### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = EXT2) # 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}}" "EXT2" "exostosin 2" "11" "p12-p11" "unknown" "NG_007560.1" "UD_132118336612" "" "https://www.LOVD.nl/EXT2" "GeneTests " "1" "3513" "2132" "608210" "1" "1" "1" "1" " The Multiple Osteochondroma Mutation Database for EXT2 was initiated with the support of the EuroBoNeT consortium, a European Commission granted Network of Excellence for studying the pathology and genetics of bone tumours." "" "g" "http://databases.lovd.nl/shared/refseq/EXT2_codingDNA.html" "1" "" " A Multiple Osteochondroma Mutation Database" "-1" "" "-1" "00001" "2008-12-06 00:00:00" "00006" "2017-06-13 10:49:34" "00006" "2025-09-23 14:50:41" ## 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}}" "00025230" "EXT2" "exostosin glycosyltransferase 2, transcript variant 2" "002" "NM_207122.1" "" "NP_997005.1" "" "" "" "-334" "3300" "2157" "44117099" "44266980" "00008" "2017-09-04 20:35:51" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01326" "EXT2" "exostoses, multiple, type 2 (EXT-2)" "AD" "133701" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01711" "chondrosarcoma" "chondrosarcoma" "AR" "215300" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04184" "stature, short" "stature, short" "" "" "" "" "" "00006" "2015-02-09 15:44:22" "00006" "2015-02-09 15:45:17" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05234" "CM1" "malformation, Chiari, type I (CM-1)" "" "118420" "" "" "" "00006" "2017-03-06 20:17:57" "00006" "2021-12-10 21:51:32" "05282" "SSMS" "seizures, scoliosis, and macrocephaly syndrome (SSMS)" "AR" "616682" "" "" "" "00006" "2017-06-12 11:50:22" "00006" "2021-12-10 21:51:32" "05318" "MO" "osteochondromas, multiple (MO)" "" "" "bones (skeleton)" "" "" "00008" "2017-08-30 14:12:51" "00006" "2017-12-01 19:07:17" "05804" "EXT" "exostoses, multiple (EXT)" "" "" "" "" "" "00006" "2020-08-07 09:19:00" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "EXT2" "01326" "EXT2" "01711" "EXT2" "05282" "EXT2" "05804" ## Individuals ## Do not remove or alter this header ## ## Count = 476 "{{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}}" "00100647" "" "" "" "2" "" "01926" "" "" "M" "no" "(Italy)" "" "0" "yes" "surgery of cranial posterior fossa" "white" "@DRN" "00118681" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "" "" "0" "" "" "" "" "00118682" "" "" "" "1" "" "02210" "{PMID12239711:Hall, 2002}" "" "" "" "" "" "0" "" "" "" "" "00118683" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Germany" "" "0" "" "" "" "" "00118684" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118685" "" "" "" "1" "" "02152" "Bakker, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118686" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "United States" "" "0" "" "" "" "" "00118687" "" "" "" "1" "" "02210" "{PMID18373409: Leube, 2008}" "" "" "" "" "" "0" "" "" "" "" "00118688" "" "" "" "1" "" "02210" "{PMID18165274:Jennes, 2008}" "" "" "" "United States" "" "0" "" "" "" "" "00118689" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Spain" "" "0" "" "" "" "" "00118690" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Macedonia" "" "0" "" "" "" "" "00118691" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Spain" "" "0" "" "" "" "" "00118692" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "" "" "0" "" "" "" "" "00118693" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "" "" "0" "" "" "" "" "00118694" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "" "" "0" "" "" "" "" "00118695" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "" "" "0" "" "" "" "" "00118696" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "" "" "0" "" "" "" "" "00118697" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "" "" "0" "" "" "" "" "00118698" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "" "" "0" "" "" "" "" "00118699" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "" "" "0" "" "" "" "" "00118700" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "" "" "0" "" "" "" "" "00118701" "" "" "" "1" "" "02210" "{PMID15221792:White, 2004}" "" "" "" "" "" "0" "" "" "" "" "00118702" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Belgium" "" "0" "" "" "" "" "00118703" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "M" "" "" "" "0" "" "" "" "" "00118704" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Bulgaria" "" "0" "" "" "" "" "00118705" "" "" "" "1" "" "02210" "{PMID17301954:Signori, 2007}" "" "" "" "Italy" "" "0" "" "" "" "" "00118706" "" "" "" "1" "" "02210" "{PMID9326317:Philippe, 1997}" "" "" "" "" "" "0" "" "" "" "" "00118707" "" "" "" "1" "" "02210" "{PMID18373409: Leube, 2008}" "" "" "" "" "" "0" "" "" "" "" "00118708" "" "" "" "1" "" "02210" "{PMID9463333:Wuyts, 1998}" "4 patients, Same family as in Mollica, 1984: Some patients also have brachydactyly & anetoderma." "" "" "Italy" "" "0" "" "" "white" "" "00118709" "" "" "" "1" "" "02210" "{PMID11668521:Gigante, 2001}" "2 generations, 1 patient" "" "" "Italy" "" "0" "" "" "white" "" "00118710" "" "" "" "1" "" "02210" "{PMID16088908:Pedrini, 2005}" "" "" "" "Italy" "" "0" "" "" "" "" "00118711" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00118712" "" "" "" "1" "" "02210" "{PMID17301954:Signori, 2007}" "" "" "" "Italy" "" "0" "" "" "" "" "00118713" "" "" "" "1" "" "02210" "{PMID17301954:Signori, 2007}" "" "" "" "Italy" "" "0" "" "" "" "" "00118714" "" "" "" "1" "" "02210" "{PMID17301954:Signori, 2007}" "" "" "" "Italy" "" "0" "" "" "" "" "00118715" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00118716" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "United States" "" "0" "" "" "" "" "00118717" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118718" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118719" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118720" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118721" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118722" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118723" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118724" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "M" "" "Italy" "" "0" "" "" "" "" "00118725" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "M" "" "Italy" "" "0" "" "" "" "" "00118726" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "M" "" "Italy" "" "0" "" "" "" "" "00118727" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "M" "" "Italy" "" "0" "" "" "" "" "00118728" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "M" "" "Italy" "" "0" "" "" "" "" "00118729" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "F" "" "Italy" "" "0" "" "" "" "" "00118730" "" "" "" "1" "" "02210" "{PMID9326317:Philippe, 1997}" "3 generations, 4 patients" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00118731" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118732" "" "" "" "1" "" "02210" "{PMID14654969:Vujic, 2004}" "7 generations, 170 relatives, 38 patients2 with chondrosarcoma, 8 isolated exostosis, but without the c.112_113del" "" "" "" "" "0" "" "" "" "" "00118733" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Tunisia" "" "0" "" "" "" "" "00118734" "" "" "" "1" "" "02210" "{PMID:Dobson-Stone 2000:10713884}" "" "" "" "" "" "0" "" "" "white" "" "00118735" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00118736" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118737" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "M" "" "Italy" "" "0" "" "" "" "" "00118738" "" "" "" "1" "" "02210" "{PMID18165274:Jennes, 2008}" "" "" "" "Switzerland" "" "0" "" "" "white" "" "00118739" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00118740" "" "" "" "1" "" "02210" "{PMID15586175:Vink, 2004}" "" "" "" "" "" "0" "" "" "white" "" "00118741" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Netherlands" "" "0" "" "" "" "" "00118742" "" "" "" "1" "" "02210" "{PMID11170095:Seki, 2001}" "3 patient" "" "" "Japan" "" "0" "" "" "Asian" "" "00118743" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Greece" "" "0" "" "" "white" "" "00118744" "" "" "" "1" "" "02210" "{PMID10679937:Wuyts, 2000}" "Data from Raskind, unpublished" "" "" "" "" "0" "" "" "" "" "00118745" "" "" "" "1" "" "02210" "{PMID18666861:Liu, 2008}" "5 patients in family, 3 generations" "" "" "China" "" "0" "" "" "Asian" "" "00118746" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118747" "" "" "" "1" "" "02210" "{PMID16088908:Pedrini, 2005}" "" "" "" "Italy" "" "0" "" "" "" "" "00118748" "" "" "" "1" "" "02210" "{PMID10429361:Park, 1999}" "" "" "" "Korea" "" "0" "" "" "" "" "00118749" "" "" "" "1" "" "02210" "{PMID18165274:Jennes, 2008}" "" "" "" "" "" "0" "" "" "" "" "00118750" "" "" "" "1" "" "02210" "{PMID10679937:Wuyts, 2000}" "Data from Raskind, unpublished" "" "" "" "" "0" "" "" "" "" "00118751" "" "" "" "1" "" "02210" "{PMID10480354:Xu, 1999}" "5 patients" "" "" "China" "" "0" "" "" "Asian" "" "00118752" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118753" "" "" "" "1" "" "02210" "{PMID10480354:Xu, 1999}" "5 patients" "" "" "China" "" "0" "" "" "Asian" "" "00118754" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118755" "" "" "" "1" "" "02210" "{PMID10480354:Xu, 1999}" "1 patient" "" "" "China" "" "0" "" "" "Asian" "" "00118756" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00118757" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Belgium" "" "0" "" "" "" "" "00118758" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118759" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Bulgaria" "" "0" "" "" "" "" "00118760" "" "" "" "1" "" "02210" "{PMID11170095:Seki, 2001}" "1 patient" "" "" "Japan" "" "0" "" "" "Asian" "" "00118761" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "" "" "0" "" "" "" "" "00118762" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118763" "" "" "" "1" "" "02210" "{PMID19839753:Li, 2009}" "" "" "" "China" "" "0" "" "" "China" "" "00118764" "" "" "" "1" "" "02152" "Bakker, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118765" "" "" "" "1" "" "02172" "" "" "M" "" "" "" "0" "" "" "" "" "00118766" "" "" "" "1" "" "02152" "Bakker, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118767" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "" "" "0" "" "" "" "" "00118768" "" "" "" "1" "" "02210" "{PMID18165274:Jennes, 2008}" "" "" "" "" "" "0" "" "" "" "" "00118769" "" "" "" "1" "" "02210" "{PMID8782816:Stickens, 1996}" "3 generations, 8 patientsHecht, 1995" "" "" "" "" "0" "" "" "" "" "00118770" "" "" "" "1" "" "02210" "{PMID:Dobson-Stone 2000:10713884}" "" "" "" "" "" "0" "" "" "white" "" "00118771" "" "" "" "1" "" "02210" "{PMID:Dobson-Stone 2000:10713884}" "" "" "" "" "" "0" "" "" "white" "" "00118772" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118773" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118774" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118775" "" "" "" "1" "" "02218" "" "shanxi" "" "" "China" "" "0" "" "" "Han-Chinese" "" "00118776" "" "" "" "1" "" "02210" "{PMID10480354:Xu, 1999}" "4 patients" "" "" "China" "" "0" "" "" "Asian" "" "00118777" "" "" "" "1" "" "02210" "{PMID:Pei 2010:21039224}" "" "" "" "China" "" "0" "" "" "" "" "00118778" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Belgium" "" "0" "" "" "" "" "00118779" "" "" "" "1" "" "02210" "{PMID16088908:Pedrini, 2005}" "" "" "" "Italy" "" "0" "" "" "" "" "00118780" "" "" "" "1" "" "02210" "{PMID16879194:Alvarez, 2006}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00118781" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118782" "" "" "" "1" "" "02210" "{PMID19344451:Heinritz, 2009}" "" "" "" "Germany" "" "0" "" "" "" "" "00118783" "" "" "" "1" "" "02210" "{PMID18165274:Jennes, 2008}" "" "" "" "Spain" "" "0" "" "" "" "" "00118784" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Belgium" "" "0" "" "" "" "" "00118785" "" "" "" "1" "" "02210" "{PMID10480354:Xu, 1999}" "2 patients" "" "" "China" "" "0" "" "" "Asian" "" "00118786" "" "" "" "1" "" "02210" "{PMID18294062:Liu, 2007}" "" "" "" "China" "" "0" "" "" "Asian" "" "00118787" "" "" "" "1" "" "02210" "{PMID18294062:Liu, 2007}" "" "" "" "China" "" "0" "" "" "Asian" "" "00118788" "" "" "" "1" "" "02213" "Casey, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118789" "" "" "" "1" "" "02210" "{PMID17589361:Alvarez, 2007}" "" "" "" "" "" "0" "" "" "" "" "00118790" "" "" "" "1" "" "02210" "{PMID8894688:Wuyts, 1996}" "16 patientsFamily 2 in Wu, 1994" "F" "" "Belgium" "" "0" "" "" "white" "" "00118791" "" "" "" "1" "" "02210" "{PMID8894688:Wuyts, 1996}" "1 patient" "F" "" "France" "" "0" "" "" "white" "" "00118792" "" "" "" "1" "" "02210" "{PMID10480354:Xu, 1999}" "9 patients" "" "" "China" "" "0" "" "" "Asian" "" "00118793" "" "" "" "1" "" "02210" "{PMID16638657:Chen, 2006}" "3 generations, 3 patients" "" "" "Taiwan" "" "0" "" "" "Asian" "" "00118794" "" "" "" "1" "" "02210" "{PMID11432960:Francannet, 2001}" "5 patients in family" "" "" "France" "" "0" "" "" "" "" "00118795" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Germany" "" "0" "" "" "" "" "00118796" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118797" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118798" "" "" "" "1" "" "02213" "Casey, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118799" "" "" "" "1" "" "02213" "Casey, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118800" "" "" "" "1" "" "02210" "{PMID17589361:Alvarez, 2007}" "" "" "" "" "" "0" "" "" "" "" "00118801" "" "" "" "1" "" "02210" "{PMID19344451:Heinritz, 2009}" "" "" "" "Germany" "" "0" "" "" "" "" "00118802" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "" "" "0" "" "" "" "" "00118803" "" "" "" "1" "" "02210" "{PMID:Dobson-Stone 2000:10713884}" "" "" "" "" "" "0" "" "" "white" "" "00118804" "" "" "" "1" "" "02210" "{PMID15586175:Vink, 2004}" "" "" "" "" "" "0" "" "" "white" "" "00118805" "" "" "" "1" "" "02210" "{PMID15586175:Vink, 2004}" "" "" "" "" "" "0" "" "" "white" "" "00118806" "" "" "" "1" "" "02210" "{PMID:Dobson-Stone 2000:10713884}" "" "" "" "" "" "0" "" "" "white" "" "00118807" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118808" "" "" "" "1" "" "02210" "{PMID20140877:Yao, 2010}" "" "" "" "China" "" "0" "" "" "China" "" "00118809" "" "" "" "1" "" "02213" "Casey, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118810" "" "" "" "1" "" "02210" "{PMID15586175:Vink, 2004}" "" "" "" "" "" "0" "" "" "white" "" "00118811" "" "" "" "1" "" "02210" "{PMID:Dobson-Stone 2000:10713884}" "" "" "" "" "" "0" "" "" "white" "" "00118812" "" "" "" "1" "" "02210" "{PMID15079787:Hu, 2004}" "" "" "" "China" "" "0" "" "" "Asian" "" "00118813" "" "" "" "1" "" "02152" "Bakker, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118814" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118815" "" "" "" "1" "" "02210" "{PMID:Dobson-Stone 2000:10713884}" "" "" "" "" "" "0" "" "" "white" "" "00118816" "" "" "" "1" "" "02210" "{PMID15079787:Hu, 2004}" "" "" "" "China" "" "0" "" "" "Asian" "" "00118817" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00118818" "" "" "" "1" "" "02210" "{PMID18067075:Zhang, 2007}" "" "" "" "" "" "0" "" "" "" "" "00118819" "" "" "" "1" "" "02210" "{PMID9326317:Philippe, 1997}" "" "" "" "" "" "0" "" "" "" "" "00118820" "" "" "" "1" "" "02210" "{PMID19344451:Heinritz, 2009}" "" "" "" "Germany" "" "0" "" "" "" "" "00118821" "" "" "" "1" "" "02210" "{PMID11170095:Seki, 2001}" "1 patient" "" "" "Japan" "" "0" "" "" "Asian" "" "00118822" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00118823" "" "" "" "1" "" "02210" "{PMID11432960:Francannet, 2001}" "5 patients in family" "" "" "France" "" "0" "" "" "" "" "00118824" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Sweden" "" "0" "" "" "" "" "00118825" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "F" "" "" "" "0" "" "" "Bulgarian" "" "00118826" "" "" "" "1" "" "02210" "{PMID:Dobson-Stone 2000:10713884}" "" "" "" "" "" "0" "" "" "white" "" "00118827" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "" "" "0" "" "" "white" "" "00118828" "" "" "" "1" "" "02210" "{PMID15586175:Vink, 2004}" "" "" "" "" "" "0" "" "" "white" "" "00118829" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118830" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118831" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118832" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118833" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118834" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118835" "" "" "" "1" "" "02213" "Casey, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118836" "" "" "" "1" "" "02210" "{PMID17589361:Alvarez, 2007}" "" "" "" "" "" "0" "" "" "" "" "00118837" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "M" "" "Italy" "" "0" "" "" "" "" "00118838" "" "" "" "36" "" "02210" "{PMID:Xiao 2001:11461073}" "6 generations, 38 patients, 4 with chondrosarcoma" "" "" "China" "" "0" "" "" "Asian" "" "00118839" "" "" "" "1" "" "02210" "{PMID:Pei 2010:21039224}" "" "" "" "China" "" "0" "" "" "" "" "00118840" "" "" "" "1" "" "02152" "Bakker, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118841" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118842" "" "" "" "1" "" "02210" "{PMID16638657:Chen, 2006}" "1 patient" "" "" "Taiwan" "" "0" "" "" "Asian" "" "00118843" "" "" "" "1" "" "02210" "{PMID11432960:Francannet, 2001}" "10 patients in family" "" "" "France" "" "0" "" "" "" "" "00118844" "" "" "" "1" "" "02214" "Asteggiano, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118845" "" "" "" "1" "" "02214" "Asteggiano, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118846" "" "" "" "1" "" "02210" "{PMID11170095:Seki, 2001}" "1 patient" "" "" "Japan" "" "0" "" "" "Asian" "" "00118847" "" "" "" "1" "" "02210" "{PMID17301954:Signori, 2007}" "" "" "" "Italy" "" "0" "" "" "" "" "00118848" "" "" "" "1" "" "02210" "{PMID11432960:Francannet, 2001}" "2 patients in family" "" "" "France" "" "0" "" "" "" "" "00118849" "" "" "" "1" "" "02210" "{PMID15586175:Vink, 2004}" "" "" "" "" "" "0" "" "" "white" "" "00118850" "" "" "" "1" "" "02152" "Bakker, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118851" "" "" "" "1" "" "02210" "{PMID15586175:Vink, 2004}" "" "" "" "" "" "0" "" "" "white" "" "00118852" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Netherlands" "" "0" "" "" "" "" "00118853" "" "" "" "1" "" "02215" "" "" "M" "" "" "" "0" "" "" "white" "" "00118854" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00118855" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118856" "" "" "" "1" "" "02210" "{PMID11668521:Gigante, 2001}" "4 generations, 7 patients" "" "" "Italy" "" "0" "" "" "white" "" "00118857" "" "" "" "1" "" "02213" "Casey, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118858" "" "" "" "1" "" "02210" "{PMID10480354:Xu, 1999}" "1 patient" "" "" "China" "" "0" "" "" "Asian" "" "00118859" "" "" "" "1" "" "02210" "{PMID9463333:Wuyts, 1998}" "" "" "" "United States" "" "0" "" "" "" "" "00118860" "" "" "" "1" "" "02210" "{PMID15586175:Vink, 2004}" "" "" "" "" "" "0" "" "" "white" "" "00118861" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118862" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118863" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118864" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "F" "" "France" "" "0" "" "" "" "" "00118865" "" "" "" "1" "" "02210" "{PMID9326317:Philippe, 1997}" "4 generations, 11 patients" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00118866" "" "" "" "1" "" "02210" "{PMID16088908:Pedrini, 2005}" "" "" "" "Italy" "" "0" "" "" "" "" "00118867" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "" "" "0" "" "" "" "" "00118868" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118869" "" "" "" "1" "" "02210" "{PMID12490068:Shi, 2002}" "3 generations, 7 patients" "" "" "Taiwan" "" "0" "" "" "Asian" "" "00118870" "" "" "" "1" "" "02210" "{PMID18165274:Jennes, 2008}" "Mallorca" "" "" "Spain" "" "0" "" "" "" "" "00118871" "" "" "" "1" "" "02213" "Casey, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118872" "" "" "" "1" "" "02210" "{PMID17589361:Alvarez, 2007}" "" "" "" "" "" "0" "" "" "" "" "00118873" "" "" "" "1" "" "02210" "{PMID:Pei 2010:21039224}" "" "" "" "China" "" "0" "" "" "" "" "00118874" "" "" "" "1" "" "02210" "{PMID9326317:Philippe, 1997}" "4 generations, 6 patients" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00118875" "" "" "" "1" "" "02210" "{PMID9326317:Philippe, 1997}" "2 generations, 2 patients" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00118876" "" "" "" "1" "" "02210" "{PMID:Dobson-Stone 2000:10713884}" "" "" "" "" "" "0" "" "" "white" "" "00118877" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00118878" "" "" "" "1" "" "02210" "{PMID11169766:Bernard, 2001}" "" "" "" "" "" "0" "" "" "" "" "00118879" "" "" "" "1" "" "02210" "{PMID11432960:Francannet, 2001}" "4 patients in family" "" "" "France" "" "0" "" "" "" "" "00118880" "" "" "" "1" "" "02210" "{PMID12239711:Hall, 2002}" "" "" "" "" "" "0" "" "" "" "" "00118881" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Morocco" "" "0" "" "" "" "" "00118882" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Belgium" "" "0" "" "" "" "" "00118883" "" "" "" "1" "" "02210" "{PMID16879194:Alvarez, 2006}" "" "" "" "Japan" "" "0" "" "" "" "" "00118884" "" "" "" "1" "" "02210" "{PMID19344451:Heinritz, 2009}" "" "" "" "Germany" "" "0" "" "" "" "" "00118885" "" "" "" "1" "" "02210" "{PMID19344451:Heinritz, 2009}" "" "" "" "Germany" "" "0" "" "" "" "" "00118886" "" "" "" "1" "" "02210" "{PMID19344451:Heinritz, 2009}" "" "" "" "Germany" "" "0" "" "" "" "" "00118887" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118888" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "F" "" "Italy" "" "0" "" "" "" "" "00118889" "" "" "" "1" "" "02210" "{PMID:Pei 2010:21039224}" "2 generations; 2 patients" "" "" "China" "" "0" "" "" "" "" "00118890" "" "" "" "1" "" "02215" "" "" "M" "" "" "" "0" "" "" "white" "" "00118891" "" "" "" "1" "" "02210" "{PMID15796962:Tsuchiya, 2005}" "" "" "" "" "" "0" "" "" "" "" "00118892" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118893" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118894" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118895" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118896" "" "" "" "1" "" "02152" "Bakker, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118897" "" "" "" "1" "" "02215" "" "" "M" "" "" "" "0" "" "" "white" "" "00118898" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00118899" "" "" "" "1" "" "02210" "{PMID16879194:Alvarez, 2006}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00118900" "" "" "" "1" "" "02210" "{PMID15586175:Vink, 2004}" "" "" "" "" "" "0" "" "" "white" "" "00118901" "" "" "" "1" "" "02210" "{PMID18165274:Jennes, 2008}" "" "" "" "Belgium" "" "0" "" "" "" "" "00118902" "" "" "" "1" "" "02210" "{PMID15586175:Vink, 2004}" "" "" "" "" "" "0" "" "" "white" "" "00118903" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00118904" "" "" "" "1" "" "02210" "{PMID19344451:Heinritz, 2009}" "" "" "" "Germany" "" "0" "" "" "" "" "00118905" "" "" "" "1" "" "02210" "{PMID16088908:Pedrini, 2005}" "" "" "" "Italy" "" "0" "" "" "" "" "00118906" "" "" "" "1" "" "02213" "Casey, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118907" "" "" "" "1" "" "02210" "{PMID16879194:Alvarez, 2006}" "" "" "" "Austria" "" "0" "" "" "" "" "00118908" "" "" "" "1" "" "02210" "{PMID17589361:Alvarez, 2007}" "" "" "" "" "" "0" "" "" "" "" "00118909" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00118910" "" "" "" "1" "" "02213" "Casey, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118911" "" "" "" "1" "" "02210" "{PMID15586175:Vink, 2004}" "" "" "" "" "" "0" "" "" "white" "" "00118912" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00118913" "" "" "" "1" "" "02152" "Bakker, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118914" "" "" "" "1" "" "02210" "{PMID11432960:Francannet, 2001}" "6 patients in family" "" "" "France" "" "0" "" "" "" "" "00118915" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00118916" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Belgium" "" "0" "" "" "" "" "00118917" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118918" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118919" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118920" "" "" "" "1" "" "02210" "{PMID19344451:Heinritz, 2009}" "" "" "" "Germany" "" "0" "" "" "" "" "00118921" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "F" "" "Belgium" "" "0" "" "" "" "" "00118922" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "F" "" "Belgium" "" "0" "" "" "" "" "00118923" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "France" "" "0" "" "" "white" "" "00118924" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118925" "" "" "" "1" "" "02210" "{PMID9463333:Wuyts, 1998}" "1 patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00118926" "" "" "" "1" "" "02210" "{PMID19309273:Vanita, 2009}" "" "" "" "India" "" "0" "" "" "" "" "00118927" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Denmark" "" "0" "" "" "" "" "00118928" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118929" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Bulgaria" "" "0" "" "" "Bulgarian" "" "00118930" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118931" "" "" "" "1" "" "02210" "{PMID19344451:Heinritz, 2009}" "" "" "" "Germany" "" "0" "" "" "" "" "00118932" "" "" "" "1" "" "02210" "{PMID:Pei 2010:21039224}" "2 generations; 2 patients" "" "" "China" "" "0" "" "" "" "" "00118933" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "United States" "" "0" "" "" "" "" "00118934" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118935" "" "" "" "1" "" "02210" "{PMID15796962:Tsuchiya, 2005}" "" "" "" "" "" "0" "" "" "" "" "00118936" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118937" "" "" "" "1" "" "02210" "{PMID12239711:Hall, 2002}" "" "" "" "" "" "0" "" "" "" "" "00118938" "" "" "" "1" "" "02210" "{PMID12239711:Hall, 2002}" "" "" "" "" "" "0" "" "" "" "" "00118939" "" "" "" "1" "" "02210" "{PMID11169766:Bernard, 2001}" "" "" "" "" "" "0" "" "" "" "" "00118940" "" "" "" "1" "" "02210" "{PMID17301954:Signori, 2007}" "" "" "" "Italy" "" "0" "" "" "" "" "00118941" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118942" "" "" "" "1" "" "02152" "Bakker, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118943" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Belgium" "" "0" "" "" "" "" "00118944" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00118945" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Belgium" "" "0" "" "" "" "" "00118946" "" "" "" "1" "" "02152" "Bakker, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118947" "" "" "" "1" "" "02210" "{PMID16638657:Chen, 2006}" "2 generations, 2 patients" "" "" "Taiwan" "" "0" "" "" "Asian" "" "00118948" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00118949" "" "" "" "1" "" "02210" "{PMID19344451:Heinritz, 2009}" "" "" "" "Germany" "" "0" "" "" "" "" "00118950" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118951" "" "" "" "1" "" "02210" "{PMID17301954:Signori, 2007}" "" "" "" "Italy" "" "0" "" "" "" "" "00118952" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118953" "" "" "" "1" "" "02152" "Bakker, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118954" "" "" "" "1" "" "02210" "{PMID12239711:Hall, 2002}" "" "" "" "" "" "0" "" "" "" "" "00118955" "" "" "" "1" "" "02210" "{PMID12239711:Hall, 2002}" "" "" "" "" "" "0" "" "" "" "" "00118956" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118957" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "" "" "0" "" "" "white" "" "00118958" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "F" "" "Italy" "" "0" "" "" "" "" "00118959" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "F" "" "Italy" "" "0" "" "" "" "" "00118960" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "F" "" "Italy" "" "0" "" "" "" "" "00118961" "" "" "" "1" "" "02210" "{PMID19504431:Zhao, 2009}" "" "" "" "China" "" "0" "" "" "Asian" "" "00118962" "" "" "" "1" "" "02210" "{PMID19839753:Li, 2009}" "" "" "" "China" "" "0" "" "" "China" "" "00118963" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Belgium" "" "0" "" "" "" "" "00118964" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Netherlands" "" "0" "" "" "" "" "00118965" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "" "" "0" "" "" "" "" "00118966" "" "" "" "1" "" "02210" "{PMID:Pei 2010:21039224}" "2 generations; 2 patients" "" "" "China" "" "0" "" "" "" "" "00118967" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Bulgaria" "" "0" "" "" "Bulgarian" "" "00118968" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118969" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118970" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "Hungary" "" "0" "" "" "" "" "00118971" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Bulgaria" "" "0" "" "" "" "" "00118972" "" "" "" "1" "" "02210" "{PMID11170095:Seki, 2001}" "4 patient" "" "" "Japan" "" "0" "" "" "Asian" "" "00118973" "" "" "" "1" "" "02210" "{PMID16088908:Pedrini, 2005}" "" "" "" "Italy" "" "0" "" "" "" "" "00118974" "" "" "" "1" "" "02210" "{PMID:Dobson-Stone 2000:10713884}" "" "" "" "" "" "0" "" "" "" "" "00118975" "" "" "" "1" "" "02210" "{PMID15586175:Vink, 2004}" "" "" "" "" "" "0" "" "" "white" "" "00118976" "" "" "" "1" "" "02210" "{PMID15586175:Vink, 2004}" "" "" "" "" "" "0" "" "" "white" "" "00118977" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Belgium" "" "0" "" "" "white" "" "00118978" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Netherlands" "" "0" "" "" "" "" "00118979" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Netherlands" "" "0" "" "" "" "" "00118980" "" "" "" "1" "" "02152" "Bakker, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118981" "" "" "" "1" "" "02152" "Bakker, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118982" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118983" "" "" "" "1" "" "02210" "{PMID11432960:Francannet, 2001}" "" "" "" "France" "" "0" "" "" "" "" "00118984" "" "" "" "1" "" "02210" "{PMID15586175:Vink, 2004}" "" "" "" "" "" "0" "" "" "white" "" "00118985" "" "" "" "1" "" "02152" "Bakker, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118986" "" "" "" "1" "" "02210" "{PMID10679937:Wuyts, 2000}" "Data from Raskind, unpublished" "" "" "" "" "0" "" "" "" "" "00118987" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "" "" "India" "" "0" "" "" "" "" "00118988" "" "" "" "1" "" "02210" "{PMID18165274:Jennes, 2008}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00118989" "" "" "" "1" "" "02210" "{PMID11668521:Gigante, 2001}" "2 generations, 1 patient" "" "" "Italy" "" "0" "" "" "white" "" "00118990" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Germany" "" "0" "" "" "" "" "00118991" "" "" "" "1" "" "02210" "{PMID18165274:Jennes, 2008}" "" "" "" "Hungary" "" "0" "" "" "" "" "00118992" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "India" "" "0" "" "" "" "" "00118993" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Spain" "" "0" "" "" "" "" "00118994" "" "" "" "1" "" "02210" "{PMID11432960:Francannet, 2001}" "6 patients in family" "" "" "France" "" "0" "" "" "" "" "00118995" "" "" "" "1" "" "02210" "{PMID:Dobson-Stone 2000:10713884}" "" "F" "" "Belgium" "" "0" "" "" "white" "" "00118996" "" "" "" "1" "" "02210" "{PMID9463333:Wuyts, 1998}" "8 patients, Common ancestor with families 29 & 42." "" "" "Belgium" "" "0" "" "" "white" "" "00118997" "" "" "" "1" "" "02210" "{PMID9463333:Wuyts, 1998}" "5 patients, Common ancestor with families 2 & 42." "" "" "Belgium" "" "0" "" "" "white" "" "00118998" "" "" "" "1" "" "02210" "{PMID9463333:Wuyts, 1998}" "Family 3 in Wuyts, 19952 patients, Common ancestor with families 2 & 29." "" "" "Netherlands" "" "0" "" "" "white" "" "00118999" "" "" "" "1" "" "02210" "{PMID15586175:Vink, 2004}" "" "" "" "" "" "0" "" "" "white" "" "00119000" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00119001" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00119002" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Germany" "" "0" "" "" "" "" "00119003" "" "" "" "1" "" "02210" "{PMID9463333:Wuyts, 1998}" "1 patient" "" "" "Morocco" "" "0" "" "" "" "" "00119004" "" "" "" "1" "" "02210" "{PMID18067075:Zhang, 2007}" "" "" "" "" "" "0" "" "" "" "" "00119005" "" "" "" "1" "" "02210" "{PMID18165274:Jennes, 2008}" "" "" "" "" "" "0" "" "" "" "" "00119006" "" "" "" "1" "" "02210" "{PMID20872591:Yang, 2010}" "Family with 19 patients in 34 family members3 generations" "" "" "" "" "0" "" "" "" "" "00119007" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "" "" "0" "" "" "" "" "00119008" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "" "" "0" "" "" "" "" "00119009" "" "" "" "1" "" "02210" "{PMID:Dobson-Stone 2000:10713884}" "" "" "" "" "" "0" "" "" "white" "" "00119010" "" "" "" "1" "" "02210" "{PMID16879194:Alvarez, 2006}" "" "" "" "France" "" "0" "" "" "" "" "00119011" "" "" "" "1" "" "02210" "{PMID12490068:Shi, 2002}" "3 generations, 3 patients" "" "" "Taiwan" "" "0" "" "" "Asian" "" "00119012" "" "" "" "1" "" "02210" "{PMID12490068:Shi, 2002}" "2 generations, 2 patients" "" "" "Taiwan" "" "0" "" "" "Asian" "" "00119013" "" "" "" "1" "" "02213" "Casey, not yet published" "" "" "" "" "" "0" "" "" "" "" "00119014" "" "" "" "1" "" "02213" "Casey, not yet published" "" "" "" "" "" "0" "" "" "" "" "00119015" "" "" "" "1" "" "02213" "Casey, not yet published" "" "" "" "" "" "0" "" "" "" "" "00119016" "" "" "" "1" "" "02210" "{PMID17589361:Alvarez, 2007}" "" "" "" "" "" "0" "" "" "" "" "00119017" "" "" "" "1" "" "02210" "{PMID17589361:Alvarez, 2007}" "" "" "" "" "" "0" "" "" "" "" "00119018" "" "" "" "1" "" "02214" "Asteggiano, not yet published" "" "" "" "Argentina" "" "0" "" "" "" "" "00119019" "" "" "" "1" "" "02152" "Bakker, not yet published" "" "" "" "" "" "0" "" "" "" "" "00119020" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00119021" "" "" "" "1" "" "02210" "{PMID10480354:Xu, 1999}" "2 patients" "" "" "China" "" "0" "" "" "Asian" "" "00119022" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Belgium" "" "0" "" "" "" "" "00119023" "" "" "" "1" "" "02210" "{PMID18165274:Jennes, 2008}" "" "" "" "Spain" "" "0" "" "" "" "" "00119024" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00119025" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00119026" "" "" "" "1" "" "02210" "{PMID9326317:Philippe, 1997}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00119027" "" "" "" "1" "" "02210" "{PMID10480354:Xu, 1999}" "4 patients" "" "" "China" "" "0" "" "" "Asian" "" "00119028" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00119029" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Ukraine" "" "0" "" "" "" "" "00119030" "" "" "" "1" "" "02210" "{PMID16088908:Pedrini, 2005}" "" "" "" "Italy" "" "0" "" "" "" "" "00119031" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00119032" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Belgium" "" "0" "" "" "" "" "00119033" "" "" "" "1" "" "02210" "{PMID10480354:Xu, 1999}" "7 patients" "" "" "China" "" "0" "" "" "Asian" "" "00119034" "" "" "" "1" "" "02210" "{PMID10480354:Xu, 1999}" "3 patients" "" "" "China" "" "0" "" "" "Asian" "" "00119035" "" "" "" "1" "" "02210" "{PMID10480354:Xu, 1999}" "4 