.94035598G>T" "" "{PMID:Mrosk et al., 2018:29499418}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707085" "0" "99" "7" "94035599" "94035599" "subst" "0" "00085" "COL1A2_000008" "g.94035599G>A" "" "{PMID:Marini et al., 2007:17078022} (Nuytinck and De Paepe, personal communication)" "" "" "" "Unknown" "" "rs72656371" "0" "" "" "" "" "pathogenic" "" "0000707086" "0" "95" "7" "94035599" "94035599" "subst" "0" "03894" "COL1A2_000008" "g.94035599G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs72656371" "0" "" "" "" "" "VUS" "" "0000707087" "21" "99" "7" "94035599" "94035599" "subst" "0" "03872" "COL1A2_000550" "g.94035599G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707088" "0" "99" "7" "94035599" "94035599" "subst" "0" "03894" "COL1A2_000550" "g.94035599G>T" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707089" "21" "51" "7" "94035603" "94035603" "subst" "0.00183995" "03872" "COL1A2_000557" "g.94035603T>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707090" "0" "99" "7" "94035607" "94035607" "subst" "0" "00085" "COL1A2_000457" "g.94035607G>T" "" "{PMID:Zhang et al., 2011:21667357}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707091" "0" "99" "7" "94035608" "94035608" "subst" "0" "03870" "COL1A2_000455" "g.94035608G>A" "" "{PMID:Gentile et al., 2013:22753364}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707092" "0" "99" "7" "94035608" "94035608" "subst" "0" "03870" "COL1A2_000455" "g.94035608G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707093" "0" "99" "7" "94035608" "94035608" "subst" "0" "01819" "COL1A2_000464" "g.94035608G>T" "" "{PMID:Malfait et al., 2013:23692737}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707094" "0" "99" "7" "94035616" "94035634" "del" "0" "03704" "COL1A2_000241" "g.94035616_94035634del" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72656372" "0" "" "" "" "" "pathogenic" "" "0000707095" "0" "99" "7" "94035617" "94035617" "subst" "0" "00085" "COL1A2_000203" "g.94035617T>G" "" "{PMID:Chipman et al., 1992:1642148}" "" "" "" "Unknown" "" "rs72656373" "0" "" "" "" "" "pathogenic" "" "0000707096" "0" "99" "7" "94037156" "94037156" "subst" "0" "00085" "COL1A2_000242" "g.94037156T>A" "" "{PMID:Ward et al., 2001:11317364}" "" "" "" "Unknown" "" "rs72656374" "0" "" "" "" "" "pathogenic" "" "0000707097" "0" "99" "7" "94037157" "94037157" "subst" "0" "00085" "COL1A2_000243" "g.94037157A>G" "" "{PMID:Lee et al., 2006:16705691}" "" "" "" "Unknown" "" "rs72656375" "0" "" "" "" "" "pathogenic" "" "0000707098" "0" "99" "7" "94037157" "94037157" "subst" "0" "00085" "COL1A2_000243" "g.94037157A>G" "" "{DOI:Sagert et al., 2007:10.1055/s-2007-972536}" "" "" "" "Unknown" "" "rs72656375" "0" "" "" "" "" "pathogenic" "" "0000707099" "0" "99" "7" "94037136" "94037560" "del" "0" "03870" "COL1A2_000622" "g.(94035674_94037136)_(94037560_94037601)del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.(94406362_94407824)_(94408248_94408289)del" "" "VUS" "" "0000707100" "0" "99" "7" "94037159" "94037159" "subst" "0" "03885" "COL1A2_000603" "g.94037159G>C" "" "{PMID:Bardai et al.,2016:27509835}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707101" "0" "99" "7" "94037160" "94037160" "subst" "0" "03853" "COL1A2_000286" "g.94037160G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707102" "0" "99" "7" "94037160" "94037160" "subst" "0" "01819" "COL1A2_000465" "g.94037160G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707103" "0" "95" "7" "94037160" "94037160" "subst" "0" "03894" "COL1A2_000465" "g.94037160G>T" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707104" "0" "99" "7" "94037168" "94037168" "subst" "0" "03704" "COL1A2_000009" "g.94037168G>C" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72656376" "0" "" "" "" "" "pathogenic" "" "0000707105" "0" "99" "7" "94037168" "94037168" "subst" "0" "00085" "COL1A2_000009" "g.94037168G>C" "" "{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)" "" "" "" "Unknown" "" "rs72656376" "0" "" "" "" "" "pathogenic" "" "0000707106" "0" "99" "7" "94037168" "94037168" "subst" "0" "00085" "COL1A2_000009" "g.94037168G>C" "" "{PMID:Pollitt et al., 2006:16786509}" "" "" "" "Unknown" "" "rs72656376" "0" "" "" "" "" "pathogenic" "" "0000707107" "20" "79" "7" "94037168" "94037168" "subst" "0" "00475" "COL1A2_000009" "g.94037168G>C" "" "" "" "" "" "Unknown" "" "rs72656376" "0" "" "" "" "" "pathogenic" "" "0000707108" "20" "99" "7" "94037168" "94037168" "subst" "0" "03879" "COL1A2_000009" "g.94037168G>C" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "rs72656376" "0" "" "" "" "" "pathogenic" "" "0000707109" "0" "99" "7" "94037169" "94037169" "subst" "0" "03704" "COL1A2_000010" "g.94037169G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72656377" "0" "" "" "" "" "pathogenic" "" "0000707110" "0" "99" "7" "94037169" "94037169" "subst" "0" "00085" "COL1A2_000010" "g.94037169G>A" "" "{PMID:Roschger et al., 2008:18311573}" "" "" "" "Unknown" "" "rs72656377" "0" "" "" "" "" "pathogenic" "" "0000707111" "0" "99" "7" "94037169" "94037169" "subst" "0" "03872" "COL1A2_000010" "g.94037169G>A" "" "" "" "" "" "Unknown" "" "rs72656377" "0" "" "" "" "" "pathogenic" "" "0000707112" "11" "99" "7" "94037187" "94037187" "subst" "0" "00085" "COL1A2_000575" "g.94037187G>A" "" "{PMID:Takagi et al., 2015:25858481}" "" "[623G>A;704G>A]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000707113" "0" "99" "7" "94037196" "94037196" "subst" "0" "00085" "COL1A2_000011" "g.94037196G>A" "" "{PMID:Marini et al., 2007:17078022} (Marini, personal communication)" "" "" "" "Unknown" "" "rs72656378" "0" "" "" "" "" "pathogenic" "" "0000707114" "0" "99" "7" "94037196" "94037196" "subst" "0" "00085" "COL1A2_000011" "g.94037196G>A" "" "{PMID:Zhuang et al., 1996:8829649}" "" "" "" "Unknown" "" "rs72656378" "0" "" "" "" "" "pathogenic" "" "0000707115" "0" "99" "7" "94037196" "94037196" "subst" "0" "03853" "COL1A2_000325" "g.94037196G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707116" "0" "99" "7" "94037207" "94037225" "del" "0" "00085" "COL1A2_000244" "g.94037207_94037225del" "" "{PMID:Zhuang et al., 1993:7916744}" "" "" "" "Unknown" "" "rs72656379" "0" "" "" "" "" "pathogenic" "" "0000707117" "0" "55" "7" "94037208" "94037228" "del" "0" "03894" "COL1A2_000758" "g.94037208_94037228del" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "effect on splicing predicted from mini gene splicing assay" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707118" "3" "99" "7" "94037168" "94037168" "subst" "0" "00085" "COL1A2_000687" "g.94037168G>A" "" "{PMID:Costantini et al., 2018:29572562}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707119" "0" "99" "7" "94037505" "94037505" "subst" "0" "03853" "COL1A2_000326" "g.94037505G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707120" "0" "99" "7" "94037505" "94037505" "subst" "0" "00085" "COL1A2_000138" "g.94037505G>T" "" "{PMID:Ward et al., 2001:11317364}" "" "" "" "Unknown" "" "rs72656380" "0" "" "" "" "" "pathogenic" "" "0000707121" "11" "99" "7" "94037514" "94037514" "subst" "0" "00085" "COL1A2_000521" "g.94037514G>A" "" "{PMID:Götherström et al., 2013:24342908}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707122" "0" "33" "7" "94037526" "94037526" "subst" "5.68523E-5" "00085" "COL1A2_000589" "g.94037526G>A" "" "{PMID:Brizola et al., 2015:26604951}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "benign" "" "0000707123" "0" "99" "7" "94037549" "94037549" "subst" "0" "00085" "COL1A2_000245" "g.94037549G>A" "" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "Unknown" "" "rs72656381" "0" "" "" "" "" "pathogenic" "" "0000707124" "0" "99" "7" "94037549" "94037549" "subst" "0" "00085" "COL1A2_000245" "g.94037549G>A" "" "{PMID:Stephen et al., 2014:24668929}" "" "" "" "Unknown" "" "rs72656381" "0" "" "" "" "" "pathogenic" "" "0000707125" "0" "99" "7" "94037549" "94037549" "subst" "0" "03870" "COL1A2_000245" "g.94037549G>A" "" "" "" "" "" "Unknown" "" "rs72656381" "0" "" "" "" "" "pathogenic" "" "0000707126" "0" "99" "7" "94037549" "94037549" "subst" "0" "03865" "COL1A2_000494" "g.94037549G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707127" "0" "95" "7" "94037549" "94037549" "subst" "0" "03894" "COL1A2_000494" "g.94037549G>C" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707128" "0" "99" "7" "94037549" "94037549" "subst" "0" "01819" "COL1A2_000482" "g.94037549G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707129" "0" "99" "7" "94037550" "94037550" "subst" "0" "03704" "COL1A2_000247" "g.94037550T>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs66516450" "0" "" "" "" "" "pathogenic" "" "0000707130" "0" "99" "7" "94037550" "94037550" "subst" "0" "03704" "COL1A2_000246" "g.94037550T>C" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs66516450" "0" "" "" "" "" "pathogenic" "" "0000707131" "0" "99" "7" "94037550" "94037550" "subst" "0" "00085" "COL1A2_000246" "g.94037550T>C" "" "{PMID:Trancozo et al., 2019:31429852}" "" "" "" "Unknown" "" "rs66516450" "0" "" "" "" "" "pathogenic" "" "0000707132" "21" "79" "7" "94037551" "94037551" "del" "0" "00475" "COL1A2_000415" "g.94037551del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707133" "0" "99" "7" "94037553" "94037553" "subst" "0" "01819" "COL1A2_000516" "g.94037553G>A" "" "{PMID:Malfait et al., 2013:23692737}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707134" "0" "99" "7" "94037646" "94037646" "subst" "0" "03853" "COL1A2_000288" "g.94037646A>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707135" "0" "99" "7" "94037646" "94037646" "subst" "0" "00085" "COL1A2_000547" "g.94037646A>G" "" "{PMID:Rauch et al., 2014:25086671}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707136" "0" "55" "7" "94037654" "94037654" "subst" "4.06088E-6" "03704" "COL1A2_000293" "g.94037654C>T" "" "{PMID:Bodian et al., 2009:18996919}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707137" "0" "99" "7" "94038080" "94038080" "subst" "0" "03704" "COL1A2_000248" "g.94038080A>G" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72656382" "0" "" "" "" "" "pathogenic" "" "0000707138" "0" "95" "7" "94038080" "94038080" "subst" "0" "03894" "COL1A2_000248" "g.94038080A>G" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs72656382" "0" "" "" "" "" "VUS" "" "0000707139" "0" "95" "7" "94038080" "94038080" "subst" "0" "03894" "COL1A2_000248" "g.94038080A>G" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs72656382" "0" "" "" "" "" "VUS" "" "0000707140" "0" "97" "7" "94038081" "94038081" "subst" "0" "03852" "COL1A2_000280" "g.94038081G>C" "" "" "" "" "" "Unknown" "" "rs72656383" "0" "" "" "" "" "likely pathogenic" "" "0000707141" "20" "93" "7" "94038135" "94038135" "subst" "0" "03872" "COL1A2_000600" "g.94038135G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707142" "0" "99" "7" "94038082" "94038082" "subst" "0" "03855" "COL1A2_000385" "g.94038082G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707143" "0" "99" "7" "94038082" "94038082" "subst" "0" "00085" "COL1A2_000385" "g.94038082G>C" "" "{PMID:Trancozo et al., 2019:31429852}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707144" "0" "99" "7" "94038083" "94038083" "subst" "0" "03704" "COL1A2_000012" "g.94038083G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72656384" "0" "" "" "" "" "pathogenic" "" "0000707145" "0" "99" "7" "94038083" "94038083" "subst" "0" "00085" "COL1A2_000012" "g.94038083G>A" "" "{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)" "" "" "" "Unknown" "" "rs72656384" "0" "" "" "" "" "pathogenic" "" "0000707146" "0" "99" "7" "94038083" "94038083" "subst" "0" "00085" "COL1A2_000012" "g.94038083G>A" "" "{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)" "" "" "" "Unknown" "" "rs72656384" "0" "" "" "" "" "pathogenic" "" "0000707147" "0" "99" "7" "94038083" "94038083" "subst" "0" "00085" "COL1A2_000619" "g.94038083G>T" "" "{PMID:Caparros-Martin et al., 2016:28116328}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707148" "0" "99" "7" "94038101" "94038101" "subst" "0" "03704" "COL1A2_000013" "g.94038101G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication" "" "" "" "Unknown" "" "rs72656385" "0" "" "" "" "" "pathogenic" "" "0000707149" "0" "99" "7" "94038101" "94038101" "subst" "0" "03855" "COL1A2_000013" "g.94038101G>A" "" "" "" "" "" "Unknown" "" "rs72656385" "0" "" "" "" "" "pathogenic" "" "0000707150" "0" "99" "7" "94038101" "94038101" "subst" "0" "03855" "COL1A2_000013" "g.94038101G>A" "" "" "" "" "" "Unknown" "" "rs72656385" "0" "" "" "" "" "pathogenic" "" "0000707151" "0" "95" "7" "94038101" "94038101" "subst" "0" "03894" "COL1A2_000013" "g.94038101G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs72656385" "0" "" "" "" "" "VUS" "" "0000707152" "0" "99" "7" "94038110" "94038110" "subst" "0" "03704" "COL1A2_000014" "g.94038110G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs67525025" "0" "" "" "" "" "pathogenic" "" "0000707153" "21" "99" "7" "94038110" "94038110" "subst" "0" "03872" "COL1A2_000014" "g.94038110G>A" "" "" "" "" "" "Unknown" "" "rs67525025" "0" "" "" "" "" "pathogenic" "" "0000707154" "0" "99" "7" "94038110" "94038110" "subst" "0" "00085" "COL1A2_000015" "g.94038110G>T" "" "{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)" "" "" "" "Unknown" "" "rs67525026" "0" "" "" "" "" "pathogenic" "" "0000707155" "0" "99" "7" "94038110" "94038110" "subst" "0" "00085" "COL1A2_000015" "g.94038110G>T" "" "{PMID:Pollitt et al., 2006:16786509}" "" "" "" "Unknown" "" "rs67525026" "0" "" "" "" "" "pathogenic" "" "0000707156" "0" "99" "7" "94038110" "94038110" "subst" "0" "03891" "COL1A2_000015" "g.94038110G>T" "" "" "" "" "" "Unknown" "" "rs67525026" "0" "" "" "" "" "pathogenic" "" "0000707157" "0" "99" "7" "94038118" "94038118" "subst" "0" "03869" "COL1A2_000511" "g.94038118G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707158" "0" "99" "7" "94038119" "94038119" "subst" "0" "03872" "COL1A2_000577" "g.94038119G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707159" "0" "95" "7" "94038119" "94038119" "subst" "0" "03894" "COL1A2_000577" "g.94038119G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707160" "0" "95" "7" "94038119" "94038119" "subst" "0" "03894" "COL1A2_000577" "g.94038119G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707161" "0" "95" "7" "94038135" "94038135" "subst" "0" "03894" "COL1A2_000759" "g.94038135G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "effect on splicing predicted from mini gene splicing assay" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707162" "0" "99" "7" "94038136" "94038136" "subst" "0" "00085" "COL1A2_000249" "g.94038136G>A" "" "{PMID:Filie et al., 1993:8257992}" "" "" "" "Unknown" "" "rs66496932" "0" "" "" "" "" "pathogenic" "" "0000707163" "0" "99" "7" "94038136" "94038136" "subst" "0" "00085" "COL1A2_000249" "g.94038136G>A" "" "{PMID:Ho Duy et al., 2016:27519266}" "" "" "" "Unknown" "" "rs66496932" "0" "" "" "" "" "pathogenic" "" "0000707164" "10" "99" "7" "94038136" "94038136" "subst" "0" "00085" "COL1A2_000250" "g.94038136G>T" "" "{PMID:Ward et al., 2001:11317364}" "" "" "" "Unknown" "" "rs66496932" "0" "" "" "" "" "pathogenic" "" "0000707165" "0" "99" "7" "94038137" "94038137" "subst" "0" "00085" "COL1A2_000252" "g.94038137T>A" "" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "Unknown" "" "rs67533199" "0" "" "" "" "" "pathogenic" "" "0000707166" "0" "99" "7" "94038137" "94038137" "subst" "0" "00085" "COL1A2_000252" "g.94038137T>A" "" "{PMID:Zhang et al., 2011:21667357}" "" "" "" "Unknown" "" "rs67533199" "0" "" "" "" "" "pathogenic" "" "0000707167" "0" "99" "7" "94038137" "94038137" "subst" "0" "00085" "COL1A2_000251" "g.94038137T>C" "" "{PMID:Zolezzi et al., 1995:8535451}" "" "" "" "Unknown" "" "rs67533198" "0" "" "" "" "" "pathogenic" "" "0000707168" "0" "95" "7" "94038137" "94038137" "subst" "0" "03894" "COL1A2_000251" "g.94038137T>C" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs67533198" "0" "" "" "" "" "VUS" "" "0000707169" "21" "99" "7" "94038138" "94038138" "subst" "0" "03872" "COL1A2_000571" "g.94038138A>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707170" "0" "95" "7" "94038138" "94038138" "subst" "0" "03894" "COL1A2_000571" "g.94038138A>T" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "effect on splicing predicted from mini gene splicing assay" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707171" "10" "99" "7" "94038634" "94038634" "subst" "0" "03869" "COL1A2_000514" "g.94038634G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707172" "21" "99" "7" "94038634" "94038634" "subst" "0" "03879" "COL1A2_000514" "g.94038634G>C" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707173" "0" "99" "7" "94038634" "94038634" "subst" "0" "03879" "COL1A2_000514" "g.94038634G>C" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707174" "0" "99" "7" "94038635" "94038635" "subst" "0" "00085" "COL1A2_000139" "g.94038635G>A" "" "{PMID:Lund et al., 1997:9240878}" "" "" "" "Unknown" "" "rs72656386" "0" "" "" "" "" "pathogenic" "" "0000707175" "0" "99" "7" "94038635" "94038635" "subst" "0" "03853" "COL1A2_000139" "g.94038635G>A" "" "" "" "" "" "Unknown" "" "rs72656386" "0" "" "" "" "" "pathogenic" "" "0000707176" "0" "99" "7" "94038635" "94038635" "subst" "0" "03865" "COL1A2_000139" "g.94038635G>A" "" "" "" "" "" "Unknown" "" "rs72656386" "0" "" "" "" "" "pathogenic" "" "0000707177" "0" "99" "7" "94038635" "94038635" "subst" "0" "03865" "COL1A2_000139" "g.94038635G>A" "" "" "" "" "" "Unknown" "" "rs72656386" "0" "" "" "" "" "pathogenic" "" "0000707178" "0" "99" "7" "94038635" "94038635" "subst" "0" "03879" "COL1A2_000139" "g.94038635G>A" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "rs72656386" "0" "" "" "" "" "pathogenic" "" "0000707179" "0" "95" "7" "94038635" "94038635" "subst" "0" "03894" "COL1A2_000139" "g.94038635G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs72656386" "0" "" "" "" "" "VUS" "" "0000707180" "0" "95" "7" "94038643" "94038643" "subst" "0" "03894" "COL1A2_000668" "g.94038643G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707181" "0" "99" "7" "94038643" "94038643" "subst" "0" "03853" "COL1A2_000287" "g.94038643G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707182" "0" "99" "7" "94038644" "94038644" "subst" "0" "03853" "COL1A2_000291" "g.94038644G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707183" "0" "51" "7" "94038649" "94038649" "subst" "0.00124667" "00085" "COL1A2_000348" "g.94038649G>A" "" "" "" "" "" "Unknown" "" "rs368468" "0" "" "" "" "" "VUS" "" "0000707184" "11" "99" "7" "94038652" "94038652" "subst" "0" "03870" "COL1A2_000282" "g.94038652G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707185" "0" "99" "7" "94038652" "94038652" "subst" "0" "03870" "COL1A2_000282" "g.94038652G>C" "" "{PMID:Gentile et al., 2013:22753364}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707186" "0" "99" "7" "94038652" "94038652" "subst" "0" "03865" "COL1A2_000282" "g.94038652G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707187" "0" "99" "7" "94038652" "94038652" "subst" "0" "03870" "COL1A2_000282" "g.94038652G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707188" "0" "99" "7" "94038652" "94038652" "subst" "0" "03870" "COL1A2_000282" "g.94038652G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707189" "0" "99" "7" "94038652" "94038652" "subst" "0" "03870" "COL1A2_000282" "g.94038652G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707190" "0" "99" "7" "94038652" "94038652" "subst" "0" "03870" "COL1A2_000282" "g.94038652G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707191" "0" "95" "7" "94038652" "94038652" "subst" "0" "03894" "COL1A2_000282" "g.94038652G>C" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707192" "0" "99" "7" "94038652" "94038652" "subst" "0" "00085" "COL1A2_000599" "g.94038652G>T" "" "{PMID:Árvai et al., 2016:27335225}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707193" "0" "99" "7" "94038653" "94038653" "subst" "0" "00085" "COL1A2_000734" "g.94038653G>A" "" "{PMID:Zhang et al., 2017:27748872}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707194" "0" "95" "7" "94038661" "94038661" "subst" "0" "03894" "COL1A2_000675" "g.94038661G>T" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707195" "0" "99" "7" "94038662" "94038662" "subst" "0" "00085" "COL1A2_000140" "g.94038662G>A" "" "{PMID:Ward et al., 2001:11317364}" "" "" "" "Unknown" "" "rs67675951" "0" "" "" "" "" "pathogenic" "" "0000707196" "0" "99" "7" "94038662" "94038662" "subst" "0" "03853" "COL1A2_000140" "g.94038662G>A" "" "" "" "" "" "Unknown" "" "rs67675951" "0" "" "" "" "" "pathogenic" "" "0000707197" "11" "99" "7" "94038662" "94038662" "subst" "0" "00085" "COL1A2_000140" "g.94038662G>A" "" "{PMID:Shaheen et al., 2012:23054245}" "" "" "" "Unknown" "" "rs67675951" "0" "" "" "" "" "pathogenic" "" "0000707198" "0" "99" "7" "94038662" "94038662" "subst" "0" "00085" "COL1A2_000016" "g.94038662G>T" "" "{PMID:Marini et al., 2007:17078022} (Marini and Barnes, personal communication)" "" "" "" "Unknown" "" "rs67675952" "0" "" "" "" "" "pathogenic" "" "0000707199" "0" "99" "7" "94038666" "94038674" "dup" "0" "03870" "COL1A2_000433" "g.94038666_94038674dup" "" "{PMID:Gentile et al., 2013:22753364}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707200" "0" "99" "7" "94038670" "94038670" "subst" "0" "03870" "COL1A2_000345" "g.94038670G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707201" "0" "99" "7" "94038670" "94038670" "subst" "0" "03870" "COL1A2_000345" "g.94038670G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707202" "0" "95" "7" "94038670" "94038670" "subst" "0" "03894" "COL1A2_000345" "g.94038670G>C" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707203" "0" "59" "7" "94038670" "94038670" "subst" "0" "00475" "COL1A2_000416" "g.94038670G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707204" "0" "99" "7" "94038679" "94038679" "subst" "8.12137E-6" "03704" "COL1A2_000017" "g.94038679G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72656387" "0" "" "" "" "" "pathogenic" "" "0000707205" "0" "99" "7" "94038679" "94038679" "subst" "8.12137E-6" "03704" "COL1A2_000017" "g.94038679G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72656387" "0" "" "" "" "" "pathogenic" "" "0000707206" "0" "99" "7" "94038679" "94038679" "subst" "8.12137E-6" "00085" "COL1A2_000017" "g.94038679G>A" "" "{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)" "" "" "" "Unknown" "" "rs72656387" "0" "" "" "" "" "pathogenic" "" "0000707207" "0" "99" "7" "94038679" "94038679" "subst" "8.12137E-6" "00085" "COL1A2_000017" "g.94038679G>A" "" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "Unknown" "" "rs72656387" "0" "" "" "" "" "pathogenic" "" "0000707208" "0" "99" "7" "94038679" "94038679" "subst" "8.12137E-6" "00085" "COL1A2_000017" "g.94038679G>A" "" "{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)" "" "" "" "Unknown" "" "rs72656387" "0" "" "" "" "" "pathogenic" "" "0000707209" "0" "99" "7" "94038679" "94038679" "subst" "8.12137E-6" "00085" "COL1A2_000017" "g.94038679G>A" "" "{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)" "" "" "" "Unknown" "" "rs72656387" "0" "" "" "" "" "pathogenic" "" "0000707210" "0" "99" "7" "94038679" "94038679" "subst" "8.12137E-6" "00085" "COL1A2_000017" "g.94038679G>A" "" "{PMID:Marini et al., 2007:17078022} (Marini and Barnes, personal communication)" "" "" "" "Unknown" "" "rs72656387" "0" "" "" "" "" "pathogenic" "" "0000707211" "0" "99" "7" "94038679" "94038679" "subst" "8.12137E-6" "00085" "COL1A2_000017" "g.94038679G>A" "" "{PMID:Roschger et al., 2008:18311573}" "" "" "" "Unknown" "" "rs72656387" "0" "" "" "" "" "pathogenic" "" "0000707212" "0" "99" "7" "94038679" "94038679" "subst" "8.12137E-6" "00085" "COL1A2_000017" "g.94038679G>A" "" "{PMID:Roschger et al., 2008:18311573}" "" "" "" "Unknown" "" "rs72656387" "0" "" "" "" "" "pathogenic" "" "0000707213" "0" "99" "7" "94038679" "94038679" "subst" "8.12137E-6" "03702" "COL1A2_000017" "g.94038679G>A" "" "" "" "" "" "Unknown" "" "rs72656387" "0" "" "" "" "" "pathogenic" "" "0000707214" "0" "99" "7" "94038679" "94038679" "subst" "8.12137E-6" "03853" "COL1A2_000017" "g.94038679G>A" "" "" "" "" "" "Unknown" "" "rs72656387" "0" "" "" "" "" "pathogenic" "" "0000707215" "0" "99" "7" "94038679" "94038679" "subst" "8.12137E-6" "03855" "COL1A2_000017" "g.94038679G>A" "" "" "" "" "" "Unknown" "" "rs72656387" "0" "" "" "" "" "pathogenic" "" "0000707216" "0" "99" "7" "94038679" "94038679" "subst" "8.12137E-6" "03855" "COL1A2_000017" "g.94038679G>A" "" "" "" "" "" "Unknown" "" "rs72656387" "0" "" "" "" "" "pathogenic" "" "0000707217" "0" "99" "7" "94038679" "94038679" "subst" "8.12137E-6" "00475" "COL1A2_000017" "g.94038679G>A" "" "" "" "" "" "Unknown" "" "rs72656387" "0" "" "" "" "" "pathogenic" "" "0000707218" "0" "99" "7" "94038679" "94038679" "subst" "8.12137E-6" "03702" "COL1A2_000017" "g.94038679G>A" "" "" "" "" "" "Unknown" "" "rs72656387" "0" "" "" "" "" "pathogenic" "" "0000707219" "0" "99" "7" "94038679" "94038679" "subst" "8.12137E-6" "03870" "COL1A2_000017" "g.94038679G>A" "" "" "" "" "" "Unknown" "" "rs72656387" "0" "" "" "" "" "pathogenic" "" "0000707220" "0" "99" "7" "94038679" "94038679" "subst" "8.12137E-6" "00085" "COL1A2_000017" "g.94038679G>A" "" "{PMID:Zhang et al., 2011:21667357}" "" "" "" "Unknown" "" "rs72656387" "0" "" "" "" "" "pathogenic" "" "0000707221" "0" "99" "7" "94038679" "94038679" "subst" "8.12137E-6" "01819" "COL1A2_000017" "g.94038679G>A" "" "" "" "" "" "Unknown" "" "rs72656387" "0" "" "" "" "" "pathogenic" "" "0000707222" "0" "99" "7" "94038679" "94038679" "subst" "8.12137E-6" "03865" "COL1A2_000017" "g.94038679G>A" "" "" "" "" "" "Unknown" "" "rs72656387" "0" "" "" "" "" "pathogenic" "" "0000707223" "0" "99" "7" "94038679" "94038679" "subst" "8.12137E-6" "00085" "COL1A2_000017" "g.94038679G>A" "" "{PMID:Rauch et al., 2014:25086671}" "" "" "" "Unknown" "" "rs72656387" "0" "" "" "" "" "pathogenic" "" "0000707224" "0" "99" "7" "94038679" "94038679" "subst" "8.12137E-6" "03879" "COL1A2_000017" "g.94038679G>A" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "rs72656387" "0" "" "" "" "" "pathogenic" "" "0000707225" "11" "99" "7" "94038679" "94038679" "subst" "8.12137E-6" "03872" "COL1A2_000017" "g.94038679G>A" "" "" "" "" "" "Unknown" "" "rs72656387" "0" "" "" "" "" "pathogenic" "" "0000707226" "0" "99" "7" "94038679" "94038679" "subst" "8.12137E-6" "03872" "COL1A2_000017" "g.94038679G>A" "" "" "" "" "" "Unknown" "" "rs72656387" "0" "" "" "" "" "pathogenic" "" "0000707227" "0" "99" "7" "94038679" "94038679" "subst" "8.12137E-6" "03894" "COL1A2_000017" "g.94038679G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs72656387" "0" "" "" "" "" "pathogenic" "" "0000707228" "0" "99" "7" "94038679" "94038679" "subst" "8.12137E-6" "03894" "COL1A2_000017" "g.94038679G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs72656387" "0" "" "" "" "" "pathogenic" "" "0000707229" "0" "95" "7" "94038679" "94038679" "subst" "8.12137E-6" "03894" "COL1A2_000017" "g.94038679G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs72656387" "0" "" "" "" "" "VUS" "" "0000707230" "0" "95" "7" "94038679" "94038679" "subst" "0" "03894" "COL1A2_000649" "g.94038679G>C" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707231" "0" "99" "7" "94038679" "94038679" "subst" "0" "00085" "COL1A2_000636" "g.94038679G>T" "" "{PMID:Ho Duy et al., 2016:27519266}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707232" "0" "99" "7" "94038688" "94038688" "subst" "0" "03865" "COL1A2_000495" "g.94038688G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707233" "0" "99" "7" "94038688" "94038688" "subst" "0" "03704" "COL1A2_000294" "g.94038688G>C" "" "{PMID:Bodian et al., 2009:18996919}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707234" "0" "99" "7" "94038689" "94038689" "subst" "0" "00085" "COL1A2_000541" "g.94038689G>T" "" "{PMID:Rauch et al., 2014:25086671}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707235" "0" "99" "7" "94038697" "94038697" "subst" "0" "03879" "COL1A2_000564" "g.94038697G>A" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707236" "0" "99" "7" "94038697" "94038697" "subst" "0" "03870" "COL1A2_000564" "g.94038697G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707237" "0" "95" "7" "94038697" "94038697" "subst" "0" "03894" "COL1A2_000564" "g.94038697G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707238" "0" "99" "7" "94038698" "94038698" "subst" "0" "00085" "COL1A2_000141" "g.94038698G>C" "" "{PMID:Ward et al., 2001:11317364}" "" "" "" "Unknown" "" "rs67210353" "0" "" "" "" "" "pathogenic" "" "0000707239" "0" "99" "7" "94038698" "94038698" "subst" "0" "00085" "COL1A2_000018" "g.94038698G>T" "" "{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)" "" "" "" "Unknown" "" "rs67210352" "0" "" "" "" "" "pathogenic" "" "0000707240" "0" "99" "7" "94038698" "94038698" "subst" "0" "03855" "COL1A2_000018" "g.94038698G>T" "" "" "" "" "" "Unknown" "" "rs67210352" "0" "" "" "" "" "pathogenic" "" "0000707241" "0" "99" "7" "94038706" "94038706" "subst" "0" "03870" "COL1A2_000425" "g.94038706G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707242" "0" "99" "7" "94038706" "94038706" "subst" "0" "03865" "COL1A2_000425" "g.94038706G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707243" "0" "99" "7" "94038706" "94038706" "subst" "0" "03897" "COL1A2_000425" "g.94038706G>A" "" "{PMID:Zhytnik 2017:28810924}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000707244" "0" "99" "7" "94038707" "94038707" "subst" "0" "03855" "COL1A2_000407" "g.94038707G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707245" "0" "99" "7" "94038707" "94038707" "subst" "0" "00085" "COL1A2_000142" "g.94038707G>C" "" "Krakow et al. 1996 {Localkrakow_et_al_1996.pdf:View abstract}" "" "" "" "Unknown" "" "rs67031202" "0" "" "" "" "" "pathogenic" "" "0000707246" "0" "99" "7" "94038707" "94038707" "subst" "0" "00085" "COL1A2_000019" "g.94038707G>T" "" "{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)" "" "" "" "Unknown" "" "rs67031201" "0" "" "" "" "" "pathogenic" "" "0000707247" "20" "99" "7" "94038715" "94038715" "subst" "0" "03879" "COL1A2_000562" "g.94038715G>A" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707248" "20" "99" "7" "94038715" "94038715" "subst" "0" "03879" "COL1A2_000562" "g.94038715G>A" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707249" "0" "99" "7" "94038715" "94038715" "subst" "0" "00085" "COL1A2_000562" "g.94038715G>A" "" "{PMID:Ho Duy et al., 2016:27519266}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707250" "0" "99" "7" "94038715" "94038715" "subst" "0" "00085" "COL1A2_000562" "g.94038715G>A" "" "{PMID:Rolvien et al., 2018:29946973}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707251" "0" "99" "7" "94038715" "94038715" "subst" "0" "00085" "COL1A2_000562" "g.94038715G>A" "" "{PMID:Rolvien et al., 2018:29946973}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707252" "0" "99" "7" "94038715" "94038715" "subst" "0" "00085" "COL1A2_000562" "g.94038715G>A" "" "{PMID:Rolvien et al., 2018:29946973}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707253" "0" "95" "7" "94038716" "94038716" "subst" "0" "03894" "COL1A2_000651" "g.94038716G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707254" "0" "95" "7" "94038716" "94038716" "subst" "0" "03894" "COL1A2_000651" "g.94038716G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707255" "0" "99" "7" "94038716" "94038716" "subst" "0" "00085" "COL1A2_000651" "g.94038716G>A" "" "{PMID:Mrosk et al., 2018:29499418}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707256" "0" "75" "7" "94038721" "94038721" "subst" "0.000125882" "03890" "COL1A2_000639" "g.94038721G>T" "" "E. Mornet, personal communication" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707257" "20" "99" "7" "94038724" "94038724" "subst" "0" "03872" "COL1A2_000601" "g.94038724G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707258" "0" "99" "7" "94038725" "94038725" "subst" "0" "00085" "COL1A2_000020" "g.94038725G>T" "" "{PMID:Marini et al., 2007:17078022} (Cohn, King and Krakow, personal communication)" "" "" "" "Unknown" "" "rs72656388" "0" "" "" "" "" "pathogenic" "" "0000707259" "0" "33" "7" "94038809" "94038809" "subst" "0" "00085" "COL1A2_000485" "g.94038809A>T" "" "{PMID:Fuccio et al., 2011:21884818}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "benign" "" "0000707260" "0" "95" "7" "94038876" "94038876" "subst" "0" "03894" "COL1A2_000760" "g.94038876G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707261" "0" "99" "7" "94038876" "94038876" "subst" "0" "00085" "COL1A2_000143" "g.94038876G>C" "" "{PMID:Ward et al., 2001:11317364}" "" "" "" "Unknown" "" "rs72656389" "0" "" "" "" "" "pathogenic" "" "0000707262" "0" "99" "7" "94038876" "94038876" "subst" "0" "00085" "COL1A2_000637" "g.94038876G>T" "" "{PMID:Ho Duy et al., 2016:27519266}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707263" "0" "99" "7" "94038885" "94038885" "subst" "0" "00085" "COL1A2_000530" "g.94038885G>A" "" "{PMID:Lin et al., 2014:24486247}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707264" "0" "99" "7" "94038894" "94038894" "subst" "0" "00085" "COL1A2_000321" "g.94038894G>A" "" "{PMID:Kaux et al., 2009:19317096}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707265" "0" "99" "7" "94038894" "94038894" "subst" "0" "03870" "COL1A2_000321" "g.94038894G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707266" "0" "99" "7" "94038894" "94038894" "subst" "0" "03870" "COL1A2_000321" "g.94038894G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707267" "0" "99" "7" "94038894" "94038894" "subst" "0" "03870" "COL1A2_000321" "g.94038894G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707268" "0" "99" "7" "94038894" "94038894" "subst" "0" "03870" "COL1A2_000321" "g.94038894G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707269" "0" "99" "7" "94038894" "94038894" "subst" "0" "01819" "COL1A2_000466" "g.94038894G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707270" "0" "99" "7" "94038904" "94038904" "subst" "0" "00085" "COL1A2_000021" "g.94038904G>A" "" "{PMID:Marini et al., 2007:17078022} (Marini and Cabral, personal communication)" "" "" "" "Unknown" "" "rs72656390" "0" "" "" "" "" "pathogenic" "" "0000707271" "0" "95" "7" "94038912" "94038912" "subst" "0" "03894" "COL1A2_000665" "g.94038912G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707272" "0" "99" "7" "94038912" "94038912" "subst" "0" "00085" "COL1A2_000022" "g.94038912G>C" "" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "Unknown" "" "rs72656391" "0" "" "" "" "" "pathogenic" "" "0000707273" "21" "73" "7" "94039032" "94039032" "subst" "0.775211" "00475" "COL1A2_000417" "g.94039032C>T" "" "" "" "" "" "Unknown" "" "rs42519" "0" "" "" "" "" "VUS" "" "0000707274" "21" "53" "7" "94039032" "94039032" "subst" "0.775211" "03872" "COL1A2_000417" "g.94039032C>T" "" "" "" "" "" "Unknown" "" "rs42519" "0" "" "" "" "" "VUS" "" "0000707275" "0" "93" "7" "94039032" "94039032" "subst" "0.775211" "00085" "COL1A2_000417" "g.94039032C>T" "" "{PMID:Wang et al., 2015:25742658} {PMID:Wang et al., 2015:25933069}" "" "" "" "Unknown" "" "rs42519" "0" "" "" "" "" "VUS" "" "0000707276" "0" "99" "7" "94039035" "94039035" "subst" "0" "03853" "COL1A2_000327" "g.94039035G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707277" "0" "59" "7" "94039044" "94039044" "subst" "0" "00475" "COL1A2_000418" "g.94039044G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707278" "0" "99" "7" "94039044" "94039044" "subst" "0" "03870" "COL1A2_000418" "g.94039044G>A" "" "{PMID:Gentile et al., 2013:22753364}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707279" "0" "99" "7" "94039044" "94039044" "subst" "0" "03870" "COL1A2_000418" "g.94039044G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707280" "0" "99" "7" "94039044" "94039044" "subst" "0" "00085" "COL1A2_000418" "g.94039044G>A" "" "{PMID:Zhang et al., 2017:27748872}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707281" "0" "99" "7" "94039044" "94039044" "subst" "0" "00085" "COL1A2_000023" "g.94039044G>C" "" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "Unknown" "" "rs72656392" "0" "" "" "" "" "pathogenic" "" "0000707282" "11" "99" "7" "94039044" "94039044" "subst" "0" "00085" "COL1A2_000570" "g.94039044G>T" "" "{PMID:Rong et al., 2015:25608812}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707283" "0" "51" "7" "94039046" "94039046" "subst" "0.00777398" "00085" "COL1A2_000349" "g.94039046C>T" "" "" "" "" "" "Unknown" "" "rs34511999" "0" "" "" "" "" "VUS" "" "0000707284" "21" "51" "7" "94039046" "94039046" "subst" "0.00777398" "03872" "COL1A2_000349" "g.94039046C>T" "" "" "" "" "" "Unknown" "" "rs34511999" "0" "" "" "" "" "VUS" "" "0000707285" "0" "99" "7" "94039053" "94039053" "subst" "0" "00085" "COL1A2_000148" "g.94039053G>A" "" "{PMID:Pollitt et al., 2006:16786509}" "" "" "" "Unknown" "" "rs72656393" "0" "" "" "" "" "pathogenic" "" "0000707286" "0" "99" "7" "94039053" "94039053" "subst" "0" "03865" "COL1A2_000496" "g.94039053G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707287" "0" "95" "7" "94039060" "94039077" "dup" "0" "03894" "COL1A2_000659" "g.94039060_94039077dup" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707288" "0" "99" "7" "94039062" "94039062" "subst" "0" "00085" "COL1A2_000144" "g.94039062G>A" "" "{PMID:Hartikka et al., 2004:15241796}" "" "" "" "Unknown" "" "rs72656394" "0" "" "" "" "" "pathogenic" "" "0000707289" "0" "99" "7" "94039062" "94039062" "subst" "0" "03855" "COL1A2_000144" "g.94039062G>A" "" "" "" "" "" "Unknown" "" "rs72656394" "0" "" "" "" "" "pathogenic" "" "0000707290" "21" "59" "7" "94039062" "94039062" "subst" "0" "03892" "COL1A2_000144" "g.94039062G>A" "" "" "" "" "" "Unknown" "" "rs72656394" "0" "" "" "" "" "pathogenic" "" "0000707291" "0" "99" "7" "94039062" "94039062" "subst" "0" "03894" "COL1A2_000144" "g.94039062G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs72656394" "0" "" "" "" "" "pathogenic" "" "0000707292" "0" "99" "7" "94039072" "94039072" "subst" "0" "00085" "COL1A2_000024" "g.94039072G>A" "" "{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)" "" "" "" "Unknown" "" "rs72656395" "0" "" "" "" "" "pathogenic" "" "0000707293" "0" "99" "7" "94039072" "94039072" "subst" "0" "00085" "COL1A2_000024" "g.94039072G>A" "" "{PMID:Lee et al., 2006:16705691}" "" "" "" "Unknown" "" "rs72656395" "0" "" "" "" "" "pathogenic" "" "0000707294" "0" "11" "7" "94039073" "94039073" "subst" "0.000784527" "03704" "COL1A2_000310" "g.94039073A>T" "" "{PMID:Bodian et al., 2009:18996919}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000707295" "0" "99" "7" "94039080" "94039080" "subst" "0" "00085" "COL1A2_000025" "g.94039080G>A" "" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "pathogenic" "" "0000707296" "0" "99" "7" "94039080" "94039080" "subst" "0" "00085" "COL1A2_000025" "g.94039080G>A" "" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "pathogenic" "" "0000707297" "0" "99" "7" "94039080" "94039080" "subst" "0" "00085" "COL1A2_000025" "g.94039080G>A" "" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "pathogenic" "" "0000707298" "0" "99" "7" "94039080" "94039080" "subst" "0" "00085" "COL1A2_000025" "g.94039080G>A" "" "{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "pathogenic" "" "0000707299" "0" "99" "7" "94039080" "94039080" "subst" "0" "03704" "COL1A2_000025" "g.94039080G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "pathogenic" "" "0000707300" "0" "99" "7" "94039080" "94039080" "subst" "0" "03704" "COL1A2_000025" "g.94039080G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "pathogenic" "" "0000707301" "0" "99" "7" "94039080" "94039080" "subst" "0" "03704" "COL1A2_000025" "g.94039080G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "pathogenic" "" "0000707302" "0" "99" "7" "94039080" "94039080" "subst" "0" "03704" "COL1A2_000025" "g.94039080G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "pathogenic" "" "0000707303" "0" "99" "7" "94039080" "94039080" "subst" "0" "03704" "COL1A2_000025" "g.94039080G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "pathogenic" "" "0000707304" "0" "99" "7" "94039080" "94039080" "subst" "0" "03704" "COL1A2_000025" "g.94039080G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "pathogenic" "" "0000707305" "0" "99" "7" "94039080" "94039080" "subst" "0" "03704" "COL1A2_000025" "g.94039080G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "pathogenic" "" "0000707306" "0" "99" "7" "94039080" "94039080" "subst" "0" "03704" "COL1A2_000025" "g.94039080G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "pathogenic" "" "0000707307" "0" "99" "7" "94039080" "94039080" "subst" "0" "00085" "COL1A2_000025" "g.94039080G>A" "" "{PMID:Marini et al., 2007:17078022} (Marini and Cabral, personal communication)" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "pathogenic" "" "0000707308" "0" "99" "7" "94039080" "94039080" "subst" "0" "00085" "COL1A2_000025" "g.94039080G>A" "" "{PMID:Marini et al., 2007:17078022} (Marini, personal communication)" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "pathogenic" "" "0000707309" "0" "99" "7" "94039080" "94039080" "subst" "0" "00085" "COL1A2_000025" "g.94039080G>A" "" "{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "pathogenic" "" "0000707310" "0" "99" "7" "94039080" "94039080" "subst" "0" "00085" "COL1A2_000025" "g.94039080G>A" "" "{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "pathogenic" "" "0000707311" "0" "99" "7" "94039080" "94039080" "subst" "0" "00085" "COL1A2_000025" "g.94039080G>A" "" "{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "pathogenic" "" "0000707312" "0" "99" "7" "94039080" "94039080" "subst" "0" "00085" "COL1A2_000025" "g.94039080G>A" "" "{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "pathogenic" "" "0000707313" "0" "99" "7" "94039080" "94039080" "subst" "0" "00085" "COL1A2_000025" "g.94039080G>A" "" "{PMID:Rose et al., 1995:7860070}" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "pathogenic" "" "0000707314" "0" "99" "7" "94039080" "94039080" "subst" "0" "03704" "COL1A2_000025" "g.94039080G>A" "" "{PMID:Pepin et al., 1997:9203215}" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "pathogenic" "" "0000707315" "0" "99" "7" "94039080" "94039080" "subst" "0" "00085" "COL1A2_000025" "g.94039080G>A" "" "{PMID:Nuytinck et al., 1997:9272740}" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "pathogenic" "" "0000707316" "0" "99" "7" "94039080" "94039080" "subst" "0" "00085" "COL1A2_000025" "g.94039080G>A" "" "{PMID:Nuytinck et al., 1997:9272740}" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "pathogenic" "" "0000707317" "0" "99" "7" "94039080" "94039080" "subst" "0" "00085" "COL1A2_000025" "g.94039080G>A" "" "{PMID:Lund et al., 1998:9594376}" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "pathogenic" "" "0000707318" "0" "99" "7" "94039080" "94039080" "subst" "0" "00085" "COL1A2_000025" "g.94039080G>A" "" "{OLDASHG00:2332:Reid et al., 2000}" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "pathogenic" "" "0000707319" "0" "99" "7" "94039080" "94039080" "subst" "0" "00085" "COL1A2_000025" "g.94039080G>A" "" "{PMID:Lee et al., 2006:16705691}" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "pathogenic" "" "0000707320" "0" "99" "7" "94039080" "94039080" "subst" "0" "00085" "COL1A2_000025" "g.94039080G>A" "" "{PMID:Lee et al., 2006:16705691}" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "pathogenic" "" "0000707321" "0" "99" "7" "94039080" "94039080" "subst" "0" "00085" "COL1A2_000025" "g.94039080G>A" "" "{PMID:Lee et al., 2006:16705691}" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "pathogenic" "" "0000707322" "0" "99" "7" "94039080" "94039080" "subst" "0" "00085" "COL1A2_000025" "g.94039080G>A" "" "{PMID:Lee et al., 2006:16705691}" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "pathogenic" "" "0000707323" "0" "99" "7" "94039080" "94039080" "subst" "0" "00085" "COL1A2_000025" "g.94039080G>A" "" "{PMID:Lee et al., 2006:16705691}" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "pathogenic" "" "0000707324" "0" "99" "7" "94039080" "94039080" "subst" "0" "00085" "COL1A2_000025" "g.94039080G>A" "" "{PMID:Kataoka et al., 2007:17875077}" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "pathogenic" "" "0000707325" "0" "99" "7" "94039080" "94039080" "subst" "0" "03853" "COL1A2_000025" "g.94039080G>A" "" "" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "pathogenic" "" "0000707326" "0" "99" "7" "94039080" "94039080" "subst" "0" "00085" "COL1A2_000025" "g.94039080G>A" "" "{PMID:Zhang et al., 2011:21667357}" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "pathogenic" "" "0000707327" "0" "99" "7" "94039080" "94039080" "subst" "0" "01819" "COL1A2_000025" "g.94039080G>A" "" "" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "pathogenic" "" "0000707328" "0" "99" "7" "94039080" "94039080" "subst" "0" "03865" "COL1A2_000025" "g.94039080G>A" "" "" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "pathogenic" "" "0000707329" "0" "99" "7" "94039080" "94039080" "subst" "0" "03865" "COL1A2_000025" "g.94039080G>A" "" "" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "pathogenic" "" "0000707330" "0" "99" "7" "94039080" "94039080" "subst" "0" "03865" "COL1A2_000025" "g.94039080G>A" "" "" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "pathogenic" "" "0000707331" "0" "99" "7" "94039080" "94039080" "subst" "0" "03865" "COL1A2_000025" "g.94039080G>A" "" "" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "pathogenic" "" "0000707332" "0" "99" "7" "94039080" "94039080" "subst" "0" "03865" "COL1A2_000025" "g.94039080G>A" "" "" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "pathogenic" "" "0000707333" "0" "59" "7" "94039080" "94039080" "subst" "0" "03865" "COL1A2_000025" "g.94039080G>A" "" "" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "pathogenic" "" "0000707334" "0" "59" "7" "94039080" "94039080" "subst" "0" "03865" "COL1A2_000025" "g.94039080G>A" "" "" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "pathogenic" "" "0000707335" "0" "59" "7" "94039080" "94039080" "subst" "0" "03865" "COL1A2_000025" "g.94039080G>A" "" "" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "pathogenic" "" "0000707336" "0" "59" "7" "94039080" "94039080" "subst" "0" "03865" "COL1A2_000025" "g.94039080G>A" "" "" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "pathogenic" "" "0000707337" "0" "99" "7" "94039080" "94039080" "subst" "0" "00085" "COL1A2_000025" "g.94039080G>A" "" "{PMID:Stephen et al., 2014:24668929}" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "pathogenic" "" "0000707338" "20" "99" "7" "94039080" "94039080" "subst" "0" "00085" "COL1A2_000025" "g.94039080G>A" "" "{PMID:Stephen et al., 2014:24668929}" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "pathogenic" "" "0000707339" "21" "99" "7" "94039080" "94039080" "subst" "0" "03872" "COL1A2_000025" "g.94039080G>A" "" "{PMID:Wang et al., 2015:26307460}" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "pathogenic" "" "0000707340" "0" "99" "7" "94039080" "94039080" "subst" "0" "00085" "COL1A2_000025" "g.94039080G>A" "" "{PMID:Ho Duy et al., 2016:27519266}" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "pathogenic" "" "0000707341" "0" "95" "7" "94039080" "94039080" "subst" "0" "03894" "COL1A2_000025" "g.94039080G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "VUS" "" "0000707342" "0" "95" "7" "94039080" "94039080" "subst" "0" "03894" "COL1A2_000025" "g.94039080G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "VUS" "" "0000707343" "0" "95" "7" "94039080" "94039080" "subst" "0" "03894" "COL1A2_000025" "g.94039080G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "VUS" "" "0000707344" "0" "95" "7" "94039080" "94039080" "subst" "0" "03894" "COL1A2_000025" "g.94039080G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "VUS" "" "0000707345" "0" "95" "7" "94039080" "94039080" "subst" "0" "03894" "COL1A2_000025" "g.94039080G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "VUS" "" "0000707346" "0" "95" "7" "94039080" "94039080" "subst" "0" "03894" "COL1A2_000025" "g.94039080G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "VUS" "" "0000707347" "0" "95" "7" "94039080" "94039080" "subst" "0" "03894" "COL1A2_000025" "g.94039080G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs66612022" "0" "" "" "" "" "VUS" "" "0000707348" "0" "95" "7" "94039080" "94039080" "subst" "0" "03897" "COL1A2_000025" "g.94039080G>A" "" "{PMID:Zhytnik 2019:31447884}" "" "" "" "Germline/De novo (untested)" "" "rs66612022" "0" "" "" "" "" "VUS" "" "0000707349" "0" "99" "7" "94039080" "94039080" "subst" "0" "00085" "COL1A2_000145" "g.94039080G>T" "" "{PMID:Trummer et al., 2001:11359465}" "" "" "" "Unknown" "" "rs66612023" "0" "" "" "" "" "pathogenic" "" "0000707350" "0" "95" "7" "94039080" "94039080" "subst" "0" "03894" "COL1A2_000145" "g.94039080G>T" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs66612023" "0" "" "" "" "" "VUS" "" "0000707351" "0" "99" "7" "94039081" "94039081" "subst" "0" "03704" "COL1A2_000026" "g.94039081G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72656396" "0" "" "" "" "" "pathogenic" "" "0000707352" "0" "99" "7" "94039081" "94039081" "subst" "0" "00085" "COL1A2_000555" "g.94039081G>T" "" "{PMID:Barkova et al., 2014:24863959}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707353" "0" "99" "7" "94039090" "94039090" "subst" "0" "00085" "COL1A2_000146" "g.94039090G>A" "" "{PMID:Lund et al., 1999:10408781}" "" "" "" "Unknown" "" "rs67729041" "0" "" "" "" "" "pathogenic" "" "0000707354" "0" "99" "7" "94039090" "94039090" "subst" "0" "00085" "COL1A2_000027" "g.94039090G>T" "" "{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)" "" "" "" "Unknown" "" "rs67729042" "0" "" "" "" "" "pathogenic" "" "0000707355" "0" "99" "7" "94039098" "94039098" "subst" "0" "00085" "COL1A2_000028" "g.94039098G>A" "" "{PMID:Marini et al., 2007:17078022} (Marini, personal communication)" "" "" "" "Unknown" "" "rs72656397" "0" "" "" "" "" "pathogenic" "" "0000707356" "0" "99" "7" "94039098" "94039098" "subst" "0" "01819" "COL1A2_000028" "g.94039098G>A" "" "" "" "" "" "Unknown" "" "rs72656397" "0" "" "" "" "" "pathogenic" "" "0000707357" "0" "99" "7" "94039098" "94039098" "subst" "0" "03865" "COL1A2_000028" "g.94039098G>A" "" "" "" "" "" "Unknown" "" "rs72656397" "0" "" "" "" "" "pathogenic" "" "0000707358" "0" "95" "7" "94039098" "94039098" "subst" "0" "03894" "COL1A2_000028" "g.94039098G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs72656397" "0" "" "" "" "" "VUS" "" "0000707359" "0" "99" "7" "94039107" "94039107" "subst" "0" "00085" "COL1A2_000029" "g.94039107G>A" "" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "Unknown" "" "rs67865220" "0" "" "" "" "" "pathogenic" "" "0000707360" "0" "99" "7" "94039107" "94039107" "subst" "0" "00085" "COL1A2_000029" "g.94039107G>A" "" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "Unknown" "" "rs67865220" "0" "" "" "" "" "pathogenic" "" "0000707361" "0" "99" "7" "94039107" "94039107" "subst" "0" "00085" "COL1A2_000029" "g.94039107G>A" "" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "Unknown" "" "rs67865220" "0" "" "" "" "" "pathogenic" "" "0000707362" "0" "99" "7" "94039107" "94039107" "subst" "0" "00085" "COL1A2_000029" "g.94039107G>A" "" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "Unknown" "" "rs67865220" "0" "" "" "" "" "pathogenic" "" "0000707363" "0" "99" "7" "94039107" "94039107" "subst" "0" "00085" "COL1A2_000029" "g.94039107G>A" "" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "Unknown" "" "rs67865220" "0" "" "" "" "" "pathogenic" "" "0000707364" "0" "99" "7" "94039107" "94039107" "subst" "0" "00085" "COL1A2_000029" "g.94039107G>A" "" "{PMID:Marini et al., 2007:17078022} (Marini and Cabral, personal communication)" "" "" "" "Unknown" "" "rs67865220" "0" "" "" "" "" "pathogenic" "" "0000707365" "0" "99" "7" "94039107" "94039107" "subst" "0" "03704" "COL1A2_000029" "g.94039107G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs67865220" "0" "" "" "" "" "pathogenic" "" "0000707366" "0" "99" "7" "94039107" "94039107" "subst" "0" "03704" "COL1A2_000029" "g.94039107G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs67865220" "0" "" "" "" "" "pathogenic" "" "0000707367" "0" "99" "7" "94039107" "94039107" "subst" "0" "00085" "COL1A2_000029" "g.94039107G>A" "" "{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)" "" "" "" "Unknown" "" "rs67865220" "0" "" "" "" "" "pathogenic" "" "0000707368" "0" "99" "7" "94039107" "94039107" "subst" "0" "00085" "COL1A2_000029" "g.94039107G>A" "" "{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)" "" "" "" "Unknown" "" "rs67865220" "0" "" "" "" "" "pathogenic" "" "0000707369" "0" "99" "7" "94039107" "94039107" "subst" "0" "00085" "COL1A2_000029" "g.94039107G>A" "" "{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)" "" "" "" "Unknown" "" "rs67865220" "0" "" "" "" "" "pathogenic" "" "0000707370" "0" "99" "7" "94039107" "94039107" "subst" "0" "00085" "COL1A2_000029" "g.94039107G>A" "" "{PMID:Roschger et al., 2008:18311573}" "" "" "" "Unknown" "" "rs67865220" "0" "" "" "" "" "pathogenic" "" "0000707371" "0" "99" "7" "94039107" "94039107" "subst" "0" "00085" "COL1A2_000029" "g.94039107G>A" "" "{PMID:Zhuang et al., 1996:8829649}" "" "" "" "Unknown" "" "rs67865220" "0" "" "" "" "" "pathogenic" "" "0000707372" "0" "99" "7" "94039107" "94039107" "subst" "0" "00085" "COL1A2_000029" "g.94039107G>A" "" "{PMID:De Vos et al., 2000:10942108}" "" "" "" "Unknown" "" "rs67865220" "0" "" "" "" "" "pathogenic" "" "0000707373" "0" "99" "7" "94039107" "94039107" "subst" "0" "03855" "COL1A2_000029" "g.94039107G>A" "" "" "" "" "" "Unknown" "" "rs67865220" "0" "" "" "" "" "pathogenic" "" "0000707374" "0" "99" "7" "94039107" "94039107" "subst" "0" "03855" "COL1A2_000029" "g.94039107G>A" "" "" "" "" "" "Unknown" "" "rs67865220" "0" "" "" "" "" "pathogenic" "" "0000707375" "0" "99" "7" "94039107" "94039107" "subst" "0" "03855" "COL1A2_000029" "g.94039107G>A" "" "" "" "" "" "Unknown" "" "rs67865220" "0" "" "" "" "" "pathogenic" "" "0000707376" "0" "99" "7" "94039107" "94039107" "subst" "0" "03855" "COL1A2_000029" "g.94039107G>A" "" "" "" "" "" "Unknown" "" "rs67865220" "0" "" "" "" "" "pathogenic" "" "0000707377" "0" "99" "7" "94039107" "94039107" "subst" "0" "03855" "COL1A2_000029" "g.94039107G>A" "" "" "" "" "" "Unknown" "" "rs67865220" "0" "" "" "" "" "pathogenic" "" "0000707378" "0" "59" "7" "94039107" "94039107" "subst" "0" "00475" "COL1A2_000029" "g.94039107G>A" "" "" "" "" "" "Unknown" "" "rs67865220" "0" "" "" "" "" "pathogenic" "" "0000707379" "0" "99" "7" "94039107" "94039107" "subst" "0" "00085" "COL1A2_000029" "g.94039107G>A" "" "{PMID:Zhang et al., 2011:21667357}" "" "" "" "Unknown" "" "rs67865220" "0" "" "" "" "" "pathogenic" "" "0000707380" "0" "99" "7" "94039107" "94039107" "subst" "0" "01819" "COL1A2_000029" "g.94039107G>A" "" "" "" "" "" "Unknown" "" "rs67865220" "0" "" "" "" "" "pathogenic" "" "0000707381" "0" "99" "7" "94039107" "94039107" "subst" "0" "03870" "COL1A2_000029" "g.94039107G>A" "" "" "" "" "" "Unknown" "" "rs67865220" "0" "" "" "" "" "pathogenic" "" "0000707382" "0" "99" "7" "94039107" "94039107" "subst" "0" "03879" "COL1A2_000029" "g.94039107G>A" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "rs67865220" "0" "" "" "" "" "pathogenic" "" "0000707383" "21" "99" "7" "94039107" "94039107" "subst" "0" "03879" "COL1A2_000029" "g.94039107G>A" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "rs67865220" "0" "" "" "" "" "pathogenic" "" "0000707384" "21" "99" "7" "94039107" "94039107" "subst" "0" "03879" "COL1A2_000029" "g.94039107G>A" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "rs67865220" "0" "" "" "" "" "pathogenic" "" "0000707385" "0" "99" "7" "94039107" "94039107" "subst" "0" "03879" "COL1A2_000029" "g.94039107G>A" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "rs67865220" "0" "" "" "" "" "pathogenic" "" "0000707386" "21" "99" "7" "94039107" "94039107" "subst" "0" "03879" "COL1A2_000029" "g.94039107G>A" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "rs67865220" "0" "" "" "" "" "pathogenic" "" "0000707387" "0" "99" "7" "94039107" "94039107" "subst" "0" "00085" "COL1A2_000029" "g.94039107G>A" "" "{PMID:Caparros-Martin et al., 2016:28116328}" "" "" "" "Unknown" "" "rs67865220" "0" "" "" "" "" "pathogenic" "" "0000707388" "0" "99" "7" "94039107" "94039107" "subst" "0" "03870" "COL1A2_000029" "g.94039107G>A" "" "" "" "" "" "Unknown" "" "rs67865220" "0" "" "" "" "" "pathogenic" "" "0000707389" "0" "99" "7" "94039107" "94039107" "subst" "0" "03870" "COL1A2_000029" "g.94039107G>A" "" "" "" "" "" "Unknown" "" "rs67865220" "0" "" "" "" "" "pathogenic" "" "0000707390" "0" "99" "7" "94039107" "94039107" "subst" "0" "00085" "COL1A2_000029" "g.94039107G>A" "" "{PMID:Ho Duy et al., 2016:27519266}" "" "" "" "Unknown" "" "rs67865220" "0" "" "" "" "" "pathogenic" "" "0000707391" "0" "95" "7" "94039107" "94039107" "subst" "0" "03894" "COL1A2_000029" "g.94039107G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs67865220" "0" "" "" "" "" "VUS" "" "0000707392" "0" "95" "7" "94039107" "94039107" "subst" "0" "03894" "COL1A2_000029" "g.94039107G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs67865220" "0" "" "" "" "" "VUS" "" "0000707393" "0" "95" "7" "94039107" "94039107" "subst" "0" "03894" "COL1A2_000029" "g.94039107G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs67865220" "0" "" "" "" "" "VUS" "" "0000707394" "0" "95" "7" "94039107" "94039107" "subst" "0" "03894" "COL1A2_000029" "g.94039107G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs67865220" "0" "" "" "" "" "VUS" "" "0000707395" "0" "95" "7" "94039107" "94039107" "subst" "0" "03894" "COL1A2_000029" "g.94039107G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs67865220" "0" "" "" "" "" "VUS" "" "0000707396" "0" "99" "7" "94039107" "94039107" "subst" "0" "03897" "COL1A2_000029" "g.94039107G>A" "" "{PMID:Zhytnik 2017:28810924}" "" "" "" "Germline" "" "rs67865220" "0" "" "" "" "" "pathogenic" "" "0000707397" "0" "99" "7" "94039107" "94039107" "subst" "0" "00085" "COL1A2_000029" "g.94039107G>A" "" "{PMID:Zhang et al., 2017:27748872}" "" "" "" "Unknown" "" "rs67865220" "0" "" "" "" "" "pathogenic" "" "0000707398" "0" "99" "7" "94039107" "94039107" "subst" "0" "00085" "COL1A2_000029" "g.94039107G>A" "" "{PMID:Zhang et al., 2017:27748872}" "" "" "" "Unknown" "" "rs67865220" "0" "" "" "" "" "pathogenic" "" "0000707399" "20" "95" "7" "94039107" "94039107" "subst" "0" "03897" "COL1A2_000029" "g.94039107G>A" "" "{PMID:Zhytnik 2019:31447884}" "" "" "" "Germline" "" "rs67865220" "0" "" "" "" "" "VUS" "" "0000707400" "0" "99" "7" "94039107" "94039107" "subst" "0" "03704" "COL1A2_000030" "g.94039107G>C" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs67865222" "0" "" "" "" "" "pathogenic" "" "0000707401" "0" "99" "7" "94039107" "94039107" "subst" "0" "00085" "COL1A2_000147" "g.94039107G>T" "" "Marini et al., 1993b {Localmarini_et_al_1993b.pdf:View abstract}" "" "" "" "Unknown" "" "rs67865221" "0" "" "" "" "" "pathogenic" "" "0000707402" "0" "99" "7" "94039107" "94039107" "subst" "0" "00085" "COL1A2_000147" "g.94039107G>T" "" "{PMID:Lund et al., 1999:10408781}" "" "" "" "Unknown" "" "rs67865221" "0" "" "" "" "" "pathogenic" "" "0000707403" "0" "99" "7" "94039107" "94039107" "subst" "0" "03865" "COL1A2_000147" "g.94039107G>T" "" "" "" "" "" "Unknown" "" "rs67865221" "0" "" "" "" "" "pathogenic" "" "0000707404" "0" "59" "7" "94039107" "94039107" "subst" "0" "03865" "COL1A2_000147" "g.94039107G>T" "" "" "" "" "" "Unknown" "" "rs67865221" "0" "" "" "" "" "pathogenic" "" "0000707405" "21" "99" "7" "94039107" "94039107" "subst" "0" "00085" "COL1A2_000147" "g.94039107G>T" "" "{PMID:Jia et al., 2017:28953610}" "" "" "" "Unknown" "" "rs67865221" "0" "" "" "" "" "pathogenic" "" "0000707406" "0" "99" "7" "94039107" "94039108" "delins" "0" "00085" "COL1A2_000149" "g.94039107_94039108delinsCC" "" "{PMID:Ward et al., 2001:11317364}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707407" "0" "99" "7" "94039108" "94039108" "subst" "0" "03855" "COL1A2_000409" "g.94039108G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707408" "0" "99" "7" "94039116" "94039116" "subst" "0" "00085" "COL1A2_000032" "g.94039116G>A" "" "{PMID:Marini et al., 2007:17078022} (Marini, personal communication)" "" "" "" "Unknown" "" "rs67180473" "0" "" "" "" "" "pathogenic" "" "0000707409" "0" "99" "7" "94039116" "94039116" "subst" "0" "03704" "COL1A2_000031" "g.94039116G>C" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs67180474" "0" "" "" "" "" "pathogenic" "" "0000707410" "0" "99" "7" "94039117" "94039117" "subst" "0" "03853" "COL1A2_000328" "g.94039117G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707411" "0" "99" "7" "94039117" "94039117" "subst" "0" "01819" "COL1A2_000328" "g.94039117G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707412" "0" "99" "7" "94039117" "94039117" "subst" "0" "01819" "COL1A2_000328" "g.94039117G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707413" "0" "99" "7" "94039125" "94039125" "subst" "0" "03870" "COL1A2_000624" "g.94039125G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707414" "0" "51" "7" "94039128" "94039128" "subst" "0" "00085" "COL1A2_000350" "g.94039128C>G" "" "" "" "" "" "Unknown" "" "rs16868573" "0" "" "" "" "" "VUS" "" "0000707415" "0" "99" "7" "94039131" "94039133" "del" "0" "00085" "COL1A2_000544" "g.94039131_94039133del" "" "{PMID:Rauch et al., 2014:25086671}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707416" "0" "75" "7" "94039131" "94039133" "del" "0" "01819" "COL1A2_000544" "g.94039131_94039133del" "" "{PMID:Essawi 2018:29150909}, {DOI:Essawi 2018:10.1002/mgg3.331}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707417" "0" "99" "7" "94039133" "94039135" "del" "0" "00085" "COL1A2_000383" "g.94039133_94039135del" "" "{PMID:Molyneux et al., 1993:8444468}" "" "" "" "Unknown" "" "rs72656398" "0" "" "" "" "" "pathogenic" "" "0000707418" "0" "99" "7" "94039133" "94039135" "del" "0" "03702" "COL1A2_000383" "g.94039133_94039135del" "" "" "" "" "" "Unknown" "" "rs72656398" "0" "" "" "" "" "pathogenic" "" "0000707419" "21" "99" "7" "94039133" "94039135" "del" "0" "03704" "COL1A2_000383" "g.94039133_94039135del" "" "{PMID:Pyott et al., 2011:21239989}" "" "" "" "Unknown" "" "rs72656398" "0" "" "" "" "" "pathogenic" "" "0000707420" "0" "99" "7" "94039133" "94039135" "del" "0" "00085" "COL1A2_000383" "g.94039133_94039135del" "" "{PMID:Chen et al., 2012:22795120}" "" "" "" "Unknown" "" "rs72656398" "0" "" "" "" "" "pathogenic" "" "0000707421" "0" "99" "7" "94039134" "94039135" "del" "0" "00085" "COL1A2_000253" "g.94039134_94039135del" "" "{PMID:Lee et al., 2006:16705691}" "" "" "" "Unknown" "" "rs72656399" "0" "" "" "" "" "pathogenic" "" "0000707422" "0" "99" "7" "94039332" "94039728" "del" "0" "00085" "COL1A2_000213" "g.94039332_94039728del" "" "{PMID:Pollitt et al., 2006:16786509}" "" "" "" "Unknown" "" "rs74315104" "0" "" "" "" "" "pathogenic" "" "0000707423" "11" "99" "7" "94039552" "94039552" "subst" "0" "00085" "COL1A2_000531" "g.94039552A>C" "" "{PMID:Choi et al., 2014:24616597}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707424" "20" "99" "7" "94039553" "94039553" "subst" "0" "00085" "COL1A2_000254" "g.94039553G>C" "" "{PMID:Mottes et al., 1994:8005592}" "" "" "" "Unknown" "" "rs72656400" "0" "" "" "" "" "pathogenic" "" "0000707425" "0" "99" "7" "94039553" "94039553" "subst" "0" "03870" "COL1A2_000254" "g.94039553G>C" "" "" "" "" "" "Unknown" "" "rs72656400" "0" "" "" "" "" "pathogenic" "" "0000707426" "0" "99" "7" "94039553" "94039553" "subst" "0" "03870" "COL1A2_000254" "g.94039553G>C" "" "" "" "" "" "Unknown" "" "rs72656400" "0" "" "" "" "" "pathogenic" "" "0000707427" "0" "99" "7" "94039732" "94039732" "subst" "0" "00085" "COL1A2_000545" "g.94039732G>T" "" "{PMID:Rauch et al., 2014:25086671}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707428" "0" "99" "7" "94039554" "94039554" "subst" "0" "00085" "COL1A2_000034" "g.94039554G>A" "" "{PMID:Marini et al., 2007:17078022} (Mottes and Lievore, personal communication)" "" "" "" "Unknown" "" "rs66547671" "0" "" "" "" "" "pathogenic" "" "0000707429" "0" "99" "7" "94039554" "94039554" "subst" "0" "00085" "COL1A2_000034" "g.94039554G>A" "" "{PMID:Caparros-Martin et al., 2016:28116328}" "" "" "" "Unknown" "" "rs66547671" "0" "" "" "" "" "pathogenic" "" "0000707430" "0" "99" "7" "94039554" "94039554" "subst" "0" "03704" "COL1A2_000033" "g.94039554G>T" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs66547672" "0" "" "" "" "" "pathogenic" "" "0000707431" "0" "99" "7" "94039563" "94039563" "subst" "0" "00085" "COL1A2_000035" "g.94039563G>A" "" "{PMID:Marini et al., 2007:17078022} (Lund, personal communication)" "" "" "" "Unknown" "" "rs66773002" "0" "" "" "" "" "pathogenic" "" "0000707432" "0" "99" "7" "94039563" "94039563" "subst" "0" "03879" "COL1A2_000035" "g.94039563G>A" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "rs66773002" "0" "" "" "" "" "pathogenic" "" "0000707433" "0" "99" "7" "94039563" "94039563" "subst" "0" "03704" "COL1A2_000150" "g.94039563G>T" "" "{PMID:Wenstrup et al., 1991:1990009}" "" "" "" "Unknown" "" "rs66773001" "0" "" "" "" "" "pathogenic" "" "0000707434" "0" "99" "7" "94039563" "94039563" "subst" "0" "00085" "COL1A2_000150" "g.94039563G>T" "" "{PMID:Mrosk et al., 2018:29499418}" "" "" "" "Unknown" "" "rs66773001" "0" "" "" "" "" "pathogenic" "" "0000707435" "0" "99" "7" "94039573" "94039573" "subst" "0" "03855" "COL1A2_000397" "g.94039573G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707436" "0" "99" "7" "94039582" "94039582" "subst" "0" "03855" "COL1A2_000401" "g.94039582G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707437" "0" "99" "7" "94039590" "94039590" "subst" "0" "00085" "COL1A2_000036" "g.94039590G>A" "" "{PMID:Marini et al., 2007:17078022} (Marini and Cabral, personal communication)" "" "" "" "Unknown" "" "rs66619856" "0" "" "" "g.94410278G>A" "" "pathogenic" "" "0000707438" "0" "99" "7" "94039590" "94039590" "subst" "0" "00085" "COL1A2_000036" "g.94039590G>A" "" "{PMID:Lee et al., 2006:16705691}" "" "" "" "Unknown" "" "rs66619856" "0" "" "" "" "" "pathogenic" "" "0000707439" "0" "99" "7" "94039590" "94039590" "subst" "0" "03702" "COL1A2_000036" "g.94039590G>A" "" "" "" "" "" "Unknown" "" "rs66619856" "0" "" "" "" "" "pathogenic" "" "0000707440" "0" "99" "7" "94039590" "94039590" "subst" "0" "01819" "COL1A2_000036" "g.94039590G>A" "" "" "" "" "" "Unknown" "" "rs66619856" "0" "" "" "" "" "pathogenic" "" "0000707441" "0" "99" "7" "94039590" "94039590" "subst" "0" "03867" "COL1A2_000036" "g.94039590G>A" "" "" "" "" "" "Unknown" "" "rs66619856" "0" "" "" "" "" "pathogenic" "" "0000707442" "0" "99" "7" "94039590" "94039590" "subst" "0" "00085" "COL1A2_000036" "g.94039590G>A" "" "{PMID:Kishta et al., 2015:26371943}" "" "" "" "Unknown" "" "rs66619856" "0" "" "" "" "" "pathogenic" "" "0000707443" "0" "99" "7" "94039590" "94039590" "subst" "0" "00085" "COL1A2_000036" "g.94039590G>A" "" "{PMID:Taillandier et al., 2015:26432670}" "" "" "" "Unknown" "" "rs66619856" "0" "" "" "" "" "pathogenic" "" "0000707444" "0" "95" "7" "94039590" "94039590" "subst" "0" "01819" "COL1A2_000036" "g.94039590G>A" "" "{PMID:Essawi 2018:29150909}, {DOI:Essawi 2018:10.1002/mgg3.331}" "" "" "" "Unknown" "" "rs66619856" "0" "" "" "" "" "VUS" "" "0000707445" "0" "99" "7" "94039590" "94039590" "subst" "0" "03894" "COL1A2_000036" "g.94039590G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs66619856" "0" "" "" "" "" "pathogenic" "" "0000707446" "0" "99" "7" "94039590" "94039590" "subst" "0" "00085" "COL1A2_000151" "g.94039590G>T" "" "{PMID:Lund et al., 1997:9240878}" "" "" "" "Unknown" "" "rs66619857" "0" "" "" "" "" "pathogenic" "" "0000707447" "0" "99" "7" "94039590" "94039590" "subst" "0" "00085" "COL1A2_000151" "g.94039590G>T" "" "{PMID:Ho Duy et al., 2016:27519266}" "" "" "" "Unknown" "" "rs66619857" "0" "" "" "" "" "pathogenic" "" "0000707448" "0" "99" "7" "94039591" "94039591" "subst" "0" "00085" "COL1A2_000621" "g.94039591G>A" "" "{PMID:Caparros-Martin et al., 2016:28116328}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707449" "21" "99" "7" "94039599" "94039599" "subst" "0" "00085" "COL1A2_000730" "g.94039599G>A" "" "{PMID:Talebi et al., 2017:28431466}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707450" "21" "99" "7" "94039599" "94039599" "subst" "0" "00085" "COL1A2_000730" "g.94039599G>A" "" "{PMID:Talebi et al., 2017:28431466}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707451" "0" "95" "7" "94039613" "94039613" "subst" "0" "03894" "COL1A2_000654" "g.94039613T>G" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "effect on splicing predicted from mini gene splicing assay" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707452" "0" "99" "7" "94039732" "94039732" "subst" "0" "00085" "COL1A2_000155" "g.94039732G>A" "" "{PMID:Ward et al., 2001:11317364}" "" "" "" "Unknown" "" "rs72656401" "0" "" "" "" "" "pathogenic" "" "0000707453" "0" "99" "7" "94039732" "94039732" "subst" "0" "00085" "COL1A2_000155" "g.94039732G>A" "" "{PMID:Ho Duy et al., 2016:27519266}" "" "" "" "Unknown" "" "rs72656401" "0" "" "" "" "" "pathogenic" "" "0000707454" "0" "99" "7" "94039741" "94039741" "subst" "0" "00085" "COL1A2_000156" "g.94039741G>T" "" "{PMID:Nuytinck et al., 2000:10807697}" "" "" "" "Unknown" "" "rs72656402" "0" "" "" "" "" "pathogenic" "" "0000707455" "0" "99" "7" "94039742" "94039742" "subst" "0" "00085" "COL1A2_000532" "g.94039742G>A" "" "{PMID:Stephen et al., 2014:24668929}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707456" "0" "99" "7" "94039750" "94039750" "subst" "0" "00085" "COL1A2_000037" "g.94039750G>A" "" "{PMID:Marini et al., 2007:17078022} (Lund, personal communication)" "" "" "" "Unknown" "" "rs72658103" "0" "" "" "" "" "pathogenic" "" "0000707457" "0" "99" "7" "94039750" "94039750" "subst" "0" "00085" "COL1A2_000037" "g.94039750G>A" "" "{PMID:Lund et al., 1997:9240878}" "" "" "" "Unknown" "" "rs72658103" "0" "" "" "" "" "pathogenic" "" "0000707458" "0" "99" "7" "94039751" "94039751" "subst" "0" "00085" "COL1A2_000157" "g.94039751G>C" "" "{PMID:Hartikka et al., 2004:15241796}" "" "" "" "Unknown" "" "rs72658104" "0" "" "" "" "" "pathogenic" "" "0000707459" "0" "99" "7" "94039759" "94039759" "subst" "0" "00085" "COL1A2_000620" "g.94039759G>C" "" "{PMID:Caparros-Martin et al., 2016:28116328}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707460" "0" "95" "7" "94039759" "94039759" "subst" "0" "03894" "COL1A2_000678" "g.94039759G>T" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000707461" "0" "99" "7" "94039769" "94039769" "subst" "0" "00085" "COL1A2_000158" "g.94039769G>A" "" "{PMID:Lund et al., 1997:9240878}" "" "" "" "Unknown" "" "rs67543427" "0" "" "" "" "" "pathogenic" "" "0000707462" "0" "99" "7" "94039769" "94039769" "subst" "0" "03704" "COL1A2_000158" "g.94039769G>A" "" "{PMID:Pyott et al., 2011:21239989}" "" "" "" "Unknown" "" "rs67543427" "0" "" "" "" "" "pathogenic" "" "0000707463" "0" "99" "7" "94039769" "94039769" "subst" "0" "03894" "COL1A2_000158" "g.94039769G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs67543427" "0" "" "" "" "" "pathogenic" "" "0000707464" "0" "99" "7" "94039769" "94039769" "subst" "0" "00085" "COL1A2_000038" "g.94039769G>T" "" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "Unknown" "" "rs67543428" "0" "" "" "" "" "pathogenic" "" "0000707465" "0" "99" "7" "94039777" "94039777" "subst" "0" "00085" "COL1A2_000572" "g.94039777G>A" "" "{PMID:Wang et al., 2015:25742658} {PMID:Wang et al., 2015:25933069}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707466" "0" "95" "7" "94039777" "94039777" "subst" "0" "03894" "COL1A2_000572" "g.94039777G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707467" "0" "99" "7" "94039786" "94039786" "subst" "0" "03865" "COL1A2_000497" "g.94039786G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707468" "0" "99" "7" "94039786" "94039786" "subst" "0" "03894" "COL1A2_000497" "g.94039786G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707469" "0" "99" "7" "94039795" "94039795" "subst" "0" "03870" "COL1A2_000456" "g.94039795G>A" "" "{PMID:Gentile et al., 2013:22753364}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707470" "0" "99" "7" "94039796" "94039796" "subst" "0" "00085" "COL1A2_000039" "g.94039796G>A" "" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "Unknown" "" "rs72658105" "0" "" "" "" "" "pathogenic" "" "0000707471" "0" "99" "7" "94039804" "94039804" "subst" "0" "03879" "COL1A2_000563" "g.94039804G>C" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707472" "0" "99" "7" "94039805" "94039805" "subst" "0" "03704" "COL1A2_000040" "g.94039805G>T" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72658106" "0" "" "" "" "" "pathogenic" "" "0000707473" "0" "99" "7" "94039805" "94039805" "subst" "0" "03704" "COL1A2_000040" "g.94039805G>T" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72658106" "0" "" "" "" "" "pathogenic" "" "0000707474" "0" "99" "7" "94039805" "94039805" "subst" "0" "00085" "COL1A2_000040" "g.94039805G>T" "" "{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)" "" "" "" "Unknown" "" "rs72658106" "0" "" "" "" "" "pathogenic" "" "0000707475" "0" "99" "7" "94039805" "94039805" "subst" "0" "03885" "COL1A2_000040" "g.94039805G>T" "" "{PMID:Bardai et al.,2016:27509835}" "" "" "" "Unknown" "" "rs72658106" "0" "" "" "" "" "pathogenic" "" "0000707476" "0" "99" "7" "94039813" "94039813" "subst" "0" "00085" "COL1A2_000041" "g.94039813G>A" "" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "Unknown" "" "rs67707918" "0" "" "" "" "" "pathogenic" "" "0000707477" "0" "99" "7" "94039813" "94039813" "subst" "0" "03870" "COL1A2_000041" "g.94039813G>A" "" "" "" "" "" "Unknown" "" "rs67707918" "0" "" "" "" "" "pathogenic" "" "0000707478" "0" "99" "7" "94039813" "94039813" "subst" "0" "03855" "COL1A2_000041" "g.94039813G>A" "" "" "" "" "" "Unknown" "" "rs67707918" "0" "" "" "" "" "pathogenic" "" "0000707479" "0" "99" "7" "94039813" "94039813" "subst" "0" "00085" "COL1A2_000041" "g.94039813G>A" "" "{PMID:Wang et al., 2012:23227268}" "" "" "" "Unknown" "" "rs67707918" "0" "" "" "" "" "pathogenic" "" "0000707480" "10" "99" "7" "94039813" "94039813" "subst" "0" "03879" "COL1A2_000041" "g.94039813G>A" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "rs67707918" "0" "" "" "" "" "pathogenic" "" "0000707481" "0" "99" "7" "94039813" "94039813" "subst" "0" "00085" "COL1A2_000041" "g.94039813G>A" "" "{PMID:Kantaputra et al., 2018:30152103}" "" "" "" "Unknown" "" "rs67707918" "0" "" "" "" "" "pathogenic" "" "0000707482" "0" "99" "7" "94039813" "94039813" "subst" "0" "00085" "COL1A2_000159" "g.94039813G>T" "" "{PMID:Ward et al., 2001:11317364}" "" "" "" "Unknown" "" "rs67707919" "0" "" "" "" "" "pathogenic" "" "0000707483" "0" "99" "7" "94039831" "94039831" "subst" "0" "03885" "COL1A2_000604" "g.94039831G>C" "" "{PMID:Bardai et al.,2016:27509835}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707484" "0" "99" "7" "94039832" "94039832" "subst" "0" "03704" "COL1A2_000295" "g.94039832G>A" "" "{PMID:Bodian et al., 2009:18996919}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707485" "0" "99" "7" "94039841" "94039879" "del" "0" "00085" "COL1A2_000255" "g.94039841_94039879del" "" "{PMID:Superti-Furga et al., 1993:8339544}" "" "" "" "Unknown" "" "rs72658107" "0" "" "" "" "" "pathogenic" "" "0000707486" "0" "99" "7" "94039844" "94039844" "subst" "0" "00085" "COL1A2_000256" "g.94039844G>A" "" "{PMID:Nicholls et al., 1996:8829655}" "" "" "" "Unknown" "" "rs68132886" "0" "" "" "" "" "pathogenic" "" "0000707487" "0" "99" "7" "94039844" "94039844" "subst" "0" "03704" "COL1A2_000256" "g.94039844G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs68132886" "0" "" "" "" "" "pathogenic" "" "0000707488" "0" "99" "7" "94039844" "94039844" "subst" "0" "03855" "COL1A2_000256" "g.94039844G>A" "" "" "" "" "" "Unknown" "" "rs68132886" "0" "" "" "" "" "pathogenic" "" "0000707489" "0" "99" "7" "94039844" "94039844" "subst" "0" "03870" "COL1A2_000256" "g.94039844G>A" "" "" "" "" "" "Unknown" "" "rs68132886" "0" "" "" "" "" "pathogenic" "" "0000707490" "0" "99" "7" "94039844" "94039844" "subst" "0" "03879" "COL1A2_000256" "g.94039844G>A" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "rs68132886" "0" "" "" "" "" "pathogenic" "" "0000707491" "21" "99" "7" "94039844" "94039844" "subst" "0" "03872" "COL1A2_000256" "g.94039844G>A" "" "" "" "" "" "Unknown" "" "rs68132886" "0" "" "" "" "" "pathogenic" "" "0000707492" "0" "95" "7" "94039844" "94039844" "subst" "0" "03894" "COL1A2_000256" "g.94039844G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs68132886" "0" "" "" "" "" "VUS" "" "0000707493" "0" "95" "7" "94039844" "94039844" "subst" "0" "03894" "COL1A2_000256" "g.94039844G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs68132886" "0" "" "" "" "" "VUS" "" "0000707494" "0" "99" "7" "94039844" "94039844" "subst" "0" "03704" "COL1A2_000257" "g.94039844G>C" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs68132885" "0" "" "" "" "" "pathogenic" "" "0000707495" "0" "59" "7" "94039844" "94039844" "subst" "0" "03855" "COL1A2_000387" "g.94039844G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707496" "0" "99" "7" "94040201" "94040201" "subst" "0" "03702" "COL1A2_000430" "g.94040201G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707497" "0" "99" "7" "94040202" "94040202" "subst" "0" "00085" "COL1A2_000597" "g.94040202G>A" "" "{PMID:Zarate et al., 2016:27090748}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707498" "0" "99" "7" "94040210" "94040210" "subst" "0" "03872" "COL1A2_000569" "g.94040210G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707499" "0" "99" "7" "94040210" "94040210" "subst" "0" "00085" "COL1A2_000688" "g.94040210G>T" "" "{PMID:Augusciak-Duma et al., 2018:29543922}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707500" "0" "99" "7" "94040219" "94040219" "subst" "0" "00085" "COL1A2_000160" "g.94040219G>A" "" "{PMID:Hartikka et al., 2004:15241796}" "" "" "" "Unknown" "" "rs72658108" "0" "" "" "" "" "pathogenic" "" "0000707501" "0" "75" "7" "94040223" "94040223" "subst" "0" "03897" "COL1A2_000764" "g.94040223T>C" "" "{PMID:Zhytnik 2019:31447884}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000707502" "0" "99" "7" "94040229" "94040229" "subst" "0" "00085" "COL1A2_000042" "g.94040229G>T" "" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "Unknown" "" "rs72658109" "0" "" "" "" "" "pathogenic" "" "0000707503" "0" "99" "7" "94040229" "94040230" "delins" "0" "00085" "COL1A2_000161" "g.94040229_94040230delinsTT" "" "{PMID:Mottes et al., 1998:10627137}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707504" "0" "99" "7" "94040368" "94040368" "subst" "0" "00085" "COL1A2_000043" "g.94040368G>A" "" "{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)" "" "" "" "Unknown" "" "rs72658110" "0" "" "" "" "" "pathogenic" "" "0000707505" "0" "99" "7" "94040369" "94040369" "subst" "0" "00085" "COL1A2_000044" "g.94040369G>A" "" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "Unknown" "" "rs72658111" "0" "" "" "" "" "pathogenic" "" "0000707506" "0" "99" "7" "94040377" "94040377" "subst" "0" "03894" "COL1A2_000670" "g.94040377G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707509" "21" "13" "7" "94040384" "94040384" "subst" "9.20931E-5" "03879" "COL1A2_000290" "g.94040384G>A" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000707510" "0" "11" "7" "94040384" "94040384" "subst" "9.20931E-5" "03879" "COL1A2_000290" "g.94040384G>A" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000707511" "0" "95" "7" "94040384" "94040384" "subst" "9.20931E-5" "03894" "COL1A2_000290" "g.94040384G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707512" "0" "99" "7" "94040386" "94040386" "subst" "0" "00085" "COL1A2_000045" "g.94040386G>A" "" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "Unknown" "" "rs72658112" "0" "" "" "" "" "pathogenic" "" "0000707513" "0" "99" "7" "94040387" "94040387" "subst" "0" "01819" "COL1A2_000467" "g.94040387G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707514" "0" "99" "7" "94040387" "94040387" "subst" "0" "00085" "COL1A2_000553" "g.94040387G>T" "" "{PMID:Barkova et al., 2014:24863959}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707515" "0" "99" "7" "94040387" "94040387" "subst" "0" "00085" "COL1A2_000553" "g.94040387G>T" "" "{PMID:Barkova et al., 2014:24863959}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707516" "0" "99" "7" "94040395" "94040395" "subst" "0" "03704" "COL1A2_000046" "g.94040395G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72658113" "0" "" "" "" "" "pathogenic" "" "0000707517" "0" "99" "7" "94040395" "94040395" "subst" "0" "00085" "COL1A2_000046" "g.94040395G>A" "" "{PMID:Marini et al., 2007:17078022} (Marini and Dawson, personal communication)" "" "" "" "Unknown" "" "rs72658113" "0" "" "" "" "" "pathogenic" "" "0000707518" "0" "99" "7" "94040395" "94040395" "subst" "0" "03855" "COL1A2_000046" "g.94040395G>A" "" "" "" "" "" "Unknown" "" "rs72658113" "0" "" "" "" "" "pathogenic" "" "0000707519" "0" "99" "7" "94040414" "94040414" "subst" "0" "03704" "COL1A2_000047" "g.94040414G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72658114" "0" "" "" "" "" "pathogenic" "" "0000707520" "0" "99" "7" "94040414" "94040414" "subst" "0" "00085" "COL1A2_000047" "g.94040414G>A" "" "{PMID:Rose et al., 1993:7906591}" "" "" "" "Unknown" "" "rs72658114" "0" "" "" "" "" "pathogenic" "" "0000707521" "0" "99" "7" "94040414" "94040414" "subst" "0" "00085" "COL1A2_000047" "g.94040414G>A" "" "{PMID:Akizawa et al., 2012:23181495}" "" "" "" "Unknown" "" "rs72658114" "0" "" "" "" "" "pathogenic" "" "0000707522" "0" "99" "7" "94040426" "94040428" "dup" "0" "00085" "COL1A2_000573" "g.94040426_94040428dup" "" "{PMID:Wang et al., 2015:25742658} {PMID:Wang et al., 2015:25933069}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707523" "0" "79" "7" "94040431" "94040431" "subst" "0" "00475" "COL1A2_000419" "g.94040431G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707524" "0" "99" "7" "94040432" "94040432" "subst" "0" "00085" "COL1A2_000519" "g.94040432G>A" "" "{PMID:Reuter et al., 2013:24140640}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707525" "0" "99" "7" "94040440" "94040440" "subst" "0" "01819" "COL1A2_000468" "g.94040440G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707526" "0" "99" "7" "94040441" "94040441" "subst" "0" "03885" "COL1A2_000605" "g.94040441G>A" "" "{PMID:Bardai et al.,2016:27509835}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707527" "0" "99" "7" "94040449" "94040449" "subst" "0" "00085" "COL1A2_000048" "g.94040449G>C" "" "{PMID:Marini et al., 2007:17078022} (Nuytinck and De Paepe, personal communication)" "" "" "" "Unknown" "" "rs72658115" "0" "" "" "" "" "pathogenic" "" "0000707528" "0" "99" "7" "94040459" "94040459" "subst" "0" "00085" "COL1A2_000049" "g.94040459G>A" "" "{PMID:Marini et al., 2007:17078022} (Cohn, King and Krakow, personal communication)" "" "" "" "Unknown" "" "rs72658116" "0" "" "" "" "" "pathogenic" "" "0000707529" "0" "99" "7" "94041380" "94041380" "subst" "0" "01819" "COL1A2_000469" "g.94041380G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707530" "0" "99" "7" "94041389" "94041389" "subst" "0" "03704" "COL1A2_000050" "g.94041389G>T" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72658117" "0" "" "" "" "" "pathogenic" "" "0000707531" "0" "99" "7" "94041389" "94041389" "subst" "0" "03704" "COL1A2_000050" "g.94041389G>T" "" "{PMID:Bodian et al., 2009:18996919}" "" "" "" "Unknown" "" "rs72658117" "0" "" "" "" "" "pathogenic" "" "0000707532" "0" "99" "7" "94041389" "94041389" "subst" "0" "03704" "COL1A2_000050" "g.94041389G>T" "" "{PMID:Pyott et al., 2011:21239989}" "" "" "" "Unknown" "" "rs72658117" "0" "" "" "" "" "pathogenic" "" "0000707533" "0" "99" "7" "94041390" "94041390" "subst" "0" "03870" "COL1A2_000344" "g.94041390G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707534" "0" "99" "7" "94041390" "94041390" "subst" "0" "00085" "COL1A2_000584" "g.94041390G>T" "" "{PMID:Alamillo et al., 2015:26147564}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707535" "0" "99" "7" "94041398" "94041399" "delins" "0" "03704" "COL1A2_000296" "g.94041398_94041399delinsCT" "" "{PMID:Bodian et al., 2009:18996919}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707536" "0" "99" "7" "94041407" "94041407" "subst" "0" "00085" "COL1A2_000051" "g.94041407G>A" "" "{PMID:Marini et al., 2007:17078022} (Marini and Cabral, personal communication)" "" "" "" "Unknown" "" "rs72658118" "0" "" "" "" "" "pathogenic" "" "0000707537" "0" "99" "7" "94041407" "94041407" "subst" "0" "00085" "COL1A2_000051" "g.94041407G>A" "" "{PMID:Marini et al., 2007:17078022} (Marini, personal communication)" "" "" "" "Unknown" "" "rs72658118" "0" "" "" "" "" "pathogenic" "" "0000707538" "0" "99" "7" "94041407" "94041407" "subst" "0" "00085" "COL1A2_000051" "g.94041407G>A" "" "{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)" "" "" "" "Unknown" "" "rs72658118" "0" "" "" "" "" "pathogenic" "" "0000707539" "0" "99" "7" "94041407" "94041407" "subst" "0" "03704" "COL1A2_000051" "g.94041407G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72658118" "0" "" "" "" "" "pathogenic" "" "0000707540" "0" "99" "7" "94041407" "94041407" "subst" "0" "00085" "COL1A2_000051" "g.94041407G>A" "" "{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)" "" "" "" "Unknown" "" "rs72658118" "0" "" "" "" "" "pathogenic" "" "0000707541" "0" "99" "7" "94041407" "94041407" "subst" "0" "00085" "COL1A2_000051" "g.94041407G>A" "" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "Unknown" "" "rs72658118" "0" "" "" "" "" "pathogenic" "" "0000707542" "0" "99" "7" "94041407" "94041407" "subst" "0" "00085" "COL1A2_000051" "g.94041407G>A" "" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "Unknown" "" "rs72658118" "0" "" "" "" "" "pathogenic" "" "0000707543" "0" "99" "7" "94041407" "94041407" "subst" "0" "00085" "COL1A2_000051" "g.94041407G>A" "" "{PMID:Zhuang et al., 1996:8829649}" "" "" "" "Unknown" "" "rs72658118" "0" "" "" "" "" "pathogenic" "" "0000707544" "0" "99" "7" "94041407" "94041407" "subst" "0" "00085" "COL1A2_000051" "g.94041407G>A" "" "{PMID:Hartikka et al., 2004:15241796}" "" "" "" "Unknown" "" "rs72658118" "0" "" "" "" "" "pathogenic" "" "0000707545" "0" "99" "7" "94041407" "94041407" "subst" "0" "03702" "COL1A2_000051" "g.94041407G>A" "" "Lund, personal communication" "" "" "" "Unknown" "" "rs72658118" "0" "" "" "" "" "pathogenic" "" "0000707546" "0" "99" "7" "94041407" "94041407" "subst" "0" "03853" "COL1A2_000051" "g.94041407G>A" "" "" "" "" "" "Unknown" "" "rs72658118" "0" "" "" "" "" "pathogenic" "" "0000707547" "0" "99" "7" "94041407" "94041407" "subst" "0" "03870" "COL1A2_000051" "g.94041407G>A" "" "" "" "" "" "Unknown" "" "rs72658118" "0" "" "" "" "" "pathogenic" "" "0000707548" "0" "99" "7" "94041407" "94041407" "subst" "0" "01819" "COL1A2_000051" "g.94041407G>A" "" "" "" "" "" "Unknown" "" "rs72658118" "0" "" "" "" "" "pathogenic" "" "0000707549" "0" "99" "7" "94041407" "94041407" "subst" "0" "01819" "COL1A2_000051" "g.94041407G>A" "" "" "" "" "" "Unknown" "" "rs72658118" "0" "" "" "" "" "pathogenic" "" "0000707550" "0" "99" "7" "94041407" "94041407" "subst" "0" "00085" "COL1A2_000051" "g.94041407G>A" "" "{PMID:Lin et al., 2015:26627451}" "" "" "" "Unknown" "" "rs72658118" "0" "" "" "" "" "pathogenic" "" "0000707551" "0" "99" "7" "94041407" "94041407" "subst" "0" "00085" "COL1A2_000051" "g.94041407G>A" "" "{PMID:Ho Duy et al., 2016:27519266}" "" "" "" "Unknown" "" "rs72658118" "0" "" "" "" "" "pathogenic" "" "0000707552" "0" "99" "7" "94041407" "94041407" "subst" "0" "03891" "COL1A2_000051" "g.94041407G>A" "" "" "" "" "" "Unknown" "" "rs72658118" "0" "" "" "" "" "pathogenic" "" "0000707553" "0" "99" "7" "94041409" "94041426" "del" "0" "03704" "COL1A2_000301" "g.94041409_94041426del" "" "{PMID:Bodian et al., 2009:18996919}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707554" "0" "99" "7" "94041434" "94041434" "subst" "0" "03704" "COL1A2_000260" "g.94041434G>A" "" "{PMID:Schwarze et al., 2004:15077201}" "" "" "" "Unknown" "" "rs67162110" "0" "" "" "" "" "pathogenic" "" "0000707555" "0" "99" "7" "94041434" "94041434" "subst" "0" "03704" "COL1A2_000258" "g.94041434G>C" "" "{PMID:Schwarze et al., 2004:15077201}" "" "" "" "Unknown" "" "rs67162111" "0" "" "" "" "" "pathogenic" "" "0000707556" "0" "99" "7" "94041897" "94041897" "subst" "0" "03704" "COL1A2_000162" "g.94041897G>C" "" "{PMID:Johnson et al., 2002:11836364}" "" "" "" "Unknown" "" "rs72658119" "0" "" "" "" "" "pathogenic" "" "0000707557" "0" "99" "7" "94041897" "94041897" "subst" "0" "03879" "COL1A2_000162" "g.94041897G>C" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "rs72658119" "0" "" "" "" "" "pathogenic" "" "0000707558" "0" "99" "7" "94041897" "94041897" "subst" "0" "00085" "COL1A2_000162" "g.94041897G>C" "" "{PMID:Caparros-Martin et al., 2016:28116328}" "" "" "" "Unknown" "" "rs72658119" "0" "" "" "" "" "pathogenic" "" "0000707559" "0" "95" "7" "94041897" "94041897" "subst" "0" "03894" "COL1A2_000162" "g.94041897G>C" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs72658119" "0" "" "" "" "" "VUS" "" "0000707560" "0" "99" "7" "94041897" "94041897" "subst" "0" "00085" "COL1A2_000551" "g.94041897G>T" "" "{PMID:Barkova et al., 2014:24863959}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707561" "0" "99" "7" "94041924" "94041924" "subst" "0" "00085" "COL1A2_000052" "g.94041924G>A" "" "{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)" "" "" "" "Unknown" "" "rs67034935" "0" "" "" "" "" "pathogenic" "" "0000707562" "0" "99" "7" "94041924" "94041924" "subst" "0" "03879" "COL1A2_000052" "g.94041924G>A" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "rs67034935" "0" "" "" "" "" "pathogenic" "" "0000707563" "0" "99" "7" "94041924" "94041924" "subst" "0" "00085" "COL1A2_000053" "g.94041924G>T" "" "{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)" "" "" "" "Unknown" "" "rs67034934" "0" "" "" "" "" "pathogenic" "" "0000707564" "0" "99" "7" "94041932" "94041932" "subst" "0" "03702" "COL1A2_000281" "g.94041932G>A" "" "Lund, personal communication" "" "" "" "Unknown" "" "rs72658120" "0" "" "" "" "" "pathogenic" "" "0000707565" "0" "11" "7" "94041937" "94041937" "subst" "0.339081" "00085" "COL1A2_000311" "g.94041937A>C" "" "{PMID:Constantinou et al., 1990:1977119} {PMID:Yoneyama et al., 2004:14739420} {PMID:Chan et al., 2008:18272325} {PMID:Bodian et al., 2009:18996919}" "" "" "" "Unknown" "" "rs412777" "0" "" "" "" "" "likely benign" "" "0000707566" "0" "11" "7" "94041937" "94041937" "subst" "0.339081" "03867" "COL1A2_000311" "g.94041937A>C" "" "" "" "" "" "Unknown" "" "rs412777" "0" "" "" "" "" "likely benign" "" "0000707567" "0" "11" "7" "94041937" "94041937" "subst" "0.339081" "03867" "COL1A2_000311" "g.94041937A>C" "" "" "" "" "" "Unknown" "" "rs412777" "0" "" "" "" "" "likely benign" "" "0000707568" "0" "51" "7" "94041939" "94041939" "subst" "0" "00085" "COL1A2_000352" "g.94041939C>T" "" "" "" "" "" "Unknown" "" "rs414408" "0" "" "" "" "" "VUS" "" "0000707569" "0" "99" "7" "94041942" "94041942" "subst" "0" "00085" "COL1A2_000054" "g.94041942G>A" "" "{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)" "" "" "" "Unknown" "" "rs66671033" "0" "" "" "" "" "pathogenic" "" "0000707570" "0" "99" "7" "94041942" "94041942" "subst" "0" "00085" "COL1A2_000054" "g.94041942G>A" "" "{PMID:Ho Duy et al., 2016:27519266}" "" "" "" "Unknown" "" "rs66671033" "0" "" "" "" "" "pathogenic" "" "0000707571" "0" "99" "7" "94041942" "94041942" "subst" "0" "00085" "COL1A2_000054" "g.94041942G>A" "" "{PMID:Kantaputra et al., 2018:29636545}" "" "" "" "Unknown" "" "rs66671033" "0" "" "" "" "" "pathogenic" "" "0000707572" "0" "99" "7" "94041942" "94041942" "subst" "0" "00085" "COL1A2_000163" "g.94041942G>T" "" "{PMID:Lund et al., 1997:9240878}" "" "" "" "Unknown" "" "rs66671034" "0" "" "" "" "" "pathogenic" "" "0000707573" "0" "99" "7" "94041951" "94041951" "subst" "0" "03870" "COL1A2_000625" "g.94041951G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707574" "0" "99" "7" "94041960" "94041961" "delins" "0" "03704" "COL1A2_000164" "g.94041960_94041961delinsAG" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707575" "0" "99" "7" "94041969" "94041969" "subst" "0" "00085" "COL1A2_000055" "g.94041969G>A" "" "{PMID:Marini et al., 2007:17078022} (Lund, personal communication)" "" "" "" "Unknown" "" "rs72658121" "0" "" "" "" "" "pathogenic" "" "0000707576" "21" "99" "7" "94041969" "94041969" "subst" "0" "00085" "COL1A2_000533" "g.94041969G>T" "" "{PMID:Stephen et al., 2014:24668929}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707577" "0" "95" "7" "94041971" "94041979" "dup" "0" "03894" "COL1A2_000677" "g.94041971_94041979dup" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707578" "0" "99" "7" "94041978" "94041978" "subst" "0" "00085" "COL1A2_000585" "g.94041978G>C" "" "{PMID:Styrkarsdottir et al., 2016:26235824}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707579" "0" "99" "7" "94041987" "94041987" "subst" "0" "00085" "COL1A2_000056" "g.94041987G>T" "" "{PMID:Marini et al., 2007:17078022} (Cohn, King and Krakow, personal communication)" "" "" "" "Unknown" "" "rs72658122" "0" "" "" "" "" "pathogenic" "" "0000707580" "0" "97" "7" "94042005" "94042005" "subst" "5.73484E-5" "00085" "COL1A2_000509" "g.94042005C>T" "" "{PMID:Chen et al., 2012:22795121}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000707581" "0" "99" "7" "94042394" "94042394" "subst" "0" "00085" "COL1A2_000262" "g.94042394G>C" "" "{PMID:Marini et al., 2007:17078022} (Lund, personal communication)" "" "" "" "Unknown" "" "rs72658123" "0" "" "" "" "" "pathogenic" "" "0000707582" "0" "99" "7" "94042394" "94042394" "subst" "0" "03702" "COL1A2_000262" "g.94042394G>C" "" "Lund, personal communication" "" "" "" "Unknown" "" "rs72658123" "0" "" "" "" "" "pathogenic" "" "0000707583" "0" "51" "7" "94042400" "94042400" "subst" "0" "00085" "COL1A2_000353" "g.94042400T>C" "" "" "" "" "" "Unknown" "" "rs433386" "0" "" "" "" "" "VUS" "" "0000707584" "0" "99" "7" "94042414" "94042414" "subst" "0" "00085" "COL1A2_000057" "g.94042414G>A" "" "{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)" "" "" "" "Unknown" "" "rs72658124" "0" "" "" "" "" "pathogenic" "" "0000707585" "0" "95" "7" "94042414" "94042414" "subst" "0" "03894" "COL1A2_000674" "g.94042414G>T" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707586" "0" "99" "7" "94042422" "94042422" "subst" "0" "00085" "COL1A2_000058" "g.94042422G>A" "" "{PMID:Marini et al., 2007:17078022} (Mottes and Lievore, personal communication)" "" "" "" "Unknown" "" "rs72658125" "0" "" "" "" "" "pathogenic" "" "0000707587" "2" "99" "7" "94042422" "94042422" "subst" "0" "03855" "COL1A2_000058" "g.94042422G>A" "" "" "" "" "" "Unknown" "" "rs72658125" "0" "" "" "" "" "pathogenic" "" "0000707588" "0" "99" "7" "94042422" "94042422" "subst" "0" "03855" "COL1A2_000058" "g.94042422G>A" "" "" "" "" "" "Unknown" "" "rs72658125" "0" "" "" "" "" "pathogenic" "" "0000707589" "0" "99" "7" "94042423" "94042423" "subst" "0" "00085" "COL1A2_000240" "g.94042423G>A" "" "{PMID:Forlino et al., 1998:9923651}" "" "" "" "Unknown" "" "rs66999265" "0" "" "" "" "" "pathogenic" "" "0000707590" "0" "99" "7" "94042423" "94042423" "subst" "0" "00085" "COL1A2_000059" "g.94042423G>T" "" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "Unknown" "" "rs66999266" "0" "" "" "" "" "pathogenic" "" "0000707591" "0" "99" "7" "94042432" "94042432" "subst" "0" "03870" "COL1A2_000538" "g.94042432G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707592" "0" "99" "7" "94042440" "94042440" "subst" "0" "00085" "COL1A2_000534" "g.94042440G>A" "" "{PMID:Stephen et al., 2014:24668929}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707593" "0" "99" "7" "94042440" "94042440" "subst" "0" "00085" "COL1A2_000060" "g.94042440G>C" "" "{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)" "" "" "" "Unknown" "" "rs72658126" "0" "" "" "" "" "pathogenic" "" "0000707594" "0" "99" "7" "94042440" "94042440" "subst" "0" "00085" "COL1A2_000060" "g.94042440G>C" "" "{PMID:Sztrolovics et al., 1994:7520724}" "" "" "" "Unknown" "" "rs72658126" "0" "" "" "" "" "pathogenic" "" "0000707595" "0" "99" "7" "94042441" "94042441" "subst" "0" "03853" "COL1A2_000333" "g.94042441G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707596" "0" "99" "7" "94042441" "94042441" "subst" "0" "03867" "COL1A2_000333" "g.94042441G>A" "" "{DOI:Majka et al., 2013:10.4236/ojgen.2013.31006}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707597" "11" "99" "7" "94042451" "94042451" "subst" "0" "00085" "COL1A2_000263" "g.94042451A>G" "" "{PMID:Zolezzi et al., 1997:9268111}" "" "" "" "Unknown" "" "rs72658127" "0" "" "" "" "" "pathogenic" "" "0000707598" "0" "99" "7" "94042451" "94042451" "subst" "0" "03853" "COL1A2_000263" "g.94042451A>G" "" "" "" "" "" "Unknown" "" "rs72658127" "0" "" "" "" "" "pathogenic" "" "0000707599" "0" "59" "7" "94042451" "94042451" "subst" "0" "03853" "COL1A2_000263" "g.94042451A>G" "" "" "" "" "" "Unknown" "" "rs72658127" "0" "" "" "" "" "pathogenic" "" "0000707600" "0" "99" "7" "94042451" "94042451" "subst" "0" "00085" "COL1A2_000263" "g.94042451A>G" "" "{PMID:Zhang et al., 2011:21667357}" "" "" "" "Unknown" "" "rs72658127" "0" "" "" "" "" "pathogenic" "" "0000707601" "0" "99" "7" "94043002" "94043002" "subst" "0" "00085" "COL1A2_000061" "g.94043002G>A" "" "{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)" "" "" "" "Unknown" "" "rs72658128" "0" "" "" "" "" "pathogenic" "" "0000707602" "0" "99" "7" "94043020" "94043020" "subst" "0" "00085" "COL1A2_000165" "g.94043020G>A" "" "{PMID:Dawson et al., 1999:10027910}" "" "" "" "Unknown" "" "rs72658129" "0" "" "" "" "" "pathogenic" "" "0000707603" "0" "99" "7" "94043021" "94043021" "subst" "0" "03704" "COL1A2_000062" "g.94043021G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72658130" "0" "" "" "" "" "pathogenic" "" "0000707604" "0" "99" "7" "94043021" "94043021" "subst" "0" "00085" "COL1A2_000062" "g.94043021G>A" "" "{PMID:Ward et al., 2001:11317364}" "" "" "" "Unknown" "" "rs72658130" "0" "" "" "" "" "pathogenic" "" "0000707605" "0" "99" "7" "94043021" "94043021" "subst" "0" "03704" "COL1A2_000062" "g.94043021G>A" "" "{PMID:Bodian et al., 2009:18996919}" "" "" "" "Unknown" "" "rs72658130" "0" "" "" "" "" "pathogenic" "" "0000707606" "0" "11" "7" "94043027" "94043027" "subst" "8.5275E-5" "00085" "COL1A2_000317" "g.94043027A>G" "" "{PMID:Chan et al., 2008:18272325}" "" "" "" "Unknown" "" "rs41317144" "0" "" "" "" "" "likely benign" "" "0000707607" "0" "99" "7" "94043029" "94043029" "subst" "0" "00085" "COL1A2_000166" "g.94043029G>T" "" "Mottes et al., 1996 {Localmottes_et_al_1996.pdf:View abstract} {dbSNP72658131}" "" "" "" "Unknown" "" "rs72658131" "0" "" "" "" "" "pathogenic" "" "0000707608" "0" "99" "7" "94043030" "94043030" "subst" "0" "03885" "COL1A2_000610" "g.94043030G>A" "" "{PMID:Bardai et al.,2016:27509835}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707609" "0" "99" "7" "94043039" "94043039" "subst" "0" "00085" "COL1A2_000152" "g.94043039G>A" "" "{PMID:Ward et al., 2001:11317364}" "" "" "" "Unknown" "" "rs72658132" "0" "" "" "" "" "pathogenic" "" "0000707610" "0" "99" "7" "94043204" "94043204" "subst" "0" "00085" "COL1A2_000265" "g.94043204A>G" "" "{PMID:Tromp and Prockop, 1988:2839839}" "" "" "" "Unknown" "" "rs1799871" "0" "" "" "" "" "pathogenic" "" "0000707611" "0" "95" "7" "94043206" "94043206" "subst" "0" "03894" "COL1A2_000761" "g.94043206G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707612" "0" "99" "7" "94043215" "94043215" "subst" "0" "03704" "COL1A2_000063" "g.94043215G>T" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72658133" "0" "" "" "" "" "pathogenic" "" "0000707613" "0" "99" "7" "94043224" "94043224" "subst" "0" "00085" "COL1A2_000064" "g.94043224G>A" "" "{PMID:Marini et al., 2007:17078022} (Lund, personal communication)" "" "" "" "Unknown" "" "rs72658134" "0" "" "" "" "" "pathogenic" "" "0000707614" "0" "99" "7" "94043224" "94043224" "subst" "0" "00085" "COL1A2_000064" "g.94043224G>A" "" "{PMID:Ho Duy et al., 2016:27519266}" "" "" "" "Unknown" "" "rs72658134" "0" "" "" "" "" "pathogenic" "" "0000707615" "0" "99" "7" "94043224" "94043224" "subst" "0" "03897" "COL1A2_000725" "g.94043224G>T" "" "{PMID:Zhytnik 2017:28810924}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000707616" "0" "99" "7" "94043225" "94043225" "subst" "0" "03704" "COL1A2_000065" "g.94043225G>T" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72658135" "0" "" "" "" "" "pathogenic" "" "0000707617" "0" "99" "7" "94043233" "94043233" "subst" "0" "00085" "COL1A2_000167" "g.94043233G>C" "" "{PMID:Bateman et al., 1992:1284475}" "" "" "" "Unknown" "" "rs72658136" "0" "" "" "" "" "pathogenic" "" "0000707618" "0" "11" "7" "94043239" "94043239" "subst" "0.771791" "00085" "COL1A2_000312" "g.94043239C>G" "" "{PMID:Bateman et al., 1992:1284475}" "" "" "" "Unknown" "" "rs42524" "0" "" "" "" "" "likely benign" "" "0000707619" "0" "11" "7" "94043239" "94043239" "subst" "0.771791" "00085" "COL1A2_000312" "g.94043239C>G" "" "{PMID:Bateman et al., 1992:1284475}, {PMID:Yoneyama et al., 2004:14739420}, {PMID:Chan et al., 2008:18272325}, {PMID:Bodian et al., 2009:18996919}" "" "" "" "Unknown" "" "rs42524" "0" "" "" "" "" "likely benign" "" "0000707620" "3" "13" "7" "94043239" "94043239" "subst" "0.771791" "00085" "COL1A2_000312" "g.94043239C>G" "" "{PMID:Wang et al., 2012:23227268}" "" "" "" "Unknown" "" "rs42524" "0" "" "" "" "" "likely benign" "" "0000707621" "0" "99" "7" "94043242" "94043242" "subst" "0" "00085" "COL1A2_000445" "g.94043242G>A" "" "{PMID:Lin et al., 2010:21488275}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707622" "0" "99" "7" "94043242" "94043242" "subst" "0" "00085" "COL1A2_000445" "g.94043242G>A" "" "{PMID:Zhang et al., 2017:27748872}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000707623" "0" "99" "7" "94043252" "94043252" "subst" "0" "00085" "COL1A2_000066" "g.94043252G>A" "" "{PMID:Marini et al., 2007:17078022} (Steinmann and Giunta, personal communication)" "" "" "" "Unknown" "" "rs72658137" "0" "" "" "" "" "pathogenic" "" "0000707624" "0" "99" "7" "94043252" "94043252" "subst" "0" "00085" "COL1A2_000535" "g.94043252G>T" "" "{PMID:Stephen et al., 2014:24668929}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707625" "0" "99" "7" "94043534" "94043534" "subst" "0" "00085" "COL1A2_000591" "g.94043534G>T" "" "{PMID:Lin et al., 2015:26627451}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707626" "0" "99" "7" "94043534" "94043534" "subst" "0" "00085" "COL1A2_000591" "g.94043534G>T" "" "{PMID:Zhang et al., 2017:27748872}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707627" "11" "99" "7" "94043552" "94043552" "subst" "0" "03704" "COL1A2_000168" "g.94043552G>T" "" "{PMID:Edwards et al., 1992:1301191}" "" "" "" "Unknown" "" "rs72658138" "0" "" "" "" "" "pathogenic" "" "0000707628" "0" "99" "7" "94043553" "94043553" "subst" "0" "03870" "COL1A2_000626" "g.94043553G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707629" "0" "99" "7" "94043553" "94043553" "subst" "0" "03704" "COL1A2_000297" "g.94043553G>T" "" "{PMID:Bodian et al., 2009:18996919}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707630" "0" "99" "7" "94043553" "94043553" "subst" "0" "03855" "COL1A2_000297" "g.94043553G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707631" "0" "11" "7" "94043558" "94043558" "subst" "2.84287E-5" "00085" "COL1A2_000318" "g.94043558G>A" "" "{PMID:Chan et al., 2008:18272325}" "" "" "" "Unknown" "" "rs41317153" "0" "" "" "" "" "likely benign" "" "0000707632" "0" "99" "7" "94043561" "94043561" "subst" "0" "03853" "COL1A2_000331" "g.94043561G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707633" "0" "99" "7" "94043569" "94043593" "del" "0" "03704" "COL1A2_000305" "g.94043569_94043593del" "" "{PMID:Bodian et al., 2009:18996919}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707634" "0" "99" "7" "94043571" "94043571" "subst" "0" "03856" "COL1A2_000329" "g.94043571G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707635" "0" "99" "7" "94043579" "94043579" "subst" "0" "03853" "COL1A2_000334" "g.94043579G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707636" "0" "99" "7" "94044536" "94044536" "subst" "0" "03704" "COL1A2_000306" "g.94044536A>G" "" "{PMID:Bodian et al., 2009:18996919}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707637" "0" "99" "7" "94044538" "94044538" "subst" "0" "00085" "COL1A2_000623" "g.94044538G>A" "" "{PMID: van Dijk et al, 2011:22570641}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707638" "21" "33" "7" "94044545" "94044545" "subst" "1.21844E-5" "03879" "COL1A2_000561" "g.94044545A>G" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "benign" "" "0000707639" "0" "99" "7" "94044547" "94044547" "subst" "0" "00085" "COL1A2_000632" "g.94044547G>A" "" "{PMID:Ho Duy et al., 2016:27519266}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707640" "0" "99" "7" "94044548" "94044548" "subst" "0" "03870" "COL1A2_000627" "g.94044548G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707641" "0" "99" "7" "94044574" "94044574" "subst" "0" "00085" "COL1A2_000543" "g.94044574G>A" "" "{PMID:Rauch et al., 2014:25086671}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707642" "0" "99" "7" "94044574" "94044574" "subst" "0" "00085" "COL1A2_000169" "g.94044574G>C" "" "Bateman et al., 1990 {Localbateman_et_al_1990.pdf:View abstract}" "" "" "" "Unknown" "" "rs72658139" "0" "" "" "" "" "pathogenic" "" "0000707643" "0" "99" "7" "94044583" "94044583" "subst" "0" "03704" "COL1A2_000266" "g.94044583G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72658140" "0" "" "" "" "" "pathogenic" "" "0000707644" "0" "99" "7" "94045726" "94045726" "subst" "0" "00085" "COL1A2_000067" "g.94045726G>A" "" "{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)" "" "" "" "Unknown" "" "rs72658141" "0" "" "" "" "" "pathogenic" "" "0000707645" "0" "99" "7" "94045726" "94045726" "subst" "0" "00085" "COL1A2_000067" "g.94045726G>A" "" "{PMID:Rose et al., 1994:7959683}" "" "" "" "Unknown" "" "rs72658141" "0" "" "" "" "" "pathogenic" "" "0000707646" "0" "99" "7" "94045726" "94045726" "subst" "0" "00085" "COL1A2_000067" "g.94045726G>A" "" "{PMID:Rose et al., 1994:7959683}" "" "" "" "Unknown" "" "rs72658141" "0" "" "" "" "" "pathogenic" "" "0000707647" "0" "99" "7" "94045726" "94045726" "subst" "0" "00085" "COL1A2_000067" "g.94045726G>A" "" "{PMID:Rose et al., 1994:7959683}" "" "" "" "Unknown" "" "rs72658141" "0" "" "" "" "" "pathogenic" "" "0000707648" "0" "99" "7" "94045726" "94045726" "subst" "0" "03888" "COL1A2_000067" "g.94045726G>A" "" "" "" "" "" "Unknown" "" "rs72658141" "0" "" "" "" "" "pathogenic" "" "0000707649" "0" "99" "7" "94045726" "94045726" "subst" "0" "03870" "COL1A2_000067" "g.94045726G>A" "" "" "" "" "" "Unknown" "" "rs72658141" "0" "" "" "" "" "pathogenic" "" "0000707650" "0" "99" "7" "94045735" "94045735" "subst" "0" "00085" "COL1A2_000170" "g.94045735G>A" "" "{PMID:Hartikka et al., 2004:15241796}" "" "" "" "Unknown" "" "rs67745466" "0" "" "" "" "" "pathogenic" "" "0000707651" "0" "99" "7" "94045735" "94045735" "subst" "0" "00085" "COL1A2_000068" "g.94045735G>T" "" "{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)" "" "" "" "Unknown" "" "rs67745467" "0" "" "" "" "" "pathogenic" "" "0000707652" "0" "99" "7" "94045745" "94045745" "subst" "0" "00085" "COL1A2_000069" "g.94045745G>T" "" "{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)" "" "" "" "Unknown" "" "rs72658142" "0" "" "" "" "" "pathogenic" "" "0000707653" "0" "99" "7" "94045753" "94045753" "subst" "0" "00085" "COL1A2_000070" "g.94045753G>A" "" "{PMID:Marini et al., 2007:17078022} (Marini and Moriarty, personal communication)" "" "" "" "Unknown" "" "rs72658143" "0" "" "" "" "" "pathogenic" "" "0000707654" "0" "99" "7" "94045753" "94045753" "subst" "0" "00085" "COL1A2_000070" "g.94045753G>A" "" "{PMID:Marini et al., 2007:17078022} (Marini and Moriarty, personal communication)" "" "" "" "Unknown" "" "rs72658143" "0" "" "" "" "" "pathogenic" "" "0000707655" "0" "99" "7" "94045753" "94045753" "subst" "0" "00085" "COL1A2_000070" "g.94045753G>A" "" "{PMID:Ward et al., 2001:11317364}" "" "" "" "Unknown" "" "rs72658143" "0" "" "" "" "" "pathogenic" "" "0000707656" "0" "99" "7" "94045753" "94045753" "subst" "0" "00085" "COL1A2_000070" "g.94045753G>A" "" "{PMID:Lee et al., 2006:16705691}" "" "" "" "Unknown" "" "rs72658143" "0" "" "" "" "" "pathogenic" "" "0000707657" "0" "99" "7" "94045753" "94045753" "subst" "0" "03855" "COL1A2_000070" "g.94045753G>A" "" "" "" "" "" "Unknown" "" "rs72658143" "0" "" "" "" "" "pathogenic" "" "0000707658" "0" "99" "7" "94045753" "94045753" "subst" "0" "00085" "COL1A2_000070" "g.94045753G>A" "" "{PMID:Zhang et al., 2011:21667357}" "" "" "" "Unknown" "" "rs72658143" "0" "" "" "" "" "pathogenic" "" "0000707659" "0" "99" "7" "94045753" "94045753" "subst" "0" "00085" "COL1A2_000070" "g.94045753G>A" "" "{PMID:Rauch et al., 2014:25086671}" "" "" "" "Unknown" "" "rs72658143" "0" "" "" "" "" "pathogenic" "" "0000707660" "0" "99" "7" "94045753" "94045753" "subst" "0" "03879" "COL1A2_000070" "g.94045753G>A" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "rs72658143" "0" "" "" "" "" "pathogenic" "" "0000707661" "0" "99" "7" "94045754" "94045754" "subst" "0" "03704" "COL1A2_000071" "g.94045754G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72658144" "0" "" "" "" "" "pathogenic" "" "0000707662" "0" "99" "7" "94045754" "94045754" "subst" "0" "01819" "COL1A2_000470" "g.94045754G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707663" "0" "99" "7" "94045798" "94045798" "subst" "0" "03885" "COL1A2_000607" "g.94045798G>C" "" "{PMID:Bardai et al.,2016:27509835}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707664" "11" "99" "7" "94045815" "94045815" "subst" "0" "00085" "COL1A2_000618" "g.94045815G>A" "" "{PMID:Frederiksen et al., 2016:27761249}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707665" "0" "99" "7" "94047046" "94047046" "subst" "0" "00085" "COL1A2_000173" "g.94047046G>A" "" "{PMID:Venturi et al., 2006:16879195}" "" "" "" "Unknown" "" "rs72658145" "0" "" "" "" "" "pathogenic" "" "0000707666" "0" "99" "7" "94047046" "94047046" "subst" "0" "00085" "COL1A2_000173" "g.94047046G>A" "" "{PMID:Barkova et al., 2014:24863959}" "" "" "" "Unknown" "" "rs72658145" "0" "" "" "" "" "pathogenic" "" "0000707667" "0" "11" "7" "94047050" "94047050" "subst" "0.0511339" "00085" "COL1A2_000313" "g.94047050G>T" "" "{PMID:Bateman et al., 1993:8456808} {PMID:Yoneyama et al., 2004:14739420} {PMID:Chan et al., 2008:18272325} {PMID:Bodian et al., 2009:18996919}" "" "" "" "Unknown" "" "rs1800238" "0" "" "" "" "" "likely benign" "" "0000707668" "0" "99" "7" "94047054" "94047054" "subst" "0" "00085" "COL1A2_000171" "g.94047054G>C" "" "{PMID:Ward et al., 2001:11317364}" "" "" "" "Unknown" "" "rs72658146" "0" "" "" "" "" "pathogenic" "" "0000707669" "0" "99" "7" "94047064" "94047064" "subst" "0" "03885" "COL1A2_000608" "g.94047064G>T" "" "{PMID:Bardai et