patients" "" "" "China" "" "0" "" "" "Asian" "" "00119036" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00119037" "" "" "" "1" "" "02210" "{PMID18165274:Jennes, 2008}" "Mallorca" "" "" "Spain" "" "0" "" "" "" "" "00119038" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Spain" "" "0" "" "" "" "" "00119039" "" "" "" "1" "" "02210" "Jennes, not yet published" "Mallorca" "" "" "Spain" "" "0" "" "" "" "" "00119040" "" "" "" "1" "" "02210" "{PMID17301954:Signori, 2007}" "" "" "" "Italy" "" "0" "" "" "" "" "00119041" "" "" "" "1" "" "02210" "{PMID11432960:Francannet, 2001}" "5 patients in family" "" "" "France" "" "0" "" "" "" "" "00119042" "" "" "" "1" "" "02213" "Casey, not yet published" "" "" "" "" "" "0" "" "" "" "" "00119043" "" "" "" "1" "" "02210" "{PMID9463333:Wuyts, 1998}" "" "" "" "United States" "" "0" "" "" "" "" "00119044" "" "" "" "1" "" "02210" "{PMID:Pei 2010:21039224}" "1 generation; 2 patients\r\nProbably mosaic parent" "" "" "China" "" "0" "" "" "" "" "00119045" "" "" "" "1" "" "02210" "{PMID17301954:Signori, 2007}" "" "" "" "Italy" "" "0" "" "" "" "" "00119046" "" "" "" "1" "" "02152" "Bakker, not yet published" "Severe MO" "M" "" "Sweden" "" "0" "" "" "" "" "00119047" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00119048" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "" "" "0" "" "" "" "" "00119049" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "" "" "0" "" "" "" "" "00119050" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00119051" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "" "" "0" "" "" "" "" "00119052" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "" "" "0" "" "" "" "" "00119053" "" "" "" "1" "" "02210" "{PMID11170095:Seki, 2001}" "1 patient" "" "" "Japan" "" "0" "" "" "Asian" "" "00119054" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "" "" "0" "" "" "" "" "00119055" "" "" "" "1" "" "02210" "{PMID11668521:Gigante, 2001}" "2 generations, 1 patient" "F" "" "Italy" "" "0" "" "" "white" "" "00119056" "" "" "" "1" "" "02213" "Casey, not yet published" "" "" "" "" "" "0" "" "" "" "" "00119057" "" "" "" "1" "" "02210" "{PMID18976157:Kojima, 2008}" "" "" "" "Japan" "" "0" "" "" "Asian" "" "00119058" "" "" "" "1" "" "02210" "{PMID18976157:Kojima, 2008}" "" "" "" "Japan" "" "0" "" "" "Asian" "" "00119059" "" "" "" "1" "" "02210" "{PMID17301954:Signori, 2007}" "" "" "" "Italy" "" "0" "" "" "white" "" "00119060" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "" "" "0" "" "" "" "" "00119061" "" "" "" "1" "" "02210" "{PMID19344451:Heinritz, 2009}" "" "" "" "Germany" "" "0" "" "" "" "" "00119062" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "" "" "0" "" "" "" "" "00119063" "" "" "" "1" "" "02210" "{PMID17301954:Signori, 2007}" "" "" "" "Italy" "" "0" "" "" "" "" "00119064" "" "" "" "1" "" "02210" "{PMID17301954:Signori, 2007}" "" "" "" "Italy" "" "0" "" "" "" "" "00119065" "" "" "" "1" "" "02210" "{PMID18976157:Kojima, 2008}" "" "" "" "Japan" "" "0" "" "" "Asian" "" "00119066" "" "" "" "1" "" "02210" "{PMID18976157:Kojima, 2008}" "" "" "" "Japan" "" "0" "" "" "Asian" "" "00119067" "" "" "" "1" "" "02210" "{PMID18976157:Kojima, 2008}" "" "" "" "Japan" "" "0" "" "" "Asian" "" "00119068" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "" "" "0" "" "" "" "" "00208710" "" "" "" "3" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 3 affected" "F" "" "Italy" "32y" "0" "" "" "white" "FamEXT2_01_a_pt1" "00208711" "" "" "00208710" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "" "F" "" "Italy" "37y" "0" "" "" "white" "FamEXT2_01_a_pt2" "00208712" "" "" "00208710" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "" "M" "" "Italy" "13y" "0" "" "" "white" "FamEXT2_01_a_pt3" "00208713" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "F" "" "Italy" "45y" "0" "" "" "white" "FamEXT2_01_c_pt1" "00208714" "" "" "" "2" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 2 affected" "M" "" "Italy" "9y" "0" "" "" "white" "FamEXT2_01_d_pt1" "00208715" "" "" "00208714" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "" "F" "" "Italy" "13y" "0" "" "" "white" "FamEXT2_01_d_pt2" "00208716" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "M" "" "Italy" "7y" "0" "" "" "white" "FamEXT2_01_e_pt1" "00208717" "" "" "" "2" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 2 affected" "M" "" "Italy" "74y" "0" "" "" "white" "FamEXT2_01_f_pt1" "00208718" "" "" "00208717" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "" "M" "" "Italy" "36y" "0" "" "" "white" "FamEXT2_01_f_pt2" "00208719" "" "" "" "3" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "" "" "Italy" "" "0" "" "" "white" "FamEXT2_02" "00208720" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "" "" "Italy" "" "0" "" "" "white" "FamEXT2_03" "00208721" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "F" "" "Italy" "38y" "0" "" "" "white" "FamEXT2_04_pt1" "00208722" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "" "" "Italy" "" "0" "" "" "white" "FamEXT2_05" "00208723" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "" "" "Italy" "" "0" "" "" "white" "FamEXT2_06" "00208724" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "" "" "Italy" "" "0" "" "" "white" "FamEXT2_07" "00208725" "" "" "" "3" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 3 affected" "M" "" "Italy" "65y" "0" "" "" "white" "FamEXT2_08_pt1" "00208726" "" "" "00208725" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "" "F" "" "Italy" "27y" "0" "" "" "white" "FamEXT2_08_pt2" "00208727" "" "" "00208725" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "" "M" "" "Italy" "25y" "0" "" "" "white" "FamEXT2_08_pt3" "00208728" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "M" "" "Italy" "43y" "0" "" "" "white" "FamEXT2_09_pt1" "00208729" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "M" "" "Italy" "24y" "0" "" "" "white" "FamEXT2_10_pt1" "00208730" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "" "" "Italy" "" "0" "" "" "white" "FamEXT2_11" "00208731" "" "" "" "2" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 2 affected" "M" "" "Italy" "18y" "0" "" "" "white" "FamEXT2_12_pt1" "00208732" "" "" "" "4" "" "02515" "{PMID:Fusco 2019:3080666}" "2-generation family, 4 affected (3F, M)" "F" "" "Italy" "17y" "0" "" "" "white" "FamExt2-13PatII2" "00208733" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "" "" "Italy" "" "0" "" "" "white" "FamEXT2_14" "00208734" "" "" "" "3" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 3 affected" "F" "" "Italy" "38y" "0" "" "" "white" "FamEXT2_15_pt1" "00208735" "" "" "00208734" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "" "F" "" "Italy" "38y" "0" "" "" "white" "FamEXT2_15_pt2" "00208736" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "M" "" "Italy" "33y" "0" "" "" "white" "FamEXT2_16_pt1" "00208737" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "" "" "Italy" "" "0" "" "" "white" "FamEXT2_17" "00208738" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "" "" "Italy" "" "0" "" "" "white" "FamEXT2_18" "00208739" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "" "" "Italy" "" "0" "" "" "white" "FamEXT2_19" "00208740" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "M" "" "Italy" "21y" "0" "" "" "white" "FamEXT2_20_pt1" "00208741" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "" "" "Italy" "" "0" "" "" "white" "FamEXT2_21" "00208742" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "" "" "Italy" "" "0" "" "" "white" "FamEXT2_22" "00208743" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "" "" "Italy" "" "0" "" "" "white" "FamEXT2_23" "00208744" "" "" "" "2" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 2 affected" "M" "" "Italy" "57y" "0" "" "" "white" "FamEXT2_24_pt1" "00208745" "" "" "00208744" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "" "M" "" "Italy" "18y" "0" "" "" "white" "FamEXT2_24_pt2" "00208746" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "F" "" "Italy" "30y" "0" "" "" "white" "FamEXT2_25_a_pt1" "00290394" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290395" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290396" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296842" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" "" "00307265" "" "" "" "4" "" "00006" "{PMID:Chen 2020:32678989}" "2-generation family, 4 affected (4M)" "M" "" "China" "" "0" "" "" "Han Chinese" "family" "00307267" "" "" "" "4" "" "00006" "{PMID:Cao 2018:30250583}" "2-generation family, 4 affected (F, 3M)" "F;M" "" "China" "" "0" "" "" "" "family" "00307268" "" "" "" "5" "" "00006" "{PMID:Ruan 2018:29541207}" "3-generation family, 5 affected (F, 4M)" "F;M" "" "China" "" "0" "" "" "" "FamJX-JJ001" "00332376" "" "" "" "2" "" "00006" "{PMID:Tong 2021:33596140}" "2-generation family, affected mother/son, unaffected heterozygous carrier parents" "F;M" "" "China" "" "0" "" "" "" "Fam4" "00377301" "" "" "" "2" "" "00006" "{PMID:Guo 2021:34280007}" "2-generation family, affected father/daughter" "F;M" "no" "China" "" "0" "" "" "" "FamPatI1/II1" "00380299" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2013:23105016}" "Atypical inheritance for RDH12 in RP" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00380771" "" "" "" "1" "" "00000" "{PMID:Nair 2018:30293248}" "" "?" "" "Lebanon" "" "0" "" "" "" "?" "00418841" "" "" "" "3" "" "00006" "{PMID:Fusco 2019:3080666}" "family, 3 affected" "F" "" "Italy" "" "0" "" "" "" "FamEXT2_25_b_pt1" "00418842" "" "" "00418841" "1" "" "00006" "{PMID:Fusco 2019:3080666}" "" "F" "" "Italy" "" "0" "" "" "" "FamEXT2_25_b_pt2" "00418843" "" "" "00418841" "1" "" "00006" "{PMID:Fusco 2019:3080666}" "" "F" "" "Italy" "" "0" "" "" "" "FamEXT2_25_b_pt3" "00452927" "" "" "" "3" "" "04449" "" "Proband" "M" "no" "Russia" ">06y" "0" "" "Surgery" "Sakha (Yakut)" "NEFU_MMHG_MHE_2" "00452928" "" "" "00452927" "1" "" "04449" "" "Sibs" "M" "no" "Russia" ">12y" "0" "" "" "Sakha (Yakut)" "NEFU_MMHG_MHE_3" "00452929" "" "" "00452927" "1" "" "04449" "" "Mother" "F" "no" "Russia" ">42y" "0" "" "" "Sakha (Yakut)" "NEFU_MMHG_MHE_4" "00452940" "" "" "" "1" "" "04449" "" "Proband" "M" "no" "Russia" ">17y" "" "" "Surgery" "Sakha (Yakut)" "NEFU_MMHG_MHE_5" "00452946" "" "" "" "1" "" "04449" "" "Proband" "M" "no" "Russia" ">20y" "" "Surgery" "Surgery" "Sakha (Yakut)" "NEFU_MMHG_MHE_8" "00452947" "" "" "" "1" "" "04449" "" "Proband" "M" "no" "Russia" ">21y" "" "" "Surgery" "Sakha (Yakut)" "NEFU_MMHG_MHE_9" "00452948" "" "" "" "2" "" "04449" "" "Proband" "M" "no" "Russia" ">15y" "" "" "Surgery" "Sakha (Yakut)" "NEFU_MMHG_MHE_10" "00452951" "" "" "00452948" "1" "" "04449" "" "Father" "M" "no" "Russia" ">52y" "" "" "" "Sakha (Yakut)" "NEFU_MMHG_MHE_11" "00452953" "" "" "" "7" "" "04449" "" "Proband" "M" "no" "Russia" ">18y" "" "" "Surgery" "Sakha (Yakut)" "NEFU_MMHG_MHE_13" "00452954" "" "" "00452953" "1" "" "04449" "" "Father" "M" "no" "Russia" ">55y" "" "" "" "Sakha (Yakut)" "NEFU_MMHG_MHE_14" "00452955" "" "" "00452953" "1" "" "04449" "" "Cousin" "F" "no" "Russia" ">20y" "" "" "" "Sakha (Yakut)" "NEFU_MMHG_MHE_15" "00452956" "" "" "00452953" "1" "" "04449" "" "Aunt" "F" "no" "Russia" ">49y" "" "" "" "Sakha (Yakut)" "NEFU_MMHG_MHE_16" "00452957" "" "" "00452953" "1" "" "04449" "" "Aunt" "F" "no" "Russia" ">53y" "" "" "" "Sakha (Yakut)" "NEFU_MMHG_MHE_17" "00452959" "" "" "00452953" "1" "" "04449" "" "Cousin" "F" "no" "Russia" ">25y" "" "" "" "Sakha (Yakut)" "NEFU_MMHG_MHE_18" "00452960" "" "" "00452953" "1" "" "04449" "" "Cousin" "M" "no" "Russia" ">24y" "" "" "" "Sakha (Yakut)" "NEFU_MMHG_MHE_19" "00452962" "" "" "00452963" "1" "" "04449" "" "Uncle" "M" "no" "Russia" ">37y" "" "" "" "Sakha (Yakut)" "NEFU_MMHG_MHE_20" "00452963" "" "" "" "6" "" "04449" "" "Proband" "M" "no" "Russia" ">18y" "0" "" "Surgery" "Sakha (Yakut)" "NEFU_MMHG_MHE_21" "00452964" "" "" "00452963" "1" "" "04449" "" "Father" "M" "no" "Russia" ">42y" "0" "" "" "Sakha (Yakut)" "NEFU_MMHG_MHE_22" "00452965" "" "" "00452963" "1" "" "04449" "" "Aunt" "F" "no" "Russia" ">09y" "0" "" "Surgery" "Sakha (Yakut)" "NEFU_MMHG_MHE_23" "00452966" "" "" "00452963" "1" "" "04449" "" "Uncle" "M" "no" "Russia" ">31y" "0" "" "" "Sakha (Yakut)" "NEFU_MMHG_MHE_24" "00452967" "" "" "00452963" "1" "" "04449" "" "Aunt" "F" "no" "Russia" ">27y" "0" "" "" "Sakha (Yakut)" "NEFU_MMHG_MHE_25" "00452972" "" "" "" "1" "" "04449" "" "Proband" "M" "no" "Russia" ">28y" "" "" "Surgery" "Sakha (Yakut)" "NEFU_MMHG_MHE_30" "00452973" "" "" "" "1" "" "04449" "" "Proband" "M" "no" "Russia" ">17y" "" "" "Surgery" "Sakha (Yakut)" "NEFU_MMHG_MHE_31" "00452974" "" "" "" "2" "" "04449" "" "Proband" "F" "no" "Russia" ">11y" "" "" "" "Sakha (Yakut)" "NEFU_MMHG_MHE_32" "00452975" "" "" "00452974" "1" "" "04449" "" "Mother" "F" "no" "Russia" ">33y" "" "" "" "Sakha (Yakut)" "NEFU_MMHG_MHE_33" "00452980" "" "" "" "1" "" "04449" "" "Proband" "F" "no" "Russia" ">13y" "" "" "" "Sakha (Yakut)" "NEFU_MMHG_MHE_38" "00452981" "" "" "" "4" "" "04449" "" "Proband" "M" "no" "Russia" ">25y" "" "" "" "Sakha (Yakut)" "NEFU_MMHG_MHE_39" "00452982" "" "" "00452981" "1" "" "04449" "" "Cousin" "M" "no" "Russia" ">25y" "" "" "" "Sakha (Yakut)" "NEFU_MMHG_MHE_40" "00452983" "" "" "00452981" "1" "" "04449" "" "Niece" "F" "no" "Russia" ">14y" "" "" "" "Sakha (Yakut)" "NEFU_MMHG_MHE_41" "00452984" "" "" "00452981" "1" "" "04449" "" "Niece" "F" "no" "Russia" ">13y" "" "" "" "Sakha (Yakut)" "NEFU_MMHG_MHE_42" "00452985" "" "" "" "2" "" "04449" "" "Proband" "F" "no" "Russia" ">45y" "" "" "Surgery" "Sakha (Yakut)" "NEFU_MMHG_MHE_43" "00452986" "" "" "00452985" "1" "" "04449" "" "Son" "M" "no" "Russia" ">15y" "" "" "" "Sakha (Yakut)" "NEFU_MMHG_MHE_44" "00452987" "" "" "" "1" "" "04449" "" "Proband" "M" "no" "Russia" ">06y" "" "" "" "Sakha (Yakut)" "NEFU_MMHG_MHE_45" "00452988" "" "" "" "1" "" "04449" "" "Proband" "F" "no" "Russia" ">08y" "" "" "Surgery" "Sakha (Yakut)" "NEFU_MMHG_MHE_46" "00453414" "" "" "" "1" "" "04740" "{DOI:Yakovleva 2022:10.2991/ahsr.k.220103.050}" "Proband" "F" "no" "Russia" ">19y" "0" "" "" "Sakha (Yakut)" "NEFU_MMHG_MHE_47" "00466703" "" "" "" "1" "" "00006" "{PMID:Plachy 2019:30753492}" "" "M" "" "Czech Republic" "" "0" "" "" "" "Pat27" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 476 "{{individualid}}" "{{diseaseid}}" "00100647" "05234" "00118681" "05318" "00118682" "05318" "00118683" "05318" "00118684" "05318" "00118685" "05318" "00118686" "05318" "00118687" "05318" "00118688" "05318" "00118689" "05318" "00118690" "05318" "00118691" "05318" "00118692" "05318" "00118693" "05318" "00118694" "05318" "00118695" "05318" "00118696" "05318" "00118697" "05318" "00118698" "05318" "00118699" "05318" "00118700" "05318" "00118701" "05318" "00118702" "05318" "00118703" "05318" "00118704" "05318" "00118705" "05318" "00118706" "05318" "00118707" "05318" "00118708" "05318" "00118709" "05318" "00118710" "05318" "00118711" "05318" "00118712" "05318" "00118713" "05318" "00118714" "05318" "00118715" "05318" "00118716" "05318" "00118717" "05318" "00118718" "05318" "00118719" "05318" "00118720" "05318" "00118721" "05318" "00118722" "05318" "00118723" "05318" "00118724" "05318" "00118725" "05318" "00118726" "05318" "00118727" "05318" "00118728" "05318" "00118729" "05318" "00118730" "05318" "00118731" "05318" "00118732" 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"05318" "00118838" "05318" "00118839" "05318" "00118840" "05318" "00118841" "05318" "00118842" "05318" "00118843" "05318" "00118844" "05318" "00118845" "05318" "00118846" "05318" "00118847" "05318" "00118848" "05318" "00118849" "05318" "00118850" "05318" "00118851" "05318" "00118852" "05318" "00118853" "05318" "00118854" "05318" "00118855" "05318" "00118856" "05318" "00118857" "05318" "00118858" "05318" "00118859" "05318" "00118860" "05318" "00118861" "05318" "00118862" "05318" "00118863" "05318" "00118864" "05318" "00118865" "05318" "00118866" "05318" "00118867" "05318" "00118868" "05318" "00118869" "05318" "00118870" "05318" "00118871" "05318" "00118872" "05318" "00118873" "05318" "00118874" "05318" "00118875" "05318" "00118876" "05318" "00118877" "05318" "00118878" "05318" "00118879" "05318" "00118880" "05318" "00118881" "05318" "00118882" "05318" "00118883" "05318" "00118884" "05318" "00118885" "05318" "00118886" "05318" "00118887" "05318" "00118888" "05318" "00118889" "05318" 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"00118995" "05318" "00118996" "05318" "00118997" "05318" "00118998" "05318" "00118999" "05318" "00119000" "05318" "00119001" "05318" "00119002" "05318" "00119003" "05318" "00119004" "05318" "00119005" "05318" "00119006" "05318" "00119007" "05318" "00119008" "05318" "00119009" "05318" "00119010" "05318" "00119011" "05318" "00119012" "05318" "00119013" "05318" "00119014" "05318" "00119015" "05318" "00119016" "05318" "00119017" "05318" "00119018" "05318" "00119019" "05318" "00119020" "05318" "00119021" "05318" "00119022" "05318" "00119023" "05318" "00119024" "05318" "00119025" "05318" "00119026" "05318" "00119027" "05318" "00119028" "05318" "00119029" "05318" "00119030" "05318" "00119031" "05318" "00119032" "05318" "00119033" "05318" "00119034" "05318" "00119035" "05318" "00119036" "05318" "00119037" "05318" "00119038" "05318" "00119039" "05318" "00119040" "05318" "00119041" "05318" "00119042" "05318" "00119043" "05318" "00119044" "05318" "00119045" "05318" "00119046" "05318" "00119047" 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"00208741" "01326" "00208742" "01326" "00208743" "01326" "00208744" "01326" "00208745" "01326" "00208746" "01326" "00290394" "00198" "00290395" "00198" "00290396" "00198" "00296842" "01326" "00307265" "05804" "00307267" "05804" "00307268" "05804" "00332376" "01711" "00377301" "05318" "00380299" "04214" "00380771" "01326" "00418841" "01326" "00418842" "01326" "00418843" "01326" "00452927" "01326" "00452928" "01326" "00452929" "01326" "00452940" "01326" "00452946" "01326" "00452947" "01326" "00452948" "01326" "00452951" "01326" "00452953" "01326" "00452954" "01326" "00452955" "01326" "00452956" "01326" "00452957" "01326" "00452959" "01326" "00452960" "01326" "00452962" "01326" "00452963" "01326" "00452964" "01326" "00452965" "01326" "00452966" "01326" "00452967" "01326" "00452972" "01326" "00452973" "01326" "00452974" "01326" "00452975" "01326" "00452980" "01326" "00452981" "01326" "00452982" "01326" "00452983" "01326" "00452984" "01326" "00452985" "01326" "00452986" "01326" "00452987" "01326" "00452988" "01326" "00453414" "01326" "00466703" "04184" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01326, 01711, 04184, 04214, 05234, 05282, 05318, 05804 ## Count = 336 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000078875" "05234" "00100647" "01926" "Familial, autosomal dominant" "12y" "hypertelorism, prominent head, epicanthus, clinodactyly, psycho-motor delay" "12y" "" "" "" "" "" "" "" "" "" "" "0000093827" "05318" "00118682" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093828" "05318" "00118683" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093829" "05318" "00118684" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093830" "05318" "00118686" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093831" "05318" "00118687" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093832" "05318" "00118688" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093833" "05318" "00118689" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093834" "05318" "00118690" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093835" "05318" "00118691" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093836" "05318" "00118704" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093837" "05318" "00118707" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093838" "05318" "00118708" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093839" "05318" "00118709" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093840" "05318" "00118710" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093841" "05318" "00118715" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093842" "05318" "00118716" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093843" "05318" "00118717" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093844" "05318" "00118718" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093845" "05318" "00118719" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093846" "05318" "00118720" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093847" "05318" "00118721" "02215" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093848" "05318" "00118722" "02215" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093849" "05318" "00118723" "02215" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093850" "05318" "00118724" "02215" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093851" "05318" "00118725" "02215" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093852" "05318" "00118726" "02215" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093853" "05318" "00118727" "02215" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093854" "05318" "00118728" "02215" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093855" "05318" "00118729" "02215" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093856" "05318" "00118730" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093857" "05318" "00118731" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093858" "05318" "00118732" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093859" "05318" "00118733" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093860" "05318" "00118736" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093861" "05318" "00118737" "02215" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093862" "05318" "00118738" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093863" "05318" "00118739" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093864" "05318" "00118741" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093865" "05318" "00118742" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093866" "05318" "00118743" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093867" "05318" "00118745" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093868" "05318" "00118746" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093869" "05318" "00118747" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093870" "05318" "00118748" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093871" "05318" "00118749" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093872" "05318" "00118751" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093873" "05318" "00118752" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093874" "05318" "00118753" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093875" "05318" "00118754" "02215" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093876" "05318" "00118757" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093877" "05318" "00118758" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093878" "05318" "00118759" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093879" "05318" "00118760" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093880" "05318" "00118762" "02215" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093881" "05318" "00118763" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093882" "05318" "00118768" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093883" "05318" "00118769" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093884" "05318" "00118772" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093885" "05318" "00118773" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093886" "05318" "00118774" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093887" "05318" "00118775" "02218" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093888" "05318" "00118776" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093889" "05318" "00118777" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093890" "05318" "00118778" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093891" "05318" "00118779" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093892" "05318" "00118780" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093893" "05318" "00118782" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093894" "05318" "00118783" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093895" "05318" "00118784" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093896" "05318" "00118785" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093897" "05318" "00118786" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093898" "05318" "00118787" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093899" "05318" "00118790" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093900" "05318" "00118791" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093901" "05318" "00118792" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093902" "05318" "00118793" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093903" "05318" "00118794" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093904" "05318" "00118795" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093905" "05318" "00118796" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093906" "05318" "00118797" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093907" "05318" "00118801" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093908" "05318" "00118804" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093909" "05318" "00118805" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093910" "05318" "00118807" "02215" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093911" "05318" "00118808" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093912" "05318" "00118810" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093913" "05318" "00118812" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093914" "05318" "00118816" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093915" "05318" "00118820" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093916" "05318" "00118821" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093917" "05318" "00118822" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093918" "05318" "00118823" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093919" "05318" "00118824" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093920" "05318" "00118829" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093921" "05318" "00118830" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093922" "05318" "00118831" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093923" "05318" "00118832" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093924" "05318" "00118833" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093925" "05318" "00118834" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093926" "05318" "00118836" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093927" "05318" "00118837" "02215" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093928" "05318" "00118838" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093929" "05318" "00118839" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093930" "05318" "00118842" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093931" "05318" "00118843" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093932" "05318" "00118845" "02214" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093933" "05318" "00118846" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093934" "05318" "00118848" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093935" "05318" "00118849" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093936" "05318" "00118851" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093937" "05318" "00118852" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093938" "05318" "00118853" "02215" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093939" "05318" "00118855" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093940" "05318" "00118856" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093941" "05318" "00118858" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093942" "05318" "00118859" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093943" "05318" "00118860" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093944" "05318" "00118862" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093945" "05318" "00118863" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093946" "05318" "00118865" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093947" "05318" "00118866" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093948" "05318" "00118868" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093949" "05318" "00118869" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093950" "05318" "00118870" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093951" "05318" "00118873" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093952" "05318" "00118874" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093953" "05318" "00118875" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093954" "05318" "00118878" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093955" "05318" "00118879" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093956" "05318" "00118880" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093957" "05318" "00118881" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093958" "05318" "00118882" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093959" "05318" "00118883" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093960" "05318" "00118884" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093961" "05318" "00118886" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093962" "05318" "00118887" "02215" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093963" "05318" "00118888" "02215" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093964" "05318" "00118889" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093965" "05318" "00118890" "02215" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093966" "05318" "00118892" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093967" "05318" "00118893" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093968" "05318" "00118894" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093969" "05318" "00118895" "02215" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093970" "05318" "00118897" "02215" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093971" "05318" "00118898" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093972" "05318" "00118899" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093973" "05318" "00118900" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093974" "05318" "00118901" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093975" "05318" "00118902" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093976" "05318" "00118904" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093977" "05318" "00118905" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093978" "05318" "00118907" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093979" "05318" "00118911" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093980" "05318" "00118914" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093981" "05318" "00118916" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093982" "05318" "00118918" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093983" "05318" "00118919" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093984" "05318" "00118920" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093985" "05318" "00118924" "02215" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093986" "05318" "00118925" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093987" "05318" "00118926" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093988" "05318" "00118927" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093989" "05318" "00118928" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093990" "05318" "00118929" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093991" "05318" "00118930" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093992" "05318" "00118931" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093993" "05318" "00118932" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093994" "05318" "00118933" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093995" "05318" "00118934" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093996" "05318" "00118936" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093997" "05318" "00118937" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093998" "05318" "00118938" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093999" "05318" "00118939" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094000" "05318" "00118941" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094001" "05318" "00118943" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094002" "05318" "00118945" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094003" "05318" "00118947" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094004" "05318" "00118952" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094005" "05318" "00118954" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094006" "05318" "00118955" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094007" "05318" "00118956" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094008" "05318" "00118958" "02215" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094009" "05318" "00118959" "02215" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094010" "05318" "00118960" "02215" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094011" "05318" "00118961" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094012" "05318" "00118962" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094013" "05318" "00118963" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094014" "05318" "00118964" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094015" "05318" "00118966" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094016" "05318" "00118967" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094017" "05318" "00118968" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094018" "05318" "00118969" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094019" "05318" "00118971" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094020" "05318" "00118972" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094021" "05318" "00118973" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094022" "05318" "00118975" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094023" "05318" "00118977" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094024" "05318" "00118978" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094025" "05318" "00118979" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094026" "05318" "00118982" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094027" "05318" "00118983" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094028" "05318" "00118984" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094029" "05318" "00118988" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094030" "05318" "00118990" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094031" "05318" "00118991" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094032" "05318" "00118992" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094033" "05318" "00118993" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094034" "05318" "00118994" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094035" "05318" "00118995" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094036" "05318" "00118996" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094037" "05318" "00118997" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094038" "05318" "00118998" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094039" "05318" "00118999" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094040" "05318" "00119001" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094041" "05318" "00119002" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094042" "05318" "00119003" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094043" "05318" "00119005" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094044" "05318" "00119010" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094045" "05318" "00119011" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094046" "05318" "00119012" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094047" "05318" "00119018" "02214" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094048" "05318" "00119020" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094049" "05318" "00119021" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094050" "05318" "00119023" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094051" "05318" "00119024" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094052" "05318" "00119025" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094053" "05318" "00119027" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094054" "05318" "00119029" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094055" "05318" "00119030" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094056" "05318" "00119031" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094057" "05318" "00119032" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094058" "05318" "00119033" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094059" "05318" "00119034" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094060" "05318" "00119035" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094061" "05318" "00119036" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094062" "05318" "00119037" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094063" "05318" "00119038" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094064" "05318" "00119039" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094065" "05318" "00119041" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094066" "05318" "00119043" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094067" "05318" "00119044" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094068" "05318" "00119046" "02152" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094069" "05318" "00119047" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094070" "05318" "00119050" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094071" "05318" "00119053" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094072" "05318" "00119055" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094073" "05318" "00119057" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094074" "05318" "00119058" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094075" "05318" "00119061" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094076" "05318" "00119065" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094077" "05318" "00119066" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094078" "05318" "00119067" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157328" "01326" "00208710" "02515" "Familial, autosomal