al.,2016:27509835}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707670" "0" "95" "7" "94047072" "94047072" "subst" "0" "03894" "COL1A2_000676" "g.94047072G>C" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707671" "0" "99" "7" "94047073" "94047073" "subst" "0" "03855" "COL1A2_000405" "g.94047073G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707672" "0" "99" "7" "94047073" "94047073" "subst" "0" "00085" "COL1A2_000172" "g.94047073G>T" "" "{PMID:Sztrolovics et al., 1993:8401517}" "" "" "" "Unknown" "" "rs72658147" "0" "" "" "" "" "pathogenic" "" "0000707673" "0" "99" "7" "94047082" "94047082" "subst" "0" "03704" "COL1A2_000072" "g.94047082G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72658148" "0" "" "" "" "" "pathogenic" "" "0000707674" "0" "99" "7" "94047082" "94047082" "subst" "0" "00085" "COL1A2_000072" "g.94047082G>A" "" "Bonadio et al., 1988 {Localbonadio_et_al_1988.pdf:View abstract}" "" "" "" "Unknown" "" "rs72658148" "0" "" "" "" "" "pathogenic" "" "0000707675" "0" "95" "7" "94047085" "94047085" "subst" "0" "03894" "COL1A2_000652" "g.94047085C>T" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707676" "0" "99" "7" "94047091" "94047091" "subst" "0" "00085" "COL1A2_000073" "g.94047091G>A" "" "{PMID:Marini et al., 2007:17078022} (Cohn, King and Krakow, personal communication)" "" "" "" "Unknown" "" "rs72658149" "0" "" "" "" "" "pathogenic" "" "0000707677" "0" "99" "7" "94047108" "94047108" "subst" "0" "00085" "COL1A2_000446" "g.94047108G>T" "" "{PMID:Lin et al., 2010:21488249}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707678" "0" "99" "7" "94047109" "94047109" "subst" "0" "00085" "COL1A2_000074" "g.94047109G>T" "" "{PMID:Marini et al., 2007:17078022} (Cohn, King and Krakow, personal communication)" "" "" "" "Unknown" "" "rs72658150" "0" "" "" "" "" "pathogenic" "" "0000707679" "0" "99" "7" "94047109" "94047109" "subst" "0" "03702" "COL1A2_000074" "g.94047109G>T" "" "Lund, personal communication" "" "" "" "Unknown" "" "rs72658150" "0" "" "" "" "" "pathogenic" "" "0000707680" "0" "99" "7" "94047109" "94047109" "subst" "0" "03879" "COL1A2_000074" "g.94047109G>T" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "rs72658150" "0" "" "" "" "" "pathogenic" "" "0000707681" "0" "99" "7" "94047118" "94047118" "subst" "0" "03870" "COL1A2_000628" "g.94047118G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707682" "0" "99" "7" "94047118" "94047118" "subst" "0" "03870" "COL1A2_000628" "g.94047118G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707683" "0" "99" "7" "94047118" "94047118" "subst" "0" "03895" "COL1A2_000628" "g.94047118G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707684" "0" "95" "7" "94047136" "94047136" "subst" "0" "03894" "COL1A2_000664" "g.94047136G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707685" "0" "99" "7" "94047136" "94047136" "subst" "0" "00085" "COL1A2_000633" "g.94047136G>T" "" "{PMID:Ho Duy et al., 2016:27519266}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707686" "0" "99" "7" "94047144" "94047144" "subst" "0" "03704" "COL1A2_000264" "g.94047144G>A" "" "Kuslich and Byers, 2000 {OLDASHG00:1052:Abstract}" "" "" "" "Unknown" "" "rs72658151" "0" "" "" "" "" "pathogenic" "" "0000707687" "0" "99" "7" "94047144" "94047144" "subst" "0" "03704" "COL1A2_000264" "g.94047144G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72658151" "0" "" "" "" "" "pathogenic" "" "0000707688" "0" "99" "7" "94047145" "94047176" "del" "0" "03704" "COL1A2_000437" "g.94047145_94047176del" "" "{PMID:Pyott et al., 2011:21239989}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707689" "21" "99" "7" "94035075" "94047591" "dup" "0" "03704" "COL1A2_000211" "g.94035075_94047591dup" "" "{PMID:Raff et al., 2000:10982177}" "" "[1972-222G>C;1972-220T>A;540+37_1972-220dup]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000707690" "0" "99" "7" "94047811" "94047811" "subst" "0" "00085" "COL1A2_000685" "g.94047811G>A" "" "{PMID:Mohd Nawawi et al., 2018:29807018}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707691" "0" "99" "7" "94047820" "94047820" "subst" "0" "00085" "COL1A2_000075" "g.94047820G>A" "" "{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)" "" "" "" "Unknown" "" "rs72658152" "0" "" "" "" "" "pathogenic" "" "0000707692" "0" "99" "7" "94047820" "94047820" "subst" "0" "00085" "COL1A2_000634" "g.94047820G>C" "" "{PMID:Ho Duy et al., 2016:27519266}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707693" "0" "99" "7" "94047820" "94047820" "subst" "0" "03853" "COL1A2_000435" "g.94047820G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707694" "0" "99" "7" "94047820" "94047820" "subst" "0" "00085" "COL1A2_000435" "g.94047820G>T" "" "{PMID:Zhang et al., 2011:21667357}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707695" "0" "99" "7" "94047820" "94047820" "subst" "0" "03870" "COL1A2_000435" "g.94047820G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707696" "0" "95" "7" "94047820" "94047820" "subst" "0" "03894" "COL1A2_000435" "g.94047820G>T" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707697" "0" "99" "7" "94047821" "94047821" "subst" "0" "03853" "COL1A2_000426" "g.94047821G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707698" "0" "99" "7" "94047821" "94047821" "subst" "0" "03870" "COL1A2_000426" "g.94047821G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707699" "0" "99" "7" "94047821" "94047821" "subst" "0" "00085" "COL1A2_000076" "g.94047821G>T" "" "{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)" "" "" "" "Unknown" "" "rs72658153" "0" "" "" "" "" "pathogenic" "" "0000707700" "0" "99" "7" "94047830" "94047830" "subst" "0" "00085" "COL1A2_000174" "g.94047830G>A" "" "{PMID:Ward et al., 2001:11317364}" "" "" "" "Unknown" "" "rs72658154" "0" "" "" "" "" "pathogenic" "" "0000707701" "0" "99" "7" "94047830" "94047830" "subst" "0" "00085" "COL1A2_000174" "g.94047830G>A" "" "{PMID:Mohd Nawawi et al., 2018:29807018}" "" "" "" "Unknown" "" "rs72658154" "0" "" "" "" "" "pathogenic" "" "0000707702" "0" "95" "7" "94047830" "94047830" "subst" "0" "01819" "COL1A2_000616" "g.94047830G>T" "" "{PMID:Essawi 2018:29150909}, {DOI:Essawi 2018:10.1002/mgg3.331}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707703" "0" "99" "7" "94047847" "94047847" "subst" "0" "03865" "COL1A2_000518" "g.94047847G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707704" "0" "99" "7" "94047848" "94047848" "subst" "0" "03704" "COL1A2_000077" "g.94047848G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72658155" "0" "" "" "" "" "pathogenic" "" "0000707705" "0" "99" "7" "94047848" "94047848" "subst" "0" "00085" "COL1A2_000077" "g.94047848G>A" "" "{PMID:Niyibizi et al., 1992:1385413}" "" "" "" "Unknown" "" "rs72658155" "0" "" "" "" "" "pathogenic" "" "0000707706" "0" "99" "7" "94047857" "94047857" "subst" "0" "03853" "COL1A2_000284" "g.94047857G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707707" "0" "99" "7" "94047857" "94047857" "subst" "0" "00085" "COL1A2_000284" "g.94047857G>A" "" "{PMID:Lin et al., 2015:26627451}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707708" "0" "99" "7" "94047868" "94047868" "subst" "0" "00085" "COL1A2_000267" "g.94047868A>G" "" "{PMID:Wenstrup et al., 1993:8456807}" "" "" "" "Unknown" "" "rs72658156" "0" "" "" "" "" "pathogenic" "" "0000707709" "0" "95" "7" "94047868" "94047868" "subst" "0" "03894" "COL1A2_000267" "g.94047868A>G" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs72658156" "0" "" "" "" "" "VUS" "" "0000707710" "0" "99" "7" "94047869" "94047869" "subst" "0" "00085" "COL1A2_000268" "g.94047869G>A" "" "{PMID:Ganguly et al., 1991:1711048}" "" "" "" "Unknown" "" "rs72658157" "0" "" "" "" "" "pathogenic" "" "0000707711" "0" "99" "7" "94048198" "94052613" "del" "0" "03704" "COL1A2_000214" "g.94048198_94052613del" "" "{PMID:Willing et al., 1988:3372533}" "" "" "" "Unknown" "" "rs74315138" "0" "" "" "" "" "pathogenic" "" "0000707712" "0" "99" "7" "94048809" "94048815" "dup" "0" "03897" "COL1A2_000729" "g.94048809_94048815dup" "" "{PMID:Zhytnik 2017:28810924}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000707713" "0" "95" "7" "94048809" "94048826" "dup" "0" "03894" "COL1A2_000666" "g.94048809_94048826dup" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707714" "0" "95" "7" "94048809" "94048826" "dup" "0" "03897" "COL1A2_000666" "g.94048809_94048826dup" "" "{PMID:Zhytnik 2019:31447884}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000707715" "20" "99" "7" "94048810" "94048810" "subst" "0" "00085" "COL1A2_000175" "g.94048810G>C" "" "{PMID:Ward et al., 2001:11317364}" "" "" "" "Unknown" "" "rs72658158" "0" "" "" "" "" "pathogenic" "" "0000707716" "0" "99" "7" "94048811" "94048811" "subst" "0" "03704" "COL1A2_000078" "g.94048811G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs66883878" "0" "" "" "" "" "pathogenic" "" "0000707717" "0" "99" "7" "94048811" "94048811" "subst" "0" "00085" "COL1A2_000078" "g.94048811G>A" "" "{PMID:Lee et al., 2006:16705691}" "" "" "" "Unknown" "" "rs66883878" "0" "" "" "" "" "pathogenic" "" "0000707718" "0" "99" "7" "94048811" "94048811" "subst" "0" "03879" "COL1A2_000078" "g.94048811G>A" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "rs66883878" "0" "" "" "" "" "pathogenic" "" "0000707719" "0" "99" "7" "94048811" "94048811" "subst" "0" "03894" "COL1A2_000078" "g.94048811G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs66883878" "0" "" "" "" "" "pathogenic" "" "0000707720" "0" "99" "7" "94048811" "94048811" "subst" "0" "00085" "COL1A2_000078" "g.94048811G>A" "" "{PMID:Trancozo et al., 2019:31429852}" "" "" "" "Unknown" "" "rs66883878" "0" "" "" "" "" "pathogenic" "" "0000707721" "0" "95" "7" "94048811" "94048811" "subst" "0" "03897" "COL1A2_000078" "g.94048811G>A" "" "{PMID:Zhytnik 2019:31447884}" "" "" "" "Germline/De novo (untested)" "" "rs66883878" "0" "" "" "" "" "VUS" "" "0000707722" "0" "99" "7" "94048811" "94048811" "subst" "0" "00085" "COL1A2_000176" "g.94048811G>T" "" "{PMID:Bateman et al., 1991:2064612}" "" "" "" "Unknown" "" "rs66883877" "0" "" "" "" "" "pathogenic" "" "0000707723" "0" "99" "7" "94048811" "94048811" "subst" "0" "00085" "COL1A2_000176" "g.94048811G>T" "" "{PMID:Forlino et al., 1994:7881420}" "" "" "" "Unknown" "" "rs66883877" "0" "" "" "" "" "pathogenic" "" "0000707724" "0" "99" "7" "94048815" "94048832" "dup" "0" "03704" "COL1A2_000215" "g.94048815_94048832dup" "" "{PMID:Pace et al., 2001:11668615}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707725" "0" "51" "7" "94048817" "94048817" "subst" "0" "00085" "COL1A2_000358" "g.94048817C>A" "" "" "" "" "" "Unknown" "" "rs409108" "0" "" "" "" "" "VUS" "" "0000707726" "0" "99" "7" "94048829" "94048829" "subst" "0" "03704" "COL1A2_000079" "g.94048829G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72658159" "0" "" "" "" "" "pathogenic" "" "0000707727" "0" "75" "7" "94048829" "94048829" "subst" "0" "03897" "COL1A2_000762" "g.94048829G>T" "" "{PMID:Zhytnik 2019:31447884}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000707728" "0" "99" "7" "94048856" "94048856" "subst" "0" "00085" "COL1A2_000598" "g.94048856G>A" "" "{PMID:Árvai et al., 2016:27335225}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707729" "0" "51" "7" "94048862" "94048862" "subst" "0.00208806" "00085" "COL1A2_000359" "g.94048862G>A" "" "" "" "" "" "Unknown" "" "rs34147460" "0" "" "" "" "" "VUS" "" "0000707730" "0" "95" "7" "94049546" "94049546" "subst" "0" "03894" "COL1A2_000653" "g.94049546G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707731" "0" "99" "7" "94049546" "94049546" "subst" "0" "00085" "COL1A2_000653" "g.94049546G>A" "" "{PMID:Zhang et al., 2017:27748872}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707732" "0" "99" "7" "94049546" "94049546" "subst" "0" "00085" "COL1A2_000653" "g.94049546G>A" "" "{PMID:Zhang et al., 2017:27748872}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707733" "0" "95" "7" "94049554" "94049554" "subst" "0" "03894" "COL1A2_000647" "g.94049554G>T" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707734" "0" "99" "7" "94049563" "94049563" "subst" "0" "03853" "COL1A2_000335" "g.94049563G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707735" "0" "99" "7" "94049563" "94049563" "subst" "0" "00085" "COL1A2_000177" "g.94049563G>T" "" "McBride et al., 1999 {Localmcbride_et_al_1999.pdf:View abstract}" "" "" "" "Unknown" "" "rs72658160" "0" "" "" "" "" "pathogenic" "" "0000707736" "0" "99" "7" "94049564" "94049564" "subst" "0" "00085" "COL1A2_000080" "g.94049564G>A" "" "{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)" "" "" "" "Unknown" "" "rs72658161" "0" "" "" "" "" "pathogenic" "" "0000707737" "0" "99" "7" "94049564" "94049564" "subst" "0" "01819" "COL1A2_000080" "g.94049564G>A" "" "" "" "" "" "Unknown" "" "rs72658161" "0" "" "" "" "" "pathogenic" "" "0000707738" "0" "99" "7" "94049572" "94049572" "subst" "0" "00085" "COL1A2_000586" "g.94049572G>A" "" "{PMID:Styrkarsdottir et al., 2016:26235824}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707739" "0" "99" "7" "94049573" "94049573" "subst" "0" "03865" "COL1A2_000499" "g.94049573G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707740" "21" "99" "7" "94049573" "94049573" "subst" "0" "03889" "COL1A2_000499" "g.94049573G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707741" "0" "95" "7" "94049573" "94049573" "subst" "0" "03894" "COL1A2_000499" "g.94049573G>T" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707742" "0" "99" "7" "94049578" "94049586" "del" "0" "03704" "COL1A2_000216" "g.94049578_94049586del" "" "{PMID:Pace et al., 2001:11668615}" "" "" "" "Unknown" "" "rs72658162" "0" "" "" "" "" "pathogenic" "" "0000707743" "0" "99" "7" "94049578" "94049586" "del" "0" "03704" "COL1A2_000216" "g.94049578_94049586del" "" "{PMID:Bodian et al., 2009:18996919}" "" "" "" "Unknown" "" "rs72658162" "0" "" "" "" "" "pathogenic" "" "0000707744" "0" "99" "7" "94049578" "94049586" "del" "0" "03855" "COL1A2_000216" "g.94049578_94049586del" "" "" "" "" "" "Unknown" "" "rs72658162" "0" "" "" "" "" "pathogenic" "" "0000707745" "11" "33" "7" "94049588" "94049588" "subst" "0.000678851" "00085" "COL1A2_000178" "g.94049588G>A" "" "{PMID:Forlino et al., 1998:9923651}" "" "" "" "Unknown" "" "rs72658163" "0" "" "" "" "" "benign" "" "0000707746" "0" "93" "7" "94049588" "94049588" "subst" "0.000678851" "00085" "COL1A2_000178" "g.94049588G>A" "" "{PMID:Phillips et al., 1990:1978725}" "" "" "" "Unknown" "" "rs72658163" "0" "" "" "" "" "VUS" "" "0000707747" "0" "93" "7" "94049588" "94049588" "subst" "0.000678851" "00085" "COL1A2_000178" "g.94049588G>A" "" "{PMID:Taillandier et al., 2015:26432670}" "" "" "" "Unknown" "" "rs72658163" "0" "" "" "" "" "VUS" "" "0000707748" "0" "99" "7" "94049591" "94049591" "subst" "0" "03855" "COL1A2_000390" "g.94049591G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707749" "10" "99" "7" "94049603" "94049603" "subst" "0" "03704" "COL1A2_000443" "g.94049603G>A" "" "{PMID:Pyott et al., 2011:21239989}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707750" "0" "99" "7" "94049604" "94049604" "subst" "0" "00085" "COL1A2_000269" "g.94049604T>A" "" "{PMID:Lee et al., 2006:16705691}" "" "" "" "Unknown" "" "rs72658164" "0" "" "" "" "" "pathogenic" "" "0000707751" "0" "99" "7" "94049604" "94049604" "subst" "0" "03855" "COL1A2_000269" "g.94049604T>A" "" "" "" "" "" "Unknown" "" "rs72658164" "0" "" "" "" "" "pathogenic" "" "0000707752" "0" "99" "7" "94049604" "94049604" "subst" "0" "01819" "COL1A2_000269" "g.94049604T>A" "" "" "" "" "" "Unknown" "" "rs72658164" "0" "" "" "" "" "pathogenic" "" "0000707753" "0" "95" "7" "94049604" "94049604" "subst" "0" "03894" "COL1A2_000269" "g.94049604T>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs72658164" "0" "" "" "" "" "VUS" "" "0000707754" "0" "93" "7" "94049606" "94049606" "subst" "0" "01819" "COL1A2_000483" "g.94049606A>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707755" "0" "99" "7" "94049703" "94049703" "subst" "0" "03704" "COL1A2_000081" "g.94049703G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72658165" "0" "" "" "" "" "pathogenic" "" "0000707756" "0" "99" "7" "94049703" "94049703" "subst" "0" "00085" "COL1A2_000081" "g.94049703G>A" "" "{PMID:Lund et al., 1997:9240878}" "" "" "" "Unknown" "" "rs72658165" "0" "" "" "" "" "pathogenic" "" "0000707757" "0" "99" "7" "94049704" "94049704" "subst" "0" "00085" "COL1A2_000082" "g.94049704G>A" "" "{PMID:Marini et al., 2007:17078022} (Nuytinck and De Paepe, personal communication)" "" "" "" "Unknown" "" "rs72658166" "0" "" "" "" "" "pathogenic" "" "0000707758" "0" "99" "7" "94049704" "94049704" "subst" "0" "03855" "COL1A2_000082" "g.94049704G>A" "" "" "" "" "" "Unknown" "" "rs72658166" "0" "" "" "" "" "pathogenic" "" "0000707759" "0" "95" "7" "94049710" "94049710" "subst" "0" "03894" "COL1A2_000667" "g.94049710G>T" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707760" "0" "99" "7" "94049712" "94049712" "subst" "0" "03853" "COL1A2_000285" "g.94049712G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707761" "0" "99" "7" "94049713" "94049713" "subst" "0" "00085" "COL1A2_000083" "g.94049713G>A" "" "{PMID:Marini et al., 2007:17078022} (Nuytinck and De Paepe, personal communication)" "" "" "" "Unknown" "" "rs72658167" "0" "" "" "" "" "pathogenic" "" "0000707762" "11" "99" "7" "94049713" "94049713" "subst" "0" "03704" "COL1A2_000083" "g.94049713G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72658167" "0" "" "" "" "" "pathogenic" "" "0000707763" "0" "51" "7" "94049714" "94049714" "subst" "0" "00085" "COL1A2_000360" "g.94049714T>C" "" "" "" "" "" "Unknown" "" "rs407577" "0" "" "" "" "" "VUS" "" "0000707764" "0" "99" "7" "94049721" "94049721" "subst" "0" "00085" "COL1A2_000084" "g.94049721G>A" "" "{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)" "" "" "" "Unknown" "" "rs72658168" "0" "" "" "" "" "pathogenic" "" "0000707765" "0" "99" "7" "94049721" "94049721" "subst" "0" "00085" "COL1A2_000084" "g.94049721G>A" "" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "Unknown" "" "rs72658168" "0" "" "" "" "" "pathogenic" "" "0000707766" "0" "99" "7" "94049721" "94049721" "subst" "0" "03702" "COL1A2_000084" "g.94049721G>A" "" "" "" "" "" "Unknown" "" "rs72658168" "0" "" "" "" "" "pathogenic" "" "0000707767" "0" "99" "7" "94049730" "94049730" "subst" "0" "03704" "COL1A2_000085" "g.94049730G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72658169" "0" "" "" "" "" "pathogenic" "" "0000707768" "0" "51" "7" "94049738" "94049738" "subst" "0" "00085" "COL1A2_000361" "g.94049738T>C" "" "" "" "" "" "Unknown" "" "rs407599" "0" "" "" "" "" "VUS" "" "0000707769" "0" "99" "7" "94049740" "94049740" "subst" "0" "00085" "COL1A2_000644" "g.94049740G>A" "" "{PMID:Rolvien et al., 2018:29946973}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707770" "3" "99" "7" "94049744" "94049770" "dup" "0" "03855" "COL1A2_000410" "g.94049744_94049770dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707771" "0" "51" "7" "94049753" "94049753" "subst" "0" "00085" "COL1A2_000362" "g.94049753T>G" "" "" "" "" "" "Unknown" "" "rs407620" "0" "" "" "" "" "VUS" "" "0000707772" "0" "99" "7" "94049758" "94049758" "subst" "0" "00085" "COL1A2_000270" "g.94049758T>C" "" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "Unknown" "" "rs72658170" "0" "" "" "" "" "pathogenic" "" "0000707773" "0" "99" "7" "94049758" "94049758" "subst" "0" "00085" "COL1A2_000270" "g.94049758T>C" "" "{PMID:Lee et al., 2006:16705691}" "" "" "" "Unknown" "" "rs72658170" "0" "" "" "" "" "pathogenic" "" "0000707774" "0" "93" "7" "94049849" "94049849" "subst" "0" "03879" "COL1A2_000566" "g.94049849A>C" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707775" "0" "99" "7" "94049853" "94049853" "subst" "0" "00085" "COL1A2_000510" "g.94049853G>C" "" "{PMID:Hachiya et al., 2012:22911485}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707776" "0" "99" "7" "94049853" "94049853" "subst" "0" "03879" "COL1A2_000510" "g.94049853G>C" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707777" "0" "99" "7" "94049853" "94049853" "subst" "0" "00085" "COL1A2_000179" "g.94049853G>T" "" "{PMID:Gomez-Lira et al., 1994:7891382}" "" "" "" "Unknown" "" "rs72658171" "0" "" "" "" "" "pathogenic" "" "0000707778" "0" "99" "7" "94049862" "94049862" "subst" "0" "00085" "COL1A2_000180" "g.94049862G>T" "" "{PMID:Pollitt et al., 2006:16786509}" "" "" "" "Unknown" "" "rs72658172" "0" "" "" "" "" "pathogenic" "" "0000707779" "0" "99" "7" "94049862" "94049862" "subst" "0" "01819" "COL1A2_000180" "g.94049862G>T" "" "" "" "" "" "Unknown" "" "rs72658172" "0" "" "" "" "" "pathogenic" "" "0000707780" "20" "99" "7" "94049862" "94049862" "subst" "0" "00085" "COL1A2_000180" "g.94049862G>T" "" "{PMID:Chen et al., 2012:22795107}" "" "" "" "Unknown" "" "rs72658172" "0" "" "" "" "" "pathogenic" "" "0000707781" "0" "99" "7" "94049862" "94049862" "subst" "0" "00085" "COL1A2_000180" "g.94049862G>T" "" "{PMID:Lin et al., 2015:26627451}" "" "" "" "Unknown" "" "rs72658172" "0" "" "" "" "" "pathogenic" "" "0000707782" "0" "95" "7" "94049862" "94049862" "subst" "0" "03894" "COL1A2_000180" "g.94049862G>T" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs72658172" "0" "" "" "" "" "VUS" "" "0000707783" "0" "99" "7" "94049863" "94049863" "subst" "0" "00085" "COL1A2_000546" "g.94049863G>T" "" "{PMID:Rauch et al., 2014:25086671}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707784" "0" "51" "7" "94049870" "94049870" "subst" "0" "00085" "COL1A2_000363" "g.94049870T>G" "" "" "" "" "" "Unknown" "" "rs407903" "0" "" "" "" "" "VUS" "" "0000707785" "0" "99" "7" "94049871" "94049871" "subst" "0" "03704" "COL1A2_000086" "g.94049871G>T" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72658173" "0" "" "" "" "" "pathogenic" "" "0000707786" "0" "99" "7" "94049871" "94049871" "subst" "0" "03704" "COL1A2_000086" "g.94049871G>T" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72658173" "0" "" "" "" "" "pathogenic" "" "0000707787" "0" "99" "7" "94049871" "94049871" "subst" "0" "03704" "COL1A2_000086" "g.94049871G>T" "" "{PMID:Wenstrup et al., 1991:1990009}" "" "" "" "Unknown" "" "rs72658173" "0" "" "" "" "" "pathogenic" "" "0000707788" "0" "99" "7" "94049871" "94049871" "subst" "0" "00085" "COL1A2_000086" "g.94049871G>T" "" "{PMID:Wenstrup et al., 1993:8456807}" "" "" "" "Unknown" "" "rs72658173" "0" "" "" "" "" "pathogenic" "" "0000707789" "0" "99" "7" "94049871" "94049871" "subst" "0" "00085" "COL1A2_000086" "g.94049871G>T" "" "{PMID:Wenstrup et al., 1993:8456807}" "" "" "" "Unknown" "" "rs72658173" "0" "" "" "" "" "pathogenic" "" "0000707790" "0" "99" "7" "94049880" "94049880" "subst" "0" "00085" "COL1A2_000087" "g.94049880G>A" "" "{PMID:Marini et al., 2007:17078022} (Marini, personal communication)" "" "" "" "Unknown" "" "rs72658174" "0" "" "" "" "" "pathogenic" "" "0000707791" "0" "99" "7" "94049880" "94049880" "subst" "0" "03704" "COL1A2_000087" "g.94049880G>A" "" "{PMID:Bodian et al., 2009:18996919}" "" "" "" "Unknown" "" "rs72658174" "0" "" "" "" "" "pathogenic" "" "0000707792" "0" "99" "7" "94049881" "94049881" "subst" "0" "01819" "COL1A2_000471" "g.94049881G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707793" "0" "75" "7" "94049889" "94049889" "subst" "0" "03897" "COL1A2_000763" "g.94049889G>A" "" "{PMID:Zhytnik 2019:31447884}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000707794" "0" "51" "7" "94049893" "94049893" "subst" "4.08103E-6" "00085" "COL1A2_000364" "g.94049893C>G" "" "" "" "" "" "Unknown" "" "rs408535" "0" "" "" "" "" "VUS" "" "0000707795" "0" "99" "7" "94049898" "94049898" "subst" "0" "03894" "COL1A2_000672" "g.94049898G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707796" "0" "99" "7" "94049898" "94049898" "subst" "0" "03853" "COL1A2_000336" "g.94049898G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707797" "0" "95" "7" "94049898" "94049898" "subst" "0" "03897" "COL1A2_000336" "g.94049898G>C" "" "{PMID:Zhytnik 2019:31447884}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000707798" "0" "99" "7" "94049899" "94049899" "subst" "0" "00085" "COL1A2_000088" "g.94049899G>A" "" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "Unknown" "" "rs72658175" "0" "" "" "" "" "pathogenic" "" "0000707799" "11" "99" "7" "94049899" "94049899" "subst" "0" "03704" "COL1A2_000088" "g.94049899G>A" "" "{PMID:Pyott et al., 2011:21239989}" "" "" "" "Unknown" "" "rs72658175" "0" "" "" "" "" "pathogenic" "" "0000707800" "0" "99" "7" "94049907" "94049907" "subst" "0" "00085" "COL1A2_000537" "g.94049907G>A" "" "{PMID:Stephen et al., 2014:24668929}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707801" "0" "95" "7" "94049907" "94049907" "subst" "0" "03894" "COL1A2_000537" "g.94049907G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707802" "0" "95" "7" "94049907" "94049907" "subst" "0" "03894" "COL1A2_000537" "g.94049907G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707803" "0" "99" "7" "94049908" "94049908" "subst" "0" "03704" "COL1A2_000298" "g.94049908G>T" "" "{PMID:Bodian et al., 2009:18996919}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707804" "0" "99" "7" "94049916" "94049916" "subst" "4.15224E-6" "00085" "COL1A2_000181" "g.94049916G>A" "" "{PMID:Spotila et al., 1991:2052622}" "" "" "" "Unknown" "" "rs72658176" "0" "" "" "" "" "pathogenic" "" "0000707805" "20" "99" "7" "94049917" "94049917" "subst" "0" "00085" "COL1A2_000536" "g.94049917G>T" "" "{PMID:Stephen et al., 2014:24668929}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707806" "0" "99" "7" "94049925" "94049925" "subst" "0" "03885" "COL1A2_000609" "g.94049925G>C" "" "{PMID:Bardai et al.,2016:27509835}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707807" "0" "99" "7" "94049925" "94049925" "subst" "0" "00085" "COL1A2_000182" "g.94049925G>T" "" "{PMID:Venturi et al., 2006:16879195}" "" "" "" "Unknown" "" "rs72658177" "0" "" "" "" "" "pathogenic" "" "0000707808" "0" "99" "7" "94049926" "94049926" "subst" "0" "00085" "COL1A2_000631" "g.94049926G>T" "" "{PMID:Ho Duy et al., 2016:27519266}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707809" "0" "99" "7" "94049934" "94049934" "subst" "0" "03879" "COL1A2_000558" "g.94049934G>A" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707810" "11" "99" "7" "94049934" "94049934" "subst" "0" "03879" "COL1A2_000558" "g.94049934G>A" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707811" "0" "99" "7" "94049934" "94049934" "subst" "0" "03885" "COL1A2_000611" "g.94049934G>C" "" "{PMID:Bardai et al.,2016:27509835}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707812" "0" "99" "7" "94049935" "94049935" "subst" "0" "00085" "COL1A2_000089" "g.94049935G>T" "" "{PMID:Marini et al., 2007:17078022} (Cohn, King and Krakow, personal communication)" "" "" "" "Unknown" "" "rs72658178" "0" "" "" "" "" "pathogenic" "" "0000707813" "0" "79" "7" "94049944" "94049944" "subst" "0" "00475" "COL1A2_000420" "g.94049944G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707814" "11" "99" "7" "94049944" "94049944" "subst" "0" "00085" "COL1A2_000420" "g.94049944G>A" "" "{PMID:Chen et al., 2013:23548243}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707815" "0" "99" "7" "94049944" "94049944" "subst" "0" "00085" "COL1A2_000420" "g.94049944G>A" "" "{PMID:Lin et al., 2015:26627451}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707816" "0" "99" "7" "94049953" "94049953" "subst" "0" "00085" "COL1A2_000447" "g.94049953G>A" "" "{PMID:Lin et al., 2010:21488294}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707817" "0" "99" "7" "94049953" "94049953" "subst" "0" "00085" "COL1A2_000447" "g.94049953G>A" "" "{PMID:Lin et al., 2015:26627451}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707818" "0" "99" "7" "94049953" "94049953" "subst" "0" "03704" "COL1A2_000090" "g.94049953G>T" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72658179" "0" "" "" "" "" "pathogenic" "" "0000707819" "0" "99" "7" "94049953" "94049953" "subst" "0" "00085" "COL1A2_000090" "g.94049953G>T" "" "{PMID:Lund et al., 1997:9240878}" "" "" "" "Unknown" "" "rs72658179" "0" "" "" "" "" "pathogenic" "" "0000707820" "0" "95" "7" "94049953" "94049953" "subst" "0" "03897" "COL1A2_000090" "g.94049953G>T" "" "{PMID:Zhytnik 2019:31447884}" "" "" "" "Germline" "" "rs72658179" "0" "" "" "" "" "VUS" "" "0000707821" "0" "99" "7" "94049961" "94049961" "subst" "0" "03855" "COL1A2_000400" "g.94049961G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707822" "0" "99" "7" "94049961" "94049961" "subst" "0" "03704" "COL1A2_000271" "g.94049961G>T" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72658180" "0" "" "" "" "" "pathogenic" "" "0000707823" "0" "99" "7" "94050319" "94050319" "subst" "0" "03704" "COL1A2_000272" "g.94050319A>G" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72658181" "0" "" "" "" "" "pathogenic" "" "0000707824" "0" "99" "7" "94050321" "94050321" "subst" "0" "00085" "COL1A2_000091" "g.94050321G>A" "" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "Unknown" "" "rs72658182" "0" "" "" "" "" "pathogenic" "" "0000707825" "0" "95" "7" "94050321" "94050321" "subst" "0" "03894" "COL1A2_000091" "g.94050321G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707826" "21" "99" "7" "94050321" "94050321" "subst" "0" "03872" "COL1A2_000556" "g.94050321G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707827" "0" "99" "7" "94050322" "94050322" "subst" "0" "03885" "COL1A2_000612" "g.94050322G>A" "" "{PMID:Bardai et al.,2016:27509835}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707828" "0" "99" "7" "94050322" "94050322" "subst" "0" "00085" "COL1A2_000092" "g.94050322G>T" "" "{PMID:Marini et al., 2007:17078022} (Marini, personal communication)" "" "" "" "Unknown" "" "rs72658183" "0" "" "" "" "" "pathogenic" "" "0000707829" "0" "99" "7" "94050322" "94050322" "subst" "0" "00085" "COL1A2_000092" "g.94050322G>T" "" "{PMID:Wang et al., 1993:7693712}" "" "" "" "Unknown" "" "rs72658183" "0" "" "" "" "" "pathogenic" "" "0000707830" "0" "99" "7" "94050330" "94050330" "subst" "0" "03865" "COL1A2_000500" "g.94050330G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707831" "0" "95" "7" "94050330" "94050330" "subst" "0" "03894" "COL1A2_000500" "g.94050330G>C" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707832" "0" "95" "7" "94050330" "94050330" "subst" "0" "03894" "COL1A2_000500" "g.94050330G>C" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "BinMao" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707833" "0" "99" "7" "94050330" "94050330" "subst" "0" "03853" "COL1A2_000337" "g.94050330G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707834" "21" "99" "7" "94050330" "94050330" "subst" "0" "03872" "COL1A2_000337" "g.94050330G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707835" "0" "99" "7" "94050331" "94050331" "subst" "0" "03704" "COL1A2_000093" "g.94050331G>T" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72658184" "0" "" "" "" "" "pathogenic" "" "0000707836" "0" "99" "7" "94050331" "94050331" "subst" "0" "01819" "COL1A2_000093" "g.94050331G>T" "" "" "" "" "" "Unknown" "" "rs72658184" "0" "" "" "" "" "pathogenic" "" "0000707837" "0" "93" "7" "94050333" "94050333" "subst" "4.0625E-6" "03865" "COL1A2_000501" "g.94050333C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707838" "0" "99" "7" "94050339" "94050339" "subst" "0" "00085" "COL1A2_000094" "g.94050339G>A" "" "{PMID:Marini et al., 2007:17078022} (Lund, personal communication)" "" "" "" "Unknown" "" "rs72658185" "0" "" "" "" "" "pathogenic" "" "0000707839" "0" "99" "7" "94050339" "94050339" "subst" "0" "03704" "COL1A2_000094" "g.94050339G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72658185" "0" "" "" "" "" "pathogenic" "" "0000707840" "0" "99" "7" "94050339" "94050339" "subst" "0" "03704" "COL1A2_000094" "g.94050339G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72658185" "0" "" "" "" "" "pathogenic" "" "0000707841" "0" "99" "7" "94050339" "94050339" "subst" "0" "03704" "COL1A2_000094" "g.94050339G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72658185" "0" "" "" "" "" "pathogenic" "" "0000707842" "0" "99" "7" "94050339" "94050339" "subst" "0" "00085" "COL1A2_000094" "g.94050339G>A" "" "{PMID:Nuytinck et al., 1997:9272740}" "" "" "" "Unknown" "" "rs72658185" "0" "" "" "" "" "pathogenic" "" "0000707843" "0" "99" "7" "94050339" "94050339" "subst" "0" "03702" "COL1A2_000094" "g.94050339G>A" "" "" "" "" "" "Unknown" "" "rs72658185" "0" "" "" "" "" "pathogenic" "" "0000707844" "0" "99" "7" "94050339" "94050339" "subst" "0" "03855" "COL1A2_000094" "g.94050339G>A" "" "{PMID:Balasubramanian et al., 2015:25436829}" "" "" "" "Unknown" "" "rs72658185" "0" "" "" "" "" "pathogenic" "" "0000707845" "0" "99" "7" "94050339" "94050339" "subst" "0" "03870" "COL1A2_000094" "g.94050339G>A" "" "" "" "" "" "Unknown" "" "rs72658185" "0" "" "" "" "" "pathogenic" "" "0000707846" "0" "95" "7" "94050339" "94050339" "subst" "0" "03870" "COL1A2_000094" "g.94050339G>A" "" "" "" "" "" "Unknown" "" "rs72658185" "0" "" "" "" "" "VUS" "" "0000707847" "0" "99" "7" "94050339" "94050339" "subst" "0" "03865" "COL1A2_000094" "g.94050339G>A" "" "" "" "" "" "Unknown" "" "rs72658185" "0" "" "" "" "" "pathogenic" "" "0000707848" "0" "99" "7" "94050339" "94050339" "subst" "0" "03865" "COL1A2_000094" "g.94050339G>A" "" "" "" "" "" "Unknown" "" "rs72658185" "0" "" "" "" "" "pathogenic" "" "0000707849" "0" "99" "7" "94050339" "94050339" "subst" "0" "03867" "COL1A2_000094" "g.94050339G>A" "" "" "" "" "" "Unknown" "" "rs72658185" "0" "" "" "" "" "pathogenic" "" "0000707850" "0" "99" "7" "94050339" "94050339" "subst" "0" "00085" "COL1A2_000094" "g.94050339G>A" "" "{PMID:Lu et al., 2013:23934635}" "" "" "" "Unknown" "" "rs72658185" "0" "" "" "" "" "pathogenic" "" "0000707851" "0" "59" "7" "94050339" "94050339" "subst" "0" "03865" "COL1A2_000094" "g.94050339G>A" "" "" "" "" "" "Unknown" "" "rs72658185" "0" "" "" "" "" "pathogenic" "" "0000707852" "0" "99" "7" "94050339" "94050339" "subst" "0" "03865" "COL1A2_000094" "g.94050339G>A" "" "" "" "" "" "Unknown" "" "rs72658185" "0" "" "" "" "" "pathogenic" "" "0000707853" "0" "99" "7" "94050339" "94050339" "subst" "0" "03865" "COL1A2_000094" "g.94050339G>A" "" "" "" "" "" "Unknown" "" "rs72658185" "0" "" "" "" "" "pathogenic" "" "0000707854" "21" "99" "7" "94050339" "94050339" "subst" "0" "03871" "COL1A2_000094" "g.94050339G>A" "" "" "" "" "" "Unknown" "" "rs72658185" "0" "" "" "" "" "pathogenic" "" "0000707855" "0" "99" "7" "94050339" "94050339" "subst" "0" "03870" "COL1A2_000094" "g.94050339G>A" "" "" "" "" "" "Unknown" "" "rs72658185" "0" "" "" "" "" "pathogenic" "" "0000707856" "0" "99" "7" "94050339" "94050339" "subst" "0" "03870" "COL1A2_000094" "g.94050339G>A" "" "" "" "" "" "Unknown" "" "rs72658185" "0" "" "" "" "" "pathogenic" "" "0000707857" "0" "99" "7" "94050339" "94050339" "subst" "0" "03870" "COL1A2_000094" "g.94050339G>A" "" "" "" "" "" "Unknown" "" "rs72658185" "0" "" "" "" "" "pathogenic" "" "0000707858" "0" "99" "7" "94050339" "94050339" "subst" "0" "03870" "COL1A2_000094" "g.94050339G>A" "" "" "" "" "" "Unknown" "" "rs72658185" "0" "" "" "" "" "pathogenic" "" "0000707859" "0" "99" "7" "94050339" "94050339" "subst" "0" "03870" "COL1A2_000094" "g.94050339G>A" "" "" "" "" "" "Unknown" "" "rs72658185" "0" "" "" "" "" "pathogenic" "" "0000707860" "0" "99" "7" "94050339" "94050339" "subst" "0" "00085" "COL1A2_000094" "g.94050339G>A" "" "{PMID:Rolvien et al., 2018:29946973}" "" "" "" "Unknown" "" "rs72658185" "0" "" "" "" "" "pathogenic" "" "0000707861" "0" "99" "7" "94050339" "94050339" "subst" "0" "03894" "COL1A2_000094" "g.94050339G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs72658185" "0" "" "" "" "" "pathogenic" "" "0000707862" "0" "99" "7" "94050339" "94050339" "subst" "0" "00085" "COL1A2_000094" "g.94050339G>A" "" "{PMID29499418 : Mrosk et al., 2018}" "" "" "" "Unknown" "" "rs72658185" "0" "" "" "" "" "pathogenic" "" "0000707863" "0" "99" "7" "94050339" "94050339" "subst" "0" "00085" "COL1A2_000094" "g.94050339G>A" "" "{PMID:Trancozo et al., 2019:31429852}" "" "" "" "Unknown" "" "rs72658185" "0" "" "" "" "" "pathogenic" "" "0000707864" "0" "99" "7" "94050339" "94050339" "subst" "0" "00085" "COL1A2_000094" "g.94050339G>A" "" "{PMID:Trancozo et al., 2019:31429852}" "" "" "" "Unknown" "" "rs72658185" "0" "" "" "" "" "pathogenic" "" "0000707865" "10" "95" "7" "94050339" "94050339" "subst" "0" "03897" "COL1A2_000094" "g.94050339G>A" "" "{PMID:Zhytnik 2019:31447884}" "" "" "" "Germline" "" "rs72658185" "0" "" "" "" "" "VUS" "" "0000707866" "0" "99" "7" "94050339" "94050339" "subst" "0" "03865" "COL1A2_000502" "g.94050339G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707867" "0" "99" "7" "94050340" "94050340" "subst" "0" "03702" "COL1A2_000431" "g.94050340G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707868" "21" "99" "7" "94050348" "94050348" "subst" "0" "03872" "COL1A2_000581" "g.94050348G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707869" "0" "95" "7" "94050348" "94050348" "subst" "0" "03894" "COL1A2_000581" "g.94050348G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707870" "0" "95" "7" "94050348" "94050348" "subst" "0" "03894" "COL1A2_000581" "g.94050348G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707871" "0" "99" "7" "94050349" "94050349" "subst" "0" "03872" "COL1A2_000582" "g.94050349G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707872" "0" "99" "7" "94050349" "94050349" "subst" "0" "03870" "COL1A2_000582" "g.94050349G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707873" "0" "99" "7" "94050349" "94050349" "subst" "0" "03897" "COL1A2_000582" "g.94050349G>A" "" "{PMID:Zhytnik 2017:28810924}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000707874" "0" "95" "7" "94050349" "94050349" "subst" "0" "03897" "COL1A2_000582" "g.94050349G>A" "" "{PMID:Zhytnik 2019:31447884}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000707875" "0" "99" "7" "94050357" "94050357" "subst" "0" "00085" "COL1A2_000153" "g.94050357G>A" "" "{PMID:Ragunath et al., 1993:7720740}" "" "" "" "Unknown" "" "rs72658186" "0" "" "" "" "" "pathogenic" "" "0000707876" "0" "99" "7" "94050357" "94050357" "subst" "0" "00085" "COL1A2_000153" "g.94050357G>A" "" "{PMID:Zhang et al., 2011:21667357}" "" "" "" "Unknown" "" "rs72658186" "0" "" "" "" "" "pathogenic" "" "0000707877" "0" "99" "7" "94050357" "94050357" "subst" "0" "00085" "COL1A2_000153" "g.94050357G>A" "" "{PMID:Wang et al., 2015:25742658} {PMID:Wang et al., 2015:25933069}" "" "" "" "Unknown" "" "rs72658186" "0" "" "" "" "" "pathogenic" "" "0000707878" "0" "95" "7" "94050357" "94050357" "subst" "0" "03894" "COL1A2_000153" "g.94050357G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs72658186" "0" "" "" "" "" "VUS" "" "0000707879" "0" "99" "7" "94050358" "94050358" "subst" "0" "03870" "COL1A2_000629" "g.94050358G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707880" "0" "95" "7" "94050366" "94050366" "subst" "0" "03894" "COL1A2_000656" "g.94050366G>C" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707881" "0" "95" "7" "94050366" "94050366" "subst" "0" "03894" "COL1A2_000656" "g.94050366G>C" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707882" "0" "99" "7" "94051211" "94051211" "subst" "0" "03704" "COL1A2_000095" "g.94051211G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs66592844" "0" "" "" "" "" "pathogenic" "" "0000707883" "0" "99" "7" "94051211" "94051211" "subst" "0" "00085" "COL1A2_000183" "g.94051211G>C" "" "{PMID:Tsuneyoshi et al., 1991:1874719}" "" "" "" "Unknown" "" "rs66592845" "0" "" "" "" "" "pathogenic" "" "0000707884" "0" "99" "7" "94051220" "94051220" "subst" "0" "00085" "COL1A2_000184" "g.94051220G>T" "" "{PMID:Mottes et al., 1998:10627137}" "" "" "" "Unknown" "" "rs72658187" "0" "" "" "" "" "pathogenic" "" "0000707885" "21" "99" "7" "94051221" "94051221" "subst" "0" "03704" "COL1A2_000439" "g.94051221G>A" "" "{PMID:Pyott et al., 2011:21239989}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707886" "0" "99" "7" "94051230" "94051230" "subst" "0" "00085" "COL1A2_000185" "g.94051230G>A" "" "{PMID:Cohen-Solal et al., 1994:8182080}" "" "" "" "Unknown" "" "rs72658188" "0" "" "" "" "" "pathogenic" "" "0000707887" "0" "99" "7" "94051230" "94051230" "subst" "0" "03704" "COL1A2_000185" "g.94051230G>A" "" "{PMID:Bodian et al., 2009:18996919}" "" "" "" "Unknown" "" "rs72658188" "0" "" "" "" "" "pathogenic" "" "0000707888" "0" "99" "7" "94051230" "94051230" "subst" "0" "03853" "COL1A2_000338" "g.94051230G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707889" "0" "99" "7" "94051238" "94051238" "subst" "0" "00085" "COL1A2_000096" "g.94051238G>A" "" "{PMID:Marini et al., 2007:17078022} (Marini and Cabral, personal communication)" "" "" "" "Unknown" "" "rs67721375" "0" "" "" "" "" "pathogenic" "" "0000707890" "0" "99" "7" "94051238" "94051238" "subst" "0" "00085" "COL1A2_000186" "g.94051238G>C" "" "{PMID:Hartikka et al., 2004:15241796}" "" "" "" "Unknown" "" "rs67721374" "0" "" "" "" "" "pathogenic" "" "0000707891" "0" "99" "7" "94051247" "94051247" "subst" "0" "00085" "COL1A2_000097" "g.94051247G>A" "" "{PMID:Marini et al., 2007:17078022} (Marini, personal communication)" "" "" "" "Unknown" "" "rs66716547" "0" "" "" "" "" "pathogenic" "" "0000707892" "0" "99" "7" "94051247" "94051247" "subst" "0" "00085" "COL1A2_000097" "g.94051247G>A" "" "{PMID:Wang et al., 1993:7693712}" "" "" "" "Unknown" "" "rs66716547" "0" "" "" "" "" "pathogenic" "" "0000707893" "0" "99" "7" "94051247" "94051247" "subst" "0" "00085" "COL1A2_000154" "g.94051247G>T" "" "{PMID:Kataoka et al., 2007:17875077}" "" "" "" "Unknown" "" "rs66716548" "0" "" "" "" "" "pathogenic" "" "0000707894" "0" "99" "7" "94051248" "94051248" "subst" "0" "00085" "COL1A2_000098" "g.94051248G>C" "" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "Unknown" "" "rs72658189" "0" "" "" "" "" "pathogenic" "" "0000707895" "0" "95" "7" "94051248" "94051248" "subst" "0" "03894" "COL1A2_000098" "g.94051248G>C" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs72658189" "0" "" "" "" "" "VUS" "" "0000707896" "0" "99" "7" "94051252" "94051254" "dup" "0" "03704" "COL1A2_000302" "g.94051252_94051254dup" "" "{PMID:Bodian et al., 2009:18996919}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707897" "0" "99" "7" "94052269" "94052269" "subst" "0" "03853" "COL1A2_000339" "g.94052269G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707898" "0" "99" "7" "94052269" "94052269" "subst" "0" "03894" "COL1A2_000339" "g.94052269G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707899" "0" "95" "7" "94052269" "94052269" "subst" "0" "03894" "COL1A2_000339" "g.94052269G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707900" "0" "99" "7" "94052270" "94052270" "subst" "0" "03855" "COL1A2_000404" "g.94052270G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707901" "0" "99" "7" "94052278" "94052278" "subst" "0" "01819" "COL1A2_000472" "g.94052278G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707902" "0" "99" "7" "94052278" "94052278" "subst" "0" "03704" "COL1A2_000099" "g.94052278G>T" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72658190" "0" "" "" "" "" "pathogenic" "" "0000707903" "0" "99" "7" "94052279" "94052279" "subst" "0" "00085" "COL1A2_000490" "g.94052279G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707904" "0" "95" "7" "94052279" "94052279" "subst" "0" "03894" "COL1A2_000490" "g.94052279G>T" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707905" "0" "99" "7" "94052280" "94052297" "del" "0" "03704" "COL1A2_000303" "g.94052280_94052297del" "" "{PMID:Bodian et al., 2009:18996919}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707906" "0" "99" "7" "94052292" "94052300" "dup" "0" "00085" "COL1A2_000217" "g.94052292_94052300dup" "" "{PMID:Lee et al., 2006:16705691}" "" "2425_2433dup" "" "Unknown" "" "" "0" "" "" "g.94422980_94422988dup" "" "pathogenic" "" "0000707907" "0" "97" "7" "94052293" "94052293" "subst" "0" "00085" "COL1A2_000484" "g.94052293C>T" "" "{PMID:Fuccio et al., 2011:21884818}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000707908" "0" "99" "7" "94052297" "94052297" "subst" "0" "03870" "COL1A2_000330" "g.94052297G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707909" "0" "99" "7" "94052305" "94052305" "subst" "0" "00085" "COL1A2_000596" "g.94052305G>T" "" "Hrušková et al., 2015. Adv Genomics Genet 5:275-281" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707910" "0" "99" "7" "94052306" "94052306" "subst" "0" "03855" "COL1A2_000388" "g.94052306G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707911" "0" "99" "7" "94052306" "94052306" "subst" "0" "00085" "COL1A2_000388" "g.94052306G>A" "" "{PMID:Zhang et al., 2017:27748872}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707912" "0" "99" "7" "94052315" "94052315" "subst" "0" "00085" "COL1A2_000458" "g.94052315G>T" "" "{PMID:Zhang et al., 2011:21667357}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707913" "1" "33" "7" "94052321" "94052321" "subst" "8.12328E-5" "03879" "COL1A2_000560" "g.94052321G>A" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "benign" "" "0000707914" "0" "99" "7" "94052323" "94052323" "subst" "0" "00085" "COL1A2_000187" "g.94052323G>A" "" "{PMID:Lee et al., 2006:16705691}" "" "" "" "Unknown" "" "rs72658191" "0" "" "" "" "" "pathogenic" "" "0000707915" "0" "99" "7" "94052323" "94052323" "subst" "0" "00085" "COL1A2_000187" "g.94052323G>A" "" "{PMID:Trancozo et al., 2019:31429852}" "" "" "" "Unknown" "" "rs72658191" "0" "" "" "" "" "pathogenic" "" "0000707916" "0" "95" "7" "94052326" "94052326" "subst" "0" "03894" "COL1A2_000663" "g.94052326C>T" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707917" "0" "99" "7" "94052332" "94052332" "subst" "0" "00085" "COL1A2_000574" "g.94052332G>A" "" "{PMID:Wang et al., 2015:25742658} {PMID:Wang et al., 2015:25933069}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707918" "0" "99" "7" "94052332" "94052332" "subst" "0" "00085" "COL1A2_000449" "g.94052332G>T" "" "{PMID:Lin et al., 2010:21488276}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707919" "0" "99" "7" "94052350" "94052350" "subst" "0" "00085" "COL1A2_000100" "g.94052350G>A" "" "{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)" "" "" "" "Unknown" "" "rs72658192" "0" "" "" "" "" "pathogenic" "" "0000707920" "0" "99" "7" "94052350" "94052350" "subst" "0" "03865" "COL1A2_000100" "g.94052350G>A" "" "" "" "" "" "Unknown" "" "rs72658192" "0" "" "" "" "" "pathogenic" "" "0000707921" "0" "99" "7" "94052360" "94052360" "subst" "0" "03855" "COL1A2_000393" "g.94052360G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707922" "0" "95" "7" "94052360" "94052360" "subst" "0" "03894" "COL1A2_000393" "g.94052360G>T" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707923" "0" "99" "7" "94052368" "94052368" "subst" "0" "00085" "COL1A2_000235" "g.94052368G>A" "" "{PMID:Zhuang et al., 1996:8829649}" "" "" "" "Unknown" "" "rs72658193" "0" "" "" "" "" "pathogenic" "" "0000707924" "0" "99" "7" "94052368" "94052368" "subst" "0" "00085" "COL1A2_000235" "g.94052368G>A" "" "{PMID:Venturi et al., 2006:16879195}" "" "" "" "Unknown" "" "rs72658193" "0" "" "" "" "" "pathogenic" "" "0000707925" "0" "99" "7" "94052368" "94052368" "subst" "0" "01819" "COL1A2_000235" "g.94052368G>A" "" "" "" "" "" "Unknown" "" "rs72658193" "0" "" "" "" "" "pathogenic" "" "0000707926" "0" "99" "7" "94052368" "94052368" "subst" "0" "00085" "COL1A2_000235" "g.94052368G>A" "" "{PMID:Kaneto et al., 2014:24767406}" "" "" "" "Unknown" "" "rs72658193" "0" "" "" "" "" "pathogenic" "" "0000707927" "0" "99" "7" "94052368" "94052368" "subst" "0" "00085" "COL1A2_000235" "g.94052368G>A" "" "{PMID:Ho Duy et al., 2016:27519266}" "" "" "" "Unknown" "" "rs72658193" "0" "" "" "" "" "pathogenic" "" "0000707928" "0" "95" "7" "94052368" "94052368" "subst" "0" "03894" "COL1A2_000235" "g.94052368G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs72658193" "0" "" "" "" "" "VUS" "" "0000707929" "0" "99" "7" "94052386" "94052386" "subst" "0" "00085" "COL1A2_000188" "g.94052386G>A" "" "{PMID:De Paepe et al., 1997:9099837}" "" "" "" "Unknown" "" "rs72658194" "0" "" "" "" "" "pathogenic" "" "0000707930" "0" "99" "7" "94052386" "94052386" "subst" "0" "01819" "COL1A2_000188" "g.94052386G>A" "" "" "" "" "" "Unknown" "" "rs72658194" "0" "" "" "" "" "pathogenic" "" "0000707931" "0" "11" "7" "94052391" "94052391" "subst" "0.000288456" "00085" "COL1A2_000319" "g.94052391C>T" "" "{PMID:Chan et al., 2008:18272325}" "" "" "" "Unknown" "" "rs41317725" "0" "" "" "" "" "likely benign" "" "0000707932" "0" "99" "7" "94052396" "94052396" "subst" "0" "00085" "COL1A2_000592" "g.94052396G>A" "" "{PMID:Lin et al., 2015:26627451}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707933" "0" "97" "7" "94052403" "94052403" "subst" "0" "00085" "COL1A2_000638" "g.94052403G>T" "" "{PMID:Ho Duy et al., 2016:27519266}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000707934" "0" "99" "7" "94052404" "94052404" "subst" "0" "03855" "COL1A2_000392" "g.94052404G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707935" "0" "99" "7" "94052404" "94052404" "subst" "0" "01819" "COL1A2_000392" "g.94052404G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707936" "0" "99" "7" "94052404" "94052404" "subst" "0" "03865" "COL1A2_000392" "g.94052404G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707937" "0" "95" "7" "94052404" "94052404" "subst" "0" "03894" "COL1A2_000392" "g.94052404G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707938" "0" "99" "7" "94052404" "94052404" "subst" "0" "03704" "COL1A2_000101" "g.94052404G>C" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72658196" "0" "" "" "" "" "pathogenic" "" "0000707939" "0" "99" "7" "94052423" "94052423" "subst" "0" "00085" "COL1A2_000448" "g.94052423G>A" "" "{PMID:Lin et al., 2010:21488231}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707940" "0" "99" "7" "94052423" "94052423" "subst" "0" "00085" "COL1A2_000102" "g.94052423G>T" "" "{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)" "" "" "" "Unknown" "" "rs72658197" "0" "" "" "" "" "pathogenic" "" "0000707941" "0" "99" "7" "94052431" "94052431" "subst" "0" "00085" "COL1A2_000274" "g.94052431G>A" "" "{PMID:Lee et al., 2006:16705691}" "" "" "" "Unknown" "" "rs72658198" "0" "" "" "" "" "pathogenic" "" "0000707942" "0" "99" "7" "94052431" "94052431" "subst" "0" "03855" "COL1A2_000274" "g.94052431G>A" "" "" "" "" "" "Unknown" "" "rs72658198" "0" "" "" "" "" "pathogenic" "" "0000707943" "0" "99" "7" "94052431" "94052431" "subst" "0" "03879" "COL1A2_000274" "g.94052431G>A" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "rs72658198" "0" "" "" "" "" "pathogenic" "" "0000707944" "0" "99" "7" "94052431" "94052431" "subst" "0" "00085" "COL1A2_000274" "g.94052431G>A" "" "{PMID29499418 : Mrosk et al., 2018}" "" "" "" "Unknown" "" "rs72658198" "0" "" "" "" "" "pathogenic" "" "0000707945" "0" "99" "7" "94052431" "94052431" "subst" "0" "00085" "COL1A2_000274" "g.94052431G>A" "" "{PMID:Trancozo et al., 2019:31429852}" "" "" "" "Unknown" "" "rs72658198" "0" "" "" "" "" "pathogenic" "" "0000707946" "0" "99" "7" "94052431" "94052431" "subst" "0" "03865" "COL1A2_000503" "g.94052431G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707947" "0" "79" "7" "94052432" "94052432" "dup" "0" "00475" "COL1A2_000423" "g.94052432dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707948" "0" "99" "7" "94052435" "94052435" "subst" "0" "00085" "COL1A2_000273" "g.94052435G>A" "" "{PMID:Ward et al., 2001:11317364}" "" "" "" "Unknown" "" "rs72658199" "0" "" "" "" "" "pathogenic" "" "0000707949" "0" "99" "7" "94053649" "94053649" "subst" "0" "03704" "COL1A2_000299" "g.94053649G>T" "" "{PMID:Bodian et al., 2009:18996919}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707950" "0" "97" "7" "94053651" "94053651" "subst" "0.000113736" "03865" "COL1A2_000504" "g.94053651C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000707951" "0" "93" "7" "94053651" "94053651" "subst" "0.000113736" "00085" "COL1A2_000504" "g.94053651C>A" "" "{PMID:Ho Duy et al., 2016:27519266}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707952" "0" "99" "7" "94053651" "94053651" "subst" "0.000113736" "03894" "COL1A2_000504" "g.94053651C>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000707953" "11" "99" "7" "94053651" "94053651" "subst" "0.000113736" "00085" "COL1A2_000504" "g.94053651C>A" "" "{PMID:Wang et al., 2019:30984112}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707954" "11" "99" "7" "94053651" "94053651" "subst" "0.000113736" "00085" "COL1A2_000504" "g.94053651C>A" "" "{PMID:Wang et al., 2019:30984112}" "" "" "" "Unknown" "" "rs150179964" "0" "" "" "" "" "VUS" "" "0000707955" "0" "99" "7" "94053657" "94053657" "subst" "0" "00085" "COL1A2_000190" "g.94053657G>A" "" "{PMID:Hartikka et al., 2004:15241796}" "" "" "" "Unknown" "" "rs72658200" "0" "" "" "" "" "pathogenic" "" "0000707956" "0" "99" "7" "94053657" "94053657" "subst" "0" "00085" "COL1A2_000190" "g.94053657G>A" "" "{PMID:Barkova et al., 2014:24863959}" "" "" "" "Unknown" "" "rs72658200" "0" "" "" "" "" "pathogenic" "" "0000707957" "0" "99" "7" "94053681" "94053683" "del" "0" "03870" "COL1A2_000454" "g.94053681_94053683del" "" "{PMID:Gentile et al., 2013:22753364}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707958" "11" "99" "7" "94053703" "94053703" "subst" "0" "03870" "COL1A2_000429" "g.94053703G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707959" "0" "99" "7" "94053703" "94053703" "subst" "0" "03870" "COL1A2_000429" "g.94053703G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707960" "0" "99" "7" "94053703" "94053703" "subst" "0" "03870" "COL1A2_000429" "g.94053703G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707961" "0" "99" "7" "94053711" "94053711" "subst" "0" "00085" "COL1A2_000191" "g.94053711G>T" "" "{PMID:Fertala et al., 1993:8424758}" "" "" "" "Unknown" "" "rs72658201" "0" "" "" "" "" "pathogenic" "" "0000707962" "0" "99" "7" "94053720" "94053720" "subst" "0" "00085" "COL1A2_000103" "g.94053720G>A" "" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "Unknown" "" "rs72658202" "0" "" "" "" "" "pathogenic" "" "0000707963" "0" "99" "7" "94053720" "94053720" "subst" "0" "00085" "COL1A2_000103" "g.94053720G>A" "" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "Unknown" "" "rs72658202" "0" "" "" "" "" "pathogenic" "" "0000707964" "0" "99" "7" "94053721" "94053721" "subst" "0" "03855" "COL1A2_000389" "g.94053721G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707967" "0" "99" "7" "94053730" "94053730" "subst" "0" "01819" "COL1A2_000473" "g.94053730G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707968" "0" "33" "7" "94053745" "94053745" "subst" "1.2184E-5" "03855" "COL1A2_000386" "g.94053745C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "benign" "" "0000707969" "0" "99" "7" "94053756" "94053756" "subst" "0" "03704" "COL1A2_000307" "g.94053756G>A" "" "{PMID:Bodian et al., 2009:18996919}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707970" "0" "99" "7" "94054426" "94054426" "subst" "0" "03704" "COL1A2_000275" "g.94054426T>G" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72659303" "0" "" "" "" "" "pathogenic" "" "0000707971" "0" "99" "7" "94054430" "94054430" "subst" "0" "00085" "COL1A2_000192" "g.94054430G>A" "" "{PMID:Lund et al., 1996:8800927}" "" "" "" "Unknown" "" "rs72659304" "0" "" "" "" "" "pathogenic" "" "0000707972" "0" "99" "7" "94054439" "94054439" "subst" "0" "00085" "COL1A2_000193" "g.94054439G>A" "" "{PMID:Grange et al., 1990:1696002}" "" "" "" "Unknown" "" "rs72659305" "0" "" "" "" "" "pathogenic" "" "0000707973" "0" "99" "7" "94054456" "94054456" "subst" "4.06286E-6" "03704" "COL1A2_000104" "g.94054456G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72659306" "0" "" "" "" "" "pathogenic" "" "0000707974" "0" "99" "7" "94054456" "94054456" "subst" "4.06286E-6" "00085" "COL1A2_000104" "g.94054456G>A" "" "{PMID:Nuytinck