dominant" "32y" "multiple exostoses (HP:0002762); right arm humerus; exostoses leg, bilateral femur/thigh bones, bilateral fibula, bilateral tibia/shin bone" "" "" "" "" "" "" "" "" "" "" "" "0000157329" "01326" "00208711" "02515" "Familial, autosomal dominant" "37y" "multiple exostoses (HP:0002762); exostoses leg, bilateral femur/thigh bones, bilateral fibula, bilateral tibia/shin bone; exostoses chest, right ilium; lipomas" "" "" "" "" "" "" "" "" "" "" "" "0000157330" "01326" "00208712" "02515" "Familial, autosomal dominant" "13y" "multiple exostoses (HP:0002762); exostoses leg, fibula, tibia/shin bone; exostoses chest, bilateral ilium; pseudonodular subcutaneous formations" "" "" "" "" "" "" "" "" "" "" "" "0000157331" "01326" "00208713" "02515" "Familial, autosomal dominant" "45y" "multiple exostoses (HP:0002762); arm humerus; exostoses radius (HP:0003986); exostoses leg, tibia/shin bone" "" "" "" "" "" "" "" "" "" "" "" "0000157332" "01326" "00208714" "02515" "Familial, autosomal dominant" "9y" "multiple exostoses (HP:0002762); exostoses leg, left femur/thigh bones" "" "" "" "" "" "" "" "" "" "" "" "0000157333" "01326" "00208715" "02515" "Familial, autosomal dominant" "13y" "multiple exostoses (HP:0002762); left arm humerus" "" "" "" "" "" "" "" "" "" "" "" "0000157334" "01326" "00208716" "02515" "Familial, autosomal dominant" "7y" "multiple exostoses (HP:0002762); arm humerus; exostoses leg, right femur/thigh bones, left tibia/shin bone" "" "" "" "" "" "" "" "" "" "" "" "0000157335" "01326" "00208717" "02515" "Familial, autosomal dominant" "74y" "multiple exostoses (HP:0002762); exostoses chest, scapula" "" "" "" "" "" "" "" "" "" "" "" "0000157336" "01326" "00208718" "02515" "Familial, autosomal dominant" "36y" "multiple exostoses (HP:0002762); exostoses leg, bilateral femur/thigh bones, bilateral knees, bilateral tibia/shin bone; exostoses chest, scapula" "" "" "" "" "" "" "" "" "" "" "" "0000157337" "01326" "00208719" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157338" "01326" "00208720" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157339" "01326" "00208721" "02515" "Familial, autosomal dominant" "38y" "multiple exostoses (HP:0002762); exostoses left radius (HP:0003986); exostoses left ulna (HP:0003985); exostoses leg, right femur/thigh bones, right fibula, bilateral tibia/shin bone; exostoses chest, scapula; deformed radius and ulna shortening; distal synostosis of the fibula and tibia" "" "" "" "" "" "" "" "" "" "" "" "0000157340" "01326" "00208722" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157341" "01326" "00208723" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157342" "01326" "00208724" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157343" "01326" "00208725" "02515" "Familial, autosomal dominant" "65y" "multiple exostoses (HP:0002762); exostoses leg, bilateral knees" "" "" "" "" "" "" "" "" "" "" "" "0000157344" "01326" "00208726" "02515" "Familial, autosomal dominant" "27y" "multiple exostoses (HP:0002762); exostoses hand (HP:0004276); exostoses foot, bilateral calcaneus; exostoses chest, right scapula" "" "" "" "" "" "" "" "" "" "" "" "0000157345" "01326" "00208727" "02515" "Familial, autosomal dominant" "25y" "multiple exostoses (HP:0002762); right arm humerus; exostoses leg, bilateral femur/thigh bones" "" "" "" "" "" "" "" "" "" "" "" "0000157346" "01326" "00208728" "02515" "Familial, autosomal dominant" "43y" "multiple exostoses (HP:0002762); bilateral arm humerus; exostoses leg, bilateral femur/thigh bones, bilateral tibia/shin bone" "" "" "" "" "" "" "" "" "" "" "" "0000157347" "01326" "00208729" "02515" "Familial, autosomal dominant" "24y" "multiple exostoses (HP:0002762); bilateral arm humerus; exostoses left radius (HP:0003986); bilateral exostoses ulna (HP:0003985); exostoses leg, bilateral femur/thigh bones, bilateral fibula, bilateral tibia/shin bone" "" "" "" "" "" "" "" "" "" "" "" "0000157348" "01326" "00208730" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157349" "01326" "00208731" "02515" "Familial, autosomal dominant" "18y" "multiple exostoses (HP:0002762); exostoses leg, right femur/thigh bones" "" "" "" "" "" "" "" "" "" "" "" "0000157350" "01326" "00208732" "02515" "Familial, autosomal dominant" "17y" "multiple exostoses (HP:0002762); exostoses ulna (HP:0003985)" "" "" "" "" "" "" "" "" "" "" "" "0000157351" "01326" "00208733" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157352" "01326" "00208734" "02515" "Familial, autosomal dominant" "38y" "multiple exostoses (HP:0002762); arm humerus; exostoses hand (HP:0004276), bilateral carpals, bilateral metacarpals, bilateral phalanges; exostoses leg, femur/thigh bones, bilateral knees; exostoses foot, bilateral talus, bilateral metatarsal, bilateral phalanges; exostoses chest, scapula" "" "" "" "" "" "" "" "" "" "" "" "0000157353" "01326" "00208735" "02515" "Familial, autosomal dominant" "38y" "multiple exostoses (HP:0002762); arm humerus; exostoses hand (HP:0004276), bilateral carpals, bilateral metacarpals, bilateral phalanges; exostoses leg, femur/thigh bones, knee" "" "" "" "" "" "" "" "" "" "" "" "0000157354" "01326" "00208736" "02515" "Familial, autosomal dominant" "33y" "multiple exostoses (HP:0002762); bilateral arm humerus; bilateral exostoses radius (HP:0003986); bilateral exostoses ulna (HP:0003985); exostoses leg, bilateral femur/thigh bones, bilateral knees, bilateral fibula, bilateral tibia/shin bone" "" "" "" "" "" "" "" "" "" "" "" "0000157355" "01326" "00208737" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157356" "01326" "00208738" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157357" "01326" "00208739" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157358" "01326" "00208740" "02515" "Familial, autosomal dominant" "21y" "multiple exostoses (HP:0002762); exostoses right radius (HP:0003986); exostoses left ulna (HP:0003985); exostoses hand (HP:0004276), left metacarpals, right phalanges; exostoses leg, bilateral femur/thigh bones, bilateral tibia/shin bone; exostoses chest, bilateral ilium" "" "" "" "" "" "" "" "" "" "" "" "0000157359" "01326" "00208741" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157360" "01326" "00208742" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157361" "01326" "00208743" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157362" "01326" "00208744" "02515" "Familial, autosomal dominant" "57y" "multiple exostoses (HP:0002762)" "" "" "" "" "" "" "" "" "" "" "" "0000157363" "01326" "00208745" "02515" "Familial, autosomal dominant" "18y" "multiple exostoses (HP:0002762); bilateral arm humerus; bilateral exostoses radius (HP:0003986); bilateral exostoses ulna (HP:0003985); exostoses leg, bilateral femur/thigh bones, bilateral knees, bilateral fibula, bilateral tibia/shin bone; genua valga" "" "" "" "" "" "" "" "" "" "" "" "0000157364" "01326" "00208746" "02515" "Familial, autosomal dominant" "30y" "multiple exostoses (HP:0002762); left arm humerus; exostoses hand (HP:0004276), carpals; exostoses leg, bilateral femur/thigh bones, bilateral knees, left fibula, bilateral tibia/shin bone; exostoses foot, bilateral talus; exostoses chest, scapula, right ribs" "" "" "" "" "" "" "" "" "" "" "" "0000233068" "05804" "00307265" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "EXT2" "multiple exostoses" "" "0000233070" "05804" "00307267" "00006" "Familial, autosomal dominant" "" "see paper" "" "" "" "" "" "" "" "" "EXT2" "multiple exostoses" "" "0000233071" "05804" "00307268" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "EXT2" "multiple exostoses" "" "0000250562" "01711" "00332376" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "EXT1" "multiple osteochondromas" "" "0000272453" "05318" "00377301" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "multiple osteochondromas" "" "0000274150" "04214" "00380299" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000274624" "01326" "00380771" "00000" "Familial" "" "DD;ID; seizures; microcephaly; failure to thrive (Neurological)" "" "" "" "" "" "" "" "" "Autosomal recessive EXT2 related syndrome" "" "" "0000310138" "01326" "00418841" "00006" "Familial, autosomal dominant" "30y" "multiple exostoses (HP:0002762); exostoses right ulna (HP:0003985); exostoses hand (HP:0004276), right phalanges; exostoses leg, bilateral femur/thigh bones, bilateral fibula, bilateral tibia/shin bone; exostoses chest, bilateral calvicular, bilateral scapula" "" "" "" "" "" "" "" "" "EXT2" "multiple exostoses" "" "0000310139" "01326" "00418842" "00006" "Familial, autosomal dominant" "24y" "multiple exostoses (HP:0002762); right arm humerus; exostoses hand (HP:0004276), bilateral phalanges; exostoses leg, bilateral femur/thigh bones, bilateral fibula, bilateral tibia/shin bone; exostoses chest, right scapula" "" "" "" "" "" "" "" "" "EXT2" "multiple exostoses" "" "0000310140" "01326" "00418843" "00006" "Familial, autosomal dominant" "51y" "multiple exostoses (HP:0002762); left arm humerus; exostoses leg, bilateral femur/thigh bones, left fibula, bilateral tibia/shin bone; exostoses chest, ribs" "" "" "" "" "" "" "" "" "EXT2" "multiple exostoses" "" "0000341570" "01326" "00452927" "04449" "Familial, autosomal dominant" "06y04m" "HP:0002762; HP: 0000896; HP: 0003872; HP:0005039" "03y" "06y04m" "HP: 0100777; HP:0003872" "-" "" "" "" "" "EXT2" "exostoses" "" "0000341571" "01326" "00452928" "04449" "Familial, autosomal dominant" "12y" "HP:0002762; HP:0000918; HP: 0000896; HP:0004276; HP:0005039" "07y" "12y" "HP: 0100777; HP:0000918; HP: 0000896; HP: 0100777; HP:0004276; HP:0005039" "-" "" "" "" "" "EXT2" "exostoses" "" "0000341572" "01326" "00452929" "04449" "Familial, autosomal dominant" "42y" "HP:0002762; HP:0005039" "?" "42y" "HP:0005039" "-" "" "" "" "" "EXT2" "exostoses" "" "0000341583" "01326" "00452940" "04449" "Familial, autosomal dominant" "17y10m" "HP:0002762; HP:0003872; P:0004276; HP:0003276; HP:0005039" "04y" "05y" "HP: 0100777; HP: 0012513; HP:0002650; HP: 0005059" "-" "" "" "" "" "EXT2" "exostoses" "" "0000341588" "01326" "00452946" "04449" "Familial, autosomal dominant" "20y" "HP:0002762; HP: 0000896; HP:0003872; P:0004276; HP:0005039" "03y" "05y" "HP: 0012514" "-" "" "" "" "" "EXT2" "exostoses" "" "0000341589" "01326" "00452947" "04449" "Familial, autosomal dominant" "21y" "HP:0002762; HP: 0000896; HP: 0003872; P:0004276; HP:0005039" "12y" "13y" "HP: 0000896; HP: 0012513; HP: 0012514; HP: 0005059" "" "" "" "" "" "EXT2" "exostoses" "" "0000341590" "01326" "00452948" "04449" "Familial, autosomal dominant" "15y04m" "HP:0002762; HP:0003872; HP:0005039" "01y06m" "15y04m" "HP: 0012513; HP: 0012514; HP: 0005059; HP:0002650" "-" "" "" "" "" "EXT2" "exostoses" "" "0000341594" "01326" "00452951" "04449" "Familial, autosomal dominant" "52y" "HP:0002762; HP:0005039" "?" "52y" "HP: 0100777" "-" "" "" "" "" "EXT2" "exostoses" "" "0000341596" "01326" "00452953" "04449" "Familial, autosomal dominant" "18y" "HP:0002762; HP:0003872; P:0004276; HP:0003276; HP:0005039" "02y" "13y05m" "HP: 0100777" "-" "" "" "" "" "EXT2" "exostoses" "" "0000341597" "01326" "00452954" "04449" "Familial, autosomal dominant" "55y" "HP:0002762; HP:0005039" "?" "55y" "HP: 0100777" "-" "" "" "" "" "EXT2" "exostoses" "" "0000341598" "01326" "00452955" "04449" "Familial, autosomal dominant" "20y" "HP:0002762; HP:0003872; HP:0004276; HP:0005039" "00y05m" "10y08m" "HP: 0003872; HP:0002762" "-" "" "" "" "" "EXT2" "exostoses" "" "0000341599" "01326" "00452956" "04449" "Familial, autosomal dominant" "49y" "HP:0002762; HP:0003872" "14y" "49y" "HP: 0100777" "-" "" "" "" "" "EXT2" "exostoses" "" "0000341600" "01326" "00452957" "04449" "Familial, autosomal dominant" "53y" "HP:0002762; HP:0005039" "?" "53y" "HP: 0100777" "-" "" "" "" "" "EXT2" "exostoses" "" "0000341602" "01326" "00452959" "04449" "Familial, autosomal dominant" "25y" "HP:0002762; HP:0003872; P:0004276; HP:0005039" "07y" "25y" "HP: 0100777" "-" "" "" "" "" "EXT2" "exostoses" "" "0000341603" "01326" "00452960" "04449" "Familial, autosomal dominant" "24y" "HP:0002762; HP:0003872; P:0004276; HP:0005039" "06y" "24y" "HP: 0100777" "-" "" "" "" "" "EXT2" "exostoses" "" "0000341605" "01326" "00452962" "04449" "Familial, autosomal dominant" "37y" "HP:0002762; HP:0003872; HP:0005039" "?" "37y" "HP:0002762; HP:0003872; HP:0005039" "-" "" "" "" "" "EXT2" "exostoses" "" "0000341606" "01326" "00452963" "04449" "Familial, autosomal dominant" "18y" "HP:0002762; HP:0003872; HP:0005039" "03y" "05y07m" "HP: 0000896; HP:0000918" "-" "" "" "" "" "EXT2" "exostoses" "" "0000341607" "01326" "00452964" "04449" "Familial, autosomal dominant" "42y" "HP:0002762; HP:0005039" "?" "42y" "HP: 0100777" "-" "" "" "" "" "EXT2" "exostoses" "" "0000341608" "01326" "00452965" "04449" "Familial, autosomal dominant" "09y" "HP:0002762; HP:0005039" "?" "09y" "HP: 0100777" "-" "" "" "" "" "EXT2" "exostoses" "" "0000341609" "01326" "00452966" "04449" "Familial, autosomal dominant" "31y" "HP:0002762; HP:0005039" "?" "31y" "HP: 0100777" "-" "" "" "" "" "EXT2" "exostoses" "" "0000341610" "01326" "00452967" "04449" "Familial, autosomal dominant" "27y" "HP:0002762; HP:0003872; HP:0005039" "?" "27y" "HP: 0100777" "-" "" "" "" "" "EXT2" "exostoses" "" "0000341615" "01326" "00452972" "04449" "Familial, autosomal dominant" "28y" "HP:0002762; HP:0005039" "14y" "28y" "HP:0002653" "-" "" "" "" "" "EXT2" "exostoses" "" "0000341616" "01326" "00452973" "04449" "Familial, autosomal dominant" "17y" "HP:0002762; HP: 0000896; HP: 0003872; HP:0005039" "03y" "07y" "HP:0005039; HP:0002762" "-" "" "" "" "" "EXT2" "exostoses" "" "0000341617" "01326" "00452974" "04449" "Familial, autosomal dominant" "11y05m" "HP:0002762; HP:0005039" "05y" "09y" "HP: 0100777" "-" "" "" "" "" "EXT2" "exostoses" "" "0000341618" "01326" "00452975" "04449" "Familial, autosomal dominant" "33y" "HP:0002762; HP:0005039" "?" "33y" "HP: 0100777" "-" "" "" "" "" "EXT2" "exostoses" "" "0000341624" "01326" "00452980" "04449" "Familial, autosomal dominant" "13y08m" "HP:0002762; HP:0000918; HP:0004276; HP:0005039" "?" "13y08m" "HP:0002762" "-" "" "" "" "" "EXT2" "exostoses" "" "0000341625" "01326" "00452981" "04449" "Familial, autosomal dominant" "25y01m" "HP:0002762; HP:0003872; HP:0005039" "?" "13y" "HP:0002762; HP:0003872; HP:0005039" "-" "" "" "" "" "EXT2" "exostoses" "" "0000341626" "01326" "00452982" "04449" "Familial, autosomal dominant" "25y" "HP:0002762; HP: 0000896; HP:0004276; HP:0005039" "?" "25y" "HP: 0000896; HP:0004276; HP:0005039" "-" "" "" "" "" "EXT2" "exostoses" "" "0000341627" "01326" "00452983" "04449" "Familial, autosomal dominant" "14y" "HP:0002762; HP:0000918; HP: 0000896; HP:0003872; HP:0005039" "03y" "07y02m" "HP:0002315, HP: 0100777, HP:0000918" "-" "" "" "" "" "EXT2" "exostoses" "" "0000341628" "01326" "00452984" "04449" "Familial, autosomal dominant" "13y" "HP:0002762; HP:0005039" "?" "13y" "HP:0002540; HP: 0100777" "-" "" "" "" "" "EXT2" "exostoses" "" "0000341629" "01326" "00452985" "04449" "Familial, autosomal dominant" "45y" "HP:0002762; HP:0002650; HP: 0003872; HP:0004276; HP:0005039" "00y01m" "14y" "HP:0033748; HP: 0012378; HP: 0012514; HP: 0005059" "-" "" "" "" "" "EXT2" "exostoses" "" "0000341630" "01326" "00452986" "04449" "Familial, autosomal dominant" "15y" "HP:0002762; HP:0003872; HP:0005039" "05y" "15y" "HP:0002762; HP:0003872; HP:0005039" "-" "" "" "" "" "EXT2" "exostoses" "" "0000341631" "01326" "00452987" "04449" "Familial, autosomal dominant" "06y04m" "HP:0002762; HP:0005039" "00y01m" "06y04m" "HP:0002762" "-" "" "" "" "" "EXT2" "exostoses" "" "0000341632" "01326" "00452988" "04449" "Familial, autosomal dominant" "08y" "HP:0002762; HP:0000918; HP: 0000896; HP:0005039" "01y" "02y" "HP: 0012514; HP: 0000896" "-" "" "" "" "" "EXT2" "exostoses" "" "0000342077" "01326" "00453414" "04740" "Familial, autosomal dominant" "19y" "HP:0002762; HP:0003872; HP:0003276; HP:0005039" "08y" "16y" "HP:0030838; HP: 0012513; HP:0002355" "-" "" "" "" "" "EXT2" "exostoses" "" "0000352066" "04184" "00466703" "00006" "Unknown" "10y" "see paper; ..., small for gestational age, growth hormone deficiency; height SDS-2.7; birth weight SDS-2.39, length SDS-3.43" "" "" "" "" "" "" "" "" "" "short stature" "" ## Screenings ## Do not remove or alter this header ## ## Count = 476 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000101067" "00100647" "1" "01926" "01926" "2017-03-07 17:07:09" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000119144" "00118681" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 10:03:51" "SEQ" "DNA" "" "" "0000119145" "00118682" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 15:07:19" "SEQ" "DNA" "Blood" "" "0000119146" "00118683" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 15:08:20" "SEQ" "DNA" "Blood" "" "0000119147" "00118684" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 15:08:30" "SEQ" "DNA" "Blood" "" "0000119148" "00118685" "1" "02152" "02033" "2009-02-10 12:20:43" "02033" "2009-02-20 15:08:38" "SEQ" "DNA" "Blood" "" "0000119149" "00118686" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 15:08:52" "SEQ" "DNA" "Blood" "" "0000119150" "00118687" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 15:09:04" "SEQ" "DNA" "" "" "0000119151" "00118688" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 15:09:36" "SEQ" "DNA" "Blood" "" "0000119152" "00118689" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 15:09:59" "SEQ" "DNA" "Blood" "" "0000119153" "00118690" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 15:07:38" "SEQ" "DNA" "Blood" "" "0000119154" "00118691" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 15:10:11" "SEQ" "DNA" "Blood" "" "0000119155" "00118692" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-25 10:33:09" "SEQ" "DNA" "" "" "0000119156" "00118693" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 10:04:27" "SEQ" "DNA" "" "" "0000119157" "00118694" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-25 10:35:16" "SEQ" "DNA" "" "" "0000119158" "00118695" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-25 10:34:59" "SEQ" "DNA" "" "" "0000119159" "00118696" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-25 10:33:47" "SEQ" "DNA" "" "" "0000119160" "00118697" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-25 10:33:35" "SEQ" "DNA" "" "" "0000119161" "00118698" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 11:25:30" "SEQ" "DNA" "" "" "0000119162" "00118699" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-25 10:34:46" "SEQ" "DNA" "" "" "0000119163" "00118700" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 11:31:04" "SEQ" "DNA" "" "" "0000119164" "00118701" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:32:36" "SEQ" "DNA" "" "" "0000119165" "00118702" "1" "02210" "02033" "2010-10-01 12:18:11" "02033" "2010-10-01 12:37:52" "SEQ" "DNA" "" "" "0000119166" "00118703" "1" "02210" "02033" "2011-02-22 19:55:03" "02033" "2011-02-22 19:55:13" "MLPA" "DNA" "Blood" "" "0000119167" "00118704" "1" "02210" "02033" "2011-01-26 09:52:41" "02033" "2011-02-22 20:01:27" "MLPA" "DNA" "Blood" "" "0000119168" "00118705" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 15:07:01" "SEQ" "DNA" "Blood" "" "0000119169" "00118706" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-25 10:34:32" "SEQ" "DNA" "" "" "0000119170" "00118707" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:32:48" "SEQ" "DNA" "" "" "0000119171" "00118708" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:33:02" "SEQ" "DNA" "Blood" "" "0000119172" "00118709" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 08:54:30" "SEQ" "DNA" "" "" "0000119173" "00118710" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:35:05" "DHPLC" "DNA" "Blood" "" "0000119174" "00118711" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:35:20" "DHPLC" "DNA" "" "" "0000119175" "00118712" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:49:29" "DHPLC;SSCA" "DNA" "Blood" "" "0000119176" "00118713" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:49:15" "DHPLC;SSCA" "DNA" "Blood" "" "0000119177" "00118714" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:48:59" "DHPLC;SSCA" "DNA" "Blood" "" "0000119178" "00118715" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 08:55:07" "SEQ" "DNA" "Blood" "" "0000119179" "00118716" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 08:55:28" "SEQ" "DNA" "Blood" "" "0000119180" "00118717" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:00:46" "SEQ" "DNA" "" "" "0000119181" "00118718" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:01:31" "SEQ" "DNA" "" "" "0000119182" "00118719" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:02:11" "SEQ" "DNA" "" "" "0000119183" "00118720" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:02:52" "SEQ" "DNA" "" "" "0000119184" "00118721" "1" "02215" "02215" "2009-10-21 13:37:00" "02215" "2017-02-20 11:08:19" "DHPLC" "DNA" "Blood" "" "0000119185" "00118722" "1" "02215" "02215" "2009-10-21 13:50:15" "02215" "2017-02-20 11:09:00" "DHPLC" "DNA" "Blood" "" "0000119186" "00118723" "1" "02215" "02215" "2010-02-15 10:27:15" "02215" "2017-02-20 11:09:43" "DHPLC" "DNA" "Blood" "" "0000119187" "00118724" "1" "02215" "02215" "2010-03-17 16:08:19" "02033" "2010-03-18 08:24:24" "DHPLC" "DNA" "Blood" "" "0000119188" "00118725" "1" "02215" "02215" "2010-03-17 16:37:37" "02033" "2010-03-18 08:25:57" "DHPLC" "DNA" "Blood" "" "0000119189" "00118726" "1" "02215" "02215" "2010-03-17 16:39:37" "02033" "2010-03-18 08:26:16" "DHPLC" "DNA" "Blood" "" "0000119190" "00118727" "1" "02215" "02215" "2011-11-08 10:19:29" "02215" "2017-02-20 11:11:01" "DHPLC" "DNA" "Blood" "" "0000119191" "00118728" "1" "02215" "02215" "2011-12-13 11:56:27" "02215" "2017-02-20 11:11:45" "SEQ" "DNA" "Blood" "" "0000119192" "00118729" "1" "02215" "02215" "2011-12-13 12:01:43" "02215" "2017-02-20 11:12:40" "SEQ" "DNA" "Blood" "" "0000119193" "00118730" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:31:38" "?" "DNA" "Blood, Mouth swabs" "" "0000119194" "00118731" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:03:44" "SEQ" "DNA" "" "" "0000119195" "00118732" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2010-03-24 13:53:45" "SEQ" "DNA" "" "" "0000119196" "00118733" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:05:18" "SEQ" "DNA" "" "" "0000119197" "00118734" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:49:42" "DHPLC;SSCA" "DNA" "Blood" "" "0000119198" "00118735" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:35:33" "DHPLC" "DNA" "" "" "0000119199" "00118736" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:05:55" "SEQ" "DNA" "" "" "0000119200" "00118737" "1" "02215" "02215" "2010-03-17 16:25:54" "02033" "2010-03-18 08:27:07" "DHPLC" "DNA" "Blood" "" "0000119201" "00118738" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:35:46" "DHPLC" "DNA" "Blood" "" "0000119202" "00118739" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 08:57:48" "SEQ" "DNA" "Blood" "" "0000119203" "00118740" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-03-05 14:50:28" "MLPA;SEQ" "DNA" "Blood" "" "0000119204" "00118741" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 16:30:44" "SEQ" "DNA" "Blood" "" "0000119205" "00118742" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:30:06" "SSCA" "DNA" "Blood" "" "0000119206" "00118743" "1" "02210" "02033" "2009-10-13 15:53:36" "" "" "SEQ" "DNA" "Blood" "" "0000119207" "00118744" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 08:58:34" "SEQ" "DNA" "" "" "0000119208" "00118745" "1" "02210" "02033" "2009-10-13 15:53:36" "" "" "SEQ" "DNA" "" "" "0000119209" "00118746" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:06:34" "SEQ" "DNA" "" "" "0000119210" "00118747" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:36:01" "DHPLC" "DNA" "Blood" "" "0000119211" "00118748" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:30:23" "SSCA" "DNA" "Blood" "" "0000119212" "00118749" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:36:13" "DHPLC" "DNA" "Blood" "" "0000119213" "00118750" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 08:59:08" "SEQ" "DNA" "" "" "0000119214" "00118751" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-03-06 13:19:09" "SSCA" "DNA" "Blood" "" "0000119215" "00118752" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:07:20" "SEQ" "DNA" "" "" "0000119216" "00118753" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-03-06 13:19:09" "SEQ" "DNA" "Blood" "" "0000119217" "00118754" "1" "02215" "02215" "2010-06-08 17:10:17" "02033" "2010-06-09 10:06:48" "DHPLC" "DNA" "Blood" "" "0000119218" "00118755" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:31:11" "SEQ" "DNA" "Blood" "" "0000119219" "00118756" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:36:23" "DHPLC" "DNA" "" "" "0000119220" "00118757" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 08:59:35" "SEQ" "DNA" "Blood" "" "0000119221" "00118758" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:08:05" "SEQ" "DNA" "" "" "0000119222" "00118759" "1" "02210" "02033" "2010-02-01 11:33:39" "02033" "2010-02-24 11:48:49" "SEQ" "DNA" "Blood" "" "0000119223" "00118760" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:31:45" "SSCA" "DNA" "Blood" "" "0000119224" "00118761" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 09:00:08" "SEQ" "DNA" "" "" "0000119225" "00118762" "1" "02215" "02215" "2009-10-20 17:20:18" "02215" "2017-02-20 11:13:42" "DHPLC" "DNA" "Blood" "" "0000119226" "00118763" "1" "02210" "02033" "2009-12-03 13:40:28" "" "" "SEQ" "DNA" "" "" "0000119227" "00118764" "1" "02152" "02033" "2009-02-10 12:20:43" "02033" "2009-02-23 09:00:21" "SEQ" "DNA" "Blood" "" "0000119228" "00118765" "1" "02172" "02172" "2013-11-20 12:04:24" "" "" "SEQ" "DNA" "Blood" "" "0000119229" "00118766" "1" "02152" "02033" "2009-02-10 12:20:43" "02033" "2009-02-23 09:00:36" "SEQ" "DNA" "Blood" "" "0000119230" "00118767" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:36:34" "DHPLC" "DNA" "" "" "0000119231" "00118768" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:37:02" "DHPLC" "DNA" "Blood" "" "0000119232" "00118769" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2010-03-24 13:49:19" "SEQ" "DNA" "Blood" "" "0000119233" "00118770" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:52:03" "DHPLC;SSCA" "DNA" "Blood" "" "0000119234" "00118771" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:52:15" "DHPLC;SSCA" "DNA" "Blood" "" "0000119235" "00118772" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:08:46" "SEQ" "DNA" "" "" "0000119236" "00118773" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:09:28" "SEQ" "DNA" "" "" "0000119237" "00118774" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:10:15" "SEQ" "DNA" "" "" "0000119238" "00118775" "1" "02218" "02218" "2013-06-26 02:49:13" "" "" "PCR" "DNA" "Blood" "" "0000119239" "00118776" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-03-06 13:19:09" "SSCA" "DNA" "Blood" "" "0000119240" "00118777" "1" "02210" "02033" "2011-01-21 14:28:52" "" "" "SEQ" "DNA" "Blood" "" "0000119241" "00118778" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 09:01:52" "SEQ" "DNA" "Blood" "" "0000119242" "00118779" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:37:13" "DHPLC" "DNA" "Blood" "" "0000119243" "00118780" "1" "02210" "02033" "2009-03-06 10:45:14" "02033" "2009-03-06 20:35:58" "SEQ" "DNA" "Blood" "" "0000119244" "00118781" "1" "02210" "02033" "2010-02-24 12:08:32" "" "" "SEQ" "DNA" "Blood" "" "0000119245" "00118782" "1" "02210" "02033" "2009-10-13 15:53:36" "" "" "SEQ" "DNA" "" "" "0000119246" "00118783" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:37:26" "DHPLC" "DNA" "Blood" "" "0000119247" "00118784" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 09:02:09" "SEQ" "DNA" "Blood" "" "0000119248" "00118785" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-03-06 13:19:09" "SSCA" "DNA" "Blood" "" "0000119249" "00118786" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 09:07:22" "SEQ" "DNA" "" "" "0000119250" "00118787" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 09:07:33" "SEQ" "DNA" "" "" "0000119251" "00118788" "1" "02213" "02033" "2009-02-18 13:20:28" "02033" "2009-02-23 09:07:43" "SEQ" "DNA" "" "" "0000119252" "00118789" "1" "02210" "02033" "2009-03-06 10:45:14" "02033" "2009-03-06 20:33:40" "SEQ" "DNA" "Blood" "" "0000119253" "00118790" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:34:00" "SSCA" "DNA" "Blood" "" "0000119254" "00118791" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:34:20" "SSCA" "DNA" "Blood" "" "0000119255" "00118792" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-03-06 13:19:09" "SSCA" "DNA" "Blood" "" "0000119256" "00118793" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:25:32" "SEQ" "DNA" "" "" "0000119257" "00118794" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:35:00" "SSCA" "DNA" "Blood" "" "0000119258" "00118795" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 09:07:56" "SEQ" "DNA" "Blood" "" "0000119259" "00118796" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:10:59" "SEQ" "DNA" "" "" "0000119260" "00118797" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:11:41" "SEQ" "DNA" "" "" "0000119261" "00118798" "1" "02213" "02033" "2009-02-18 13:20:28" "02033" "2009-02-23 09:08:31" "SEQ" "DNA" "" "" "0000119262" "00118799" "1" "02213" "02033" "2009-02-18 13:20:28" "02033" "2009-02-23 09:08:43" "SEQ" "DNA" "" "" "0000119263" "00118800" "1" "02210" "02033" "2009-03-06 10:45:14" "02033" "2009-03-06 20:34:01" "SEQ" "DNA" "Blood" "" "0000119264" "00118801" "1" "02210" "02033" "2009-10-13 15:53:36" "" "" "SEQ" "DNA" "" "" "0000119265" "00118802" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 09:08:54" "SEQ" "DNA" "" "" "0000119266" "00118803" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:49:56" "DHPLC;SSCA" "DNA" "Blood" "" "0000119267" "00118804" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-03-05 14:50:28" "MLPA;SEQ" "DNA" "Blood" "" "0000119268" "00118805" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-03-05 14:50:28" "MLPA;SEQ" "DNA" "Blood" "" "0000119269" "00118806" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:50:09" "DHPLC;SSCA" "DNA" "Blood" "" "0000119270" "00118807" "1" "02215" "02215" "2009-10-21 13:13:41" "02215" "2017-02-20 11:14:29" "DHPLC" "DNA" "Blood" "" "0000119271" "00118808" "1" "02210" "02033" "2010-02-16 12:11:34" "02033" "2010-02-16 12:12:56" "SEQ" "DNA" "" "" "0000119272" "00118809" "1" "02213" "02033" "2009-02-18 13:20:28" "02033" "2009-02-23 09:09:04" "SEQ" "DNA" "" "" "0000119273" "00118810" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-03-05 14:50:28" "MLPA;SEQ" "DNA" "Blood" "" "0000119274" "00118811" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:50:35" "DHPLC;SSCA" "DNA" "Blood" "" "0000119275" "00118812" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:25:48" "SEQ" "DNA" "Blood" "" "0000119276" "00118813" "1" "02152" "02033" "2009-02-10 12:20:43" "02033" "2009-02-23 09:09:23" "SEQ" "DNA" "Blood" "" "0000119277" "00118814" "1" "02210" "02033" "2010-02-24 11:55:16" "02033" "2010-02-24 11:56:23" "SEQ" "DNA" "Blood" "" "0000119278" "00118815" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:50:22" "DHPLC;SSCA" "DNA" "Blood" "" "0000119279" "00118816" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:26:06" "SEQ" "RNA" "Blood" "" "0000119280" "00118817" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:32:03" "SEQ" "DNA" "" "" "0000119281" "00118818" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:37:41" "DHPLC" "DNA" "" "" "0000119282" "00118819" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 12:18:26" "SEQ" "DNA" "" "" "0000119283" "00118820" "1" "02210" "02033" "2009-10-13 15:53:36" "" "" "SEQ" "DNA" "" "" "0000119284" "00118821" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:35:17" "SSCA" "DNA" "Blood" "" "0000119285" "00118822" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 09:09:39" "SEQ" "DNA" "Blood" "" "0000119286" "00118823" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:35:34" "SSCA" "DNA" "Blood" "" "0000119287" "00118824" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 