et al., 1997:9272740}" "" "" "" "Unknown" "" "rs72659306" "0" "" "" "" "" "pathogenic" "" "0000707975" "11" "99" "7" "94054456" "94054456" "subst" "4.06286E-6" "03704" "COL1A2_000104" "g.94054456G>A" "" "{PMID:Pyott et al., 2011:21239989}" "" "" "" "Unknown" "" "rs72659306" "0" "" "" "" "" "pathogenic" "" "0000707976" "0" "99" "7" "94054465" "94054465" "subst" "0" "00085" "COL1A2_000194" "g.94054465G>C" "" "{PMID:Hartikka et al., 2004:15241796}" "" "" "" "Unknown" "" "rs72659307" "0" "" "" "" "" "pathogenic" "" "0000707977" "0" "99" "7" "94054467" "94054484" "del" "0" "03704" "COL1A2_000218" "g.94054467_94054484del" "" "{PMID:Pace et al., 2001:11668615}" "" "" "" "Unknown" "" "rs74315140" "0" "" "" "" "" "pathogenic" "" "0000707978" "0" "93" "7" "94054472" "94054472" "subst" "0.00015438" "00085" "COL1A2_000548" "g.94054472G>A" "" "{PMID:Wu et al., 2014:25289482}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707979" "0" "13" "7" "94054472" "94054472" "subst" "0.00015438" "03879" "COL1A2_000548" "g.94054472G>A" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000707980" "0" "53" "7" "94054495" "94054495" "subst" "0" "03855" "COL1A2_000403" "g.94054495A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707981" "0" "99" "7" "94054500" "94054501" "delins" "0" "03891" "COL1A2_000642" "g.94054500_94054501delinsAA" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707982" "11" "99" "7" "94054501" "94054501" "subst" "0" "00085" "COL1A2_000576" "g.94054501G>A" "" "{PMID:Yuan et al., 2015:25835785}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707983" "0" "99" "7" "94054501" "94054501" "subst" "0" "00085" "COL1A2_000105" "g.94054501G>C" "" "{PMID:Marini et al., 2007:17078022} (Lund, personal communication)" "" "" "" "Unknown" "" "rs72659308" "0" "" "" "" "" "pathogenic" "" "0000707984" "0" "99" "7" "94054501" "94054501" "subst" "0" "00085" "COL1A2_000105" "g.94054501G>C" "" "{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)" "" "" "" "Unknown" "" "rs72659308" "0" "" "" "" "" "pathogenic" "" "0000707985" "0" "99" "7" "94054502" "94054502" "subst" "0" "00085" "COL1A2_000554" "g.94054502G>A" "" "{PMID:Barkova et al., 2014:24863959}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707986" "0" "99" "7" "94054510" "94054510" "subst" "4.06349E-5" "03872" "COL1A2_000578" "g.94054510G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707987" "0" "99" "7" "94054511" "94054511" "subst" "0" "00085" "COL1A2_000552" "g.94054511G>A" "" "{PMID:Barkova et al., 2014:24863959}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707988" "0" "99" "7" "94054519" "94054519" "subst" "0" "00085" "COL1A2_000743" "g.94054519G>A" "" "{PMID:Zhang et al., 2017:27748872}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707989" "0" "99" "7" "94054520" "94054520" "subst" "0" "03872" "COL1A2_000579" "g.94054520G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707990" "0" "95" "7" "94054529" "94054529" "subst" "0" "03894" "COL1A2_000648" "g.94054529G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707991" "0" "95" "7" "94054529" "94054529" "subst" "0" "03894" "COL1A2_000648" "g.94054529G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707992" "21" "77" "7" "94054532" "94054532" "subst" "3.25198E-5" "00085" "COL1A2_000689" "g.94054532G>A" "" "{PMID: Mrosk et al., 2018:29499418}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000707993" "0" "99" "7" "94054931" "94054931" "subst" "0" "00085" "COL1A2_000635" "g.94054931G>A" "" "{PMID:Ho Duy et al., 2016:27519266}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707994" "0" "99" "7" "94054931" "94054931" "subst" "0" "00085" "COL1A2_000635" "g.94054931G>A" "" "{PMID:Ho Duy et al., 2016:27519266}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707995" "0" "77" "7" "94054938" "94054938" "subst" "0" "03861" "COL1A2_000517" "g.94054938A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000707996" "0" "99" "7" "94054941" "94054941" "subst" "0" "00085" "COL1A2_000450" "g.94054941G>A" "" "{PMID:Chen et al., 2006:16470573}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707997" "0" "99" "7" "94054949" "94054949" "subst" "0" "00085" "COL1A2_000106" "g.94054949G>T" "" "{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)" "" "" "" "Unknown" "" "rs72659309" "0" "" "" "" "" "pathogenic" "" "0000707998" "0" "99" "7" "94054959" "94054959" "subst" "0" "03885" "COL1A2_000614" "g.94054959G>T" "" "{PMID:Bardai et al.,2016:27509835}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000707999" "0" "99" "7" "94054967" "94054967" "subst" "0" "01819" "COL1A2_000474" "g.94054967G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708000" "0" "99" "7" "94054968" "94054968" "subst" "0" "03853" "COL1A2_000340" "g.94054968G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708001" "0" "99" "7" "94054976" "94054976" "subst" "0" "03704" "COL1A2_000276" "g.94054976G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72659310" "0" "" "" "" "" "pathogenic" "" "0000708002" "0" "99" "7" "94054976" "94054976" "subst" "0" "00085" "COL1A2_000276" "g.94054976G>A" "" "{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)" "" "" "" "Unknown" "" "rs72659310" "0" "" "" "" "" "pathogenic" "" "0000708003" "0" "99" "7" "94054976" "94054976" "subst" "0" "00085" "COL1A2_000276" "g.94054976G>A" "" "{PMID:Marini et al., 2007:17078022} (Cohn, King and Krakow, personal communication)" "" "" "" "Unknown" "" "rs72659310" "0" "" "" "" "" "pathogenic" "" "0000708004" "0" "99" "7" "94054976" "94054976" "subst" "0" "00085" "COL1A2_000276" "g.94054976G>A" "" "{PMID:Hartikka et al., 2004:15241796}" "" "" "" "Unknown" "" "rs72659310" "0" "" "" "" "" "pathogenic" "" "0000708005" "0" "99" "7" "94054976" "94054976" "subst" "0" "03879" "COL1A2_000276" "g.94054976G>A" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "rs72659310" "0" "" "" "" "" "pathogenic" "" "0000708006" "0" "99" "7" "94054976" "94054976" "subst" "0" "03879" "COL1A2_000276" "g.94054976G>A" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "rs72659310" "0" "" "" "" "" "pathogenic" "" "0000708007" "0" "99" "7" "94054976" "94054976" "subst" "0" "03870" "COL1A2_000276" "g.94054976G>A" "" "" "" "" "" "Unknown" "" "rs72659310" "0" "" "" "" "" "pathogenic" "" "0000708008" "21" "99" "7" "94054976" "94054976" "subst" "0" "00085" "COL1A2_000276" "g.94054976G>A" "" "{PMID:Chandler et al., 2018:29595812}" "" "" "" "Unknown" "" "rs72659310" "0" "" "" "" "" "pathogenic" "" "0000708009" "0" "95" "7" "94054976" "94054976" "subst" "0" "03894" "COL1A2_000276" "g.94054976G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs72659310" "0" "" "" "" "" "VUS" "" "0000708010" "0" "95" "7" "94054976" "94054976" "subst" "0" "03894" "COL1A2_000276" "g.94054976G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs72659310" "0" "" "" "" "" "VUS" "" "0000708011" "0" "95" "7" "94054976" "94054976" "subst" "0" "03894" "COL1A2_000276" "g.94054976G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs72659310" "0" "" "" "" "" "VUS" "" "0000708012" "0" "99" "7" "94056948" "94056948" "subst" "0" "03885" "COL1A2_000613" "g.94056948G>A" "" "{PMID:Bardai et al.,2016:27509835}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708013" "0" "99" "7" "94055062" "94055062" "subst" "0" "00085" "COL1A2_000107" "g.94055062G>A" "" "{PMID:Marini et al., 2007:17078022} (Lund, personal communication)" "" "" "" "Unknown" "" "rs72659311" "0" "" "" "" "" "pathogenic" "" "0000708014" "0" "99" "7" "94055071" "94055071" "subst" "0" "00085" "COL1A2_000108" "g.94055071G>A" "" "{PMID:Marini et al., 2007:17078022} (Mottes and Lievore, personal communication)" "" "" "" "Unknown" "" "rs72659312" "0" "" "" "" "" "pathogenic" "" "0000708015" "0" "99" "7" "94055071" "94055071" "subst" "0" "00085" "COL1A2_000108" "g.94055071G>A" "" "{PMID:Marini et al., 2007:17078022} (Cohn, King and Krakow, personal communication)" "" "" "" "Unknown" "" "rs72659312" "0" "" "" "" "" "pathogenic" "" "0000708016" "0" "99" "7" "94055071" "94055071" "subst" "0" "03704" "COL1A2_000108" "g.94055071G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72659312" "0" "" "" "" "" "pathogenic" "" "0000708017" "0" "99" "7" "94055071" "94055071" "subst" "0" "00085" "COL1A2_000108" "g.94055071G>A" "" "{PMID:Rose et al., 1994:8081394}" "" "" "" "Unknown" "" "rs72659312" "0" "" "" "" "" "pathogenic" "" "0000708018" "0" "99" "7" "94055071" "94055071" "subst" "0" "00085" "COL1A2_000108" "g.94055071G>A" "" "{PMID:Rose et al., 1994:8081394}" "" "" "" "Unknown" "" "rs72659312" "0" "" "" "" "" "pathogenic" "" "0000708019" "0" "99" "7" "94055071" "94055071" "subst" "0" "00085" "COL1A2_000108" "g.94055071G>A" "" "{PMID:Nuytinck et al., 1997:9272740}" "" "" "" "Unknown" "" "rs72659312" "0" "" "" "" "" "pathogenic" "" "0000708020" "0" "99" "7" "94055071" "94055071" "subst" "0" "03702" "COL1A2_000108" "g.94055071G>A" "" "Lund, personal communication" "" "" "" "Unknown" "" "rs72659312" "0" "" "" "" "" "pathogenic" "" "0000708021" "0" "99" "7" "94055071" "94055071" "subst" "0" "03704" "COL1A2_000108" "g.94055071G>A" "" "{PMID:Bodian et al., 2009:18996919}" "" "" "" "Unknown" "" "rs72659312" "0" "" "" "" "" "pathogenic" "" "0000708022" "0" "99" "7" "94055071" "94055071" "subst" "0" "01819" "COL1A2_000108" "g.94055071G>A" "" "" "" "" "" "Unknown" "" "rs72659312" "0" "" "" "" "" "pathogenic" "" "0000708023" "0" "99" "7" "94055089" "94055089" "subst" "0" "00085" "COL1A2_000236" "g.94055089G>A" "" "{PMID:Lamande et al., 1989:2777764}" "" "" "" "Unknown" "" "rs66507857" "0" "" "" "" "" "pathogenic" "" "0000708024" "0" "99" "7" "94055089" "94055089" "subst" "0" "03704" "COL1A2_000109" "g.94055089G>T" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs66507857" "0" "" "" "" "" "pathogenic" "" "0000708025" "0" "99" "7" "94055090" "94055090" "subst" "0" "03704" "COL1A2_000300" "g.94055090G>A" "" "{PMID:Bodian et al., 2009:18996919}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708026" "0" "95" "7" "94055099" "94055099" "subst" "0" "03894" "COL1A2_000662" "g.94055099G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000708027" "0" "99" "7" "94055108" "94055108" "subst" "0" "03855" "COL1A2_000398" "g.94055108G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708028" "0" "59" "7" "94055108" "94055108" "subst" "0" "03861" "COL1A2_000398" "g.94055108G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708029" "0" "99" "7" "94055108" "94055108" "subst" "0" "03872" "COL1A2_000398" "g.94055108G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708030" "0" "11" "7" "94055130" "94055130" "subst" "0.000501617" "03704" "COL1A2_000314" "g.94055130C>T" "" "{PMID:Bodian et al., 2009:18996919}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000708031" "0" "99" "7" "94055135" "94055135" "subst" "0" "00085" "COL1A2_000110" "g.94055135G>A" "" "{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)" "" "" "" "Unknown" "" "rs72659313" "0" "" "" "" "" "pathogenic" "" "0000708032" "0" "99" "7" "94055144" "94055144" "subst" "0" "00085" "COL1A2_000111" "g.94055144G>A" "" "{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)" "" "" "" "Unknown" "" "rs67609235" "0" "" "" "" "" "pathogenic" "" "0000708033" "0" "99" "7" "94055144" "94055144" "subst" "0" "00085" "COL1A2_000111" "g.94055144G>A" "" "{PMID:Stephen et al., 2014:24668929}" "" "" "" "Unknown" "" "rs67609235" "0" "" "" "" "" "pathogenic" "" "0000708034" "0" "99" "7" "94055144" "94055144" "subst" "0" "00085" "COL1A2_000111" "g.94055144G>A" "" "{PMID:Zhang et al., 2017:27748872}" "" "" "" "Unknown" "" "rs67609235" "0" "" "" "" "" "pathogenic" "" "0000708035" "0" "99" "7" "94055144" "94055144" "subst" "0" "00085" "COL1A2_000195" "g.94055144G>T" "" "{PMID:Lund et al., 1999:10408781}" "" "" "" "Unknown" "" "rs67609234" "0" "" "" "" "" "pathogenic" "" "0000708036" "0" "99" "7" "94055144" "94055144" "subst" "0" "03879" "COL1A2_000195" "g.94055144G>T" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "rs67609234" "0" "" "" "" "" "pathogenic" "" "0000708037" "0" "99" "7" "94055144" "94055144" "subst" "0" "03879" "COL1A2_000195" "g.94055144G>T" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "rs67609234" "0" "" "" "" "" "pathogenic" "" "0000708038" "0" "95" "7" "94055159" "94055159" "subst" "4.63967E-5" "00085" "COL1A2_000686" "g.94055159G>A" "" "{PMID:Mohd Nawawi et al., 2018:29807018}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000708039" "0" "95" "7" "94055159" "94055159" "subst" "4.63967E-5" "00085" "COL1A2_000686" "g.94055159G>A" "" "{PMID:Mohd Nawawi et al., 2018:29807018}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000708040" "0" "95" "7" "94055170" "94055171" "del" "0" "03894" "COL1A2_000673" "g.94055170_94055171del" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "effect on splicing predicted from mini gene splicing assay" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000708041" "0" "99" "7" "94055308" "94055308" "subst" "0" "00085" "COL1A2_000277" "g.94055308A>G" "" "{PMID:Pollitt et al., 2006:16786509}" "" "" "" "Unknown" "" "rs72659314" "0" "" "" "" "" "pathogenic" "" "0000708042" "0" "99" "7" "94055310" "94055310" "subst" "0" "03853" "COL1A2_000323" "g.94055310G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708043" "0" "95" "7" "94055310" "94055310" "subst" "0" "03894" "COL1A2_000323" "g.94055310G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000708044" "0" "99" "7" "94055311" "94055311" "subst" "0" "00085" "COL1A2_000197" "g.94055311G>A" "" "{PMID:Pollitt et al., 2006:16786509}" "" "" "" "Unknown" "" "rs67422094" "0" "" "" "" "" "pathogenic" "" "0000708045" "0" "99" "7" "94055311" "94055311" "subst" "0" "00085" "COL1A2_000112" "g.94055311G>T" "" "{PMID:Marini et al., 2007:17078022} (Nuytinck and De Paepe, personal communication)" "" "" "" "Unknown" "" "rs67422093" "0" "" "" "" "" "pathogenic" "" "0000708046" "0" "99" "7" "94055319" "94055319" "subst" "0" "03855" "COL1A2_000395" "g.94055319G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708049" "0" "99" "7" "94055326" "94055334" "dup" "0" "00085" "COL1A2_000219" "g.94055326_94055334dup" "" "{PMID:Lee et al., 2006:16705691}" "" "2959_2967dup" "" "Unknown" "" "" "0" "" "" "g.94426014_94426022dup" "" "pathogenic" "" "0000708050" "0" "99" "7" "94055326" "94055334" "dup" "0" "00085" "COL1A2_000219" "g.94055326_94055334dup" "" "{PMID:Zhang et al., 2011:21667357}" "" "2959_2967dup" "" "Unknown" "" "" "0" "" "" "g.94426014_94426022dup" "" "pathogenic" "" "0000708051" "0" "99" "7" "94055329" "94055329" "subst" "0" "00085" "COL1A2_000113" "g.94055329G>T" "" "{PMID:Marini et al., 2007:17078022} (Marini and Cabral, personal communication)" "" "" "" "Unknown" "" "rs72659315" "0" "" "" "" "" "pathogenic" "" "0000708052" "0" "99" "7" "94055330" "94055347" "dup" "0" "03704" "COL1A2_000220" "g.94055330_94055347dup" "" "{PMID:Pace et al., 2001:11668615}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708053" "0" "99" "7" "94055330" "94055347" "dup" "0" "00085" "COL1A2_000220" "g.94055330_94055347dup" "" "{PMID:Horwitz et al., 1999:10086387}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708054" "0" "99" "7" "94055338" "94055338" "subst" "0" "00085" "COL1A2_000198" "g.94055338G>T" "" "{PMID:Venturi et al., 2006:16879195}" "" "" "" "Unknown" "" "rs72659316" "0" "" "" "" "" "pathogenic" "" "0000708055" "0" "99" "7" "94055338" "94055338" "subst" "0" "03870" "COL1A2_000198" "g.94055338G>T" "" "" "" "" "" "Unknown" "" "rs72659316" "0" "" "" "" "" "pathogenic" "" "0000708056" "0" "99" "7" "94055338" "94055338" "subst" "0" "01819" "COL1A2_000198" "g.94055338G>T" "" "" "" "" "" "Unknown" "" "rs72659316" "0" "" "" "" "" "pathogenic" "" "0000708057" "0" "99" "7" "94055347" "94055347" "subst" "0" "03704" "COL1A2_000440" "g.94055347G>A" "" "{PMID:Pyott et al., 2011:21239989}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708058" "11" "99" "7" "94055355" "94055355" "subst" "0" "00085" "COL1A2_000693" "g.94055355G>A" "" "{PMID:Mrosk et al., 2018:29499418}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708059" "0" "99" "7" "94055356" "94055356" "subst" "0" "00085" "COL1A2_000196" "g.94055356G>A" "" "{PMID:Baldwin et al., 1989:2914942}" "" "" "" "Unknown" "" "rs72659317" "0" "" "" "" "" "pathogenic" "" "0000708060" "0" "99" "7" "94055745" "94055745" "subst" "0" "00085" "COL1A2_000384" "g.94055745G>A" "" "{PMID:Le Blanc et al., 2005:15940052}" "" "g33743 G/A, bases numbered according to AF004877" "" "Unknown" "" "" "0" "" "" "g.94426433G>A" "" "pathogenic" "" "0000708061" "0" "99" "7" "94055745" "94055745" "subst" "0" "00085" "COL1A2_000384" "g.94055745G>A" "" "{PMID:Gotherstrom et al., 2013:24342908}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708062" "0" "99" "7" "94055745" "94055745" "subst" "0" "03879" "COL1A2_000384" "g.94055745G>A" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708063" "0" "99" "7" "94055745" "94055745" "subst" "0" "03855" "COL1A2_000384" "g.94055745G>A" "" "{PMID:Pollitt et al., 2006:16786509}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708064" "0" "99" "7" "94055745" "94055745" "subst" "0" "00085" "COL1A2_000384" "g.94055745G>A" "" "{PMID:Kidszun et al., 2016:27244824}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708065" "0" "99" "7" "94055753" "94055753" "subst" "0" "03704" "COL1A2_000114" "g.94055753G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72659318" "0" "" "" "" "" "pathogenic" "" "0000708066" "0" "11" "7" "94055755" "94055755" "subst" "0.00151308" "03704" "COL1A2_000315" "g.94055755C>T" "" "{PMID:Bodian et al., 2009:18996919}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000708067" "0" "99" "7" "94055771" "94055771" "subst" "0" "03704" "COL1A2_000115" "g.94055771G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72659319" "0" "" "" "" "" "pathogenic" "" "0000708068" "0" "99" "7" "94055771" "94055771" "subst" "0" "03704" "COL1A2_000115" "g.94055771G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72659319" "0" "" "" "" "" "pathogenic" "" "0000708069" "0" "99" "7" "94055771" "94055771" "subst" "0" "00085" "COL1A2_000115" "g.94055771G>A" "" "{PMID:Marini et al., 2007:17078022} (Nuytinck and De Paepe, personal communication)" "" "" "" "Unknown" "" "rs72659319" "0" "" "" "" "" "pathogenic" "" "0000708070" "0" "99" "7" "94055771" "94055771" "subst" "0" "00085" "COL1A2_000115" "g.94055771G>A" "" "{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)" "" "" "" "Unknown" "" "rs72659319" "0" "" "" "" "" "pathogenic" "" "0000708071" "0" "99" "7" "94055771" "94055771" "subst" "0" "00085" "COL1A2_000115" "g.94055771G>A" "" "{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)" "" "" "" "Unknown" "" "rs72659319" "0" "" "" "" "" "pathogenic" "" "0000708072" "0" "99" "7" "94055771" "94055771" "subst" "0" "00085" "COL1A2_000115" "g.94055771G>A" "" "{PMID:Marini et al., 2007:17078022} (Marini and Barnesication, personal communication)" "" "" "" "Unknown" "" "rs72659319" "0" "" "" "" "" "pathogenic" "" "0000708073" "0" "99" "7" "94055771" "94055771" "subst" "0" "00085" "COL1A2_000115" "g.94055771G>A" "" "{PMID:Marini et al., 2007:17078022} (Marini and Cabral, personal communication)" "" "" "" "Unknown" "" "rs72659319" "0" "" "" "" "" "pathogenic" "" "0000708074" "0" "99" "7" "94055771" "94055771" "subst" "0" "00085" "COL1A2_000115" "g.94055771G>A" "" "{PMID:Marini et al., 2007:17078022} (Lund, personal communication)" "" "" "" "Unknown" "" "rs72659319" "0" "" "" "" "" "pathogenic" "" "0000708075" "0" "99" "7" "94055771" "94055771" "subst" "0" "00085" "COL1A2_000115" "g.94055771G>A" "" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "Unknown" "" "rs72659319" "0" "" "" "" "" "pathogenic" "" "0000708076" "0" "99" "7" "94055771" "94055771" "subst" "0" "00085" "COL1A2_000115" "g.94055771G>A" "" "{PMID:Marini et al., 1993:8094076}" "" "" "" "Unknown" "" "rs72659319" "0" "" "" "" "" "pathogenic" "" "0000708077" "0" "99" "7" "94055771" "94055771" "subst" "0" "00085" "COL1A2_000115" "g.94055771G>A" "" "{PMID:Sztrolovics et al., 1993:8401517}" "" "" "" "Unknown" "" "rs72659319" "0" "" "" "" "" "pathogenic" "" "0000708078" "0" "99" "7" "94055771" "94055771" "subst" "0" "00085" "COL1A2_000115" "g.94055771G>A" "" "{PMID:Forlino et al., 1997:9367795}" "" "" "" "Unknown" "" "rs72659319" "0" "" "" "" "" "pathogenic" "" "0000708079" "0" "99" "7" "94055771" "94055771" "subst" "0" "00085" "COL1A2_000115" "g.94055771G>A" "" "{PMID:Hartikka et al., 2004:15241796}" "" "" "" "Unknown" "" "rs72659319" "0" "" "" "" "" "pathogenic" "" "0000708080" "0" "99" "7" "94055771" "94055771" "subst" "0" "00085" "COL1A2_000115" "g.94055771G>A" "" "{PMID:Lee et al., 2006:16705691}" "" "" "" "Unknown" "" "rs72659319" "0" "" "" "" "" "pathogenic" "" "0000708081" "0" "99" "7" "94055771" "94055771" "subst" "0" "03870" "COL1A2_000115" "g.94055771G>A" "" "" "" "" "" "Unknown" "" "rs72659319" "0" "" "" "" "" "pathogenic" "" "0000708082" "0" "99" "7" "94055771" "94055771" "subst" "0" "03855" "COL1A2_000115" "g.94055771G>A" "" "" "" "" "" "Unknown" "" "rs72659319" "0" "" "" "" "" "pathogenic" "" "0000708083" "0" "99" "7" "94055771" "94055771" "subst" "0" "01819" "COL1A2_000115" "g.94055771G>A" "" "" "" "" "" "Unknown" "" "rs72659319" "0" "" "" "" "" "pathogenic" "" "0000708084" "0" "99" "7" "94055771" "94055771" "subst" "0" "01819" "COL1A2_000115" "g.94055771G>A" "" "" "" "" "" "Unknown" "" "rs72659319" "0" "" "" "" "" "pathogenic" "" "0000708085" "0" "99" "7" "94055771" "94055771" "subst" "0" "03865" "COL1A2_000115" "g.94055771G>A" "" "" "" "" "" "Unknown" "" "rs72659319" "0" "" "" "" "" "pathogenic" "" "0000708086" "0" "99" "7" "94055771" "94055771" "subst" "0" "03865" "COL1A2_000115" "g.94055771G>A" "" "" "" "" "" "Unknown" "" "rs72659319" "0" "" "" "" "" "pathogenic" "" "0000708087" "0" "99" "7" "94055771" "94055771" "subst" "0" "03865" "COL1A2_000115" "g.94055771G>A" "" "" "" "" "" "Unknown" "" "rs72659319" "0" "" "" "" "" "pathogenic" "" "0000708088" "21" "99" "7" "94055771" "94055771" "subst" "0" "03872" "COL1A2_000115" "g.94055771G>A" "" "" "" "" "" "Unknown" "" "rs72659319" "0" "" "" "" "" "pathogenic" "" "0000708089" "0" "99" "7" "94055771" "94055771" "subst" "0" "03879" "COL1A2_000115" "g.94055771G>A" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "rs72659319" "0" "" "" "" "" "pathogenic" "" "0000708090" "0" "99" "7" "94055771" "94055771" "subst" "0" "00085" "COL1A2_000115" "g.94055771G>A" "" "{PMID:Stephen et al., 2015:25450603}" "" "" "" "Unknown" "" "rs72659319" "0" "" "" "" "" "pathogenic" "" "0000708091" "0" "95" "7" "94055771" "94055771" "subst" "0" "01819" "COL1A2_000115" "g.94055771G>A" "" "{PMID:Essawi 2018:29150909}, {DOI:Essawi 2018:10.1002/mgg3.331}" "" "" "" "Unknown" "" "rs72659319" "0" "" "" "" "" "VUS" "" "0000708092" "0" "99" "7" "94055771" "94055771" "subst" "0" "03870" "COL1A2_000115" "g.94055771G>A" "" "" "" "" "" "Unknown" "" "rs72659319" "0" "" "" "" "" "pathogenic" "" "0000708093" "0" "99" "7" "94055771" "94055771" "subst" "0" "03870" "COL1A2_000115" "g.94055771G>A" "" "" "" "" "" "Unknown" "" "rs72659319" "0" "" "" "" "" "pathogenic" "" "0000708094" "0" "99" "7" "94055771" "94055771" "subst" "0" "03870" "COL1A2_000115" "g.94055771G>A" "" "" "" "" "" "Unknown" "" "rs72659319" "0" "" "" "" "" "pathogenic" "" "0000708095" "0" "99" "7" "94055771" "94055771" "subst" "0" "00085" "COL1A2_000115" "g.94055771G>A" "" "{PMID:Ho Duy et al., 2016:27519266}" "" "" "" "Unknown" "" "rs72659319" "0" "" "" "" "" "pathogenic" "" "0000708096" "0" "99" "7" "94055771" "94055771" "subst" "0" "03894" "COL1A2_000115" "g.94055771G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs72659319" "0" "" "" "" "" "pathogenic" "" "0000708097" "0" "99" "7" "94055771" "94055771" "subst" "0" "03894" "COL1A2_000115" "g.94055771G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs72659319" "0" "" "" "" "" "pathogenic" "" "0000708098" "0" "99" "7" "94055771" "94055771" "subst" "0" "03894" "COL1A2_000115" "g.94055771G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs72659319" "0" "" "" "" "" "pathogenic" "" "0000708099" "0" "99" "7" "94055771" "94055771" "subst" "0" "03894" "COL1A2_000115" "g.94055771G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs72659319" "0" "" "" "" "" "pathogenic" "" "0000708100" "0" "99" "7" "94055771" "94055771" "subst" "0" "03894" "COL1A2_000115" "g.94055771G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs72659319" "0" "" "" "" "" "pathogenic" "" "0000708101" "0" "99" "7" "94055771" "94055771" "subst" "0" "03894" "COL1A2_000115" "g.94055771G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs72659319" "0" "" "" "" "" "pathogenic" "" "0000708102" "0" "99" "7" "94055771" "94055771" "subst" "0" "03894" "COL1A2_000115" "g.94055771G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs72659319" "0" "" "" "" "" "pathogenic" "" "0000708103" "0" "99" "7" "94055771" "94055771" "subst" "0" "00085" "COL1A2_000115" "g.94055771G>A" "" "{PMID:Mohd Nawawi et al., 2018:29807018}" "" "" "" "Unknown" "" "rs72659319" "0" "" "" "" "" "pathogenic" "" "0000708104" "0" "95" "7" "94055771" "94055771" "subst" "0" "03897" "COL1A2_000115" "g.94055771G>A" "" "{PMID:Zhytnik 2019:31447884}, {PMID:Zhytnik 2020:32166892}" "" "" "" "Germline/De novo (untested)" "" "rs72659319" "0" "" "" "" "" "VUS" "" "0000708105" "0" "99" "7" "94055780" "94055780" "subst" "0" "01819" "COL1A2_000475" "g.94055780G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708106" "0" "99" "7" "94055780" "94055780" "subst" "0" "00085" "COL1A2_000116" "g.94055780G>C" "" "{PMID:Marini et al., 2007:17078022} (Nuytinck and De Paepe, personal communication)" "" "" "" "Unknown" "" "rs72659320" "0" "" "" "" "" "pathogenic" "" "0000708107" "0" "99" "7" "94055780" "94055780" "subst" "0" "00085" "COL1A2_000116" "g.94055780G>C" "" "{PMID:Marini et al., 2007:17078022} (Marini, personal communication)" "" "" "" "Unknown" "" "rs72659320" "0" "" "" "" "" "pathogenic" "" "0000708108" "0" "99" "7" "94055780" "94055780" "subst" "0" "03872" "COL1A2_000116" "g.94055780G>C" "" "" "" "" "" "Unknown" "" "rs72659320" "0" "" "" "" "" "pathogenic" "" "0000708109" "11" "11" "7" "94055784" "94055784" "subst" "9.86794E-5" "03879" "COL1A2_000567" "g.94055784C>A" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000708110" "0" "99" "7" "94055798" "94055798" "subst" "0" "03865" "COL1A2_000505" "g.94055798G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708111" "0" "99" "7" "94055798" "94055798" "subst" "0" "03865" "COL1A2_000505" "g.94055798G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708112" "0" "99" "7" "94055798" "94055798" "subst" "0" "03865" "COL1A2_000505" "g.94055798G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708113" "0" "11" "7" "94055803" "94055803" "subst" "0" "00085" "COL1A2_000320" "g.94055803A>C" "" "{PMID:Baldwin et al., 1989:2914942}" "" "" "" "Unknown" "" "rs392609" "0" "" "" "" "" "likely benign" "" "0000708114" "0" "99" "7" "94055807" "94055807" "subst" "0" "03704" "COL1A2_000441" "g.94055807G>C" "" "{PMID:Pyott et al., 2011:21239989}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708115" "0" "99" "7" "94055816" "94055816" "subst" "0" "00085" "COL1A2_000117" "g.94055816G>A" "" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "Unknown" "" "rs72659322" "0" "" "" "" "" "pathogenic" "" "0000708116" "0" "99" "7" "94055817" "94055817" "subst" "0" "03704" "COL1A2_000118" "g.94055817G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72659323" "0" "" "" "" "" "pathogenic" "" "0000708117" "0" "99" "7" "94055817" "94055817" "subst" "0" "03704" "COL1A2_000118" "g.94055817G>A" "" "{PMID:Bodian et al., 2009:18996919}" "" "" "" "Unknown" "" "rs72659323" "0" "" "" "" "" "pathogenic" "" "0000708118" "0" "99" "7" "94055826" "94055826" "subst" "0" "03853" "COL1A2_000332" "g.94055826G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708119" "0" "99" "7" "94055826" "94055826" "subst" "0" "03879" "COL1A2_000565" "g.94055826G>C" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708120" "3" "99" "7" "94055844" "94055844" "subst" "0" "00085" "COL1A2_000279" "g.94055844T>C" "" "{PMID:Nicholls et al., 2001:11288717}" "" "" "" "Unknown" "" "rs72659324" "0" "" "" "" "" "pathogenic" "" "0000708121" "0" "99" "7" "94056320" "94056320" "subst" "0" "00085" "COL1A2_000119" "g.94056320G>C" "" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "Unknown" "" "rs72659325" "0" "" "" "" "" "pathogenic" "" "0000708122" "0" "99" "7" "94056320" "94056320" "subst" "0" "03879" "COL1A2_000119" "g.94056320G>C" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "rs72659325" "0" "" "" "" "" "pathogenic" "" "0000708123" "0" "95" "7" "94056320" "94056320" "subst" "0" "03894" "COL1A2_000655" "g.94056320G>T" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000708124" "0" "99" "7" "94056329" "94056330" "delins" "0" "03704" "COL1A2_000442" "g.94056329_94056330delinsTT" "" "{PMID:Pyott et al., 2011:21239989}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708125" "0" "99" "7" "94056330" "94056330" "subst" "0" "00085" "COL1A2_000120" "g.94056330G>A" "" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "Unknown" "" "rs72659326" "0" "" "" "" "" "pathogenic" "" "0000708126" "0" "99" "7" "94056338" "94056338" "subst" "0" "00085" "COL1A2_000121" "g.94056338G>A" "" "{PMID:Marini et al., 2007:17078022} (Cohn, King and Krakow, personal communication)" "" "" "" "Unknown" "" "rs72659327" "0" "" "" "" "" "pathogenic" "" "0000708127" "0" "99" "7" "94056338" "94056338" "subst" "0" "00085" "COL1A2_000121" "g.94056338G>A" "" "{PMID:Wu et al., 2014:25289482}" "" "" "" "Unknown" "" "rs72659327" "0" "" "" "" "" "pathogenic" "" "0000708128" "0" "99" "7" "94056348" "94056348" "subst" "0" "01819" "COL1A2_000476" "g.94056348G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708129" "0" "11" "7" "94056349" "94056349" "subst" "0.122429" "00085" "COL1A2_000316" "g.94056349C>T" "" "{PMID:Strobel et al., 1992:1603040} {PMID:Yoneyama et al., 2004:14739420} {PMID:Chan et al., 2008:18272325} {PMID:Bodian et al., 2009:18996919}" "" "" "" "Unknown" "" "rs1800248" "0" "" "" "" "" "likely benign" "" "0000708130" "0" "51" "7" "94056353" "94056353" "subst" "0.000357773" "00085" "COL1A2_000368" "g.94056353G>A" "" "" "" "" "" "Unknown" "" "rs35820023" "0" "" "" "" "" "VUS" "" "0000708131" "0" "99" "7" "94056365" "94056365" "subst" "0" "00085" "COL1A2_000122" "g.94056365G>A" "" "{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)" "" "" "" "Unknown" "" "rs72659328" "0" "" "" "" "" "pathogenic" "" "0000708132" "0" "99" "7" "94056365" "94056365" "subst" "0" "03855" "COL1A2_000122" "g.94056365G>A" "" "" "" "" "" "Unknown" "" "rs72659328" "0" "" "" "" "" "pathogenic" "" "0000708133" "0" "99" "7" "94056378" "94056378" "subst" "0" "00085" "COL1A2_000278" "g.94056378G>C" "" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "Unknown" "" "rs72659329" "0" "" "" "" "" "pathogenic" "" "0000708134" "0" "99" "7" "94056509" "94056509" "subst" "0" "00085" "COL1A2_000123" "g.94056509G>T" "" "{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)" "" "" "" "Unknown" "" "rs72659330" "0" "" "" "" "" "pathogenic" "" "0000708135" "0" "99" "7" "94056511" "94056528" "del" "0" "03704" "COL1A2_000304" "g.94056511_94056528del" "" "{PMID:Bodian et al., 2009:18996919}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708136" "21" "99" "7" "94056537" "94056537" "subst" "0" "03872" "COL1A2_000568" "g.94056537G>T" "" "{PMID:Wang et al., 2015:26307460}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708137" "0" "95" "7" "94056537" "94056537" "subst" "0" "03894" "COL1A2_000568" "g.94056537G>T" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000708138" "11" "99" "7" "94056537" "94056537" "subst" "0" "00085" "COL1A2_000568" "g.94056537G>T" "" "{PMID:Wang et al., 2019:30829463}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708139" "0" "99" "7" "94056537" "94056537" "subst" "0" "00085" "COL1A2_000568" "g.94056537G>T" "" "{PMID:Zhang et al., 2017:27748872}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708140" "0" "97" "7" "94056542" "94056542" "subst" "4.07126E-6" "03865" "COL1A2_000506" "g.94056542A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000708141" "0" "51" "7" "94056559" "94056559" "subst" "0" "00085" "COL1A2_000369" "g.94056559A>G" "" "" "" "" "" "Unknown" "" "rs401700" "0" "" "" "" "" "VUS" "" "0000708142" "0" "95" "7" "94056567" "94056567" "subst" "2.44509E-5" "03894" "COL1A2_000657" "g.94056567C>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000708143" "0" "99" "7" "94056573" "94056573" "subst" "0" "03704" "COL1A2_000124" "g.94056573G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72659332" "0" "" "" "" "" "pathogenic" "" "0000708144" "0" "99" "7" "94056573" "94056573" "subst" "0" "00085" "COL1A2_000124" "g.94056573G>A" "" "{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)" "" "" "" "Unknown" "" "rs72659332" "0" "" "" "" "" "pathogenic" "" "0000708145" "0" "99" "7" "94056579" "94056596" "dup" "0" "03855" "COL1A2_000411" "g.94056579_94056596dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708146" "0" "99" "7" "94056582" "94056582" "subst" "0" "00085" "COL1A2_000125" "g.94056582G>T" "" "{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)" "" "" "" "Unknown" "" "rs72659333" "0" "" "" "" "" "pathogenic" "" "0000708147" "0" "79" "7" "94056582" "94056582" "subst" "0" "00475" "COL1A2_000125" "g.94056582G>T" "" "" "" "" "" "Unknown" "" "rs72659333" "0" "" "" "" "" "pathogenic" "" "0000708148" "0" "99" "7" "94056590" "94056590" "subst" "0" "03855" "COL1A2_000399" "g.94056590G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708149" "0" "99" "7" "94056591" "94056591" "subst" "0" "03704" "COL1A2_000126" "g.94056591G>T" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72659334" "0" "" "" "" "" "pathogenic" "" "0000708150" "0" "99" "7" "94056600" "94056600" "subst" "0" "00085" "COL1A2_000201" "g.94056600G>A" "" "{PMID:Pollitt et al., 2006:16786509}" "" "" "" "Unknown" "" "rs72659335" "0" "" "" "" "" "pathogenic" "" "0000708151" "0" "99" "7" "94056600" "94056600" "subst" "0" "03704" "COL1A2_000201" "g.94056600G>A" "" "{PMID:Pyott et al., 2011:21239989}" "" "" "" "Unknown" "" "rs72659335" "0" "" "" "" "" "pathogenic" "" "0000708152" "0" "99" "7" "94056939" "94056939" "subst" "0" "03704" "COL1A2_000127" "g.94056939G>T" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs72659336" "0" "" "" "" "" "pathogenic" "" "0000708153" "0" "99" "7" "94056940" "94056940" "subst" "0" "00085" "COL1A2_000292" "g.94056940G>A" "" "{PMID:Faqeih et al., 2009:19208385}" "" "" "" "Unknown" "" "rs267606742" "0" "" "" "" "" "pathogenic" "" "0000708154" "0" "99" "7" "94056940" "94056940" "subst" "0" "01819" "COL1A2_000478" "g.94056940G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708155" "0" "99" "7" "94056949" "94056949" "subst" "0" "03855" "COL1A2_000406" "g.94056949G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708156" "0" "99" "7" "94056949" "94056949" "subst" "0" "00085" "COL1A2_000406" "g.94056949G>A" "" "{PMID:Trancozo et al., 2019:31429852}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708157" "0" "99" "7" "94056949" "94056949" "subst" "0" "00085" "COL1A2_000542" "g.94056949G>C" "" "{PMID:Rauch et al., 2014:25086671}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708158" "0" "99" "7" "94056950" "94056958" "del" "0" "00085" "COL1A2_000221" "g.94056950_94056958del" "" "{PMID:Lund et al., 1996:8786065}" "" "" "" "Unknown" "" "rs74315103" "0" "" "" "" "" "pathogenic" "" "0000708159" "0" "99" "7" "94056950" "94056958" "del" "0" "00085" "COL1A2_000221" "g.94056950_94056958del" "" "{PMID:Lee et al., 2006:16705691}" "" "" "" "Unknown" "" "rs74315103" "0" "" "" "" "" "pathogenic" "" "0000708160" "0" "99" "7" "94056958" "94056958" "subst" "0" "00085" "COL1A2_000202" "g.94056958G>C" "" "{PMID:Lu et al., 1995:7749416}" "" "" "" "Unknown" "" "rs72659337" "0" "" "" "" "" "pathogenic" "" "0000708161" "0" "99" "7" "94056965" "94056973" "del" "0" "03704" "COL1A2_000222" "g.94056965_94056973del" "" "{PMID:Pace et al., 2001:11668615}" "" "" "" "Unknown" "" "rs74315134" "0" "" "" "" "" "pathogenic" "" "0000708162" "0" "99" "7" "94056966" "94056966" "subst" "0" "00085" "COL1A2_000128" "g.94056966G>A" "" "{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)" "" "" "" "Unknown" "" "rs72659338" "0" "" "" "" "" "pathogenic" "" "0000708163" "0" "99" "7" "94056966" "94056966" "subst" "0" "00085" "COL1A2_000128" "g.94056966G>A" "" "{PMID:Faqeih et al., 2009:19208385}" "" "" "" "Unknown" "" "rs72659338" "0" "" "" "" "" "pathogenic" "" "0000708164" "0" "99" "7" "94056967" "94056967" "subst" "0" "00085" "COL1A2_000684" "g.94056967G>A" "" "{PMID:Budsamonkol et al.,2019:31193991}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708165" "0" "99" "7" "94056967" "94056967" "subst" "0" "00085" "COL1A2_000756" "g.94056967G>C" "" "{PMID:Trancozo et al., 2019:31429852}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708166" "0" "99" "7" "94056975" "94056975" "subst" "0" "00085" "COL1A2_000237" "g.94056975G>A" "" "{PMID:Hartikka et al., 2004:15241796}" "" "" "" "Unknown" "" "rs67768540" "0" "" "" "" "" "pathogenic" "" "0000708167" "0" "99" "7" "94056975" "94056975" "subst" "0" "00085" "COL1A2_000237" "g.94056975G>A" "" "{PMID:Zhang et al., 2017:27748872}" "" "" "" "Unknown" "" "rs67768540" "0" "" "" "" "" "pathogenic" "" "0000708168" "0" "99" "7" "94056975" "94056975" "subst" "0" "00085" "COL1A2_000132" "g.94056975G>C" "" "{PMID:Roschger et al., 2008:18311573}" "" "" "" "Unknown" "" "rs67768541" "0" "" "" "" "" "pathogenic" "" "0000708169" "0" "99" "7" "94056975" "94056975" "subst" "0" "00085" "COL1A2_000132" "g.94056975G>C" "" "{PMID:Wenstrup et al., 1998:2897363}" "" "" "" "Unknown" "" "rs67768541" "0" "" "" "" "" "pathogenic" "" "0000708170" "0" "99" "7" "94056975" "94056975" "subst" "0" "00085" "COL1A2_000132" "g.94056975G>C" "" "{PMID:Faqeih et al., 2009:19208385}" "" "" "" "Unknown" "" "rs67768541" "0" "" "" "" "" "pathogenic" "" "0000708171" "0" "59" "7" "94056975" "94056975" "subst" "0" "03865" "COL1A2_000132" "g.94056975G>C" "" "" "" "" "" "Unknown" "" "rs67768541" "0" "" "" "" "" "pathogenic" "" "0000708172" "0" "99" "7" "94056975" "94056975" "subst" "0" "03865" "COL1A2_000507" "g.94056975G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708173" "0" "99" "7" "94056975" "94056975" "subst" "0" "03879" "COL1A2_000507" "g.94056975G>T" "" "{PMID:Lindahl et al., 2015:25944380}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708174" "0" "99" "7" "94056976" "94056976" "subst" "4.06369E-6" "03704" "COL1A2_000129" "g.94056976G>A" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs68063265" "0" "" "" "" "" "pathogenic" "" "0000708175" "0" "95" "7" "94056976" "94056976" "subst" "4.06369E-6" "01819" "COL1A2_000129" "g.94056976G>A" "" "{PMID:Essawi 2018:29150909}, {DOI:Essawi 2018:10.1002/mgg3.331}" "" "" "" "Unknown" "" "rs68063265" "0" "" "" "" "" "VUS" "" "0000708176" "0" "95" "7" "94056976" "94056976" "subst" "4.06369E-6" "03894" "COL1A2_000129" "g.94056976G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "rs68063265" "0" "" "" "" "" "VUS" "" "0000708177" "0" "99" "7" "94056976" "94056976" "subst" "0" "00085" "COL1A2_000453" "g.94056976G>C" "" "{PMID:Xu et al., 2011:21530898}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708178" "0" "95" "7" "94056976" "94056976" "subst" "0" "03894" "COL1A2_000453" "g.94056976G>C" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000708179" "0" "99" "7" "94056976" "94056976" "subst" "0" "03704" "COL1A2_000130" "g.94056976G>T" "" "{PMID:Marini et al., 2007:17078022} (Byers, personal communication)" "" "" "" "Unknown" "" "rs68063264" "0" "" "" "" "" "pathogenic" "" "0000708180" "0" "99" "7" "94056976" "94056976" "subst" "0" "00085" "COL1A2_000130" "g.94056976G>T" "" "{PMID:Ho Duy et al., 2016:27519266}" "" "" "" "Unknown" "" "rs68063264" "0" "" "" "" "" "pathogenic" "" "0000708181" "11" "99" "7" "94056976" "94056976" "subst" "0" "00085" "COL1A2_000130" "g.94056976G>T" "" "{PMID:Mrosk et al., 2018:29499418}" "" "" "" "Unknown" "" "rs68063264" "0" "" "" "" "" "pathogenic" "" "0000708182" "0" "93" "7" "94056984" "94056984" "subst" "0.000963242" "03855" "COL1A2_000394" "g.94056984G>A" "" "" "" "" "" "Unknown" "" "rs139851311" "0" "" "" "" "" "VUS" "" "0000708183" "0" "93" "7" "94056984" "94056984" "subst" "0.000963242" "00085" "COL1A2_000394" "g.94056984G>A" "" "{PMID:Zhang et al., 2011:21667357}" "" "" "" "Unknown" "" "rs139851311" "0" "" "" "" "" "VUS" "" "0000708184" "0" "93" "7" "94056984" "94056984" "subst" "0.000963242" "00085" "COL1A2_000394" "g.94056984G>A" "" "{PMID:Stephen et al., 2014:24668929}" "" "" "" "Unknown" "" "rs139851311" "0" "" "" "" "" "VUS" "" "0000708185" "0" "93" "7" "94056984" "94056984" "subst" "0.000963242" "00085" "COL1A2_000394" "g.94056984G>A" "" "{PMID:Rolvien et al., 2018:29946973}" "" "" "" "Unknown" "" "rs139851311" "0" "" "" "" "" "VUS" "" "0000708186" "0" "99" "7" "94057002" "94057002" "subst" "0" "01819" "COL1A2_000477" "g.94057002G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708187" "0" "51" "7" "94057007" "94057007" "subst" "0.000943105" "00085" "COL1A2_000370" "g.94057007C>T" "" "" "" "" "" "Unknown" "" "rs34691365" "0" "" "" "" "" "VUS" "" "0000708188" "11" "53" "7" "94057008" "94057008" "subst" "0.000113817" "03895" "COL1A2_000679" "g.94057008G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000708189" "0" "99" "7" "94057021" "94057021" "subst" "0" "00085" "COL1A2_000452" "g.94057021A>G" "" "{PMID:Xu et al., 2011:21530898}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708190" "0" "99" "7" "94057021" "94057021" "subst" "0" "03872" "COL1A2_000452" "g.94057021A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708191" "0" "99" "7" "94057021" "94057021" "subst" "0" "00085" "COL1A2_000452" "g.94057021A>G" "" "{PMID:Vasanwala et al., 2016:26845496}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708192" "0" "99" "7" "94057026" "94057026" "subst" "0" "00085" "COL1A2_000424" "g.94057026G>A" "" "{PMID:Lindahl et al., 2011:21344539}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708193" "0" "99" "7" "94057026" "94057026" "subst" "0" "01819" "COL1A2_000424" "g.94057026G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708194" "21" "99" "7" "94057029" "94057029" "subst" "0" "00085" "COL1A2_000595" "g.94057029G>A" "" "{PMID:Nishimura et al., 2016:27264419}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708195" "0" "99" "7" "94057030" "94057030" "subst" "0" "00085" "COL1A2_000342" "g.94057030A>C" "" "Li, 2009 ASHG Meeting 2009 Program Number: 2630" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708196" "0" "35" "7" "94057113" "94057113" "subst" "0" "00085" "COL1A2_000131" "g.94057113A>C" "" "{PMID:Oliver et al., 1996:8723681}" "" "" "" "Unknown" "" "rs1800250" "0" "" "" "" "" "VUS" "" "0000708197" "0" "75" "7" "94057135" "94057135" "subst" "4.07196E-6" "03890" "COL1A2_000641" "g.94057135C>T" "" "E. Mornet, personal communication" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000708198" "0" "55" "7" "94057135" "94057135" "subst" "4.07196E-6" "03890" "COL1A2_000641" "g.94057135C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000708199" "0" "95" "7" "94057138" "94057138" "subst" "0" "03869" "COL1A2_000512" "g.94057138G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000708200" "0" "99" "7" "94057158" "94057158" "subst" "0" "03704" "COL1A2_000136" "g.94057158T>C" "" "{PMID:Pace et al., 2008:18375391}" "" "" "" "Unknown" "" "rs72659339" "0" "" "" "" "" "pathogenic" "" "0000708201" "0" "99" "7" "94057162" "94057162" "subst" "2.03802E-5" "03885" "COL1A2_000615" "g.94057162G>A" "" "{PMID:Bardai et al.,2016:27509835}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708202" "0" "99" "7" "94057166" "94057166" "subst" "0" "00085" "COL1A2_000204" "g.94057166C>G" "" "Ponnapakkam et al., 2006 {ASHG06:30600:View abstract}" "" "" "" "Unknown" "" "rs72659340" "0" "" "" "" "" "pathogenic" "" "0000708203" "0" "99" "7" "94057605" "94057605" "subst" "0" "03704" "COL1A2_000135" "g.94057605G>T" "" "{PMID:Pace et al., 2008:18375391}" "" "" "" "Unknown" "" "rs72659341" "0" "" "" "" "" "pathogenic" "" "0000708204" "0" "99" "7" "94057623" "94057623" "subst" "0" "01819" "COL1A2_000524" "g.94057623C>G" "" "{PMID:Symoens et al., 2014:25146735}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708205" "0" "51" "7" "94057624" "94057624" "subst" "0" "00085" "COL1A2_000371" "g.94057624T>C" "" "" "" "" "" "Unknown" "" "rs384444" "0" "" "" "" "" "VUS" "" "0000708206" "0" "51" "7" "94057645" "94057645" "subst" "0" "00085" "COL1A2_000372" "g.94057645T>A" "" "" "" "" "" "Unknown" "" "rs422361" "0" "" "" "" "" "VUS" "" "0000708207" "11" "59" "7" "94057646" "94057646" "dup" "0" "03890" "COL1A2_000640" "g.94057646dup" "" "E. Mornet, personal communication" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708208" "0" "99" "7" "94057661" "94057661" "subst" "0" "03894" "COL1A2_000671" "g.94057661T>C" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708209" "0" "99" "7" "94057662" "94057662" "subst" "0" "00085" "COL1A2_000205" "g.94057662G>A" "" "{PMID:Pollitt et al., 2006:16786509}" "" "" "" "Unknown" "" "rs72659342" "0" "" "" "" "" "pathogenic" "" "0000708210" "0" "51" "7" "94057670" "94057670" "subst" "0" "00085" "COL1A2_000373" "g.94057670T>C" "" "" "" "" "" "Unknown" "" "rs384487" "0" "" "" "" "" "VUS" "" "0000708211" "0" "51" "7" "94057675" "94057675" "subst" "0" "00085" "COL1A2_000374" "g.94057675T>C" "" "" "" "" "" "Unknown" "" "rs384497" "0" "" "" "" "" "VUS" "" "0000708212" "3" "99" "7" "94057679" "94057679" "subst" "0" "03704" "COL1A2_000238" "g.94057679G>T" "" "{PMID:Schwarze et al., 2004:15077201}" "" "" "" "Unknown" "" "rs72659343" "0" "" "" "" "" "pathogenic" "" "0000708213" "0" "93" "7" "94058468" "94058468" "subst" "8.24484E-6" "00085" "COL1A2_000588" "g.94058468A>C" "" "{PMID:Taillandier et al., 2015:26432670}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000708214" "0" "51" "7" "94058514" "94058514" "subst" "0" "00085" "COL1A2_000375" "g.94058514A>T" "" "" "" "" "" "Unknown" "" "rs116275" "0" "" "" "" "" "VUS" "" "0000708215" "0" "75" "7" "94058521" "94058521" "subst" "2.84618E-5" "03865" "COL1A2_000508" "g.94058521G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000708216" "0" "99" "7" "94058561" "94058561" "subst" "8.13968E-6" "00085" "COL1A2_000747" "g.94058561G>A" "" "{PMID:Zhang et al., 2017:27748872}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708217" "0" "99" "7" "94058573" "94058573" "subst" "0" "03861" "COL1A2_000428" "g.94058573A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708218" "0" "99" "7" "94058576" "94058576" "subst" "4.06851E-6" "01819" "COL1A2_000525" "g.94058576A>G" "" "{PMID:Symoens et al., 2014:25146735}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708219" "0" "95" "7" "94058582" "94058582" "subst" "1.22073E-5" "03894" "COL1A2_000661" "g.94058582C>G" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000708220" "0" "51" "7" "94058586" "94058586" "subst" "4.06951E-6" "00085" "COL1A2_000376" "g.94058586G>A" "" "" "" "" "" "Unknown" "" "rs6946518" "0" "" "" "" "" "VUS" "" "0000708221" "0" "99" "7" "94058593" "94058593" "subst" "0" "01819" "COL1A2_000526" "g.94058593A>C" "" "{PMID:Symoens et al., 2014:25146735}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708222" "0" "99" "7" "94058603" "94058603" "subst" "0" "03872" "COL1A2_000580" "g.94058603G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708223" "0" "99" "7" "94058603" "94058603" "subst" "0" "00085" "COL1A2_000593" "g.94058603G>C" "" "{PMID:Lin et al., 2015:26627451}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708224" "0" "95" "7" "94058614" "94058614" "subst" "0" "03894" "COL1A2_000645" "g.94058614A>T" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000708225" "0" "51" "7" "94058637" "94058637" "subst" "0.00087057" "00085" "COL1A2_000377" "g.94058637T>C" "" "" "" "" "" "Unknown" "" "rs34038163" "0" "" "" "" "" "VUS" "" "0000708226" "0" "51" "7" "94058640" "94058640" "subst" "1.62727E-5" "00085" "COL1A2_000378" "g.94058640C>A" "" "" "" "" "" "Unknown" "" "rs663" "0" "" "" "" "" "VUS" "" "0000708227" "0" "35" "7" "94058641" "94058641" "subst" "0.000484066" "03878" "COL1A2_000549" "g.94058641A>C" "" "" "" "" "" "Unknown" "" "rs144797861" "0" "" "" "" "" "VUS" "" "0000708228" "0" "99" "7" "94058647" "94058647" "del" "0" "00085" "COL1A2_000643" "g.94058647del" "" "{PMID:Rolvien et al., 2018:29946973}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708229" "0" "99" "7" "94058685" "94058704" "del" "0" "03870" "COL1A2_000491" "g.94058685_94058704del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708230" "0" "99" "7" "94058726" "94058726" "subst" "5.2873E-5" "00085" "COL1A2_000515" "g.94058726T>C" "" "{PMID:Sule et al., 2013:23443412}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708231" "0" "99" "7" "94058730" "94058730" "dup" "0" "03855" "COL1A2_000412" "g.94058730dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708232" "0" "51" "7" "94058731" "94058731" "subst" "0" "00085" "COL1A2_000379" "g.94058731G>A" "" "" "" "" "" "Unknown" "" "rs6946698" "0" "" "" "" "" "VUS" "" "0000708233" "21" "99" "7" "94058732" "94058732" "subst" "0" "03704" "COL1A2_000133" "g.94058732A>T" "" "{PMID:Pace et al., 2008:18375391}" "" "" "" "Unknown" "" "rs72659344" "0" "" "" "" "" "pathogenic" "" "0000708234" "11" "99" "7" "94058740" "94058740" "dup" "0" "03704" "COL1A2_000134" "g.94058740dup" "" "{PMID:Pace et al., 2008:18375391}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708235" "0" "99" "7" "94059567" "94059570" "del" "0" "03704" "COL1A2_000492" "g.94059567_94059570del" "" "{PMID:McNeeley et al., 2012:22527359}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708236" "0" "99" "7" "94059576" "94059576" "subst" "0" "01819" "COL1A2_000522" "g.94059576G>A" "" "{PMID:Symoens et al., 2014:25146735}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708237" "0" "99" "7" "94059598" "94059598" "subst" "0" "01819" "COL1A2_000527" "g.94059598A>G" "" "{PMID:Symoens et al., 2014:25146735}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708238" "3" "99" "7" "94059605" "94059608" "del" "0" "00085" "COL1A2_000223" "g.94059605_94059608del" "" "{PMID:Pihlajaniemi et al., 1984:6092353}" "" "" "" "Unknown" "" "rs72659345" "0" "" "" "" "" "pathogenic" "" "0000708239" "0" "99" "7" "94059620" "94059620" "subst" "0" "01819" "COL1A2_000528" "g.94059620T>G" "" "{PMID:Symoens et al., 2014:25146735}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708240" "0" "51" "7" "94059638" "94059638" "subst" "0" "00085" "COL1A2_000380" "g.94059638C>T" "" "" "" "" "" "Unknown" "" "rs2229806" "0" "" "" "" "" "VUS" "" "0000708241" "0" "99" "7" "94059644" "94059644" "subst" "0" "01819" "COL1A2_000523" "g.94059644T>A" "" "{PMID:Symoens et al., 2014:25146735}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708242" "0" "33" "7" "94059652" "94059652" "subst" "0.000101619" "03855" "COL1A2_000402" "g.94059652G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "benign" "" "0000708243" "0" "93" "7" "94059652" "94059652" "subst" "0.000101619" "00085" "COL1A2_000402" "g.94059652G>A" "" "{PMID:Wang et al., 2015:25742658} {PMID:Wang et al., 2015:25933069}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000708244" "0" "99" "7" "94059652" "94059652" "subst" "0.000101619" "00085" "COL1A2_000402" "g.94059652G>A" "" "{PMID:Hamatani et al., 2017:29225276}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708245" "10" "99" "7" "94059664" "94059664" "subst" "0" "00085" "COL1A2_000520" "g.94059664C>T" "" "{PMID:Reuter et al., 2013:24140640}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708246" "0" "51" "7" "94059666" "94059666" "subst" "0" "00085" "COL1A2_000381" "g.94059666G>T" "" "" "" "" "" "Unknown" "" "rs418570" "0" "" "" "" "" "VUS" "" "0000708247" "21" "75" "7" "94059682" "94059682" "subst" "4.06603E-6" "03861" "COL1A2_000451" "g.94059682A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000708248" "0" "99" "7" "94059686" "94059686" "subst" "0" "01819" "COL1A2_000529" "g.94059686G>T" "" "{PMID:Symoens et al., 2014:25146735}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708249" "11" "99" "7" "94059686" "94059686" "subst" "0" "00085" "COL1A2_000529" "g.94059686G>T" "" "{PMID:Papamerkouriou et al., 2016:27282461}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708250" "0" "99" "7" "94059699" "94059699" "subst" "2.03548E-5" "00085" "COL1A2_000459" "g.94059699C>A" "" "{PMID:Zhang et al., 2011:21667357}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708251" "0" "99" "7" "94059703" "94059703" "subst" "0" "00085" "COL1A2_000206" "g.94059703T>C" "" "{PMID:Venturi et al., 2006:16879195}" "" "" "" "Unknown" "" "rs72659346" "0" "" "" "" "" "pathogenic" "" "0000712610" "0" "79" "7" "94039117" "94039117" "subst" "0" "00006" "COL1A2_000328" "g.94039117G>A" "" "{PMID:Demir 2021:33470886}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94409805G>A" "" "likely pathogenic" "" "0000712611" "0" "79" "7" "94035599" "94035599" "subst" "0" "00006" "COL1A2_000008" "g.94035599G>A" "" "{PMID:Demir 2021:33470886}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94406287G>A" "" "likely pathogenic" "" "0000712612" "0" "99" "7" "94034205" "94034205" "subst" "0" "00006" "COL1A2_000382" "g.94034205G>A" "" "{PMID:Demir 2021:33470886}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94404893G>A" "" "pathogenic" "" "0000712613" "0" "79" "7" "94039813" "94039813" "subst" "0" "00006" "COL1A2_000873" "g.94039813G>C" "" "{PMID:Demir 2021:33470886}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94410501G>C" "" "likely pathogenic" "" "0000712614" "0" "79" "7" "94038137" "94038137" "subst" "0" "00006" "COL1A2_000251" "g.94038137T>C" "" "{PMID:Demir 2021:33470886}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94408825T>C" "" "likely pathogenic" "" "0000712615" "0" "79" "7" "94039063" "94039063" "subst" "0" "00006" "COL1A2_000872" "g.94039063G>T" "" "{PMID:Demir 2021:33470886}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94409751G>T" "" "likely pathogenic" "" "0000712616" "0" "79" "7" "94045753" "94045753" "subst" "0" "00006" "COL1A2_000070" "g.94045753G>A" "" "{PMID:Demir 2021:33470886}" "" "" "" "De novo" "" "" "0" "" "" "g.94416441G>A" "" "likely pathogenic" "" "0000712617" "0" "99" "7" "94049953" "94049953" "subst" "0" "00006" "COL1A2_000447" "g.94049953G>A" "" "{PMID:Demir 2021:33470886}" "" "" "" "De novo" "" "" "0" "" "" "g.94420641G>A" "" "pathogenic" "" "0000712628" "21" "55" "7" "94057144" "94057144" "subst" "4.07226E-6" "00006" "COL1A2_000874" "g.94057144A>C" "" "{PMID:Demir 2021:33470886}" "" "" "inherited from unaffected mother. \r\n\r\nCurator remarks: concerns a highly conserved protein domain and (predicted by YinOYang software) a new glycosylation site is introduced. Therefore a report as likely pathogenic is plausible." "Germline" "" "" "0" "" "" "g.94427832A>C" "" "VUS" "" "0000712629" "21" "53" "7" "94037526" "94037526" "subst" "5.68523E-5" "00006" "COL1A2_000589" "g.94037526G>A" "" "{PMID:Demir 2021:33470886}" "" "" "Inherited from the unaffected mother" "Germline" "" "" "0" "" "" "g.94408214G>A" "" "VUS" "" "0000721605" "0" "30" "7" "94029204" "94029204" "subst" "0" "02329" "COL1A2_000875" "g.94029204G>A" "" "" "" "COL1A2(NM_000089.4):c.133-304G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721606" "0" "50" "7" "94035000" "94035000" "subst" "4.06171E-6" "02327" "COL1A2_000876" "g.94035000C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721607" "0" "30" "7" "94035620" "94035620" "subst" "0.00369302" "01804" "COL1A2_000705" "g.94035620A>T" "" "" "" "COL1A2(NM_000089.3):c.594+5A>T (p.?), COL1A2(NM_000089.4):c.594+5A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721608" "0" "50" "7" "94040393" "94040393" "subst" "0" "02326" "COL1A2_000877" "g.94040393G>A" "" "" "" "COL1A2(NM_000089.3):c.1277G>A (p.S426N), COL1A2(NM_000089.4):c.1277G>A (p.(Ser426Asn), p.S426N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721609" "0" "30" "7" "94045725" "94045725" "subst" "0" "01943" "COL1A2_000878" "g.94045725C>T" "" "" "" "COL1A2(NM_000089.3):c.1773C>T (p.R591=), COL1A2(NM_000089.4):c.1773C>T (p.R591=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721610" "0" "30" "7" "94049732" "94049732" "subst" "0.000178738" "02326" "COL1A2_000719" "g.94049732C>T" "" "" "" "COL1A2(NM_000089.3):c.2163C>T (p.G721=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721611" "0" "50" "7" "94052290" "94052290" "subst" "0.000211181" "02325" "COL1A2_000855" "g.94052290C>T" "" "" "" "COL1A2(NM_000089.3):c.2425C>T (p.P809S, p.(Pro809Ser)), COL1A2(NM_000089.4):c.2425C>T (p.P809S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721612" "0" "50" "7" "94053724" "94053724" "subst" "4.06078E-5" "01943" "COL1A2_000765" "g.94053724A>C" "" "" "" "COL1A2(NM_000089.3):c.2642A>C (p.E881A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721613" "0" "50" "7" "94055119" "94055119" "subst" "4.12443E-6" "01943" "COL1A2_000879" "g.94055119C>T" "" "" "" "COL1A2(NM_000089.3):c.2893C>T (p.P965S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721614" "0" "30" "7" "94056353" "94056353" "subst" "0.000357773" "02329" "COL1A2_000368" "g.94056353G>A" "" "" "" "COL1A2(NM_000089.3):c.3139G>A (p.V1047M), COL1A2(NM_000089.4):c.3139G>A (p.V1047M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721615" "0" "50" "7" "94057644" "94057644" "subst" "4.06369E-6" "02325" "COL1A2_000880" "g.94057644A>G" "" "" "" "COL1A2(NM_000089.4):c.3566A>G (p.D1189G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729873" "1" "90" "7" "94041407" "94041407" "subst" "0" "00000" "COL1A2_000051" "g.94041407G>A" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_000089.3:c.1378G>A:p.(Gly460Ser)" "" "Germline" "" "" "0" "" "" "g.94412095G>A" "" "pathogenic (dominant)" "" "0000729874" "0" "90" "7" "94055099" "94055099" "subst" "0" "00000" "COL1A2_000662" "g.94055099G>A" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_000089.3:c.2873G>A:p.(Gly958Asp)" "" "De novo" "" "" "0" "" "" "g.94425787G>A" "" "pathogenic (dominant)" "" "0000729875" "0" "90" "7" "94055780" "94055780" "subst" "0" "00000" "COL1A2_000475" "g.94055780G>A" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_000089.3:c.3043G>A:p.(Gly1015Arg)" "" "De novo" "" "" "0" "" "" "g.94426468G>A" "" "pathogenic (dominant)" "" "0000729876" "1" "90" "7" "94038662" "94038662" "subst" "0" "00000" "COL1A2_000140" "g.94038662G>A" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_000089.3:c.821G>A:p.(Gly274Asp)" "" "Germline" "" "" "0" "" "" "g.94409350G>A" "" "pathogenic (dominant)" "" "0000729877" "0" "90" "7" "94041407" "94041407" "subst" "0" "00000" "COL1A2_000051" "g.94041407G>A" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_000089.3:c.1378G>A:p.(Gly460Ser)" "" "De novo" "" "" "0" "" "" "g.94412095G>A" "" "pathogenic (dominant)" "" "0000760691" "0" "70" "7" "94056582" "94056582" "subst" "0" "01396" "COL1A2_000881" "g.94056582G>A" "" "" "" "" "" "Unknown" "" "" "" "" "" "" "" "likely pathogenic" "" "0000760692" "0" "90" "7" "94041407" "94041407" "subst" "0" "01396" "COL1A2_000051" "g.94041407G>A" "" "" "" "" "" "Unknown" "" "" "" "" "" "" "" "pathogenic" "" "0000760693" "0" "90" "7" "94045753" "94045753" "subst" "0" "01396" "COL1A2_000070" "g.94045753G>A" "" "" "" "" "" "Unknown" "" "" "" "" "" "" "" "pathogenic" "" "0000760991" "0" "90" "7" "94049854" "94049854" "subst" "0" "00006" "COL1A2_000883" "g.94049854G>T" "" "{PMID:Tang 2021:33777089}" "" "" "ACMG PS2, PS1, PM1, PM2" "De novo" "" "" "0" "" "" "g.94420542G>T" "" "pathogenic (dominant)" "ACMG" "0000760992" "21" "50" "7" "94044585" "94044588" "del" "0" "00006" "COL1A2_000882" "g.94044585_94044588del" "" "{PMID:Tang 2021:33777089}" "" "" "ACMG PM2, PP1, PP3" "Germline" "" "" "0" "" "" "g.94415273_94415276del" "" "VUS" "ACMG" "0000760996" "0" "90" "7" "94039108" "94039108" "subst" "0" "00006" "COL1A2_000409" "g.94039108G>A" "" "{PMID:Tang 2021:33777089}" "" "" "ACMG PS2, PM1, PM2, PM5" "De novo" "" "" "0" "" "" "g.94409796G>A" "" "pathogenic (dominant)" "ACMG" "0000763548" "0" "90" "7" "94047109" "94047109" "subst" "0" "04046" "COL1A2_000074" "g.94047109G>T" "" "" "" "" "" "Germline/De novo (untested)" "" "rs72658150" "0" "" "" "g.94417797G>T" "RCV000490755.1" "pathogenic" "" "0000803295" "0" "30" "7" "94033892" "94033892" "subst" "0.000597003" "02329" "COL1A2_000559" "g.94033892C>T" "" "" "" "COL1A2(NM_000089.3):c.304C>T (p.P102S), COL1A2(NM_000089.4):c.304C>T (p.P102S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803296" "0" "30" "7" "94034162" "94034162" "subst" "0" "01943" "COL1A2_000884" "g.94034162T>A" "" "" "" "COL1A2(NM_000089.3):c.390T>A (p.G130=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803297" "0" "90" "7" "94038733" "94038733" "subst" "0" "02325" "COL1A2_000885" "g.94038733G>A" "" "" "" "COL1A2(NM_000089.4):c.891+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000803298" "0" "30" "7" "94039091" "94039091" "subst" "4.07027E-6" "01943" "COL1A2_000886" "g.94039091C>T" "" "" "" "COL1A2(NM_000089.3):c.993C>T (p.G331=), COL1A2(NM_000089.4):c.993C>T (p.(Gly331=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803299" "0" "10" "7" "94040361" "94040361" "del" "0" "02326" "COL1A2_000843" "g.94040361del" "" "" "" "COL1A2(NM_000089.3):c.1252-7delT, COL1A2(NM_000089.3):c.1252-7delT (p.?), COL1A2(NM_000089.4):c.1252-7delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000803300" "0" "10" "7" "94040361" "94040361" "del" "0" "02329" "COL1A2_000843" "g.94040361del" "" "" "" "COL1A2(NM_000089.3):c.1252-7delT, COL1A2(NM_000089.3):c.1252-7delT (p.?), COL1A2(NM_000089.4):c.1252-7delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000803301" "0" "10" "7" "94040361" "94040361" "dup" "0" "02329" "COL1A2_000887" "g.94040361dup" "" "" "" "COL1A2(NM_000089.4):c.1252-7dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000803302" "0" "30" "7" "94044588" "94044588" "subst" "0" "01943" "COL1A2_000630" "g.94044588T>C" "" "" "" "COL1A2(NM_000089.3):c.1764+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803303" "0" "30" "7" "94045719" "94045719" "subst" "0" "02326" "COL1A2_000888" "g.94045719G>A" "" "" "" "COL1A2(NM_000089.3):c.1767G>A (p.G589=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803304" "0" "50" "7" "94049737" "94049737" "subst" "4.4682E-5" "02325" "COL1A2_000720" "g.94049737A>T" "" "" "" "COL1A2(NM_000089.4):c.2168A>T (p.(Asn723Ile), p.N723I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803305" "0" "70" "7" "94049757" "94049757" "subst" "0" "01804" "COL1A2_000889" "g.94049757G>C" "" "" "" "COL1A2(NM_000089.3):c.2187+1G>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000803306" "0" "30" "7" "94052290" "94052290" "subst" "0.000211181" "01804" "COL1A2_000855" "g.94052290C>T" "" "" "" "COL1A2(NM_000089.3):c.2425C>T (p.P809S, p.(Pro809Ser)), COL1A2(NM_000089.4):c.2425C>T (p.P809S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803307" "0" "70" "7" "94053755" "94053755" "subst" "0" "02327" "COL1A2_000890" "g.94053755G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000803308" "0" "90" "7" "94053756" "94053756" "subst" "0" "02325" "COL1A2_000891" "g.94053756G>T" "" "" "" "COL1A2(NM_000089.4):c.2673+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000803309" "0" "70" "7" "94054941" "94054941" "subst" "0" "01943" "COL1A2_000450" "g.94054941G>A" "" "" "" "COL1A2(NM_000089.3):c.2801G>A (p.G934D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000803310" "0" "50" "7" "94058594" "94058594" "subst" "0" "02326" "COL1A2_000892" "g.94058594C>T" "" "" "" "COL1A2(NM_000089.3):c.3806C>T (p.T1269I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803311" "0" "50" "7" "94058667" "94058667" "subst" "8.13471E-6" "01943" "COL1A2_000893" "g.94058667G>T" "" "" "" "COL1A2(NM_000089.3):c.3879G>T (p.Q1293H), COL1A2(NM_000089.4):c.3879G>T (p.Q1293H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000830810" "0" "90" "7" "94038679" "94038679" "subst" "8.12137E-6" "00006" "COL1A2_000017" "g.94038679G>A" "" "{PMID:Rauch 2014:25086671}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94409367G>A" "" "pathogenic" "" "0000830818" "0" "90" "7" "94038689" "94038689" "subst" "0" "00006" "COL1A2_000541" "g.94038689G>T" "" "{PMID:Rauch 2014:25086671}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94409377G>T" "" "pathogenic" "" "0000830819" "0" "90" "7" "94056949" "94056949" "subst" "0" "00006" "COL1A2_000542" "g.94056949G>C" "" "{PMID:Rauch 2014:25086671}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94427637G>C" "" "pathogenic" "" "0000830821" "0" "90" "7" "94044574" "94044574" "subst" "0" "00006" "COL1A2_000543" "g.94044574G>A" "" "{PMID:Rauch 2014:25086671}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94415262G>A" "" "pathogenic" "" "0000830823" "0" "90" "7" "94039133" "94039135" "del" "0" "00006" "COL1A2_000383" "g.94039133_94039135del" "" "{PMID:Rauch 2014:25086671}" "" "1031_1033del (Val345del)" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94409821_94409823del" "" "pathogenic" "" "0000830827" "0" "90" "7" "94039732" "94039732" "subst" "0" "00006" "COL1A2_000545" "g.94039732G>T" "" "{PMID:Rauch 2014:25086671}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94410420G>T" "" "pathogenic" "" "0000830828" "0" "90" "7" "94049863" "94049863" "subst" "0" "00006" "COL1A2_000546" "g.94049863G>T" "" "{PMID:Rauch 2014:25086671}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94420551G>T" "" "pathogenic" "" "0000830830" "0" "90" "7" "94045753" "94045753" "subst" "0" "00006" "COL1A2_000070" "g.94045753G>A" "" "{PMID:Rauch 2014:25086671}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94416441G>A" "" "pathogenic" "" "0000830832" "0" "90" "7" "94037646" "94037646" "subst" "0" "00006" "COL1A2_000547" "g.94037646A>G" "" "{PMID:Rauch 2014:25086671}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94408334A>G" "" "pathogenic" "" "0000833447" "0" "50" "7" "94039032" "94039032" "subst" "0.775211" "00006" "COL1A2_000417" "g.94039032C>T" "" "{PMID:Zhytnik 2017:28810924}" "" "937-3C>CT" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000833449" "0" "90" "7" "94049569" "94049586" "dup" "0" "00006" "COL1A2_000894" "g.94049569_94049586dup" "" "{PMID:Zhytnik 2019:31447884}" "" "2093_2110dup" "" "Germline" "" "" "0" "" "" "g.94420257_94420274dup" "" "pathogenic (dominant)" "" "0000833451" "0" "55" "7" "94053724" "94053724" "subst" "4.06078E-5" "03897" "COL1A2_000765" "g.94053724A>C" "" "{PMID:Zhytnik 2019:31447884}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000833452" "0" "55" "7" "94053724" "94053724" "subst" "4.06078E-5" "03897" "COL1A2_000765" "g.94053724A>C" "" "{PMID:Zhytnik 2019:31447884}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000851720" "0" "30" "7" "94027085" "94027085" "subst" "2.60017E-5" "02326" "COL1A2_000819" "g.94027085T>C" "" "" "" "COL1A2(NM_000089.3):c.81+15T>C, COL1A2(NM_000089.4):c.81+15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851721" "0" "30" "7" "94040445" "94040445" "subst" "5.27224E-5" "01943" "COL1A2_000897" "g.94040445G>A" "" "" "" "COL1A2(NM_000089.3):c.1329G>A (p.E443=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851722" "0" "50" "7" "94049588" "94049588" "subst" "0.000678851" "01804" "COL1A2_000178" "g.94049588G>A" "" "" "" "COL1A2(NM_000089.3):c.2123G>A (p.R708Q, p.(Arg708Gln)), COL1A2(NM_000089.4):c.2123G>A (p.R708Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851723" "0" "50" "7" "94055323" "94055323" "subst" "0.000129998" "01804" "COL1A2_000863" "g.94055323C>T" "" "" "" "COL1A2(NM_000089.3):c.2957C>T (p.(Pro986Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851724" "0" "50" "7" "94057008" "94057008" "subst" "0.000113817" "01943" "COL1A2_000679" "g.94057008G>A" "" "" "" "COL1A2(NM_000089.3):c.3337G>A (p.D1113N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851725" "0" "10" "7" "94058637" "94058637" "subst" "0.00087057" "02329" "COL1A2_000377" "g.94058637T>C" "" "" "" "COL1A2(NM_000089.4):c.3849T>C (p.T1283=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860967" "0" "50" "7" "94037655" "94037655" "subst" "3.24889E-5" "02329" "COL1A2_000895" "g.94037655G>A" "" "" "" "COL1A2(NM_000089.3):c.701G>A (p.R234H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860968" "0" "30" "7" "94039607" "94039607" "subst" "8.1248E-6" "01943" "COL1A2_000840" "g.94039607C>G" "" "" "" "COL1A2(NM_000089.3):c.1089C>G (p.P363=), COL1A2(NM_000089.4):c.1089C>G (p.P363=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860969" "0" "30" "7" "94040442" "94040442" "subst" "0" "01943" "COL1A2_000896" "g.94040442G>A" "" "" "" "COL1A2(NM_000089.3):c.1326G>A (p.G442=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860970" "0" "30" "7" "94045722" "94045722" "subst" "0.000106104" "02329" "COL1A2_000898" "g.94045722A>G" "" "" "" "COL1A2(NM_000089.4):c.1770A>G (p.E590=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860971" "0" "30" "7" "94045725" "94045725" "subst" "0" "02329" "COL1A2_000878" "g.94045725C>T" "" "" "" "COL1A2(NM_000089.3):c.1773C>T (p.R591=), COL1A2(NM_000089.4):c.1773C>T (p.R591=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860972" "0" "50" "7" "94049850" "94049850" "subst" "0" "01943" "COL1A2_000899" "g.94049850C>A" "" "" "" "COL1A2(NM_000089.3):c.2188-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860973" "0" "30" "7" "94050338" "94050338" "subst" "0.000101543" "01943" "COL1A2_000900" "g.94050338C>T" "" "" "" "COL1A2(NM_000089.3):c.2313C>T (p.P771=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860974" "0" "50" "7" "94057691" "94057691" "subst" "0.000199174" "01943" "COL1A2_000901" "g.94057691C>T" "" "" "" "COL1A2(NM_000089.3):c.3613C>T (p.R1205W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000868736" "0" "90" "7" "94042404" "94042404" "subst" "0" "03779" "COL1A2_000902" "g.94042404G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs1554396679" "0" "" "" "" "" "pathogenic" "" "0000876712" "11" "90" "7" "94037658" "94037658" "subst" "0" "00085" "COL1A2_000903" "g.94037658G>A" "" "{PMID:Takagi et al., 2015:25858481}" "" "[623G>A;704G>A]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000876713" "21" "30" "7" "94047589" "94047589" "subst" "0" "03704" "COL1A2_000904" "g.94047589G>C" "" "{PMID:Raff et al., 2000:10982177}" "" "[1972-222G>C;1972-220T>A;540+37_1972-220dup]" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000876714" "21" "30" "7" "94047591" "94047591" "subst" "0" "03704" "COL1A2_000905" "g.94047591T>A" "" "{PMID:Raff et al., 2000:10982177}" "" "[1972-222G>C;1972-220T>A;540+37_1972-220dup]" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000877435" "0" "90" "7" "94034167" "94034167" "subst" "5.28168E-5" "04298" "COL1A2_000907" "g.94034167G>A" "" "{PMID:Ohata 2019:31363794}" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic (dominant)" "" "0000877436" "0" "93" "7" "94042006" "94042008" "del" "0" "04298" "COL1A2_000908" "g.94042006_94042008del" "" "{PMID:Ohata 2019:31363794}" "" "c.1503+12_14delCAC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94412694_94412696del" "" "pathogenic (dominant)" "" "0000877437" "0" "90" "7" "94052292" "94052300" "dup" "0" "04298" "COL1A2_000217" "g.94052292_94052300dup" "" "{PMID:Ohata 2019:31363794}" "" "2419_2427dup" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94422980_94422988dup" "" "pathogenic (dominant)" "" "0000877438" "0" "90" "7" "94055326" "94055334" "dup" "0" "04298" "COL1A2_000219" "g.94055326_94055334dup" "" "{PMID:Ohata 2019:31363794}" "" "2952_2960dup" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94426014_94426022dup" "" "pathogenic (dominant)" "" "0000877439" "0" "90" "7" "94056537" "94056537" "subst" "0" "04298" "COL1A2_000568" "g.94056537G>T" "" "{PMID:Wang 2019:30829463}" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic (dominant)" "" "0000877510" "0" "99" "7" "94050366" "94050366" "subst" "0" "03528" "COL1A2_000906" "g.94050366G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000878052" "0" "90" "7" "94030934" "94030934" "subst" "0" "02544" "COL1A2_000460" "g.94030934T>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.94401622T>G" "" "pathogenic" "" "0000878057" "10" "70" "7" "94029572" "94029572" "subst" "0" "02544" "COL1A2_000822" "g.94029572G>A" "" "{PMID:Morlino 2020:31794058}" "" "" "" "Germline" "" "" "0" "" "" "g.94400260G>A" "" "likely pathogenic" "" "0000878058" "3" "90" "7" "94057679" "94057679" "subst" "0" "02544" "COL1A2_000238" "g.94057679G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94428367G>T" "" "pathogenic" "" "0000878070" "0" "50" "7" "94040393" "94040393" "subst" "4.32055E-6" "02544" "COL1A2_000917" "g.94040393G>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94411081G>T" "" "VUS" "" "0000878079" "10" "90" "7" "94035598" "94035598" "subst" "4.06187E-6" "02544" "COL1A2_000007" "g.94035598G>A" "" "{PMID:Morlino 2020:31794058}" "" "" "" "Germline" "" "" "0" "" "" "g.94406286G>A" "" "pathogenic" "" "0000878085" "0" "50" "7" "94035037" "94035037" "subst" "0" "02544" "COL1A2_000915" "g.94035037G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94405725G>A" "" "VUS" "" "0000878094" "20" "70" "7" "94034178" "94034178" "subst" "0" "02544" "COL1A2_000912" "g.94034178G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94404866G>A" "" "likely pathogenic" "" "0000878097" "20" "50" "7" "94041930" "94041930" "subst" "8.14326E-6" "02544" "COL1A2_000919" "g.94041930T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94412618T>C" "" "VUS" "" "0000878099" "20" "70" "7" "94054510" "94054510" "subst" "4.06349E-5" "02544" "COL1A2_000578" "g.94054510G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94425198G>A" "" "likely pathogenic" "" "0000878119" "0" "70" "7" "94049916" "94049916" "subst" "4.15224E-6" "02544" "COL1A2_000181" "g.94049916G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94420604G>A" "" "likely pathogenic" "" "0000878121" "0" "50" "7" "94051217" "94051217" "subst" "4.06105E-6" "02544" "COL1A2_000920" "g.94051217A>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94421905A>C" "" "VUS" "" "0000878122" "20" "50" "7" "94039766" "94039766" "subst" "0" "02544" "COL1A2_000916" "g.94039766G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94410454G>C" "" "VUS" "" "0000878123" "10" "90" "7" "94039813" "94039813" "subst" "0" "02544" "COL1A2_000041" "g.94039813G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94410501G>A" "" "pathogenic" "" "0000878126" "10" "50" "7" "94057152" "94057152" "subst" "2.03706E-5" "02544" "COL1A2_000922" "g.94057152C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94427840C>T" "" "VUS" "" "0000878139" "20" "70" "7" "94038894" "94038894" "subst" "0" "02544" "COL1A2_000321" "g.94038894G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94409582G>A" "" "likely pathogenic" "" "0000878142" "0" "70" "7" "94034547" "94034547" "subst" "0" "02544" "COL1A2_000914" "g.94034547G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.94405235G>A" "" "likely pathogenic" "" "0000878155" "10" "50" "7" "94055326" "94055326" "subst" "0" "02544" "COL1A2_000921" "g.94055326T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94426014T>C" "" "VUS" "" "0000878158" "0" "50" "7" "94034009" "94034009" "subst" "1.62536E-5" "02544" "COL1A2_000911" "g.94034009C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94404697C>T" "" "VUS" "" "0000878160" "0" "70" "7" "94030933" "94030937" "del" "0" "02544" "COL1A2_000910" "g.94030933_94030937del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.94401621_94401625del" "" "likely pathogenic" "" "0000878168" "10" "90" "7" "94038715" "94038715" "subst" "0" "02544" "COL1A2_000562" "g.94038715G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94409403G>A" "" "pathogenic" "" "0000878171" "0" "90" "7" "94035599" "94035599" "subst" "0" "02544" "COL1A2_000008" "g.94035599G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94406287G>A" "" "pathogenic" "" "0000878172" "10" "70" "7" "94034197" "94034197" "subst" "0" "02544" "COL1A2_000913" "g.94034197G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94404885G>A" "" "likely pathogenic" "" "0000878178" "0" "70" "7" "94055108" "94055108" "subst" "0" "02544" "COL1A2_000398" "g.94055108G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94425796G>A" "" "likely pathogenic" "" "0000878185" "0" "70" "7" "94048829" "94048829" "subst" "0" "02544" "COL1A2_000762" "g.94048829G>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94419517G>T" "" "likely pathogenic" "" "0000878186" "20" "70" "7" "94029527" "94029532" "dup" "0" "02544" "COL1A2_000909" "g.94029527_94029532dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94400215_94400220dup" "" "likely pathogenic" "" "0000878195" "0" "50" "7" "94058685" "94058704" "del" "0" "02544" "COL1A2_000491" "g.94058685_94058704del" "" "" "" "3897_3916delACTTGTTGCTGAGGGCAACA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94429373_94429392del" "" "VUS" "" "0000878198" "0" "50" "7" "94041413" "94041413" "subst" "0" "02544" "COL1A2_000918" "g.94041413G>A" "" "0" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94412101G>A" "" "VUS" "" "0000878208" "10" "50" "7" "94059641" "94059641" "subst" "0" "02544" "COL1A2_000923" "g.94059641C>T" "" "0" "" "" "" "Germline" "" "" "0" "" "" "g.94430329C>T" "" "VUS" "" "0000888034" "0" "10" "7" "94028427" "94028427" "subst" "0.192742" "02325" "COL1A2_000924" "g.94028427G>A" "" "" "" "COL1A2(NM_000089.4):c.132+31G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888035" "0" "10" "7" "94030868" "94030868" "dup" "0" "02326" "COL1A2_000824" "g.94030868dup" "" "" "" "COL1A2(NM_000089.3):c.226-11dupT, COL1A2(NM_000089.4):c.226-11dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888036" "0" "90" "7" "94034512" "94034512" "subst" "0" "02329" "COL1A2_000925" "g.94034512G>T" "" "" "" "COL1A2(NM_000089.4):c.434G>T (p.G145V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888037" "0" "90" "7" "94039044" "94039044" "subst" "0" "02329" "COL1A2_000418" "g.94039044G>A" "" "" "" "COL1A2(NM_000089.4):c.946G>A (p.G316S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888038" "0" "50" "7" "94039047" "94039047" "subst" "3.65553E-5" "02325" "COL1A2_000926" "g.94039047G>A" "" "" "" "COL1A2(NM_000089.4):c.949G>A (p.V317I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888039" "0" "10" "7" "94040287" "94040287" "subst" "0.185148" "02325" "COL1A2_000927" "g.94040287G>A" "" "" "" "COL1A2(NM_000089.4):c.1251+33G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888040" "0" "30" "7" "94040360" "94040361" "del" "0" "02326" "COL1A2_000928" "g.94040360_94040361del" "" "" "" "COL1A2(NM_000089.3):c.1252-8_1252-7delTT, COL1A2(NM_000089.4):c.1252-8_1252-7delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888041" "0" "30" "7" "94040477" "94040477" "subst" "0.000788387" "02325" "COL1A2_000844" "g.94040477A>T" "" "" "" "COL1A2(NM_000089.4):c.1350+11A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888042" "0" "50" "7" "94041431" "94041431" "subst" "2.0509E-5" "02326" "COL1A2_000929" "g.94041431G>A" "" "" "" "COL1A2(NM_000089.3):c.1402G>A (p.(Val468Ile), p.V468I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888043" "0" "90" "7" "94042405" "94042405" "subst" "0" "02327" "COL1A2_000930" "g.94042405G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888044" "0" "10" "7" "94043493" "94043493" "subst" "0.182796" "02325" "COL1A2_000931" "g.94043493G>A" "" "" "" "COL1A2(NM_000089.4):c.1666-41G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888045" "0" "30" "7" "94048769" "94048769" "subst" "2.46855E-5" "02325" "COL1A2_000932" "g.94048769C>T" "" "" "" "COL1A2(NM_000089.4):c.2026-41C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888046" "0" "30" "7" "94051201" "94051201" "subst" "2.03065E-5" "02329" "COL1A2_000933" "g.94051201T>C" "" "" "" "COL1A2(NM_000089.4):c.2350-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888047" "0" "50" "7" "94051267" "94051267" "subst" "4.06388E-6" "02326" "COL1A2_000934" "g.94051267A>G" "" "" "" "COL1A2(NM_000089.3):c.2403+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888048" "0" "90" "7" "94052278" "94052278" "subst" "0" "02329" "COL1A2_000472" "g.94052278G>C" "" "" "" "COL1A2(NM_000089.4):c.2413G>C (p.G805R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888049" "0" "50" "7" "94052321" "94052321" "subst" "8.12328E-5" "02326" "COL1A2_000560" "g.94052321G>A" "" "" "" "COL1A2(NM_000089.3):c.2456G>A (p.R819H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888050" "0" "30" "7" "94054509" "94054509" "subst" "5.68948E-5" "02326" "COL1A2_000862" "g.94054509C>T" "" "" "" "COL1A2(NM_000089.3):c.2754C>T (p.N918=), COL1A2(NM_000089.4):c.2754C>T (p.N918=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888051" "0" "30" "7" "94056353" "94056353" "subst" "0.000357773" "02326" "COL1A2_000368" "g.94056353G>A" "" "" "" "COL1A2(NM_000089.3):c.3139G>A (p.V1047M), COL1A2(NM_000089.4):c.3139G>A (p.V1047M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888052" "0" "30" "7" "94058682" "94058682" "subst" "0" "02329" "COL1A2_000935" "g.94058682T>C" "" "" "" "COL1A2(NM_000089.4):c.3894T>C (p.V1298=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000897359" "0" "90" "7" "94039590" "94039590" "subst" "0" "03779" "COL1A2_000036" "g.94039590G>A" "" "" "" "" "" "Unknown" "" "rs66619856" "0" "" "" "" "" "pathogenic" "" "0000902747" "21" "90" "7" "94033887" "94033887" "subst" "0" "02284" "COL1A2_000936" "g.94033887G>A" "" "" "" "" "patient has affected mother carrying the same variant" "Germline" "yes" "" "0" "" "" "g.94404575G>A" "" "pathogenic (dominant)" "ACMG" "0000908686" "0" "70" "7" "94035598" "94035598" "subst" "0" "03820" "COL1A2_000322" "g.94035598G>C" "" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "" "" "Germline" "" "" "0" "" "" "g.94406286G>C" "" "likely pathogenic (dominant)" "ACMG" "0000908687" "0" "70" "7" "94038683" "94038700" "dup" "0" "03820" "COL1A2_000937" "g.94038683_94038700dup" "" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "" "" "Germline" "" "" "0" "" "" "g.94409371_94409388dup" "" "likely pathogenic (dominant)" "ACMG" "0000908688" "0" "90" "7" "94039080" "94039080" "subst" "0" "03820" "COL1A2_000025" "g.94039080G>A" "" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "" "" "Germline" "" "" "0" "" "" "g.94409768G>A" "" "pathogenic (dominant)" "ACMG" "0000908689" "0" "90" "7" "94039080" "94039080" "subst" "0" "03820" "COL1A2_000025" "g.94039080G>A" "" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "" "" "Germline" "" "" "0" "" "" "g.94409768G>A" "" "pathogenic (dominant)" "ACMG" "0000908690" "0" "90" "7" "94039107" "94039107" "subst" "0" "03820" "COL1A2_000029" "g.94039107G>A" "" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "" "" "Germline" "" "" "0" "" "" "g.94409795G>A" "" "pathogenic (dominant)" "ACMG" "0000908691" "0" "90" "7" "94039590" "94039590" "subst" "0" "03820" "COL1A2_000036" "g.94039590G>A" "" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "" "" "Germline" "" "" "0" "" "" "g.94410278G>A" "" "pathogenic (dominant)" "ACMG" "0000908692" "0" "90" "7" "94039590" "94039590" "subst" "0" "03820" "COL1A2_000036" "g.94039590G>A" "" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "" "" "Germline" "" "" "0" "" "" "g.94410278G>A" "" "pathogenic (dominant)" "ACMG" "0000908693" "0" "90" "7" "94039795" "94039795" "subst" "0" "03820" "COL1A2_000456" "g.94039795G>A" "" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "" "" "Germline" "" "" "0" "" "" "g.94410483G>A" "" "pathogenic (dominant)" "ACMG" "0000908694" "0" "70" "7" "94041924" "94041924" "subst" "0" "03820" "COL1A2_000052" "g.94041924G>A" "" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "" "" "Germline" "" "" "0" "" "" "g.94412612G>A" "" "likely pathogenic (dominant)" "ACMG" "0000908695" "0" "70" "7" "94042440" "94042440" "subst" "0" "03820" "COL1A2_000534" "g.94042440G>A" "" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "" "" "Germline" "" "" "0" "" "" "g.94413128G>A" "" "likely pathogenic (dominant)" "ACMG" "0000908696" "0" "70" "7" "94043206" "94043206" "subst" "0" "03820" "COL1A2_000761" "g.94043206G>A" "" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "" "" "Germline" "" "" "0" "" "" "g.94413894G>A" "" "likely pathogenic (dominant)" "ACMG" "0000908697" "0" "70" "7" "94043206" "94043206" "subst" "0" "03820" "COL1A2_000761" "g.94043206G>A" "" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "" "" "Germline" "" "" "0" "" "" "g.94413894G>A" "" "likely pathogenic (dominant)" "ACMG" "0000908698" "0" "70" "7" "94043251" "94043251" "subst" "0" "03820" "COL1A2_000938" "g.94043251G>T" "" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "" "" "Germline" "" "" "0" "" "" "g.94413939G>T" "" "likely pathogenic (dominant)" "ACMG" "0000908699" "0" "70" "7" "94047849" "94047852" "delins" "0" "03820" "COL1A2_000939" "g.94047849_94047852delinsG" "" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "2010_2013delCAGAinsG" "" "Germline" "" "" "0" "" "" "g.94418537_94418540delinsG" "" "likely pathogenic (dominant)" "ACMG" "0000908700" "0" "90" "7" "94050339" "94050339" "subst" "0" "03820" "COL1A2_000940" "g.94050339G>C" "" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "" "" "Germline" "" "" "0" "" "" "g.94421027G>C" "" "pathogenic (dominant)" "ACMG" "0000908701" "0" "70" "7" "94050330" "94050330" "subst" "0" "03820" "COL1A2_000500" "g.94050330G>C" "" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "" "" "Germline" "" "" "0" "" "" "g.94421018G>C" "" "likely pathogenic (dominant)" "ACMG" "0000908702" "0" "90" "7" "94054448" "94054448" "subst" "0" "03820" "COL1A2_000941" "g.94054448G>T" "" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "" "" "Germline" "" "" "0" "" "" "g.94425136G>T" "" "pathogenic (dominant)" "ACMG" "0000908703" "0" "70" "7" "94054493" "94054493" "subst" "0" "03820" "COL1A2_000942" "g.94054493G>A" "" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "" "" "Germline" "" "" "0" "" "" "g.94425181G>A" "" "likely pathogenic (dominant)" "ACMG" "0000908704" "0" "90" "7" "94054976" "94054976" "subst" "0" "03820" "COL1A2_000276" "g.94054976G>A" "" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "" "" "Germline" "" "" "0" "" "" "g.94425664G>A" "" "pathogenic (dominant)" "ACMG" "0000908705" "0" "90" "7" "94054976" "94054976" "subst" "0" "03820" "COL1A2_000276" "g.94054976G>A" "" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "" "" "Germline" "" "" "0" "" "" "g.94425664G>A" "" "pathogenic (dominant)" "ACMG" "0000908706" "0" "70" "7" "94055080" "94055080" "subst" "0" "03820" "COL1A2_000943" "g.94055080G>A" "" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "" "" "Germline" "" "" "0" "" "" "g.94425768G>A" "" "likely pathogenic (dominant)" "ACMG" "0000908707" "0" "70" "7" "94055108" "94055108" "subst" "0" "03820" "COL1A2_000398" "g.94055108G>A" "" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "" "" "Germline" "" "" "0" "" "" "g.94425796G>A" "" "likely pathogenic (dominant)" "ACMG" "0000908708" "0" "90" "7" "94055771" "94055771" "subst" "0" "03820" "COL1A2_000115" "g.94055771G>A" "" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "" "" "Germline" "" "" "0" "" "" "g.94426459G>A" "" "pathogenic (dominant)" "ACMG" "0000908709" "0" "90" "7" "94055771" "94055771" "subst" "0" "03820" "COL1A2_000115" "g.94055771G>A" "" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "" "" "Germline" "" "" "0" "" "" "g.94426459G>A" "" "pathogenic (dominant)" "ACMG" "0000908710" "0" "70" "7" "94056356" "94056356" "subst" "4.06603E-6" "03820" "COL1A2_000944" "g.94056356G>A" "" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "" "" "Germline" "" "" "0" "" "" "g.94427044G>A" "" "likely pathogenic (dominant)" "ACMG" "0000908711" "0" "50" "7" "94056373" "94056373" "subst" "0" "03820" "COL1A2_000864" "g.94056373G>A" "" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "" "" "Germline" "" "" "0" "" "" "g.94427061G>A" "" "VUS" "ACMG" "0000908712" "0" "90" "7" "94056320" "94056320" "subst" "0" "03820" "COL1A2_000119" "g.94056320G>C" "" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "" "" "Germline" "" "" "0" "" "" "g.94427008G>C" "" "pathogenic (dominant)" "ACMG" "0000908713" "0" "70" "7" "94056940" "94056940" "subst" "0" "03820" "COL1A2_000292" "g.94056940G>A" "" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "" "" "Germline" "" "" "0" "" "" "g.94427628G>A" "" "likely pathogenic (dominant)" "ACMG" "0000908714" "0" "70" "7" "94056940" "94056940" "subst" "0" "03820" "COL1A2_000292" "g.94056940G>A" "" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "" "" "Germline" "" "" "0" "" "" "g.94427628G>A" "" "likely pathogenic (dominant)" "ACMG" "0000908715" "0" "70" "7" "94056940" "94056940" "subst" "0" "03820" "COL1A2_000292" "g.94056940G>A" "" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "" "" "Germline" "" "" "0" "" "" "g.94427628G>A" "" "likely pathogenic (dominant)" "ACMG" "0000908716" "0" "70" "7" "94057662" "94057662" "subst" "0" "03820" "COL1A2_000205" "g.94057662G>A" "" "{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}" "" "" "" "Germline" "" "" "0" "" "" "g.94428350G>A" "" "likely pathogenic (dominant)" "ACMG" "0000908958" "0" "90" "7" "94056967" "94056967" "subst" "0" "04419" "COL1A2_000684" "g.94056967G>A" "" "{PMID:Budsamongkol et al., 2019:31193991}" "" "" "" "De novo" "" "" "" "" "" "g.94427655G>A" "" "pathogenic" "ACMG" "0000912828" "0" "90" "7" "94030877" "94030877" "subst" "0" "02329" "COL1A2_000224" "g.94030877A>G" "" "" "" "COL1A2(NM_000089.4):c.226-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000912829" "0" "90" "7" "94039107" "94039107" "subst" "0" "02329" "COL1A2_000029" "g.94039107G>A" "" "" "" "COL1A2(NM_000089.4):c.1009G>A (p.G337S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000912830" "0" "90" "7" "94039813" "94039813" "subst" "0" "02327" "COL1A2_000041" "g.94039813G>A" "" "" "" "COL1A2(NM_000089.4):c.1171G>A (p.G391S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000912831" "0" "70" "7" "94040223" "94040223" "subst" "0" "02327" "COL1A2_000764" "g.94040223T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000912832" "0" "10" "7" "94040360" "94040361" "del" "0" "02329" "COL1A2_000928" "g.94040360_94040361del" "" "" "" "COL1A2(NM_000089.3):c.1252-8_1252-7delTT, COL1A2(NM_000089.4):c.1252-8_1252-7delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912833" "0" "50" "7" "94052330" "94052330" "subst" "6.9049E-5" "02326" "COL1A2_000945" "g.94052330G>A" "" "" "" "COL1A2(NM_000089.3):c.2465G>A (p.R822H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000918100" "0" "57" "7" "94037165" "94037165" "subst" "0" "04305" "COL1A2_000955" "g.94037165C>A" "" "{PMID:Junkiert-Czarnecka et al., 2022:35723357}" "" "" "" "Unknown" "" "" "0" "" "" "g.94407853C>A" "" "VUS" "ACMG" "0000918101" "0" "50" "7" "94037516" "94037516" "subst" "0" "04305" "COL1A2_000956" "g.94037516G>A" "" "{PMID:Junkiert-Czarnecka et al., 2022:35723357}" "" "" "" "Unknown" "" "" "" "" "" "g.94408204G>A" "" "VUS" "ACMG" "0000918102" "0" "57" "7" "94057784" "94057784" "subst" "1.22527E-5" "04305" "COL1A2_000963" "g.94057784A>G" "" "{PMID:Junkiert-Czarnecka et al., 2022:35723357}" "" "" "" "Unknown" "" "" "0" "" "" "g.94428472A>G" "" "VUS" "ACMG" "0000918103" "0" "57" "7" "94054531" "94054531" "subst" "1.21946E-5" "04305" "COL1A2_000961" "g.94054531C>T" "" "{PMID:Junkiert-Czarnecka et al., 2022:35723357}" "" "" "" "Unknown" "" "" "0" "" "" "g.94425219C>T" "" "VUS" "ACMG" "0000918104" "0" "57" "7" "94028382" "94028382" "subst" "8.12301E-6" "04305" "COL1A2_000391" "g.94028382C>A" "" "{PMID:Junkiert-Czarnecka et al., 2022:35723357}" "" "" "" "Unknown" "" "" "0" "" "" "g.94399070C>A" "" "VUS" "ACMG" "0000918105" "0" "57" "7" "94053724" "94053724" "subst" "4.06078E-5" "04305" "COL1A2_000765" "g.94053724A>C" "" "{PMID:Junkiert-Czarnecka et al., 2022:35723357}" "" "" "" "Unknown" "" "" "0" "" "" "g.94424412A>C" "" "VUS" "ACMG" "0000918106" "0" "59" "7" "94056984" "94056984" "subst" "0.000963242" "04305" "COL1A2_000394" "g.94056984G>A" "" "{PMID:Junkiert-Czarnecka et al., 2022:35723357}" "" "" "" "Unknown" "" "" "0" "" "" "g.94427672G>A" "" "pathogenic" "ACMG" "0000918372" "0" "90" "7" "94042422" "94042422" "subst" "0" "04465" "COL1A2_000946" "g.94042422G>T" "" "{PMID:Hemwong 2020:32071780}" "" "" "" "De novo" "" "" "0" "" "" "g.94413110G>T" "" "pathogenic (dominant)" "" "0000918376" "3" "90" "7" "94039107" "94039107" "subst" "0" "04465" "COL1A2_000029" "g.94039107G>A" "" "{PMID:Udomchaiprasertkul 2020:32081708}" "" "" "" "Germline" "" "" "0" "" "" "g.94409795G>A" "" "pathogenic" "" "0000918378" "1" "90" "7" "94039107" "94039107" "subst" "0" "00006" "COL1A2_000029" "g.94039107G>A" "" "{PMID:Udomchaiprasertkul 2020:32081708}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94409795G>A" "" "pathogenic (dominant)" "" "0000918843" "0" "90" "7" "94056375" "94056375" "subst" "0" "04465" "COL1A2_000947" "g.94056375T>A" "" "{DOI:He 2021:10.1210/jendso/bvab048.424}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic" "" "0000918845" "0" "90" "7" "94039590" "94039590" "subst" "0" "04465" "COL1A2_000036" "g.94039590G>A" "" "{PMID:Duangchan 2021:34015290}" "" "" "" "Unknown" "" "" "" "" "" "" "" "pathogenic" "" "0000918851" "0" "90" "7" "94056940" "94056940" "subst" "0" "04465" "COL1A2_000292" "g.94056940G>A" "" "{PMID:Redman 2021:34538206}" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "" "0000918863" "0" "70" "7" "94034033" "94034033" "subst" "0" "04136" "COL1A2_000001" "g.94034033G>A" "" "Leone 2023, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94404721G>A" "" "likely pathogenic" "" "0000918877" "0" "50" "7" "94049922" "94049922" "subst" "0" "04136" "COL1A2_000959" "g.94049922G>C" "" "Leone 2023, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94420610G>C" "" "VUS" "" "0000918881" "0" "50" "7" "94047138" "94047138" "subst" "0" "04136" "COL1A2_000958" "g.94047138G>A" "" "Leone 2023, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94417826G>A" "" "VUS" "" "0000918888" "10" "30" "7" "94039790" "94039790" "subst" "4.66997E-5" "04136" "COL1A2_000957" "g.94039790C>A" "" "Leone 2023, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94410478C>A" "" "likely benign" "" "0000918890" "0" "90" "7" "94037549" "94037549" "subst" "0" "04136" "COL1A2_000245" "g.94037549G>A" "" "Leone 2023, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94408237G>A" "" "pathogenic" "" "0000918907" "10" "30" "7" "94039790" "94039790" "subst" "4.66997E-5" "04136" "COL1A2_000957" "g.94039790C>A" "" "Leone 2023, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94410478C>A" "" "likely benign" "" "0000919285" "0" "90" "7" "94038697" "94038697" "subst" "0" "04465" "COL1A2_000948" "g.94038697G>C" "" "{PMID:Yang 2022:36140746}" "" "" "" "De novo" "" "" "" "" "" "" "" "likely pathogenic" "" "0000919286" "0" "90" "7" "94039590" "94039590" "subst" "0" "04465" "COL1A2_000036" "g.94039590G>A" "" "{PMID:Yang 2022:36140746}" "" "" "" "De novo" "" "" "" "" "" "" "" "likely pathogenic" "" "0000919287" "0" "90" "7" "94049863" "94049863" "subst" "0" "04465" "COL1A2_000546" "g.94049863G>T" "" "{PMID:Yang 2022:36140746}" "" "" "" "De novo" "" "" "" "" "" "" "" "VUS" "" "0000919288" "21" "90" "7" "94054923" "94054923" "subst" "0" "04465" "COL1A2_000949" "g.94054923G>A" "" "{PMID:Yang 2022:36140746}" "" "" "" "De novo" "" "" "" "" "" "" "" "likely pathogenic" "" "0000919289" "0" "90" "7" "94055789" "94055789" "subst" "0" "04465" "COL1A2_000950" "g.94055789G>A" "" "{PMID:Yang 2022:36140746}" "" "" "" "De novo" "" "" "" "" "" "" "" "VUS" "" "0000919302" "0" "90" "7" "94037502" "94037502" "subst" "2.03084E-5" "04465" "COL1A2_000951" "g.94037502G>A" "" "{PMID:Nadyrshina 2022:35052464}" "" "" "" "Unknown" "" "" "" "" "" "" "" "pathogenic" "" "0000919303" "0" "90" "7" "94038715" "94038715" "subst" "0" "04465" "COL1A2_000562" "g.94038715G>A" "" "{PMID:Nadyrshina 2022:35052464}" "" "" "" "Unknown" "" "" "" "" "" "" "" "pathogenic" "" "0000919305" "0" "90" "7" "94045778" "94045778" "subst" "0" "04465" "COL1A2_000952" "g.94045778G>A" "" "{PMID:Nadyrshina 2022:35052464}" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "" "0000919306" "0" "90" "7" "94045778" "94045778" "subst" "0" "04465" "COL1A2_000952" "g.94045778G>A" "" "{PMID:Nadyrshina 2022:35052464}" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "" "0000919307" "0" "90" "7" "94050366" "94050366" "subst" "0" "04465" "COL1A2_000656" "g.94050366G>C" "" "{PMID:Nadyrshina 2022:35052464}" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "" "0000919308" "0" "90" "7" "94054511" "94054511" "subst" "0" "04465" "COL1A2_000552" "g.94054511G>A" "" "{PMID:Nadyrshina 2022:35052464}" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "" "0000919310" "0" "90" "7" "94054511" "94054511" "subst" "0" "04465" "COL1A2_000552" "g.94054511G>A" "" "{PMID:Nadyrshina 2022:35052464}" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "" "0000919311" "0" "90" "7" "94055771" "94055771" "subst" "0" "04465" "COL1A2_000115" "g.94055771G>A" "" "{PMID:Nadyrshina 2022:35052464}" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "" "0000919312" "0" "90" "7" "94055771" "94055771" "subst" "0" "04465" "COL1A2_000115" "g.94055771G>A" "" "{PMID:Nadyrshina 2022:35052464}" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "" "0000919313" "0" "90" "7" "94056948" "94056948" "subst" "0" "04465" "COL1A2_000613" "g.94056948G>A" "" "{PMID:Nadyrshina 2022:35052464}" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "" "0000919563" "0" "90" "7" "94059581" "94059581" "subst" "0" "04465" "COL1A2_000953" "g.94059581A>G" "" "{PMID:Nadyrshina 2022:35052464}" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "" "0000919564" "0" "90" "7" "94059581" "94059581" "subst" "0" "04465" "COL1A2_000953" "g.94059581A>G" "" "{PMID:Nadyrshina 2022:35052464}" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "" "0000919577" "0" "90" "7" "94047069" "94047074" "dup" "0" "04465" "COL1A2_000954" "g.94047069_94047074dup" "" "{PMID:Nadyrshina 2022:35052464}" "" "1897_1902dupGCTGGT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94417757_94417762dup" "" "pathogenic (dominant)" "" "0000920714" "0" "90" "7" "94055798" "94055798" "subst" "0" "03779" "COL1A2_000505" "g.94055798G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000921079" "0" "90" "7" "94049961" "94049961" "subst" "0" "04465" "COL1A2_000960" "g.94049961G>C" "" "{PMID:Yang 2022:36140746}" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000921612" "0" "90" "7" "94039844" "94039844" "subst" "0" "04465" "COL1A2_000256" "g.94039844G>A" "" "{PMID:Nadyrshina 2022:3505246}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000921614" "0" "90" "7" "94039844" "94039844" "subst" "0" "04465" "COL1A2_000256" "g.94039844G>A" "" "{PMID:Nadyrshina 2022:3505246}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000921616" "0" "90" "7" "94055337" "94055337" "subst" "0" "04465" "COL1A2_000962" "g.94055337G>C" "" "{PMID:Nadyrshina 2022:3505246}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000921617" "0" "90" "7" "94055337" "94055337" "subst" "0" "04465" "COL1A2_000962" "g.94055337G>C" "" "{PMID:Nadyrshina 2022:3505246}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000924783" "0" "30" "7" "94042005" "94042005" "subst" "5.73484E-5" "02326" "COL1A2_000509" "g.94042005C>T" "" "" "" "COL1A2(NM_000089.3):c.1503+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924784" "0" "30" "7" "94042376" "94042376" "subst" "1.62443E-5" "02329" "COL1A2_000964" "g.94042376T>G" "" "" "" "COL1A2(NM_000089.4):c.1504-19T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924785" "0" "30" "7" "94047566" "94047566" "subst" "0" "02329" "COL1A2_000965" "g.94047566G>T" "" "" "" "COL1A2(NM_000089.4):c.1972-245G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924786" "0" "30" "7" "94048009" "94048009" "subst" "0" "02329" "COL1A2_000966" "g.94048009T>C" "" "" "" "COL1A2(NM_000089.4):c.2025+145T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924787" "0" "90" "7" "94050319" "94050319" "subst" "0" "02329" "COL1A2_000272" "g.94050319A>G" "" "" "" "COL1A2(NM_000089.4):c.2296-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000924788" "0" "30" "7" "94050338" "94050338" "subst" "1.62468E-5" "02326" "COL1A2_000967" "g.94050338C>G" "" "" "" "COL1A2(NM_000089.3):c.2313C>G (p.P771=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924789" "0" "30" "7" "94054472" "94054472" "subst" "0.00015438" "02326" "COL1A2_000548" "g.94054472G>A" "" "" "" "COL1A2(NM_000089.3):c.2717G>A (p.R906H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924790" "0" "90" "7" "94055072" "94055072" "subst" "0" "02329" "COL1A2_000968" "g.94055072G>C" "" "" "" "COL1A2(NM_000089.4):c.2846G>C (p.G949A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000924791" "0" "10" "7" "94055755" "94055755" "subst" "0.00151308" "02329" "COL1A2_000315" "g.94055755C>T" "" "" "" "COL1A2(NM_000089.4):c.3018C>T (p.G1006=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000927470" "0" "90" "7" "94056348" "94056348" "subst" "0" "04465" "COL1A2_000476" "g.94056348G>A" "" "{PMID:Kalayci 2023:36398383}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000927472" "0" "90" "7" "94041380" "94041380" "subst" "0" "04465" "COL1A2_000469" "g.94041380G>A" "" "{PMID:Kalayci 2023:36398383}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000927580" "21" "90" "7" "94054456" "94054456" "subst" "4.06286E-6" "04419" "COL1A2_000104" "g.94054456G>A" "" "{PMID:Gnoli et al., 2021:34025714}" "" "" "" "Germline" "?" "" "" "" "" "g.94425144G>A" "" "pathogenic" "ACMG" "0000927685" "0" "90" "7" "94056537" "94056537" "subst" "0" "04298" "COL1A2_000568" "g.94056537G>T" "" "{PMID:Wang 2019:30829463}" "" "" "" "Germline" "" "" "0" "" "" "g.94427225G>T" "" "pathogenic" "" "0000927686" "0" "90" "7" "94056537" "94056537" "subst" "0" "04298" "COL1A2_000568" "g.94056537G>T" "" "{PMID:Wang 2019:30829463}" "" "" "" "Germline" "" "" "0" "" "" "g.94427225G>T" "" "pathogenic" "" "0000927687" "0" "90" "7" "94056537" "94056537" "subst" "0" "04298" "COL1A2_000568" "g.94056537G>T" "" "{PMID:Wang 2019:30829463}" "" "" "" "Germline" "" "" "0" "" "" "g.94427225G>T" "" "pathogenic" "" "0000927688" "0" "90" "7" "94056537" "94056537" "subst" "0" "04298" "COL1A2_000568" "g.94056537G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94427225G>T" "" "pathogenic" "" "0000929388" "0" "90" "7" "94034006" "94034006" "subst" "0" "02329" "COL1A2_000463" "g.94034006G>A" "" "" "" "COL1A2(NM_000089.4):c.326G>A (p.G109D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000929389" "0" "10" "7" "94041412" "94041412" "subst" "0.000490858" "02329" "COL1A2_000969" "g.94041412C>T" "" "" "" "COL1A2(NM_000089.4):c.1383C>T (p.P461=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929390" "0" "50" "7" "94042447" "94042447" "subst" "2.84241E-5" "02326" "COL1A2_000970" "g.94042447G>A" "" "" "" "COL1A2(NM_000089.3):c.1556G>A (p.R519Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929391" "0" "70" "7" "94045727" "94045727" "subst" "0" "02329" "COL1A2_000971" "g.94045727G>A" "" "" "" "COL1A2(NM_000089.4):c.1775G>A (p.G592D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000929392" "0" "90" "7" "94047099" "94047099" "subst" "0" "02327" "COL1A2_000972" "g.94047099G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000929393" "0" "30" "7" "94053627" "94053627" "subst" "8.13392E-6" "02329" "COL1A2_000973" "g.94053627C>G" "" "" "" "COL1A2(NM_000089.4):c.2566-21C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929394" "0" "30" "7" "94055130" "94055130" "subst" "0.000501617" "02329" "COL1A2_000314" "g.94055130C>T" "" "" "" "COL1A2(NM_000089.4):c.2904C>T (p.P968=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929395" "0" "30" "7" "94057332" "94057332" "subst" "0" "02329" "COL1A2_000974" "g.94057332G>A" "" "" "" "COL1A2(NM_000089.4):c.3526+135G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929396" "0" "30" "7" "94058641" "94058641" "subst" "0.000484066" "02329" "COL1A2_000549" "g.94058641A>C" "" "" "" "COL1A2(NM_000089.4):c.3853A>C (p.N1285H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948963" "0" "30" "7" "94034040" "94034040" "subst" "0" "02329" "COL1A2_000975" "g.94034040T>C" "" "" "" "COL1A2(NM_000089.4):c.360T>C (p.P120=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948964" "0" "90" "7" "94035590" "94035590" "subst" "0" "02329" "COL1A2_000006" "g.94035590G>T" "" "" "" "COL1A2(NM_000089.4):c.569G>T (p.G190V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000948965" "0" "10" "7" "94039073" "94039073" "subst" "0.000784527" "02329" "COL1A2_000310" "g.94039073A>T" "" "" "" "COL1A2(NM_000089.4):c.975A>T (p.G325=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948966" "0" "30" "7" "94041593" "94041593" "subst" "0" "02329" "COL1A2_000976" "g.94041593A>G" "" "" "" "COL1A2(NM_000089.4):c.1404+160A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948967" "0" "10" "7" "94048862" "94048862" "subst" "0.00208806" "02326" "COL1A2_000359" "g.94048862G>A" "" "" "" "COL1A2(NM_000089.3):c.2078G>A (p.R693Q), COL1A2(NM_000089.4):c.2078G>A (p.(Arg693Gln), p.R693Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948968" "0" "90" "7" "94052387" "94052387" "subst" "0" "02329" "COL1A2_000977" "g.94052387G>C" "" "" "" "COL1A2(NM_000089.4):c.2522G>C (p.G841A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000948969" "0" "30" "7" "94054910" "94054910" "subst" "0" "02329" "COL1A2_000978" "g.94054910G>A" "" "" "" "COL1A2(NM_000089.4):c.2782-12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948970" "0" "90" "7" "94055736" "94055736" "del" "0" "02326" "COL1A2_000979" "g.94055736del" "" "" "" "COL1A2(NM_000089.3):c.2998-1delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000948971" "0" "50" "7" "94055768" "94055768" "subst" "0" "02326" "COL1A2_000980" "g.94055768C>T" "" "" "" "COL1A2(NM_000089.3):c.3031C>T (p.P1011S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948972" "0" "50" "7" "94056984" "94056984" "subst" "0.000963242" "01804" "COL1A2_000394" "g.94056984G>A" "" "" "" "COL1A2(NM_000089.3):c.3313G>A (p.(Gly1105Ser)), COL1A2(NM_000089.4):c.3313G>A (p.G1105S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000953697" "0" "70" "7" "94047054" "94047054" "subst" "0" "03779" "COL1A2_000981" "g.94047054G>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000959669" "0" "70" "7" "94039582" "94039582" "subst" "0" "03779" "COL1A2_000983" "g.94039582G>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000959670" "0" "70" "7" "94033880" "94033880" "subst" "1.6246E-5" "03779" "COL1A2_000982" "g.94033880C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs765868569" "0" "" "" "" "" "likely pathogenic" "" "0000964713" "0" "30" "7" "94029638" "94029638" "subst" "4.50222E-5" "02329" "COL1A2_000984" "g.94029638T>C" "" "" "" "COL1A2(NM_000089.4):c.225+38T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964714" "0" "10" "7" "94030867" "94030868" "dup" "0" "02326" "COL1A2_000985" "g.94030867_94030868dup" "" "" "" "COL1A2(NM_000089.3):c.226-12_226-11dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000964715" "0" "70" "7" "94037553" "94037553" "subst" "0" "02329" "COL1A2_000986" "g.94037553G>T" "" "" "" "COL1A2(NM_000089.4):c.693+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000964716" "0" "90" "7" "94038886" "94038886" "subst" "0" "02325" "COL1A2_000987" "g.94038886G>A" "" "" "" "COL1A2(NM_000089.4):c.902G>A (p.G301E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000964717" "0" "90" "7" "94045735" "94045735" "subst" "0" "02329" "COL1A2_000170" "g.94045735G>A" "" "" "" "COL1A2(NM_000089.4):c.1783G>A (p.G595S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000964718" "0" "30" "7" "94050334" "94050334" "subst" "8.12427E-5" "02329" "COL1A2_000723" "g.94050334C>T" "" "" "" "COL1A2(NM_000089.3):c.2309C>T (p.P770L), COL1A2(NM_000089.4):c.2309C>T (p.P770L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964719" "0" "10" "7" "94050390" "94050390" "subst" "0.000946823" "02329" "COL1A2_000988" "g.94050390G>C" "" "" "" "COL1A2(NM_000089.4):c.2349+16G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000964720" "0" "30" "7" "94051198" "94051198" "subst" "1.21841E-5" "02329" "COL1A2_000989" "g.94051198G>A" "" "" "" "COL1A2(NM_000089.4):c.2350-13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964721" "0" "10" "7" "94056265" "94056265" "del" "0" "02329" "COL1A2_000990" "g.94056265del" "" "" "" "COL1A2(NM_000089.4):c.3106-55delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000972056" "21" "99" "7" "94033887" "94033887" "subst" "0" "02284" "COL1A2_000936" "g.94033887G>A" "" "" "" "" "This patient has an affected mother carrying the same variant." "Germline" "yes" "" "0" "" "" "g.94404574G>A" "" "likely pathogenic (maternal)" "ACMG" "0000972090" "0" "70" "7" "94055072" "94055072" "subst" "0" "03779" "COL1A2_000991" "g.94055072G>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000972091" "0" "70" "7" "94055072" "94055072" "subst" "0" "03779" "COL1A2_000991" "g.94055072G>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000977901" "0" "50" "7" "94039771" "94039771" "subst" "0" "02329" "COL1A2_000992" "g.94039771G>A" "" "" "" "COL1A2(NM_000089.4):c.1129G>A (p.E377K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977902" "0" "30" "7" "94044816" "94044816" "subst" "0" "02329" "COL1A2_000993" "g.94044816A>G" "" "" "" "COL1A2(NM_000089.4):c.1764+234A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977903" "0" "50" "7" "94045724" "94045724" "subst" "0" "01804" "COL1A2_000994" "g.94045724G>A" "" "" "" "COL1A2(NM_000089.4):c.1772G>A (p.(Arg591His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977904" "0" "90" "7" "94045753" "94045753" "subst" "0" "02327" "COL1A2_000070" "g.94045753G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000977905" "0" "10" "7" "94048862" "94048862" "subst" "0.00208806" "01804" "COL1A2_000359" "g.94048862G>A" "" "" "" "COL1A2(NM_000089.3):c.2078G>A (p.R693Q), COL1A2(NM_000089.4):c.2078G>A (p.(Arg693Gln), p.R693Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000977906" "0" "30" "7" "94049841" "94049841" "subst" "0" "02329" "COL1A2_000995" "g.94049841T>C" "" "" "" "COL1A2(NM_000089.4):c.2188-12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977907" "0" "50" "7" "94049910" "94049910" "subst" "0" "02329" "COL1A2_000996" "g.94049910G>C" "" "" "" "COL1A2(NM_000089.4):c.2245G>C (p.E749Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977908" "0" "30" "7" "94050089" "94050089" "subst" "0" "02329" "COL1A2_000997" "g.94050089T>C" "" "" "" "COL1A2(NM_000089.4):c.2295+129T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977909" "0" "30" "7" "94050123" "94050123" "subst" "0" "02329" "COL1A2_000998" "g.94050123G>A" "" "" "" "COL1A2(NM_000089.4):c.2295+163G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977910" "0" "30" "7" "94052544" "94052544" "subst" "0" "02329" "COL1A2_000999" "g.94052544A>G" "" "" "" "COL1A2(NM_000089.4):c.2565+114A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977911" "0" "70" "7" "94054465" "94054465" "subst" "0" "02327" "COL1A2_001000" "g.94054465G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000977912" "0" "50" "7" "94057161" "94057161" "subst" "0" "01804" "COL1A2_001001" "g.94057161C>G" "" "" "" "COL1A2(NM_000089.4):c.3490C>G (p.