09:09:54" "SEQ" "DNA" "Blood" "" "0000119288" "00118825" "1" "02210" "02033" "2010-11-15 10:13:05" "02033" "2010-11-15 10:13:45" "SEQ" "DNA" "" "" "0000119289" "00118826" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:50:50" "DHPLC;SSCA" "DNA" "Blood" "" "0000119290" "00118827" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:37:51" "DHPLC" "DNA" "" "" "0000119291" "00118828" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-03-05 14:50:28" "MLPA;SEQ" "DNA" "Blood" "" "0000119292" "00118829" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:12:16" "SEQ" "DNA" "" "" "0000119293" "00118830" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:12:52" "SEQ" "DNA" "" "" "0000119294" "00118831" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:13:28" "SEQ" "DNA" "" "" "0000119295" "00118832" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:14:15" "SEQ" "DNA" "" "" "0000119296" "00118833" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:15:04" "SEQ" "DNA" "" "" "0000119297" "00118834" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:16:12" "SEQ" "DNA" "" "" "0000119298" "00118835" "1" "02213" "02033" "2009-02-18 13:20:28" "02033" "2009-02-23 09:11:26" "SEQ" "DNA" "" "" "0000119299" "00118836" "1" "02210" "02033" "2009-03-06 10:45:14" "02033" "2009-03-06 20:34:19" "SEQ" "DNA" "Blood" "" "0000119300" "00118837" "1" "02215" "02215" "2011-12-13 12:05:21" "02215" "2017-02-20 11:15:03" "SEQ" "DNA" "Blood" "" "0000119301" "00118838" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:35:59" "SSCA" "DNA" "" "" "0000119302" "00118839" "1" "02210" "02033" "2011-01-21 14:25:30" "" "" "SEQ" "DNA" "Blood" "" "0000119303" "00118840" "1" "02152" "02033" "2009-02-10 12:20:43" "02033" "2009-02-23 09:11:41" "SEQ" "DNA" "Blood" "" "0000119304" "00118841" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:16:54" "SEQ" "DNA" "" "" "0000119305" "00118842" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:26:28" "SEQ" "DNA" "" "" "0000119306" "00118843" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:36:17" "SSCA" "DNA" "Blood" "" "0000119307" "00118844" "1" "02214" "02033" "2009-03-06 10:45:14" "02033" "2009-03-06 20:32:32" "SEQ" "DNA" "Blood" "" "0000119308" "00118845" "1" "02214" "02033" "2009-03-06 10:45:14" "02033" "2009-03-06 20:40:16" "SEQ" "DNA" "Blood" "" "0000119309" "00118846" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:36:35" "SEQ" "DNA" "Blood" "" "0000119310" "00118847" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:39:36" "DHPLC" "DNA" "Blood" "" "0000119311" "00118848" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:36:53" "SSCA" "DNA" "Blood" "" "0000119312" "00118849" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-03-05 14:50:28" "MLPA;SEQ" "DNA" "Blood" "" "0000119313" "00118850" "1" "02152" "02033" "2009-02-10 12:20:43" "02033" "2009-02-23 09:12:25" "SEQ" "DNA" "Blood" "" "0000119314" "00118851" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-03-05 14:50:28" "MLPA;SEQ" "DNA" "Blood" "" "0000119315" "00118852" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 16:31:57" "SEQ" "DNA" "Blood" "" "0000119316" "00118853" "1" "02215" "02215" "2012-04-05 16:04:24" "02215" "2017-02-20 11:15:51" "DHPLC" "DNA" "Blood" "" "0000119317" "00118854" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:39:46" "DHPLC" "DNA" "" "" "0000119318" "00118855" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:17:30" "SEQ" "DNA" "" "" "0000119319" "00118856" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:37:21" "SSCA" "DNA" "Blood" "" "0000119320" "00118857" "1" "02213" "02033" "2009-02-18 13:20:28" "02033" "2009-02-23 09:12:51" "SEQ" "DNA" "" "" "0000119321" "00118858" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-03-06 13:19:09" "SEQ" "DNA" "Blood" "" "0000119322" "00118859" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:39:14" "SSCA" "DNA" "Blood" "" "0000119323" "00118860" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-03-05 14:50:28" "MLPA;SEQ" "DNA" "Blood" "" "0000119324" "00118861" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:18:03" "SEQ" "DNA" "" "" "0000119325" "00118862" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:18:40" "SEQ" "DNA" "" "" "0000119326" "00118863" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 09:13:32" "SEQ" "DNA" "Blood" "" "0000119327" "00118864" "1" "02210" "02033" "2011-02-22 19:57:51" "" "" "SEQ" "DNA" "Blood" "" "0000119328" "00118865" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:34:02" "?" "DNA" "Blood, Mouth swabs" "" "0000119329" "00118866" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:38:04" "DHPLC" "DNA" "Blood" "" "0000119330" "00118867" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:38:14" "DHPLC" "DNA" "" "" "0000119331" "00118868" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:19:24" "SEQ" "DNA" "" "" "0000119332" "00118869" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:39:34" "SSCA" "DNA" "Blood" "" "0000119333" "00118870" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:38:30" "DHPLC" "DNA" "Blood" "" "0000119334" "00118871" "1" "02213" "02033" "2009-02-18 13:20:29" "02033" "2009-02-23 09:13:56" "SEQ" "DNA" "" "" "0000119335" "00118872" "1" "02210" "02033" "2009-03-06 10:45:14" "02033" "2009-03-06 20:35:15" "SEQ" "DNA" "Blood" "" "0000119336" "00118873" "1" "02210" "02033" "2011-01-21 14:26:57" "" "" "SEQ" "DNA" "Blood" "" "0000119337" "00118874" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:34:16" "?" "DNA" "Blood, Mouth swabs" "" "0000119338" "00118875" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:34:30" "?" "DNA" "Blood, Mouth swabs" "" "0000119339" "00118876" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:51:05" "DHPLC;SSCA" "DNA" "Blood" "" "0000119340" "00118877" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:38:40" "DHPLC" "DNA" "" "" "0000119341" "00118878" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 09:14:09" "SEQ" "DNA" "" "" "0000119342" "00118879" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:38:09" "SSCA" "DNA" "Blood" "" "0000119343" "00118880" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:26:45" "SEQ" "DNA" "Blood" "" "0000119344" "00118881" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 09:15:07" "SEQ" "DNA" "Blood" "" "0000119345" "00118882" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 09:15:19" "SEQ" "DNA" "Blood" "" "0000119346" "00118883" "1" "02210" "02033" "2009-03-06 10:45:14" "" "" "SEQ" "DNA" "Blood" "" "0000119347" "00118884" "1" "02210" "02033" "2009-10-13 15:53:36" "" "" "SEQ" "DNA" "" "" "0000119348" "00118885" "1" "02210" "02033" "2009-10-13 15:53:36" "" "" "SEQ" "DNA" "" "" "0000119349" "00118886" "1" "02210" "02033" "2009-10-13 15:53:36" "" "" "SEQ" "DNA" "" "" "0000119350" "00118887" "1" "02215" "02215" "2009-10-20 17:31:11" "02215" "2017-02-20 11:16:31" "DHPLC" "DNA" "Blood" "" "0000119351" "00118888" "1" "02215" "02215" "2010-03-17 16:28:27" "02033" "2010-03-18 08:28:19" "DHPLC" "DNA" "Blood" "" "0000119352" "00118889" "1" "02210" "02033" "2011-01-21 14:23:53" "" "" "SEQ" "DNA" "Blood" "" "0000119353" "00118890" "1" "02215" "02215" "2012-04-05 15:37:44" "02215" "2017-02-20 11:17:09" "DHPLC" "DNA" "Blood" "" "0000119354" "00118891" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:37:51" "SSCA" "DNA" "" "" "0000119355" "00118892" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:19:58" "SEQ" "DNA" "" "" "0000119356" "00118893" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:20:35" "SEQ" "DNA" "" "" "0000119357" "00118894" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:21:30" "SEQ" "DNA" "" "" "0000119358" "00118895" "1" "02215" "02215" "2010-02-15 10:25:30" "02215" "2017-02-20 11:17:50" "DHPLC" "DNA" "Blood" "" "0000119359" "00118896" "1" "02152" "02033" "2009-02-10 12:20:43" "02033" "2009-02-23 09:16:41" "SEQ" "DNA" "Blood" "" "0000119360" "00118897" "1" "02215" "02215" "2012-04-05 15:44:11" "02215" "2017-02-20 11:18:30" "DHPLC" "DNA" "Blood" "" "0000119361" "00118898" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 09:16:29" "SEQ" "DNA" "Blood" "" "0000119362" "00118899" "1" "02210" "02033" "2009-03-06 10:45:14" "" "" "SEQ" "DNA" "Blood" "" "0000119363" "00118900" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-03-05 14:50:28" "MLPA;SEQ" "DNA" "Blood" "" "0000119364" "00118901" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:38:55" "DHPLC" "DNA" "Blood" "" "0000119365" "00118902" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-03-05 14:50:28" "MLPA;SEQ" "DNA" "Blood" "" "0000119366" "00118903" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:39:56" "DHPLC" "DNA" "" "" "0000119367" "00118904" "1" "02210" "02033" "2009-10-13 15:53:36" "" "" "SEQ" "DNA" "" "" "0000119368" "00118905" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:40:09" "DHPLC" "DNA" "Blood" "" "0000119369" "00118906" "1" "02213" "02033" "2009-02-18 13:20:29" "02033" "2009-02-23 09:21:01" "SEQ" "DNA" "" "" "0000119370" "00118907" "1" "02210" "02033" "2009-03-06 10:45:14" "" "" "SEQ" "DNA" "Blood" "" "0000119371" "00118908" "1" "02210" "02033" "2009-03-06 10:45:14" "02033" "2009-03-06 20:35:31" "SEQ" "DNA" "Blood" "" "0000119372" "00118909" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:41:44" "DHPLC" "DNA" "" "" "0000119373" "00118910" "1" "02213" "02033" "2009-02-18 13:20:29" "02033" "2009-02-23 09:21:12" "SEQ" "DNA" "" "" "0000119374" "00118911" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-03-05 14:50:28" "MLPA;SEQ" "DNA" "Blood" "" "0000119375" "00118912" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:41:56" "DHPLC" "DNA" "" "" "0000119376" "00118913" "1" "02152" "02033" "2009-02-10 12:20:43" "02033" "2009-02-23 09:21:25" "SEQ" "DNA" "Blood" "" "0000119377" "00118914" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:41:45" "SSCA" "DNA" "Blood" "" "0000119378" "00118915" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:42:08" "DHPLC" "DNA" "" "" "0000119379" "00118916" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 09:22:26" "SEQ" "DNA" "Blood" "" "0000119380" "00118917" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:22:15" "SEQ" "DNA" "" "" "0000119381" "00118918" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:22:51" "SEQ" "DNA" "" "" "0000119382" "00118919" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:23:30" "SEQ" "DNA" "" "" "0000119383" "00118920" "1" "02210" "02033" "2009-10-13 15:53:36" "" "" "SEQ" "DNA" "" "" "0000119384" "00118921" "1" "02210" "02033" "2011-02-22 19:58:56" "02033" "2011-03-23 11:00:19" "SEQ" "DNA" "Blood" "" "0000119385" "00118922" "1" "02210" "02033" "2011-02-22 19:53:50" "" "" "SEQ" "DNA" "Blood" "" "0000119386" "00118923" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:42:18" "DHPLC" "DNA" "" "" "0000119387" "00118924" "1" "02215" "02215" "2009-10-20 17:40:39" "02215" "2017-02-20 11:19:41" "DHPLC" "DNA" "Blood" "" "0000119388" "00118925" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:38:23" "SSCA" "DNA" "Blood" "" "0000119389" "00118926" "1" "02210" "02033" "2009-10-13 15:53:36" "" "" "SEQ" "DNA" "" "" "0000119390" "00118927" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 11:57:49" "SEQ" "DNA" "Blood" "" "0000119391" "00118928" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 11:58:06" "SEQ" "DNA" "Blood" "" "0000119392" "00118929" "1" "02210" "02033" "2009-12-04 12:23:20" "" "" "SEQ" "DNA" "Blood" "" "0000119393" "00118930" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:24:36" "SEQ" "DNA" "" "" "0000119394" "00118931" "1" "02210" "02033" "2009-10-13 15:53:36" "" "" "SEQ" "DNA" "" "" "0000119395" "00118932" "1" "02210" "02033" "2011-01-21 14:32:46" "" "" "SEQ" "DNA" "Blood" "" "0000119396" "00118933" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 11:58:39" "SEQ" "DNA" "Blood" "" "0000119397" "00118934" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:27:08" "SEQ" "DNA" "" "" "0000119398" "00118935" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:38:42" "SEQ" "DNA" "" "" "0000119399" "00118936" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:27:37" "SEQ" "DNA" "" "" "0000119400" "00118937" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:27:21" "SEQ" "DNA" "Blood" "" "0000119401" "00118938" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:27:36" "SEQ" "DNA" "Blood" "" "0000119402" "00118939" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 11:59:29" "SEQ" "DNA" "" "" "0000119403" "00118940" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:42:32" "DHPLC" "DNA" "Blood" "" "0000119404" "00118941" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:28:12" "SEQ" "DNA" "" "" "0000119405" "00118942" "1" "02152" "02033" "2009-02-10 12:20:43" "02033" "2009-02-23 12:00:03" "SEQ" "DNA" "Blood" "" "0000119406" "00118943" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:00:19" "SEQ" "DNA" "Blood" "" "0000119407" "00118944" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:42:43" "DHPLC" "DNA" "" "" "0000119408" "00118945" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:00:35" "SEQ" "DNA" "Blood" "" "0000119409" "00118946" "1" "02152" "02033" "2009-02-10 12:20:43" "02033" "2009-02-23 12:00:56" "SEQ" "DNA" "Blood" "" "0000119410" "00118947" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:27:58" "SEQ" "DNA" "" "" "0000119411" "00118948" "1" "02210" "02033" "2009-12-04 11:35:33" "" "" "SEQ" "DNA" "Blood" "" "0000119412" "00118949" "1" "02210" "02033" "2009-10-13 15:53:36" "" "" "SEQ" "DNA" "" "" "0000119413" "00118950" "1" "02210" "02210" "2009-02-20 08:24:15" "02033" "2009-02-20 12:12:59" "SEQ" "DNA" "Blood" "" "0000119414" "00118951" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:41:03" "DHPLC" "DNA" "Blood" "" "0000119415" "00118952" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:28:44" "SEQ" "DNA" "" "" "0000119416" "00118953" "1" "02152" "02033" "2009-02-10 12:20:43" "02033" "2009-02-20 15:08:01" "SEQ" "DNA" "Blood" "" "0000119417" "00118954" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:28:15" "SEQ" "DNA" "Blood" "" "0000119418" "00118955" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:28:32" "SEQ" "DNA" "Blood" "" "0000119419" "00118956" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:29:18" "SEQ" "DNA" "" "" "0000119420" "00118957" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:42:52" "DHPLC" "DNA" "" "" "0000119421" "00118958" "1" "02215" "02215" "2011-11-07 10:41:53" "02215" "2017-02-20 11:20:30" "DHPLC" "DNA" "Blood" "" "0000119422" "00118959" "1" "02215" "02215" "2011-11-30 14:41:30" "02215" "2017-02-20 11:21:40" "DHPLC" "DNA" "Blood" "" "0000119423" "00118960" "1" "02215" "02215" "2010-03-17 16:30:23" "02033" "2010-03-18 08:43:26" "DHPLC" "DNA" "Blood" "" "0000119424" "00118961" "1" "02210" "02033" "2009-10-13 15:53:36" "" "" "SEQ" "DNA" "" "" "0000119425" "00118962" "1" "02210" "02033" "2009-12-03 13:43:51" "02033" "2009-12-03 13:45:03" "SEQ" "DNA" "" "" "0000119426" "00118963" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:31:01" "SEQ" "DNA" "" "" "0000119427" "00118964" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 16:31:17" "SEQ" "DNA" "Blood" "" "0000119428" "00118965" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:41:17" "DHPLC" "DNA" "" "" "0000119429" "00118966" "1" "02210" "02033" "2011-01-21 14:35:01" "" "" "SEQ" "DNA" "Blood" "" "0000119430" "00118967" "1" "02210" "02033" "2009-10-13 15:53:36" "" "" "SEQ" "DNA" "Blood" "" "0000119431" "00118968" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:46:00" "SEQ" "DNA" "" "" "0000119432" "00118969" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:47:13" "SEQ" "DNA" "" "" "0000119433" "00118970" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:45:56" "DHPLC" "DNA" "" "" "0000119434" "00118971" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:05:08" "SEQ" "DNA" "Blood" "" "0000119435" "00118972" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:39:50" "SSCA" "DNA" "Blood" "" "0000119436" "00118973" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:43:06" "DHPLC" "DNA" "Blood" "" "0000119437" "00118974" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-25 10:33:23" "SEQ" "DNA" "" "" "0000119438" "00118975" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-03-05 14:50:28" "MLPA;SEQ" "DNA" "Blood" "" "0000119439" "00118976" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-03-05 14:50:28" "MLPA;SEQ" "DNA" "Blood" "" "0000119440" "00118977" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:05:34" "SEQ" "DNA" "Blood" "" "0000119441" "00118978" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 16:33:01" "SEQ" "DNA" "Blood" "" "0000119442" "00118979" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 16:33:35" "SEQ" "DNA" "Blood" "" "0000119443" "00118980" "1" "02152" "02033" "2009-02-10 12:20:43" "02033" "2009-02-23 12:07:06" "SEQ" "DNA" "Blood" "" "0000119444" "00118981" "1" "02152" "02033" "2009-02-10 12:20:43" "02033" "2009-02-23 12:07:23" "SEQ" "DNA" "Blood" "" "0000119445" "00118982" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:07:41" "SEQ" "DNA" "Blood" "" "0000119446" "00118983" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:42:00" "SSCA" "DNA" "Blood" "" "0000119447" "00118984" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-03-05 14:50:28" "MLPA;SEQ" "DNA" "Blood" "" "0000119448" "00118985" "1" "02152" "02033" "2009-02-10 12:20:43" "02033" "2009-02-23 12:07:59" "SEQ" "DNA" "Blood" "" "0000119449" "00118986" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:08:20" "SEQ" "DNA" "" "" "0000119450" "00118987" "1" "02215" "02215" "2009-10-20 17:13:25" "02215" "2017-02-20 11:22:47" "DHPLC" "DNA" "Blood" "" "0000119451" "00118988" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:43:18" "DHPLC" "DNA" "Blood" "" "0000119452" "00118989" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:40:25" "SSCA" "DNA" "Blood" "" "0000119453" "00118990" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:08:39" "SEQ" "DNA" "Blood" "" "0000119454" "00118991" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:43:33" "DHPLC" "DNA" "Blood" "" "0000119455" "00118992" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:09:00" "SEQ" "DNA" "Blood" "" "0000119456" "00118993" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:09:31" "SEQ" "DNA" "Blood" "" "0000119457" "00118994" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:40:40" "SSCA" "DNA" "Blood" "" "0000119458" "00118995" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:41:05" "SSCA" "RNA" "" "" "0000119459" "00118996" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:28:56" "SEQ" "DNA" "Blood" "" "0000119460" "00118997" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:29:17" "SEQ" "DNA" "Blood" "" "0000119461" "00118998" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 16:34:13" "SEQ" "DNA" "Blood" "" "0000119462" "00118999" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-03-05 14:50:28" "MLPA;SEQ" "DNA" "Blood" "" "0000119463" "00119000" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:43:46" "DHPLC" "DNA" "" "" "0000119464" "00119001" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:47:52" "SEQ" "DNA" "" "" "0000119465" "00119002" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:09:52" "SEQ" "DNA" "Blood" "" "0000119466" "00119003" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:41:24" "SSCA" "DNA" "Blood" "" "0000119467" "00119004" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:43:55" "DHPLC" "DNA" "" "" "0000119468" "00119005" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:44:06" "DHPLC" "DNA" "Blood" "" "0000119469" "00119006" "1" "02210" "02033" "2010-10-06 08:34:41" "02033" "2010-11-17 09:34:14" "SEQ" "DNA" "" "" "0000119470" "00119007" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:10:36" "SEQ" "DNA" "" "" "0000119471" "00119008" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:10:52" "SEQ" "DNA" "" "" "0000119472" "00119009" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 12:20:26" "SEQ" "DNA" "Blood" "" "0000119473" "00119010" "1" "02210" "02033" "2009-03-06 10:45:14" "" "" "SEQ" "DNA" "Blood" "" "0000119474" "00119011" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:42:17" "SSCA" "DNA" "Blood" "" "0000119475" "00119012" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:42:37" "SSCA" "DNA" "Blood" "" "0000119476" "00119013" "1" "02213" "02033" "2009-02-18 13:20:29" "02033" "2009-02-23 12:11:25" "SEQ" "DNA" "" "" "0000119477" "00119014" "1" "02213" "02033" "2009-02-18 13:20:29" "02033" "2009-02-23 12:11:39" "SEQ" "DNA" "" "" "0000119478" "00119015" "1" "02213" "02033" "2009-02-18 13:20:29" "02033" "2009-02-23 12:11:57" "SEQ" "DNA" "" "" "0000119479" "00119016" "1" "02210" "02033" "2009-03-06 10:45:14" "02033" "2009-03-06 20:34:34" "SEQ" "DNA" "Blood" "" "0000119480" "00119017" "1" "02210" "02033" "2009-03-06 10:45:14" "02033" "2009-03-06 20:34:48" "SEQ" "DNA" "Blood" "" "0000119481" "00119018" "1" "02214" "02214" "2009-10-22 22:08:05" "02033" "2009-10-23 09:00:54" "PCR" "DNA" "Blood" "" "0000119482" "00119019" "1" "02152" "02033" "2009-02-10 12:20:43" "02033" "2009-02-23 12:12:12" "SEQ" "DNA" "Blood" "" "0000119483" "00119020" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:48:27" "SEQ" "DNA" "" "" "0000119484" "00119021" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-03-06 13:19:09" "SSCA" "DNA" "Blood" "" "0000119485" "00119022" "1" "02210" "02033" "2010-05-18 12:40:06" "" "" "DHPLC" "DNA" "Blood" "" "0000119486" "00119023" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:44:18" "DHPLC" "DNA" "Blood" "" "0000119487" "00119024" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:49:08" "SEQ" "DNA" "" "" "0000119488" "00119025" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:49:42" "SEQ" "DNA" "" "" "0000119489" "00119026" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:34:45" "?" "DNA" "Blood, Mouth swabs" "" "0000119490" "00119027" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-03-06 13:19:09" "SSCA" "DNA" "Blood" "" "0000119491" "00119028" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:44:27" "DHPLC" "DNA" "" "" "0000119492" "00119029" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:50:29" "SEQ" "DNA" "" "" "0000119493" "00119030" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:46:08" "DHPLC" "DNA" "Blood" "" "0000119494" "00119031" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:51:04" "SEQ" "DNA" "" "" "0000119495" "00119032" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:15:36" "SEQ" "DNA" "Blood" "" "0000119496" "00119033" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-03-06 13:19:09" "SSCA" "DNA" "Blood" "" "0000119497" "00119034" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-03-06 13:19:09" "SSCA" "DNA" "Blood" "" "0000119498" "00119035" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-03-06 13:19:09" "SSCA" "DNA" "Blood" "" "0000119499" "00119036" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:51:36" "SEQ" "DNA" "" "" "0000119500" "00119037" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:44:48" "DHPLC" "DNA" "Blood" "" "0000119501" "00119038" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:16:08" "SEQ" "DNA" "Blood" "" "0000119502" "00119039" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:16:23" "SEQ" "DNA" "Blood" "" "0000119503" "00119040" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:46:21" "DHPLC" "DNA" "Blood" "" "0000119504" "00119041" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:44:30" "SSCA" "DNA" "Blood" "" "0000119505" "00119042" "1" "02213" "02033" "2009-02-18 13:20:29" "02033" "2009-02-23 12:16:35" "SEQ" "DNA" "" "" "0000119506" "00119043" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:44:49" "SSCA" "DNA" "Blood" "" "0000119507" "00119044" "1" "02210" "02033" "2011-01-21 14:38:00" "" "" "SEQ" "DNA" "Blood" "" "0000119508" "00119045" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:46:35" "DHPLC" "DNA" "Blood" "" "0000119509" "00119046" "1" "02152" "02152" "2009-10-12 09:29:15" "02033" "2009-10-12 12:01:27" "SEQ" "DNA" "" "" "0000119510" "00119047" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:52:19" "SEQ" "DNA" "" "" "0000119511" "00119048" "1" "02210" "02210" "2009-02-20 08:24:15" "02033" "2009-02-20 12:21:05" "SEQ" "DNA" "Blood" "" "0000119512" "00119049" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:17:04" "SEQ" "DNA" "" "" "0000119513" "00119050" "1" "02212" "02033" "2009-02-10 12:21:35" "02212" "2017-02-22 11:52:52" "SEQ" "DNA" "" "" "0000119514" "00119051" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:18:04" "SEQ" "DNA" "" "" "0000119515" "00119052" "1" "02210" "02210" "2009-02-20 08:24:15" "02033" "2009-02-20 12:21:29" "SEQ" "DNA" "Blood" "" "0000119516" "00119053" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:45:55" "SSCA" "DNA" "Blood" "" "0000119517" "00119054" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 12:18:32" "SEQ" "DNA" "" "" "0000119518" "00119055" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-03-05 12:25:40" "SSCA" "DNA" "Blood" "" "0000119519" "00119056" "1" "02213" "02033" "2009-02-18 13:20:29" "02033" "2009-02-23 12:18:45" "SEQ" "DNA" "" "" "0000119520" "00119057" "1" "02210" "02033" "2009-10-13 15:53:36" "" "" "DHPLC" "DNA" "Blood" "" "0000119521" "00119058" "1" "02210" "02033" "2009-10-13 15:53:36" "" "" "DHPLC" "DNA" "Blood" "" "0000119522" "00119059" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-24 13:17:25" "SEQ" "DNA" "Blood" "" "0000119523" "00119060" "1" "02210" "02210" "2009-02-20 08:24:15" "02033" "2009-02-20 12:22:02" "SEQ" "DNA" "Blood" "" "0000119524" "00119061" "1" "02210" "02033" "2009-10-13 15:53:36" "" "" "SEQ" "DNA" "" "" "0000119525" "00119062" "1" "02210" "02210" "2009-02-20 08:24:15" "02033" "2009-02-20 12:22:14" "SEQ" "DNA" "Blood" "" "0000119526" "00119063" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-23 13:03:35" "DHPLC;SSCA" "DNA" "Blood" "" "0000119527" "00119064" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 16:51:38" "DHPLC;SSCA" "DNA" "Blood" "" "0000119528" "00119065" "1" "02210" "02033" "2009-10-13 15:53:36" "" "" "DHPLC" "DNA" "Blood" "" "0000119529" "00119066" "1" "02210" "02033" "2009-10-13 15:53:36" "" "" "DHPLC" "DNA" "Blood" "" "0000119530" "00119067" "1" "02210" "02033" "2009-10-13 15:53:36" "" "" "DHPLC" "DNA" "Blood" "" "0000119531" "00119068" "1" "02210" "02033" "2009-02-10 12:20:02" "02033" "2009-02-20 11:38:04" "SEQ" "DNA" "" "" "0000209759" "00208710" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209760" "00208711" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209761" "00208712" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209762" "00208713" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209763" "00208714" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209764" "00208715" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209765" "00208716" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209766" "00208717" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209767" "00208718" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209768" "00208719" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209769" "00208720" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209770" "00208721" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209771" "00208722" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209772" "00208723" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209773" "00208724" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209774" "00208725" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209775" "00208726" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209776" "00208727" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209777" "00208728" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209778" "00208729" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209779" "00208730" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209780" "00208731" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209781" "00208732" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209782" "00208733" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209783" "00208734" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209784" "00208735" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209785" "00208736" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209786" "00208737" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209787" "00208738" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209788" "00208739" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209789" "00208740" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209790" "00208741" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209791" "00208742" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209792" "00208743" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209793" "00208744" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209794" "00208745" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209795" "00208746" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000291562" "00290394" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291563" "00290395" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291564" "00290396" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297952" "00296842" "1" "01741" "01741" "2020-04-14 13:32:33" "" "" "SEQ" "DNA" "" "" "0000308407" "00307265" "1" "00006" "00006" "2020-08-07 09:20:25" "00006" "2020-08-07 09:24:21" "SEQ" "DNA" "" "" "0000308409" "00307267" "1" "00006" "00006" "2020-08-07 09:46:20" "00006" "2020-08-07 09:49:24" "SEQ" "DNA" "" "" "0000308410" "00307268" "1" "00006" "00006" "2020-08-07 09:51:54" "" "" "SEQ" "DNA" "" "" "0000333599" "00332376" "1" "00006" "00006" "2021-02-18 08:46:33" "" "" "SEQ" "DNA" "" "" "0000378503" "00377301" "1" "00006" "00006" "2021-07-22 08:59:28" "" "" "SEQ" "DNA" "" "" "0000381513" "00380299" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ-NG" "DNA" "blood" "autozygome-guided sequencing" "0000381985" "00380771" "1" "00000" "03840" "2021-08-23 12:15:23" "" "" "SEQ-NG-I" "DNA" "" "whole exome sequencing" "0000420138" "00418841" "1" "00006" "00006" "2022-10-07 17:02:55" "" "" "SEQ" "DNA" "" "" "0000420139" "00418842" "1" "00006" "00006" "2022-10-07 17:02:55" "" "" "SEQ" "DNA" "" "" "0000420140" "00418843" "1" "00006" "00006" "2022-10-07 17:02:55" "" "" "SEQ" "DNA" "" "" "0000454531" "00452927" "1" "04449" "04449" "2024-08-05 04:10:45" "" "" "SEQ" "DNA" "blood" "Screening of identified variant" "0000454532" "00452928" "1" "04449" "04449" "2024-08-05 04:38:38" "" "" "SEQ" "DNA" "blood" "Screening of identified variant" "0000454533" "00452929" "1" "04449" "04449" "2024-08-05 04:49:56" "" "" "SEQ" "DNA" "blood" "Screening of identified variant" "0000454544" "00452940" "1" "04449" "04449" "2024-08-06 08:17:26" "" "" "SEQ;SEQ-NG" "DNA" "blood" "Clinical Exome Sequencing and Sanger validation" "0000454549" "00452946" "1" "04449" "04449" "2024-08-07 08:25:41" "" "" "SEQ;SEQ-NG" "DNA" "blood" "Clinical Exome Sequencing and Sanger validation" "0000454550" "00452947" "1" "04449" "04449" "2024-08-07 09:41:03" "" "" "SEQ;SEQ-NG" "DNA" "blood" "Clinical Exome Sequencing and Sanger validation" "0000454551" "00452948" "1" "04449" "04449" "2024-08-07 10:01:11" "" "" "SEQ;SEQ-NG" "DNA" "blood" "Clinical Exome Sequencing and Sanger validation" "0000454555" "00452951" "1" "04449" "04449" "2024-08-08 07:23:43" "" "" "SEQ" "DNA" "blood" "Validation from a relatives variant" "0000454557" "00452953" "1" "04449" "04449" "2024-08-08 08:45:27" "" "" "SEQ" "DNA" "blood" "Screening of identified variant" "0000454558" "00452954" "1" "04449" "04449" "2024-08-08 09:32:43" "" "" "SEQ" "DNA" "blood" "Screening of identified variant" "0000454559" "00452955" "1" "04449" "04449" "2024-08-08 10:08:56" "" "" "SEQ;SEQ-NG" "DNA" "blood" "Custom panel of 4800 genes with clinical significance" "0000454560" "00452956" "1" "04449" "04449" "2024-08-08 10:20:38" "" "" "SEQ" "DNA" "blood" "Screening of identified variant" "0000454561" "00452957" "1" "04449" "04449" "2024-08-08 10:46:46" "" "" "SEQ" "DNA" "blood" "Screening of identified variant" "0000454563" "00452959" "1" "04449" "04449" "2024-08-08 11:31:45" "" "" "SEQ" "DNA" "blood" "Screening of identified variant" "0000454564" "00452960" "1" "04449" "04449" "2024-08-08 11:40:55" "" "" "SEQ" "DNA" "blood" "Screening of identified variant" "0000454566" "00452962" "1" "04449" "04449" "2024-08-08 11:57:08" "" "" "SEQ" "DNA" "blood" "Screening of identified variant" "0000454567" "00452963" "1" "04449" "04449" "2024-08-08 12:13:57" "" "" "SEQ" "DNA" "blood" "Screening of identified variant" "0000454568" "00452964" "1" "04449" "04449" "2024-08-08 12:24:42" "" "" "SEQ" "DNA" "blood" "Screening of identified variant" "0000454569" "00452965" "1" "04449" "04449" "2024-08-08 12:33:51" "" "" "SEQ" "DNA" "blood" "Screening of identified variant" "0000454570" "00452966" "1" "04449" "04449" "2024-08-08 13:16:03" "" "" "SEQ" "DNA" "blood" "Screening of identified variant" "0000454571" "00452967" "1" "04449" "04449" "2024-08-08 13:24:34" "" "" "SEQ" "DNA" "blood" "Screening of identified variant" "0000454577" "00452972" "1" "04449" "04449" "2024-08-08 16:34:23" "" "" "SEQ;SEQ-NG" "DNA" "blood" "Clinical Exome Sequencing and Sanger validation" "0000454578" "00452973" "1" "04449" "04449" "2024-08-09 07:39:58" "" "" "SEQ;SEQ-NG" "DNA" "blood" "Clinical Exome Sequencing and Sanger validation" "0000454579" "00452974" "1" "04449" "04449" "2024-08-09 07:50:32" "" "" "SEQ;SEQ-NG" "DNA" "blood" "Clinical Exome Sequencing and Sanger validation" "0000454580" "00452975" "1" "04449" "04449" "2024-08-09 08:00:13" "" "" "SEQ" "DNA" "blood" "Validation from a relatives variant" "0000454589" "00452980" "1" "04449" "04449" "2024-08-09 10:39:26" "" "" "SEQ;SEQ-NG" "DNA" "blood" "Clinical Exome Sequencing and Sanger validation" "0000454590" "00452981" "1" "04449" "04449" "2024-08-09 10:50:29" "" "" "SEQ" "DNA" "blood" "Validation from a relatives variant" "0000454591" "00452982" "1" "04449" "04449" "2024-08-09 11:02:06" "" "" "SEQ" "DNA" "blood" "Validation from a relatives variant" "0000454592" "00452983" "1" "04449" "04449" "2024-08-09 11:10:06" "" "" "SEQ" "DNA" "blood" "Validation from a relatives variant" "0000454593" "00452984" "1" "04449" "04449" "2024-08-09 11:18:56" "" "" "SEQ;SEQ-NG" "DNA" "blood" "Clinical Exome Sequencing and Sanger validation" "0000454594" "00452985" "1" "04449" "04449" "2024-08-09 11:28:36" "" "" "SEQ" "DNA" "blood" "Screening of identified variant" "0000454595" "00452986" "1" "04449" "04449" "2024-08-09 11:38:19" "" "" "SEQ" "DNA" "blood" "Screening of identified variant" "0000454596" "00452987" "1" "04449" "04449" "2024-08-09 11:49:23" "" "" "SEQ;SEQ-NG" "DNA" "blood" "Clinical Exome Sequencing and Sanger validation" "0000454597" "00452988" "1" "04449" "04449" "2024-08-09 11:59:16" "" "" "SEQ;SEQ-NG" "DNA" "blood" "Clinical Exome Sequencing and Sanger validation" "0000455025" "00453414" "1" "04740" "04740" "2024-08-21 14:04:59" "" "" "SEQ;SEQ-NG" "DNA" "blood" "Clinical Exome Sequencing and Sanger validation" "0000468367" "00466703" "1" "00006" "00006" "2025-09-23 14:50:33" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 488 "{{screeningid}}" "{{geneid}}" "0000101067" "EXT2" "0000119144" "EXT2" "0000119145" "EXT2" "0000119146" "EXT2" "0000119147" "EXT2" "0000119148" "EXT2" "0000119149" "EXT2" "0000119150" "EXT2" "0000119151" "EXT2" "0000119152" "EXT2" "0000119153" "EXT2" "0000119154" "EXT2" "0000119155" "EXT2" "0000119156" "EXT2" "0000119157" "EXT2" "0000119158" "EXT2" "0000119159" "EXT2" "0000119160" "EXT2" "0000119161" "EXT2" "0000119162" "EXT2" "0000119163" "EXT2" "0000119164" "EXT2" "0000119165" "EXT2" "0000119166" "EXT2" "0000119167" "EXT2" "0000119168" "EXT2" "0000119169" "EXT2" "0000119170" "EXT2" "0000119171" "EXT2" "0000119172" "EXT2" "0000119173" "EXT2" "0000119174" "EXT2" "0000119175" "EXT2" "0000119176" "EXT2" "0000119177" "EXT2" "0000119178" "EXT2" "0000119179" "EXT2" "0000119180" "EXT2" "0000119181" "EXT2" "0000119182" "EXT2" "0000119183" "EXT2" "0000119184" "EXT2" "0000119185" "EXT2" "0000119186" "EXT2" "0000119187" "EXT2" "0000119188" "EXT2" "0000119189" "EXT2" "0000119190" "EXT2" "0000119191" "EXT2" "0000119192" "EXT2" "0000119193" "EXT2" "0000119194" "EXT2" "0000119195" "EXT2" "0000119196" "EXT2" "0000119197" "EXT2" "0000119198" "EXT2" "0000119199" "EXT2" "0000119200" "EXT2" "0000119201" "EXT2" "0000119202" "EXT2" "0000119203" "EXT2" "0000119204" "EXT2" "0000119205" "EXT2" "0000119206" "EXT2" "0000119207" "EXT2" "0000119208" "EXT2" "0000119209" "EXT2" "0000119210" "EXT2" "0000119211" "EXT2" "0000119212" "EXT2" "0000119213" "EXT2" "0000119214" "EXT2" "0000119215" "EXT2" "0000119216" "EXT2" "0000119217" "EXT2" "0000119218" "EXT2" "0000119219" "EXT2" "0000119220" "EXT2" "0000119221" "EXT2" "0000119222" "EXT2" "0000119223" "EXT2" "0000119224" "EXT2" "0000119225" "EXT2" "0000119226" "EXT2" "0000119227" "EXT2" "0000119228" "EXT2" "0000119229" "EXT2" "0000119230" "EXT2" "0000119231" "EXT2" "0000119232" "EXT2" "0000119233" "EXT2" "0000119234" "EXT2" "0000119235" "EXT2" "0000119236" "EXT2" "0000119237" "EXT2" "0000119238" "EXT2" "0000119239" "EXT2" "0000119240" "EXT2" "0000119241" "EXT2" "0000119242" "EXT2" "0000119243" "EXT2" "0000119244" "EXT2" "0000119245" "EXT2" "0000119246" "EXT2" "0000119247" "EXT2" "0000119248" "EXT2" "0000119249" "EXT2" "0000119250" "EXT2" "0000119251" "EXT2" "0000119252" "EXT2" "0000119253" "EXT2" "0000119254" "EXT2" "0000119255" "EXT2" "0000119256" "EXT2" "0000119257" "EXT2" "0000119258" "EXT2" "0000119259" "EXT2" "0000119260" "EXT2" "0000119261" "EXT2" "0000119262" "EXT2" "0000119263" "EXT2" "0000119264" "EXT2" "0000119265" "EXT2" "0000119266" "EXT2" "0000119267" "EXT2" "0000119268" "EXT2" "0000119269" "EXT2" "0000119270" "EXT2" "0000119271" "EXT2" "0000119272" "EXT2" "0000119273" "EXT2" "0000119274" "EXT2" "0000119275" "EXT2" "0000119276" "EXT2" "0000119277" "EXT2" "0000119278" "EXT2" "0000119279" "EXT2" "0000119280" "EXT2" "0000119281" "EXT2" "0000119282" "EXT2" "0000119283" "EXT2" "0000119284" "EXT2" "0000119285" "EXT2" "0000119286" "EXT2" "0000119287" "EXT2" "0000119288" "EXT2" "0000119289" "EXT2" "0000119290" "EXT2" "0000119291" "EXT2" "0000119292" "EXT2" "0000119293" "EXT2" "0000119294" "EXT2" "0000119295" "EXT2" "0000119296" "EXT2" "0000119297" "EXT2" "0000119298" "EXT2" "0000119299" "EXT2" "0000119300" "EXT2" "0000119301" "EXT2" "0000119302" "EXT2" "0000119303" "EXT2" "0000119304" "EXT2" "0000119305" "EXT2" "0000119306" "EXT2" "0000119307" "EXT2" "0000119308" "EXT2" "0000119309" "EXT2" "0000119310" "EXT2" "0000119311" "EXT2" "0000119312" "EXT2" "0000119313" "EXT2" "0000119314" "EXT2" "0000119315" "EXT2" "0000119316" "EXT2" "0000119317" "EXT2" "0000119318" "EXT2" "0000119319" "EXT2" "0000119320" "EXT2" "0000119321" "EXT2" "0000119322" "EXT2" "0000119323" "EXT2" "0000119324" "EXT2" "0000119325" "EXT2" "0000119326" "EXT2" "0000119327" "EXT2" "0000119328" "EXT2" "0000119329" "EXT2" "0000119330" "EXT2" "0000119331" "EXT2" "0000119332" "EXT2" "0000119333" "EXT2" "0000119334" "EXT2" "0000119335" "EXT2" "0000119336" "EXT2" "0000119337" "EXT2" "0000119338" "EXT2" "0000119339" "EXT2" "0000119340" "EXT2" "0000119341" "EXT2" "0000119342" "EXT2" "0000119343" "EXT2" "0000119344" "EXT2" "0000119345" "EXT2" "0000119346" "EXT2" "0000119347" "EXT2" "0000119348" "EXT2" "0000119349" "EXT2" "0000119350" "EXT2" "0000119351" "EXT2" "0000119352" "EXT2" "0000119353" "EXT2" "0000119354" "EXT2" "0000119355" "EXT2" "0000119356" "EXT2" "0000119357" "EXT2" "0000119358" "EXT2" "0000119359" "EXT2" "0000119360" "EXT2" "0000119361" "EXT2" "0000119362" "EXT2" "0000119363" "EXT2" "0000119364" "EXT2" "0000119365" "EXT2" "0000119366" "EXT2" "0000119367" "EXT2" "0000119368" "EXT2" "0000119369" "EXT2" "0000119370" "EXT2" "0000119371" "EXT2" "0000119372" "EXT2" "0000119373" "EXT2" "0000119374" "EXT2" "0000119375" "EXT2" "0000119376" "EXT2" "0000119377" "EXT2" "0000119378" "EXT2" "0000119379" "EXT2" "0000119380" "EXT2" "0000119381" "EXT2" "0000119382" "EXT2" "0000119383" "EXT2" "0000119384" "EXT2" "0000119385" "EXT2" "0000119386" "EXT2" "0000119387" "EXT2" "0000119388" "EXT2" "0000119389" "EXT2" "0000119390" "EXT2" "0000119391" "EXT2" "0000119392" "EXT2" "0000119393" "EXT2" "0000119394" "EXT2" "0000119395" "EXT2" "0000119396" "EXT2" "0000119397" "EXT2" "0000119398" "EXT2" "0000119399" "EXT2" "0000119400" "EXT2" "0000119401" "EXT2" "0000119402" "EXT2" "0000119403" "EXT2" "0000119404" "EXT2" "0000119405" "EXT2" "0000119406" "EXT2" "0000119407" "EXT2" "0000119408" "EXT2" "0000119409" "EXT2" "0000119410" "EXT2" "0000119411" "EXT2" "0000119412" "EXT2" "0000119413" "EXT2" "0000119414" "EXT2" "0000119415" "EXT2" "0000119416" "EXT2" "0000119417" "EXT2" "0000119418" "EXT2" "0000119419" "EXT2" "0000119420" "EXT2" "0000119421" "EXT2" "0000119422" "EXT2" "0000119423" "EXT2" "0000119424" "EXT2" "0000119425" "EXT2" "0000119426" "EXT2" "0000119427" "EXT2" "0000119428" "EXT2" "0000119429" "EXT2" "0000119430" "EXT2" "0000119431" "EXT2" "0000119432" "EXT2" "0000119433" "EXT2" "0000119434" "EXT2" "0000119435" "EXT2" "0000119436" "EXT2" "0000119437" "EXT2" "0000119438" "EXT2" "0000119439" "EXT2" "0000119440" "EXT2" "0000119441" "EXT2" "0000119442" "EXT2" "0000119443" "EXT2" "0000119444" "EXT2" "0000119445" "EXT2" "0000119446" "EXT2" "0000119447" "EXT2" "0000119448" "EXT2" "0000119449" "EXT2" "0000119450" "EXT2" "0000119451" "EXT2" "0000119452" "EXT2" "0000119453" "EXT2" "0000119454" "EXT2" "0000119455" "EXT2" "0000119456" "EXT2" "0000119457" "EXT2" "0000119458" "EXT2" "0000119459" "EXT2" "0000119460" "EXT2" "0000119461" "EXT2" "0000119462" "EXT2" "0000119463" "EXT2" "0000119464" "EXT2" "0000119465" "EXT2" "0000119466" "EXT2" "0000119467" "EXT2" "0000119468" "EXT2" "0000119469" "EXT2" "0000119470" "EXT2" "0000119471" "EXT2" "0000119472" "EXT2" "0000119473" "EXT2" "0000119474" "EXT2" "0000119475" "EXT2" "0000119476" "EXT2" "0000119477" "EXT2" "0000119478" "EXT2" "0000119479" "EXT2" "0000119480" "EXT2" "0000119481" "EXT2" "0000119482" "EXT2" "0000119483" "EXT2" "0000119484" "EXT2" "0000119485" "EXT2" "0000119486" "EXT2" "0000119487" "EXT2" "0000119488" "EXT2" "0000119489" "EXT2" "0000119490" "EXT2" "0000119491" "EXT2" "0000119492" "EXT2" "0000119493" "EXT2" "0000119494" "EXT2" "0000119495" "EXT2" "0000119496" "EXT2" "0000119497" "EXT2" "0000119498" "EXT2" "0000119499" "EXT2" "0000119500" "EXT2" "0000119501" "EXT2" "0000119502" "EXT2" "0000119503" "EXT2" "0000119504" "EXT2" "0000119505" "EXT2" "0000119506" "EXT2" "0000119507" "EXT2" "0000119508" "EXT2" "0000119509" "EXT2" "0000119510" "EXT2" "0000119511" "EXT2" "0000119512" "EXT2" "0000119513" "EXT2" "0000119514" "EXT2" "0000119515" "EXT2" "0000119516" "EXT2" "0000119517" "EXT2" "0000119518" "EXT2" "0000119519" "EXT2" "0000119520" "EXT2" "0000119521" "EXT2" "0000119522" "EXT2" "0000119523" "EXT2" "0000119524" "EXT2" "0000119525" "EXT2" "0000119526" "EXT2" "0000119527" "EXT2" "0000119528" "EXT2" "0000119529" "EXT2" "0000119530" "EXT2" "0000119531" "EXT2" "0000209759" "EXT2" "0000209760" "EXT2" "0000209761" "EXT2" "0000209762" "EXT2" "0000209763" "EXT2" "0000209764" "EXT2" "0000209765" "EXT2" "0000209766" "EXT2" "0000209767" "EXT2" "0000209768" "EXT2" "0000209769" "EXT2" "0000209770" "EXT2" "0000209771" "EXT2" "0000209772" "EXT2" "0000209773" "EXT2" "0000209774" "EXT2" "0000209775" "EXT2" "0000209776" "EXT2" "0000209777" "EXT2" "0000209778" "EXT2" "0000209779" "EXT2" "0000209780" "EXT2" "0000209781" "EXT2" "0000209782" "EXT2" "0000209783" "EXT2" "0000209784" "EXT2" "0000209785" "EXT2" "0000209786" "EXT2" "0000209787" "EXT2" "0000209788" "EXT2" "0000209789" "EXT2" "0000209790" "EXT2" "0000209791" "EXT2" "0000209792" "EXT2" "0000209793" "EXT2" "0000209794" "EXT2" "0000209795" "EXT2" "0000297952" "EXT2" "0000308407" "EXT1" "0000308407" "EXT2" "0000308409" "EXT1" "0000308409" "EXT2" "0000308410" "EXT1" "0000308410" "EXT2" "0000333599" "EXT1" "0000333599" "EXT2" "0000378503" "EXT1" "0000378503" "EXT2" "0000381513" "EXT2" "0000420138" "EXT2" "0000420139" "EXT2" "0000420140" "EXT2" "0000454531" "EXT2" "0000454532" "EXT2" "0000454533" "EXT2" "0000454544" "EXT1" "0000454544" "EXT2" "0000454549" "EXT1" "0000454549" "EXT2" "0000454550" "EXT1" "0000454550" "EXT2" "0000454551" "EXT1" "0000454551" "EXT2" "0000454555" "EXT2" "0000454557" "EXT2" "0000454558" "EXT2" "0000454559" "EXT2" "0000454560" "EXT2" "0000454561" "EXT2" "0000454563" "EXT2" "0000454564" "EXT2" "0000454566" "EXT2" "0000454567" "EXT2" "0000454568" "EXT2" "0000454569" "EXT2" "0000454570" "EXT2" "0000454571" "EXT2" "0000454577" "EXT1" "0000454577" "EXT2" "0000454578" "EXT1" "0000454578" "EXT2" "0000454579" "EXT1" "0000454579" "EXT2" "0000454580" "EXT2" "0000454589" "EXT1" "0000454589" "EXT2" "0000454590" "EXT1" "0000454590" "EXT2" "0000454591" "EXT2" "0000454592" "EXT2" "0000454593" "EXT2" "0000454594" "EXT2" "0000454595" "EXT2" "0000454596" "EXT1" "0000454596" "EXT2" "0000454597" "EXT1" "0000454597" "EXT2" "0000455025" "EXT1" "0000455025" "EXT2" ## 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 = 575 "{{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}}" "0000163511" "21" "10" "11" "44148505" "44148505" "subst" "0" "01926" "EXT2_000391" "g.44148505G>A" "" "" "" "" "" "Germline" "yes" "rs138187791" "0" "" "" "g.44126955G>A" "" "benign" "" "0000195249" "0" "11" "11" "44117100" "44266981" "del" "0" "02210" "EXT2_000010" "g.44117100_44266981del" "38" "" "" "c.-833C>T" "" "Unknown" "" "" "0" "" "" "g.44095550_44245431del" "" "benign" "" "0000195250" "0" "77" "11" "44117099" "44266980" "del" "0" "02210" "EXT2_000010" "g.(?_44117099)_(44266980_?)del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.(?_44095549)_(44245430_?)del" "" "likely pathogenic" "" "0000195251" "0" "77" "11" "44117099" "44266980" "del" "0" "02210" "EXT2_000010" "g.(?_44117099)_(44266980_?)del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.(?_44095549)_(44245430_?)del" "" "likely pathogenic" "" "0000195252" "0" "77" "11" "44117099" "44266980" "del" "0" "02210" "EXT2_000010" "g.(?_44117099)_(44266980_?)del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.(?_44095549)_(44245430_?)del" "" "likely pathogenic" "" "0000195253" "0" "77" "11" "44117099" "44266980" "del" "0" "02152" "EXT2_000010" "g.(?_44117099)_(44266980_?)del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.(?_44095549)_(44245430_?)del" "" "likely pathogenic" "" "0000195254" "0" "77" "11" "44114092" "44228510" "del" "0" "02210" "EXT2_000004" "g.(?_44114092)_(44228510_44253902)del" "" "" "" "c.(-3341)_(1662+1)del" "" "Germline" "" "" "0" "" "" "g.(?_44092542)_(44206960_44232352)del" "" "likely pathogenic" "" "0000195255" "0" "77" "11" "44129232" "44193293" "del" "0" "02210" "EXT2_000006" "g.44129232_44193293del" "" "" "" "" "Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000195256" "0" "77" "11" "44129232" "44129799" "del" "0" "02210" "EXT2_000005" "g.44129232_44129799del" "" "" "" "" "Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000195257" "0" "77" "11" "44193160" "44193293" "del" "0" "02210" "EXT2_000007" "g.44193160_44193293del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44171610_44171743del" "" "likely pathogenic" "" "0000195258" "0" "77" "11" "44193160" "44193293" "del" "0" "02210" "EXT2_000007" "g.44193160_44193293del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44171610_44171743del" "" "likely pathogenic" "" "0000195259" "0" "77" "11" "44193160" "44193293" "del" "0" "02210" "EXT2_000007" "g.44193160_44193293del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44171610_44171743del" "" "likely pathogenic" "" "0000195260" "0" "11" "11" "44116949" "44116949" "subst" "0" "02210" "EXT2_000023" "g.44116949T>C" "346" "" "" "c.-331T>C" "SNP rs10458911 T/C" "Unknown" "" "" "0" "" "" "g.44095399T>C" "" "benign" "" "0000195261" "0" "11" "11" "44117122" "44117122" "subst" "0" "02210" "EXT2_000022" "g.44117122G>A" "538" "" "" "c.-464G>A" "SNP rs3923808 G/A" "Unknown" "" "" "0" "" "" "g.44095572G>A" "" "benign" "" "0000195262" "0" "11" "11" "44117219" "44117219" "subst" "0" "02210" "EXT2_000021" "g.44117219C>G" "115" "" "" "c.-61C>G" "SNP rs12800404 C/G" "Unknown" "" "" "0" "" "" "g.44095669C>G" "" "benign" "" "0000195263" "0" "11" "11" "44117409" "44117409" "subst" "0" "02210" "EXT2_000019" "g.44117409G>T" "38" "" "" "c.-184+7G>T" "SNP rs58861092 G/T" "Unknown" "" "" "0" "" "" "g.44095859G>T" "" "benign" "" "0000195264" "0" "11" "11" "44117424" "44117424" "subst" "0" "02210" "EXT2_000015" "g.44117424G>A" "462" "" "" "c.-184+22G>A" "SNP rs12365753 G/A" "Unknown" "" "" "0" "" "" "g.44095874G>A" "" "benign" "" "0000195265" "0" "11" "11" "44117444" "44117444" "subst" "0" "02210" "EXT2_000016" "g.44117444A>G" "346" "" "" "c.-184+42A>G" "SNP rs12362775 A/G" "Unknown" "" "" "0" "" "" "g.44095894A>G" "" "benign" "" "0000195266" "0" "11" "11" "44117876" "44117876" "subst" "0.020361" "02210" "EXT2_000017" "g.44117876G>A" "38" "" "" "c.-87+5G>A" "" "Unknown" "" "" "0" "" "" "g.44096326G>A" "" "benign" "" "0000195267" "0" "11" "11" "44117898" "44117898" "subst" "0.751756" "02210" "EXT2_000018" "g.44117898T>G" "385" "" "" "c.-87+27T>G" "SNP rs11037860 T/G" "Unknown" "" "" "0" "" "" "g.44096348T>G" "" "benign" "" "0000195268" "0" "11" "11" "44117456" "44117456" "subst" "0" "02210" "EXT2_000014" "g.44117456G>T" "154" "" "" "c.-30-3884G>T" "" "Unknown" "" "" "0" "" "" "g.44095906G>T" "" "benign" "" "0000195269" "0" "77" "11" "44129223" "44129703" "del" "0" "02210" "EXT2_000013" "g.44129223_44129703del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44107673_44108153del" "" "likely pathogenic" "" "0000195270" "0" "77" "11" "44117099" "44266980" "del" "0" "02210" "EXT2_000010" "g.(?_44117099)_(44266980_?)del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.(?_44095549)_(44245430_?)del" "" "likely pathogenic" "" "0000195271" "0" "77" "11" "44146338" "44146535" "del" "0" "02210" "EXT2_000376" "g.44146338_44146535del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44124788_44124985del" "" "likely pathogenic" "" "0000195272" "0" "77" "11" "44193160" "44193293" "del" "0" "02210" "EXT2_000007" "g.44193160_44193293del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44171610_44171743del" "" "likely pathogenic" "" "0000195273" "0" "55" "11" "44129235" "44129235" "subst" "1.63244E-5" "02210" "EXT2_000024" "g.44129235G>A" "" "" "" "c.1-28G>A" "Regulatory?" "Unknown" "" "" "0" "" "" "g.44107685G>A" "" "VUS" "" "0000195274" "0" "11" "11" "44129290" "44129290" "subst" "0.0345742" "02210" "EXT2_000025" "g.44129290C>A" "0,03" "" "" "(Protein: R10R, CGG>AGG)" "SNP rs4755228 C/A; Synonymous substitution. Codon CGG (freq: 0.207) changed to AGG (freq: 0.207), This variation does not alter the protein sequence." "Unknown" "" "" "0" "" "" "g.44107740C>A" "" "benign" "" "0000195275" "0" "77" "11" "44129325" "44129325" "del" "0" "02210" "EXT2_000026" "g.44129325del" "" "" "" "63delG" "" "Germline" "" "" "0" "" "" "g.44107775del" "" "likely pathogenic" "" "0000195276" "0" "77" "11" "44129329" "44129329" "subst" "1.21849E-5" "02210" "EXT2_000027" "g.44129329C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44107779C>T" "" "likely pathogenic" "" "0000195277" "0" "77" "11" "44129329" "44129329" "subst" "1.21849E-5" "02210" "EXT2_000027" "g.44129329C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44107779C>T" "" "likely pathogenic" "" "0000195278" "0" "77" "11" "44129329" "44129329" "subst" "1.21849E-5" "02210" "EXT2_000027" "g.44129329C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44107779C>T" "" "likely pathogenic" "" "0000195279" "0" "77" "11" "44129329" "44129329" "subst" "1.21849E-5" "02210" "EXT2_000027" "g.44129329C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44107779C>T" "" "likely pathogenic" "" "0000195280" "0" "77" "11" "44129329" "44129329" "subst" "1.21849E-5" "02210" "EXT2_000027" "g.44129329C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44107779C>T" "" "likely pathogenic" "" "0000195281" "0" "77" "11" "44129329" "44129329" "subst" "1.21849E-5" "02210" "EXT2_000027" "g.44129329C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44107779C>T" "" "likely pathogenic" "" "0000195282" "0" "77" "11" "44129329" "44129329" "subst" "1.21849E-5" "02210" "EXT2_000027" "g.44129329C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44107779C>T" "" "likely pathogenic" "" "0000195283" "0" "77" "11" "44129329" "44129329" "subst" "1.21849E-5" "02210" "EXT2_000027" "g.44129329C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44107779C>T" "" "likely pathogenic" "" "0000195284" "0" "77" "11" "44129329" "44129329" "subst" "1.21849E-5" "02210" "EXT2_000027" "g.44129329C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44107779C>T" "" "likely pathogenic" "" "0000195285" "0" "77" "11" "44129329" "44129329" "subst" "1.21849E-5" "02212" "EXT2_000027" "g.44129329C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44107779C>T" "" "likely pathogenic" "" "0000195286" "0" "77" "11" "44129329" "44129329" "subst" "1.21849E-5" "02212" "EXT2_000027" "g.44129329C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44107779C>T" "" "likely pathogenic" "" "0000195287" "0" "77" "11" "44129329" "44129329" "subst" "1.21849E-5" "02212" "EXT2_000027" "g.44129329C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44107779C>T" "" "likely pathogenic" "" "0000195288" "0" "77" "11" "44129329" "44129329" "subst" "1.21849E-5" "02212" "EXT2_000027" "g.44129329C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44107779C>T" "" "likely pathogenic" "" "0000195289" "0" "77" "11" "44129329" "44129329" "subst" "1.21849E-5" "02215" "EXT2_000027" "g.44129329C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44107779C>T" "" "likely pathogenic" "" "0000195290" "0" "77" "11" "44129329" "44129329" "subst" "1.21849E-5" "02215" "EXT2_000027" "g.44129329C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44107779C>T" "" "likely pathogenic" "" "0000195291" "0" "77" "11" "44129329" "44129329" "subst" "1.21849E-5" "02215" "EXT2_000027" "g.44129329C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44107779C>T" "" "likely pathogenic" "" "0000195292" "0" "77" "11" "44129329" "44129329" "subst" "1.21849E-5" "02215" "EXT2_000027" "g.44129329C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44107779C>T" "" "likely pathogenic" "" "0000195293" "0" "77" "11" "44129329" "44129329" "subst" "1.21849E-5" "02215" "EXT2_000027" "g.44129329C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44107779C>T" "" "likely pathogenic" "" "0000195294" "0" "77" "11" "44129329" "44129329" "subst" "1.21849E-5" "02215" "EXT2_000027" "g.44129329C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44107779C>T" "" "likely pathogenic" "" "0000195295" "0" "77" "11" "44129329" "44129329" "subst" "1.21849E-5" "02215" "EXT2_000027" "g.44129329C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44107779C>T" "" "likely pathogenic" "" "0000195296" "0" "77" "11" "44129329" "44129329" "subst" "1.21849E-5" "02215" "EXT2_000027" "g.44129329C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44107779C>T" "" "likely pathogenic" "" "0000195297" "0" "77" "11" "44129329" "44129329" "subst" "1.21849E-5" "02215" "EXT2_000027" "g.44129329C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44107779C>T" "" "likely pathogenic" "" "0000195298" "0" "77" "11" "44129340" "44129340" "dup" "0" "02210" "EXT2_000036" "g.44129340dup" "" "" "" "77- or 78insT" "" "Germline" "" "" "0" "" "" "g.44107790dup" "" "likely pathogenic" "" "0000195299" "0" "77" "11" "44129343" "44129343" "del" "0" "02212" "EXT2_000236" "g.44129343del" "" "" "" "c.81delC" "" "Germline" "" "" "0" "" "" "g.44107793del" "" "likely pathogenic" "" "0000195300" "0" "77" "11" "44129374" "44129375" "del" "0" "02210" "EXT2_000037" "g.44129374_44129375del" "" "" "" "112delAT" "" "Germline" "" "" "0" "" "" "g.44107824_44107825del" "" "likely pathogenic" "" "0000195301" "0" "77" "11" "44129386" "44129386" "del" "0" "02212" "EXT2_000237" "g.44129386del" "" "" "" "c.124delA" "" "Germline" "" "" "0" "" "" "g.44107836del" "" "likely pathogenic" "" "0000195302" "0" "77" "11" "44129413" "44129413" "subst" "0" "02210" "EXT2_000038" "g.44129413G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44107863G>T" "" "likely pathogenic" "" "0000195303" "0" "77" "11" "44129413" "44129413" "subst" "0" "02210" "EXT2_000038" "g.44129413G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44107863G>T" "" "likely pathogenic" "" "0000195304" "0" "77" "11" "44129413" "44129413" "subst" "0" "02212" "EXT2_000038" "g.44129413G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44107863G>T" "" "likely pathogenic" "" "0000195305" "0" "77" "11" "44129413" "44129413" "subst" "0" "02215" "EXT2_000038" "g.44129413G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44107863G>T" "" "likely pathogenic" "" "0000195306" "0" "77" "11" "44129440" "44129440" "subst" "0" "02210" "EXT2_000040" "g.44129440A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44107890A>T" "" "likely pathogenic" "" "0000195307" "0" "77" "11" "44129459" "44129464" "delins" "0" "02210" "EXT2_000041" "g.44129459_44129464delinsC" "" "" "" "197-202delTGCCGGinsC" "" "Germline" "" "" "0" "" "" "g.44107909_44107914delinsC" "" "likely pathogenic" "" "0000195308" "0" "77" "11" "44129462" "44129462" "dup" "0" "02210" "EXT2_000042" "g.44129462dup" "" "" "" "201_202insC" "" "Unknown" "" "" "0" "" "" "g.44107912dup" "" "likely pathogenic" "" "0000195309" "0" "77" "11" "44129463" "44129464" "ins" "0" "02210" "EXT2_000043" "g.44129463_44129464insC" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44107913_44107914insC" "" "likely pathogenic" "" "0000195310" "0" "77" "11" "44129495" "44129495" "del" "0" "02210" "EXT2_000044" "g.44129495del" "" "" "" "233delC" "" "Germline" "" "" "0" "" "" "g.44107945del" "" "likely pathogenic" "" "0000195311" "0" "77" "11" "44129506" "44129506" "del" "0" "02210" "EXT2_000318" "g.44129506del" "" "" "" "244delG" "" "Germline" "" "" "0" "" "" "g.44107956del" "" "likely pathogenic" "" "0000195312" "0" "77" "11" "44129506" "44129506" "dup" "0" "02210" "EXT2_000045" "g.44129506dup" "" "" "" "239-244insG" "" "Unknown" "" "" "0" "" "" "g.44107956dup" "" "likely pathogenic" "" "0000195313" "0" "77" "11" "44129506" "44129506" "dup" "0" "02210" "EXT2_000045" "g.44129506dup" "" "" "" "239-244insG" "" "Germline" "" "" "0" "" "" "g.44107956dup" "" "likely pathogenic" "" "0000195314" "0" "77" "11" "44129506" "44129507" "ins" "0" "02212" "EXT2_000239" "g.44129506_44129507insC" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44107956_44107957insC" "" "likely pathogenic" "" "0000195315" "0" "77" "11" "44129507" "44129507" "del" "0" "02210" "EXT2_000046" "g.44129507del" "" "" "" "245delA" "" "Germline" "" "" "0" "" "" "g.44107957del" "" "likely pathogenic" "" "0000195316" "0" "79" "11" "44129515" "44129515" "subst" "0" "02210" "EXT2_000047" "g.44129515T>C" "" "" "" "" "This variant is reported as pathogenic by Uniprot." "Germline" "" "" "0" "" "" "g.44107965T>C" "" "likely pathogenic" "" "0000195317" "0" "77" "11" "44129531" "44129533" "delins" "0" "02210" "EXT2_000048" "g.44129531_44129533delinsAAA" "" "" "" "269_271GTT>AAA" "" "Germline" "" "" "0" "" "" "g.44107981_44107983delinsAAA" "" "likely pathogenic" "" "0000195318" "0" "77" "11" "44129564" "44129619" "del" "0" "02210" "EXT2_000049" "g.44129564_44129619del" "" "" "" "302del56" "" "Unknown" "" "" "0" "" "" "g.44108014_44108069del" "" "likely pathogenic" "" "0000195319" "0" "77" "11" "44129575" "44129575" "subst" "0" "02210" "EXT2_000050" "g.44129575A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44108025A>T" "" "likely pathogenic" "" "0000195320" "0" "77" "11" "44129576" "44129576" "del" "0" "02212" "EXT2_000240" "g.44129576del" "" "" "" "c.314delA" "" "Germline" "" "" "0" "" "" "g.44108026del" "" "likely pathogenic" "" "0000195321" "0" "77" "11" "44129578" "44129578" "dup" "0" "02210" "EXT2_000051" "g.44129578dup" "" "" "" "315-316insG" "" "Germline" "" "" "0" "" "" "g.44108028dup" "" "likely pathogenic" "" "0000195322" "0" "77" "11" "44129579" "44129579" "dup" "0" "02215" "EXT2_000364" "g.44129579dup" "" "" "" "c.317_318insT" "" "Germline" "" "" "0" "" "" "g.44108029dup" "" "likely pathogenic" "" "0000195323" "0" "77" "11" "44129580" "44129581" "dup" "0" "02210" "EXT2_000052" "g.44129580_44129581dup" "" "" "" "319insGT" "" "Unknown" "" "" "0" "" "" "g.44108030_44108031dup" "" "likely pathogenic" "" "0000195324" "0" "77" "11" "44129604" "44129604" "subst" "0" "02210" "EXT2_000053" "g.44129604C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44108054C>A" "" "likely pathogenic" "" "0000195325" "0" "77" "11" "44129604" "44129604" "subst" "0" "02210" "EXT2_000054" "g.44129604C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44108054C>G" "" "likely pathogenic" "" "0000195326" "0" "77" "11" "44129624" "44129625" "del" "0" "02212" "EXT2_000241" "g.44129624_44129625del" "" "" "" "c.362_363delCT" "" "Germline" "" "" "0" "" "" "g.44108074_44108075del" "" "likely pathogenic" "" "0000195327" "0" "77" "11" "44129634" "44129634" "del" "0" "02210" "EXT2_000349" "g.44129634del" "" "" "" "c.372delC" "" "Germline" "" "" "0" "" "" "g.44108084del" "" "likely pathogenic" "" "0000195328" "0" "77" "11" "44129638" "44129707" "del" "0" "02210" "EXT2_000055" "g.44129638_44129707del" "" "" "" "374-443del70" "" "Unknown" "" "" "0" "" "" "g.44108088_44108157del" "" "likely pathogenic" "" "0000195329" "0" "77" "11" "44129644" "44129644" "subst" "0.000341278" "02210" "EXT2_000056" "g.44129644C>T" "14" "" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to Zebrafish, Moderate physicochemical difference between Arg & Trp (Grantham dist.: 101 [0-215]), This variation is in protein domain: Exostosin-like. Lonie: Polymorphism?" "Unknown" "" "" "0" "" "" "g.44108094C>T" "" "likely pathogenic" "" "0000195330" "0" "77" "11" "44129652" "44129652" "subst" "0" "02215" "EXT2_000338" "g.44129652T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44108102T>A" "" "likely pathogenic" "" "0000195331" "0" "77" "11" "44129660" "44129660" "subst" "0" "02210" "EXT2_000345" "g.44129660T>G" "" "" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to Zebrafish, Moderate physicochemical difference between Leu & Arg (Grantham dist.: 102 [0-215]), This variation is in protein domain: Exostosin-like" "Unknown" "" "" "0" "" "" "g.44108110T>G" "" "likely pathogenic" "" "0000195332" "0" "77" "11" "44129689" "44129689" "dup" "0" "02152" "EXT2_000219" "g.44129689dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44108139dup" "" "likely pathogenic" "" "0000195333" "0" "95" "11" "44129691" "44129691" "subst" "0" "02172" "EXT2_000387" "g.44129691C>A" "" "" "" "" "Refseq NM_207122.1" "Unknown" "" "" "0" "" "" "g.44108141C>A" "" "pathogenic" "" "0000195334" "0" "77" "11" "44129707" "44129716" "del" "0" "02152" "EXT2_000220" "g.44129707_44129716del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44108157_44108166del" "" "likely pathogenic" "" "0000195335" "0" "77" "11" "44129710" "44129710" "subst" "0" "02210" "EXT2_000057" "g.44129710G>A" "" "" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to Fruitfly, Small physicochemical difference between Ala & Thr (Grantham dist.: 58 [0-215]), This variation is in protein domain: Exostosin-like." "Unknown" "" "" "0" "" "" "g.44108160G>A" "" "likely pathogenic" "" "0000195336" "0" "77" "11" "44129714" "44129724" "dup" "0" "02210" "EXT2_000058" "g.44129714_44129724dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44108164_44108174dup" "" "likely pathogenic" "" "0000195337" "0" "77" "11" "44129716" "44129719" "del" "0" "02210" "EXT2_000059" "g.44129716_44129719del" "" "" "" "784-787del4" "" "Germline" "" "" "0" "" "" "g.44108166_44108169del" "" "likely pathogenic" "" "0000195338" "0" "77" "11" "44129716" "44129719" "del" "0" "02210" "EXT2_000059" "g.44129716_44129719del" "" "" "" "450del4" "" "Unknown" "" "" "0" "" "" "g.44108166_44108169del" "" "likely pathogenic" "" "0000195339" "0" "77" "11" "44129716" "44129719" "del" "0" "02210" "EXT2_000059" "g.44129716_44129719del" "" "" "" "450del4" "" "Unknown" "" "" "0" "" "" "g.44108166_44108169del" "" "likely pathogenic" "" "0000195340" "0" "77" "11" "44129716" "44129719" "del" "0" "02212" "EXT2_000059" "g.44129716_44129719del" "" "" "" "c.454_457delCTGT" "" "Germline" "" "" "0" "" "" "g.44108166_44108169del" "" "likely pathogenic" "" "0000195341" "0" "77" "11" "44129716" "44129719" "del" "0" "02212" "EXT2_000059" "g.44129716_44129719del" "" "" "" "c.454_457delCTGT" "" "Germline" "" "" "0" "" "" "g.44108166_44108169del" "" "likely pathogenic" "" "0000195342" "0" "77" "11" "44129716" "44129719" "del" "0" "02212" "EXT2_000059" "g.44129716_44129719del" "" "" "" "c.454_457delCTGT" "" "Unknown" "" "" "0" "" "" "g.44108166_44108169del" "" "likely pathogenic" "" "0000195343" "0" "57" "11" "44129716" "44129719" "del" "0" "02218" "EXT2_000059" "g.44129716_44129719del" "" "" "" "784-787del4" "" "Germline" "" "" "0" "" "" "g.44108166_44108169del" "" "likely pathogenic" "" "0000195344" "0" "79" "11" "44129717" "44129717" "subst" "0" "02210" "EXT2_000062" "g.44129717T>G" "" "" "" "T455G" "This variant is reported as pathogenic by Uniprot." "Germline" "" "" "0" "" "" "g.44108167T>G" "" "likely pathogenic" "" "0000195345" "0" "77" "11" "44129721" "44129724" "del" "0" "02210" "EXT2_000064" "g.44129721_44129724del" "" "" "" "c.455-458delTGTT" "" "Unknown" "" "" "0" "" "" "g.44108171_44108174del" "" "likely pathogenic" "" "0000195346" "0" "77" "11" "44129721" "44129721" "del" "0" "02210" "EXT2_000063" "g.44129721del" "" "" "" "457-459delT" "" "Germline" "" "" "0" "" "" "g.44108171del" "" "likely pathogenic" "" "0000195347" "0" "77" "11" "44129721" "44129724" "del" "0" "02210" "EXT2_000064" "g.44129721_44129724del" "" "" "" "459_462delTGTT" "" "Germline" "" "" "0" "" "" "g.44108171_44108174del" "" "likely pathogenic" "" "0000195348" "0" "77" "11" "44129721" "44129724" "del" "0" "02210" "EXT2_000064" "g.44129721_44129724del" "" "" "" "455del4" "" "Germline" "" "" "0" "" "" "g.44108171_44108174del" "" "likely pathogenic" "" "0000195349" "0" "77" "11" "44129721" "44129724" "del" "0" "02210" "EXT2_000064" "g.44129721_44129724del" "" "" "" "459_462delTGTT" "" "Unknown" "" "" "0" "" "" "g.44108171_44108174del" "" "likely pathogenic" "" "0000195350" "0" "77" "11" "44129730" "44129730" "del" "0" "02210" "EXT2_000319" "g.44129730del" "" "" "" "c.468delC" "" "Unknown" "" "" "0" "" "" "g.44108180del" "" "likely pathogenic" "" "0000195351" "0" "77" "11" "44129746" "44129746" "del" "0" "02210" "EXT2_000065" "g.44129746del" "" "" "" "484delC" "" "Germline" "" "" "0" "" "" "g.44108196del" "" "likely pathogenic" "" "0000195352" "0" "77" "11" "44129756" "44129757" "del" "0" "02210" "EXT2_000066" "g.44129756_44129757del" "" "" "" "494delTG" "" "Germline" "" "" "0" "" "" "g.44108206_44108207del" "" "likely pathogenic" "" "0000195353" "0" "77" "11" "44129757" "44129757" "del" "0" "02210" "EXT2_000067" "g.44129757del" "" "" "" "495delG" "" "Germline" "" "" "0" "" "" "g.44108207del" "" "likely pathogenic" "" "0000195354" "0" "77" "11" "44129767" "44129767" "subst" "0" "02210" "EXT2_000068" "g.44129767G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44108217G>T" "" "likely pathogenic" "" "0000195355" "0" "77" "11" "44129767" "44129767" "subst" "0" "02210" "EXT2_000068" "g.44129767G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44108217G>T" "" "likely pathogenic" "" "0000195356" "0" "77" "11" "44129767" "44129767" "subst" "0" "02213" "EXT2_000068" "g.44129767G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44108217G>T" "" "likely pathogenic" "" "0000195357" "0" "77" "11" "44129767" "44129767" "subst" "0" "02210" "EXT2_000068" "g.44129767G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44108217G>T" "" "likely pathogenic" "" "0000195358" "0" "77" "11" "44129776" "44129776" "subst" "0" "02210" "EXT2_000070" "g.44129776C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44108226C>T" "" "likely pathogenic" "" "0000195359" "0" "77" "11" "44129776" "44129776" "subst" "0" "02210" "EXT2_000070" "g.44129776C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44108226C>T" "" "likely pathogenic" "" "0000195360" "0" "77" "11" "44129776" "44129776" "subst" "0" "02210" "EXT2_000070" "g.44129776C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44108226C>T" "" "likely pathogenic" "" "0000195361" "0" "77" "11" "44129776" "44129776" "subst" "0" "02210" "EXT2_000070" "g.44129776C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44108226C>T" "" "likely pathogenic" "" "0000195362" "0" "77" "11" "44129776" "44129776" "subst" "0" "02210" "EXT2_000070" "g.44129776C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44108226C>T" "" "likely pathogenic" "" "0000195363" "0" "77" "11" "44129776" "44129776" "subst" "0" "02210" "EXT2_000070" "g.44129776C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44108226C>T" "" "likely pathogenic" "" "0000195364" "0" "77" "11" "44129776" "44129776" "subst" "0" "02212" "EXT2_000070" "g.44129776C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44108226C>T" "" "likely pathogenic" "" "0000195365" "0" "77" "11" "44129776" "44129776" "subst" "0" "02212" "EXT2_000070" "g.44129776C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44108226C>T" "" "likely pathogenic" "" "0000195366" "0" "77" "11" "44129776" "44129776" "subst" "0" "02213" "EXT2_000070" "g.44129776C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44108226C>T" "" "likely pathogenic" "" "0000195367" "0" "77" "11" "44129776" "44129776" "subst" "0" "02213" "EXT2_000070" "g.44129776C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44108226C>T" "" "likely pathogenic" "" "0000195368" "0" "77" "11" "44129776" "44129776" "subst" "0" "02210" "EXT2_000070" "g.44129776C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44108226C>T" "" "likely pathogenic" "" "0000195369" "0" "77" "11" "44129776" "44129776" "subst" "0" "02210" "EXT2_000070" "g.44129776C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44108226C>T" "" "likely pathogenic" "" "0000195370" "0" "11" "11" "44129781" "44129781" "subst" "0.0063179" "02210" "EXT2_000076" "g.44129781G>C" "14" "" "" "" "Lonie: Polymorphism? Synonymous substitution. Codon GCG (freq: 0.107) changed to GCC (freq: 0.403), This variation does not alter the protein sequence." "Unknown" "" "" "0" "" "" "g.44108231G>C" "" "benign" "" "0000195371" "0" "55" "11" "44129781" "44129781" "subst" "0.0063179" "02210" "EXT2_000076" "g.44129781G>C" "" "" "" "" "Synonymous substitution. Codon GCG (freq: 0.107) changed to GCC (freq: 0.403), This variation does not alter the protein sequence." "Unknown" "" "" "0" "" "" "g.44108231G>C" "" "VUS" "" "0000195372" "0" "55" "11" "44129781" "44129781" "subst" "0.0063179" "02210" "EXT2_000076" "g.44129781G>C" "" "" "" "" "Synonymous substitution. Codon GCG (freq: 0.107) changed to GCC (freq: 0.403), This variation does not alter the protein