(Arg1164Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977913" "0" "50" "7" "94057754" "94057754" "subst" "6.51259E-5" "01804" "COL1A2_001002" "g.94057754G>A" "" "" "" "COL1A2(NM_000089.4):c.3676G>A (p.(Val1226Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000986098" "0" "30" "7" "94039047" "94039047" "subst" "3.65553E-5" "03779" "COL1A2_000926" "g.94039047G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs142803502" "0" "" "" "" "" "likely benign" "" "0000989262" "0" "30" "7" "94054466" "94054466" "subst" "2.03125E-5" "03779" "COL1A2_001003" "g.94054466G>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs775246283" "0" "" "" "" "" "likely benign" "" "0000996751" "0" "10" "7" "94027718" "94027718" "subst" "0.000329613" "02329" "COL1A2_001004" "g.94027718C>T" "" "" "" "COL1A2(NM_000089.4):c.96+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000996752" "0" "10" "7" "94037139" "94037139" "subst" "0.000480601" "02329" "COL1A2_001005" "g.94037139C>T" "" "" "" "COL1A2(NM_000089.4):c.595-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000996753" "0" "90" "7" "94038715" "94038715" "subst" "0" "02329" "COL1A2_000562" "g.94038715G>A" "" "" "" "COL1A2(NM_000089.4):c.874G>A (p.G292S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000996754" "0" "30" "7" "94039079" "94039079" "subst" "0.000268397" "02326" "COL1A2_001006" "g.94039079C>T" "" "" "" "COL1A2(NM_000089.3):c.981C>T (p.R327=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996755" "0" "30" "7" "94040345" "94040345" "subst" "0" "02329" "COL1A2_001007" "g.94040345G>T" "" "" "" "COL1A2(NM_000089.4):c.1252-23G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996756" "0" "30" "7" "94040361" "94040361" "del" "0" "01804" "COL1A2_000843" "g.94040361del" "" "" "" "COL1A2(NM_000089.3):c.1252-7delT, COL1A2(NM_000089.3):c.1252-7delT (p.?), COL1A2(NM_000089.4):c.1252-7delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996757" "0" "50" "7" "94041431" "94041431" "subst" "2.0509E-5" "01804" "COL1A2_000929" "g.94041431G>A" "" "" "" "COL1A2(NM_000089.3):c.1402G>A (p.(Val468Ile), p.V468I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996758" "0" "30" "7" "94041921" "94041921" "subst" "4.07329E-6" "01804" "COL1A2_001008" "g.94041921C>T" "" "" "" "COL1A2(NM_000089.3):c.1430C>T (p.(Pro477Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996759" "0" "90" "7" "94043204" "94043204" "subst" "0" "02327" "COL1A2_000265" "g.94043204A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000996760" "0" "30" "7" "94045501" "94045501" "subst" "0" "02329" "COL1A2_001009" "g.94045501C>T" "" "" "" "COL1A2(NM_000089.4):c.1765-216C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996761" "0" "30" "7" "94052629" "94052629" "subst" "0" "02329" "COL1A2_001010" "g.94052629G>T" "" "" "" "COL1A2(NM_000089.4):c.2565+199G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996762" "0" "50" "7" "94053651" "94053651" "subst" "4.4682E-5" "01804" "COL1A2_000858" "g.94053651C>T" "" "" "" "COL1A2(NM_000089.3):c.2569C>T (p.P857S, p.(Pro857Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996763" "0" "30" "7" "94055122" "94055122" "subst" "4.1294E-6" "01804" "COL1A2_001011" "g.94055122C>T" "" "" "" "COL1A2(NM_000089.3):c.2896C>T (p.(His966Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996764" "0" "50" "7" "94056945" "94056945" "subst" "0" "01804" "COL1A2_001012" "g.94056945C>T" "" "" "" "COL1A2(NM_000089.3):c.3274C>T (p.(Pro1092Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996765" "0" "50" "7" "94057039" "94057039" "subst" "0" "01804" "COL1A2_001013" "g.94057039G>C" "" "" "" "COL1A2(NM_000089.3):c.3368G>C (p.(Arg1123Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996766" "0" "30" "7" "94057177" "94057177" "subst" "8.1584E-6" "01804" "COL1A2_001014" "g.94057177G>A" "" "" "" "COL1A2(NM_000089.3):c.3506G>A (p.(Ser1169Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996767" "0" "50" "7" "94057784" "94057784" "subst" "1.22527E-5" "02329" "COL1A2_000963" "g.94057784A>G" "" "" "" "COL1A2(NM_000089.4):c.3706A>G (p.S1236G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001007099" "0" "50" "7" "94037502" "94037502" "subst" "2.03084E-5" "03779" "COL1A2_000951" "g.94037502G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs756743425" "0" "" "" "" "" "VUS" "" "0001007465" "0" "70" "7" "94057161" "94057161" "subst" "8.15129E-6" "00006" "COL1A2_000869" "g.94057161C>T" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "rs771979105" "0" "" "" "g.94427849C>T" "" "VUS" "" "0001007466" "0" "70" "7" "94057164" "94057164" "subst" "1.22284E-5" "00006" "COL1A2_001018" "g.94057164G>A" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "rs754149044" "0" "" "" "g.94427852G>A" "" "VUS" "" "0001007467" "0" "70" "7" "94038671" "94038671" "subst" "1.21902E-5" "00006" "COL1A2_001016" "g.94038671G>C" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "rs752431578" "0" "" "" "g.94409359G>C" "" "likely pathogenic" "" "0001007468" "0" "70" "7" "94034988" "94034988" "subst" "3.24921E-5" "00006" "COL1A2_001015" "g.94034988G>A" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "rs772512344" "0" "" "" "g.94405676G>A" "" "VUS" "" "0001007469" "0" "70" "7" "94049587" "94049587" "subst" "8.13081E-6" "00006" "COL1A2_001017" "g.94049587C>T" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "rs139199272" "0" "" "" "g.94420275C>T" "" "VUS" "" "0001007470" "0" "70" "7" "94052330" "94052330" "subst" "6.9049E-5" "00006" "COL1A2_000945" "g.94052330G>A" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "rs1800240" "0" "" "" "g.94423018G>A" "" "VUS" "" "0001011776" "0" "90" "7" "94050339" "94050339" "subst" "0" "03779" "COL1A2_000094" "g.94050339G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs72658185" "0" "" "" "" "" "pathogenic" "" "0001014392" "0" "30" "7" "94053642" "94053642" "subst" "0.000117836" "02329" "COL1A2_000807" "g.94053642A>G" "" "" "" "COL1A2(NM_000089.3):c.2566-6A>G (p.(=)), COL1A2(NM_000089.4):c.2566-6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001021674" "0" "30" "7" "94030909" "94030909" "subst" "8.23249E-6" "03779" "COL1A2_001019" "g.94030909G>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs777971816" "0" "" "" "" "" "likely benign" "" "0001022133" "0" "50" "7" "94051267" "94051267" "subst" "4.06388E-6" "04796" "COL1A2_000934" "g.94051267A>G" "" "" "" "" "no effect on RNA" "In vitro (cloned)" "" "" "0" "" "" "g.94421955A>G" "" "VUS" "" "0001025443" "0" "50" "7" "94034542" "94034542" "subst" "0" "02326" "COL1A2_001020" "g.94034542A>C" "" "" "" "COL1A2(NM_000089.3):c.464A>C (p.E155A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025444" "0" "30" "7" "94037407" "94037407" "subst" "0" "02329" "COL1A2_001021" "g.94037407C>T" "" "" "" "COL1A2(NM_000089.4):c.640-88C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025445" "0" "30" "7" "94039046" "94039046" "subst" "0.00777398" "02329" "COL1A2_000349" "g.94039046C>T" "" "" "" "COL1A2(NM_000089.4):c.948C>T (p.G316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025446" "0" "30" "7" "94039542" "94039542" "subst" "0.00539517" "02329" "COL1A2_001022" "g.94039542A>G" "" "" "" "COL1A2(NM_000089.4):c.1036-12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025447" "0" "90" "7" "94039563" "94039563" "subst" "0" "02329" "COL1A2_000150" "g.94039563G>T" "" "" "" "COL1A2(NM_000089.4):c.1045G>T (p.G349C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001025448" "0" "50" "7" "94040384" "94040384" "subst" "9.20931E-5" "02325" "COL1A2_000290" "g.94040384G>A" "" "" "" "COL1A2(NM_000089.4):c.1268G>A (p.R423H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025449" "0" "50" "7" "94040393" "94040393" "subst" "0" "02325" "COL1A2_000877" "g.94040393G>A" "" "" "" "COL1A2(NM_000089.3):c.1277G>A (p.S426N), COL1A2(NM_000089.4):c.1277G>A (p.(Ser426Asn), p.S426N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025450" "0" "30" "7" "94047119" "94047119" "subst" "0" "02329" "COL1A2_001023" "g.94047119C>A" "" "" "" "COL1A2(NM_000089.4):c.1947C>A (p.G649=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025451" "0" "50" "7" "94049588" "94049588" "subst" "0.000678851" "02325" "COL1A2_000178" "g.94049588G>A" "" "" "" "COL1A2(NM_000089.3):c.2123G>A (p.R708Q, p.(Arg708Gln)), COL1A2(NM_000089.4):c.2123G>A (p.R708Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025452" "0" "50" "7" "94052290" "94052290" "subst" "0.000211181" "02326" "COL1A2_000855" "g.94052290C>T" "" "" "" "COL1A2(NM_000089.3):c.2425C>T (p.P809S, p.(Pro809Ser)), COL1A2(NM_000089.4):c.2425C>T (p.P809S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025453" "0" "30" "7" "94053642" "94053642" "subst" "0.000117836" "02325" "COL1A2_000807" "g.94053642A>G" "" "" "" "COL1A2(NM_000089.3):c.2566-6A>G (p.(=)), COL1A2(NM_000089.4):c.2566-6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025454" "0" "50" "7" "94056984" "94056984" "subst" "0.000963242" "02325" "COL1A2_000394" "g.94056984G>A" "" "" "" "COL1A2(NM_000089.3):c.3313G>A (p.(Gly1105Ser)), COL1A2(NM_000089.4):c.3313G>A (p.G1105S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036586" "0" "30" "7" "94027718" "94027718" "subst" "0.000329613" "01804" "COL1A2_001004" "g.94027718C>T" "" "" "" "COL1A2(NM_000089.4):c.96+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036587" "0" "50" "7" "94034154" "94034154" "subst" "2.84347E-5" "01804" "COL1A2_001024" "g.94034154C>T" "" "" "" "COL1A2(NM_000089.4):c.382C>T (p.(Pro128Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036588" "0" "50" "7" "94035614" "94035614" "subst" "1.21862E-5" "01804" "COL1A2_001025" "g.94035614A>G" "" "" "" "COL1A2(NM_000089.4):c.593A>G (p.(Lys198Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036589" "0" "50" "7" "94037499" "94037499" "subst" "4.06184E-6" "01804" "COL1A2_001026" "g.94037499C>T" "" "" "" "COL1A2(NM_000089.4):c.644C>T (p.(Ala215Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036590" "0" "50" "7" "94039078" "94039078" "subst" "1.62647E-5" "01804" "COL1A2_001027" "g.94039078G>A" "" "" "" "COL1A2(NM_000089.4):c.980G>A (p.(Arg327His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036591" "0" "30" "7" "94039091" "94039091" "subst" "4.07027E-6" "01804" "COL1A2_000886" "g.94039091C>T" "" "" "" "COL1A2(NM_000089.3):c.993C>T (p.G331=), COL1A2(NM_000089.4):c.993C>T (p.(Gly331=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036592" "0" "70" "7" "94040202" "94040202" "subst" "4.06065E-6" "01804" "COL1A2_001028" "g.94040202G>C" "" "" "" "COL1A2(NM_000089.4):c.1199G>C (p.(Gly400Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001036593" "0" "50" "7" "94040224" "94040225" "delins" "0" "01804" "COL1A2_001029" "g.94040224_94040225delinsCT" "" "" "" "COL1A2(NM_000089.4):c.1221_1222delinsCT (p.(Pro408Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036594" "0" "50" "7" "94040225" "94040225" "subst" "0" "01804" "COL1A2_001030" "g.94040225C>T" "" "" "" "COL1A2(NM_000089.4):c.1222C>T (p.(Pro408Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036595" "0" "50" "7" "94045723" "94045723" "subst" "0" "01804" "COL1A2_001031" "g.94045723C>T" "" "" "" "COL1A2(NM_000089.4):c.1771C>T (p.(Arg591Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036596" "0" "30" "7" "94047048" "94047048" "subst" "1.86291E-5" "01804" "COL1A2_001032" "g.94047048G>A" "" "" "" "COL1A2(NM_000089.4):c.1876G>A (p.(Val626Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036597" "0" "30" "7" "94047804" "94047804" "subst" "8.12539E-6" "02329" "COL1A2_001033" "g.94047804C>T" "" "" "" "COL1A2(NM_000089.4):c.1972-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036598" "0" "50" "7" "94049710" "94049710" "subst" "4.06279E-5" "01804" "COL1A2_001034" "g.94049710G>A" "" "" "" "COL1A2(NM_000089.4):c.2141G>A (p.(Arg714His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036599" "0" "50" "7" "94049737" "94049737" "subst" "4.4682E-5" "01804" "COL1A2_000720" "g.94049737A>T" "" "" "" "COL1A2(NM_000089.4):c.2168A>T (p.(Asn723Ile), p.N723I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036600" "0" "50" "7" "94049886" "94049886" "subst" "0" "01804" "COL1A2_001035" "g.94049886A>G" "" "" "" "COL1A2(NM_000089.4):c.2221A>G (p.(Arg741Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036601" "0" "50" "7" "94057152" "94057152" "subst" "2.03706E-5" "01804" "COL1A2_000922" "g.94057152C>T" "" "" "" "COL1A2(NM_000089.4):c.3481C>T (p.(Arg1161Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045331" "10" "90" "7" "94058542" "94058542" "subst" "2.8472E-5" "04854" "COL1A2_001036" "g.94058542A>G" "" "" "" "g.39670A>G" "submitted for publication; associated with iliac aneurysms in proband and 3 male 1* relatives at age >60y" "Germline" "yes" "rs761465504" "0" "" "" "g.94429230A>G" "" "pathogenic (dominant)" "" "0001046132" "0" "50" "7" "94050355" "94050355" "subst" "2.43702E-5" "02327" "COL1A2_000796" "g.94050355G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046133" "0" "50" "7" "94058667" "94058667" "subst" "8.13471E-6" "02325" "COL1A2_000893" "g.94058667G>T" "" "" "" "COL1A2(NM_000089.3):c.3879G>T (p.Q1293H), COL1A2(NM_000089.4):c.3879G>T (p.Q1293H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001047776" "0" "90" "7" "94054510" "94054510" "subst" "4.06349E-5" "03779" "COL1A2_000578" "g.94054510G>A" "" "" "" "" "" "Unknown" "" "rs749621872" "0" "" "" "" "" "pathogenic" "" "0001048264" "0" "70" "7" "94034032" "94034032" "subst" "0" "00006" "COL1A2_001037" "g.94034032G>C" "" "{PMID:Tuysuz 2022:34902613}" "" "" "ACMG" "De novo" "" "" "0" "" "" "g.94404720G>C" "" "likely pathogenic" "" "0001048265" "1" "90" "7" "94035598" "94035598" "subst" "4.06187E-6" "00006" "COL1A2_000007" "g.94035598G>A" "" "{PMID:Tuysuz 2022:34902613}" "" "" "ACMG PM2, PP3, BP1" "Germline" "" "" "0" "" "" "g.94406286G>A" "VCV000265387.6" "pathogenic" "" "0001048266" "0" "90" "7" "94038080" "94038080" "subst" "0" "00006" "COL1A2_000248" "g.94038080A>G" "" "{PMID:Tuysuz 2022:34902613}" "" "" "ACMG PM1, PM2, PM5, PP2, PP3, PP1" "De novo" "" "" "0" "" "" "g.94408768A>G" "" "pathogenic" "" "0001048267" "0" "70" "7" "94038670" "94038670" "subst" "0" "00006" "COL1A2_000345" "g.94038670G>C" "" "{PMID:Tuysuz 2022:34902613}" "" "" "ACMG" "De novo" "" "" "0" "" "" "g.94409358G>C" "" "likely pathogenic" "" "0001048268" "0" "90" "7" "94039080" "94039080" "subst" "0" "00006" "COL1A2_000025" "g.94039080G>A" "" "{PMID:Tuysuz 2022:34902613}" "" "" "" "De novo" "" "" "0" "" "" "g.94409768G>A" "VCV000456848.6" "pathogenic" "" "0001048269" "0" "90" "7" "94039080" "94039080" "subst" "0" "00006" "COL1A2_000025" "g.94039080G>A" "" "{PMID:Tuysuz 2022:34902613}" "" "" "" "De novo" "" "" "0" "" "" "g.94409768G>A" "VCV000456848.6" "pathogenic" "" "0001048270" "1" "70" "7" "94039096" "94039104" "dup" "0" "00006" "COL1A2_001038" "g.94039096_94039104dup" "" "{PMID:Tuysuz 2022:34902613}" "" "" "ACMG" "Germline" "" "" "0" "" "" "g.94409784_94409792dup" "" "likely pathogenic" "" "0001048271" "1" "90" "7" "94039107" "94039107" "subst" "0" "00006" "COL1A2_000029" "g.94039107G>A" "" "{PMID:Tuysuz 2022:34902613}" "" "" "ACMG PM1, PM2, PP2" "Germline" "" "" "0" "" "" "g.94409795G>A" "VCV000425643.7" "pathogenic" "" "0001048272" "0" "70" "7" "94039786" "94039786" "subst" "0" "00006" "COL1A2_000497" "g.94039786G>A" "" "{PMID:Tuysuz 2022:34902613}" "" "" "ACMG" "De novo" "" "" "0" "" "" "g.94410474G>A" "" "likely pathogenic" "" "0001048273" "1" "90" "7" "94041968" "94041968" "subst" "0" "00006" "COL1A2_001039" "g.94041968G>A" "" "{PMID:Tuysuz 2022:34902613}" "" "" "ACMG" "Germline" "" "" "0" "" "" "g.94412656G>A" "" "pathogenic" "" "0001048274" "0" "90" "7" "94045753" "94045753" "subst" "0" "00006" "COL1A2_000070" "g.94045753G>A" "" "{PMID:Tuysuz 2022:34902613}" "" "" "" "De novo" "" "" "0" "" "" "g.94416441G>A" "VCV000425649.4" "pathogenic" "" "0001048275" "1" "90" "7" "94045753" "94045753" "subst" "0" "00006" "COL1A2_000070" "g.94045753G>A" "" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Germline" "" "" "0" "" "" "g.94416441G>A" "VCV000425649.4" "pathogenic" "" "0001048276" "0" "90" "7" "94049917" "94049917" "subst" "0" "00006" "COL1A2_000536" "g.94049917G>T" "" "{PMID:Tuysuz 2022:34902613}" "" "" "" "De novo" "" "" "0" "" "" "g.94420605G>T" "VCV000965406.2" "pathogenic" "" "0001048277" "0" "70" "7" "94049926" "94049926" "subst" "0" "00006" "COL1A2_001040" "g.94049926G>A" "" "{PMID:Tuysuz 2022:34902613}" "" "" "ACMG PM2, PP3, BP1" "De novo" "" "" "0" "" "" "g.94420614G>A" "VCV000547020.7" "likely pathogenic" "" "0001048278" "0" "70" "7" "94050339" "94050339" "subst" "0" "00006" "COL1A2_000502" "g.94050339G>T" "" "{PMID:Tuysuz 2022:34902613}" "" "" "ACMG" "De novo" "" "" "0" "" "" "g.94421027G>T" "" "likely pathogenic" "" "0001048279" "1" "70" "7" "94052306" "94052306" "subst" "0" "00006" "COL1A2_000388" "g.94052306G>A" "" "{PMID:Tuysuz 2022:34902613}" "" "" "ACMG PM2, PP2, PP3" "Germline" "" "" "0" "" "" "g.94422994G>A" "VCV000526888.1" "likely pathogenic" "" "0001048280" "1" "90" "7" "94054931" "94054931" "subst" "0" "00006" "COL1A2_000635" "g.94054931G>A" "" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Germline" "" "" "0" "" "" "g.94425619G>A" "VCV000861061.2" "pathogenic" "" "0001048281" "0" "90" "7" "94055326" "94055334" "dup" "0" "00006" "COL1A2_000219" "g.94055326_94055334dup" "" "{PMID:Tuysuz 2022:34902613}" "" "2960_2968dupTTGGTCCTG" "" "De novo" "" "" "0" "" "" "g.94426014_94426022dup" "VCV000521055.2" "pathogenic" "" "0001048282" "0" "90" "7" "94055771" "94055771" "subst" "0" "00006" "COL1A2_000115" "g.94055771G>A" "" "{PMID:Tuysuz 2022:34902613}" "" "" "ACMG PM2, PP3, BP1" "De novo" "" "" "0" "" "" "g.94426459G>A" "VCV000216908.2" "pathogenic" "" "0001048283" "0" "90" "7" "94057659" "94057665" "del" "0" "00006" "COL1A2_001041" "g.94057659_94057665del" "" "{PMID:Tuysuz 2022:34902613}" "" "3581_3587delACTGTGA" "ACMG PVS1, PM2" "De novo" "" "" "0" "" "" "g.94428347_94428353del" "" "pathogenic" "" "0001048284" "1" "70" "7" "94039078" "94039078" "subst" "1.62647E-5" "00006" "COL1A2_001027" "g.94039078G>A" "" "{PMID:Tuysuz 2022:34902613}" "" "" "ACMG PVS1, PM2, PP3, PP5, PM6" "Germline" "" "" "0" "" "" "g.94409766G>A" "" "likely pathogenic" "" "0001052727" "0" "50" "7" "94030941" "94030941" "subst" "1.63385E-5" "01804" "COL1A2_001042" "g.94030941A>C" "" "" "" "COL1A2(NM_000089.4):c.279+9A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052728" "0" "50" "7" "94040393" "94040393" "subst" "0" "01804" "COL1A2_000877" "g.94040393G>A" "" "" "" "COL1A2(NM_000089.3):c.1277G>A (p.S426N), COL1A2(NM_000089.4):c.1277G>A (p.(Ser426Asn), p.S426N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052729" "0" "50" "7" "94041944" "94041944" "subst" "0" "01804" "COL1A2_001043" "g.94041944G>A" "" "" "" "COL1A2(NM_000089.4):c.1453G>A (p.(Ala485Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052730" "0" "50" "7" "94052354" "94052354" "subst" "1.21858E-5" "01804" "COL1A2_001044" "g.94052354G>A" "" "" "" "COL1A2(NM_000089.4):c.2489G>A (p.(Arg830Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052731" "0" "90" "7" "94055771" "94055771" "subst" "0" "01804" "COL1A2_000115" "g.94055771G>A" "" "" "" "COL1A2(NM_000089.4):c.3034G>A (p.(Gly1012Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001052732" "0" "50" "7" "94056566" "94056566" "subst" "9.3723E-5" "01804" "COL1A2_001045" "g.94056566C>A" "" "" "" "COL1A2(NM_000089.4):c.3226C>A (p.(Pro1076Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052733" "0" "50" "7" "94057075" "94057075" "subst" "1.22061E-5" "01804" "COL1A2_001046" "g.94057075T>C" "" "" "" "COL1A2(NM_000089.4):c.3404T>C (p.(Val1135Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052734" "0" "30" "7" "94057751" "94057751" "subst" "4.88349E-5" "01804" "COL1A2_001047" "g.94057751C>T" "" "" "" "COL1A2(NM_000089.4):c.3673C>T (p.(His1225Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 COL1A2 ## Count = 1852 "{{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}}" "{{VariantOnTranscript/Consequence/Predicted}}" "{{VariantOnTranscript/Protein/Legacy}}" "0000130119" "00005456" "90" "2260" "0" "2260" "0" "c.2260G>T" "r.(?)" "p.(Gly754Cys)" "37" "" "" "0000169340" "00005456" "70" "556" "0" "556" "0" "c.556G>T" "r.(?)" "p.(Asp186Tyr)" "12" "" "" "0000171993" "00005456" "30" "1764" "6" "1764" "6" "c.1764+6T>C" "r.spl?" "p.(=)" "30i" "" "" "0000221899" "00005456" "99" "479" "0" "479" "0" "c.479G>A" "r.(?)" "p.(Gly160Glu)" "10" "" "" "0000222082" "00005456" "79" "2719" "0" "2719" "0" "c.2719G>C" "r.(?)" "p.(Gly907Arg)" "42" "" "" "0000222083" "00005456" "79" "2116" "0" "2117" "0" "c.2116_2117insCTCCTGCTG" "r.(?)" "p.(Ala705_Gly706insAlaProAla)" "35" "" "" "0000222084" "00005456" "79" "1082" "0" "1082" "0" "c.1082G>A" "r.(?)" "p.(Gly361Asp)" "20" "" "" "0000222849" "00005456" "99" "793" "0" "793" "0" "c.793G>T" "r.(?)" "p.(Gly265Cys)" "17" "" "" "0000248332" "00005456" "10" "1665" "15" "1665" "15" "c.1665+15A>G" "r.(=)" "p.(=)" "28i" "" "" "0000250067" "00005456" "10" "1665" "15" "1665" "15" "c.1665+15A>G" "r.(=)" "p.(=)" "28i" "" "" "0000250107" "00005456" "10" "1446" "0" "1446" "0" "c.1446A>C" "r.(?)" "p.(Pro482=)" "25" "" "" "0000250218" "00005456" "10" "82" "-12" "82" "-12" "c.82-12A>G" "r.(=)" "p.(=)" "2i" "" "" "0000250219" "00005456" "10" "1350" "11" "1350" "11" "c.1350+11A>T" "r.(=)" "p.(=)" "23i" "" "" "0000250442" "00005456" "30" "639" "19" "639" "19" "c.639+19A>T" "r.(=)" "p.(=)" "13i" "" "" "0000255247" "00005456" "30" "226" "-10" "226" "-10" "c.226-10A>T" "r.(=)" "p.(=)" "5i" "" "" "0000266929" "00005456" "10" "1252" "-7" "1252" "-7" "c.1252-7del" "r.(=)" "p.(=)" "22i" "" "" "0000266930" "00005456" "10" "1645" "0" "1645" "0" "c.1645C>G" "r.(?)" "p.(Pro549Ala)" "28" "" "" "0000266931" "00005456" "10" "3135" "0" "3135" "0" "c.3135C>T" "r.(?)" "p.(Gly1045=)" "47" "" "" "0000266932" "00005456" "10" "936" "14" "936" "14" "c.936+14C>T" "r.(=)" "p.(=)" "18i" "" "" "0000268284" "00005456" "30" "1036" "-14" "1036" "-14" "c.1036-14G>A" "r.(=)" "p.(=)" "19i" "" "" "0000268285" "00005456" "30" "1089" "0" "1089" "0" "c.1089C>G" "r.(?)" "p.(Pro363=)" "20" "" "" "0000268286" "00005456" "30" "1090" "-16" "1090" "-16" "c.1090-16T>C" "r.(=)" "p.(=)" "20i" "" "" "0000268287" "00005456" "90" "1171" "0" "1171" "0" "c.1171G>A" "r.(?)" "p.(Gly391Ser)" "21" "" "" "0000268288" "00005456" "70" "1197" "5" "1197" "5" "c.1197+5G>C" "r.spl?" "p.?" "" "" "" "0000268289" "00005456" "10" "1645" "0" "1645" "0" "c.1645C>G" "r.(?)" "p.(Pro549Ala)" "28" "" "" "0000268290" "00005456" "30" "180" "0" "180" "0" "c.180C>A" "r.(?)" "p.(Gly60=)" "5" "" "" "0000268291" "00005456" "10" "1878" "0" "1878" "0" "c.1878G>T" "r.(?)" "p.(Val626=)" "32" "" "" "0000268292" "00005456" "30" "1971" "15" "1971" "15" "c.1971+15C>A" "r.(=)" "p.(=)" "32i" "" "" "0000268293" "00005456" "10" "2078" "0" "2078" "0" "c.2078G>A" "r.(?)" "p.(Arg693Gln)" "34" "" "" "0000268294" "00005456" "30" "2123" "0" "2123" "0" "c.2123G>A" "r.(?)" "p.(Arg708Gln)" "35" "" "" "0000268295" "00005456" "30" "2274" "0" "2274" "0" "c.2274C>T" "r.(?)" "p.(Pro758=)" "37" "" "" "0000268296" "00005456" "30" "2320" "0" "2320" "0" "c.2320G>T" "r.(?)" "p.(Ala774Ser)" "38" "" "" "0000268297" "00005456" "30" "2425" "0" "2425" "0" "c.2425C>T" "r.(?)" "p.(Pro809Ser)" "40" "" "" "0000268298" "00005456" "10" "246" "0" "246" "0" "c.246T>C" "r.(?)" "p.(Asp82=)" "6" "" "" "0000268299" "00005456" "30" "2754" "0" "2754" "0" "c.2754C>T" "r.(?)" "p.(Asn918=)" "42" "" "" "0000268300" "00005456" "10" "3135" "0" "3135" "0" "c.3135C>T" "r.(?)" "p.(Gly1045=)" "47" "" "" "0000268301" "00005456" "70" "3159" "0" "3159" "0" "c.3159G>A" "r.(?)" "p.(Arg1053=)" "47" "" "" "0000268302" "00005456" "30" "3261" "0" "3261" "0" "c.3261C>A" "r.(?)" "p.(Gly1087=)" "48" "" "" "0000268303" "00005456" "30" "3268" "-9" "3268" "-9" "c.3268-9C>T" "r.(=)" "p.(=)" "48i" "" "" "0000268304" "00005456" "10" "3336" "0" "3336" "0" "c.3336C>T" "r.(?)" "p.(Tyr1112=)" "49" "" "" "0000268305" "00005456" "50" "3554" "0" "3554" "0" "c.3554G>A" "r.(?)" "p.(Gly1185Glu)" "50" "" "" "0000268306" "00005456" "10" "3712" "-13" "3712" "-13" "c.3712-13C>T" "r.(=)" "p.(=)" "50i" "" "" "0000268307" "00005456" "30" "3870" "0" "3870" "0" "c.3870C>T" "r.(?)" "p.(Val1290=)" "51" "" "" "0000268308" "00005456" "90" "568" "0" "568" "0" "c.568G>A" "r.(?)" "p.(Gly190Arg)" "12" "" "" "0000268309" "00005456" "90" "693" "6" "693" "6" "c.693+6T>G" "r.(=)" "p.(=)" "14i" "" "" "0000268310" "00005456" "10" "71" "-7" "71" "-7" "c.71-7dup" "r.(=)" "p.(=)" "1i" "" "" "0000268313" "00005456" "10" "808" "0" "808" "0" "c.808G>A" "r.(?)" "p.(Val270Ile)" "17" "" "" "0000268314" "00005456" "30" "81" "11" "81" "11" "c.81+11del" "r.(=)" "p.(=)" "2i" "" "" "0000268315" "00005456" "30" "81" "15" "81" "15" "c.81+15T>C" "r.(=)" "p.(=)" "2i" "" "" "0000268316" "00005456" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Gly280Ser)" "17" "" "" "0000268317" "00005456" "10" "87" "0" "87" "0" "c.87T>C" "r.(?)" "p.(Thr29=)" "3" "" "" "0000268318" "00005456" "10" "936" "14" "936" "14" "c.936+14C>T" "r.(=)" "p.(=)" "18i" "" "" "0000268319" "00005456" "90" "955" "0" "955" "0" "c.955G>A" "r.(?)" "p.(Gly319Arg)" "19" "" "" "0000268320" "00005456" "30" "969" "0" "969" "0" "c.969C>T" "r.(?)" "p.(Leu323=)" "19" "" "" "0000268321" "00005456" "90" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "" "" "0000273950" "00005456" "30" "226" "-6" "226" "-6" "c.226-6C>T" "r.(=)" "p.(=)" "5i" "" "" "0000273951" "00005456" "30" "226" "-9" "226" "-9" "c.226-9C>T" "r.(=)" "p.(=)" "5i" "" "" "0000273952" "00005456" "30" "2754" "0" "2754" "0" "c.2754C>T" "r.(?)" "p.(Asn918=)" "42" "" "" "0000338908" "00005456" "30" "71" "-17" "71" "-17" "c.71-17C>T" "r.(=)" "p.(=)" "1i" "" "" "0000338909" "00005456" "10" "936" "14" "936" "14" "c.936+14C>T" "r.(=)" "p.(=)" "18i" "" "" "0000338910" "00005456" "10" "937" "-3" "937" "-3" "c.937-3C>T" "r.spl?" "p.?" "18i" "" "" "0000338911" "00005456" "10" "1665" "15" "1665" "15" "c.1665+15A>G" "r.(=)" "p.(=)" "28i" "" "" "0000340568" "00005456" "10" "1446" "0" "1446" "0" "c.1446A>C" "r.(?)" "p.(Pro482=)" "25" "" "" "0000340569" "00005456" "10" "3135" "0" "3135" "0" "c.3135C>T" "r.(?)" "p.(Gly1045=)" "47" "" "" "0000345947" "00005456" "70" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Gly280Ser)" "17" "" "" "0000348499" "00005456" "10" "1645" "0" "1645" "0" "c.1645C>G" "r.(?)" "p.(Pro549Ala)" "28" "" "" "0000351444" "00005456" "10" "4295" "0" "4295" "0" "c.*194C>T" "r.(=)" "p.(=)" "52" "" "" "0000533077" "00005456" "10" "71" "-8" "71" "-7" "c.71-8_71-7dup" "r.(=)" "p.(=)" "1i" "" "" "0000533078" "00005456" "30" "432" "20" "432" "20" "c.432+20C>T" "r.(=)" "p.(=)" "9i" "" "" "0000533079" "00005456" "90" "578" "0" "578" "0" "c.578G>A" "r.(?)" "p.(Gly193Asp)" "12" "" "" "0000533080" "00005456" "10" "594" "5" "594" "5" "c.594+5A>T" "r.spl?" "p.?" "12i" "" "" "0000533081" "00005456" "10" "594" "5" "594" "5" "c.594+5A>T" "r.spl?" "p.?" "12i" "" "" "0000533082" "00005456" "30" "595" "-3" "595" "-3" "c.595-3T>A" "r.spl?" "p.?" "12i" "" "" "0000533083" "00005456" "50" "671" "0" "671" "0" "c.671G>A" "r.(?)" "p.(Arg224His)" "14" "" "" "0000533084" "00005456" "30" "679" "0" "679" "0" "c.679G>A" "r.(?)" "p.(Ala227Thr)" "14" "" "" "0000533085" "00005456" "30" "808" "0" "808" "0" "c.808G>A" "r.(?)" "p.(Val270Ile)" "17" "" "" "0000533086" "00005456" "30" "808" "0" "808" "0" "c.808G>A" "r.(?)" "p.(Val270Ile)" "17" "" "" "0000533087" "00005456" "50" "879" "0" "879" "0" "c.879C>G" "r.(?)" "p.(Pro293=)" "17" "" "" "0000533088" "00005456" "30" "892" "-13" "892" "-13" "c.892-13C>G" "r.(=)" "p.(=)" "17i" "" "" "0000533089" "00005456" "10" "937" "-3" "937" "-3" "c.937-3C>T" "r.spl?" "p.?" "18i" "" "" "0000533090" "00005456" "10" "937" "-3" "937" "-3" "c.937-3C>T" "r.spl?" "p.?" "18i" "" "" "0000533091" "00005456" "90" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Gly337Ser)" "19" "" "" "0000533092" "00005456" "30" "1252" "-6" "1252" "-6" "c.1252-6G>T" "r.(=)" "p.(=)" "22i" "" "" "0000533093" "00005456" "50" "1295" "0" "1295" "0" "c.1295G>A" "r.(?)" "p.(Arg432Gln)" "23" "" "" "0000533094" "00005456" "50" "1474" "0" "1474" "0" "c.1474A>G" "r.(?)" "p.(Ile492Val)" "25" "" "" "0000533095" "00005456" "30" "1521" "0" "1521" "0" "c.1521C>T" "r.(?)" "p.(Asn507=)" "26" "" "" "0000533096" "00005456" "90" "1764" "2" "1764" "2" "c.1764+2del" "r.spl?" "p.?" "30i" "" "" "0000533097" "00005456" "30" "1866" "0" "1866" "0" "c.1866T>C" "r.(?)" "p.(Gly622=)" "32" "" "" "0000533098" "00005456" "30" "2078" "0" "2078" "0" "c.2078G>A" "r.(?)" "p.(Arg693Gln)" "34" "" "" "0000533099" "00005456" "90" "2152" "0" "2152" "0" "c.2152G>T" "r.(?)" "p.(Gly718Cys)" "36" "" "" "0000533100" "00005456" "30" "2163" "0" "2163" "0" "c.2163C>T" "r.(?)" "p.(Gly721=)" "36" "" "" "0000533101" "00005456" "30" "2168" "0" "2168" "0" "c.2168A>T" "r.(?)" "p.(Asn723Ile)" "36" "" "" "0000533102" "00005456" "90" "2260" "0" "2260" "0" "c.2260G>A" "r.(?)" "p.(Gly754Ser)" "37" "" "" "0000533103" "00005456" "30" "2262" "0" "2262" "0" "c.2262T>C" "r.(?)" "p.(Gly754=)" "37" "" "" "0000533104" "00005456" "30" "2309" "0" "2309" "0" "c.2309C>T" "r.(?)" "p.(Pro770Leu)" "38" "" "" "0000533105" "00005456" "90" "2314" "0" "2314" "0" "c.2314G>A" "r.(?)" "p.(Gly772Ser)" "38" "" "" "0000533106" "00005456" "30" "2403" "10" "2403" "10" "c.2403+10T>C" "r.(=)" "p.(=)" "39i" "" "" "0000533107" "00005456" "90" "2414" "0" "2414" "0" "c.2414G>T" "r.(?)" "p.(Gly805Val)" "40" "" "" "0000533108" "00005456" "50" "2456" "0" "2456" "0" "c.2456G>A" "r.(?)" "p.(Arg819His)" "40" "" "" "0000533109" "00005456" "30" "2563" "0" "2563" "0" "c.2563G>A" "r.(?)" "p.(Ala855Thr)" "40" "" "" "0000533110" "00005456" "30" "2563" "0" "2563" "0" "c.2563G>A" "r.(?)" "p.(Ala855Thr)" "40" "" "" "0000533112" "00005456" "30" "2682" "0" "2682" "0" "c.2682T>A" "r.(?)" "p.(Pro894=)" "42" "" "" "0000533113" "00005456" "30" "2700" "0" "2700" "0" "c.2700C>T" "r.(?)" "p.(Ala900=)" "42" "" "" "0000533114" "00005456" "50" "2717" "0" "2717" "0" "c.2717G>A" "r.(?)" "p.(Arg906His)" "42" "" "" "0000533116" "00005456" "30" "3139" "0" "3139" "0" "c.3139G>A" "r.(?)" "p.(Val1047Met)" "47" "" "" "0000533117" "00005456" "50" "3200" "0" "3200" "0" "c.3200G>A" "r.(?)" "p.(Arg1067His)" "48" "" "" "0000533118" "00005456" "30" "3268" "-9" "3268" "-9" "c.3268-9C>T" "r.(=)" "p.(=)" "48i" "" "" "0000533119" "00005456" "50" "3368" "0" "3368" "0" "c.3368G>A" "r.(?)" "p.(Arg1123His)" "49" "" "" "0000533120" "00005456" "50" "3490" "0" "3490" "0" "c.3490C>T" "r.(?)" "p.(Arg1164Cys)" "49" "" "" "0000533121" "00005456" "50" "3853" "0" "3853" "0" "c.3853A>C" "r.(?)" "p.(Asn1285His)" "51" "" "" "0000533122" "00005456" "70" "3973" "0" "3973" "0" "c.3973G>T" "r.(?)" "p.(Gly1325Ter)" "52" "" "" "0000597679" "00005456" "70" "335" "0" "335" "0" "c.335G>T" "r.(?)" "p.(Gly112Val)" "8" "" "" "0000597682" "00005456" "70" "197" "0" "197" "0" "c.197G>A" "r.(?)" "p.(Gly66Asp)" "5" "" "" "0000597683" "00005456" "70" "197" "0" "197" "0" "c.197G>A" "r.(?)" "p.(Gly66Asp)" "5" "" "" "0000597688" "00005456" "70" "2755" "0" "2755" "0" "c.2755G>A" "r.(?)" "p.(Gly919Ser)" "42" "" "" "0000597689" "00005456" "70" "577" "0" "577" "0" "c.577G>A" "r.(?)" "p.(Gly193Ser)" "12" "" "" "0000597691" "00005456" "90" "432" "5" "432" "5" "c.432+5G>A" "r.spl?" "p.?" "9i" "" "" "0000597692" "00005456" "90" "432" "4" "432" "7" "c.432+4_432+7del" "r.spl?" "p.?" "9i" "" "" "0000611328" "00005456" "50" "880" "0" "880" "0" "c.880G>T" "r.(?)" "p.(Val294Phe)" "17" "" "" "0000611329" "00005456" "90" "1531" "0" "1531" "0" "c.1531G>A" "r.(?)" "p.(Gly511Ser)" "26" "" "" "0000611330" "00005456" "90" "2113" "0" "2121" "0" "c.2113_2121del" "r.(?)" "p.(Ala705_Pro707del)" "35" "" "" "0000611331" "00005456" "50" "2123" "0" "2123" "0" "c.2123G>A" "r.(?)" "p.(Arg708Gln)" "35" "" "" "0000611332" "00005456" "50" "3124" "0" "3124" "0" "c.3124G>C" "r.(?)" "p.(Gly1042Arg)" "47" "" "" "0000621954" "00005456" "30" "81" "10" "81" "10" "c.81+10A>G" "r.(=)" "p.(=)" "2i" "" "" "0000621955" "00005456" "10" "226" "-11" "226" "-11" "c.226-11dup" "r.(=)" "p.(=)" "5i" "" "" "0000621956" "00005456" "30" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(Pro102Ser)" "7" "" "" "0000621957" "00005456" "90" "3142" "0" "3142" "0" "c.3142G>T" "r.(?)" "p.(Gly1048Cys)" "47" "" "" "0000652373" "00005456" "70" "1135" "0" "1135" "0" "c.1135G>A" "r.(?)" "p.(Gly379Arg)" "21" "" "" "0000652374" "00005456" "70" "1694" "0" "1694" "0" "c.1694G>C" "r.(?)" "p.(Gly565Ala)" "29" "" "" "0000652375" "00005456" "50" "2957" "0" "2957" "0" "c.2957C>T" "r.(?)" "p.(Pro986Leu)" "45" "" "" "0000655924" "00005456" "10" "226" "-11" "226" "-11" "c.226-11del" "r.(=)" "p.(=)" "5i" "" "" "0000655925" "00005456" "30" "793" "-20" "793" "-20" "c.793-20G>T" "r.(=)" "p.(=)" "16i" "" "" "0000655926" "00005456" "70" "1163" "0" "1163" "0" "c.1163G>T" "r.(?)" "p.(Gly388Val)" "21" "" "" "0000655927" "00005456" "30" "1251" "21" "1251" "21" "c.1251+21T>G" "r.(=)" "p.(=)" "22i" "" "" "0000655928" "00005456" "30" "1689" "0" "1689" "0" "c.1689C>T" "r.(?)" "p.(Pro563=)" "29" "" "" "0000655929" "00005456" "30" "1719" "328" "1719" "328" "c.1719+328T>C" "r.(=)" "p.(=)" "29i" "" "" "0000655930" "00005456" "30" "1764" "116" "1764" "116" "c.1764+116G>A" "r.(=)" "p.(=)" "30i" "" "" "0000655931" "00005456" "50" "2425" "0" "2425" "0" "c.2425C>T" "r.(?)" "p.(Pro809Ser)" "40" "" "" "0000655932" "00005456" "50" "2569" "0" "2569" "0" "c.2569C>T" "r.(?)" "p.(Pro857Ser)" "41" "" "" "0000655933" "00005456" "30" "3954" "9" "3954" "9" "c.3954+9T>C" "r.(=)" "p.(=)" "51i" "" "" "0000655934" "00005456" "50" "4019" "0" "4019" "0" "c.4019C>A" "r.(?)" "p.(Pro1340His)" "52" "" "" "0000663949" "00005456" "99" "1000" "0" "1000" "0" "c.1000G>A" "r.(?)" "p.(Gly334Ser)" "19" "" "" "0000663950" "00005456" "55" "3883" "0" "3883" "0" "c.3883T>C" "r.(?)" "p.(Ser1295Pro)" "51" "missense" "" "0000663972" "00005456" "79" "713" "0" "713" "0" "c.713G>T" "r.(?)" "p.(Gly238Val)" "15" "" "" "0000663973" "00005456" "99" "1036" "-2" "1036" "-2" "c.1036-2A>C" "r.spl" "p.?" "19i" "" "" "0000663974" "00005456" "99" "1072" "0" "1072" "0" "c.1072G>A" "r.(?)" "p.(Gly358Ser)" "20" "" "" "0000663975" "00005456" "99" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Gly460Ser)" "24" "" "" "0000663976" "00005456" "99" "1486" "0" "1486" "0" "c.1486G>A" "r.(?)" "p.(Gly496Arg)" "25" "" "" "0000663977" "00005456" "99" "1586" "0" "1586" "0" "c.1586G>A" "r.(?)" "p.(Gly529Asp)" "27" "" "" "0000663978" "00005456" "79" "1754" "0" "1756" "0" "c.1754_1756dup" "r.(?)" "p.(Ala585dup)" "30" "" "" "0000663979" "00005456" "99" "1802" "0" "1802" "0" "c.1802G>T" "r.(?)" "p.(Gly601Val)" "31" "" "" "0000663980" "00005456" "99" "2098" "0" "2098" "0" "c.2098G>C" "r.(?)" "p.(Gly700Arg)" "35" "" "" "0000663981" "00005456" "99" "2108" "0" "2108" "0" "c.2108G>T" "r.(?)" "p.(Gly703Val)" "35" "" "" "0000663982" "00005456" "99" "2215" "0" "2215" "0" "c.2215G>A" "r.(?)" "p.(Gly739Arg)" "37" "" "" "0000663983" "00005456" "99" "2314" "0" "2314" "0" "c.2314G>A" "r.(?)" "p.(Gly772Ser)" "38" "" "" "0000663984" "00005456" "99" "2675" "0" "2675" "0" "c.2675G>A" "r.(?)" "p.(Gly892Asp)" "42" "" "" "0000663985" "00005456" "99" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Gly931Arg)" "43" "" "" "0000663986" "00005456" "99" "3034" "0" "3034" "0" "c.3034G>A" "r.(?)" "p.(Gly1012Ser)" "46" "" "" "0000663987" "00005456" "99" "3034" "0" "3034" "0" "c.3034G>A" "r.(?)" "p.(Gly1012Ser)" "46" "" "" "0000663988" "00005456" "99" "3034" "0" "3034" "0" "c.3034G>T" "r.(?)" "p.(Gly1012Cys)" "46" "" "" "0000663989" "00005456" "99" "3260" "0" "3260" "0" "c.3260G>T" "r.(?)" "p.(Gly1087Val)" "48" "" "" "0000663990" "00005456" "99" "3277" "0" "3277" "0" "c.3277G>C" "r.(?)" "p.(Gly1093Arg)" "49" "" "" "0000663991" "00005456" "99" "3305" "0" "3305" "0" "c.3305G>T" "r.(?)" "p.(Gly1102Val)" "49" "" "" "0000664435" "00005456" "90" "478" "0" "478" "0" "c.478G>A" "r.(?)" "p.(Gly160Arg)" "10" "" "" "0000664436" "00005456" "90" "568" "0" "568" "0" "c.568G>C" "r.(?)" "p.(Gly190Arg)" "12" "" "" "0000664437" "00005456" "90" "875" "0" "875" "0" "c.875G>A" "r.(?)" "p.(Gly292Asp)" "17" "" "" "0000664438" "00005456" "90" "1586" "0" "1586" "0" "c.1586G>A" "r.(?)" "p.(Gly529Asp)" "27" "" "" "0000664439" "00005456" "90" "1748" "0" "1748" "0" "c.1748G>C" "r.(?)" "p.(Gly583Ala)" "30" "" "" "0000664440" "00005456" "90" "2324" "0" "2324" "0" "c.2324G>A" "r.(?)" "p.(Gly775Glu)" "38" "" "" "0000664441" "00005456" "90" "2330" "0" "2330" "0" "c.2330G>A" "r.(?)" "p.(Arg777His)" "38" "" "" "0000664442" "00005456" "90" "2341" "0" "2341" "0" "c.2341G>A" "r.(?)" "p.(Gly781Ser)" "38" "" "" "0000664443" "00005456" "90" "3814" "0" "3814" "0" "c.3814T>C" "r.(?)" "p.(Cys1272Arg)" "51" "" "" "0000664484" "00005456" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Gly280Ser)" "17" "" "" "0000664485" "00005456" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Gly280Ser)" "17" "" "" "0000664486" "00005456" "90" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "" "" "0000664487" "00005456" "90" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "" "" "0000664488" "00005456" "90" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Gly337Ser)" "19" "" "" "0000664489" "00005456" "99" "1072" "0" "1072" "0" "c.1072G>A" "r.(?)" "p.(Gly358Ser)" "20" "missense" "Gly268Ser" "0000664490" "00005456" "90" "1197" "5" "1197" "5" "c.1197+5G>A" "r.spl" "p.?" "21i" "" "" "0000664491" "00005456" "90" "2197" "0" "2197" "0" "c.2197G>T" "r.(?)" "p.(Gly733Cys)" "37" "" "" "0000664492" "00005456" "90" "2242" "0" "2242" "0" "c.2242G>A" "r.(?)" "p.(Gly748Ser)" "37" "" "" "0000664493" "00005456" "90" "2296" "0" "2296" "0" "c.2296G>A" "r.spl?" "p.(Gly766Ser)" "38" "" "" "0000664494" "00005456" "90" "2387" "0" "2387" "0" "c.2387G>C" "r.(?)" "p.(Gly796Ala)" "39" "" "" "0000664495" "00005456" "90" "2413" "0" "2413" "0" "c.2413G>C" "r.(?)" "p.(Gly805Arg)" "40" "" "" "0000664496" "00005456" "90" "2485" "0" "2485" "0" "c.2485G>A" "r.(?)" "p.(Gly829Ser)" "40" "" "" "0000664497" "00005456" "90" "2565" "1" "2565" "1" "c.2565+1G>A" "r.spl" "p.?" "40i" "" "" "0000664498" "00005456" "90" "2565" "1" "2565" "1" "c.2565+1G>A" "r.spl" "p.?" "40i" "" "" "0000664499" "00005456" "90" "2918" "0" "2918" "0" "c.2918G>A" "r.(?)" "p.(Gly973Asp)" "44" "" "" "0000664500" "00005456" "90" "3034" "0" "3034" "0" "c.3034G>A" "r.(?)" "p.(Gly1012Ser)" "46" "" "" "0000664501" "00005456" "90" "3034" "0" "3034" "0" "c.3034G>A" "r.(?)" "p.(Gly1012Ser)" "46" "" "" "0000664502" "00005456" "90" "3305" "0" "3305" "0" "c.3305G>C" "r.(?)" "p.(Gly1102Ala)" "49" "" "" "0000664515" "00005456" "90" "0" "" "0" "" "[NM_181678.2:c.-48-58227]::c.869del" "r.?" "p.?" "17" "" "" "0000673883" "00005456" "70" "1613" "0" "1613" "0" "c.1613G>A" "r.(?)" "p.(Gly538Asp)" "28" "" "" "0000678225" "00005456" "70" "1667" "0" "1667" "0" "c.1667G>T" "r.(?)" "p.(Gly556Val)" "29" "" "" "0000678226" "00005456" "30" "2566" "-6" "2566" "-6" "c.2566-6A>G" "r.(=)" "p.(=)" "40i" "" "" "0000690104" "00005456" "30" "679" "0" "679" "0" "c.679G>A" "r.(?)" "p.(Ala227Thr)" "14" "" "" "0000690105" "00005456" "30" "892" "-6" "892" "-6" "c.892-6T>G" "r.(=)" "p.(=)" "17i" "" "" "0000690106" "00005456" "30" "1089" "0" "1089" "0" "c.1089C>T" "r.(?)" "p.(Pro363=)" "20" "" "" "0000690107" "00005456" "30" "1764" "10" "1764" "10" "c.1764+10A>G" "r.(=)" "p.(=)" "30i" "" "" "0000690108" "00005456" "30" "2565" "409" "2565" "409" "c.2565+409T>C" "r.(=)" "p.(=)" "40i" "" "" "0000690109" "00005456" "90" "2674" "0" "2674" "0" "c.2674G>C" "r.(?)" "p.(Gly892Arg)" "42" "" "" "0000704182" "00005456" "70" "1863" "2" "1863" "2" "c.1863+2T>G" "r.spl" "p.?" "31i" "" "" "0000706967" "00005456" "99" "0" "0" "0" "0" "c.-471_(936+1_937-1){0}" "r.0?" "p.0?" "_1_18i" "deletion, multi exon" "" "0000706968" "00005456" "97" "12" "0" "12" "0" "c.12T>G" "r.(?)" "p.(Phe4Leu)" "1" "missense" "" "0000706969" "00005456" "99" "70" "717" "70" "717" "c.70+717A>G" "r.(?)" "p.?" "1i" "other/complex" "" "0000706970" "00005456" "11" "87" "0" "87" "0" "c.87T>C" "r.(?)" "p.(=)" "3" "silent" "" "0000706971" "00005456" "97" "110" "0" "110" "0" "c.110A>G" "r.(?)" "p.(Asp37Gly)" "4" "missense" "" "0000706972" "00005456" "33" "118" "0" "118" "0" "c.118C>A" "r.(?)" "p.(Pro40Thr)" "4" "missense" "" "0000706973" "00005456" "99" "133" "0" "133" "0" "c.133G>T" "r.(?)" "p.(Gly45Cys)" "5" "missense" "" "0000706974" "00005456" "97" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Ser)" "5" "missense" "" "0000706975" "00005456" "99" "226" "-22" "226" "-11" "c.226-22_226-11del" "r.spl" "p.?" "5i" "splicing affected?" "" "0000706976" "00005456" "99" "226" "-17" "279" "12" "c.226-17_279+12del" "r.spl" "p.(Asn76_Met93del)" "5i_6i" "deletion, exon" "" "0000706977" "00005456" "99" "226" "-2" "226" "-2" "c.226-2A>G" "r.spl" "p.?" "5i" "splicing affected?" "" "0000706978" "00005456" "99" "226" "-2" "226" "-2" "c.226-2A>G" "r.spl" "p.?" "5i" "splicing affected?" "" "0000706979" "00005456" "99" "226" "-2" "226" "-2" "c.226-2A>G" "r.spl" "p.?" "5i" "splicing affected?" "" "0000706980" "00005456" "99" "226" "-1" "226" "-1" "c.226-1G>A" "r.spl" "p.?" "5i" "splicing affected?" "" "0000706981" "00005456" "99" "226" "-1" "226" "-1" "c.226-1G>C" "r.spl" "p.?" "5i" "splicing affected?" "" "0000706982" "00005456" "11" "246" "0" "246" "0" "c.246T>C" "r.(?)" "p.(=)" "6" "silent" "" "0000706983" "00005456" "99" "279" "0" "279" "0" "c.279G>A" "r.(?)" "p.(Met93Ile)" "6" "splicing affected?" "Met3Ile" "0000706984" "00005456" "99" "279" "0" "279" "0" "c.279G>A" "r.(?)" "p.(Met93Ile)" "6" "splicing affected?" "Met3Ile" "0000706985" "00005456" "99" "279" "1" "279" "1" "c.279+1G>A" "r.spl" "p.?" "6i" "splicing affected?" "" "0000706986" "00005456" "99" "279" "1" "279" "1" "c.279+1G>A" "r.spl" "p.?" "6i" "splicing affected?" "" "0000706987" "00005456" "99" "279" "1" "279" "1" "c.279+1G>A" "r.spl" "p.?" "6i" "splicing affected?" "" "0000706988" "00005456" "99" "279" "1" "279" "1" "c.279+1G>A" "r.spl" "p.?" "6i" "splicing affected?" "" "0000706989" "00005456" "99" "279" "1" "279" "1" "c.279+1G>A" "r.spl" "p.?" "6i" "splicing affected?" "" "0000706990" "00005456" "99" "279" "1" "279" "1" "c.279+1G>A" "r.spl" "p.?" "6i" "splicing affected?" "" "0000706991" "00005456" "99" "279" "1" "279" "1" "c.279+1G>C" "r.spl" "p.?" "6i" "splicing affected?" "" "0000706992" "00005456" "99" "279" "1" "279" "1" "c.279+1G>T" "r.spl" "p.?" "6i" "splicing affected?" "" "0000706993" "00005456" "99" "279" "1" "279" "1" "c.279+1G>T" "r.spl" "p.?" "6i" "splicing affected?" "" "0000706994" "00005456" "99" "279" "1" "279" "1" "c.279+1G>T" "r.spl" "p.?" "6i" "splicing affected?" "" "0000706995" "00005456" "99" "279" "1" "279" "1" "c.279+1G>T" "r.spl" "p.?" "6i" "splicing affected?" "" "0000706996" "00005456" "99" "279" "1" "279" "1" "c.279+1G>T" "r.spl" "p.?" "6i" "splicing affected?" "" "0000706997" "00005456" "99" "279" "2" "279" "2" "c.279+2T>C" "r.spl" "p.?" "6i" "splicing affected?" "" "0000706998" "00005456" "99" "279" "2" "279" "2" "c.279+2T>C" "r.spl" "p.?" "6i" "splicing affected?" "" "0000706999" "00005456" "99" "279" "2" "279" "2" "c.279+2T>C" "r.spl" "p.?" "6i" "splicing affected?" "" "0000707000" "00005456" "99" "279" "2" "279" "2" "c.279+2T>C" "r.spl" "p.?" "6i" "splicing affected?" "" "0000707001" "00005456" "99" "279" "2" "279" "2" "c.279+2T>G" "r.spl" "p.?" "6i" "splicing affected?" "" "0000707002" "00005456" "99" "280" "-1149" "540" "63" "c.280-1149_540+63del" "r.?" "p.(Gly94_Arg180del)" "6i_11i" "deletion, multi exon" "" "0000707003" "00005456" "51" "287" "0" "287" "0" "c.287T>A" "r.(?)" "p.(Met96Lys)" "7" "missense" "" "0000707004" "00005456" "99" "293" "0" "293" "0" "c.293dup" "r.(?)" "p.(Arg99*)" "7" "frameshift" "" "0000707005" "00005456" "53" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(Pro102Ser)" "7" "missense" "Pro12Ser" "0000707006" "00005456" "13" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(Pro102Ser)" "7" "missense" "Pro12Ser" "0000707007" "00005456" "99" "316" "0" "316" "0" "c.316G>A" "r.(?)" "p.(Gly106Arg)" "7" "missense" "" "0000707008" "00005456" "99" "324" "4" "324" "4" "c.324+4del" "r.spl?" "p.?" "7i" "splicing affected?" "" "0000707009" "00005456" "99" "326" "0" "326" "0" "c.326G>A" "r.(?)" "p.(Gly109Asp)" "8" "missense" "Gly19Asp" "0000707010" "00005456" "99" "326" "0" "326" "0" "c.326G>A" "r.(?)" "p.(Gly109Asp)" "8" "missense" "Gly19Asp" "0000707011" "00005456" "79" "326" "0" "326" "0" "c.326G>T" "r.(?)" "p.(Gly109Val)" "8" "missense" "" "0000707012" "00005456" "99" "335" "0" "335" "0" "c.335G>A" "r.(?)" "p.(Gly112Asp)" "8" "missense" "Gly22Asp" "0000707013" "00005456" "99" "335" "0" "335" "0" "c.335G>T" "r.(?)" "p.(Gly112Val)" "8" "missense" "Gly22Val" "0000707014" "00005456" "99" "335" "0" "335" "0" "c.335G>T" "r.(?)" "p.(Gly112Val)" "8" "missense" "Gly22Val" "0000707015" "00005456" "99" "335" "0" "335" "0" "c.335G>T" "r.(?)" "p.(Gly112Val)" "8" "missense" "Gly22Val" "0000707016" "00005456" "99" "335" "0" "335" "0" "c.335G>T" "r.(?)" "p.(Gly112Val)" "8" "missense" "Gly22Val" "0000707017" "00005456" "99" "343" "0" "343" "0" "c.343G>A" "r.(?)" "p.(Gly115Arg)" "8" "missense" "Gly25Arg" "0000707018" "00005456" "99" "353" "0" "353" "0" "c.353G>A" "r.(?)" "p.(Gly118Asp)" "8" "missense" "Gly28Asp" "0000707019" "00005456" "99" "353" "0" "353" "0" "c.353G>T" "r.(?)" "p.(Gly118Val)" "8" "missense" "" "0000707020" "00005456" "99" "362" "0" "362" "0" "c.362G>A" "r.(?)" "p.(Gly121Asp)" "8" "missense" "Gly31Asp" "0000707021" "00005456" "99" "371" "0" "371" "0" "c.371G>A" "r.(?)" "p.(Gly124Asp)" "8" "missense" "Gly34Asp" "0000707022" "00005456" "99" "371" "0" "371" "0" "c.371G>A" "r.(?)" "p.(Gly124Asp)" "8" "missense" "Gly34Asp" "0000707023" "00005456" "99" "371" "0" "371" "0" "c.371G>A" "r.(?)" "p.(Gly124Asp)" "8" "missense" "Gly34Asp" "0000707024" "00005456" "99" "380" "0" "380" "0" "c.380G>A" "r.(?)" "p.(Gly127Asp)" "9" "missense" "Gly37Asp" "0000707025" "00005456" "99" "380" "0" "380" "0" "c.380G>A" "r.(?)" "p.(Gly127Asp)" "9" "missense" "Gly37Asp" "0000707026" "00005456" "99" "389" "0" "389" "0" "c.389G>A" "r.(?)" "p.(Gly130Asp)" "9" "missense" "Gly40Asp" "0000707027" "00005456" "99" "397" "0" "397" "0" "c.397G>A" "r.(?)" "p.(Gly133Ser)" "9" "missense" "Gly43Ser" "0000707028" "00005456" "79" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Gly136Asp)" "9" "missense" "Gly46Asp" "0000707029" "00005456" "99" "416" "0" "416" "0" "c.416G>T" "r.(?)" "p.(Gly139Val)" "9" "missense" "Gly49Val" "0000707030" "00005456" "99" "432" "1" "432" "1" "c.432+1G>A" "r.spl" "p.?" "9i" "splicing affected?" "" "0000707031" "00005456" "99" "432" "1" "432" "1" "c.432+1G>A" "r.spl" "p.?" "9i" "splicing affected?" "" "0000707032" "00005456" "99" "432" "1" "432" "1" "c.432+1G>C" "r.spl" "p.?" "9i" "splicing affected?" "" "0000707033" "00005456" "99" "432" "3" "432" "13" "c.432+3_432+13del" "r.spl?" "p.?" "9i" "splicing affected?" "" "0000707034" "00005456" "99" "432" "4" "432" "7" "c.432+4_432+7del" "r.spl?" "p.?" "9i" "splicing affected?" "" "0000707035" "00005456" "99" "432" "4" "432" "7" "c.432+4_432+7del" "r.spl?" "p.?" "9i" "splicing affected?" "" "0000707036" "00005456" "99" "432" "5" "432" "5" "c.432+5G>A" "r.spl?" "p.?" "9i" "splicing affected?" "" "0000707037" "00005456" "99" "432" "5" "432" "5" "c.432+5G>A" "r.spl?" "p.?" "9i" "splicing affected?" "" "0000707038" "00005456" "99" "432" "59" "891" "7" "c.432+59_891+7del" "r.spl" "p.(Gly145_Pro297del)" "9i_17i" "deletion, multi exon" "" "0000707039" "00005456" "99" "433" "-2" "433" "-2" "c.433-2A>G" "r.spl" "p.?" "9i" "splicing affected?" "" "0000707040" "00005456" "99" "433" "-1" "433" "-1" "c.433-1G>C" "r.spl" "p.?" "9i" "splicing affected?" "" "0000707041" "00005456" "99" "433" "-1" "433" "-1" "c.433-1G>C" "r.spl" "p.?" "9i" "splicing affected?" "" "0000707042" "00005456" "99" "451" "0" "451" "0" "c.451G>A" "r.(?)" "p.(Gly151Arg)" "10" "missense" "Gly61Arg" "0000707043" "00005456" "95" "478" "0" "478" "0" "c.478G>A" "r.(?)" "p.(Gly160Arg)" "10" "missense" "Gly70Arg" "0000707044" "00005456" "99" "486" "1" "486" "1" "c.486+1G>C" "r.spl" "p.?" "10i" "splicing affected?" "" "0000707045" "00005456" "79" "486" "2" "486" "2" "c.486+2T>G" "r.spl" "p.?" "10i" "splicing affected?" "" "0000707046" "00005456" "99" "487" "-5" "500" "0" "c.487-5_500del" "r.spl" "p.?" "10i_11" "splicing affected?" "" "0000707047" "00005456" "99" "497" "0" "497" "0" "c.497G>T" "r.(?)" "p.(Gly166Val)" "11" "missense" "Gly76Val" "0000707048" "00005456" "99" "497" "0" "497" "0" "c.497G>T" "r.(?)" "p.(Gly166Val)" "11" "missense" "Gly76Val" "0000707049" "00005456" "99" "497" "0" "497" "0" "c.497G>T" "r.(?)" "p.(Gly166Val)" "11" "missense" "Gly76Val" "0000707050" "00005456" "99" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Gly169Glu)" "11" "missense" "Gly79Glu" "0000707051" "00005456" "99" "540" "5" "540" "5" "c.540+5G>A" "r.spl?" "p.?" "11i" "splicing affected?" "" "0000707052" "00005456" "95" "541" "-2" "541" "-2" "c.541-2del" "r.spl" "p.?" "11i" "splicing affected?" "" "0000707053" "00005456" "99" "544" "0" "544" "0" "c.544C>G" "r.(?)" "p.(His182Asp)" "12" "missense" "His92Asp" "0000707054" "00005456" "99" "560" "0" "560" "0" "c.560G>A" "r.(?)" "p.(Gly187Glu)" "12" "missense" "Gly97Glu" "0000707055" "00005456" "99" "560" "0" "560" "0" "c.560G>A" "r.(?)" "p.(Gly187Glu)" "12" "missense" "Gly97Glu" "0000707056" "00005456" "95" "560" "0" "560" "0" "c.560G>A" "r.(?)" "p.(Gly187Glu)" "12" "missense" "Gly97Glu" "0000707057" "00005456" "95" "560" "0" "560" "0" "c.560G>T" "r.(?)" "p.(Gly187Val)" "12" "missense" "Gly97Val" "0000707058" "00005456" "99" "560" "0" "560" "0" "c.560G>T" "r.(?)" "p.(Gly187Val)" "12" "missense" "p.(Gly97Val)" "0000707059" "00005456" "95" "568" "0" "568" "0" "c.568G>C" "r.(?)" "p.(Gly190Arg)" "12" "missense" "Gly100Arg" "0000707060" "00005456" "99" "569" "0" "569" "0" "c.569G>A" "r.(?)" "p.(Gly190Glu)" "12" "missense" "Gly100Glu" "0000707061" "00005456" "95" "569" "0" "569" "0" "c.569G>A" "r.(?)" "p.(Gly190Glu)" "12" "missense" "Gly100Glu" "0000707062" "00005456" "99" "569" "0" "569" "0" "c.569G>C" "r.(?)" "p.(Gly190Ala)" "12" "missense" "Gly100Ala" "0000707063" "00005456" "99" "569" "0" "569" "0" "c.569G>T" "r.(?)" "p.(Gly190Val)" "12" "missense" "Gly100Val" "0000707064" "00005456" "99" "569" "0" "569" "0" "c.569G>T" "r.(?)" "p.(Gly190Val)" "12" "missense" "Gly100Val" "0000707065" "00005456" "99" "577" "0" "577" "0" "c.577G>A" "r.(?)" "p.(Gly193Ser)" "12" "missense" "Gly103Ser" "0000707066" "00005456" "99" "577" "0" "577" "0" "c.577G>A" "r.(?)" "p.(Gly193Ser)" "12" "missense" "Gly103Ser" "0000707067" "00005456" "99" "577" "0" "577" "0" "c.577G>A" "r.(?)" "p.(Gly193Ser)" "12" "missense" "Gly103Ser" "0000707068" "00005456" "99" "577" "0" "577" "0" "c.577G>A" "r.(?)" "p.(Gly193Ser)" "12" "missense" "Gly103Ser" "0000707069" "00005456" "99" "577" "0" "577" "0" "c.577G>A" "r.(?)" "p.(Gly193Ser)" "12" "missense" "Gly103Ser" "0000707070" "00005456" "99" "577" "0" "577" "0" "c.577G>A" "r.(?)" "p.(Gly193Ser)" "12" "missense" "Gly103Ser" "0000707071" "00005456" "99" "577" "0" "577" "0" "c.577G>A" "r.(?)" "p.(Gly193Ser)" "12" "missense" "Gly103Ser" "0000707072" "00005456" "99" "577" "0" "577" "0" "c.577G>A" "r.(?)" "p.(Gly193Ser)" "12" "missense" "Gly103Ser" "0000707073" "00005456" "99" "577" "0" "577" "0" "c.577G>A" "r.(?)" "p.(Gly193Ser)" "12" "missense" "Gly103Ser" "0000707074" "00005456" "99" "577" "0" "577" "0" "c.577G>A" "r.(?)" "p.(Gly193Ser)" "12" "missense" "Gly103Ser" "0000707075" "00005456" "99" "577" "0" "577" "0" "c.577G>A" "r.(?)" "p.(Gly193Ser)" "12" "missense" "Gly103Ser" "0000707076" "00005456" "99" "577" "0" "577" "0" "c.577G>A" "r.(?)" "p.(Gly193Ser)" "12" "missense" "Gly103Ser" "0000707077" "00005456" "99" "577" "0" "577" "0" "c.577G>A" "r.(?)" "p.(Gly193Ser)" "12" "missense" "Gly103Ser" "0000707078" "00005456" "99" "577" "0" "577" "0" "c.577G>A" "r.(?)" "p.(Gly193Ser)" "12" "missense" "Gly103Ser" "0000707079" "00005456" "99" "577" "0" "577" "0" "c.577G>A" "r.(?)" "p.(Gly193Ser)" "12" "missense" "Gly103Ser" "0000707080" "00005456" "99" "577" "0" "577" "0" "c.577G>A" "r.(?)" "p.(Gly193Ser)" "12" "missense" "Gly103Ser" "0000707081" "00005456" "99" "577" "0" "577" "0" "c.577G>A" "r.(?)" "p.(Gly193Ser)" "12" "missense" "Gly103Ser" "0000707082" "00005456" "99" "577" "0" "577" "0" "c.577G>A" "r.(?)" "p.(Gly193Ser)" "12" "missense" "Gly103Ser" "0000707083" "00005456" "99" "577" "0" "577" "0" "c.577G>C" "r.(?)" "p.(Gly193Arg)" "12" "missense" "Gly103Arg" "0000707084" "00005456" "95" "577" "0" "577" "0" "c.577G>T" "r.(?)" "p.(Gly193Cys)" "12" "missense" "p.(Gly103Cys)" "0000707085" "00005456" "99" "578" "0" "578" "0" "c.578G>A" "r.(?)" "p.(Gly193Asp)" "12" "missense" "Gly103Asp" "0000707086" "00005456" "95" "578" "0" "578" "0" "c.578G>A" "r.(?)" "p.(Gly193Asp)" "12" "missense" "Gly103Asp" "0000707087" "00005456" "99" "578" "0" "578" "0" "c.578G>T" "r.(?)" "p.(Gly193Val)" "12" "missense" "Gly103Val" "0000707088" "00005456" "99" "578" "0" "578" "0" "c.578G>T" "r.(?)" "p.(Gly193Val)" "12" "missense" "Gly103Val" "0000707089" "00005456" "51" "582" "0" "582" "0" "c.582T>G" "r.(?)" "p.(=)" "12" "silent" "" "0000707090" "00005456" "99" "586" "0" "586" "0" "c.586G>T" "r.(?)" "p.(Gly196Cys)" "12" "missense" "Gly109Cys" "0000707091" "00005456" "99" "587" "0" "587" "0" "c.587G>A" "r.(?)" "p.(Gly196Asp)" "12" "missense" "Gly106Asp" "0000707092" "00005456" "99" "587" "0" "587" "0" "c.587G>A" "r.(?)" "p.(Gly196Asp)" "12" "missense" "Gly106Asp" "0000707093" "00005456" "99" "587" "0" "587" "0" "c.587G>T" "r.(?)" "p.(Gly196Val)" "12" "missense" "Gly106Val" "0000707094" "00005456" "99" "594" "1" "594" "19" "c.594+1_594+19del" "r.spl" "p.?" "12i" "splicing affected?" "" "0000707095" "00005456" "99" "594" "2" "594" "2" "c.594+2T>G" "r.spl" "p.?" "12i" "splicing affected?" "" "0000707096" "00005456" "99" "595" "-3" "595" "-3" "c.595-3T>A" "r.spl?" "p.?" "12i" "splicing affected?" "" "0000707097" "00005456" "99" "595" "-2" "595" "-2" "c.595-2A>G" "r.spl" "p.?" "12i" "splicing affected?" "" "0000707098" "00005456" "99" "595" "-2" "595" "-2" "c.595-2A>G" "r.spl" "p.?" "12i" "splicing affected?" "" "0000707099" "00005456" "99" "595" "-23" "693" "12" "c.(594+59_595-23)_(693+12_694-47)del" "r.?" "p.?" "12i_14i" "deletion, multi exon" "" "0000707100" "00005456" "99" "595" "0" "595" "0" "c.595G>C" "r.(?)" "P.Gly199Arg)" "13" "missense" "Gly109arg" "0000707101" "00005456" "99" "596" "0" "596" "0" "c.596G>A" "r.(?)" "p.(Gly199Asp)" "13" "missense" "Gly109Asp" "0000707102" "00005456" "99" "596" "0" "596" "0" "c.596G>T" "r.(?)" "p.(Gly199Val)" "13" "missense" "Gly109Val" "0000707103" "00005456" "95" "596" "0" "596" "0" "c.596G>T" "r.(?)" "p.(Gly199Val)" "13" "missense" "Gly109Val" "0000707104" "00005456" "99" "604" "0" "604" "0" "c.604G>C" "r.(?)" "p.(Gly202Arg)" "13" "missense" "Gly112Arg" "0000707105" "00005456" "99" "604" "0" "604" "0" "c.604G>C" "r.(?)" "p.(Gly202Arg)" "13" "missense" "Gly112Arg" "0000707106" "00005456" "99" "604" "0" "604" "0" "c.604G>C" "r.(?)" "p.(Gly202Arg)" "13" "missense" "Gly112Arg" "0000707107" "00005456" "79" "604" "0" "604" "0" "c.604G>C" "r.(?)" "p.(Gly202Arg)" "13" "missense" "Gly112Arg" "0000707108" "00005456" "99" "604" "0" "604" "0" "c.604G>C" "r.(?)" "p.(Gly202Arg)" "13" "missense" "Gly112Arg" "0000707109" "00005456" "99" "605" "0" "605" "0" "c.605G>A" "r.(?)" "p.(Gly202Asp)" "13" "missense" "Gly112Asp" "0000707110" "00005456" "99" "605" "0" "605" "0" "c.605G>A" "r.(?)" "p.(Gly202Asp)" "13" "missense" "Gly112Asp" "0000707111" "00005456" "99" "605" "0" "605" "0" "c.605G>A" "r.(?)" "p.(Gly202Asp)" "13" "missense" "Gly112Asp" "0000707112" "00005456" "99" "623" "0" "623" "0" "c.623G>A" "r.(?)" "p.(Gly208Glu)" "13" "missense" "Gly118Glu+Gly145Asp" "0000707113" "00005456" "99" "632" "0" "632" "0" "c.632G>A" "r.(?)" "p.(Gly211Asp)" "13" "missense" "Gly121Asp" "0000707114" "00005456" "99" "632" "0" "632" "0" "c.632G>A" "r.(?)" "p.(Gly211Asp)" "13" "missense" "Gly121Asp" "0000707115" "00005456" "99" "632" "0" "632" "0" "c.632G>T" "r.