sequence." "Unknown" "" "" "0" "" "" "g.44108231G>C" "" "VUS" "" "0000195373" "0" "55" "11" "44129781" "44129781" "subst" "0.0063179" "02210" "EXT2_000076" "g.44129781G>C" "" "" "" "" "Synonymous substitution. Codon GCG (freq: 0.107) changed to GCC (freq: 0.403), This variation does not alter the protein sequence." "Unknown" "" "" "0" "" "" "g.44108231G>C" "" "VUS" "" "0000195374" "0" "77" "11" "44129782" "44129782" "subst" "0.000319662" "02210" "EXT2_000080" "g.44129782A>C" "" "" "" "" "Pathogenicity clues: Moderately conserved nucleotide (score: 0.5 [0-1]), Weakly conserved amino acid, Small physicochemical difference between Met & Leu (Grantham dist.: 15 [0-215]), This variation is in protein domain: Exostosin-like." "Unknown" "" "" "0" "" "" "g.44108232A>C" "" "likely pathogenic" "" "0000195375" "0" "77" "11" "44129788" "44129788" "subst" "0" "02215" "EXT2_000342" "g.44129788C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44108238C>T" "" "likely pathogenic" "" "0000195376" "0" "77" "11" "44129798" "44129798" "subst" "0" "02210" "EXT2_000353" "g.44129798G>A" "" "" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to Zebrafish, Small physicochemical difference between Arg & Lys (Grantham dist.: 26 [0-215]), This variation is in protein domain: Exostosin-like" "Germline" "" "" "0" "" "" "g.44108248G>A" "" "likely pathogenic" "" "0000195377" "0" "77" "11" "44129798" "44129798" "subst" "0" "02213" "EXT2_000285" "g.44129798G>T" "" "" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to Zebrafish, Moderate physicochemical difference between Arg & Met (Grantham dist.: 91 [0-215]), This variation is in protein domain: Exostosin-like." "Unknown" "" "" "0" "" "" "g.44108248G>T" "" "likely pathogenic" "" "0000195378" "0" "77" "11" "44129799" "44129799" "subst" "0" "02210" "EXT2_000081" "g.44129799G>A" "" "" "" "" "This substitution is located in the donor splice site of intron 2. The consequence of this change is not predictable, but a skip of exon 2 is very likely." "Unknown" "" "" "0" "" "" "g.44108249G>A" "" "likely pathogenic" "" "0000195379" "0" "77" "11" "44129799" "44129799" "subst" "0" "02210" "EXT2_000081" "g.44129799G>A" "" "" "" "" "This substitution is located in the donor splice site of intron 2. The consequence of this change is not predictable, but a skip of exon 2 is very likely." "Unknown" "" "" "0" "" "" "g.44108249G>A" "" "likely pathogenic" "" "0000195380" "0" "77" "11" "44129799" "44129799" "subst" "0" "02210" "EXT2_000081" "g.44129799G>A" "" "" "" "" "This substitution is located in the donor splice site of intron 2. The consequence of this change is not predictable, but a skip of exon 2 is very likely." "Germline" "" "" "0" "" "" "g.44108249G>A" "" "likely pathogenic" "" "0000195381" "0" "77" "11" "44129799" "44129799" "subst" "0" "02152" "EXT2_000081" "g.44129799G>A" "" "" "" "" "This substitution is located in the donor splice site of intron 2. The consequence of this change is not predictable, but a skip of exon 2 is very likely." "Unknown" "" "" "0" "" "" "g.44108249G>A" "" "likely pathogenic" "" "0000195382" "0" "77" "11" "44129799" "44129799" "subst" "0" "02210" "EXT2_000081" "g.44129799G>A" "" "" "" "" "This substitution is located in the donor splice site of intron 2. The consequence of this change is not predictable, but a skip of exon 2 is very likely." "Unknown" "" "" "0" "" "" "g.44108249G>A" "" "likely pathogenic" "" "0000195383" "0" "77" "11" "44129799" "44129799" "subst" "0" "02210" "EXT2_000084" "g.44129799G>T" "" "" "" "" "This substitution is located in the donor splice site of intron 2. The consequence of this change is not predictable, but a skip of exon 2 is very likely." "Unknown" "" "" "0" "" "" "g.44108249G>T" "" "likely pathogenic" "" "0000195384" "0" "77" "11" "44129799" "44129799" "subst" "0" "02210" "EXT2_000084" "g.44129799G>T" "" "" "" "" "This substitution is located in the donor splice site of intron 2. The consequence of this change is not predictable, but a skip of exon 2 is very likely." "Germline" "" "" "0" "" "" "g.44108249G>T" "" "likely pathogenic" "" "0000195385" "0" "77" "11" "44129799" "44129799" "subst" "0" "02210" "EXT2_000084" "g.44129799G>T" "" "" "" "" "This substitution is located in the donor splice site of intron 2. The consequence of this change is not predictable, but a skip of exon 2 is very likely." "Unknown" "" "" "0" "" "" "g.44108249G>T" "" "likely pathogenic" "" "0000195386" "0" "77" "11" "44129799" "44129799" "subst" "0" "02210" "EXT2_000084" "g.44129799G>T" "" "" "" "IVS2+1G>A" "This substitution is located in the donor splice site of intron 2. The consequence of this change is not predictable, but a skip of exon 2 is very likely." "Unknown" "" "" "0" "" "" "g.44108249G>T" "" "likely pathogenic" "" "0000195387" "0" "55" "11" "44130660" "44130660" "subst" "0" "02210" "EXT2_000090" "g.44130660C>T" "0,03" "" "" "" "Substitution in intron 2. The consequence of this change is not predictable." "Unknown" "" "" "0" "" "" "g.44109110C>T" "" "VUS" "" "0000195388" "0" "77" "11" "44130727" "44130767" "del" "0" "02210" "EXT2_000321" "g.44130727_44130767del" "" "" "" "c.537-18_559del41" "This deletion alters the acceptor splice site of exon 5. The consequence of this change is not predictable, but a skip of exon 5 is very likely." "Unknown" "" "" "0" "" "" "g.44109177_44109217del" "" "likely pathogenic" "" "0000195389" "0" "77" "11" "44130743" "44130743" "subst" "0" "02210" "EXT2_000088" "g.44130743G>A" "" "" "" "" "This substitution is located in the acceptor splice site of intron 2. The consequence of this change is not predictable, but a skip of exon 3 is very likely." "Unknown" "" "" "0" "" "" "g.44109193G>A" "" "likely pathogenic" "" "0000195390" "0" "77" "11" "44130743" "44130743" "subst" "0" "02210" "EXT2_000088" "g.44130743G>A" "" "" "" "" "This substitution is located in the acceptor splice site of intron 2. The consequence of this change is not predictable, but a skip of exon 3 is very likely." "Germline" "" "" "0" "" "" "g.44109193G>A" "" "likely pathogenic" "" "0000195391" "0" "79" "11" "44130744" "44130744" "subst" "0" "02210" "EXT2_000091" "g.44130744G>C" "" "" "" "" "This variant is reported as pathogenic by Uniprot." "Germline" "" "" "0" "" "" "g.44109194G>C" "" "likely pathogenic" "" "0000195392" "0" "77" "11" "44130746" "44130746" "subst" "0" "02210" "EXT2_000092" "g.44130746G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44109196G>A" "" "likely pathogenic" "" "0000195393" "0" "77" "11" "44130746" "44130746" "subst" "0" "02210" "EXT2_000366" "g.44130746G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.44109196G>A" "" "likely pathogenic" "" "0000195394" "0" "77" "11" "44130751" "44130751" "subst" "0" "02210" "EXT2_000093" "g.44130751C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44109201C>T" "" "likely pathogenic" "" "0000195395" "0" "77" "11" "44130751" "44130751" "subst" "0" "02210" "EXT2_000093" "g.44130751C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44109201C>T" "" "likely pathogenic" "" "0000195396" "0" "77" "11" "44130751" "44130751" "subst" "0" "02210" "EXT2_000093" "g.44130751C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44109201C>T" "" "likely pathogenic" "" "0000195397" "0" "77" "11" "44130751" "44130751" "subst" "0" "02212" "EXT2_000093" "g.44130751C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44109201C>T" "" "likely pathogenic" "" "0000195398" "0" "77" "11" "44130751" "44130751" "subst" "0" "02212" "EXT2_000093" "g.44130751C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44109201C>T" "" "likely pathogenic" "" "0000195399" "0" "77" "11" "44130751" "44130751" "subst" "0" "02212" "EXT2_000093" "g.44130751C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44109201C>T" "" "likely pathogenic" "" "0000195400" "0" "77" "11" "44130751" "44130751" "subst" "0" "02212" "EXT2_000093" "g.44130751C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44109201C>T" "" "likely pathogenic" "" "0000195401" "0" "77" "11" "44130751" "44130751" "subst" "0" "02212" "EXT2_000093" "g.44130751C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44109201C>T" "" "likely pathogenic" "" "0000195402" "0" "77" "11" "44130751" "44130751" "subst" "0" "02212" "EXT2_000093" "g.44130751C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44109201C>T" "" "likely pathogenic" "" "0000195403" "0" "77" "11" "44130751" "44130751" "subst" "0" "02213" "EXT2_000093" "g.44130751C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44109201C>T" "" "likely pathogenic" "" "0000195404" "0" "77" "11" "44130751" "44130751" "subst" "0" "02210" "EXT2_000093" "g.44130751C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44109201C>T" "" "likely pathogenic" "" "0000195405" "0" "77" "11" "44130751" "44130751" "subst" "0" "02215" "EXT2_000093" "g.44130751C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44109201C>T" "" "likely pathogenic" "" "0000195406" "0" "77" "11" "44130768" "44130768" "del" "0" "02210" "EXT2_000096" "g.44130768del" "" "{PMID:Xiao 2001:11461073}" "" "561delG" "" "Germline" "" "" "0" "" "" "g.44109218del" "" "likely pathogenic" "" "0000195407" "0" "77" "11" "44130768" "44130768" "del" "0" "02210" "EXT2_000096" "g.44130768del" "" "" "" "c.561delG" "" "Unknown" "" "" "0" "" "" "g.44109218del" "" "likely pathogenic" "" "0000195408" "0" "77" "11" "44130771" "44130771" "del" "0" "02152" "EXT2_000222" "g.44130771del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44109221del" "" "likely pathogenic" "" "0000195409" "0" "77" "11" "44130771" "44130773" "del" "0" "02212" "EXT2_000253" "g.44130771_44130773del" "" "" "" "c.564_566delGTT" "" "Unknown" "" "" "0" "" "" "g.44109221_44109223del" "" "likely pathogenic" "" "0000195410" "0" "77" "11" "44130787" "44130787" "subst" "0" "02210" "EXT2_000097" "g.44130787G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44109237G>T" "" "likely pathogenic" "" "0000195411" "0" "77" "11" "44130787" "44130787" "subst" "0" "02210" "EXT2_000097" "g.44130787G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44109237G>T" "" "likely pathogenic" "" "0000195412" "0" "77" "11" "44130805" "44130806" "ins" "0" "02214" "EXT2_000314" "g.44130805_44130806insG" "" "" "" "598insG" "" "Unknown" "" "" "0" "" "" "g.44109255_44109256insG" "" "likely pathogenic" "" "0000195413" "0" "77" "11" "44130805" "44130806" "ins" "0" "02214" "EXT2_000314" "g.44130805_44130806insG" "" "" "" "598insG" "" "Germline" "" "" "0" "" "" "g.44109255_44109256insG" "" "likely pathogenic" "" "0000195414" "0" "79" "11" "44130812" "44130812" "subst" "8.12744E-5" "02210" "EXT2_000099" "g.44130812C>T" "" "" "" "" "This variant is reported as pathogenic by Uniprot." "Unknown" "" "" "0" "" "" "g.44109262C>T" "" "likely pathogenic" "" "0000195415" "0" "77" "11" "44130814" "44130814" "del" "0" "02210" "EXT2_000100" "g.44130814del" "" "" "" "607delC" "" "Unknown" "" "" "0" "" "" "g.44109264del" "" "likely pathogenic" "" "0000195416" "0" "77" "11" "44130831" "44130831" "del" "0" "02210" "EXT2_000101" "g.44130831del" "" "" "" "624delC" "" "Germline" "" "" "0" "" "" "g.44109281del" "" "likely pathogenic" "" "0000195417" "0" "77" "11" "44130834" "44130834" "del" "0" "02210" "EXT2_000102" "g.44130834del" "" "" "" "626+1delG" "This deletion alters the donor splice site of exon 3. The consequence of this change is not predictable, but a skip of exon 3 is very likely." "Germline" "" "" "0" "" "" "g.44109284del" "" "likely pathogenic" "" "0000195418" "0" "77" "11" "44130834" "44130834" "del" "0" "02152" "EXT2_000102" "g.44130834del" "" "" "" "" "This deletion alters the donor splice site of exon 3. The consequence of this change is not predictable, but a skip of exon 3 is very likely." "Unknown" "" "" "0" "" "" "g.44109284del" "" "likely pathogenic" "" "0000195419" "0" "77" "11" "44130834" "44130834" "subst" "0" "02210" "EXT2_000103" "g.44130834G>A" "" "" "" "" "This substitution is located in the donor splice site of intron 3. The consequence of this change is not predictable, but a skip of exon 3 is very likely." "Unknown" "" "" "0" "" "" "g.44109284G>A" "" "likely pathogenic" "" "0000195420" "0" "77" "11" "44130834" "44130834" "subst" "0" "02210" "EXT2_000103" "g.44130834G>A" "" "" "" "IVS3+1A>G" "This substitution is located in the donor splice site of intron 3. The consequence of this change is not predictable, but a skip of exon 3 is very likely." "Germline" "" "" "0" "" "" "g.44109284G>A" "" "likely pathogenic" "" "0000195421" "0" "55" "11" "44130834" "44130834" "subst" "0" "02215" "EXT2_000103" "g.44130834G>A" "" "" "" "" "This substitution is located in the donor splice site of intron 3. The consequence of this change is not predictable, but a skip of exon 3 is very likely." "Unknown" "" "" "0" "" "" "g.44109284G>A" "" "VUS" "" "0000195422" "0" "77" "11" "44130834" "44130834" "subst" "0" "02210" "EXT2_000105" "g.44130834G>T" "" "" "" "" "This substitution is located in the donor splice site of intron 3. The consequence of this change is not predictable, but a skip of exon 3 is very likely." "Unknown" "" "" "0" "" "" "g.44109284G>T" "" "likely pathogenic" "" "0000195423" "0" "77" "11" "44130834" "44130834" "subst" "0" "02212" "EXT2_000105" "g.44130834G>T" "" "" "" "c.626(+1)G>T" "This substitution is located in the donor splice site of intron 3. The consequence of this change is not predictable, but a skip of exon 3 is very likely." "Germline" "" "" "0" "" "" "g.44109284G>T" "" "likely pathogenic" "" "0000195424" "0" "77" "11" "44135733" "44135733" "subst" "0" "02210" "EXT2_000106" "g.44135733A>G" "" "" "" "" "This substitution is located in the acceptor splice site of intron 3. The consequence of this change is not predictable, but a skip of exon 4 is very likely." "Germline" "" "" "0" "" "" "g.44114183A>G" "" "likely pathogenic" "" "0000195425" "0" "77" "11" "44135734" "44135734" "subst" "0" "02213" "EXT2_000287" "g.44135734G>C" "" "" "" "" "This substitution is located in the acceptor splice site of intron 5. The consequence of this change is not predictable, but a skip of exon 6 is very likely." "Unknown" "" "" "0" "" "" "g.44114184G>C" "" "likely pathogenic" "" "0000195426" "0" "77" "11" "44135739" "44135739" "dup" "0" "02210" "EXT2_000107" "g.44135739dup" "" "" "" "629-631insC" "" "Germline" "" "" "0" "" "" "g.44114189dup" "" "likely pathogenic" "" "0000195427" "0" "77" "11" "44135760" "44135760" "del" "0" "02210" "EXT2_000108" "g.44135760del" "" "" "" "649-652delT" "" "Germline" "" "" "0" "" "" "g.44114210del" "" "likely pathogenic" "" "0000195428" "0" "77" "11" "44135767" "44135767" "subst" "0" "02210" "EXT2_000109" "g.44135767G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44114217G>A" "" "likely pathogenic" "" "0000195429" "0" "77" "11" "44135767" "44135767" "subst" "0" "02212" "EXT2_000109" "g.44135767G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44114217G>A" "" "likely pathogenic" "" "0000195430" "0" "77" "11" "44135769" "44135769" "del" "0" "02212" "EXT2_000256" "g.44135769del" "" "" "" "c.661delA" "" "Unknown" "" "" "0" "" "" "g.44114219del" "" "likely pathogenic" "" "0000195431" "0" "77" "11" "44135770" "44135771" "delins" "0" "02210" "EXT2_000110" "g.44135770_44135771delinsG" "" "" "" "662-663delCTinsG" "" "Germline" "" "" "0" "" "" "g.44114220_44114221delinsG" "" "likely pathogenic" "" "0000195432" "0" "77" "11" "44135774" "44135774" "subst" "0" "02210" "EXT2_000377" "g.44135774C>A" "" "" "" "" "Located in a possible crucial domain for the proper functioning of the protein." "Unknown" "" "" "0" "" "" "g.44114224C>A" "" "likely pathogenic" "" "0000195433" "0" "77" "11" "44135774" "44135774" "subst" "0" "02210" "EXT2_000111" "g.44135774C>G" "" "" "" "(Protein: Y222X, TAC>TAG)" "Located in a possible crucial domain for the proper functioning of the protein." "Germline" "" "" "0" "" "" "g.44114224C>G" "" "likely pathogenic" "" "0000195434" "0" "77" "11" "44135774" "44135774" "subst" "0" "02210" "EXT2_000111" "g.44135774C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44114224C>G" "" "likely pathogenic" "" "0000195435" "0" "77" "11" "44135774" "44135774" "subst" "0" "02210" "EXT2_000111" "g.44135774C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44114224C>G" "" "likely pathogenic" "" "0000195436" "0" "77" "11" "44135774" "44135774" "subst" "0" "02212" "EXT2_000111" "g.44135774C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44114224C>G" "" "likely pathogenic" "" "0000195437" "0" "79" "11" "44135776" "44135776" "subst" "0" "02210" "EXT2_000114" "g.44135776G>C" "" "" "" "" "This variant is reported as pathogenic by Uniprot." "Germline" "" "" "0" "" "" "g.44114226G>C" "" "likely pathogenic" "" "0000195438" "0" "79" "11" "44135776" "44135776" "subst" "0" "02210" "EXT2_000114" "g.44135776G>C" "" "" "" "" "This variant is reported as pathogenic by Uniprot." "Germline" "" "" "0" "" "" "g.44114226G>C" "" "likely pathogenic" "" "0000195439" "0" "77" "11" "44135776" "44135776" "subst" "0" "02213" "EXT2_000114" "g.44135776G>C" "" "" "" "699G>C; R223P" "This variant is reported as pathogenic by Uniprot." "Unknown" "" "" "0" "" "" "g.44114226G>C" "" "likely pathogenic" "" "0000195440" "0" "79" "11" "44135776" "44135776" "subst" "0" "02210" "EXT2_000114" "g.44135776G>C" "" "" "" "" "This variant is reported as pathogenic by Uniprot." "Unknown" "" "" "0" "" "" "g.44114226G>C" "" "likely pathogenic" "" "0000195441" "0" "77" "11" "44135776" "44135776" "subst" "0" "02210" "EXT2_000114" "g.44135776G>C" "" "" "" "" "This variant is reported as pathogenic by Uniprot." "Unknown" "" "" "0" "" "" "g.44114226G>C" "" "likely pathogenic" "" "0000195442" "0" "79" "11" "44135787" "44135787" "subst" "0" "02210" "EXT2_000116" "g.44135787G>A" "" "" "" "(Protein: D227N, GAT>AAT)" "This variant is reported as pathogenic by Uniprot. Located in a possible crucial domain for the proper functioning of the protein." "Germline" "" "" "0" "" "" "g.44114237G>A" "" "likely pathogenic" "" "0000195443" "0" "79" "11" "44135787" "44135787" "subst" "0" "02210" "EXT2_000116" "g.44135787G>A" "" "" "" "(Protein: D227N, GAT>AAT)" "This variant is reported as pathogenic by Uniprot. Located in a possible crucial domain for the proper functioning of the protein." "Germline" "" "" "0" "" "" "g.44114237G>A" "" "likely pathogenic" "" "0000195444" "0" "79" "11" "44135787" "44135787" "subst" "0" "02210" "EXT2_000116" "g.44135787G>A" "" "" "" "" "This variant is reported as pathogenic by Uniprot." "Unknown" "" "" "0" "" "" "g.44114237G>A" "" "likely pathogenic" "" "0000195445" "0" "79" "11" "44135787" "44135787" "subst" "0" "02210" "EXT2_000116" "g.44135787G>A" "" "" "" "" "This variant is reported as pathogenic by Uniprot." "Unknown" "" "" "0" "" "" "g.44114237G>A" "" "likely pathogenic" "" "0000195446" "0" "79" "11" "44135787" "44135787" "subst" "0" "02210" "EXT2_000116" "g.44135787G>A" "" "" "" "" "This variant is reported as pathogenic by Uniprot." "Germline" "" "" "0" "" "" "g.44114237G>A" "" "likely pathogenic" "" "0000195447" "0" "79" "11" "44135787" "44135787" "subst" "0" "02210" "EXT2_000116" "g.44135787G>A" "" "" "" "" "This variant is reported as pathogenic by Uniprot." "Germline" "" "" "0" "" "" "g.44114237G>A" "" "likely pathogenic" "" "0000195448" "0" "79" "11" "44135787" "44135787" "subst" "0" "02210" "EXT2_000116" "g.44135787G>A" "" "" "" "" "This variant is reported as pathogenic by Uniprot." "Germline" "" "" "0" "" "" "g.44114237G>A" "" "likely pathogenic" "" "0000195449" "0" "79" "11" "44135787" "44135787" "subst" "0" "02210" "EXT2_000116" "g.44135787G>A" "" "" "" "" "This variant is reported as pathogenic by Uniprot." "Germline" "" "" "0" "" "" "g.44114237G>A" "" "likely pathogenic" "" "0000195450" "0" "79" "11" "44135787" "44135787" "subst" "0" "02210" "EXT2_000116" "g.44135787G>A" "" "" "" "" "This variant is reported as pathogenic by Uniprot." "Germline" "" "" "0" "" "" "g.44114237G>A" "" "likely pathogenic" "" "0000195451" "0" "79" "11" "44135787" "44135787" "subst" "0" "02210" "EXT2_000116" "g.44135787G>A" "" "" "" "" "This variant is reported as pathogenic by Uniprot." "Germline" "" "" "0" "" "" "g.44114237G>A" "" "likely pathogenic" "" "0000195452" "0" "79" "11" "44135787" "44135787" "subst" "0" "02210" "EXT2_000116" "g.44135787G>A" "" "" "" "" "This variant is reported as pathogenic by Uniprot." "Germline" "" "" "0" "" "" "g.44114237G>A" "" "likely pathogenic" "" "0000195453" "0" "79" "11" "44135787" "44135787" "subst" "0" "02210" "EXT2_000116" "g.44135787G>A" "" "" "" "" "This variant is reported as pathogenic by Uniprot." "Unknown" "" "" "0" "" "" "g.44114237G>A" "" "likely pathogenic" "" "0000195454" "0" "79" "11" "44135787" "44135787" "subst" "0" "02210" "EXT2_000116" "g.44135787G>A" "" "" "" "" "This variant is reported as pathogenic by Uniprot." "Germline" "" "" "0" "" "" "g.44114237G>A" "" "likely pathogenic" "" "0000195455" "0" "77" "11" "44135787" "44135787" "subst" "0" "02215" "EXT2_000116" "g.44135787G>A" "" "" "" "(Protein: D227N, GAT>AAT)" "This variant is reported as pathogenic by Uniprot. Located in a possible crucial domain for the proper functioning of the protein." "Germline" "" "" "0" "" "" "g.44114237G>A" "" "likely pathogenic" "" "0000195456" "0" "77" "11" "44135787" "44135787" "subst" "0" "02215" "EXT2_000116" "g.44135787G>A" "" "" "" "" "This variant is reported as pathogenic by Uniprot. Located in a possible crucial domain for the proper functioning of the protein." "Unknown" "" "" "0" "" "" "g.44114237G>A" "" "likely pathogenic" "" "0000195457" "0" "77" "11" "44135787" "44135787" "subst" "0" "02210" "EXT2_000116" "g.44135787G>A" "" "" "" "" "This variant is reported as pathogenic by Uniprot. Located in a possible crucial domain for the proper functioning of the protein." "Germline" "" "" "0" "" "" "g.44114237G>A" "" "likely pathogenic" "" "0000195458" "0" "55" "11" "44135787" "44135787" "subst" "0" "02215" "EXT2_000116" "g.44135787G>A" "" "" "" "(Protein: D227N, GAT>AAT)" "This variant is reported as pathogenic by Uniprot. Located in a possible crucial domain for the proper functioning of the protein." "Unknown" "" "" "0" "" "" "g.44114237G>A" "" "VUS" "" "0000195459" "0" "77" "11" "44135789" "44135789" "subst" "0" "02210" "EXT2_000125" "g.44135789T>G" "" "" "" "(Protein: Codon 227, GAT>GAG)" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to Fruitfly, Small physicochemical difference between Asp & Glu (Grantham dist.: 45 [0-215]), his variation is in protein domain: Exostosin-like." "Unknown" "" "" "0" "" "" "g.44114239T>G" "" "likely pathogenic" "" "0000195460" "0" "77" "11" "44135807" "44135807" "dup" "0" "02212" "EXT2_000258" "g.44135807dup" "" "" "" "c.699_700insT" "" "Unknown" "" "" "0" "" "" "g.44114257dup" "" "likely pathogenic" "" "0000195461" "0" "77" "11" "44135809" "44135809" "dup" "0" "02212" "EXT2_000259" "g.44135809dup" "" "" "" "c.701_702insG" "" "Germline" "" "" "0" "" "" "g.44114259dup" "" "likely pathogenic" "" "0000195462" "0" "77" "11" "44135817" "44135820" "del" "0" "02212" "EXT2_000260" "g.44135817_44135820del" "" "" "" "c.709_712del(TCAG)" "" "Unknown" "" "" "0" "" "" "g.44114267_44114270del" "" "likely pathogenic" "" "0000195463" "0" "77" "11" "44135817" "44135820" "del" "0" "02215" "EXT2_000260" "g.44135817_44135820del" "" "" "" "c.709_712del(TCAG)" "" "Germline" "" "" "0" "" "" "g.44114267_44114270del" "" "likely pathogenic" "" "0000195464" "0" "77" "11" "44135818" "44135818" "subst" "0.00272918" "02152" "EXT2_000126" "g.44135818C>T" "" "" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to Zebrafish, Large physicochemical difference between Ser & Leu (Grantham dist.: 145 [0-215]), This variation is in protein domain: Exostosin-like." "Unknown" "" "" "0" "" "" "g.44114268C>T" "" "likely pathogenic" "" "0000195465" "0" "59" "11" "44135818" "44135818" "subst" "0" "02215" "EXT2_000386" "g.44135818C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44114268C>G" "" "VUS" "" "0000195466" "0" "77" "11" "44135818" "44135818" "subst" "0.00272918" "02210" "EXT2_000126" "g.44135818C>T" "" "" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to Zebrafish, Large physicochemical difference between Ser & Leu (Grantham dist.: 145 [0-215]), This variation is in protein domain: Exostosin-like." "Germline" "" "" "0" "" "" "g.44114268C>T" "" "likely pathogenic" "" "0000195467" "0" "77" "11" "44135838" "44135838" "subst" "0" "02210" "EXT2_000302" "g.44135838G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44114288G>T" "" "likely pathogenic" "" "0000195468" "0" "77" "11" "44135852" "44135852" "subst" "0" "02210" "EXT2_000127" "g.44135852G>A" "" "" "" "" "This substitution is located in the donor splice site of intron 4." "Unknown" "" "" "0" "" "" "g.44114302G>A" "" "likely pathogenic" "" "0000195469" "0" "77" "11" "44135852" "44135852" "subst" "0" "02210" "EXT2_000128" "g.44135852G>C" "" "" "" "" "This substitution is located in the donor splice site of intron 4. The consequence of this change is not predictable, but a skip of exon 4 is very likely." "Germline" "" "" "0" "" "" "g.44114302G>C" "" "likely pathogenic" "" "0000195470" "0" "77" "11" "44135852" "44135852" "subst" "0" "02210" "EXT2_000129" "g.44135852G>T" "" "" "" "" "This substitution is located in the donor splice site of intron 4. The consequence of this change is not predictable, but a skip of exon 4 is very likely." "Germline" "" "" "0" "" "" "g.44114302G>T" "" "likely pathogenic" "" "0000195471" "0" "77" "11" "44146334" "44146336" "del" "0" "02210" "EXT2_000130" "g.44146334_44146336del" "" "" "" "744-3_-5delTGT" "This deletion is close to the acceptor splice site of exon 5. The consequence of this change is not predictable, but a skip of exon 5 is possible." "Unknown" "" "" "0" "" "" "g.44124784_44124786del" "" "likely pathogenic" "" "0000195472" "0" "77" "11" "44146337" "44146337" "subst" "0" "02210" "EXT2_000325" "g.44146337A>C" "" "" "" "" "This deletion is close to the acceptor splice site of exon 5. The consequence of this change is not predictable, but a skip of exon 5 is possible." "Germline" "" "" "0" "" "" "g.44124787A>C" "" "likely pathogenic" "" "0000195473" "0" "77" "11" "44146346" "44146346" "subst" "0" "02210" "EXT2_000131" "g.44146346C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44124796C>T" "" "likely pathogenic" "" "0000195474" "0" "77" "11" "44146346" "44146346" "subst" "0" "02213" "EXT2_000131" "g.44146346C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44124796C>T" "" "likely pathogenic" "" "0000195475" "0" "77" "11" "44146346" "44146346" "subst" "0" "02210" "EXT2_000131" "g.44146346C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44124796C>T" "" "likely pathogenic" "" "0000195476" "0" "77" "11" "44146346" "44146346" "subst" "0" "02210" "EXT2_000131" "g.44146346C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44124796C>T" "" "likely pathogenic" "" "0000195477" "0" "77" "11" "44146351" "44146351" "subst" "0" "02210" "EXT2_000132" "g.44146351C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44124801C>G" "" "likely pathogenic" "" "0000195478" "0" "77" "11" "44146351" "44146351" "subst" "0" "02213" "EXT2_000132" "g.44146351C>G" "" "" "" "754C>G; Y252X" "" "Unknown" "" "" "0" "" "" "g.44124801C>G" "" "likely pathogenic" "" "0000195479" "0" "77" "11" "44146359" "44146359" "subst" "0" "02210" "EXT2_000133" "g.44146359T>C" "" "" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to Zebrafish, Moderate physicochemical difference between Leu & Pro (Grantham dist.: 98 [0-215]), This variation is in protein domain: Exostosin-like." "Germline" "" "" "0" "" "" "g.44124809T>C" "" "likely pathogenic" "" "0000195480" "0" "77" "11" "44146359" "44146359" "subst" "0" "02210" "EXT2_000133" "g.44146359T>C" "" "" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to Zebrafish, Moderate physicochemical difference between Leu & Pro (Grantham dist.: 98 [0-215]), This variation is in protein domain: Exostosin-like." "Unknown" "" "" "0" "" "" "g.44124809T>C" "" "likely pathogenic" "" "0000195481" "0" "77" "11" "44146359" "44146359" "subst" "0" "02152" "EXT2_000133" "g.44146359T>C" "" "" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to Zebrafish, Moderate physicochemical difference between Leu & Pro (Grantham dist.: 98 [0-215]), This variation is in protein domain: Exostosin-like." "Unknown" "" "" "0" "" "" "g.44124809T>C" "" "likely pathogenic" "" "0000195482" "0" "77" "11" "44146367" "44146367" "subst" "0" "02210" "EXT2_000135" "g.44146367C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44124817C>T" "" "likely pathogenic" "" "0000195483" "0" "77" "11" "44146367" "44146367" "subst" "0" "02210" "EXT2_000135" "g.44146367C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44124817C>T" "" "likely pathogenic" "" "0000195484" "0" "77" "11" "44146367" "44146367" "subst" "0" "02210" "EXT2_000135" "g.44146367C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44124817C>T" "" "likely pathogenic" "" "0000195485" "0" "77" "11" "44146367" "44146367" "subst" "0" "02212" "EXT2_000135" "g.44146367C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44124817C>T" "" "likely pathogenic" "" "0000195486" "0" "77" "11" "44146367" "44146367" "subst" "0" "02212" "EXT2_000135" "g.44146367C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44124817C>T" "" "likely pathogenic" "" "0000195487" "0" "77" "11" "44146367" "44146367" "subst" "0" "02212" "EXT2_000135" "g.44146367C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44124817C>T" "" "likely pathogenic" "" "0000195488" "0" "77" "11" "44146367" "44146367" "subst" "0" "02210" "EXT2_000135" "g.44146367C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44124817C>T" "" "likely pathogenic" "" "0000195489" "0" "77" "11" "44146367" "44146367" "subst" "0" "02210" "EXT2_000135" "g.44146367C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.44124817C>T" "" "likely pathogenic" "" "0000195490" "0" "77" "11" "44146370" "44146370" "del" "0" "02210" "EXT2_000375" "g.44146370del" "" "" "" "775delG" "" "Unknown" "" "" "0" "" "" "g.44124820del" "" "likely pathogenic" "" "0000195491" "0" "77" "11" "44146390" "44146390" "subst" "0" "02210" "EXT2_000138" "g.44146390C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44124840C>G" "" "likely pathogenic" "" "0000195492" "0" "77" "11" "44146390" "44146390" "subst" "0" "02215" "EXT2_000138" "g.44146390C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44124840C>G" "" "likely pathogenic" "" "0000195493" "0" "77" "11" "44146409" "44146409" "del" "0" "02210" "EXT2_000139" "g.44146409del" "" "" "" "812-814delC" "Deletion of one of three cytosines." "Germline" "" "" "0" "" "" "g.44124859del" "" "likely pathogenic" "" "0000195494" "0" "77" "11" "44146412" "44146412" "subst" "0" "02210" "EXT2_000330" "g.44146412C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44124862C>T" "" "likely pathogenic" "" "0000195495" "0" "77" "11" "44146424" "44146424" "subst" "0" "02210" "EXT2_000140" "g.44146424G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44124874G>T" "" "likely pathogenic" "" "0000195496" "0" "77" "11" "44146424" "44146424" "subst" "0" "02210" "EXT2_000140" "g.44146424G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44124874G>T" "" "likely pathogenic" "" "0000195497" "0" "77" "11" "44146427" "44146427" "subst" "0" "02210" "EXT2_000348" "g.44146427G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44124877G>T" "" "likely pathogenic" "" "0000195498" "0" "77" "11" "44146429" "44146429" "del" "0" "02212" "EXT2_000264" "g.44146429del" "" "" "" "c.834delG" "" "Germline" "" "" "0" "" "" "g.44124879del" "" "likely pathogenic" "" "0000195499" "0" "77" "11" "44146452" "44146452" "dup" "0" "02210" "EXT2_000327" "g.44146452dup" "" "" "" "c.857_858insG" "" "Germline" "" "" "0" "" "" "g.44124902dup" "" "likely pathogenic" "" "0000195500" "0" "77" "11" "44146453" "44146453" "subst" "0" "02210" "EXT2_000368" "g.44146453C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44124903C>A" "" "likely pathogenic" "" "0000195501" "0" "77" "11" "44146454" "44146454" "del" "0" "02210" "EXT2_000142" "g.44146454del" "" "" "" "859delA" "" "Germline" "" "" "0" "" "" "g.44124904del" "" "likely pathogenic" "" "0000195502" "0" "77" "11" "44146488" "44146488" "del" "0" "02212" "EXT2_000265" "g.44146488del" "" "" "" "c.893delA" "" "Germline" "" "" "0" "" "" "g.44124938del" "" "likely pathogenic" "" "0000195503" "0" "77" "11" "44146491" "44146491" "subst" "0.000556951" "02210" "EXT2_000143" "g.44146491G>A" "" "" "" "(Protein: Codon 299, CGC>CAC)" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to Fruitfly, Small physicochemical difference between Arg & His (Grantham dist.: 29 [0-215]), This variation is in protein domain: Exostosin-like." "Unknown" "" "" "0" "" "" "g.44124941G>A" "" "likely pathogenic" "" "0000195504" "0" "77" "11" "44146500" "44146500" "del" "0" "02212" "EXT2_000266" "g.44146500del" "" "" "" "c.905delA" "" "Germline" "" "" "0" "" "" "g.44124950del" "" "likely pathogenic" "" "0000195505" "0" "77" "11" "44146501" "44146501" "del" "0" "02210" "EXT2_000145" "g.44146501del" "" "" "" "907delG" "" "Germline" "" "" "0" "" "" "g.44124951del" "" "likely pathogenic" "" "0000195506" "0" "77" "11" "44146501" "44146501" "del" "0" "02210" "EXT2_000145" "g.44146501del" "" "" "" "907delG" "" "Germline" "" "" "0" "" "" "g.44124951del" "" "likely pathogenic" "" "0000195507" "0" "77" "11" "44146501" "44146502" "dup" "0" "02210" "EXT2_000144" "g.44146501_44146502dup" "" "" "" "907insGC" "" "Germline" "" "" "0" "" "" "g.44124951_44124952dup" "" "likely pathogenic" "" "0000195508" "0" "77" "11" "44146508" "44146508" "del" "0" "02210" "EXT2_000147" "g.44146508del" "" "" "" "913delG" "" "Unknown" "" "" "0" "" "" "g.44124958del" "" "likely pathogenic" "" "0000195509" "0" "77" "11" "44146508" "44146508" "del" "0" "02212" "EXT2_000147" "g.44146508del" "" "" "" "c.913delG" "" "Unknown" "" "" "0" "" "" "g.44124958del" "" "likely pathogenic" "" "0000195510" "0" "77" "11" "44146514" "44146514" "subst" "6.10173E-5" "02152" "EXT2_000226" "g.44146514G>A" "" "" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to Zebrafish, Small physicochemical difference between Asp & Asn (Grantham dist.: 23 [0-215]), This variation is in protein domain: Exostosin-like." "Unknown" "" "" "0" "" "" "g.44124964G>A" "" "likely pathogenic" "" "0000195511" "0" "77" "11" "44146521" "44146521" "del" "0" "02210" "EXT2_000148" "g.44146521del" "" "" "" "926delC" "" "Germline" "" "" "0" "" "" "g.44124971del" "" "likely pathogenic" "" "0000195512" "0" "77" "11" "44146532" "44146532" "subst" "8.14591E-6" "02210" "EXT2_000149" "g.44146532C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44124982C>T" "" "likely pathogenic" "" "0000195513" "0" "77" "11" "44146532" "44146532" "subst" "8.14591E-6" "02210" "EXT2_000149" "g.44146532C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44124982C>T" "" "likely pathogenic" "" "0000195514" "0" "77" "11" "44146533" "44146533" "del" "0" "02152" "EXT2_000227" "g.44146533del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44124983del" "" "likely pathogenic" "" "0000195515" "0" "77" "11" "44146535" "44146535" "subst" "0" "02210" "EXT2_000151" "g.44146535G>A" "" "" "" "" "This substitution is located in the donor splice site of intron 5. The consequence of this change is not predictable, but a skip of exon 5 is very likely." "Germline" "" "" "0" "" "" "g.44124985G>A" "" "likely pathogenic" "" "0000195516" "0" "77" "11" "44146535" "44146535" "subst" "0" "02210" "EXT2_000151" "g.44146535G>A" "" "" "" "" "This substitution is located in the donor splice site of intron 5. The consequence of this change is not predictable, but a skip of exon 5 is very likely." "Unknown" "" "" "0" "" "" "g.44124985G>A" "" "likely pathogenic" "" "0000195517" "0" "77" "11" "44146536" "44146536" "subst" "0" "02210" "EXT2_000328" "g.44146536T>T" "" "" "" "" "This substitution is located in the donor splice site of intron 5. The consequence of this change is not predictable, but a skip of exon 5 is very likely.\r\nVariant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "g.44124986T>T" "" "likely pathogenic" "" "0000195518" "0" "11" "11" "44146564" "44146564" "subst" "0.0117309" "02210" "EXT2_000300" "g.44146564G>A" "" "" "" "" "Substitution in intron 5. The consequence of this change is not predictable." "Unknown" "" "" "0" "" "" "g.44125014G>A" "" "benign" "" "0000195519" "0" "77" "11" "44148365" "44148365" "subst" "0" "02210" "EXT2_000152" "g.44148365G>A" "" "" "" "" "This substitution is located in the acceptor splice site of intron 5. The consequence of this change is not predictable, but a skip of exon 6 is very likely." "Unknown" "" "" "0" "" "" "g.44126815G>A" "" "likely pathogenic" "" "0000195520" "0" "77" "11" "44148365" "44148365" "subst" "0" "02212" "EXT2_000152" "g.44148365G>A" "" "" "" "c.940(-1)G>A" "This substitution is located in the acceptor splice site of intron 5. The consequence of this change is not predictable, but a skip of exon 6 is very likely." "Germline" "" "" "0" "" "" "g.44126815G>A" "" "likely pathogenic" "" "0000195521" "0" "77" "11" "44148365" "44151689" "del" "0" "02152" "EXT2_000217" "g.44148365_44151689del" "" "" "" "c.940+?_1173+?del (del ex 6-7)" "" "Unknown" "" "" "0" "" "" "g.44126815_44130139del" "" "likely pathogenic" "" "0000195522" "0" "77" "11" "44148367" "44148369" "ins" "0" "02210" "EXT2_000153" "g.44148367_44148369insT" "" "" "" "c.942insT" "Variant Error [ESYNTAX]: This genomic variant has an error (insertion length must be 1). Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.44126817_44126819insT" "" "likely pathogenic" "" "0000195523" "0" "77" "11" "44148367" "44148369" "ins" "0" "02210" "EXT2_000153" "g.44148367_44148369insT" "" "" "" "c.942insT" "Variant Error [ESYNTAX]: This genomic variant has an error (insertion length must be 1). Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.44126817_44126819insT" "" "likely pathogenic" "" "0000195524" "0" "77" "11" "44148387" "44148387" "del" "0" "02212" "EXT2_000269" "g.44148387del" "" "" "" "c.961delC" "" "Germline" "" "" "0" "" "" "g.44126837del" "" "likely pathogenic" "" "0000195525" "0" "77" "11" "44148408" "44148408" "subst" "0" "02210" "EXT2_000155" "g.44148408C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44126858C>T" "" "likely pathogenic" "" "0000195526" "0" "77" "11" "44148409" "44148409" "del" "0" "02215" "EXT2_000381" "g.44148409del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44126859del" "" "likely pathogenic" "" "0000195527" "0" "77" "11" "44148409" "44148409" "del" "0" "02215" "EXT2_000381" "g.44148409del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44126859del" "" "likely pathogenic" "" "0000195528" "0" "77" "11" "44148430" "44148430" "del" "0" "02215" "EXT2_000356" "g.44148430del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44126880del" "" "likely pathogenic" "" "0000195529" "0" "77" "11" "44148432" "44148432" "subst" "0" "02210" "EXT2_000331" "g.44148432C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44126882C>T" "" "likely pathogenic" "" "0000195530" "0" "77" "11" "44148442" "44148442" "subst" "0" "02210" "EXT2_000346" "g.44148442G>A" "" "" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to Fruitfly, Large physicochemical difference between Cys & Tyr (Grantham dist.: 194 [0-215]), This variation is in protein domain: Exostosin-like." "Unknown" "" "" "0" "" "" "g.44126892G>A" "" "likely pathogenic" "" "0000195531" "0" "77" "11" "44148443" "44148443" "subst" "0" "02212" "EXT2_000270" "g.44148443T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44126893T>A" "" "likely pathogenic" "" "0000195532" "0" "77" "11" "44148481" "44148481" "del" "0" "02210" "EXT2_000156" "g.44148481del" "" "" "" "1055delT" "" "Germline" "" "" "0" "" "" "g.44126931del" "" "likely pathogenic" "" "0000195533" "0" "77" "11" "44148487" "44148488" "ins" "0" "02210" "EXT2_000157" "g.44148487_44148488insC" "" "" "" "1061_1062insC" "" "Unknown" "" "" "0" "" "" "g.44126937_44126938insC" "" "likely pathogenic" "" "0000195534" "0" "77" "11" "44148489" "44148490" "ins" "0" "02210" "EXT2_000369" "g.44148489_44148490insCTT" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44126939_44126940insCTT" "" "likely pathogenic" "" "0000195535" "0" "77" "11" "44148491" "44148491" "dup" "0" "02210" "EXT2_000317" "g.44148491dup" "" "" "" "c.1065dupT" "" "Germline" "" "" "0" "" "" "g.44126941dup" "" "likely pathogenic" "" "0000195536" "0" "77" "11" "44148498" "44148498" "subst" "0" "02212" "EXT2_000271" "g.44148498T>A" "" "" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to Fruitfly, Moderate physicochemical difference between Trp & Arg (Grantham dist.: 101 [0-215]), This variation is in protein domain: Exostosin-like." "Germline" "" "" "0" "" "" "g.44126948T>A" "" "likely pathogenic" "" "0000195537" "0" "77" "11" "44148499" "44148499" "subst" "4.06131E-6" "02212" "EXT2_000272" "g.44148499G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44126949G>A" "" "likely pathogenic" "" "0000195538" "0" "77" "11" "44148499" "44148502" "delins" "0" "02210" "EXT2_000158" "g.44148499_44148502delinsCT" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44126949_44126952delinsCT" "" "likely pathogenic" "" "0000195539" "0" "77" "11" "44148506" "44148506" "subst" "0" "02210" "EXT2_000159" "g.44148506G>A" "" "" "" "" "This substitution is located in the donor splice site of intron 6. The consequence of this change is not predictable, but a skip of exon 6 is very likely." "Germline" "" "" "0" "" "" "g.44126956G>A" "" "likely pathogenic" "" "0000195540" "0" "77" "11" "44148506" "44148506" "subst" "0" "02210" "EXT2_000160" "g.44148506G>C" "" "" "" "" "This substitution is located in the donor splice site of intron 6. The consequence of this change is not predictable, but a skip of exon 6 is very likely." "Germline" "" "" "0" "" "" "g.44126956G>C" "" "likely pathogenic" "" "0000195541" "0" "77" "11" "44148507" "44148507" "subst" "0" "02210" "EXT2_000161" "g.44148507T>G" "" "" "" "" "This substitution is located in the donor splice site of intron 6. The consequence of this change is not predictable, but a skip of exon 6 is very likely." "Unknown" "" "" "0" "" "" "g.44126957T>G" "" "likely pathogenic" "" "0000195542" "0" "11" "11" "44151577" "44151577" "subst" "0.343558" "02210" "EXT2_000162" "g.44151577T>A" "403" "" "" "" "SNP rs11037882 T/A" "Unknown" "" "" "0" "" "" "g.44130027T>A" "" "benign" "" "0000195543" "0" "77" "11" "44151593" "44151593" "subst" "0" "02210" "EXT2_000163" "g.44151593A>G" "" "" "" "" "This substitution is located in the acceptor splice site of intron 6. The consequence of this change is not predictable, but a skip of exon 7 is very likely." "Germline" "" "" "0" "" "" "g.44130043A>G" "" "likely pathogenic" "" "0000195544" "0" "77" "11" "44151593" "44151593" "subst" "0" "02210" "EXT2_000163" "g.44151593A>G" "" "" "" "" "This substitution is located in the acceptor splice site of intron 6. The consequence of this change is not predictable, but a skip of exon 7 is very likely." "Unknown" "" "" "0" "" "" "g.44130043A>G" "" "likely pathogenic" "" "0000195545" "0" "77" "11" "44151593" "44151593" "subst" "0" "02210" "EXT2_000163" "g.44151593A>G" "" "" "" "" "This substitution is located in the acceptor splice site of intron 6. The consequence of this change is not predictable, but a skip of exon 7 is very likely." "Germline" "" "" "0" "" "" "g.44130043A>G" "" "likely pathogenic" "" "0000195546" "0" "77" "11" "44151593" "44151593" "subst" "0" "02210" "EXT2_000163" "g.44151593A>G" "" "" "" "" "This substitution is located in the acceptor splice site of intron 6. The consequence of this change is not predictable, but a skip of exon 7 is very likely." "Germline" "" "" "0" "" "" "g.44130043A>G" "" "likely pathogenic" "" "0000195547" "0" "77" "11" "44151593" "44151593" "subst" "0" "02210" "EXT2_000163" "g.44151593A>G" "" "" "" "" "This substitution is located in the acceptor splice site of intron 6. The consequence of this change is not predictable, but a skip of exon 7 is very likely." "Germline" "" "" "0" "" "" "g.44130043A>G" "" "likely pathogenic" "" "0000195548" "0" "77" "11" "44151593" "44151593" "subst" "0" "02152" "EXT2_000163" "g.44151593A>G" "" "" "" "" "This substitution is located in the acceptor splice site of intron 6. The consequence of this change is not predictable, but a skip of exon 7 is very likely." "Unknown" "" "" "0" "" "" "g.44130043A>G" "" "likely pathogenic" "" "0000195549" "0" "77" "11" "44151593" "44151593" "subst" "0" "02152" "EXT2_000163" "g.44151593A>G" "" "" "" "" "This substitution is located in the acceptor splice site of intron 6. The consequence of this change is not predictable, but a skip of exon 7 is very likely." "Unknown" "" "" "0" "" "" "g.44130043A>G" "" "likely pathogenic" "" "0000195550" "0" "77" "11" "44151608" "44151608" "del" "0" "02210" "EXT2_000168" "g.44151608del" "" "" "" "1093delG" "" "Germline" "" "" "0" "" "" "g.44130058del" "" "likely pathogenic" "" "0000195551" "0" "77" "11" "44151619" "44151620" "ins" "0" "02210" "EXT2_000169" "g.44151619_44151620insGA" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44130069_44130070insGA" "" "likely pathogenic" "" "0000195552" "0" "77" "11" "44151627" "44151627" "subst" "0" "02210" "EXT2_000170" "g.44151627C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44130077C>G" "" "likely pathogenic" "" "0000195553" "0" "77" "11" "44151645" "44151645" "subst" "0" "02152" "EXT2_000230" "g.44151645T>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44130095T>A" "" "likely pathogenic" "" "0000195554" "0" "77" "11" "44151647" "44151647" "subst" "0" "02210" "EXT2_000171" "g.44151647C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44130097C>T" "" "likely pathogenic" "" "0000195555" "0" "77" "11" "44151647" "44151647" "subst" "0" "02215" "EXT2_000171" "g.44151647C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44130097C>T" "" "likely pathogenic" "" "0000195556" "0" "77" "11" "44151654" "44151654" "dup" "0" "02210" "EXT2_000172" "g.44151654dup" "" "" "" "1139dupT" "" "Germline" "" "" "0" "" "" "g.44130104dup" "" "likely pathogenic" "" "0000195557" "0" "79" "11" "44151654" "44151654" "subst" "0" "02210" "EXT2_000173" "g.44151654T>C" "" "" "" "" "This variant is reported as pathogenic by Uniprot." "Unknown" "" "" "0" "" "" "g.44130104T>C" "" "likely pathogenic" "" "0000195558" "0" "77" "11" "44151659" "44151659" "del" "0" "02210" "EXT2_000174" "g.44151659del" "" "" "" "1144delC" "" "Germline" "" "" "0" "" "" "g.44130109del" "" "likely pathogenic" "" "0000195559" "0" "77" "11" "44151666" "44151669" "del" "0" "02210" "EXT2_000175" "g.44151666_44151669del" "" "" "" "1151-1154delAGAT" "" "Germline" "" "" "0" "" "" "g.44130116_44130119del" "" "likely pathogenic" "" "0000195560" "0" "77" "11" "44151683" "44151683" "del" "0" "02210" "EXT2_000176" "g.44151683del" "" "" "" "1168delA" "" "Germline" "" "" "0" "" "" "g.44130133del" "" "likely pathogenic" "" "0000195561" "0" "77" "11" "44151684" "44151685" "del" "0" "02210" "EXT2_000177" "g.44151684_44151685del" "" "" "" "1169-1170delGA" "" "Germline" "" "" "0" "" "" "g.44130134_44130135del" "" "likely pathogenic" "" "0000195562" "0" "77" "11" "44151689" "44151689" "dup" "0" "02210" "EXT2_000178" "g.44151689dup" "" "" "" "1173+G" "This duplication is located in the donor splice site of intron 7. The consequence of this change is not predictable, but a skip of exon 7 is very likely." "Germline" "" "" "0" "" "" "g.44130139dup" "" "likely pathogenic" "" "0000195563" "0" "77" "11" "44151689" "44151689" "subst" "0" "02210" "EXT2_000179" "g.44151689G>A" "" "" "" "" "This substitution is located in the donor splice site of intron 7. The consequence of this change is not predictable, but a skip of exon 7 is very likely." "Germline" "" "" "0" "" "" "g.44130139G>A" "" "likely pathogenic" "" "0000195564" "0" "77" "11" "44151689" "44151689" "subst" "0" "02210" "EXT2_000179" "g.44151689G>A" "" "" "" "" "This substitution is located in the donor splice site of intron 7. The consequence of this change is not predictable, but a skip of exon 7 is very likely." "Germline" "" "" "0" "" "" "g.44130139G>A" "" "likely pathogenic" "" "0000195565" "0" "77" "11" "44151689" "44151689" "subst" "0" "02210" "EXT2_000179" "g.44151689G>A" "" "" "" "" "This substitution is located in the donor splice site of intron 7. The consequence of this change is not predictable, but a skip of exon 7 is very likely." "Germline" "" "" "0" "" "" "g.44130139G>A" "" "likely pathogenic" "" "0000195566" "0" "77" "11" "44151689" "44151689" "subst" "0" "02210" "EXT2_000179" "g.44151689G>A" "" "" "" "" "This substitution is located in the donor splice site of intron 7. The consequence of this change is not predictable, but a skip of exon 7 is very likely." "Germline" "" "" "0" "" "" "g.44130139G>A" "" "likely pathogenic" "" "0000195567" "0" "77" "11" "44151689" "44151689" "subst" "0" "02210" "EXT2_000179" "g.44151689G>A" "" "" "" "" "This substitution is located in the donor splice site of intron 7. The consequence of this change is not predictable, but a skip of exon 7 is very likely." "Germline" "" "" "0" "" "" "g.44130139G>A" "" "likely pathogenic" "" "0000195568" "0" "77" "11" "44151689" "44151689" "subst" "0" "02210" "EXT2_000179" "g.44151689G>A" "" "" "" "" "This substitution is located in the donor splice site of intron 7. The consequence of this change is not predictable, but a skip of exon 7 is very likely." "Unknown" "" "" "0" "" "" "g.44130139G>A" "" "likely pathogenic" "" "0000195569" "0" "77" "11" "44151689" "44151689" "subst" "0" "02212" "EXT2_000179" "g.44151689G>A" "" "" "" "c.1173(+1)G>A" "This substitution is located in the donor splice site of intron 7. The consequence of this change is not predictable, but a skip of exon 7 is very likely." "Germline" "" "" "0" "" "" "g.44130139G>A" "" "likely pathogenic" "" "0000195570" "0" "77" "11" "44151689" "44151689" "subst" "0" "02210" "EXT2_000185" "g.44151689G>C" "" "" "" "" "This substitution is located in the donor splice site of intron 7. The consequence of this change is not predictable, but a skip of exon 7 is very likely." "Germline" "" "" "0" "" "" "g.44130139G>C" "" "likely pathogenic" "" "0000195571" "0" "77" "11" "44151689" "44151689" "subst" "0" "02210" "EXT2_000186" "g.44151689G>T" "" "" "" "" "This substitution is located in the donor splice site of intron 7. The consequence of this change is not predictable, but a skip of exon 7 is very likely." "Germline" "" "" "0" "" "" "g.44130139G>T" "" "likely pathogenic" "" "0000195572" "0" "77" "11" "44151689" "44151689" "subst" "0" "02210" "EXT2_000186" "g.44151689G>T" "" "" "" "IVS7+1G>T" "This substitution is located in the donor splice site of intron 7. The consequence of this change is not predictable, but a skip of exon 7 is very likely." "Unknown" "" "" "0" "" "" "g.44130139G>T" "" "likely pathogenic" "" "0000195573" "0" "77" "11" "44151689" "44151689" "subst" "0" "02210" "EXT2_000186" "g.44151689G>T" "" "" "" "" "This substitution is located in the donor splice site of intron 7. The consequence of this change is not predictable, but a skip of exon 7 is very likely." "Germline" "" "" "0" "" "" "g.44130139G>T" "" "likely pathogenic" "" "0000195574" "0" "77" "11" "44151689" "44151689" "subst" "0" "02210" "EXT2_000186" "g.44151689G>T" "" "" "" "" "This substitution is located in the donor splice site of intron 7. The consequence of this change is not predictable, but a skip of exon 7 is very likely." "Unknown" "" "" "0" "" "" "g.44130139G>T" "" "likely pathogenic" "" "0000195575" "0" "55" "11" "44165957" "44165957" "subst" "0" "02210" "EXT2_000189" "g.44165957A>C" "38" "" "" "" "Substitution in intron 7. The consequence of this change is not predictable." "Unknown" "" "" "0" "" "" "g.44144407A>C" "" "VUS" "" "0000195576" "0" "55" "11" "44165963" "44165963" "subst" "0" "02210" "EXT2_000190" "g.44165963C>A" "38" "" "" "" "Substitution in intron 7. The consequence of this change is not predictable." "Unknown" "" "" "0" "" "" "g.44144413C>A" "" "VUS" "" "0000195577" "0" "55" "11" "44193143" "44193143" "subst" "0.0100836" "02210" "EXT2_000191" "g.44193143G>T" "28" "" "" "" "Substitution in intron 7. The consequence of this change is not predictable." "Unknown" "" "" "0" "" "" "g.44171593G>T" "" "VUS" "" "0000195578" "0" "77" "11" "44193161" "44193161" "subst" "0" "02210" "EXT2_000305" "g.44193161G>A" "" "" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Moderately conserved amino acid, Small physicochemical difference between Ala & Thr (Grantham dist.: 58 [0-215]), This variation is in protein domain: Exostosin-like." "Germline" "" "" "0" "" "" "g.44171611G>A" "" "likely pathogenic" "" "0000195579" "0" "77" "11" "44193168" "44193168" "subst" "0" "02210" "EXT2_000192" "g.44193168G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44171618G>A" "" "likely pathogenic" "" "0000195580" "0" "77" "11" "44193168" "44193168" "subst" "0" "02210" "EXT2_000192" "g.44193168G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44171618G>A" "" "likely pathogenic" "" "0000195581" "0" "77" "11" "44193168" "44193168" "subst" "0" "02213" "EXT2_000192" "g.44193168G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44171618G>A" "" "likely pathogenic" "" "0000195582" "0" "77" "11" "44193168" "44193168" "subst" "0" "02213" "EXT2_000192" "g.44193168G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44171618G>A" "" "likely pathogenic" "" "0000195583" "0" "77" "11" "44193168" "44193168" "subst" "0" "02213" "EXT2_000192" "g.44193168G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44171618G>A" "" "likely pathogenic" "" "0000195584" "0" "77" "11" "44193168" "44193168" "subst" "0" "02210" "EXT2_000192" "g.44193168G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44171618G>A" "" "likely pathogenic" "" "0000195585" "0" "77" "11" "44193168" "44193168" "subst" "0" "02210" "EXT2_000192" "g.44193168G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44171618G>A" "" "likely pathogenic" "" "0000195586" "0" "77" "11" "44193169" "44193169" "subst" "0" "02214" "EXT2_000344" "g.44193169G>A" "" "" "" "c.1182G>A" "" "De novo" "" "" "0" "" "" "g.44171619G>A" "" "likely pathogenic" "" "0000195587" "0" "77" "11" "44193172" "44193172" "del" "0" "02152" "EXT2_000231" "g.44193172del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44171622del" "" "likely pathogenic" "" "0000195588" "0" "77" "11" "44193174" "44193174" "subst" "0" "02212" "EXT2_000274" "g.44193174G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44171624G>A" "" "likely pathogenic" "" "0000195589" "0" "77" "11" "44193175" "44193175" "subst" "0" "02210" "EXT2_000194" "g.44193175G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44171625G>A" "" "likely pathogenic" "" "0000195590" "0" "77" "11" "44193175" "44193175" "subst" "0" "02210" "EXT2_000194" "g.44193175G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44171625G>A" "" "likely pathogenic" "" "0000195591" "0" "77" "11" "44193178" "44193178" "del" "0" "02210" "EXT2_000195" "g.44193178del" "" "" "" "1191delA" "" "Germline" "" "" "0" "" "" "g.44171628del" "" "likely pathogenic" "" "0000195592" "0" "77" "11" "44193184" "44193184" "subst" "0" "02212" "EXT2_000275" "g.44193184C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44171634C>A" "" "likely pathogenic" "" "0000195593" "0" "77" "11" "44193184" "44193184" "del" "0" "02212" "EXT2_000276" "g.44193184del" "" "" "" "c.1198delC" "" "Germline" "" "" "0" "" "" "g.44171634del" "" "likely pathogenic" "" "0000195594" "0" "77" "11" "44193188" "44193188" "subst" "0" "02210" "EXT2_000197" "g.44193188C>T" "" "" "" "(Protein: Q401X, CAG>TAG)" "" "De novo" "" "" "0" "" "" "g.44171638C>T" "" "likely pathogenic" "" "0000195595" "0" "77" "11" "44193188" "44193188" "subst" "0" "02210" "EXT2_000197" "g.44193188C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44171638C>T" "" "likely pathogenic" "" "0000195596" "0" "77" "11" "44193188" "44193188" "del" "0" "02210" "EXT2_000196" "g.44193188del" "" "" "" "1200delC" "" "Unknown" "" "" "0" "" "" "g.44171638del" "" "likely pathogenic" "" "0000195597" "0" "77" "11" "44193188" "44193188" "del" "0" "02212" "EXT2_000196" "g.44193188del" "" "" "" "c.1201delC" "" "Germline" "" "" "0" "" "" "g.44171638del" "" "likely pathogenic" "" "0000195598" "0" "77" "11" "44193192" "44193192" "subst" "0" "02210" "EXT2_000199" "g.44193192C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44171642C>A" "" "likely pathogenic" "" "0000195599" "0" "77" "11" "44193192" "44193192" "subst" "0" "02212" "EXT2_000199" "g.44193192C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44171642C>A" "" "likely pathogenic" "" "0000195600" "0" "77" "11" "44193196" "44193196" "del" "0" "02210" "EXT2_000200" "g.44193196del" "" "" "" "1209delT" "" "Germline" "" "" "0" "" "" "g.44171646del" "" "likely pathogenic" "" "0000195601" "0" "77" "11" "44193221" "44193221" "subst" "0" "02210" "EXT2_000201" "g.44193221C>T" "" "" "" "" "Mutation hot spot or founder effect in Chinese families?" "Germline" "" "" "0" "" "" "g.44171671C>T" "" "likely pathogenic" "" "0000195602" "0" "77" "11" "44193221" "44193221" "subst" "0" "02210" "EXT2_000201" "g.44193221C>T" "" "" "" "" "Mutation hot spot or founder effect in Chinese families?" "Germline" "" "" "0" "" "" "g.44171671C>T" "" "likely pathogenic" "" "0000195603" "0" "77" "11" "44193221" "44193221" "subst" "0" "02210" "EXT2_000201" "g.44193221C>T" "" "" "" "" "Mutation hot spot or founder effect in Chinese families?" "Germline" "" "" "0" "" "" "g.44171671C>T" "" "likely pathogenic" "" "0000195604" "0" "77" "11" "44193221" "44193221" "subst" "0" "02212" "EXT2_000201" "g.44193221C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44171671C>T" "" "likely pathogenic" "" "0000195605" "0" "77" "11" "44193237" "44193237" "subst" "0" "02210" "EXT2_000204" "g.44193237G>C" "" "" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to Fruitfly, Moderate physicochemical difference between Arg & Pro (Grantham dist.: 103 [0-215])." "Germline" "" "" "0" "" "" "g.44171687G>C" "" "likely pathogenic" "" "0000195606" "0" "77" "11" "44193237" "44193237" "subst" "0" "02210" "EXT2_000204" "g.44193237G>C" "" "" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to Fruitfly, Moderate physicochemical difference between Arg & Pro (Grantham dist.: 103 [0-215])." "Germline" "" "" "0" "" "" "g.44171687G>C" "" "likely pathogenic" "" "0000195607" "0" "77" "11" "44193237" "44193237" "subst" "0" "02210" "EXT2_000204" "g.44193237G>C" "" "" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to Fruitfly, Moderate physicochemical difference between Arg & Pro (Grantham dist.: 103 [0-215])." "Germline" "" "" "0" "" "" "g.44171687G>C" "" "likely pathogenic" "" "0000195608" "0" "77" "11" "44193238" "44193238" "del" "0" "02210" "EXT2_000207" "g.44193238del" "" "" "" "1250delG" "" "Unknown" "" "" "0" "" "" "g.44171688del" "" "likely pathogenic" "" "0000195609" "0" "77" "11" "44193244" "44193244" "subst" "0" "02210" "EXT2_000208" "g.44193244T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44171694T>A" "" "likely pathogenic" "" "0000195610" "0" "77" "11" "44193249" "44193250" "dup" "0" "02213" "EXT2_000209" "g.44193249_44193250dup" "" "" "" "1263_1264dupTA; Y421MfsX15" "" "Unknown" "" "" "0" "" "" "g.44171699_44171700dup" "" "likely pathogenic" "" "0000195611" "0" "77" "11" "44193249" "44193250" "dup" "0" "02210" "EXT2_000209" "g.44193249_44193250dup" "" "" "" "1263insAT" "" "Germline" "" "" "0" "" "" "g.44171699_44171700dup" "" "likely pathogenic" "" "0000195612" "0" "77" "11" "44193250" "44193250" "subst" "0" "02210" "EXT2_000370" "g.44193250T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44171700T>A" "" "likely pathogenic" "" "0000195613" "0" "77" "11" "44193272" "44193272" "subst" "4.06478E-6" "02210" "EXT2_000210" "g.44193272T>G" "" "" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to Fruitfly, Large physicochemical difference between Trp & Gly (Grantham dist.: 184 [0-215])." "Unknown" "" "" "0" "" "" "g.44171722T>G" "" "likely pathogenic" "" "0000195614" "0" "77" "11" "44193273" "44193273" "subst" "0" "02152" "EXT2_000316" "g.44193273G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.44171723G>A" "" "likely pathogenic" "" "0000195615" "0" "77" "11" "44193274" "44193274" "subst" "0" "02212" "EXT2_000280" "g.44193274G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44171724G>A" "" "likely pathogenic" "" "0000195616" "0" "11" "11" "44193310" "44193310" "subst" "0" "02210" "EXT2_000301" "g.44193310C>A" "" "" "" "" "Substitution in intron 8. The consequence of this change is not predictable." "Unknown" "" "" "0" "" "" "g.44171760C>A" "" "benign" "" "0000195617" "0" "55" "11" "44228374" "44228374" "subst" "0.000109658" "02210" "EXT2_000211" "g.44228374A>G" "14" "" "" "" "Synonymous substitution. Codon TTA (freq: 0.073) changed to TTG (freq: 0.127), This variation does not alter the protein sequence." "Unknown" "" "" "0" "" "" "g.44206824A>G" "" "VUS" "" "0000195618" "0" "77" "11" "44228399" "44228399" "subst" "0" "02212" "EXT2_000281" "g.44228399A>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44206849A>T" "" "likely pathogenic" "" "0000195619" "0" "55" "11" "44228488" "44228488" "subst" "0.00179124" "02210" "EXT2_000212" "g.44228488C>T" "14" "" "" "" "Synonymous substitution. Codon GAC (freq: 0.539) changed to GAT (freq: 0.461), This variation does not alter the protein sequence." "Unknown" "" "" "0" "" "" "g.44206938C>T" "" "VUS" "" "0000195620" "0" "11" "11" "44253867" "44253867" "subst" "0" "02210" "EXT2_000297" "g.44253867A>T" "" "" "" "" "Substitution in intron 10. The consequence of this change is not predictable." "Unknown" "" "" "0" "" "" "g.44232317A>T" "" "benign" "" "0000195621" "0" "77" "11" "44253909" "44253909" "del" "0" "02210" "EXT2_000213" "g.44253909del" "" "" "" "1669delC" "" "Unknown" "" "" "0" "" "" "g.44232359del" "" "likely pathogenic" "" "0000195622" "0" "11" "11" "44253946" "44253946" "subst" "0" "02210" "EXT2_000214" "g.44253946G>T" "14" "" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to Fruitfly, Moderate physicochemical difference between Arg & Leu (Grantham dist.: 102 [0-215]), This variation is in protein domain: EXTL2, alpha-1,4-N-acetylhexosaminyltransferase. Lonie: Polymorphism?" "Unknown" "" "" "0" "" "" "g.44232396G>T" "" "benign" "" "0000195623" "0" "77" "11" "44253966" "44253966" "subst" "0.000117828" "02210" "EXT2_000215" "g.44253966G>A" "" "" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Moderately conserved amino acid, Small physicochemical difference between Glu & Lys (Grantham dist.: 56 [0-215]), This variation is in protein domain: EXTL2, alpha-1,4-N-acetylhexosaminyltransferase." "Unknown" "" "" "0" "" "" "g.44232416G>A" "" "likely pathogenic" "" "0000195624" "0" "77" "11" "44254000" "44254000" "subst" "0.000699193" "02213" "EXT2_000295" "g.44254000C>T" "" "" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to Fruitfly, Moderate physicochemical difference between Thr & Met (Grantham dist.: 81 [0-215]), This variation is in protein domain: EXTL2, alpha-1,4-N-acetylhexosaminyltransferase." "Unknown" "" "" "0" "" "" "g.44232450C>T" "" "likely pathogenic" "" "0000195625" "0" "77" "11" "44254051" "44254051" "subst" "4.06928E-5" "02210" "EXT2_000332" "g.44254051G>C" "" "" "" "" "Substitution in intron 11. The consequence of this change is not predictable." "Unknown" "" "" "0" "" "" "g.44232501G>C" "" "likely pathogenic" "" "0000195626" "0" "77" "11" "44254057" "44254057" "subst" "0.000118181" "02210" "EXT2_000333" "g.44254057G>A" "" "" "" "" "Substitution in intron 11. The consequence of this change is not predictable." "Germline" "" "" "0" "" "" "g.44232507G>A" "" "likely pathogenic" "" "0000195627" "0" "55" "11" "44255613" "44255613" "subst" "0" "02210" "EXT2_000216" "g.44255613C>T" "" "" "" "1807-51C>T" "Substitution in intron 11. The consequence of this change is not predictable." "Unknown" "" "" "0" "" "" "g.44234063C>T" "" "VUS" "" "0000195628" "0" "11" "11" "44255614" "44255614" "subst" "0" "02210" "EXT2_000296" "g.44255614T>C" "" "" "" "" "SNP rs11037909 T/C" "Unknown" "" "" "0" "" "" "g.44234064T>C" "" "benign" "" "0000195629" "0" "77" "11" "44257852" "44257852" "subst" "4.07014E-5" "02210" "EXT2_000329" "g.44257852C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44236302C>T" "" "likely pathogenic" "" "0000195630" "0" "11" "11" "44257958" "44257958" "subst" "0" "02210" "EXT2_000298" "g.44257958G>A" "" "" "" "" "Substitution in intron 13. The consequence of this change is not predictable." "Unknown" "" "" "0" "" "" "g.44236408G>A" "" "benign" "" "0000195631" "0" "77" "11" "44265893" "44265893" "subst" "0" "02210" "EXT2_000002" "g.44265893G>A" "" "" "" "c.2157+56G>A" "Regulatory?" "Unknown" "" "" "0" "" "" "g.44244343G>A" "" "likely pathogenic" "" "0000195632" "0" "77" "11" "44265938" "44265938" "subst" "0" "02210" "EXT2_000003" "g.44265938G>A" "" "" "" "c.2157+101G>A" "Regulatory?" "Unknown" "" "" "0" "" "" "g.44244388G>A" "" "likely pathogenic" "" "0000195633" "0" "77" "11" "44265893" "44265893" "subst" "0" "02210" "EXT2_000002" "g.44265893G>A" "" "" "" "" "Probably polymorphism: reported several times" "Germline" "" "" "0" "" "" "g.44244343G>A" "" "likely pathogenic" "" "0000195634" "0" "77" "11" "44265893" "44265893" "subst" "0" "02210" "EXT2_000002" "g.44265893G>A" "" "" "" "" "Probably polymorphism: reported several times" "Germline" "" "" "0" "" "" "g.44244343G>A" "" "likely pathogenic" "" "0000195635" "0" "77" "11" "44265893" "44265893" "subst" "0" "02210" "EXT2_000002" "g.44265893G>A" "" "" "" "" "Probably polymorphism: reported several times" "Unknown" "" "" "0" "" "" "g.44244343G>A" "" "likely pathogenic" "" "0000195636" "0" "11" "11" "44266708" "44266708" "subst" "0" "02210" "EXT2_000001" "g.44266708G>A" "38" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44245158G>A" "" "benign" "" "0000250161" "0" "10" "11" "44129386" "44129386" "subst" "0.00335519" "02329" "EXT2_000392" "g.44129386A>G" "" "" "" "EXT2(NM_000401.3):c.223A>G (p.M75V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44107836A>G" "" "benign" "" "0000250465" "0" "30" "11" "44148512" "44148512" "subst" "0" "02329" "EXT2_000401" "g.44148512A>T" "" "" "" "EXT2(NM_000401.3):c.1178+7A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44126962A>T" "" "likely benign" "" "0000268935" "0" "10" "11" "44148425" "44148425" "subst" "0.00471917" "02329" "EXT2_000400" "g.44148425T>C" "" "" "" "EXT2(NM_000401.3):c.1098T>C (p.D366=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44126875T>C" "" "benign" "" "0000268936" "0" "10" "11" "44193143" "44193143" "subst" "0.0100836" "02329" "EXT2_000191" "g.44193143G>T" "" "" "" "EXT2(NM_000401.3):c.1273-18G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44171593G>T" "" "benign" "" "0000268937" "0" "30" "11" "44219444" "44219444" "subst" "2.8446E-5" "02329" "EXT2_000402" "g.44219444C>T" "" "" "" "EXT2(NM_000401.3):c.1470C>T (p.T490=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44197894C>T" "" "likely benign" "" "0000268938" "0" "30" "11" "44228435" "44228435" "subst" "0.000609236" "02329" "EXT2_000404" "g.44228435G>A" "" "" "" "EXT2(NM_000401.3):c.1687G>A (p.(Glu563Lys), p.E563K), EXT2(NM_001178083.1):c.1618G>A (p.E540K), EXT2(NM_207122.2):c.1588G>A (p.E530K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44206885G>A" "" "likely benign" "" "0000268939" "0" "30" "11" "44228492" "44228492" "subst" "0.000288402" "02329" "EXT2_000405" "g.44228492C>T" "" "" "" "EXT2(NM_000401.3):c.1744C>T (p.L582=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44206942C>T" "" "likely benign" "" "0000268940" "0" "30" "11" "44253966" "44253966" "subst" "0.000117828" "02329" "EXT2_000215" "g.44253966G>A" "" "" "" "EXT2(NM_000401.3):c.1825G>A (p.E609K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44232416G>A" "" "likely benign" "" "0000268941" "0" "10" "11" "44129781" "44129781" "subst" "0.0063179" "02329" "EXT2_000076" "g.44129781G>C" "" "" "" "EXT2(NM_000401.3):c.618G>C (p.(Ala206=), p.A206=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44108231G>C" "" "benign" "" "0000268942" "0" "10" "11" "44117876" "44117876" "subst" "0.020361" "02329" "EXT2_000017" "g.44117876G>A" "" "" "" "EXT2(NM_000401.3):c.69+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44096326G>A" "" "benign" "" "0000268943" "0" "30" "11" "44146329" "44146329" "subst" "0.000386537" "02329" "EXT2_000397" "g.44146329T>G" "" "" "" "EXT2(NM_000401.3):c.843-10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44124779T>G" "" "likely benign" "" "0000268944" "0" "50" "11" "44146343" "44146343" "subst" "6.09672E-5" "02329" "EXT2_000398" "g.44146343C>T" "" "" "" "EXT2(NM_000401.3):c.847C>T (p.R283W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44124793C>T" "" "VUS" "" "0000276448" "0" "90" "11" "44148382" "44148382" "del" "0" "01943" "EXT2_000399" "g.44148382del" "" "" "" "EXT2(NM_000401.3):c.1055delT (p.V352Gfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44126832del" "" "pathogenic" "" "0000276449" "0" "50" "11" "44219485" "44219485" "subst" "4.46955E-5" "01943" "EXT2_000403" "g.44219485G>A" "" "" "" "EXT2(NM_001178083.1):c.1442G>A (p.R481Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44197935G>A" "" "VUS" "" "0000276450" "0" "50" "11" "44253946" "44253946" "subst" "0" "01943" "EXT2_000406" "g.44253946G>A" "" "" "" "EXT2(NM_001178083.1):c.1736G>A (p.R579H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44232396G>A" "" "VUS" "" "0000276451" "0" "90" "11" "44129644" "44129644" "del" "0" "01943" "EXT2_000393" "g.44129644del" "" "" "" "EXT2(NM_000401.3):c.480delT (p.R161Gfs*142)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44108094del" "" "pathogenic" "" "0000276452" "0" "90" "11" "44129657" "44129658" "del" "0" "01943" "EXT2_000394" "g.44129657_44129658del" "" "" "" "EXT2(NM_000401.3):c.494_495delTG (p.E165Afs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44108107_44108108del" "" "pathogenic" "" "0000322201" "0" "30" "11" "44135818" "44135818" "subst" "0.00272918" "01804" "EXT2_000126" "g.44135818C>T" "" "" "" "EXT2(NM_000401.3):c.809C>T (p.