(?)" "p.(Gly211Val)" "13" "missense" "Gly121Val" "0000707116" "00005456" "99" "639" "4" "639" "22" "c.639+4_639+22del" "r.spl" "p.?" "13i" "splicing affected?" "" "0000707117" "00005456" "55" "639" "5" "639" "25" "c.639+5_639+25del" "r.(595_639del)" "p.(Gly199_Thr213del)" "13i" "splicing affected?" "" "0000707118" "00005456" "99" "604" "0" "604" "0" "c.604G>A" "r.(?)" "p.(Gly202Ser)" "13" "missense" "Gly112Ser" "0000707119" "00005456" "99" "650" "0" "650" "0" "c.650G>A" "r.(?)" "p.(Gly217Glu)" "14" "missense" "Gly127Glu" "0000707120" "00005456" "99" "650" "0" "650" "0" "c.650G>T" "r.(?)" "p.(Gly217Val)" "14" "missense" "Gly127Val" "0000707121" "00005456" "99" "659" "0" "659" "0" "c.659G>A" "r.(?)" "p.(Gly220Asp)" "14" "missense" "Gly130Asp" "0000707122" "00005456" "33" "671" "0" "671" "0" "c.671G>A" "r.(?)" "p.(Arg224His)" "14" "missense" "" "0000707123" "00005456" "99" "693" "1" "693" "1" "c.693+1G>A" "r.spl" "p.?" "14i" "splicing affected?" "" "0000707124" "00005456" "99" "693" "1" "693" "1" "c.693+1G>A" "r.spl" "p.?" "14i" "splicing affected?" "" "0000707125" "00005456" "99" "693" "1" "693" "1" "c.693+1G>A" "r.spl" "p.?" "14i" "splicing affected?" "" "0000707126" "00005456" "99" "693" "1" "693" "1" "c.693+1G>C" "r.spl" "p.?" "14i" "splicing affected?" "" "0000707127" "00005456" "95" "693" "1" "693" "1" "c.693+1G>C" "r.spl" "p.?" "14i" "splicing affected?" "" "0000707128" "00005456" "99" "693" "1" "693" "1" "c.693+1G>T" "r.spl" "p.?" "14i" "splicing affected?" "" "0000707129" "00005456" "99" "693" "2" "693" "2" "c.693+2T>A" "r.spl" "p.?" "14i" "splicing affected?" "" "0000707130" "00005456" "99" "693" "2" "693" "2" "c.693+2T>C" "r.spl" "p.?" "14i" "splicing affected?" "" "0000707131" "00005456" "99" "693" "2" "693" "2" "c.693+2T>C" "r.spl" "p.?" "14i" "splicing affected?" "" "0000707132" "00005456" "79" "693" "3" "693" "3" "c.693+3del" "r.spl?" "p.?" "14i" "splicing affected?" "" "0000707133" "00005456" "99" "693" "5" "693" "5" "c.693+5G>A" "r.spl?" "p.?" "14i" "splicing affected?" "" "0000707134" "00005456" "99" "694" "-2" "694" "-2" "c.694-2A>C" "r.spl" "p.?" "14i" "splicing affected?" "" "0000707135" "00005456" "99" "694" "-2" "694" "-2" "c.694-2A>G" "r.spl" "p.?" "14i" "splicing affected?" "" "0000707136" "00005456" "55" "700" "0" "700" "0" "c.700C>T" "r.(?)" "p.(Arg234Cys)" "15" "missense" "Arg144Cys" "0000707137" "00005456" "99" "739" "-2" "739" "-2" "c.739-2A>G" "r.spl" "p.?" "15i" "splicing affected?" "" "0000707138" "00005456" "95" "739" "-2" "739" "-2" "c.739-2A>G" "r.spl" "p.?" "15i" "splicing affected?" "" "0000707139" "00005456" "95" "739" "-2" "739" "-2" "c.739-2A>G" "r.spl" "p.?" "15i" "splicing affected?" "" "0000707140" "00005456" "97" "739" "-1" "739" "-1" "c.739-1G>C" "r.spl" "p.?" "15i" "splicing affected?" "" "0000707141" "00005456" "93" "792" "0" "792" "0" "c.792G>C" "r.spl" "p.(Lys264Asn)" "16" "missense" "Lys174Asn" "0000707142" "00005456" "99" "739" "0" "739" "0" "c.739G>C" "r.(?)" "p.(Gly247Arg)" "16" "missense" "Gly157Arg" "0000707143" "00005456" "99" "739" "0" "739" "0" "c.739G>C" "r.(?)" "p.(Gly247Arg)" "16" "missense" "Gly157Arg" "0000707144" "00005456" "99" "740" "0" "740" "0" "c.740G>A" "r.(?)" 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"16i" "splicing affected?" "" "0000707170" "00005456" "95" "792" "3" "792" "3" "c.792+3A>T" "r.(739_792del)" "p.(Gly247_Lys264del)" "16i" "splicing affected?" "Gly157_Lys174del" "0000707171" "00005456" "99" "793" "0" "793" "0" "c.793G>C" "r.(?)" "p.(Gly265Arg)" "17" "missense" "Gly175Arg" "0000707172" "00005456" "99" "793" "0" "793" "0" "c.793G>C" "r.(?)" "p.(Gly265Arg)" "17" "missense" "Gly175Arg" "0000707173" "00005456" "99" "793" "0" "793" "0" "c.793G>C" "r.(?)" "p.(Gly265Arg)" "17" "missense" "Gly175Arg" "0000707174" "00005456" "99" "794" "0" "794" "0" "c.794G>A" "r.(?)" "p.(Gly265Asp)" "17" "missense" "Gly175Asp" "0000707175" "00005456" "99" "794" "0" "794" "0" "c.794G>A" "r.(?)" "p.(Gly265Asp)" "17" "missense" "Gly175Asp" "0000707176" "00005456" "99" "794" "0" "794" "0" "c.794G>A" "r.(?)" "p.(Gly265Asp)" "17" "missense" "Gly175Asp" "0000707177" "00005456" "99" "794" "0" "794" "0" "c.794G>A" "r.(?)" 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"p.(Gly274Cys)" "17" "missense" "Gly184Cys" "0000707195" "00005456" "99" "821" "0" "821" "0" "c.821G>A" "r.(?)" "p.(Gly274Asp)" "17" "missense" "Gly184Asp" "0000707196" "00005456" "99" "821" "0" "821" "0" "c.821G>A" "r.(?)" "p.(Gly274Asp)" "17" "missense" "Gly184Asp" "0000707197" "00005456" "99" "821" "0" "821" "0" "c.821G>A" "r.(?)" "p.(Gly274Asp)" "17" "missense" "Gly184Asp" "0000707198" "00005456" "99" "821" "0" "821" "0" "c.821G>T" "r.(?)" "p.(Gly274Val)" "17" "missense" "Gly184Val" "0000707199" "00005456" "99" "825" "0" "833" "0" "c.825_833dup" "r.(?)" "p.(Ala279_Pro281dup)" "17" "duplication" "" "0000707200" "00005456" "99" "829" "0" "829" "0" "c.829G>C" "r.(?)" "p.(Gly277Arg)" "17" "missense" "Gly187Arg" "0000707201" "00005456" "99" "829" "0" "829" "0" "c.829G>C" "r.(?)" "p.(Gly277Arg)" "17" "missense" "Gly187Arg" "0000707202" "00005456" "95" "829" "0" "829" "0" "c.829G>C" "r.(?)" 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"p.(=)" "17i" "other/complex" "" "0000707260" "00005456" "95" "892" "0" "892" "0" "c.892G>A" "r.(?)" "p.(Gly298Ser)" "18" "missense" "Gly208Ser" "0000707261" "00005456" "99" "892" "0" "892" "0" "c.892G>C" "r.(?)" "p.(Gly298Arg)" "18" "missense" "Gly208Arg" "0000707262" "00005456" "99" "892" "0" "892" "0" "c.892G>T" "r.(?)" "p.(Gly298Cys)" "18" "missense" "Gly208Cys" "0000707263" "00005456" "99" "901" "0" "901" "0" "c.901G>A" "r.(?)" "p.(Gly301Arg)" "18" "missense" "Gly211Arg" "0000707264" "00005456" "99" "910" "0" "910" "0" "c.910G>A" "r.(?)" "p.(Gly304Ser)" "18" "missense" "Gly214Ser" "0000707265" "00005456" "99" "910" "0" "910" "0" "c.910G>A" "r.(?)" "p.(Gly304Ser)" "18" "missense" "Gly214Ser" "0000707266" "00005456" "99" "910" "0" "910" "0" "c.910G>A" "r.(?)" "p.(Gly304Ser)" "18" "missense" "Gly214Ser" "0000707267" "00005456" "99" "910" "0" "910" "0" "c.910G>A" "r.(?)" "p.(Gly304Ser)" "18" "missense" "Gly214Ser" "0000707268" "00005456" "99" "910" "0" "910" "0" "c.910G>A" "r.(?)" 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"p.(Gly316Ser)" "19" "missense" "Gly226Ser" "0000707278" "00005456" "99" "946" "0" "946" "0" "c.946G>A" "r.(?)" "p.(Gly316Ser)" "19" "missense" "Gly226Ser" "0000707279" "00005456" "99" "946" "0" "946" "0" "c.946G>A" "r.(?)" "p.(Gly316Ser)" "19" "missense" "Gly226Ser" "0000707280" "00005456" "99" "946" "0" "946" "0" "c.946G>A" "r.(?)" "p.(Gly316Ser)" "19" "missense" "Gly226Ser" "0000707281" "00005456" "99" "946" "0" "946" "0" "c.946G>C" "r.(?)" "p.(Gly316Arg)" "19" "missense" "Gly226Arg" "0000707282" "00005456" "99" "946" "0" "946" "0" "c.946G>T" "r.(?)" "p.(Gly316Cys)" "19" "missense" "Gly326Cys" "0000707283" "00005456" "51" "948" "0" "948" "0" "c.948C>T" "r.(?)" "p.(=)" "19" "silent" "" "0000707284" "00005456" "51" "948" "0" "948" "0" "c.948C>T" "r.(?)" "p.(=)" "19" "silent" "" "0000707285" "00005456" "99" "955" "0" "955" "0" "c.955G>A" "r.(?)" "p.(Gly319Arg)" "19" "missense" "Gly229Arg" "0000707286" "00005456" "99" "955" "0" "955" "0" "c.955G>T" "r.(?)" "p.(Gly319Trp)" "19" "missense" "Gly229Trp" "0000707287" "00005456" "95" "962" "0" "979" "0" "c.962_979dup" "r.(?)" "p.(Pro321_Pro326dup)" "19" "insertion" "" "0000707288" "00005456" "99" "964" "0" "964" "0" "c.964G>A" "r.(?)" "p.(Gly322Ser)" "19" "missense" "Gly232Ser" "0000707289" "00005456" "99" "964" "0" "964" "0" "c.964G>A" "r.(?)" "p.(Gly322Ser)" "19" "missense" "Gly232Ser" "0000707290" "00005456" "59" "964" "0" "964" "0" "c.964G>A" "r.(?)" "p.(Gly322Ser)" "19" "missense" "Gly232Ser" "0000707291" "00005456" "99" "964" "0" "964" "0" "c.964G>A" "r.(?)" "p.(Gly322Ser)" "19" "missense" "Gly232Ser" "0000707292" "00005456" "99" "974" "0" "974" "0" "c.974G>A" "r.(?)" "p.(Gly325Glu)" "19" "missense" "Gly235Glu" "0000707293" "00005456" "99" "974" "0" "974" "0" "c.974G>A" "r.(?)" "p.(Gly325Glu)" "19" "missense" "Gly235Glu" "0000707294" "00005456" "11" "975" "0" "975" "0" "c.975A>T" "r.(?)" "p.(=)" "19" "silent" "" "0000707295" "00005456" "99" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707296" "00005456" "99" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707297" "00005456" "99" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707298" "00005456" "99" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707299" "00005456" "99" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707300" "00005456" "99" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707301" "00005456" "99" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707302" "00005456" "99" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707303" "00005456" "99" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707304" "00005456" "99" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707305" "00005456" "99" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707306" "00005456" "99" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707307" "00005456" "99" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707308" "00005456" "99" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707309" "00005456" "99" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707310" "00005456" "99" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707311" "00005456" "99" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707312" "00005456" "99" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707313" "00005456" "99" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707314" "00005456" "99" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707315" "00005456" "99" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707316" "00005456" "99" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707317" "00005456" "99" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707318" "00005456" "99" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707319" "00005456" "99" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707320" "00005456" "99" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707321" "00005456" "99" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707322" "00005456" "99" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707323" "00005456" "99" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707324" "00005456" "99" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707325" "00005456" "99" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707326" "00005456" "99" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707327" "00005456" "99" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707328" "00005456" "99" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707329" "00005456" "99" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707330" "00005456" "99" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707331" "00005456" "99" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707332" "00005456" "99" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707333" "00005456" "59" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707334" "00005456" "59" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707335" "00005456" "59" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707336" "00005456" "59" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707337" "00005456" "99" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707338" "00005456" "99" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707339" "00005456" "99" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707340" "00005456" "99" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707341" "00005456" "95" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707342" "00005456" "95" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707343" "00005456" "95" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707344" "00005456" "95" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707345" "00005456" "95" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707346" "00005456" "95" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707347" "00005456" "95" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707348" "00005456" "95" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "missense" "Gly238Ser" "0000707349" "00005456" "99" "982" "0" "982" "0" "c.982G>T" "r.(?)" "p.(Gly328Cys)" "19" "missense" "Gly238Cys" "0000707350" "00005456" "95" "982" "0" "982" "0" "c.982G>T" "r.(?)" "p.(Gly328Cys)" "19" "missense" "Gly238Cys" "0000707351" "00005456" "99" "983" "0" "983" "0" "c.983G>A" "r.(?)" "p.(Gly328Asp)" "19" "missense" "Gly238Asp" "0000707352" "00005456" "99" "983" "0" "983" "0" "c.983G>T" "r.(?)" "p.(Gly328Val)" "19" "missense" "Gly238Val" "0000707353" "00005456" "99" "992" "0" "992" "0" "c.992G>A" "r.(?)" "p.(Gly331Asp)" "19" "missense" "Gly241Asp" "0000707354" "00005456" "99" "992" "0" "992" "0" "c.992G>T" "r.(?)" "p.(Gly331Val)" "19" "missense" "Gly241Val" "0000707355" "00005456" "99" "1000" "0" "1000" "0" "c.1000G>A" "r.(?)" "p.(Gly334Ser)" "19" "missense" "Gly244Ser" "0000707356" "00005456" "99" "1000" "0" "1000" "0" "c.1000G>A" "r.(?)" "p.(Gly334Ser)" "19" "missense" "Gly244Ser" "0000707357" "00005456" "99" "1000" "0" "1000" "0" "c.1000G>A" "r.(?)" "p.(Gly334Ser)" "19" "missense" "Gly244Ser" "0000707358" "00005456" "95" "1000" "0" "1000" "0" "c.1000G>A" "r.(?)" "p.(Gly334Ser)" "19" "missense" "Gly244Ser" "0000707359" "00005456" "99" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Gly337Ser)" "19" "missense" "Gly247Ser" "0000707360" "00005456" "99" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Gly337Ser)" "19" "missense" "Gly247Ser" "0000707361" "00005456" "99" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Gly337Ser)" "19" "missense" "Gly247Ser" "0000707362" "00005456" "99" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Gly337Ser)" "19" "missense" "Gly247Ser" "0000707363" "00005456" "99" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Gly337Ser)" "19" "missense" "Gly247Ser" "0000707364" "00005456" "99" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Gly337Ser)" "19" "missense" "Gly247Ser" "0000707365" "00005456" "99" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Gly337Ser)" "19" "missense" "Gly247Ser" "0000707366" "00005456" "99" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Gly337Ser)" "19" "missense" "Gly247Ser" "0000707367" "00005456" "99" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Gly337Ser)" "19" "missense" "Gly247Ser" "0000707368" "00005456" "99" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Gly337Ser)" "19" "missense" "Gly247Ser" "0000707369" "00005456" "99" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Gly337Ser)" "19" "missense" "Gly247Ser" "0000707370" "00005456" "99" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Gly337Ser)" "19" "missense" "Gly247Ser" "0000707371" "00005456" "99" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Gly337Ser)" "19" "missense" "Gly247Ser" "0000707372" "00005456" "99" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Gly337Ser)" "19" "missense" "Gly247Ser" "0000707373" "00005456" "99" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Gly337Ser)" "19" "missense" "Gly247Ser" "0000707374" "00005456" "99" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Gly337Ser)" "19" "missense" "Gly247Ser" "0000707375" "00005456" "99" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Gly337Ser)" "19" "missense" "Gly247Ser" "0000707376" "00005456" "99" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Gly337Ser)" "19" "missense" "Gly247Ser" "0000707377" "00005456" "99" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Gly337Ser)" "19" "missense" "Gly247Ser" "0000707378" "00005456" "59" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Gly337Ser)" "19" "missense" "Gly247Ser" "0000707379" "00005456" "99" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Gly337Ser)" "19" "missense" "Gly247Ser" "0000707380" "00005456" "99" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Gly337Ser)" "19" "missense" "Gly247Ser" "0000707381" "00005456" "99" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Gly337Ser)" "19" "missense" "Gly247Ser" "0000707382" "00005456" "99" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Gly337Ser)" "19" "missense" "Gly247Ser" "0000707383" "00005456" "99" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Gly337Ser)" "19" "missense" "Gly247Ser" "0000707384" "00005456" "99" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Gly337Ser)" "19" "missense" "Gly247Ser" "0000707385" "00005456" "99" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Gly337Ser)" "19" "missense" "Gly247Ser" "0000707386" "00005456" "99" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Gly337Ser)" "19" "missense" "Gly247Ser" "0000707387" "00005456" "99" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Gly337Ser)" "19" "missense" "Gly247Ser" "0000707388" "00005456" "99" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Gly337Ser)" "19" "missense" "Gly247Ser" "0000707389" "00005456" "99" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Gly337Ser)" "19" "missense" "Gly247Ser" "0000707390" "00005456" "99" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Gly337Ser)" "19" "missense" "Gly247Ser" "0000707391" "00005456" "95" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" 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"" "0000707422" "00005456" "99" "1035" "199" "1090" "-4" "c.1035+199_1090-4del" "r.spl" "p.(Gly346_Pro363del)" "19i_20i" "deletion, exon" "" "0000707423" "00005456" "99" "1036" "-2" "1036" "-2" "c.1036-2A>C" "r.spl" "p.?" "19i" "splicing affected?" "" "0000707424" "00005456" "99" "1036" "-1" "1036" "-1" "c.1036-1G>C" "r.spl" "p.?" "19i" "splicing affected?" "" "0000707425" "00005456" "99" "1036" "-1" "1036" "-1" "c.1036-1G>C" "r.spl" "p.?" "19i" "splicing affected?" "" "0000707426" "00005456" "99" "1036" "-1" "1036" "-1" "c.1036-1G>C" "r.spl" "p.?" "19i" "splicing affected?" "" "0000707427" "00005456" "99" "1090" "0" "1090" "0" "c.1090G>T" "r.(?)" "p.(Gly364Cys)" "21" "missense" "Gly274Cys" "0000707428" "00005456" "99" "1036" "0" "1036" "0" "c.1036G>A" "r.(?)" "p.(Gly346Ser)" "20" "missense" "Gly256Ser" "0000707429" "00005456" "99" "1036" "0" "1036" "0" "c.1036G>A" "r.(?)" 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"p.(Gly358Ser)" "20" "missense" "Gly268Ser" "0000707438" "00005456" "99" "1072" "0" "1072" "0" "c.1072G>A" "r.(?)" "p.(Gly358Ser)" "20" "missense" "Gly268Ser" "0000707439" "00005456" "99" "1072" "0" "1072" "0" "c.1072G>A" "r.(?)" "p.(Gly358Ser)" "20" "missense" "Gly268Ser" "0000707440" "00005456" "99" "1072" "0" "1072" "0" "c.1072G>A" "r.(?)" "p.(Gly358Ser)" "20" "missense" "Gly268Ser" "0000707441" "00005456" "99" "1072" "0" "1072" "0" "c.1072G>A" "r.(?)" "p.(Gly358Ser)" "20" "missense" "Gly268Ser" "0000707442" "00005456" "99" "1072" "0" "1072" "0" "c.1072G>A" "r.(?)" "p.(Gly358Ser)" "20" "missense" "Gly268Ser" "0000707443" "00005456" "99" "1072" "0" "1072" "0" "c.1072G>A" "r.(?)" "p.(Gly358Ser)" "20" "missense" "Gly268Ser" "0000707444" "00005456" "95" "1072" "0" "1072" "0" "c.1072G>A" "r.(?)" "p.(Gly358Ser)" "20" "missense" "Gly268Ser" "0000707445" "00005456" "99" "1072" "0" "1072" "0" "c.1072G>A" "r.(?)" 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"p.(Gly376Asp)" "21" "missense" "Gly286Asp" "0000707462" "00005456" "99" "1127" "0" "1127" "0" "c.1127G>A" "r.(?)" "p.(Gly376Asp)" "21" "missense" "Gly286Asp" "0000707463" "00005456" "99" "1127" "0" "1127" "0" "c.1127G>A" "r.(?)" "p.(Gly376Asp)" "21" "missense" "Gly286Asp" "0000707464" "00005456" "99" "1127" "0" "1127" "0" "c.1127G>T" "r.(?)" "p.(Gly376Val)" "21" "missense" "Gly286Val" "0000707465" "00005456" "99" "1135" "0" "1135" "0" "c.1135G>A" "r.(?)" "p.(Gly379Arg)" "21" "missense" "Gly201Arg" "0000707466" "00005456" "95" "1135" "0" "1135" "0" "c.1135G>A" "r.(?)" "p.(Gly379Arg)" "21" "missense" "Gly201Arg" "0000707467" "00005456" "99" "1144" "0" "1144" "0" "c.1144G>A" "r.(?)" "p.(Gly382Ser)" "21" "missense" "Gly292Ser" "0000707468" "00005456" "99" "1144" "0" "1144" "0" "c.1144G>A" "r.(?)" "p.(Gly382Ser)" "21" "missense" "Gly292Ser" "0000707469" "00005456" "99" "1153" "0" "1153" "0" "c.1153G>A" "r.(?)" "p.(Gly385Arg)" "21" "missense" "Gly295Arg" "0000707470" "00005456" "99" "1154" "0" "1154" "0" "c.1154G>A" "r.(?)" "p.(Gly385Glu )" "21" "missense" "Gly295Glu" "0000707471" "00005456" "99" "1162" "0" "1162" "0" "c.1162G>C" "r.(?)" "p.(Gly388Arg)" "21" "missense" "Gly298Arg" "0000707472" "00005456" "99" "1163" "0" "1163" "0" "c.1163G>T" "r.(?)" "p.(Gly388Val)" "21" "missense" "Gly298Val" "0000707473" "00005456" "99" "1163" "0" "1163" "0" "c.1163G>T" "r.(?)" "p.(Gly388Val)" "21" "missense" "Gly298Val" "0000707474" "00005456" "99" "1163" "0" "1163" "0" "c.1163G>T" "r.(?)" "p.(Gly388Val)" "21" "missense" "Gly298Val" "0000707475" "00005456" "99" "1163" "0" "1163" "0" "c.1163G>T" "r.(?)" "p.(Gly388Val)" "21" "missense" "Gly298Val" "0000707476" "00005456" "99" "1171" "0" "1171" "0" "c.1171G>A" "r.(?)" "p.(Gly391Ser)" "21" "missense" "Gly301Ser" "0000707477" "00005456" "99" "1171" "0" "1171" "0" "c.1171G>A" "r.(?)" "p.(Gly391Ser)" "21" "missense" "Gly301Ser" "0000707478" "00005456" "99" "1171" "0" "1171" "0" "c.1171G>A" "r.(?)" "p.(Gly391Ser)" "21" "missense" "Gly301Ser" "0000707479" "00005456" "99" "1171" "0" "1171" "0" "c.1171G>A" "r.(?)" "p.(Gly391Ser)" "21" "missense" "Gly301Ser" "0000707480" "00005456" "99" "1171" "0" "1171" "0" "c.1171G>A" "r.(?)" "p.(Gly391Ser)" "21" "missense" "Gly301Ser" "0000707481" "00005456" "99" "1171" "0" "1171" "0" "c.1171G>A" "r.(?)" "p.(Gly391Ser)" "21" "missense" "Gly301Ser" "0000707482" "00005456" "99" "1171" "0" "1171" "0" "c.1171G>T" "r.(?)" "p.(Gly391Cys)" "21" "missense" "Gly301Cys" "0000707483" "00005456" "99" "1189" "0" "1189" "0" "c.1189G>C" "r.(?)" "p.(Gly397Arg)" "21" "missense" "Gly307Arg" "0000707484" "00005456" "99" "1190" "0" "1190" "0" "c.1190G>A" "r.(?)" "p.(Gly397Glu)" "21" "missense" "Gly307Glu" "0000707485" "00005456" "99" "1197" "2" "1197" "40" "c.1197+2_1197+40del" "r.spl" "p.?" "21i" "splicing affected?" "" "0000707486" "00005456" "99" "1197" "5" "1197" "5" "c.1197+5G>A" "r.spl" "p.?" "21i" "splicing affected?" "" "0000707487" "00005456" "99" "1197" "5" "1197" "5" "c.1197+5G>A" "r.spl" "p.?" "21i" "splicing affected?" "" "0000707488" "00005456" "99" "1197" "5" "1197" "5" "c.1197+5G>A" "r.spl" "p.?" "21i" "splicing affected?" "" "0000707489" "00005456" "99" "1197" "5" "1197" "5" "c.1197+5G>A" "r.spl" "p.?" "21i" "splicing affected?" "" "0000707490" "00005456" "99" "1197" "5" "1197" "5" "c.1197+5G>A" "r.spl" "p.?" "21i" "splicing affected?" "" "0000707491" "00005456" "99" "1197" "5" "1197" "5" "c.1197+5G>A" "r.spl" "p.?" "21i" "splicing affected?" "" "0000707492" "00005456" "95" "1197" "5" "1197" "5" "c.1197+5G>A" "r.spl" "p.?" "21i" "splicing affected?" "" "0000707493" "00005456" "95" "1197" "5" "1197" "5" "c.1197+5G>A" "r.spl" "p.?" "21i" "splicing affected?" "" "0000707494" "00005456" "99" "1197" "5" "1197" "5" "c.1197+5G>C" "r.spl" "p.?" "21i" "splicing affected?" "" "0000707495" "00005456" "59" "1197" "5" "1197" "5" "c.1197+5G>T" "r.spl" "p.?" "21i" "splicing affected?" "" "0000707496" "00005456" "99" "1198" "0" "1198" "0" "c.1198G>C" "r.(?)" "p.(Gly400Arg)" "22" "missense" "Gly310Arg" "0000707497" "00005456" "99" "1199" "0" "1199" "0" "c.1199G>A" "r.(?)" "p.(Gly400Asp)" "22" "missense" "" "0000707498" "00005456" "99" "1207" "0" "1207" "0" "c.1207G>C" "r.(?)" "p.(Gly403Arg)" "22" "missense" "" "0000707499" "00005456" "99" "1207" "0" "1207" "0" "c.1207G>T" "r.(?)" "p.(Gly403Cys)" "22" "missense" "p.Gly313Cys" "0000707500" "00005456" "99" "1216" "0" "1216" "0" "c.1216G>A" "r.(?)" "p.(Gly406Ser)" "22" "missense" "Gly316Ser" "0000707501" "00005456" "75" "1220" "0" "1220" "0" "c.1220T>C" "r.(?)" "p.(Leu407Pro)" "22" "missense" "Leu317Pro" "0000707502" "00005456" "99" "1226" "0" "1226" "0" "c.1226G>T" "r.(?)" "p.(Gly409Val)" "22" "missense" "Gly319Val" "0000707503" "00005456" "99" "1226" "0" "1227" "0" "c.1226_1227delinsTT" "r.(?)" "p.(Gly409Val)" "22" "missense" "Gly319Val" "0000707504" "00005456" "99" "1252" "0" "1252" "0" "c.1252G>A" "r.spl?" "p.(Gly418Ser )" "23" "missense" "Gly328Ser" "0000707505" "00005456" "99" "1253" "0" "1253" "0" "c.1253G>A" "r.(?)" "p.(Gly418Asp)" "23" "missense" "Gly328Asp" "0000707506" "00005456" "99" "1261" "0" "1261" "0" "c.1261G>A" "r.(?)" "p.(Gly421Ser)" "23" "missense" "Gly331Ser" "0000707509" "00005456" "13" "1268" "0" "1268" "0" "c.1268G>A" "r.(?)" "p.(Arg423His)" "23" "missense" "" "0000707510" "00005456" "11" "1268" "0" "1268" "0" "c.1268G>A" "r.(?)" "p.(Arg423His)" "23" "missense" "" "0000707511" "00005456" "95" "1268" "0" "1268" "0" "c.1268G>A" "r.(?)" "p.(Arg423His)" "23" "missense" "" "0000707512" "00005456" "99" "1270" "0" "1270" "0" "c.1270G>A" "r.(?)" "p.(Gly424Ser)" "23" "missense" "Gly334Ser" "0000707513" "00005456" "99" "1271" "0" "1271" "0" "c.1271G>A" "r.(?)" "p.(Gly424Asp)" "23" "missense" "Gly334Asp" "0000707514" "00005456" "99" "1271" "0" "1271" "0" "c.1271G>T" "r.(?)" "p.(Gly424Val)" "23" "missense" "Gly334Val" "0000707515" "00005456" "99" "1271" "0" "1271" "0" "c.1271G>T" "r.(?)" "p.(Gly424Val)" "23" "missense" "Gly334Val" "0000707516" "00005456" "99" "1279" "0" "1279" "0" "c.1279G>A" "r.(?)" "p.(Gly427Ser)" "23" "missense" "Gly337Ser" "0000707517" "00005456" "99" "1279" "0" "1279" "0" "c.1279G>A" "r.(?)" "p.(Gly427Ser)" "23" "missense" "Gly337Ser" "0000707518" "00005456" "99" "1279" "0" "1279" "0" "c.1279G>A" "r.(?)" "p.(Gly427Ser)" "23" "missense" "Gly337Ser" "0000707519" "00005456" "99" "1298" "0" "1298" "0" "c.1298G>A" "r.(?)" "p.(Gly433Glu)" "23" "missense" "Gly343Glu" "0000707520" "00005456" "99" "1298" "0" "1298" "0" "c.1298G>A" "r.(?)" "p.(Gly433Glu)" "23" "missense" "Gly343Glu" "0000707521" "00005456" "99" "1298" "0" "1298" "0" "c.1298G>A" "r.(?)" "p.(Gly433Glu)" "23" "missense" "Gly343Glu" "0000707522" "00005456" "99" "1310" "0" "1312" "0" "c.1310_1312dup" "r.(?)" "p.(Asp437dup)" "23" "duplication" "Asp347dup" "0000707523" "00005456" "79" "1315" "0" "1315" "0" "c.1315G>C" "r.(?)" "p.(Gly439Arg)" "23" "missense" "Gly349Arg" "0000707524" "00005456" "99" "1316" "0" "1316" "0" "c.1316G>A" "r.(?)" "p.(Gly439Asp)" "23" "missense" "Gly349Asp" "0000707525" "00005456" "99" "1324" "0" "1324" "0" "c.1324G>A" "r.(?)" "p.(Gly442Arg)" "23" "missense" "Gly352Arg" "0000707526" "00005456" "99" "1325" "0" "1325" "0" "c.1325G>A" "r.(?)" "p.(Gly442Glu)" "23" "missense" "Gly352Glu" "0000707527" "00005456" "99" "1333" "0" "1333" "0" "c.1333G>C" "r.(?)" "p.(Gly445Arg )" "23" "missense" "Gly355Arg" "0000707528" "00005456" "99" "1343" "0" "1343" "0" "c.1343G>A" "r.(?)" "p.(Gly448Glu)" "23" "missense" "Gly358Glu" "0000707529" "00005456" "99" "1351" "0" "1351" "0" "c.1351G>A" "r.spl?" "p.(Gly451Ser)" "24" "missense" "Gly361Ser" "0000707530" "00005456" "99" "1360" "0" "1360" "0" "c.1360G>T" "r.(?)" "p.(Gly454Cys)" "24" "missense" "Gly364Cys" "0000707531" "00005456" "99" "1360" "0" "1360" "0" "c.1360G>T" "r.(?)" "p.(Gly454Cys)" "24" "missense" "Gly364Cys" "0000707532" "00005456" "99" "1360" "0" "1360" "0" "c.1360G>T" "r.(?)" "p.(Gly454Cys)" "24" "missense" "Gly364Cys" "0000707533" "00005456" "99" "1361" "0" "1361" "0" "c.1361G>C" "r.(?)" "p.(Gly454Ala )" "24" "missense" "Gly364Ala" "0000707534" "00005456" "99" "1361" "0" "1361" "0" "c.1361G>T" "r.(?)" "p.(Gly454Val)" "24" "missense" "Gly364Val" "0000707535" "00005456" "99" "1369" "0" "1370" "0" "c.1369_1370delinsCT" "r.(?)" "p.(Gly457Leu)" "24" "missense" "Gly367Leu" "0000707536" "00005456" "99" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Gly460Ser)" "24" "missense" "Gly370Ser" "0000707537" "00005456" "99" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Gly460Ser)" "24" "missense" "Gly370Ser" "0000707538" "00005456" "99" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Gly460Ser)" "24" "missense" "Gly370Ser" "0000707539" "00005456" "99" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Gly460Ser)" "24" "missense" "Gly370Ser" "0000707540" "00005456" "99" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Gly460Ser)" "24" "missense" "Gly370Ser" "0000707541" "00005456" "99" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Gly460Ser)" "24" "missense" "Gly370Ser" "0000707542" "00005456" "99" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Gly460Ser)" "24" "missense" "Gly370Ser" "0000707543" "00005456" "99" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Gly460Ser)" "24" "missense" "Gly370Ser" "0000707544" "00005456" "99" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Gly460Ser)" "24" "missense" "Gly370Ser" "0000707545" "00005456" "99" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Gly460Ser)" "24" "missense" "Gly370Ser" "0000707546" "00005456" "99" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Gly460Ser)" "24" "missense" "Gly370Ser" "0000707547" "00005456" "99" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Gly460Ser)" "24" "missense" "Gly370Ser" "0000707548" "00005456" "99" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Gly460Ser)" "24" "missense" "Gly370Ser" "0000707549" "00005456" "99" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Gly460Ser)" "24" "missense" "Gly370Ser" "0000707550" "00005456" "99" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Gly460Ser)" "24" "missense" "Gly370Ser" "0000707551" "00005456" "99" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Gly460Ser)" "24" "missense" "Gly370Ser" "0000707552" "00005456" "99" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Gly460Ser)" "24" "missense" "Gly370Ser" "0000707553" "00005456" "99" "1380" "0" "1397" "0" "c.1380_1397del" "r.(?)" "p.(Pro461_Gly466del)" "24" "deletion" "Pro371_Gly376del" "0000707554" "00005456" "99" "1404" "1" "1404" "1" "c.1404+1G>A" "r.spl" "p.?" "24i" "splicing affected?" "" "0000707555" "00005456" "99" "1404" "1" "1404" "1" "c.1404+1G>C" "r.spl" "p.?" "24i" "splicing affected?" "" "0000707556" "00005456" "99" "1406" "0" "1406" "0" "c.1406G>C" "r.(?)" "p.(Gly469Ala)" "25" "missense" "Gly379Ala" "0000707557" "00005456" "99" "1406" "0" "1406" "0" "c.1406G>C" "r.(?)" "p.(Gly469Ala)" "25" "missense" "Gly379Ala" "0000707558" "00005456" "99" "1406" "0" "1406" "0" "c.1406G>C" "r.(?)" "p.(Gly469Ala)" "25" "missense" "Gly379Ala" "0000707559" "00005456" "95" "1406" "0" "1406" "0" "c.1406G>C" "r.(?)" "p.(Gly469Ala)" "25" "missense" "Gly379Ala" "0000707560" "00005456" "99" "1406" "0" "1406" "0" "c.1406G>T" "r.(?)" "p.(Gly469Val)" "25" "missense" "Gly379Val" "0000707561" "00005456" "99" "1433" "0" "1433" "0" "c.1433G>A" "r.(?)" "p.(Gly478Asp)" "25" "missense" "Gly388Asp" "0000707562" "00005456" "99" "1433" "0" "1433" "0" "c.1433G>A" "r.(?)" "p.(Gly478Asp)" "25" "missense" "Gly388Asp" "0000707563" "00005456" "99" "1433" "0" "1433" "0" "c.1433G>T" "r.(?)" "p.(Gly478Val)" "25" "missense" "Gly388Val" "0000707564" "00005456" "99" "1441" "0" "1441" "0" "c.1441G>A" "r.(?)" "p.(Gly481Ser)" "25" "missense" "Gly391Ser" "0000707565" "00005456" "11" "1446" "0" "1446" "0" "c.1446A>C" "r.(?)" "p.(=)" "25" "silent" "" "0000707566" "00005456" "11" "1446" "0" "1446" "0" "c.1446A>C" "r.(?)" "p.(=)" "25" "silent" "" "0000707567" "00005456" "11" "1446" "0" "1446" "0" "c.1446A>C" "r.(?)" "p.(=)" "25" "silent" "" "0000707568" "00005456" "51" "1448" "0" "1448" "0" "c.1448C>T" "r.(?)" "p.(Ala483Val)" "25" "missense" "" "0000707569" "00005456" "99" "1451" "0" "1451" "0" "c.1451G>A" "r.(?)" "p.(Gly484Glu)" "25" "missense" "Gly394Glu" "0000707570" "00005456" "99" "1451" "0" "1451" "0" "c.1451G>A" "r.(?)" "p.(Gly484Glu)" "25" "missense" "Gly394Glu" "0000707571" "00005456" "99" "1451" "0" "1451" "0" "c.1451G>A" "r.(?)" "p.(Gly484Glu)" "25" "missense" "Gly394Glu" "0000707572" "00005456" "99" "1451" "0" "1451" "0" "c.1451G>T" "r.(?)" "p.(Gly484Val)" "25" "missense" "Gly394Val" "0000707573" "00005456" "99" "1460" "0" "1460" "0" "c.1460G>A" "r.(?)" "p.(Gly487Glu)" "25" "missense" "Gly397Glu" "0000707574" "00005456" "99" "1469" "0" "1470" "0" "c.1469_1470delinsAG" "r.(?)" "p.(Gly490Glu)" "25" "missense" "Gly400Glu" "0000707575" "00005456" "99" "1478" "0" "1478" "0" "c.1478G>A" "r.(?)" "p.(Gly493Glu)" "25" "missense" "Gly403Glu" "0000707576" "00005456" "99" "1478" "0" "1478" "0" "c.1478G>T" "r.(?)" "p.(Gly493Val)" "25" "missense" "Gly403Val" "0000707577" "00005456" "95" "1480" "0" "1488" "0" "c.1480_1488dup" "r.(?)" "p.(Phe494_Gly496dup)" "25" "insertion" "" "0000707578" "00005456" "99" "1487" "0" "1487" "0" "c.1487G>C" "r.(?)" "p.(Gly496Ala)" "25" "missense" "Gly406Ala" "0000707579" "00005456" "99" "1496" "0" "1496" "0" "c.1496G>T" "r.(?)" "p.(Gly499Val)" "25" "missense" "Gly409Val" "0000707580" "00005456" "97" "1503" "11" "1503" "11" "c.1503+11C>T" "r.(?)" "p.(=)" "25i" "splicing affected?" "" "0000707581" "00005456" "99" "1504" "-1" "1504" "-1" "c.1504-1G>C" "r.spl" "p.?" "25i" "splicing affected?" "" "0000707582" "00005456" "99" "1504" "-1" "1504" "-1" "c.1504-1G>C" "r.spl" "p.?" "25i" "splicing affected?" "" "0000707583" "00005456" "51" "1509" "0" "1509" "0" "c.1509T>C" "r.(?)" "p.(=)" "26" "silent" "" "0000707584" "00005456" "99" "1523" "0" "1523" "0" "c.1523G>A" "r.(?)" "p.(Gly508Asp)" "26" "missense" "Gly418Asp" "0000707585" "00005456" "95" "1523" "0" "1523" "0" "c.1523G>T" "r.(?)" "p.(Gly508Val)" "26" "missense" "Gly418Val" "0000707586" "00005456" "99" "1531" "0" "1531" "0" "c.1531G>A" "r.(?)" "p.(Gly511Ser)" "26" "missense" "Gly421Ser" "0000707587" "00005456" "99" "1531" "0" "1531" "0" "c.1531G>A" "r.(?)" "p.(Gly511Ser)" "26" "missense" "Gly421Ser" "0000707588" "00005456" "99" "1531" "0" "1531" "0" "c.1531G>A" "r.(?)" "p.(Gly511Ser)" "26" "missense" "Gly421Ser" "0000707589" "00005456" "99" "1532" "0" "1532" "0" "c.1532G>A" "r.(?)" "p.(Gly511Asp)" "26" "missense" "Gly421Asp" "0000707590" "00005456" "99" "1532" "0" "1532" "0" "c.1532G>T" "r.(?)" "p.(Gly511Val)" "26" "missense" "Gly421Val" "0000707591" "00005456" "99" "1541" "0" "1541" "0" "c.1541G>T" "r.(?)" "p.(Gly514Val)" "26" "missense" "Gly424Val" "0000707592" "00005456" "99" "1549" "0" "1549" "0" "c.1549G>A" "r.(?)" "p.(Gly517Ser)" "26" "missense" "Gly427Ser" "0000707593" "00005456" "99" "1549" "0" "1549" "0" "c.1549G>C" "r.(?)" "p.(Gly517Arg)" "26" "missense" "Gly427Arg" "0000707594" "00005456" "99" "1549" "0" "1549" "0" "c.1549G>C" "r.(?)" "p.(Gly517Arg)" "26" "missense" "Gly427Arg" "0000707595" "00005456" "99" "1550" "0" "1550" "0" "c.1550G>A" "r.(?)" "p.(Gly517Asp )" "26" "missense" "Gly427Asp" "0000707596" "00005456" "99" "1550" "0" "1550" "0" "c.1550G>A" "r.(?)" "p.(Gly517Asp )" "26" "missense" "Gly427Asp" "0000707597" "00005456" "99" "1557" "3" "1557" "3" "c.1557+3A>G" "r.spl?" "p.?" "26i" "splicing affected?" "" "0000707598" "00005456" "99" "1557" "3" "1557" "3" "c.1557+3A>G" "r.spl?" "p.?" "26i" "splicing affected?" "" "0000707599" "00005456" "59" "1557" "3" "1557" "3" "c.1557+3A>G" "r.spl?" "p.?" "26i" "splicing affected?" "" "0000707600" "00005456" "99" "1557" "3" "1557" "3" "c.1557+3A>G" "r.spl?" "p.?" "26i" "splicing affected?" "" "0000707601" "00005456" "99" "1558" "0" "1558" "0" "c.1558G>A" "r.spl?" "p.(Gly520Ser)" "27" "missense" "Gly430Ser" "0000707602" "00005456" "99" "1576" "0" "1576" "0" "c.1576G>A" "r.(?)" "p.(Gly526Arg)" "27" "missense" "Gly436Arg" "0000707603" "00005456" "99" "1577" "0" "1577" "0" "c.1577G>A" "r.(?)" "p.(Gly526Glu)" "27" "missense" "Gly436Glu" "0000707604" "00005456" "99" "1577" "0" "1577" "0" "c.1577G>A" "r.(?)" "p.(Gly526Glu)" "27" "missense" "Gly436Glu" "0000707605" "00005456" "99" "1577" "0" "1577" "0" "c.1577G>A" "r.(?)" "p.(Gly526Glu)" "27" "missense" "Gly436Glu" "0000707606" "00005456" "11" "1583" "0" "1583" "0" "c.1583A>G" "r.(?)" "p.(Asn528Ser)" "27" "missense" "Asn438Ser" "0000707607" "00005456" "99" "1585" "0" "1585" "0" "c.1585G>T" "r.(?)" "p.(Gly529Cys)" "27" "missense" "Gly439Cys" "0000707608" "00005456" "99" "1586" "0" "1586" "0" "c.1586G>A" "r.(?)" "p.(Gly529Asp)" "27" "missense" "Gly439Asp" "0000707609" "00005456" "99" "1595" "0" "1595" "0" "c.1595G>A" "r.(?)" "p.(Gly532Glu)" "27" "missense" "Gly442Glu" "0000707610" "00005456" "99" "1612" "-2" "1612" "-2" "c.1612-2A>G" "r.spl" "p.?" "27i" "splicing affected?" "" "0000707611" "00005456" "95" "1612" "0" "1612" "0" "c.1612G>A" "r.spl?" "p.(Gly538Ser)" "28" "missense" "Gly448Ser" "0000707612" "00005456" "99" "1621" "0" "1621" "0" "c.1621G>T" "r.(?)" "p.(Gly541Cys)" "28" "missense" "Gly451Cys" "0000707613" "00005456" "99" "1630" "0" "1630" "0" "c.1630G>A" "r.(?)" "p.(Gly544Ser)" "28" "missense" "Gly454Ser" "0000707614" "00005456" "99" "1630" "0" "1630" "0" "c.1630G>A" "r.(?)" "p.(Gly544Ser)" "28" "missense" "Gly454Ser" "0000707615" "00005456" "99" "1630" "0" "1630" "0" "c.1630G>T" "r.(?)" "p.(Gly544Cys)" "28" "missense" "Gly454Cys" "0000707616" "00005456" "99" "1631" "0" "1631" "0" "c.1631G>T" "r.(?)" "p.(Gly544Val)" "28" "missense" "Gly454Val" "0000707617" "00005456" "99" "1639" "0" "1639" "0" "c.1639G>C" "r.(?)" "p.(Gly547Arg)" "28" "missense" "Gly457Arg" "0000707618" "00005456" "11" "1645" "0" "1645" "0" "c.1645C>G" "r.(?)" "p.(Pro549Ala)" "28" "missense" "Pro459Ala" "0000707619" "00005456" "11" "1645" "0" "1645" "0" "c.1645C>G" "r.(?)" "p.(Pro549Ala)" "28" "missense" "Pro459Ala" "0000707620" "00005456" "13" "1645" "0" "1645" "0" "c.1645C>G" "r.(?)" "p.(Pro549Ala)" "28" "missense" "Pro459Ala" "0000707621" "00005456" "99" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Ser)" "28" "missense" "Gly460Ser" "0000707622" "00005456" "99" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Ser)" "28" "missense" "Gly460Ser" "0000707623" "00005456" "99" "1658" "0" "1658" "0" "c.1658G>A" "r.(?)" "p.(Gly553Asp)" "28" "missense" "Gly463Asp" "0000707624" "00005456" "99" "1658" "0" "1658" "0" "c.1658G>T" "r.(?)" "p.(Gly553Val)" "28" "missense" "Gly463Val" "0000707625" "00005456" "99" "1666" "0" "1666" "0" "c.1666G>T" "r.(?)" "p.(Gly556Cys)" "29" "missense" "Gly466Cys" "0000707626" "00005456" "99" "1666" "0" "1666" "0" "c.1666G>T" "r.(?)" "p.(Gly556Cys)" "29" "missense" "Gly466Cys" "0000707627" "00005456" "99" "1684" "0" "1684" "0" "c.1684G>T" "r.(?)" "p.(Gly562Cys)" "29" "missense" "Gly472Cys" "0000707628" "00005456" "99" "1685" "0" "1685" "0" "c.1685G>A" "r.(?)" "p.(Gly562Asp)" "29" "missense" "Gly472Asp" "0000707629" "00005456" "99" "1685" "0" "1685" "0" "c.1685G>T" "r.(?)" "p.(Gly562Val)" "29" "missense" "Gly472Val" "0000707630" "00005456" "99" "1685" "0" "1685" "0" "c.1685G>T" "r.(?)" "p.(Gly562Val)" "29" "missense" "Gly472Val" "0000707631" "00005456" "11" "1690" "0" "1690" "0" "c.1690G>A" "r.(?)" "p.(Ala564Thr)" "29" "missense" "Ala474Thr" "0000707632" "00005456" "99" "1693" "0" "1693" "0" "c.1693G>A" "r.(?)" "p.(Gly565Ser )" "29" "missense" "Gly475Ser" "0000707633" "00005456" "99" "1701" "0" "1719" "6" "c.1701_1719+6del" "r.spl" "p.?" "29" "splicing affected?" "" "0000707634" "00005456" "99" "1703" "0" "1703" "0" "c.1703G>A" "r.(?)" "p.(Gly568Asp)" "29" "missense" "Gly478Asp" "0000707635" "00005456" "99" "1711" "0" "1711" "0" "c.1711G>A" "r.(?)" "p.(Gly571Arg )" "29" "missense" "Gly481Arg" "0000707636" "00005456" "99" "1720" "-2" "1720" "-2" "c.1720-2A>G" "r.spl" "p.?" "29i" "splicing affected?" "" "0000707637" "00005456" "99" "1720" "0" "1720" "0" "c.1720G>A" "r.spl?" "p.(Gly574Ser)" "30" "missense" "Gly484Ser" "0000707638" "00005456" "33" "1727" "0" "1727" "0" "c.1727A>G" "r.(?)" "p.(His576Arg)" "30" "missense" "His486Arg" "0000707639" "00005456" "99" "1729" "0" "1729" "0" "c.1729G>A" "r.(?)" "p.(Gly577Ser)" "30" "missense" "Gly487Ser" "0000707640" "00005456" "99" "1730" "0" "1730" "0" "c.1730G>A" "r.(?)" "p.(Gly577Asp)" "30" "missense" "Gly487Asp" "0000707641" "00005456" "99" "1756" "0" "1756" "0" "c.1756G>A" "r.(?)" "p.(Gly586Ser)" "30" "missense" "Gly496Ser" "0000707642" "00005456" "99" "1756" "0" "1756" "0" "c.1756G>C" "r.(?)" "p.(Gly586Arg)" "30" "missense" "Gly496Arg" "0000707643" "00005456" "99" "1764" "1" "1764" "1" "c.1764+1G>A" "r.spl" "p.?" "30i" "splicing affected?" "" "0000707644" "00005456" "99" "1774" "0" "1774" "0" "c.1774G>A" "r.(?)" "p.(Gly592Ser)" "31" "missense" "Gly502Ser" "0000707645" "00005456" "99" "1774" "0" "1774" "0" "c.1774G>A" "r.(?)" "p.(Gly592Ser)" "31" "missense" "Gly502Ser" "0000707646" "00005456" "99" "1774" "0" "1774" "0" "c.1774G>A" "r.(?)" "p.(Gly592Ser)" "31" "missense" "Gly502Ser" "0000707647" "00005456" "99" "1774" "0" "1774" "0" "c.1774G>A" "r.(?)" "p.(Gly592Ser)" "31" "missense" "Gly502Ser" "0000707648" "00005456" "99" "1774" "0" "1774" "0" "c.1774G>A" "r.(?)" "p.(Gly592Ser)" "31" "missense" "Gly502Ser" "0000707649" "00005456" "99" "1774" "0" "1774" "0" "c.1774G>A" "r.(?)" "p.(Gly592Ser)" "31" "missense" "Gly502Ser" "0000707650" "00005456" "99" "1783" "0" "1783" "0" "c.1783G>A" "r.(?)" "p.(Gly595Ser)" "31" "missense" "Gly505Ser" "0000707651" "00005456" "99" "1783" "0" "1783" "0" "c.1783G>T" "r.(?)" "p.(Gly595Cys )" "31" "missense" "Gly505Cys" "0000707652" "00005456" "99" "1793" "0" "1793" "0" "c.1793G>T" "r.(?)" "p.(Gly598Val)" "31" "missense" "Gly508Val" "0000707653" "00005456" "99" "1801" "0" "1801" "0" "c.1801G>A" "r.(?)" "p.(Gly601Ser)" "31" "missense" "Gly511Ser" "0000707654" "00005456" "99" "1801" "0" "1801" "0" "c.1801G>A" "r.(?)" "p.(Gly601Ser)" "31" "missense" "Gly511Ser" "0000707655" "00005456" "99" "1801" "0" "1801" "0" "c.1801G>A" "r.(?)" "p.(Gly601Ser)" "31" "missense" "Gly511Ser" "0000707656" "00005456" "99" "1801" "0" "1801" "0" "c.1801G>A" "r.(?)" "p.(Gly601Ser)" "31" "missense" "Gly511Ser" "0000707657" "00005456" "99" "1801" "0" "1801" "0" "c.1801G>A" "r.(?)" "p.(Gly601Ser)" "31" "missense" "Gly511Ser" "0000707658" "00005456" "99" "1801" "0" "1801" "0" "c.1801G>A" "r.(?)" "p.(Gly601Ser)" "31" "missense" "Gly511Ser" "0000707659" "00005456" "99" "1801" "0" "1801" "0" "c.1801G>A" "r.(?)" "p.(Gly601Ser)" "31" "missense" "Gly511Ser" "0000707660" "00005456" "99" "1801" "0" "1801" "0" "c.1801G>A" "r.(?)" "p.(Gly601Ser)" "31" "missense" "Gly511Ser" "0000707661" "00005456" "99" "1802" "0" "1802" "0" "c.1802G>A" "r.(?)" "p.(Gly601Asp)" "31" "missense" "Gly511Asp" "0000707662" "00005456" "99" "1802" "0" "1802" "0" "c.1802G>T" "r.(?)" "p.(Gly601Val)" "31" "missense" "Gly511Val" "0000707663" "00005456" "99" "1846" "0" "1846" "0" "c.1846G>C" "r.(?)" "p.(Gly616Arg)" "31" "missense" "Gly526Arg" "0000707664" "00005456" "99" "1863" "0" "1863" "0" "c.1863G>A" "r.spl?" "p.(?)" "31" "splicing affected?" "" "0000707665" "00005456" "99" "1874" "0" "1874" "0" "c.1874G>A" "r.(?)" "p.(Gly625Asp)" "32" "missense" "Gly535Asp" "0000707666" "00005456" "99" "1874" "0" "1874" "0" "c.1874G>A" "r.(?)" "p.(Gly625Asp)" "32" "missense" "Gly535Asp" "0000707667" "00005456" "11" "1878" "0" "1878" "0" "c.1878G>T" "r.(?)" "p.(=)" "32" "silent" "" "0000707668" "00005456" "99" "1882" "0" "1882" "0" "c.1882G>C" "r.(?)" "p.(Gly628Arg)" "32" "missense" "Gly538Arg" "0000707669" "00005456" "99" "1892" "0" "1892" "0" "c.1892G>T" "r.(?)" "p.(Gly631Val)" "32" "missense" "Gly541Val" "0000707670" "00005456" "95" "1900" "0" "1900" "0" "c.1900G>C" "r.(?)" "p.(Gly634Arg)" "32" "missense" "Gly544Arg" "0000707671" "00005456" "99" "1901" "0" "1901" "0" "c.1901G>A" "r.(?)" "p.(Gly634Asp)" "32" "missense" "Gly544Asp" "0000707672" "00005456" "99" "1901" "0" "1901" "0" "c.1901G>T" "r.(?)" "p.(Gly634Val)" "32" "missense" "Gly544Val" "0000707673" "00005456" "99" "1910" "0" "1910" "0" "c.1910G>A" "r.(?)" "p.(Gly637Asp)" "32" "missense" "Gly547Asp" "0000707674" "00005456" "99" "1910" "0" "1910" "0" "c.1910G>A" "r.(?)" "p.(Gly637Asp)" "32" "missense" "Gly547Asp" "0000707675" "00005456" "95" "1913" "0" "1913" "0" "c.1913C>T" "r.(?)" "p.(Pro638Leu)" "32" "missense" "Pro548Leu" "0000707676" "00005456" "99" "1919" "0" "1919" "0" "c.1919G>A" "r.(?)" "p.(Gly640Glu)" "32" "missense" "Gly550Glu" "0000707677" "00005456" "99" "1936" "0" "1936" "0" "c.1936G>T" "r.(?)" "p.(Gly646Cys)" "32" "missense" "Gly556Cys" "0000707678" "00005456" "99" "1937" "0" "1937" "0" "c.1937G>T" "r.(?)" "p.(Gly646Val)" "32" "missense" "Gly556Val" "0000707679" "00005456" "99" "1937" "0" "1937" "0" "c.1937G>T" "r.(?)" "p.(Gly646Val)" "32" "missense" "Gly556Val" "0000707680" "00005456" "99" "1937" "0" "1937" "0" "c.1937G>T" "r.(?)" "p.(Gly646Val)" "32" "missense" "Gly556Val" "0000707681" "00005456" "99" "1946" "0" "1946" "0" "c.1946G>A" "r.(?)" "p.(Gly649Asp)" "32" "missense" "Gly559Asp" "0000707682" "00005456" "99" "1946" "0" "1946" "0" "c.1946G>A" "r.(?)" "p.(Gly649Asp)" "32" "missense" "Gly559Asp" "0000707683" "00005456" "99" "1946" "0" "1946" "0" "c.1946G>A" "r.(?)" "p.(Gly649Asp)" "32" "missense" "Gly559Asp" "0000707684" "00005456" "95" "1964" "0" "1964" "0" "c.1964G>A" "r.(?)" "p.(Gly655Glu)" "32" "missense" "Gly565Glu" "0000707685" "00005456" "99" "1964" "0" "1964" "0" "c.1964G>T" "r.(?)" "p.(Gly655Val)" "32" "missense" "Gly565Val" "0000707686" "00005456" "99" "1971" "1" "1971" "1" "c.1971+1G>A" "r.spl" "p.?" "32i" "splicing affected?" "" "0000707687" "00005456" "99" "1971" "1" "1971" "1" "c.1971+1G>A" "r.spl" "p.?" "32i" "splicing affected?" "" "0000707688" "00005456" "99" "1971" "2" "1971" "33" "c.1971+2_1971+33del" "r.spl" "p.?" "32i" "splicing affected?" "" "0000707689" "00005456" "99" "540" "37" "1972" "-220" "c.540+37_1972-220dup" "r.?" "p.(Gly181_Lys657dup)" "11i_32i" "insertion" "" "0000707690" "00005456" "99" "1972" "0" "1972" "0" "c.1972G>A" "r.spl?" "p.(Gly658Ser)" "33" "missense" "Gly568Ser" "0000707691" "00005456" "99" "1981" "0" "1981" "0" "c.1981G>A" "r.(?)" "p.(Gly661Ser)" "33" "missense" "Gly571Ser" "0000707692" "00005456" "99" "1981" "0" "1981" "0" "c.1981G>C" "r.(?)" "p.(Gly661Arg)" "33" "missense" "Gly571Arg" "0000707693" "00005456" "99" "1981" "0" "1981" "0" "c.1981G>T" "r.(?)" "p.(Gly661Cys)" "33" "missense" "Gly571Cys" "0000707694" "00005456" "99" "1981" "0" "1981" "0" "c.1981G>T" "r.(?)" "p.(Gly661Cys)" "33" "missense" "Gly571Cys" "0000707695" "00005456" "99" "1981" "0" "1981" "0" "c.1981G>T" "r.(?)" "p.(Gly661Cys)" "33" "missense" "Gly571Cys" "0000707696" "00005456" "95" "1981" "0" "1981" "0" "c.1981G>T" "r.(?)" "p.(Gly661Cys)" "33" "missense" "Gly571Cys" "0000707697" "00005456" "99" "1982" "0" "1982" "0" "c.1982G>A" "r.(?)" "p.(Gly661Asp)" "33" "missense" "Gly571Asp" "0000707698" "00005456" "99" "1982" "0" "1982" "0" "c.1982G>A" "r.(?)" "p.(Gly661Asp)" "33" "missense" "Gly571Asp" "0000707699" "00005456" "99" "1982" "0" "1982" "0" "c.1982G>T" "r.(?)" "p.(Gly661Val)" "33" "missense" "Gly571Val" "0000707700" "00005456" "99" "1991" "0" "1991" "0" "c.1991G>A" "r.(?)" "p.(Gly664Asp)" "33" "missense" "Gly574Asp" "0000707701" "00005456" "99" "1991" "0" "1991" "0" "c.1991G>A" "r.(?)" "p.(Gly664Asp)" "33" "missense" "Gly574Asp" "0000707702" "00005456" "95" "1991" "0" "1991" "0" "c.1991G>T" "r.(?)" "p.(Gly664Val)" "33" "missense" "" "0000707703" "00005456" "99" "2008" "0" "2008" "0" "c.2008G>C" "r.(?)" "p.(Gly670Arg)" "33" "missense" "Gly580Arg" "0000707704" "00005456" "99" "2009" "0" "2009" "0" "c.2009G>A" "r.(?)" "p.(Gly670Asp)" "33" "missense" "Gly580Asp" "0000707705" "00005456" "99" "2009" "0" "2009" "0" "c.2009G>A" "r.(?)" "p.(Gly670Asp)" "33" "missense" "Gly580Asp" "0000707706" "00005456" "99" "2018" "0" "2018" "0" "c.2018G>A" "r.(?)" "p.(Gly673Asp)" "33" "missense" "Gly583Asp" "0000707707" "00005456" "99" "2018" "0" "2018" "0" "c.2018G>A" "r.(?)" "p.(Gly673Asp)" "33" "missense" "Gly583Asp" "0000707708" "00005456" "99" "2025" "4" "2025" "4" "c.2025+4A>G" "r.spl?" "p.?" "33i" "splicing affected?" "" "0000707709" "00005456" "95" "2025" "4" "2025" "4" "c.2025+4A>G" "r.spl?" "p.?" "33i" "splicing affected?" "" "0000707710" "00005456" "99" "2025" "5" "2025" "5" "c.2025+5G>A" "r.spl?" "p.?" "33i" "splicing affected?" "" "0000707711" "00005456" "99" "2025" "334" "2565" "183" "c.2025+334_2565+183del" "r.?" "p.(Gly676_Ala855del)" "33i_40i" "deletion, multi exon" "" "0000707712" "00005456" "99" "2026" "-1" "2031" "0" "c.2026-1_2031dup" "r.spl" "p.(Pro678Glyfs*17)" "33i_34" "frameshift" "" "0000707713" "00005456" "95" "2026" "-1" "2042" "0" "c.2026-1_2042dup" "r.spl" "p.?" "33i_34" "other/complex" "" "0000707714" "00005456" "95" "2026" "-1" "2042" "0" "c.2026-1_2042dup" "r.spl" "p.?" "33i_34" "splicing affected?" "" "0000707715" "00005456" "99" "2026" "0" "2026" "0" "c.2026G>C" "r.spl?" "p.(Gly676Arg)" "34" "missense" "Gly586Arg" "0000707716" "00005456" "99" "2027" "0" "2027" "0" "c.2027G>A" "r.(?)" 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"p.(Gly709Val)" "35" "missense" "Gly619Val" "0000707749" "00005456" "99" "2133" "5" "2133" "5" "c.2133+5G>A" "r.spl?" "p.?" "35i" "splicing affected?" "" "0000707750" "00005456" "99" "2133" "6" "2133" "6" "c.2133+6T>A" "r.spl?" "p.?" "35i" "splicing affected?" "" "0000707751" "00005456" "99" "2133" "6" "2133" "6" "c.2133+6T>A" "r.spl?" "p.?" "35i" "splicing affected?" "" "0000707752" "00005456" "99" "2133" "6" "2133" "6" "c.2133+6T>A" "r.spl?" "p.?" "35i" "splicing affected?" "" "0000707753" "00005456" "95" "2133" "6" "2133" "6" "c.2133+6T>A" "r.spl?" "p.?" "35i" "splicing affected?" "" "0000707754" "00005456" "93" "2133" "8" "2133" "8" "c.2133+8A>C" "r.spl?" "p.?" "35i" "splicing affected?" "" "0000707755" "00005456" "99" "2134" "0" "2134" "0" "c.2134G>A" "r.spl?" "p.(Gly712Ser)" "36" "missense" "Gly622Ser" "0000707756" "00005456" "99" "2134" "0" "2134" "0" "c.2134G>A" "r.spl?" "p.(Gly712Ser)" "36" "missense" "Gly622Ser" "0000707757" "00005456" "99" "2135" "0" "2135" "0" "c.2135G>A" "r.(?)" "p.(Gly712Asp)" "36" "missense" "Gly622Asp" "0000707758" "00005456" "99" "2135" "0" "2135" "0" "c.2135G>A" "r.(?)" "p.(Gly712Asp)" "36" "missense" "Gly622Asp" "0000707759" "00005456" "95" "2141" "0" "2141" "0" "c.2141G>T" "r.(?)" "p.(Arg714Leu)" "36" "missense" "" "0000707760" "00005456" "99" "2143" "0" "2143" "0" "c.2143G>A" "r.(?)" "p.(Gly715Ser)" "36" "missense" "Gly625Ser" "0000707761" "00005456" "99" "2144" "0" "2144" "0" "c.2144G>A" "r.(?)" "p.(Gly715Asp)" "36" "missense" "Gly625Asp" "0000707762" "00005456" "99" "2144" "0" "2144" "0" "c.2144G>A" "r.(?)" "p.(Gly715Asp)" "36" "missense" "Gly625Asp" "0000707763" "00005456" "51" "2145" "0" "2145" "0" "c.2145T>C" "r.(?)" "p.(=)" "36" "silent" "" "0000707764" "00005456" "99" "2152" "0" "2152" "0" "c.2152G>A" "r.(?)" "p.(Gly718Ser)" "36" "missense" "Gly628Ser" "0000707765" "00005456" "99" "2152" "0" "2152" "0" "c.2152G>A" "r.(?)" "p.(Gly718Ser)" "36" "missense" "Gly628Ser" "0000707766" "00005456" "99" "2152" "0" "2152" "0" "c.2152G>A" "r.(?)" "p.(Gly718Ser)" "36" "missense" "Gly628Ser" "0000707767" "00005456" "99" "2161" "0" "2161" "0" "c.2161G>A" "r.(?)" "p.(Gly721Ser)" "36" "missense" "Gly631Ser" "0000707768" "00005456" "51" "2169" "0" "2169" "0" "c.2169T>C" "r.(?)" "p.(=)" "36" "silent" "" "0000707769" "00005456" "99" "2171" "0" "2171" "0" "c.2171G>A" "r.(?)" "p.(Gly724Glu)" "36" "missense" "Gly634Glu" "0000707770" "00005456" "99" "2175" "0" "2187" "14" "c.2175_2187+14dup" "r.spl" "p.?" "36" "splicing affected?" "" "0000707771" "00005456" "51" "2184" "0" "2184" "0" "c.2184T>G" "r.(?)" "p.(=)" "36" "silent" "" "0000707772" "00005456" "99" "2187" "2" "2187" "2" "c.2187+2T>C" "r.spl" "p.?" "36i" "splicing affected?" "" "0000707773" "00005456" "99" "2187" "2" "2187" "2" "c.2187+2T>C" "r.spl" "p.?" "36i" "splicing affected?" "" "0000707774" "00005456" "93" "2188" "-4" "2188" "-4" "c.2188-4A>C" "r.spl?" "p.?" "36i" "splicing affected?" "" "0000707775" "00005456" "99" "2188" "0" "2188" "0" "c.2188G>C" "r.spl?" "p.(Gly730Arg)" "37" "missense" "Gly640Arg" "0000707776" "00005456" "99" "2188" "0" "2188" "0" "c.2188G>C" "r.spl?" "p.(Gly730Arg)" "37" "missense" "Gly640Arg" "0000707777" "00005456" "99" "2188" "0" "2188" "0" "c.2188G>T" "r.spl?" "p.(Gly730Cys)" "37" "missense" "Gly640Cys" "0000707778" "00005456" "99" "2197" "0" "2197" "0" "c.2197G>T" "r.(?)" "p.(Gly733Cys)" "37" "missense" "Gly643Cys" "0000707779" "00005456" "99" "2197" "0" "2197" "0" "c.2197G>T" "r.(?)" "p.(Gly733Cys)" "37" "missense" "Gly643Cys" "0000707780" "00005456" "99" "2197" "0" "2197" "0" "c.2197G>T" "r.(?)" "p.(Gly733Cys)" "37" "missense" "Gly643Cys" "0000707781" "00005456" "99" "2197" "0" "2197" "0" "c.2197G>T" "r.(?)" "p.(Gly733Cys)" "37" "missense" "Gly643Cys" "0000707782" "00005456" "95" "2197" "0" "2197" "0" "c.2197G>T" "r.(?)" "p.(Gly733Cys)" "37" "missense" "Gly643Cys" "0000707783" "00005456" "99" "2198" "0" "2198" "0" "c.2198G>T" "r.(?)" "p.(Gly733Val)" "37" "missense" "Gly643Val" "0000707784" "00005456" "51" "2205" "0" "2205" "0" "c.2205T>G" "r.(?)" "p.(=)" "37" "silent" "" "0000707785" "00005456" "99" "2206" "0" "2206" "0" "c.2206G>T" "r.(?)" "p.(Gly736Cys)" "37" "missense" "Gly646Cys" "0000707786" "00005456" "99" "2206" "0" "2206" "0" "c.2206G>T" "r.(?)" "p.(Gly736Cys)" "37" "missense" "Gly646Cys" "0000707787" "00005456" "99" "2206" "0" "2206" "0" "c.2206G>T" "r.(?)" "p.(Gly736Cys)" "37" "missense" "Gly646Cys" "0000707788" "00005456" "99" "2206" "0" "2206" "0" "c.2206G>T" "r.(?)" "p.(Gly736Cys)" "37" "missense" "Gly646Cys" "0000707789" "00005456" "99" "2206" "0" "2206" "0" "c.2206G>T" "r.(?)" "p.(Gly736Cys)" "37" "missense" "Gly646Cys" "0000707790" "00005456" "99" "2215" "0" "2215" "0" "c.2215G>A" "r.(?)" "p.(Gly739Arg)" "37" "missense" "Gly649Arg" "0000707791" "00005456" "99" "2215" "0" "2215" "0" "c.2215G>A" "r.(?)" "p.(Gly739Arg)" "37" "missense" "Gly649Arg" "0000707792" "00005456" "99" "2216" "0" "2216" "0" "c.2216G>A" "r.(?)" "p.(Gly739Glu)" "37" "missense" "Gly649Glu" "0000707793" "00005456" "75" "2224" "0" "2224" "0" "c.2224G>A" "r.(?)" "p.(Gly742Arg)" "37" "missense" "Gly652Arg" "0000707794" "00005456" "51" "2228" "0" "2228" "0" "c.2228C>G" "r.(?)" "p.(Ala743Gly)" "37" "missense" "Ala653Gly" "0000707795" "00005456" "99" "2233" "0" "2233" "0" "c.2233G>A" "r.(?)" "p.(Gly745Arg)" "37" "missense" "Gly655Arg" "0000707796" "00005456" "99" "2233" "0" "2233" "0" "c.2233G>C" "r.(?)" "p.(Gly745Arg)" "37" "missense" "Gly655Arg" "0000707797" "00005456" "95" "2233" "0" "2233" "0" "c.2233G>C" "r.(?)" "p.(Gly745Arg)" "37" "missense" "Gly655Arg" "0000707798" "00005456" "99" "2234" "0" "2234" "0" "c.2234G>A" "r.(?)" "p.(Gly745Glu)" "37" "missense" "Gly655Glu" "0000707799" "00005456" "99" "2234" "0" "2234" "0" "c.2234G>A" "r.(?)" "p.(Gly745Glu)" "37" "missense" "Gly655Glu" "0000707800" "00005456" "99" "2242" "0" "2242" "0" "c.2242G>A" "r.(?)" "p.(Gly748Ser)" "37" "missense" "" "0000707801" "00005456" "95" "2242" "0" "2242" "0" "c.2242G>A" "r.(?)" "p.(Gly748Ser)" "37" "missense" "Gly658Ser" "0000707802" "00005456" "95" "2242" "0" "2242" "0" "c.2242G>A" "r.(?)" "p.(Gly748Ser)" "37" "missense" "Gly658Ser" "0000707803" "00005456" "99" "2243" "0" "2243" "0" "c.2243G>T" "r.(?)" "p.(Gly748Val)" "37" "missense" "Gly658Val" "0000707804" "00005456" "99" "2251" "0" "2251" "0" "c.2251G>A" "r.(?)" "p.(Gly751Ser)" "37" "missense" "Gly661Ser" "0000707805" "00005456" "99" "2252" "0" "2252" "0" "c.2252G>T" "r.(?)" "p.(Gly751Val)" "37" "missense" "Gly661Val" "0000707806" "00005456" "99" "2260" "0" "2260" "0" "c.2260G>C" "r.(?)" "p.(Gly754Arg)" "37" "missense" "Gly664Arg" "0000707807" "00005456" "99" "2260" "0" "2260" "0" "c.2260G>T" "r.(?)" "p.(Gly754Cys)" "37" "missense" "Gly664Cys" "0000707808" "00005456" "99" "2261" "0" "2261" "0" "c.2261G>T" "r.(?)" "p.(Gly754Val)" "37" "missense" "Gly664Val" "0000707809" "00005456" "99" "2269" "0" "2269" "0" "c.2269G>A" "r.(?)" "p.(Gly757Ser)" "37" "missense" "Gly667Ser" "0000707810" "00005456" "99" "2269" "0" "2269" "0" "c.2269G>A" "r.(?)" "p.(Gly757Ser)" "37" "missense" "Gly667Ser" "0000707811" "00005456" "99" "2269" "0" "2269" "0" "c.2269G>C" "r.(?)" "p.(Gly757Arg)" "37" "missense" "Gly667Arg" "0000707812" "00005456" "99" "2270" "0" "2270" "0" "c.2270G>T" "r.(?)" "p.(Gly757Val)" "37" "missense" "Gly667Val" "0000707813" "00005456" "79" "2279" "0" "2279" "0" "c.2279G>A" "r.(?)" 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"" "0000707822" "00005456" "99" "2295" "1" "2295" "1" "c.2295+1G>T" "r.spl" "p.?" "37i" "splicing affected?" "" "0000707823" "00005456" "99" "2296" "-2" "2296" "-2" "c.2296-2A>G" "r.spl" "p.?" "37i" "splicing affected?" "" "0000707824" "00005456" "99" "2296" "0" "2296" "0" "c.2296G>A" "r.spl?" "p.(Gly766Ser)" "38" "missense" "Gly676Ser" "0000707825" "00005456" "95" "2296" "0" "2296" "0" "c.2296G>A" "r.spl?" "p.(Gly766Ser)" "38" "missense" "Gly676Ser" "0000707826" "00005456" "99" "2296" "0" "2296" "0" "c.2296G>T" "r.spl?" "p.(Gly766Cys)" "38" "missense" "" "0000707827" "00005456" "99" "2297" "0" "2297" "0" "c.2297G>A" "r.(?)" "p.(Gly766Asp)" "38" "missense" "Gly676Asp" "0000707828" "00005456" "99" "2297" "0" "2297" "0" "c.2297G>T" "r.(?)" "p.(Gly766Val)" "38" "missense" "Gly676Val" "0000707829" "00005456" "99" "2297" "0" "2297" "0" "c.2297G>T" "r.(?)" "p.(Gly766Val)" "38" "missense" "Gly676Val" "0000707830" "00005456" "99" "2305" "0" "2305" "0" "c.2305G>C" "r.(?)" 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"p.(Gly772Ser)" "38" "missense" "Gly682Ser" "0000707839" "00005456" "99" "2314" "0" "2314" "0" "c.2314G>A" "r.(?)" "p.(Gly772Ser)" "38" "missense" "Gly682Ser" "0000707840" "00005456" "99" "2314" "0" "2314" "0" "c.2314G>A" "r.(?)" "p.(Gly772Ser)" "38" "missense" "Gly682Ser" "0000707841" "00005456" "99" "2314" "0" "2314" "0" "c.2314G>A" "r.(?)" "p.(Gly772Ser)" "38" "missense" "Gly682Ser" "0000707842" "00005456" "99" "2314" "0" "2314" "0" "c.2314G>A" "r.(?)" "p.(Gly772Ser)" "38" "missense" "Gly682Ser" "0000707843" "00005456" "99" "2314" "0" "2314" "0" "c.2314G>A" "r.(?)" "p.(Gly772Ser)" "38" "missense" "Gly682Ser" "0000707844" "00005456" "99" "2314" "0" "2314" "0" "c.2314G>A" "r.(?)" "p.(Gly772Ser)" "38" "missense" "Gly682Ser" "0000707845" "00005456" "99" "2314" "0" "2314" "0" "c.2314G>A" "r.(?)" "p.(Gly772Ser)" "38" "missense" "Gly682Ser" "0000707846" "00005456" "95" "2314" "0" "2314" "0" "c.2314G>A" "r.(?)" 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"p.(Gly772Ser)" "38" "missense" "Gly682Ser" "0000707863" "00005456" "99" "2314" "0" "2314" "0" "c.2314G>A" "r.(?)" "p.(Gly772Ser)" "38" "missense" "Gly682Ser" "0000707864" "00005456" "99" "2314" "0" "2314" "0" "c.2314G>A" "r.(?)" "p.(Gly772Ser)" "38" "missense" "Gly682Ser" "0000707865" "00005456" "95" "2314" "0" "2314" "0" "c.2314G>A" "r.(?)" "p.(Gly772Ser)" "38" "missense" "Gly682Ser" "0000707866" "00005456" "99" "2314" "0" "2314" "0" "c.2314G>T" "r.(?)" "p.(Gly772Cys)" "38" "missense" "Gly682Cys" "0000707867" "00005456" "99" "2315" "0" "2315" "0" "c.2315G>T" "r.(?)" "p.(Gly772Val)" "38" "missense" "Gly682Val" "0000707868" "00005456" "99" "2323" "0" "2323" "0" "c.2323G>A" "r.(?)" "p.(Gly775Arg)" "38" "missense" "Gly685Arg" "0000707869" "00005456" "95" "2323" "0" "2323" "0" "c.2323G>A" "r.(?)" "p.(Gly775Arg)" "38" "missense" "Gly685Arg" "0000707870" "00005456" "95" "2323" "0" "2323" "0" "c.2323G>A" "r.(?)" 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"p.(Gly790Asp)" "39" "missense" "Gly700Asp" "0000707887" "00005456" "99" "2369" "0" "2369" "0" "c.2369G>A" "r.(?)" "p.(Gly790Asp)" "39" "missense" "Gly700Asp" "0000707888" "00005456" "99" "2369" "0" "2369" "0" "c.2369G>C" "r.(?)" "p.(Gly790Ala )" "39" "missense" "Gly700Ala" "0000707889" "00005456" "99" "2377" "0" "2377" "0" "c.2377G>A" "r.(?)" "p.(Gly793Arg)" "39" "missense" "Gly703Arg" "0000707890" "00005456" "99" "2377" "0" "2377" "0" "c.2377G>C" "r.(?)" "p.(Gly793Arg)" "39" "missense" "Gly703Arg" "0000707891" "00005456" "99" "2386" "0" "2386" "0" "c.2386G>A" "r.(?)" "p.(Gly796Ser)" "39" "missense" "Gly706Ser" "0000707892" "00005456" "99" "2386" "0" "2386" "0" "c.2386G>A" "r.(?)" "p.(Gly796Ser)" "39" "missense" "Gly706Ser" "0000707893" "00005456" "99" "2386" "0" "2386" "0" "c.2386G>T" "r.(?)" "p.(Gly796Cys)" "39" "missense" "Gly706Cys" "0000707894" "00005456" "99" "2387" "0" "2387" "0" "c.2387G>C" "r.(?)" 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"" "0000707943" "00005456" "99" "2565" "1" "2565" "1" "c.2565+1G>A" "r.spl" "p.?" "40i" "splicing affected?" "" "0000707944" "00005456" "99" "2565" "1" "2565" "1" "c.2565+1G>A" "r.spl" "p.?" "40i" "splicing affected?" "" "0000707945" "00005456" "99" "2565" "1" "2565" "1" "c.2565+1G>A" "r.spl" "p.?" "40i" "splicing affected?" "" "0000707946" "00005456" "99" "2565" "1" "2565" "1" "c.2565+1G>C" "r.spl" "p.?" "40i" "splicing affected?" "" "0000707947" "00005456" "79" "2565" "2" "2565" "2" "c.2565+2dup" "r.spl?" "p.?" "40i" "splicing affected?" "" "0000707948" "00005456" "99" "2565" "5" "2565" "5" "c.2565+5G>A" "r.spl?" "p.?" "40i" "splicing affected?" "" "0000707949" "00005456" "99" "2567" "0" "2567" "0" "c.2567G>T" "r.(?)" "p.(Gly856Val)" "41" "missense" "Gly766Val" "0000707950" "00005456" "97" "2569" "0" "2569" "0" "c.2569C>A" "r.(?)" "p.(Pro857Thr)" "41" "missense" "Pro767Thr" "0000707951" "00005456" "93" "2569" "0" "2569" "0" "c.2569C>A" "r.(?)" 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"p.(Tyr1117Cys)" "49" "missense" "" "0000708192" "00005456" "99" "3355" "0" "3355" "0" "c.3355G>A" "r.(?)" "p.(Ala1119Thr)" "49" "missense" "" "0000708193" "00005456" "99" "3355" "0" "3355" "0" "c.3355G>A" "r.(?)" "p.(Ala1119Thr)" "49" "missense" "" "0000708194" "00005456" "99" "3358" "0" "3358" "0" "c.3358G>A" "r.(?)" "p.(Asp1120Asn)" "49" "missense" "" "0000708195" "00005456" "99" "3359" "0" "3359" "0" "c.3359A>C" "r.(?)" "p.(Asp1120Ala)" "49" "missense" "" "0000708196" "00005456" "35" "3442" "0" "3442" "0" "c.3442A>C" "r.(?)" "p.(Thr1148Pro)" "49" "missense" "" "0000708197" "00005456" "75" "3464" "0" "3464" "0" "c.3464C>T" "r.(?)" "p.(Ser1155Phe)" "49" "missense" "Ser1065Phe" "0000708198" "00005456" "55" "3464" "0" "3464" "0" "c.3464C>T" "r.(?)" "p.(Ser1155Phe)" "49" "missense" "" "0000708199" "00005456" "95" "3467" "0" "3467" "0" "c.3467G>A" "r.(?)" "p.(Arg1156Lys)" "49" "missense" "" "0000708200" "00005456" "99" "3487" "0" "3487" "0" "c.3487T>C" "r.(?)" "p.(Cys1163Arg)" "49" "missense" "" "0000708201" "00005456" "99" "3491" "0" "3491" "0" "c.3491G>A" "r.(?)" "p.(Arg1164His)" "49" "missense" "" "0000708202" "00005456" "99" "3495" "0" "3495" "0" "c.3495C>G" "r.(?)" "p.(Asp1165Glu)" "49" "missense" "" "0000708203" "00005456" "99" "3527" "0" "3527" "0" "c.3527G>T" "r.(?)" "p.(Gly1176Val)" "50" "missense" "" "0000708204" "00005456" "99" "3545" "0" "3545" "0" "c.3545C>G" "r.(?)" "p.(Pro1182Arg)" "50" "missense" "" "0000708205" "00005456" "51" "3546" "0" "3546" "0" "c.3546T>C" "r.(?)" "p.(=)" "50" "silent" "" "0000708206" "00005456" "51" "3567" "0" "3567" "0" "c.3567T>A" "r.(?)" "p.(Asp1189Glu)" "50" "missense" "" "0000708207" "00005456" "59" "3568" "0" "3568" "0" "c.3568dup" "r.(?)" "p.(Ala1190Glyfs*7)" "50" "frameshift" "" "0000708208" "00005456" "99" "3583" "0" "3583" "0" "c.3583T>C" "r.(?)" "p.(Cys1195Arg)" "50" "missense" "" "0000708209" "00005456" "99" "3584" "0" "3584" "0" "c.3584G>A" "r.(?)" "p.(Cys1195Tyr)" "50" "missense" "" "0000708210" "00005456" "51" "3592" "0" "3592" "0" "c.3592T>C" "r.(?)" "p.(Ser1198Pro)" "50" "missense" "" "0000708211" "00005456" "51" "3597" "0" "3597" "0" "c.3597T>C" "r.(?)" "p.(=)" "50" "silent" "" "0000708212" "00005456" "99" "3601" "0" "3601" "0" "c.3601G>T" "r.(?)" "p.(Glu1201*)" "50" "nonsense" "" "0000708213" "00005456" "93" "3712" "-32" "3712" "-32" "c.3712-32A>C" "r.?" "p.?" "50i" "other/complex" "" "0000708214" "00005456" "51" "3726" "0" "3726" "0" "c.3726A>T" "r.(?)" "p.(=)" "51" "silent" "" "0000708215" "00005456" "75" "3733" "0" "3733" "0" "c.3733G>A" "r.(?)" "p.(Val1245Met)" "51" "missense" "" "0000708216" "00005456" "99" "3773" "0" "3773" "0" "c.3773G>A" "r.(?)" "p.(Arg1258His)" "51" "missense" "Arg1168His" "0000708217" "00005456" "99" "3785" "0" "3785" "0" "c.3785A>G" "r.(?)" "p.(Asn1262Ser)" "51" "missense" "" "0000708218" "00005456" "99" "3788" "0" "3788" "0" "c.3788A>G" "r.(?)" "p.(Tyr1263Cys)" "51" "missense" "" "0000708219" "00005456" "95" "3794" "0" "3794" "0" "c.3794C>G" "r.(?)" "p.(Ser1265Cys)" "51" "missense" "" "0000708220" "00005456" "51" "3798" "0" "3798" "0" "c.3798G>A" "r.(?)" "p.(=)" "51" "silent" "" "0000708221" "00005456" "99" "3805" "0" "3805" "0" "c.3805A>C" "r.(?)" "p.(Thr1269Pro)" "51" "missense" "" "0000708222" "00005456" "99" "3815" "0" "3815" "0" "c.3815G>A" "r.(?)" "p.(Cys1272Tyr)" "51" "missense" "" "0000708223" "00005456" "99" "3815" "0" "3815" "0" "c.3815G>C" "r.(?)" "p.(Cys1272Ser)" "51" "missense" "" "0000708224" "00005456" "95" "3826" "0" "3826" "0" "c.3826A>T" "r.(?)" "p.(Ile1276Phe)" "51" "missense" "Ile1186Phe" "0000708225" "00005456" "51" "3849" "0" "3849" "0" "c.3849T>C" "r.(?)" "p.(=)" "51" "silent" "" "0000708226" "00005456" "51" "3852" "0" "3852" "0" "c.3852C>A" "r.(?)" "p.(=)" "51" "silent" "" "0000708227" "00005456" "35" "3853" "0" "3853" "0" "c.3853A>C" "r.(?)" "p.(Asn1285His)" "51" "missense" "" "0000708228" "00005456" "99" "3859" "0" "3859" "0" "c.3859del" "r.(?)" "p.(Lys1288Argfs*27)" "51" "frameshift" "" "0000708229" "00005456" "99" "3897" "0" "3916" "0" "c.3897_3916del" "r.(?)" "p.(Leu1300Glnfs*13)" "51" "frameshift" "" "0000708230" "00005456" "99" "3938" "0" "3938" "0" "c.3938T>C" "r.(?)" "p.(Leu1313Pro)" "51" "missense" "" "0000708231" "00005456" "99" "3942" "0" "3942" "0" "c.3942dup" "r.(?)" "p.(Asp1315Argfs*5)" "51" "frameshift" "" "0000708232" "00005456" "51" "3943" "0" "3943" "0" "c.3943G>A" "r.(?)" "p.(Asp1315Asn)" "51" "missense" "" "0000708233" "00005456" "99" "3944" "0" "3944" "0" "c.3944A>T" "r.(?)" "p.(Asp1315Val)" "51" "missense" "" "0000708234" "00005456" "99" "3952" "0" "3952" "0" "c.3952dup" "r.(?)" "p.(Ser1318Phefs*2)" "51" "frameshift" "" "0000708235" "00005456" "99" "3963" "0" "3966" "0" "c.3963_3966del" "r.(?)" "p.(Glu1323Glyfs*45)" "52" "frameshift" "" "0000708236" "00005456" "99" "3972" "0" "3972" "0" "c.3972G>A" "r.(?)" "p.(Trp1324*)" "52" "nonsense" "" "0000708237" "00005456" "99" "3994" "0" "3994" "0" "c.3994A>G" "r.(?)" "p.(Lys1332Glu)" "52" "missense" "" "0000708238" "00005456" "99" "4001" "0" "4004" "0" "c.4001_4004del" "r.(?)" "p.(Asn1334Serfs*34)" "52" "frameshift" "" "0000708239" "00005456" "99" "4016" "0" "4016" "0" "c.4016T>G" "r.(?)" "p.(Leu1339Arg)" "52" "missense" "" "0000708240" "00005456" "51" "4034" "0" "4034" "0" "c.4034C>T" "r.(?)" "p.(Ala1345Val)" "52" "missense" "" "0000708241" "00005456" "99" "4040" "0" "4040" "0" "c.4040T>A" "r.(?)" "p.(Leu1347*)" "52" "nonsense" "" "0000708242" "00005456" "33" "4048" "0" "4048" "0" "c.4048G>A" "r.(?)" "p.(Gly1350Ser)" "52" "missense" "" "0000708243" "00005456" "93" "4048" "0" "4048" "0" "c.4048G>A" "r.(?)" "p.(Gly1350Ser)" "52" "missense" "" "0000708244" "00005456" "99" "4048" "0" "4048" "0" "c.4048G>A" "r.(?)" "p.(Gly1350Ser)" "52" "missense" "" "0000708245" "00005456" "99" "4060" "0" "4060" "0" "c.4060C>T" "r.(?)" "p.(Gln1354*)" "52" "nonsense" "" "0000708246" "00005456" "51" "4062" "0" "4062" "0" "c.4062G>T" "r.(?)" "p.(Gln1354His)" "52" "missense" "" "0000708247" "00005456" "75" "4078" "0" "4078" "0" "c.4078A>G" "r.(?)" "p.(Ile1360Val)" "52" "missense" "" "0000708248" "00005456" "99" "4082" "0" "4082" "0" "c.4082G>T" "r.(?)" "p.(Gly1361Val)" "52" "missense" "" "0000708249" "00005456" "99" "4082" "0" "4082" "0" "c.4082G>T" "r.(?)" "p.(Gly1361Val)" "52" "missense" "" "0000708250" "00005456" "99" "4095" "0" "4095" "0" "c.4095C>A" "r.(?)" "p.(Phe1365Leu)" "52" "missense" "" "0000708251" "00005456" "99" "4099" "0" "4099" "0" "c.4099T>C" "r.(?)" "p.(*1367Glnext*5)" "52" "no-stop" "" "0000712610" "00005456" "79" "1019" "0" "1019" "0" "c.1019G>A" "r.(?)" "p.(Gly340Asp)" "19" "" "" "0000712611" "00005456" "79" "578" "0" "578" "0" "c.578G>A" "r.(?)" "p.(Gly193Asp)" "12" "" "" "0000712612" "00005456" "99" "432" "1" "432" "1" "c.432+1G>A" "r.spl" "p.?" "9i" "splicing affected" "" "0000712613" "00005456" "79" "1171" "0" "1171" "0" "c.1171G>C" "r.(?)" "p.(Gly391Arg)" "21" "" "" "0000712614" "00005456" "79" "792" "2" "792" "2" "c.792+2T>C" "r.spl" "p.?" "16i" "" "" "0000712615" "00005456" "79" "965" "0" "965" "0" "c.965G>T" "r.(?)" "p.(Gly322Val)" "19" "" "" "0000712616" "00005456" "79" "1801" "0" "1801" "0" "c.1801G>A" "r.(?)" "p.(Gly601Ser)" "31" "" "" "0000712617" "00005456" "99" "2288" "0" "2288" "0" "c.2288G>A" "r.(?)" "p.(Gly763Asp)" "37" "" "" "0000712628" "00005456" "55" "3473" "0" "3473" "0" "c.3473A>C" "r.(?)" "p.(Asn1158Thr)" "49" "" "" "0000712629" "00005456" "53" "671" "0" "671" "0" "c.671G>A" "r.(?)" "p.(Arg224His)" "14" "" "" "0000721605" "00005456" "30" "133" "-304" "133" "-304" "c.133-304G>A" "r.(=)" "p.(=)" "4i" "" "" "0000721606" "00005456" "50" "502" "0" "502" "0" "c.502C>T" "r.(?)" "p.(Pro168Ser)" "11" "" "" "0000721607" "00005456" "30" "594" "5" "594" "5" "c.594+5A>T" "r.spl?" "p.?" "12i" "" "" "0000721608" "00005456" "50" "1277" "0" "1277" "0" "c.1277G>A" "r.(?)" "p.(Ser426Asn)" "23" "" "" "0000721609" "00005456" "30" "1773" "0" "1773" "0" "c.1773C>T" "r.(?)" "p.(Arg591=)" "31" "" "" "0000721610" "00005456" "30" "2163" "0" "2163" "0" "c.2163C>T" "r.(?)" "p.(Gly721=)" "36" "" "" "0000721611" "00005456" "50" "2425" "0" "2425" "0" "c.2425C>T" "r.(?)" "p.(Pro809Ser)" "40" "" "" "0000721612" "00005456" "50" "2642" "0" "2642" "0" "c.2642A>C" "r.(?)" "p.(Glu881Ala)" "41" "" "" "0000721613" "00005456" "50" "2893" "0" "2893" "0" "c.2893C>T" "r.(?)" "p.(Pro965Ser)" "44" "" "" "0000721614" "00005456" "30" "3139" "0" "3139" "0" "c.3139G>A" "r.(?)" "p.(Val1047Met)" "47" "" "" "0000721615" "00005456" "50" "3566" "0" "3566" "0" "c.3566A>G" "r.(?)" "p.(Asp1189Gly)" "50" "" "" "0000729873" "00005456" "90" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Gly460Ser)" "24" "" "" "0000729874" "00005456" "90" "2873" "0" "2873" "0" "c.2873G>A" "r.(?)" "p.(Gly958Asp)" "44" "" "" "0000729875" "00005456" "90" "3043" "0" "3043" "0" "c.3043G>A" "r.(?)" "p.(Gly1015Arg)" "46" "" "" "0000729876" "00005456" "90" "821" "0" "821" "0" "c.821G>A" "r.(?)" "p.(Gly274Asp)" "17" "" "" "0000729877" "00005456" "90" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Gly460Ser)" "24" "" "" "0000760691" "00005456" "70" "3242" "0" "3242" "0" "c.3242G>A" "r.(?)" "p.(Gly1081Asp)" "48" "missense" "" "0000760692" "00005456" "90" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Gly460Ser)" "24" "missense" "" "0000760693" "00005456" "90" "1801" "0" "1801" "0" "c.1801G>A" "r.(?)" "p.(Gly601Ser)" "31" "missense" "" "0000760991" "00005456" "90" "2189" "0" "2189" "0" "c.2189G>T" "r.(?)" "p.(Gly730Val)" "37" "" "" "0000760992" "00005456" "50" "1764" "3" "1764" "6" "c.1764+3_1764+6del" "r.spl" "p.?" "30i" "" "" "0000760996" "00005456" "90" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Gly337Asp)" "19" "" "" "0000763548" "00005456" "90" "1937" "0" "1937" "0" "c.1937G>T" "r.(?)" "p.(Gly646Val)" "32" "missense" "" "0000803295" "00005456" "30" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(Pro102Ser)" "7" "" "" "0000803296" "00005456" "30" "390" "0" "390" "0" "c.390T>A" "r.(?)" "p.(Gly130=)" "9" "" "" "0000803297" "00005456" "90" "891" "1" "891" "1" "c.891+1G>A" "r.spl?" "p.?" "17i" "" "" "0000803298" "00005456" "30" "993" "0" "993" "0" "c.993C>T" "r.(?)" "p.(Gly331=)" "19" "" "" "0000803299" "00005456" "10" "1252" "-7" "1252" "-7" "c.1252-7del" "r.(=)" "p.(=)" "22i" "" "" "0000803300" "00005456" "10" "1252" "-7" "1252" "-7" "c.1252-7del" "r.(=)" "p.(=)" "22i" "" "" "0000803301" "00005456" "10" "1252" "-7" "1252" "-7" "c.1252-7dup" "r.(=)" "p.(=)" "22i" "" "" "0000803302" "00005456" "30" "1764" "6" "1764" "6" "c.1764+6T>C" "r.(=)" "p.(=)" "30i" "" "" "0000803303" "00005456" "30" "1767" "0" "1767" "0" "c.1767G>A" "r.(?)" "p.(Gly589=)" "31" "" "" "0000803304" "00005456" "50" "2168" "0" "2168" "0" "c.2168A>T" "r.(?)" "p.(Asn723Ile)" "36" "" "" "0000803305" "00005456" "70" "2187" "1" "2187" "1" "c.2187+1G>C" "r.spl?" "p.?" "36i" "" "" "0000803306" "00005456" "30" "2425" "0" "2425" "0" "c.2425C>T" "r.(?)" "p.(Pro809Ser)" "40" "" "" "0000803307" "00005456" "70" "2673" "0" "2673" "0" "c.2673G>A" "r.(?)" "p.(Val891=)" "41" "" "" "0000803308" "00005456" "90" "2673" "1" "2673" "1" "c.2673+1G>T" "r.spl?" "p.?" "41i" "" "" "0000803309" "00005456" "70" "2801" "0" "2801" "0" "c.2801G>A" "r.(?)" "p.(Gly934Asp)" "43" "" "" "0000803310" "00005456" "50" "3806" "0" "3806" "0" "c.3806C>T" "r.(?)" "p.(Thr1269Ile)" "51" "" "" "0000803311" "00005456" "50" "3879" "0" "3879" "0" "c.3879G>T" "r.(?)" "p.(Gln1293His)" "51" "" "" "0000830810" "00005456" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Gly280Ser)" "17" "" "" "0000830818" "00005456" "90" "848" "0" "848" "0" "c.848G>T" "r.(?)" "p.(Gly283Val)" "17" "" "" "0000830819" "00005456" "90" "3278" "0" "3278" "0" "c.3278G>C" "r.(?)" "p.(Gly1093Ala)" "49" "" "" "0000830821" "00005456" "90" "1756" "0" "1756" "0" "c.1756G>A" "r.(?)" "p.(Gly586Ser)" "30" "" "" "0000830823" "00005456" "90" "1035" "0" "1035" "2" "c.1035_1035+2del" "r.spl" "p.?" "19_19i" "" "" "0000830827" "00005456" "90" "1090" "0" "1090" "0" "c.1090G>T" "r.(?)" "p.(Gly364Cys)" "21" "" "" "0000830828" "00005456" "90" "2198" "0" "2198" "0" "c.2198G>T" "r.(?)" "p.(Gly733Val)" "37" "" "" "0000830830" "00005456" "90" "1801" "0" "1801" "0" "c.1801G>A" "r.(?)" "p.(Gly601Ser)" "31" "" "" "0000830832" "00005456" "90" "694" "-2" "694" "-2" "c.694-2A>G" "r.spl" "p.?" "14i" "" "" "0000833447" "00005456" "50" "937" "-3" "937" "-3" "c.937-3C>T" "r.spl?" "p.?" "18i" "splicing affected?" "" "0000833449" "00005456" "90" "2104" "0" "2121" "0" "c.2104_2121dup" "r.(?)" "p.(Ala702_Pro707dup)" "35" "duplication" "" "0000833451" "00005456" "55" "2642" "0" "2642" "0" "c.2642A>C" "r.(?)" "p.(Glu881Ala)" "41" "missense" "" "0000833452" "00005456" "55" "2642" "0" "2642" "0" "c.2642A>C" "r.(?)" "p.(Glu881Ala)" "41" "missense" "" "0000851720" "00005456" "30" "81" "15" "81" "15" "c.81+15T>C" "r.(=)" "p.(=)" "2i" "" "" "0000851721" "00005456" "30" "1329" "0" "1329" "0" "c.1329G>A" "r.(?)" "p.(Glu443=)" "23" "" "" "0000851722" "00005456" "50" "2123" "0" "2123" "0" "c.2123G>A" "r.(?)" "p.(Arg708Gln)" "35" "" "" "0000851723" "00005456" "50" "2957" "0" "2957" "0" "c.2957C>T" "r.(?)" "p.(Pro986Leu)" "45" "" "" "0000851724" "00005456" "50" "3337" "0" "3337" "0" "c.3337G>A" "r.(?)" "p.(Asp1113Asn)" "49" "" "" "0000851725" "00005456" "10" "3849" "0" "3849" "0" "c.3849T>C" "r.(?)" "p.(Thr1283=)" "51" "" "" "0000860967" "00005456" "50" "701" "0" "701" "0" "c.701G>A" "r.(?)" "p.(Arg234His)" "15" "" "" "0000860968" "00005456" "30" "1089" "0" "1089" "0" "c.1089C>G" "r.(?)" "p.(Pro363=)" "20" "" "" "0000860969" "00005456" "30" "1326" "0" "1326" "0" "c.1326G>A" "r.(?)" "p.(Gly442=)" "23" "" "" "0000860970" "00005456" "30" "1770" "0" "1770" "0" "c.1770A>G" "r.(?)" "p.(Glu590=)" "31" "" "" "0000860971" "00005456" "30" "1773" "0" "1773" "0" "c.1773C>T" "r.(?)" "p.(Arg591=)" "31" "" "" "0000860972" "00005456" "50" "2188" "-3" "2188" "-3" "c.2188-3C>A" "r.spl?" "p.?" "36i" "" "" "0000860973" "00005456" "30" "2313" "0" "2313" "0" "c.2313C>T" "r.(?)" "p.(Pro771=)" "38" "" "" "0000860974" "00005456" "50" "3613" "0" "3613" "0" "c.3613C>T" "r.(?)" "p.(Arg1205Trp)" "50" "" "" "0000868736" "00005456" "90" "1513" "0" "1513" "0" "c.1513G>A" "r.(?)" "p.(Gly505Ser)" "26" "" "" "0000876712" "00005456" "99" "704" "0" "704" "0" "c.704G>A" "r.(?)" "p.(Gly235Asp)" "15" "missense" "" "0000876713" "00005456" "99" "1972" "-222" "1972" "-222" "c.1972-222G>C" "r.spl" "p.(Gly181_Lys657dup)" "32i" "" "" "0000876714" "00005456" "99" "1972" "-220" "1972" "-220" "c.1972-220T>A" "r.spl" "p.(Gly181_Lys657dup)" "32i" "" "" "0000877435" "00005456" "90" "395" "0" "395" "0" "c.395G>A" "r.(?)" "p.(Arg132His)" "" "missense" "" "0000877436" "00005456" "93" "1503" "12" "1503" "14" "c.1503+12_1503+14del" "r.spl" "p.?" "" "splicing affected?" "" "0000877437" "00005456" "90" "2427" "0" "2435" "0" "c.2427_2435dup" "r.(?)" "p.(Pro810_Pro812dup)" "" "insertion" "" "0000877438" "00005456" "90" "2960" "0" "2968" "0" "c.2960_2968dup" "r.(?)" "p.(Val987_Pro989dup)" "" "duplication" "" "0000877439" "00005456" "90" "3197" "0" "3197" "0" "c.3197G>T" "r.(?)" "p.(Gly1066Val)" "" "missense" "" "0000877510" "00005456" "99" "2341" "0" "2341" "0" "c.2341G>T" "r.(?)" "p.(Gly781Cys)" "38" "missense" "Gly691Cys" "0000878052" "00005456" "90" "279" "2" "279" "2" "c.279+2T>G" "r.spl" "p.?" "6i" "" "" "0000878057" "00005456" "70" "197" "0" "197" "0" "c.197G>A" "r.(?)" "p.(Gly66Asp)" "5" "" "" "0000878058" "00005456" "90" "3601" "0" "3601" "0" "c.3601G>T" "r.(?)" "p.(Glu1201Ter)" "50" "" "" "0000878070" "00005456" "50" "1277" "0" "1277" "0" "c.1277G>T" "r.(?)" "p.(Ser426Ile)" "23" "" "" "0000878079" "00005456" "90" "577" "0" "577" "0" "c.577G>A" "r.(?)" "p.(Gly193Ser)" "12" "" "" "0000878085" "00005456" "50" "539" "0" "539" "0" "c.539G>A" "r.(?)" "p.(Arg180Lys)" "11" "" "" "0000878094" "00005456" "70" "406" "0" "406" "0" "c.406G>A" "r.(?)" "p.(Gly136Ser)" "9" "" "" "0000878097" "00005456" "50" "1439" "0" "1439" "0" "c.1439T>C" "r.(?)" "p.(Ile480Thr)" "25" "" "" "0000878099" "00005456" "70" "2755" "0" "2755" "0" "c.2755G>A" "r.(?)" "p.(Gly919Ser)" "42" "" "" "0000878119" "00005456" "70" "2251" "0" "2251" "0" "c.2251G>A" "r.(?)" "p.(Gly751Ser)" "37" "" "" "0000878121" "00005456" "50" "2356" "0" "2356" "0" "c.2356A>C" "r.(?)" "p.(Thr786Pro)" "39" "" "" "0000878122" "00005456" "50" "1124" "0" "1124" "0" "c.1124G>C" "r.(?)" "p.(Ser375Thr)" "21" "" "" "0000878123" "00005456" "90" "1171" "0" "1171" "0" "c.1171G>A" "r.(?)" "p.(Gly391Ser)" "21" "" "" "0000878126" "00005456" "50" "3481" "0" "3481" "0" "c.3481C>T" "r.(?)" "p.(Arg1161Cys)" "49" "" "" "0000878139" "00005456" "70" "910" "0" "910" "0" "c.910G>A" "r.(?)" "p.(Gly304Ser)" "18" "" "" "0000878142" "00005456" "70" "469" "0" "469" "0" "c.469G>A" "r.(?)" "p.(Gly157Arg)" "10" "" "" "0000878155" "00005456" "50" "2960" "0" "2960" "0" "c.2960T>C" "r.(?)" "p.(Val987Ala)" "45" "" "" "0000878158" "00005456" "50" "329" "0" "329" "0" "c.329C>T" "r.(?)" "p.(Pro110Leu)" "8" "" "" "0000878160" "00005456" "70" "279" "1" "279" "5" "c.279+1_279+5del" "r.spl" "p.?" "6i" "" "" "0000878168" "00005456" "90" "874" "0" "874" "0" "c.874G>A" "r.(?)" "p.(Gly292Ser)" "17" "" "" "0000878171" "00005456" "90" "578" "0" "578" "0" "c.578G>A" "r.(?)" "p.(Gly193Asp)" "12" "" "" "0000878172" "00005456" "70" "425" "0" "425" "0" "c.425G>A" "r.(?)" "p.(Gly142Asp)" "9" "" "" "0000878178" "00005456" "70" "2882" "0" "2882" "0" "c.2882G>A" "r.(?)" "p.(Gly961Asp)" "44" "" "" "0000878185" "00005456" "70" "2045" "0" "2045" "0" "c.2045G>T" "r.(?)" "p.(Gly682Val)" "34" "" "" "0000878186" "00005456" "70" "152" "0" "157" "0" "c.152_157dup" "r.(?)" "p.(Gly51_Arg52dup)" "" "" "" "0000878195" "00005456" "50" "3897" "0" "3916" "0" "c.3897_3916del" "r.(?)" "p.(Leu1300GlnfsTer13)" "51" "" "" "0000878198" "00005456" "50" "1384" "0" "1384" "0" "c.1384G>A" "r.(?)" "p.(Ala462Thr)" "24" "" "" "0000878208" "00005456" "50" "4037" "0" "4037" "0" "c.4037C>T" "r.(?)" "p.(Pro1346Leu)" "52" "" "" "0000888034" "00005456" "10" "132" "31" "132" "31" "c.132+31G>A" "r.(=)" "p.(=)" "" "" "" "0000888035" "00005456" "10" "226" "-11" "226" "-11" "c.226-11dup" "r.(=)" "p.(=)" "" "" "" "0000888036" "00005456" "90" "434" "0" "434" "0" "c.434G>T" "r.(?)" "p.(Gly145Val)" "" "" "" "0000888037" "00005456" "90" "946" "0" "946" "0" "c.946G>A" "r.(?)" "p.(Gly316Ser)" "" "" "" "0000888038" "00005456" "50" "949" "0" "949" "0" "c.949G>A" "r.(?)" "p.(Val317Ile)" "" "" "" "0000888039" "00005456" "10" "1251" "33" "1251" "33" "c.1251+33G>A" "r.(=)" "p.(=)" "" "" "" "0000888040" "00005456" "30" "1252" "-8" "1252" "-7" "c.1252-8_1252-7del" "r.(=)" "p.(=)" "" "" "" "0000888041" "00005456" "30" "1350" "11" "1350" "11" "c.1350+11A>T" "r.(=)" "p.(=)" "" "" "" "0000888042" "00005456" "50" "1402" "0" "1402" "0" "c.1402G>A" "r.(?)" "p.(Val468Ile)" "" "" "" "0000888043" "00005456" "90" "1514" "0" "1514" "0" "c.1514G>A" "r.(?)" "p.(Gly505Asp)" "" "" "" "0000888044" "00005456" "10" "1666" "-41" "1666" "-41" "c.1666-41G>A" "r.(=)" "p.(=)" "" "" "" "0000888045" "00005456" "30" "2026" "-41" "2026" "-41" "c.2026-41C>T" "r.(=)" "p.(=)" "" "" "" "0000888046" "00005456" "30" "2350" "-10" "2350" "-10" "c.2350-10T>C" "r.(=)" "p.(=)" "" "" "" "0000888047" "00005456" "50" "2403" "3" "2403" "3" "c.2403+3A>G" "r.spl?" "p.?" "" "" "" "0000888048" "00005456" "90" "2413" "0" "2413" "0" "c.2413G>C" "r.(?)" "p.(Gly805Arg)" "" "" "" "0000888049" "00005456" "50" "2456" "0" "2456" "0" "c.2456G>A" "r.(?)" "p.(Arg819His)" "" "" "" "0000888050" "00005456" "30" "2754" "0" "2754" "0" "c.2754C>T" "r.(?)" "p.(Asn918=)" "" "" "" "0000888051" "00005456" "30" "3139" "0" "3139" "0" "c.3139G>A" "r.(?)" "p.(Val1047Met)" "" "" "" "0000888052" "00005456" "30" "3894" "0" "3894" "0" "c.3894T>C" "r.(?)" "p.(Val1298=)" "" "" "" "0000897359" "00005456" "90" "1072" "0" "1072" "0" "c.1072G>A" "r.(?)" "p.(Gly358Ser)" "" "" "" "0000902747" "00005456" "90" "299" "0" "299" "0" "c.299G>A" "r.(?)" "p.(Gly100Asp)" "7" "missense" "" "0000908686" "00005456" "70" "577" "0" "577" "0" "c.577G>C" "r.(?)" "p.(Gly193Arg)" "12" "" "" "0000908687" "00005456" "70" "842" "0" "859" "0" "c.842_859dup" "r.(?)" "p.(Pro281_Gly286dup)" "17" "" "" "0000908688" "00005456" "90" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "" "" "0000908689" "00005456" "90" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "19" "" "" "0000908690" "00005456" "90" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Gly337Ser)" "19" "" "" "0000908691" "00005456" "90" "1072" "0" "1072" "0" "c.1072G>A" "r.(?)" "p.(Gly358Ser)" "20" "" "" "0000908692" "00005456" "90" "1072" "0" "1072" "0" "c.1072G>A" "r.(?)" "p.(Gly358Ser)" "20" "" "" "0000908693" "00005456" "90" "1153" "0" "1153" "0" "c.1153G>A " "r.(?)" "p.(Gly385Arg)" "21" "" "" "0000908694" "00005456" "70" "1433" "0" "1433" "0" "c.1433G>A" "r.(?)" "p.(Gly478Asp)" "25" "" "" "0000908695" "00005456" "70" "1549" "0" "1549" "0" "c.1549G>A" "r.(?)" "p.(Gly517Ser)" "26" "" "" "0000908696" "00005456" "70" "1612" "0" "1612" "0" "c.1612G>A" "r.(?)" "p.(Gly538Ser)" "28" "" "" "0000908697" "00005456" "70" "1612" "0" "1612" "0" "c.1612G>A" "r.(?)" "p.(Gly538Ser)" "28" "" "" "0000908698" "00005456" "70" "1657" "0" "1657" "0" "c.1657G>T" "r.(?)" "p.(Gly553Cys)" "28" "" "" "0000908699" "00005456" "70" "2010" "0" "2013" "0" "c.2010_2013delinsG" "r.(?)" "p.(Arg671del)" "33" "" "" "0000908700" "00005456" "90" "2314" "0" "2314" "0" "c.2314G>C" "r.(?)" "p.(Gly772Arg)" "38" "" "" "0000908701" "00005456" "70" "2305" "0" "2305" "0" "c.2305G>C" "r.(?)" "p.(Gly769Arg)" "38" "" "" "0000908702" "00005456" "90" "2693" "0" "2693" "0" "c.2693G>T " "r.(?)" "p.(Gly898Val)" "42" "" "" "0000908703" "00005456" "70" "2738" "0" "2738" "0" "c.2738G>A" "r.(?)" "p.(Gly913Asp)" "42" "" "" "0000908704" "00005456" "90" "2835" "1" "2835" "1" "c.2835+1G>A" "r.spl" "p.?" "43i" "" "" "0000908705" "00005456" "90" "2835" "1" "2835" "1" "c.2835+1G>A" "r.spl" "p.?" "43i" "" "" "0000908706" "00005456" "70" "2854" "0" "2854" "0" "c.2854G>A" "r.(?)" "p.(Gly952Ser)" "44" "" "" "0000908707" "00005456" "70" "2882" "0" "2882" "0" "c.2882G>A" "r.(?)" "p.(Gly961Asp)" "44" "" "" "0000908708" "00005456" "90" "3034" "0" "3034" "0" "c.3034G>A" "r.(?)" "p.(Gly1012Ser)" "46" "" "" "0000908709" "00005456" "90" "3034" "0" "3034" "0" "c.3034G>A" "r.(?)" "p.(Gly1012Ser)" "46" "" "" "0000908710" "00005456" "70" "3142" "0" "3142" "0" "c.3142G>A" "r.(?)" "p.(Gly1048Ser)" "47" "" "" "0000908711" "00005456" "50" "3159" "0" "3159" "0" "c.3159G>A" "r.spl" "p.?" "47" "" "" "0000908712" "00005456" "90" "3106" "0" "3106" "0" "c.3106G>C" "r.(?)" "p.(Gly1036Arg)" "47" "" "" "0000908713" "00005456" "70" "3269" "0" "3269" "0" "c.3269G>A" "r.(?)" "p.(Gly1090Asp)" "49" "" "" "0000908714" "00005456" "70" "3269" "0" "3269" "0" "c.3269G>A " "r.(?)" "p.(Gly1090Asp)" "49" "" "" "0000908715" "00005456" "70" "3269" "0" "3269" "0" "c.3269G>A" "r.(?)" "p.(Gly1090Asp)" "49" "" "" "0000908716" "00005456" "70" "3584" "0" "3584" "0" "c.3584G>A" "r.(?)" "p.(Cys1195Tyr)" "50" "" "" "0000908958" "00005456" "90" "3296" "0" "3296" "0" "c.3296G>A" "r.(?)" "p.(Gly1099Glu)" "49" "missense" "Gly1009Glu" "0000912828" "00005456" "90" "226" "-2" "226" "-2" "c.226-2A>G" "r.spl?" "p.?" "" "" "" "0000912829" "00005456" "90" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Gly337Ser)" "" "" "" "0000912830" "00005456" "90" "1171" "0" "1171" "0" "c.1171G>A" "r.(?)" "p.(Gly391Ser)" "" "" "" "0000912831" "00005456" "70" "1220" "0" "1220" "0" "c.1220T>C" "r.(?)" "p.(Leu407Pro)" "" "" "" "0000912832" "00005456" "10" "1252" "-8" "1252" "-7" "c.1252-8_1252-7del" "r.(=)" "p.(=)" "" "" "" "0000912833" "00005456" "50" "2465" "0" "2465" "0" "c.2465G>A" "r.(?)" "p.(Arg822His)" "" "" "" "0000918100" "00005456" "57" "601" "0" "601" "0" "c.601C>A" "r.(?)" "p.(Pro201Thr)" "" "missense" "Pro111Thr" "0000918101" "00005456" "50" "661" "0" "661" "0" "c.661G>A" "r.(?)" "p.(Glu221Lys)" "" "missense" "Glu131Lys" "0000918102" "00005456" "57" "3706" "0" "3706" "0" "c.3706A>G" "r.(?)" "p.(Ser1236Gly)" "" "missense" "Ser1146Gly" "0000918103" "00005456" "57" "2776" "0" "2776" "0" "c.2776C>T" "r.(?)" "p.(Arg926Cys)" "" "missense" "Arg836Cys" "0000918104" "00005456" "57" "118" "0" "118" "0" "c.118C>A" "r.(?)" "p.(Pro40Thr)" "" "missense" "" "0000918105" "00005456" "57" "2642" "0" "2642" "0" "c.2642A>C" "r.(?)" "p.(Glu881Ala)" "" "missense" "Glu791Ala" "0000918106" "00005456" "59" "3313" "0" "3313" "0" "c.3313G>A" "r.(?)" "p.(Gly1105Ser)" "" "missense" "Gly1015Ser" "0000918372" "00005456" "90" "1531" "0" "1531" "0" "c.1531G>T" "r.(?)" "p.(Gly511Cys)" "" "missense" "" "0000918376" "00005456" "90" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Gly337Ser)" "19" "missense" "" "0000918378" "00005456" "90" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Gly337Ser)" "" "missense" "" "0000918843" "00005456" "90" "3159" "2" "3159" "2" "c.3159+2T>A" "r.spl?" "p.?" "" "splicing affected?" "" "0000918845" "00005456" "90" "1072" "0" "1072" "0" "c.1072G>A" "r.(?)" "p.(Gly358Ser)" "" "missense" "" "0000918851" "00005456" "90" "3269" "0" "3269" "0" "c.3269G>A" "r.(?)" "p.(Gly1090Asp)" "" "missense" "" "0000918863" "00005456" "70" "353" "0" "353" "0" "c.353G>A" "r.(?)" "p.(Gly118Asp)" "8" "" "" "0000918877" "00005456" "50" "2257" "0" "2257" "0" "c.2257G>C" "r.(?)" "p.(Val753Leu)" "37" "" "" "0000918881" "00005456" "50" "1966" "0" "1966" "0" "c.1966G>A" "r.(?)" "p.(Glu656Lys)" "32" "" "" "0000918888" "00005456" "30" "1148" "0" "1148" "0" "c.1148C>A" "r.(?)" "p.(Pro383His)" "21" "" "" "0000918890" "00005456" "90" "693" "1" "693" "1" "c.693+1G>A" "r.spl" "p.?" "15i" "" "" "0000918907" "00005456" "30" "1148" "0" "1148" "0" "c.1148C>A" "r.(?)" "p.(Pro383His)" "21" "" "" "0000919285" "00005456" "90" "856" "0" "856" "0" "c.856G>C" "r.(?)" "p.(Gly286Arg)" "" "missense" "" "0000919286" "00005456" "90" "1072" "0" "1072" "0" "c.1072G>A" "r.(?)" "p.(Gly358Ser)" "" "missense" "" "0000919287" "00005456" "90" "2198" "0" "2198" "0" "c.2198G>T" "r.(?)" "p.(Gly733Val)" "" "missense" "" "0000919288" "00005456" "90" "2783" "0" "2783" "0" "c.2783G>A" "r.(?)" "p.(Gly928Asp)" "" "missense" "" "0000919289" "00005456" "90" "3052" "0" "3052" "0" "c.3052G>A" "r.(?)" "p.(Gly1018Ser)" "" "missense" "" "0000919302" "00005456" "90" "647" "0" "647" "0" "c.647G>A" "r.(?)" "p.(Arg216His)" "" "missense" "" "0000919303" "00005456" "90" "874" "0" "874" "0" "c.874G>A" "r.(?)" "p.(Gly292Ser)" "" "missense" "" "0000919305" "00005456" "90" "1826" "0" "1826" "0" "c.1826G>A" "r.(?)" "p.(Arg609Gln)" "" "missense" "" "0000919306" "00005456" "90" "1826" "0" "1826" "0" "c.1826G>A" "r.(?)" "p.(Arg609Gln)" "" "missense" "" "0000919307" "00005456" "90" "2341" "0" "2341" "0" "c.2341G>C" "r.(?)" "p.(Gly781Arg)" "" "missense" "" "0000919308" "00005456" "90" "2756" "0" "2756" "0" "c.2756G>A" "r.(?)" "p.(Gly919Asp)" "" "missense" "" "0000919310" "00005456" "90" "2756" "0" "2756" "0" "c.2756G>A" "r.(?)" "p.(Gly919Asp)" "" "missense" "" "0000919311" "00005456" "90" "3034" "0" "3034" "0" "c.3034G>A" "r.(?)" "p.(Gly1012Ser)" "" "missense" "" "0000919312" "00005456" "90" "3034" "0" "3034" "0" "c.3034G>A" "r.(?)" "p.(Gly1012Ser)" "" "missense" "" "0000919313" "00005456" "90" "3277" "0" "3277" "0" "c.3277G>A" "r.(?)" "p.(Gly1093Ser)" "" "missense" "" "0000919563" "00005456" "90" "3977" "0" "3977" "0" "c.3977A>G" "r.(?)" "p.(Lys1326Arg)" "" "missense" "" "0000919564" "00005456" "90" "3977" "0" "3977" "0" "c.3977A>G" "r.(?)" "p.(Lys1326Arg)" "" "missense" "" "0000919577" "00005456" "90" "1897" "0" "1902" "0" "c.1897_1902dup" "r.(?)" "p.(Ala633_Gly634dup)" "" "" "" "0000920714" "00005456" "90" "3061" "0" "3061" "0" "c.3061G>T" "r.(?)" "p.(Gly1021Cys)" "" "" "" "0000921079" "00005456" "90" "2295" "1" "2295" "1" "c.2295+1G>C" "r.spl" "p.?" "" "splicing affected?" "" "0000921612" "00005456" "90" "1197" "5" "1197" "5" "c.1197+5G>A" "r.spl?" "p.?" "" "splicing affected" "" "0000921614" "00005456" "90" "1197" "5" "1197" "5" "c.1197+5G>A" "r.spl?" "p.?" "" "splicing affected" "" "0000921616" "00005456" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "" "missense" "" "0000921617" "00005456" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "" "missense" "" "0000924783" "00005456" "30" "1503" "11" "1503" "11" "c.1503+11C>T" "r.(=)" "p.(=)" "" "" "" "0000924784" "00005456" "30" "1504" "-19" "1504" "-19" "c.1504-19T>G" "r.(=)" "p.(=)" "" "" "" "0000924785" "00005456" "30" "1972" "-245" "1972" "-245" "c.1972-245G>T" "r.(=)" "p.(=)" "" "" "" "0000924786" "00005456" "30" "2025" "145" "2025" "145" "c.2025+145T>C" "r.(=)" "p.(=)" "" "" "" "0000924787" "00005456" "90" "2296" "-2" "2296" "-2" "c.2296-2A>G" "r.spl?" "p.?" "" "" "" "0000924788" "00005456" "30" "2313" "0" "2313" "0" "c.2313C>G" "r.(?)" "p.(Pro771=)" "" "" "" "0000924789" "00005456" "30" "2717" "0" "2717" "0" "c.2717G>A" "r.(?)" "p.(Arg906His)" "" "" "" "0000924790" "00005456" "90" "2846" "0" "2846" "0" "c.2846G>C" "r.(?)" "p.(Gly949Ala)" "" "" "" "0000924791" "00005456" "10" "3018" "0" "3018" "0" "c.3018C>T" "r.(?)" "p.(Gly1006=)" "" "" "" "0000927470" "00005456" "90" "3134" "0" "3134" "0" "c.3134G>A" "r.(?)" "p.(Gly1045Asp)" "" "missense" "" "0000927472" "00005456" "90" "1351" "0" "1351" "0" "c.1351G>A" "r.(?)" "p.(Gly451Ser)" "" "missense" "" "0000927580" "00005456" "90" "2701" "0" "2701" "0" "c.2701G>A" "r.(?)" "p.(Gly901Ser)" "42" "missense" "Gly811Ser" "0000927685" "00005456" "90" "3197" "0" "3197" "0" "c.3197G>T" "r.(?)" "p.(Gly1066Val)" "" "" "" "0000927686" "00005456" "90" "3197" "0" "3197" "0" "c.3197G>T" "r.(?)" "p.(Gly1066Val)" "" "missense" "" "0000927687" "00005456" "90" "3197" "0" "3197" "0" "c.3197G>T" "r.(?)" "p.(Gly1066Val)" "" "" "" "0000927688" "00005456" "90" "3197" "0" "3197" "0" "c.3197G>T" "r.(?)" "p.(Gly1066Val)" "" "missense" "" "0000929388" "00005456" "90" "326" "0" "326" "0" "c.326G>A" "r.(?)" "p.(Gly109Asp)" "" "" "" "0000929389" "00005456" "10" "1383" "0" "1383" "0" "c.1383C>T" "r.(?)" "p.(=)" "" "" "" "0000929390" "00005456" "50" "1556" "0" "1556" "0" "c.1556G>A" "r.(?)" "p.(Arg519Gln)" "" "" "" "0000929391" "00005456" "70" "1775" "0" "1775" "0" "c.1775G>A" "r.(?)" "p.(Gly592Asp)" "" "" "" "0000929392" "00005456" "90" "1927" "0" "1927" "0" "c.1927G>A" "r.(?)" "p.(Gly643Arg)" "" "" "" "0000929393" "00005456" "30" "2566" "-21" "2566" "-21" "c.2566-21C>G" "r.(=)" "p.(=)" "" "" "" "0000929394" "00005456" "30" "2904" "0" "2904" "0" "c.2904C>T" "r.(?)" "p.(Pro968=)" "" "" "" "0000929395" "00005456" "30" "3526" "135" "3526" "135" "c.3526+135G>A" "r.(=)" "p.(=)" "" "" "" "0000929396" "00005456" "30" "3853" "0" "3853" "0" "c.3853A>C" "r.(?)" "p.(Asn1285His)" "" "" "" "0000948963" "00005456" "30" "360" "0" "360" "0" "c.360T>C" "r.(?)" "p.(=)" "" "" "" "0000948964" "00005456" "90" "569" "0" "569" "0" "c.569G>T" "r.(?)" "p.(Gly190Val)" "" "" "" "0000948965" "00005456" "10" "975" "0" "975" "0" "c.975A>T" "r.(?)" "p.(=)" "" "" "" "0000948966" "00005456" "30" "1404" "160" "1404" "160" "c.1404+160A>G" "r.(=)" "p.(=)" "" "" "" "0000948967" "00005456" "10" "2078" "0" "2078" "0" "c.2078G>A" "r.(?)" "p.(Arg693Gln)" "" "" "" "0000948968" "00005456" "90" "2522" "0" "2522" "0" "c.2522G>C" "r.(?)" "p.(Gly841Ala)" "" "" "" "0000948969" "00005456" "30" "2782" "-12" "2782" "-12" "c.2782-12G>A" "r.(=)" "p.(=)" "" "" "" "0000948970" "00005456" "90" "2999" "0" "2999" "0" "c.2999del" "r.(?)" "p.(=)" "" "" "" "0000948971" "00005456" "50" "3031" "0" "3031" "0" "c.3031C>T" "r.(?)" "p.(Pro1011Ser)" "" "" "" "0000948972" "00005456" "50" "3313" "0" "3313" "0" "c.3313G>A" "r.(?)" "p.(Gly1105Ser)" "" "" "" "0000953697" "00005456" "70" "1882" "0" "1882" "0" "c.1882G>T" "r.(?)" "p.(Gly628Cys)" "" "" "" "0000959669" "00005456" "70" "1064" "0" "1064" "0" "c.1064G>T" "r.(?)" "p.(Gly355Val)" "" "" "" "0000959670" "00005456" "70" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Pro98Ser)" "" "" "" "0000964713" "00005456" "30" "225" "38" "225" "38" "c.225+38T>C" "r.(=)" "p.(=)" "" "" "" "0000964714" "00005456" "10" "226" "-12" "226" "-11" "c.226-12_226-11dup" "r.(=)" "p.(=)" "" "" "" "0000964715" "00005456" "70" "693" "5" "693" "5" "c.693+5G>T" "r.spl?" "p.?" "" "" "" "0000964716" "00005456" "90" "902" "0" "902" "0" "c.902G>A" "r.(?)" "p.(Gly301Glu)" "" "" "" "0000964717" "00005456" "90" "1783" "0" "1783" "0" "c.1783G>A" "r.(?)" "p.(Gly595Ser)" "" "" "" "0000964718" "00005456" "30" "2309" "0" "2309" "0" "c.2309C>T" "r.(?)" "p.(Pro770Leu)" "" "" "" "0000964719" "00005456" "10" "2349" "16" "2349" "16" "c.2349+16G>C" "r.(=)" "p.(=)" "" "" "" "0000964720" "00005456" "30" "2350" "-13" "2350" "-13" "c.2350-13G>A" "r.(=)" "p.(=)" "" "" "" "0000964721" "00005456" "10" "3106" "-55" "3106" "-55" "c.3106-55del" "r.(=)" "p.(=)" "" "" "" "0000972056" "00005456" "99" "299" "0" "299" "0" "c.299G>A" "r.(?)" "p.(Gly100Asp)" "7" "missense" "" "0000972090" "00005456" "70" "2846" "0" "2846" "0" "c.2846G>T" "r.(?)" "p.(Gly949Val)" "" "" "" "0000972091" "00005456" "70" "2846" "0" "2846" "0" "c.2846G>T" "r.(?)" "p.(Gly949Val)" "" "" "" "0000977901" "00005456" "50" "1129" "0" "1129" "0" "c.1129G>A" "r.(?)" "p.(Glu377Lys)" "" "" "" "0000977902" "00005456" "30" "1764" "234" "1764" "234" "c.1764+234A>G" "r.(=)" "p.(=)" "" "" "" "0000977903" "00005456" "50" "1772" "0" "1772" "0" "c.1772G>A" "r.(?)" "p.(Arg591His)" "" "" "" "0000977904" "00005456" "90" "1801" "0" "1801" "0" "c.1801G>A" "r.(?)" "p.(Gly601Ser)" "" "" "" "0000977905" "00005456" "10" "2078" "0" "2078" "0" "c.2078G>A" "r.(?)" "p.(Arg693Gln)" "" "" "" "0000977906" "00005456" "30" "2188" "-12" "2188" "-12" "c.2188-12T>C" "r.(=)" "p.(=)" "" "" "" "0000977907" "00005456" "50" "2245" "0" "2245" "0" "c.2245G>C" "r.(?)" "p.(Glu749Gln)" "" "" "" "0000977908" "00005456" "30" "2295" "129" "2295" "129" "c.2295+129T>C" "r.(=)" "p.(=)" "" "" "" "0000977909" "00005456" "30" "2295" "163" "2295" "163" "c.2295+163G>A" "r.(=)" "p.(=)" "" "" "" "0000977910" "00005456" "30" "2565" "114" "2565" "114" "c.2565+114A>G" "r.(=)" "p.(=)" "" "" "" "0000977911" "00005456" "70" "2710" "0" "2710" "0" "c.2710G>A" "r.(?)" "p.(Gly904Arg)" "" "" "" "0000977912" "00005456" "50" "3490" "0" "3490" "0" "c.3490C>G" "r.(?)" "p.(Arg1164Gly)" "" "" "" "0000977913" "00005456" "50" "3676" "0" "3676" "0" "c.3676G>A" "r.(?)" "p.(Val1226Ile)" "" "" "" "0000986098" "00005456" "30" "949" "0" "949" "0" "c.949G>A" "r.(?)" "p.(Val317Ile)" "" "" "" "0000989262" "00005456" "30" "2711" "0" "2711" "0" "c.2711G>C" "r.(?)" "p.(Gly904Ala)" "" "" "" "0000996751" "00005456" "10" "96" "10" "96" "10" "c.96+10C>T" "r.(=)" "p.(=)" "" "" "" "0000996752" "00005456" "10" "595" "-20" "595" "-20" "c.595-20C>T" "r.(=)" "p.(=)" "" "" "" "0000996753" "00005456" "90" "874" "0" "874" "0" "c.874G>A" "r.(?)" "p.(Gly292Ser)" "" "" "" "0000996754" "00005456" "30" "981" "0" "981" "0" "c.981C>T" "r.(?)" "p.(=)" "" "" "" "0000996755" "00005456" "30" "1252" "-23" "1252" "-23" "c.1252-23G>T" "r.(=)" "p.(=)" "" "" "" "0000996756" "00005456" "30" "1252" "-7" "1252" "-7" "c.1252-7del" "r.(=)" "p.(=)" "" "" "" "0000996757" "00005456" "50" "1402" "0" "1402" "0" "c.1402G>A" "r.(?)" "p.(Val468Ile)" "" "" "" "0000996758" "00005456" "30" "1430" "0" "1430" "0" "c.1430C>T" "r.(?)" "p.(Pro477Leu)" "" "" "" "0000996759" "00005456" "90" "1612" "-2" "1612" "-2" "c.1612-2A>G" "r.spl?" "p.?" "" "" "" "0000996760" "00005456" "30" "1765" "-216" "1765" "-216" "c.1765-216C>T" "r.(=)" "p.(=)" "" "" "" "0000996761" "00005456" "30" "2565" "199" "2565" "199" "c.2565+199G>T" "r.(=)" "p.(=)" "" "" "" "0000996762" "00005456" "50" "2569" "0" "2569" "0" "c.2569C>T" "r.(?)" "p.(Pro857Ser)" "" "" "" "0000996763" "00005456" "30" "2896" "0" "2896" "0" "c.2896C>T" "r.(?)" "p.(His966Tyr)" "" "" "" "0000996764" "00005456" "50" "3274" "0" "3274" "0" "c.3274C>T" "r.(?)" "p.(Pro1092Ser)" "" "" "" "0000996765" "00005456" "50" "3368" "0" "3368" "0" "c.3368G>C" "r.(?)" "p.(Arg1123Pro)" "" "" "" "0000996766" "00005456" "30" "3506" "0" "3506" "0" "c.3506G>A" "r.(?)" "p.(Ser1169Asn)" "" "" "" "0000996767" "00005456" "50" "3706" "0" "3706" "0" "c.3706A>G" "r.(?)" "p.(Ser1236Gly)" "" "" "" "0001007099" "00005456" "50" "647" "0" "647" "0" "c.647G>A" "r.(?)" "p.(Arg216His)" "" "" "" "0001007465" "00005456" "70" "3490" "0" "3490" "0" "c.3490C>T" "r.(?)" "p.(Arg1164Cys)" "" "" "" "0001007466" "00005456" "70" "3493" "0" "3493" "0" "c.3493G>A" "r.(?)" "p.(Asp1165Asn)" "" "" "" "0001007467" "00005456" "70" "830" "0" "830" "0" "c.830G>C" "r.(?)" "p.(Gly277Ala)" "" "" "" "0001007468" "00005456" "70" "490" "0" "490" "0" "c.490G>A" "r.(?)" "p.(Ala164Thr)" "" "" "" "0001007469" "00005456" "70" "2122" "0" "2122" "0" "c.2122C>T" "r.(?)" "p.(Arg708Trp)" "" "" "" "0001007470" "00005456" "70" "2465" "0" "2465" "0" "c.2465G>A" "r.(?)" "p.(Arg822His)" "" "" "" "0001011776" "00005456" "90" "2314" "0" "2314" "0" "c.2314G>A" "r.(?)" "p.(Gly772Ser)" "" "" "" "0001014392" "00005456" "30" "2566" "-6" "2566" "-6" "c.2566-6A>G" "r.(=)" "p.(=)" "" "" "" "0001021674" "00005456" "30" "256" "0" "256" "0" "c.256G>C" "r.(?)" "p.(Val86Leu)" "" "" "" "0001022133" "00005456" "50" "2403" "3" "2403" "3" "c.2403+3A>G" "r.2403_2404=" "p.=" "39i" "" "" "0001025443" "00005456" "50" "464" "0" "464" "0" "c.464A>C" "r.(?)" "p.(Glu155Ala)" "" "" "" "0001025444" "00005456" "30" "640" "-88" "640" "-88" "c.640-88C>T" "r.(=)" "p.(=)" "" "" "" "0001025445" "00005456" "30" "948" "0" "948" "0" "c.948C>T" "r.(?)" "p.(=)" "" "" "" "0001025446" "00005456" "30" "1036" "-12" "1036" "-12" "c.1036-12A>G" "r.(=)" "p.(=)" "" "" "" "0001025447" "00005456" "90" "1045" "0" "1045" "0" "c.1045G>T" "r.(?)" "p.(Gly349Cys)" "" "" "" "0001025448" "00005456" "50" "1268" "0" "1268" "0" "c.1268G>A" "r.(?)" "p.(Arg423His)" "" "" "" "0001025449" "00005456" "50" "1277" "0" "1277" "0" "c.1277G>A" "r.(?)" "p.(Ser426Asn)" "" "" "" "0001025450" "00005456" "30" "1947" "0" "1947" "0" "c.1947C>A" "r.(?)" "p.(=)" "" "" "" "0001025451" "00005456" "50" "2123" "0" "2123" "0" "c.2123G>A" "r.(?)" "p.(Arg708Gln)" "" "" "" "0001025452" "00005456" "50" "2425" "0" "2425" "0" "c.2425C>T" "r.(?)" "p.(Pro809Ser)" "" "" "" "0001025453" "00005456" "30" "2566" "-6" "2566" "-6" "c.2566-6A>G" "r.(=)" "p.(=)" "" "" "" "0001025454" "00005456" "50" "3313" "0" "3313" "0" "c.3313G>A" "r.(?)" "p.(Gly1105Ser)" "" "" "" "0001036586" "00005456" "30" "96" "10" "96" "10" "c.96+10C>T" "r.(=)" "p.(=)" "" "" "" "0001036587" "00005456" "50" "382" "0" "382" "0" "c.382C>T" "r.(?)" "p.(Pro128Ser)" "" "" "" "0001036588" "00005456" "50" "593" "0" "593" "0" "c.593A>G" "r.(?)" "p.(Lys198Arg)" "" "" "" "0001036589" "00005456" "50" "644" "0" "644" "0" "c.644C>T" "r.(?)" "p.(Ala215Val)" "" "" "" "0001036590" "00005456" "50" "980" "0" "980" "0" "c.980G>A" "r.(?)" "p.(Arg327His)" "" "" "" "0001036591" "00005456" "30" "993" "0" "993" "0" "c.993C>T" "r.(?)" "p.(Gly331=)" "" "" "" "0001036592" "00005456" "70" "1199" "0" "1199" "0" "c.1199G>C" "r.(?)" "p.(Gly400Ala)" "" "" "" "0001036593" "00005456" "50" "1221" "0" "1222" "0" "c.1221_1222delinsCT" "r.(?)" "p.(Pro408Ser)" "" "" "" "0001036594" "00005456" "50" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Pro408Ser)" "" "" "" "0001036595" "00005456" "50" "1771" "0" "1771" "0" "c.1771C>T" "r.(?)" "p.(Arg591Cys)" "" "" "" "0001036596" "00005456" "30" "1876" "0" "1876" "0" "c.1876G>A" "r.(?)" "p.(Val626Met)" "" "" "" "0001036597" "00005456" "30" "1972" "-7" "1972" "-7" "c.1972-7C>T" "r.(=)" "p.(=)" "" "" "" "0001036598" "00005456" "50" "2141" "0" "2141" "0" "c.2141G>A" "r.(?)" "p.(Arg714His)" "" "" "" "0001036599" "00005456" "50" "2168" "0" "2168" "0" "c.2168A>T" "r.(?)" "p.(Asn723Ile)" "" "" "" "0001036600" "00005456" "50" "2221" "0" "2221" "0" "c.2221A>G" "r.(?)" "p.(Arg741Gly)" "" "" "" "0001036601" "00005456" "50" "3481" "0" "3481" "0" "c.3481C>T" "r.(?)" "p.(Arg1161Cys)" "" "" "" "0001045331" "00005456" "90" "3754" "0" "3754" "0" "c.3754A>G" "r.(?)" "p.(Thr1252Ala)" "51" "missense" "" "0001046132" "00005456" "50" "2330" "0" "2330" "0" "c.2330G>A" "r.(?)" "p.(Arg777His)" "" "" "" "0001046133" "00005456" "50" "3879" "0" "3879" "0" "c.3879G>T" "r.(?)" "p.(Gln1293His)" "" "" "" "0001047776" "00005456" "90" "2755" "0" "2755" "0" "c.2755G>A" "r.(?)" "p.(Gly919Ser)" "" "" "" "0001048264" "00005456" "70" "352" "0" "352" "0" "c.352G>C" "r.(?)" "p.(Gly118Arg)" "" "" "" "0001048265" "00005456" "90" "577" "0" "577" "0" "c.577G>A" "r.(?)" "p.(Gly193Ser)" "" "" "" "0001048266" "00005456" "90" "739" "-2" "739" "-2" "c.739-2A>G" "r.spl" "p.?" "" "" "" "0001048267" "00005456" "70" "829" "0" "829" "0" "c.829G>C" "r.(?)" "p.(Gly277Arg)" "" "" "" "0001048268" "00005456" "90" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "" "" "" "0001048269" "00005456" "90" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Ser)" "" "" "" "0001048270" "00005456" "70" "998" "0" "1006" "0" "c.998_1006dup" "r.(?)" "p.(Val333_Ala335dup)" "" "" "" "0001048271" "00005456" "90" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Gly337Ser)" "" "" "" "0001048272" "00005456" "70" "1144" "0" "1144" "0" "c.1144G>A" "r.(?)" "p.(Gly382Ser)" "" "" "" "0001048273" "00005456" "90" "1477" "0" "1477" "0" "c.1477G>A" "r.(?)" "p.(Gly493Arg)" "" "" "" "0001048274" "00005456" "90" "1801" "0" "1801" "0" "c.1801G>A" "r.(?)" "p.(Gly601Ser)" "" "" "" "0001048275" "00005456" "90" "1801" "0" "1801" "0" "c.1801G>A" "r.(?)" "p.(Gly601Ser)" "" "" "" "0001048276" "00005456" "90" "2252" "0" "2252" "0" "c.2252G>T" "r.(?)" "p.(Gly751Val)" "" "" "" "0001048277" "00005456" "70" "2261" "0" "2261" "0" "c.2261G>A" "r.(?)" "p.(Gly754Asp)" "" "" "" "0001048278" "00005456" "70" "2314" "0" "2314" "0" "c.2314G>T" "r.(?)" "p.(Gly772Cys)" "" "" "" "0001048279" "00005456" "70" "2441" "0" "2441" "0" "c.2441G>A" "r.(?)" "p.(Gly814Glu)" "" "" "" "0001048280" "00005456" "90" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Gly931Arg)" "" "" "" "0001048281" "00005456" "90" "2960" "0" "2968" "0" "c.2960_2968dup" "r.(?)" "p.(Val987_Pro989dup)" "" "" "" "0001048282" "00005456" "90" "3034" "0" "3034" "0" "c.3034G>A" "r.(?)" "p.(Gly1012Ser)" "" "" "" "0001048283" "00005456" "90" "3581" "0" "3587" "0" "c.3581_3587del" "r.(?)" "p.(Tyr1194PhefsTer33)" "" "" "" "0001048284" "00005456" "70" "980" "0" "980" "0" "c.980G>A" "r.(?)" "p.(Arg327His)" "" "" "" "0001052727" "00005456" "50" "279" "9" "279" "9" "c.279+9A>C" "r.(=)" "p.(=)" "" "" "" "0001052728" "00005456" "50" "1277" "0" "1277" "0" "c.1277G>A" "r.(?)" "p.(Ser426Asn)" "" "" "" "0001052729" "00005456" "50" "1453" "0" "1453" "0" "c.1453G>A" "r.(?)" "p.(Ala485Thr)" "" "" "" "0001052730" "00005456" "50" "2489" "0" "2489" "0" "c.2489G>A" "r.(?)" "p.(Arg830Gln)" "" "" "" "0001052731" "00005456" "90" "3034" "0" "3034" "0" "c.3034G>A" "r.(?)" "p.(Gly1012Ser)" "" "" "" "0001052732" "00005456" "50" "3226" "0" "3226" "0" "c.3226C>A" "r.(?)" "p.(Pro1076Thr)" "" "" "" "0001052733" "00005456" "50" "3404" "0" "3404" "0" "c.3404T>C" "r.(?)" "p.(Val1135Ala)" "" "" "" "0001052734" "00005456" "30" "3673" "0" "3673" "0" "c.3673C>T" "r.(?)" "p.(His1225Tyr)" "" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1531 "{{screeningid}}" "{{variantid}}" "0000081033" "0000130119" "0000104483" "0000169340" "0000106389" "0000171993" "0000132715" "0000221899" "0000132900" "0000222082" "0000132901" "0000222083" "0000132902" "0000222084" "0000133608" "0000222849" "0000266852" "0000597679" "0000266855" "0000597682" "0000266856" "0000597683" "0000266861" "0000597688" "0000266862" "0000597689" "0000266863" "0000597691" "0000266864" "0000597692" "0000295684" "0000652373" "0000295685" "0000652374" "0000295686" "0000652375" "0000301054" "0000663949" "0000301055" "0000663950" "0000301077" "0000663972" "0000301078" "0000663973" "0000301079" "0000663974" "0000301080" "0000663975" "0000301081" "0000663976" "0000301082" "0000663977" "0000301083" "0000663978" "0000301084" "0000663979" "0000301085" "0000663980" "0000301086" "0000663981" "0000301087" "0000663982" "0000301088" "0000663983" "0000301089" "0000663984" "0000301090" "0000663985" "0000301091" "0000663986" "0000301092" "0000663987" "0000301093" "0000663988" "0000301094" "0000663989" "0000301095" "0000663990" "0000301096" "0000663991" "0000301485" "0000664435" "0000301486" "0000664436" "0000301487" "0000664437" "0000301488" "0000664438" "0000301489" "0000664439" "0000301490" "0000664440" "0000301491" "0000664441" "0000301492" "0000664442" "0000301493" "0000664443" "0000301494" "0000664515" "0000301526" "0000664484" "0000301527" "0000664485" "0000301528" "0000664486" "0000301529" "0000664487" "0000301530" "0000664488" "0000301531" "0000664489" "0000301532" "0000664490" "0000301533" "0000664491" "0000301534" "0000664492" "0000301535" "0000664493" "0000301536" "0000664494" "0000301537" "0000664495" "0000301538" "0000664496" "0000301539" "0000664497" "0000301540" "0000664498" "0000301541" "0000664499" "0000301542" "0000664500" "0000301543" "0000664501" "0000301544" "0000664502" "0000307241" "0000673883" "0000321353" "0000704182" "0000321756" "0000833452" "0000321763" "0000833451" "0000324013" "0000706967" "0000324014" "0000706968" "0000324015" "0000706969" "0000324015" "0000707554" "0000324016" "0000706970" "0000324017" "0000706971" "0000324018" "0000706972" "0000324019" "0000706973" "0000324020" "0000706974" "0000324021" "0000706975" "0000324022" "0000706976" "0000324023" "0000706977" "0000324024" "0000706978" "0000324025" "0000706979" "0000324026" "0000706980" "0000324027" "0000706981" "0000324028" "0000706982" "0000324029" "0000706983" "0000324030" "0000706984" "0000324031" "0000706985" "0000324032" "0000706986" "0000324033" "0000706987" "0000324034" "0000706988" "0000324035" "0000706989" "0000324036" "0000706990" "0000324037" "0000706991" "0000324038" "0000706992" "0000324039" "0000706993" "0000324040" "0000706994" "0000324041" "0000706995" "0000324042" "0000706996" "0000324043" "0000706997" "0000324044" "0000706998" "0000324045" "0000706999" "0000324046" "0000707000" "0000324047" "0000707001" "0000324048" "0000707002" "0000324049" "0000707003" "0000324050" "0000707004" "0000324051" "0000707005" "0000324051" "0000707074" "0000324052" "0000707006" "0000324053" "0000707007" "0000324054" "0000707008" "0000324055" "0000707009" "0000324056" "0000707010" "0000324058" "0000707012" "0000324059" "0000707013" "0000324060" "0000707014" "0000324061" "0000707015" "0000324062" "0000707016" "0000324063" "0000707017" "0000324064" "0000707018" "0000324065" "0000707019" "0000324066" "0000707020" "0000324067" "0000707021" "0000324068" "0000707022" "0000324069" "0000707023" "0000324070" "0000707024" "0000324071" "0000707025" "0000324072" "0000707026" "0000324073" "0000707027" "0000324074" "0000707028" "0000324075" "0000707029" "0000324076" "0000707030" "0000324077" "0000707031" "0000324078" "0000707032" "0000324079" "0000707033" "0000324080" "0000707034" "0000324081" "0000707035" "0000324082" "0000707036" "0000324083" "0000707037" "0000324084" "0000707038" "0000324085" "0000707039" "0000324086" "0000707040" "0000324087" "0000707041" "0000324088" "0000707042" "0000324089" "0000707043" "0000324090" "0000707044" "0000324091" "0000707045" "0000324092" "0000707046" "0000324093" "0000707047" "0000324094" "0000707048" "0000324095" "0000707049" "0000324096" "0000707050" "0000324097" "0000707051" "0000324097" "0000707555" "0000324098" "0000707052" "0000324099" "0000707053" "0000324100" "0000707054" "0000324101" "0000707055" "0000324102" "0000707056" "0000324103" "0000707057" "0000324104" "0000707058" "0000324105" "0000707059" "0000324106" "0000707060" "0000324107" "0000707061" "0000324108" "0000707062" "0000324109" "0000707063" "0000324110" "0000707064" "0000324111" "0000707065" "0000324112" "0000707066" "0000324113" "0000707067" "0000324114" "0000707068" "0000324115" "0000707069" "0000324116" "0000707070" "0000324117" "0000707071" "0000324118" "0000707072" "0000324119" "0000707073" "0000324120" "0000707075" "0000324121" "0000707076" "0000324122" "0000707077" "0000324123" "0000707078" "0000324124" "0000707079" "0000324125" "0000707080" "0000324126" "0000707081" "0000324127" "0000707082" "0000324128" "0000707083" "0000324129" "0000707084" "0000324130" "0000707085" "0000324131" "0000707086" "0000324132" "0000707087" "0000324133" "0000707088" "0000324134" "0000707089" "0000324134" "0000707826" "0000324135" "0000707090" "0000324136" "0000707091" "0000324137" "0000707092" "0000324138" "0000707093" "0000324139" "0000707094" "0000324140" "0000707095" "0000324141" "0000707096" "0000324142" "0000707097" "0000324143" "0000707098" "0000324144" "0000707099" "0000324145" "0000707100" "0000324146" "0000707101" "0000324147" "0000707102" "0000324148" "0000707103" "0000324149" "0000707104" "0000324150" "0000707105" "0000324151" "0000707106" "0000324152" "0000707107" "0000324153" "0000707108" "0000324154" "0000707109" "0000324155" "0000707110" "0000324156" "0000707111" "0000324157" "0000707112" "0000324157" "0000876712" "0000324158" "0000707113" "0000324159" "0000707114" "0000324160" "0000707115" "0000324161" "0000707116" "0000324162" "0000707117" "0000324163" "0000707118" "0000324164" "0000707119" "0000324165" "0000707120" "0000324166" "0000707121" "0000324167" "0000707122" "0000324168" "0000707123" "0000324169" "0000707124" "0000324170" "0000707125" "0000324171" "0000707126" "0000324172" "0000707127" "0000324173" "0000707128" "0000324174" "0000707129" "0000324175" "0000707130" "0000324176" "0000707131" "0000324177" "0000707132" "0000324178" "0000707133" "0000324179" "0000707134" "0000324180" "0000707135" "0000324181" "0000707136" "0000324182" "0000707137" "0000324183" "0000707138" "0000324184" "0000707139" "0000324185" "0000707140" "0000324186" "0000707141" "0000324187" "0000707142" "0000324188" "0000707143" "0000324189" "0000707144" "0000324190" "0000707145" "0000324191" "0000707146" "0000324192" "0000707147" "0000324193" "0000707148" "0000324194" "0000707149" "0000324195" "0000707150" "0000324196" "0000707151" "0000324197" "0000707152" "0000324198" "0000707153" "0000324199" "0000707154" "0000324200" "0000707155" "0000324201" "0000707156" "0000324202" "0000707157" "0000324203" "0000707158" "0000324204" "0000707159" "0000324205" "0000707160" "0000324206" "0000707161" "0000324207" "0000707162" "0000324208" "0000707163" "0000324209" "0000707164" "0000324210" "0000707165" "0000324211" "0000707166" "0000324212" "0000707167" "0000324213" "0000707168" "0000324214" "0000707169" "0000324215" "0000707170" "0000324216" "0000707171" "0000324217" "0000707172" "0000324218" "0000707173" "0000324219" "0000707174" "0000324220" "0000707175" "0000324221" "0000707176" "0000324222" "0000707177" "0000324223" "0000707178" "0000324224" "0000707179" "0000324225" "0000707180" "0000324226" "0000707181" "0000324227" "0000707182" "0000324228" "0000707183" "0000324229" "0000707184" "0000324230" "0000707185" "0000324231" "0000707186" "0000324232" "0000707187" "0000324233" "0000707188" "0000324234" "0000707189" "0000324235" "0000707190" "0000324236" "0000707191" "0000324237" "0000707192" "0000324238" 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