(Ser270Leu), p.S270L), EXT2(NM_001178083.1):c.710C>T (p.S237L), EXT2(NM_207122.1):c.710C>T (p.S237L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44114268C>T" "" "likely benign" "" "0000439975" "0" "90" "11" "44129329" "44129329" "subst" "1.21849E-5" "02515" "EXT2_000027" "g.44129329C>T" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.44107779C>T" "" "pathogenic" "" "0000439976" "0" "90" "11" "44129329" "44129329" "subst" "1.21849E-5" "02515" "EXT2_000027" "g.44129329C>T" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.44107779C>T" "" "pathogenic" "" "0000439977" "0" "90" "11" "44129329" "44129329" "subst" "1.21849E-5" "02515" "EXT2_000027" "g.44129329C>T" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.44107779C>T" "" "pathogenic" "" "0000439978" "0" "90" "11" "44129329" "44129329" "subst" "1.21849E-5" "02515" "EXT2_000027" "g.44129329C>T" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.44107779C>T" "" "pathogenic" "" "0000439979" "0" "90" "11" "44129329" "44129329" "subst" "1.21849E-5" "02515" "EXT2_000027" "g.44129329C>T" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.44107779C>T" "" "pathogenic" "" "0000439980" "0" "90" "11" "44129329" "44129329" "subst" "1.21849E-5" "02515" "EXT2_000027" "g.44129329C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44107779C>T" "" "pathogenic" "" "0000439981" "0" "90" "11" "44129329" "44129329" "subst" "1.21849E-5" "02515" "EXT2_000027" "g.44129329C>T" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.44107779C>T" "" "pathogenic" "" "0000439982" "0" "90" "11" "44129329" "44129329" "subst" "1.21849E-5" "02515" "EXT2_000027" "g.44129329C>T" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.44107779C>T" "" "pathogenic" "" "0000439983" "0" "90" "11" "44129329" "44129329" "subst" "1.21849E-5" "02515" "EXT2_000027" "g.44129329C>T" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.44107779C>T" "" "pathogenic" "" "0000439984" "0" "90" "11" "44129343" "44129343" "del" "0" "02515" "EXT2_000236" "g.44129343del" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.44107793del" "" "pathogenic" "" "0000439985" "0" "90" "11" "44129413" "44129413" "subst" "0" "02515" "EXT2_000038" "g.44129413G>T" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.44107863G>T" "" "pathogenic" "" "0000439986" "0" "90" "11" "44129435" "44129435" "del" "0" "02515" "EXT2_000442" "g.44129435del" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.44107885del" "" "pathogenic" "" "0000439987" "0" "90" "11" "44129506" "44129506" "del" "0" "02515" "EXT2_000318" "g.44129506del" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.44107956del" "" "pathogenic" "" "0000439988" "0" "90" "11" "44129578" "44129578" "del" "0" "02515" "EXT2_000446" "g.44129578del" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.44108028del" "" "pathogenic" "" "0000439989" "0" "90" "11" "44129644" "44129644" "del" "0" "02515" "EXT2_000393" "g.44129644del" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.44108094del" "" "pathogenic" "" "0000439990" "0" "90" "11" "44129652" "44129652" "subst" "0" "02515" "EXT2_000338" "g.44129652T>A" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.44108102T>A" "" "pathogenic" "" "0000439991" "0" "90" "11" "44129652" "44129652" "subst" "0" "02515" "EXT2_000338" "g.44129652T>A" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.44108102T>A" "" "pathogenic" "" "0000439992" "0" "90" "11" "44129652" "44129652" "subst" "0" "02515" "EXT2_000338" "g.44129652T>A" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.44108102T>A" "" "pathogenic" "" "0000439993" "0" "90" "11" "44129710" "44129710" "del" "0" "02515" "EXT2_000443" "g.44129710del" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.44108160del" "" "pathogenic" "" "0000439994" "0" "90" "11" "44129716" "44129719" "del" "0" "02515" "EXT2_000059" "g.44129716_44129719del" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.44108166_44108169del" "" "pathogenic" "" "0000439995" "0" "90" "11" "44130814" "44130814" "del" "0" "02515" "EXT2_000100" "g.44130814del" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.44109264del" "" "pathogenic" "" "0000439996" "0" "90" "11" "44135776" "44135776" "subst" "0" "02515" "EXT2_000114" "g.44135776G>C" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.44114226G>C" "" "pathogenic" "" "0000439997" "0" "90" "11" "44135792" "44135796" "delins" "0" "02515" "EXT2_000439" "g.44135792_44135796delinsTGCC" "" "{PMID:Fusco 2019:3080666}" "" "684_688delins" "" "Germline" "" "" "0" "" "" "g.44114242_44114246delinsTGCC" "" "pathogenic" "" "0000439998" "0" "90" "11" "44135836" "44135836" "del" "0" "02515" "EXT2_000441" "g.44135836del" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.44114286del" "" "pathogenic" "" "0000439999" "0" "90" "11" "44146458" "44146458" "subst" "8.12737E-6" "02515" "EXT2_000008" "g.44146458A>G" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.44124908A>G" "" "pathogenic" "" "0000440000" "0" "90" "11" "44146458" "44146458" "subst" "8.12737E-6" "02515" "EXT2_000008" "g.44146458A>G" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.44124908A>G" "" "pathogenic" "" "0000440001" "0" "90" "11" "44146458" "44146458" "del" "0" "02515" "EXT2_000444" "g.44146458del" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.44124908del" "" "pathogenic" "" "0000440002" "0" "90" "11" "44146478" "44146482" "del" "0" "02515" "EXT2_000440" "g.44146478_44146482del" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.44124928_44124932del" "" "pathogenic" "" "0000440003" "0" "90" "11" "44148417" "44148418" "ins" "0" "02515" "EXT2_000448" "g.44148417_44148418insN[?]" "" "{PMID:Fusco 2019:3080666}" "" "991_992ins" "" "Germline" "" "" "0" "" "" "g.44126867_44126868insN[?]" "" "pathogenic" "" "0000440004" "0" "90" "11" "44148430" "44148430" "del" "0" "02515" "EXT2_000356" "g.44148430del" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.44126880del" "" "pathogenic" "" "0000440005" "0" "90" "11" "44148478" "44148478" "subst" "0" "02515" "EXT2_000445" "g.44148478C>T" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.44126928C>T" "" "pathogenic" "" "0000440006" "0" "90" "11" "44148442" "44148442" "subst" "0" "02515" "EXT2_000346" "g.44148442G>A" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.44126892G>A" "" "pathogenic" "" "0000440007" "0" "90" "11" "44193175" "44193175" "subst" "0" "02515" "EXT2_000194" "g.44193175G>A" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.44171625G>A" "" "pathogenic" "" "0000440008" "0" "90" "11" "44193273" "44193273" "subst" "0" "02515" "EXT2_000316" "g.44193273G>A" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.44171723G>A" "" "pathogenic" "" "0000440009" "0" "90" "11" "44228342" "44228510" "del" "0" "02515" "EXT2_000449" "g.(44219569_44228342)_(44228510_44253902)del" "" "{PMID:Fusco 2019:3080666}" "" "c.(1495+1_1496-1)_(1661+1_1662-1)del" "" "Germline" "" "" "0" "" "" "g.(44198019_44206792)_(44206960_44232352)del" "" "pathogenic" "" "0000440010" "0" "90" "11" "44228342" "44228510" "del" "0" "02515" "EXT2_000449" "g.(44219569_44228342)_(44228510_44253902)del" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.(44198019_44206792)_(44206960_44232352)del" "" "pathogenic" "" "0000440011" "0" "90" "11" "44228342" "44266980" "del" "0" "02515" "EXT2_000447" "g.(44219569_44228342)_(44266980_?)del" "" "{PMID:Fusco 2019:3080666}" "" "c.(1495+1_1495-1)_(*1_?)del" "" "Germline" "" "" "0" "" "" "g.(44198019_44206792)_(44245430_?)del" "" "pathogenic" "" "0000543910" "0" "10" "11" "44117409" "44117409" "subst" "0" "01804" "EXT2_000019" "g.44117409G>T" "" "" "" "EXT2(NM_001178083.1):c.-31+7G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44095859G>T" "" "benign" "" "0000543911" "0" "50" "11" "44117805" "44117805" "subst" "1.51522E-5" "01943" "EXT2_000407" "g.44117805G>A" "" "" "" "EXT2(NM_000401.3):c.3G>A (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44096255G>A" "" "VUS" "" "0000543912" "0" "30" "11" "44117876" "44117876" "subst" "0.020361" "01804" "EXT2_000017" "g.44117876G>A" "" "" "" "EXT2(NM_000401.3):c.69+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44096326G>A" "" "likely benign" "" "0000543913" "0" "30" "11" "44129463" "44129463" "subst" "0.00021945" "01943" "EXT2_000408" "g.44129463G>A" "" "" "" "EXT2(NM_001178083.1):c.201G>A (p.P67=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44107913G>A" "" "likely benign" "" "0000543914" "0" "10" "11" "44129526" "44129526" "subst" "0.00315491" "02329" "EXT2_000409" "g.44129526C>T" "" "" "" "EXT2(NM_000401.3):c.363C>T (p.(His121=), p.H121=), EXT2(NM_207122.1):c.264C>T (p.H88=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44107976C>T" "" "benign" "" "0000543915" "0" "30" "11" "44129666" "44129666" "subst" "0" "01804" "EXT2_000410" "g.44129666T>C" "" "" "" "EXT2(NM_000401.3):c.503T>C (p.(Met168Thr)), EXT2(NM_001178083.1):c.404T>C (p.M135T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44108116T>C" "" "likely benign" "" "0000543916" "0" "30" "11" "44135818" "44135818" "subst" "0.00272918" "01943" "EXT2_000126" "g.44135818C>T" "" "" "" "EXT2(NM_000401.3):c.809C>T (p.(Ser270Leu), p.S270L), EXT2(NM_001178083.1):c.710C>T (p.S237L), EXT2(NM_207122.1):c.710C>T (p.S237L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44114268C>T" "" "likely benign" "" "0000543917" "0" "30" "11" "44135818" "44135818" "subst" "0.00272918" "02329" "EXT2_000126" "g.44135818C>T" "" "" "" "EXT2(NM_000401.3):c.809C>T (p.(Ser270Leu), p.S270L), EXT2(NM_001178083.1):c.710C>T (p.S237L), EXT2(NM_207122.1):c.710C>T (p.S237L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44114268C>T" "" "likely benign" "" "0000543918" "0" "30" "11" "44146333" "44146333" "subst" "5.69383E-5" "01804" "EXT2_000411" "g.44146333T>A" "" "" "" "EXT2(NM_000401.3):c.843-6T>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44124783T>A" "" "likely benign" "" "0000543919" "0" "10" "11" "44146513" "44146513" "subst" "0.00135847" "02329" "EXT2_000412" "g.44146513C>T" "" "" "" "EXT2(NM_000401.3):c.1017C>T (p.(Phe339=), p.F339=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44124963C>T" "" "benign" "" "0000543920" "0" "50" "11" "44151602" "44151602" "subst" "0.000426424" "01943" "EXT2_000413" "g.44151602G>A" "" "" "" "EXT2(NM_001178083.1):c.1087G>A (p.V363M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44130052G>A" "" "VUS" "" "0000543921" "0" "10" "11" "44151625" "44151625" "subst" "0.00129962" "01943" "EXT2_000414" "g.44151625G>T" "" "" "" "EXT2(NM_001178083.1):c.1110G>T (p.M370I), EXT2(NM_207122.1):c.1110G>T (p.M370I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44130075G>T" "" "benign" "" "0000543923" "0" "50" "11" "44228435" "44228435" "subst" "0.000609236" "01943" "EXT2_000404" "g.44228435G>A" "" "" "" "EXT2(NM_000401.3):c.1687G>A (p.(Glu563Lys), p.E563K), EXT2(NM_001178083.1):c.1618G>A (p.E540K), EXT2(NM_207122.2):c.1588G>A (p.E530K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44206885G>A" "" "VUS" "" "0000543924" "0" "30" "11" "44228435" "44228435" "subst" "0.000609236" "01804" "EXT2_000404" "g.44228435G>A" "" "" "" "EXT2(NM_000401.3):c.1687G>A (p.(Glu563Lys), p.E563K), EXT2(NM_001178083.1):c.1618G>A (p.E540K), EXT2(NM_207122.2):c.1588G>A (p.E530K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44206885G>A" "" "likely benign" "" "0000543925" "0" "30" "11" "44255697" "44255697" "subst" "4.06263E-6" "01943" "EXT2_000416" "g.44255697T>A" "" "" "" "EXT2(NM_001178083.1):c.1869T>A (p.P623=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44234147T>A" "" "likely benign" "" "0000613336" "0" "50" "11" "44253921" "44253921" "subst" "5.68699E-5" "01943" "EXT2_000418" "g.44253921G>C" "" "" "" "EXT2(NM_001178083.1):c.1711G>C (p.D571H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44232371G>C" "" "VUS" "" "0000622631" "0" "30" "11" "44193165" "44193165" "subst" "0.00106399" "01943" "EXT2_000417" "g.44193165G>A" "" "" "" "EXT2(NM_207122.1):c.1178G>A (p.R393Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44171615G>A" "" "likely benign" "" "0000648251" "1" "50" "11" "44129546" "44129546" "subst" "0.000117979" "03575" "EXT2_000419" "g.44129546G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs143703574}" "Germline" "" "rs143703574" "0" "" "" "g.44107996G>A" "" "VUS" "" "0000648252" "1" "30" "11" "44146491" "44146491" "subst" "0.000556951" "03575" "EXT2_000143" "g.44146491G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs76901081}" "Germline" "" "rs76901081" "0" "" "" "g.44124941G>A" "" "likely benign" "" "0000648253" "1" "50" "11" "44151602" "44151602" "subst" "0.000426424" "03575" "EXT2_000413" "g.44151602G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs138943091}" "Germline" "" "rs138943091" "0" "" "" "g.44130052G>A" "" "VUS" "" "0000656789" "0" "50" "11" "44129270" "44129270" "subst" "0.000191021" "01943" "EXT2_000420" "g.44129270C>T" "" "" "" "EXT2(NM_001178083.1):c.8C>T (p.A3V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44107720C>T" "" "VUS" "" "0000656790" "0" "50" "11" "44129771" "44129771" "subst" "6.54081E-5" "01943" "EXT2_000421" "g.44129771C>T" "" "" "" "EXT2(NM_001178083.1):c.509C>T (p.T170I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44108221C>T" "" "VUS" "" "0000656791" "0" "30" "11" "44129782" "44129782" "subst" "6.55716E-5" "01943" "EXT2_000422" "g.44129782A>T" "" "" "" "EXT2(NM_001178083.1):c.520A>T (p.M174L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44108232A>T" "" "likely benign" "" "0000656792" "0" "30" "11" "44146438" "44146438" "subst" "8.12612E-5" "01943" "EXT2_000423" "g.44146438A>G" "" "" "" "EXT2(NM_001178083.1):c.843A>G (p.L281=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44124888A>G" "" "likely benign" "" "0000660658" "0" "90" "11" "44193160" "44228510" "del" "0" "01741" "EXT2_000424" "g.(44151689_44193160)_(44228510_44253902)del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "" "0000679187" "0" "30" "11" "44219576" "44219576" "subst" "0" "01943" "EXT2_000425" "g.44219576G>A" "" "" "" "EXT2(NM_001178083.1):c.1525+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682777" "11" "90" "11" "44129788" "44129788" "subst" "0" "00006" "EXT2_000342" "g.44129788C>T" "" "{PMID:Chen 2020:32678989}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000682778" "0" "10" "11" "44129290" "44129290" "subst" "0.0345742" "00006" "EXT2_000025" "g.44129290C>A" "" "{PMID:Chen 2020:32678989}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000682782" "11" "90" "11" "44130768" "44130768" "del" "0" "00006" "EXT2_000096" "g.44130768del" "" "{PMID:Cao 2018:30250583}" "" "660delG" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000682783" "11" "90" "11" "44129329" "44129329" "subst" "1.21849E-5" "00006" "EXT2_000027" "g.44129329C>T" "" "{PMID:Ruan 2018:29541207}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000691061" "0" "50" "11" "44129545" "44129545" "subst" "4.88146E-5" "01804" "EXT2_000426" "g.44129545C>T" "" "" "" "EXT2(NM_000401.3):c.382C>T (p.(Arg128Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691062" "0" "30" "11" "44193181" "44193181" "subst" "2.03059E-5" "01943" "EXT2_000427" "g.44193181G>A" "" "" "" "EXT2(NM_207122.1):c.1194G>A (p.A398=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723447" "0" "90" "11" "44146506" "44146509" "dup" "0" "02329" "EXT2_000428" "g.44146506_44146509dup" "" "" "" "EXT2(NM_001178083.3):c.911_914dupAGGT (p.F306Gfs*50)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000723448" "0" "90" "11" "44228342" "44228342" "subst" "4.06217E-6" "01943" "EXT2_000429" "g.44228342G>T" "" "" "" "EXT2(NM_001178083.1):c.1526-1G>T, EXT2(NM_207122.2):c.1496-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000731299" "0" "50" "11" "44257802" "44257802" "subst" "0.318235" "00006" "EXT2_000430" "g.44257802T>C" "" "{PMID:Tong 2021:33596140}" "" "" "" "Germline" "" "rs3740878" "0" "" "" "" "" "likely benign" "" "0000791289" "11" "90" "11" "44130835" "44130838" "del" "0" "00006" "EXT2_000432" "g.44130835_44130838del" "" "{PMID:Guo 2021:34280007}" "" "626+2_626+5delTAGG" "effect on splicing predicted from mini-gene expression analysis" "Germline" "yes" "" "0" "" "" "g.44109285_44109288del" "" "pathogenic (dominant)" "" "0000791290" "11" "30" "11" "44129290" "44129290" "subst" "0.0345742" "00006" "EXT2_000025" "g.44129290C>A" "" "{PMID:Guo 2021:34280007}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000791291" "11" "30" "11" "44151577" "44151577" "subst" "0.343558" "00006" "EXT2_000162" "g.44151577T>A" "" "{PMID:Guo 2021:34280007}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000791292" "11" "30" "11" "44255614" "44255614" "subst" "0" "00006" "EXT2_000296" "g.44255614T>C" "" "{PMID:Guo 2021:34280007}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000794974" "3" "50" "11" "44146365" "44146365" "subst" "0" "00000" "EXT2_000433" "g.44146365C>G" "" "{PMID:Abu-Safieh-2013:23105016}" "" "NM_001178083:c.C770G (p.Ser257Cys)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000795619" "3" "70" "11" "44129273" "44129273" "subst" "6.90821E-5" "00000" "EXT2_000434" "g.44129273C>T" "" "{PMID:Nair 2018:30293248}" "" "NM_000401.3:c.110C>T; p.Ser37Leu" "" "Germline" "?" "rs527624522" "0" "" "" "g.44107723C>T" "" "likely pathogenic" "" "0000805123" "0" "50" "11" "44129522" "44129522" "subst" "0.000369973" "02327" "EXT2_000435" "g.44129522T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805124" "0" "50" "11" "44129687" "44129687" "subst" "4.06395E-6" "01943" "EXT2_000436" "g.44129687A>T" "" "" "" "EXT2(NM_001178083.1):c.425A>T (p.Y142F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852901" "0" "50" "11" "44146524" "44146524" "subst" "8.14147E-6" "01804" "EXT2_000438" "g.44146524A>T" "" "" "" "EXT2(NM_000401.3):c.1028A>T (p.(Gln343Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862530" "0" "50" "11" "44129494" "44129494" "subst" "2.84483E-5" "01804" "EXT2_000437" "g.44129494C>G" "" "" "" "EXT2(NM_000401.3):c.331C>G (p.(Pro111Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862531" "0" "30" "11" "44129666" "44129666" "subst" "0" "01943" "EXT2_000410" "g.44129666T>C" "" "" "" "EXT2(NM_000401.3):c.503T>C (p.(Met168Thr)), EXT2(NM_001178083.1):c.404T>C (p.M135T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000880448" "1" "90" "11" "44228342" "44266980" "del" "0" "00006" "EXT2_000447" "g.(44219569_44228342)_(44266980_?)del" "" "{PMID:Fusco 2019:3080666}" "" "c.(1495+1_1495-1)_(*1_?)del" "" "Germline" "" "" "0" "" "" "g.(44198019_44206792)_(44245430_?)del" "" "pathogenic" "" "0000880449" "1" "90" "11" "44228342" "44266980" "del" "0" "00006" "EXT2_000447" "g.(44219569_44228342)_(44266980_?)del" "" "{PMID:Fusco 2019:3080666}" "" "c.(1495+1_1495-1)_(*1_?)del" "" "Germline" "" "" "0" "" "" "g.(44198019_44206792)_(44245430_?)del" "" "pathogenic" "" "0000880450" "1" "90" "11" "44228342" "44266980" "del" "0" "00006" "EXT2_000447" "g.(44219569_44228342)_(44266980_?)del" "" "{PMID:Fusco 2019:3080666}" "" "c.(1495+1_1495-1)_(*1_?)del" "" "Germline" "" "" "0" "" "" "g.(44198019_44206792)_(44245430_?)del" "" "pathogenic" "" "0000889828" "0" "90" "11" "44253980" "44253980" "subst" "0" "02327" "EXT2_000450" "g.44253980G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000889829" "0" "50" "11" "44254000" "44254000" "subst" "0.000699193" "02325" "EXT2_000295" "g.44254000C>T" "" "" "" "EXT2(NM_207122.1):c.1760C>T (p.(Thr587Met)), EXT2(NM_207122.2):c.1760C>T (p.T587M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913577" "0" "10" "11" "44135818" "44135818" "subst" "0.00272918" "02326" "EXT2_000126" "g.44135818C>T" "" "" "" "EXT2(NM_000401.3):c.809C>T (p.(Ser270Leu), p.S270L), EXT2(NM_001178083.1):c.710C>T (p.S237L), EXT2(NM_207122.1):c.710C>T (p.S237L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913578" "0" "30" "11" "44165889" "44165889" "subst" "0.000177354" "01804" "EXT2_000451" "g.44165889G>A" "" "" "" "EXT2(NM_001178083.1):c.1266G>A (p.(Gln422=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925384" "0" "50" "11" "44228435" "44228435" "subst" "0.000609236" "02325" "EXT2_000404" "g.44228435G>A" "" "" "" "EXT2(NM_000401.3):c.1687G>A (p.(Glu563Lys), p.E563K), EXT2(NM_001178083.1):c.1618G>A (p.E540K), EXT2(NM_207122.2):c.1588G>A (p.E530K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927664" "0" "90" "11" "44129386" "44129386" "del" "0" "03779" "EXT2_000237" "g.44129386del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000929864" "0" "50" "11" "44129545" "44129545" "subst" "4.88146E-5" "02327" "EXT2_000426" "g.44129545C>T" "" "" "" "EXT2(NM_000401.3):c.382C>T (p.(Arg128Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949656" "0" "30" "11" "44129526" "44129526" "subst" "0.00315491" "01804" "EXT2_000409" "g.44129526C>T" "" "" "" "EXT2(NM_000401.3):c.363C>T (p.(His121=), p.H121=), EXT2(NM_207122.1):c.264C>T (p.H88=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949657" "0" "30" "11" "44129781" "44129781" "subst" "0.0063179" "01804" "EXT2_000076" "g.44129781G>C" "" "" "" "EXT2(NM_000401.3):c.618G>C (p.(Ala206=), p.A206=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949658" "0" "90" "11" "44135767" "44135767" "subst" "0" "01804" "EXT2_000109" "g.44135767G>A" "" "" "" "EXT2(NM_207122.1):c.659G>A (p.(Trp220Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000949659" "0" "30" "11" "44146455" "44146455" "subst" "4.06352E-6" "01804" "EXT2_000452" "g.44146455C>A" "" "" "" "EXT2(NM_000401.3):c.959C>A (p.(Thr320Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949660" "0" "30" "11" "44146513" "44146513" "subst" "0.00135847" "01804" "EXT2_000412" "g.44146513C>T" "" "" "" "EXT2(NM_000401.3):c.1017C>T (p.(Phe339=), p.F339=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949661" "0" "50" "11" "44146514" "44146514" "subst" "6.10173E-5" "01804" "EXT2_000226" "g.44146514G>A" "" "" "" "EXT2(NM_000401.3):c.1018G>A (p.(Asp340Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949662" "0" "90" "11" "44146535" "44146535" "subst" "0" "01804" "EXT2_000453" "g.44146535G>C" "" "" "" "EXT2(NM_207122.1):c.939+1G>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000949663" "0" "30" "11" "44228529" "44228529" "subst" "4.06802E-6" "02329" "EXT2_000454" "g.44228529T>C" "" "" "" "EXT2(NM_000401.3):c.1761+20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966361" "0" "10" "11" "44129526" "44129526" "subst" "0.00315491" "02326" "EXT2_000409" "g.44129526C>T" "" "" "" "EXT2(NM_000401.3):c.363C>T (p.(His121=), p.H121=), EXT2(NM_207122.1):c.264C>T (p.H88=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000966362" "0" "30" "11" "44129782" "44129782" "subst" "0.000319662" "01804" "EXT2_000080" "g.44129782A>C" "" "" "" "EXT2(NM_000401.3):c.619A>C (p.(Met207Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966363" "0" "50" "11" "44148448" "44148448" "subst" "0.000276165" "02329" "EXT2_000455" "g.44148448C>T" "" "" "" "EXT2(NM_000401.3):c.1121C>T (p.P374L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966364" "0" "10" "11" "44151625" "44151625" "subst" "0.00129962" "02326" "EXT2_000414" "g.44151625G>T" "" "" "" "EXT2(NM_001178083.1):c.1110G>T (p.M370I), EXT2(NM_207122.1):c.1110G>T (p.M370I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000972237" "0" "90" "11" "44129604" "44129604" "subst" "0" "03779" "EXT2_000054" "g.44129604C>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs763623546" "0" "" "" "" "" "pathogenic" "" "0000972273" "0" "90" "11" "44135836" "44135836" "del" "0" "03779" "EXT2_000441" "g.44135836del" "" "" "" "" "" "CLASSIFICATION record" "" "rs2134985434" "0" "" "" "" "" "pathogenic" "" "0000979570" "0" "50" "11" "44129546" "44129546" "subst" "0.000117979" "01804" "EXT2_000419" "g.44129546G>A" "" "" "" "EXT2(NM_207122.2):c.284G>A (p.(Arg95His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979571" "0" "90" "11" "44129721" "44129724" "del" "0" "01804" "EXT2_000064" "g.44129721_44129724del" "" "" "" "EXT2(NM_207122.1):c.459_462del (p.(Val154ProfsTer115))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000979572" "0" "50" "11" "44135742" "44135742" "subst" "0" "01804" "EXT2_000456" "g.44135742T>A" "" "" "" "EXT2(NM_207122.2):c.634T>A (p.(Leu212Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979573" "0" "90" "11" "44146337" "44146337" "subst" "0" "01804" "EXT2_000325" "g.44146337A>C" "" "" "" "EXT2(NM_207122.1):c.744-2A>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000979574" "0" "30" "11" "44254055" "44254055" "del" "0" "01804" "EXT2_000457" "g.44254055del" "" "" "" "EXT2(NM_207122.2):c.1806+9del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979575" "0" "50" "11" "44255774" "44255774" "subst" "6.91315E-5" "01804" "EXT2_000458" "g.44255774C>T" "" "" "" "EXT2(NM_000401.3):c.2015C>T (p.(Thr672Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000989379" "21" "70" "11" "44146346" "44146346" "subst" "0" "04449" "EXT2_000131" "g.44146346C>T" "18/48 patients patients" "-" "-" "-" "The variant has been assessed by the VEP tool on 05 August 2024" "Germline" "yes" "" "0" "-" "-" "g.44124796C>T" "" "likely pathogenic (dominant)" "ACMG" "0000989380" "21" "70" "11" "44146346" "44146346" "subst" "0" "04449" "EXT2_000131" "g.44146346C>T" "18/48 patients patients" "-" "-" "" "The variant has been assessed by the VEP tool on 05 August 2024" "Germline" "yes" "" "0" "-" "-" "g.44124796C>T" "" "likely pathogenic (dominant)" "ACMG" "0000989381" "0" "70" "11" "44146346" "44146346" "subst" "0" "04449" "EXT2_000131" "g.44146346C>T" "18/48 patients patients" "-" "-" "-" "The variant has been assessed by the VEP tool on 05 August 2024" "Germline" "?" "" "0" "-" "-" "g.44124796C>T" "" "likely pathogenic (dominant)" "ACMG" "0000989395" "0" "90" "11" "44129572" "44129572" "del" "0" "04449" "EXT2_000459" "g.44129572del" "17/48 patients patients" "10.2991/ahsr.k.220103.050" "-" "c.409delA" "The variant has been assessed by the VEP tool on 06 August 2024. Coordinate с.409delA corresponds to ENST00000395673 transcript." "Germline" "?" "" "0" "-" "-" "g.44108022del" "" "pathogenic (dominant)" "ACMG" "0000989400" "0" "90" "11" "44129572" "44129572" "del" "0" "04449" "EXT2_000459" "g.44129572del" "17/48 patients patients" "10.2991/ahsr.k.220103.050" "-" "c.409delA" "The variant has been assessed by the VEP tool on 06 August 2024. Coordinate с.409delA corresponds to ENST00000395673 transcript." "Germline" "?" "" "0" "-" "-" "g.44108022del" "" "pathogenic (dominant)" "ACMG" "0000989401" "0" "90" "11" "44129572" "44129572" "del" "0" "04449" "EXT2_000459" "g.44129572del" "17/48 patients patients" "10.2991/ahsr.k.220103.050" "-" "c.409delA" "The variant has been assessed by the VEP tool on 06 August 2024. Coordinate с.409delA corresponds to ENST00000395673 transcript." "Germline" "?" "" "0" "-" "-" "g.44108022del" "" "pathogenic (dominant)" "ACMG" "0000989402" "11" "90" "11" "44129572" "44129572" "del" "0" "04449" "EXT2_000459" "g.44129572del" "17/48 patients patients" "10.2991/ahsr.k.220103.050" "-" "c.409delA" "The variant has been assessed by the VEP tool on 06 August 2024. Coordinate с.409delA corresponds to ENST00000395673 transcript." "Germline" "yes" "" "0" "-" "-" "g.44108022del" "" "pathogenic (dominant)" "ACMG" "0000989411" "0" "90" "11" "44129572" "44129572" "del" "0" "04449" "EXT2_000459" "g.44129572del" "17/48 patients patients" "10.2991/ahsr.k.220103.050" "-" "c.409delA" "The variant has been assessed by the VEP tool on 06 August 2024. Coordinate с.409delA corresponds to ENST00000395673 transcript." "Germline" "?" "" "0" "-" "-" "g.44108022del" "" "pathogenic (dominant)" "ACMG" "0000989413" "11" "70" "11" "44146346" "44146346" "subst" "0" "04449" "EXT2_000131" "g.44146346C>T" "18/48 patients patients" "-" "-" "-" "The variant has been assessed by the VEP tool on 05 August 2024" "Germline" "yes" "" "0" "-" "-" "g.44124796C>T" "" "likely pathogenic (dominant)" "ACMG" "0000989415" "0" "70" "11" "44146346" "44146346" "subst" "0" "04449" "EXT2_000131" "g.44146346C>T" "18/48 patients patients" "-" "-" "-" "The variant has been assessed by the VEP tool on 05 August 2024" "Germline" "?" "" "0" "-" "-" "g.44124796C>T" "" "likely pathogenic (dominant)" "ACMG" "0000989416" "21" "70" "11" "44146346" "44146346" "subst" "0" "04449" "EXT2_000131" "g.44146346C>T" "18/48 patients patients" "-" "-" "-" "The variant has been assessed by the VEP tool on 05 August 2024" "Germline" "yes" "" "0" "-" "-" "g.44124796C>T" "" "likely pathogenic (dominant)" "ACMG" "0000989417" "0" "70" "11" "44146346" "44146346" "subst" "0" "04449" "EXT2_000131" "g.44146346C>T" "18/48 patients patients" "-" "-" "-" "The variant has been assessed by the VEP tool on 05 August 2024" "Germline" "?" "" "0" "-" "-" "g.44124796C>T" "" "likely pathogenic (dominant)" "ACMG" "0000989419" "0" "70" "11" "44146346" "44146346" "subst" "0" "04449" "EXT2_000131" "g.44146346C>T" "18/48 patients patients" "" "-" "-" "The variant has been assessed by the VEP tool on 05 August 2024" "Germline" "?" "" "0" "-" "-" "g.44124796C>T" "" "likely pathogenic (dominant)" "ACMG" "0000989420" "21" "70" "11" "44146346" "44146346" "subst" "0" "04449" "EXT2_000131" "g.44146346C>T" "18/48 patients patients" "-" "-" "-" "The variant has been assessed by the VEP tool on 05 August 2024" "Germline" "yes" "" "0" "-" "-" "g.44124796C>T" "" "likely pathogenic (dominant)" "ACMG" "0000989421" "21" "70" "11" "44146346" "44146346" "subst" "0" "04449" "EXT2_000131" "g.44146346C>T" "18/48 patients patients" "-" "-" "-" "The variant has been assessed by the VEP tool on 05 August 2024" "Germline" "yes" "" "0" "-" "-" "g.44124796C>T" "" "likely pathogenic (dominant)" "ACMG" "0000989423" "0" "70" "11" "44146346" "44146346" "subst" "0" "04449" "EXT2_000131" "g.44146346C>T" "18/48 patients patients" "-" "-" "-" "The variant has been assessed by the VEP tool on 05 August 2024" "Germline" "?" "" "0" "-" "-" "g.44124796C>T" "" "likely pathogenic (dominant)" "ACMG" "0000989424" "11" "70" "11" "44146346" "44146346" "subst" "0" "04449" "EXT2_000131" "g.44146346C>T" "18/48 patients patients" "-" "-" "-" "The variant has been assessed by the VEP tool on 05 August 2024" "Germline" "yes" "" "0" "-" "-" "g.44124796C>T" "" "likely pathogenic (dominant)" "ACMG" "0000989425" "0" "70" "11" "44146346" "44146346" "subst" "0" "04449" "EXT2_000131" "g.44146346C>T" "18/48 patients patients" "-" "-" "-" "The variant has been assessed by the VEP tool on 05 August 2024" "Germline" "?" "" "0" "-" "-" "g.44124796C>T" "" "likely pathogenic (dominant)" "ACMG" "0000989426" "0" "70" "11" "44146346" "44146346" "subst" "0" "04449" "EXT2_000131" "g.44146346C>T" "18/48 patients patients" "-" "-" "-" "The variant has been assessed by the VEP tool on 05 August 2024" "Germline" "?" "" "0" "-" "-" "g.44124796C>T" "" "likely pathogenic (dominant)" "ACMG" "0000989427" "0" "70" "11" "44146346" "44146346" "subst" "0" "04449" "EXT2_000131" "g.44146346C>T" "18/48 patients patients" "-" "-" "-" "The variant has been assessed by the VEP tool on 05 August 2024" "Germline" "?" "" "0" "-" "-" "g.44124796C>T" "" "likely pathogenic (dominant)" "ACMG" "0000989428" "0" "70" "11" "44146346" "44146346" "subst" "0" "04449" "EXT2_000131" "g.44146346C>T" "18/48 patients patients" "-" "-" "-" "The variant has been assessed by the VEP tool on 05 August 2024" "Germline" "?" "" "0" "-" "-" "g.44124796C>T" "" "likely pathogenic (dominant)" "ACMG" "0000989436" "0" "90" "11" "44129572" "44129572" "del" "0" "04449" "EXT2_000459" "g.44129572del" "17/48 patients patients" "10.2991/ahsr.k.220103.050" "-" "c.409delA" "The variant has been assessed by the VEP tool on 06 August 2024. Coordinate с.409delA corresponds to ENST00000395673 transcript." "Germline" "?" "" "0" "-" "-" "g.44108022del" "" "pathogenic (dominant)" "ACMG" "0000989441" "0" "90" "11" "44129572" "44129572" "del" "0" "04449" "EXT2_000459" "g.44129572del" "17/48 patients patients" "10.2991/ahsr.k.220103.050" "-" "c.409delA" "The variant has been assessed by the VEP tool on 06 August 2024. Coordinate с.409delA corresponds to ENST00000395673 transcript." "Germline" "?" "" "0" "-" "-" "g.44108022del" "" "pathogenic (dominant)" "ACMG" "0000989442" "21" "90" "11" "44129572" "44129572" "del" "0" "04449" "EXT2_000459" "g.44129572del" "17/48 patients patients" "10.2991/ahsr.k.220103.050" "-" "c.409delA" "The variant has been assessed by the VEP tool on 06 August 2024. Coordinate с.409delA corresponds to ENST00000395673 transcript." "Germline" "yes" "" "0" "-" "-" "g.44108022del" "" "pathogenic (dominant)" "ACMG" "0000989443" "0" "90" "11" "44129572" "44129572" "del" "0" "04449" "EXT2_000459" "g.44129572del" "17/48 patients patients" "10.2991/ahsr.k.220103.050" "-" "c.409delA" "The variant has been assessed by the VEP tool on 06 August 2024. Coordinate с.409delA corresponds to ENST00000395673 transcript." "Germline" "?" "" "0" "-" "-" "g.44108022del" "" "pathogenic (dominant)" "ACMG" "0000989451" "0" "90" "11" "44129572" "44129572" "del" "0" "04449" "EXT2_000459" "g.44129572del" "17/48 patients patients" "10.2991/ahsr.k.220103.050" "-" "c.409delA" "The variant has been assessed by the VEP tool on 06 August 2024. Coordinate с.409delA corresponds to ENST00000395673 transcript." "Germline" "?" "" "0" "-" "-" "g.44108022del" "" "pathogenic (dominant)" "ACMG" "0000989452" "0" "90" "11" "44129572" "44129572" "del" "0" "04449" "EXT2_000459" "g.44129572del" "17/48 patients patients" "10.2991/ahsr.k.220103.050" "-" "c.409delA" "The variant has been assessed by the VEP tool on 06 August 2024. Coordinate с.409delA corresponds to ENST00000395673 transcript." "Germline" "?" "" "0" "-" "-" "g.44108022del" "" "pathogenic (dominant)" "ACMG" "0000989453" "0" "90" "11" "44129572" "44129572" "del" "0" "04449" "EXT2_000459" "g.44129572del" "17/48 patients patients" "10.2991/ahsr.k.220103.050" "-" "c.409delA" "The variant has been assessed by the VEP tool on 06 August 2024. Coordinate с.409delA corresponds to ENST00000395673 transcript." "Germline" "?" "" "0" "-" "-" "g.44108022del" "" "pathogenic (dominant)" "ACMG" "0000989454" "0" "90" "11" "44129572" "44129572" "del" "0" "04449" "EXT2_000459" "g.44129572del" "17/48 patients patients" "10.2991/ahsr.k.220103.050" "-" "c.409delA" "The variant has been assessed by the VEP tool on 06 August 2024. Coordinate с.409delA corresponds to ENST00000395673 transcript." "Germline" "?" "" "0" "-" "-" "g.44108022del" "" "pathogenic (dominant)" "ACMG" "0000989455" "0" "90" "11" "44129572" "44129572" "del" "0" "04449" "EXT2_000459" "g.44129572del" "17/48 patients patients" "10.2991/ahsr.k.220103.050" "-" "c.409delA" "The variant has been assessed by the VEP tool on 06 August 2024. Coordinate с.409delA corresponds to ENST00000395673 transcript." "Germline" "?" "" "0" "-" "-" "g.44108022del" "" "pathogenic (dominant)" "ACMG" "0000989456" "0" "70" "11" "44146346" "44146346" "subst" "0" "04449" "EXT2_000131" "g.44146346C>T" "18/48 patients patients" "-" "-" "-" "The variant has been assessed by the VEP tool on 05 August 2024" "Germline" "?" "" "0" "-" "-" "g.44124796C>T" "" "likely pathogenic (dominant)" "ACMG" "0000989457" "21" "70" "11" "44146346" "44146346" "subst" "0" "04449" "EXT2_000131" "g.44146346C>T" "18/48 patients patients" "-" "-" "-" "The variant has been assessed by the VEP tool on 05 August 2024" "Germline" "yes" "" "0" "-" "-" "g.44124796C>T" "" "likely pathogenic (dominant)" "ACMG" "0000989458" "0" "90" "11" "44129572" "44129572" "del" "0" "04449" "EXT2_000459" "g.44129572del" "17/48 patients patients" "10.2991/ahsr.k.220103.050" "-" "c.409delA" "The variant has been assessed by the VEP tool on 06 August 2024. Coordinate с.409delA corresponds to ENST00000395673 transcript." "Germline" "?" "" "0" "-" "-" "g.44108022del" "" "pathogenic (dominant)" "ACMG" "0000989459" "0" "70" "11" "44129572" "44129572" "del" "0" "04449" "EXT2_000459" "g.44129572del" "17/48 patients patients" "10.2991/ahsr.k.220103.050" "-" "c.409delA" "The variant has been assessed by the VEP tool on 06 August 2024. Coordinate с.409delA corresponds to ENST00000395673 transcript." "Germline" "?" "" "0" "-" "-" "g.44108022del" "" "likely pathogenic (dominant)" "ACMG" "0000989996" "0" "70" "11" "44129572" "44129572" "del" "0" "04740" "EXT2_000459" "g.44129572del" "17/48 cases" "{DOI:Yakovleva 2022:10.2991/ahsr.k.220103.050}" "-" "ENST00000395673:c.409delA" "The variant has been assessed by the VEP tool on 06 August 2024" "Germline" "?" "" "0" "-" "" "g.44108022del" "-" "likely pathogenic (dominant)" "ACMG" "0000999026" "0" "50" "11" "44129273" "44129273" "subst" "6.90821E-5" "01804" "EXT2_000434" "g.44129273C>T" "" "" "" "EXT2(NM_207122.1):c.11C>T (p.(Ser4Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999027" "0" "90" "11" "44129462" "44129462" "dup" "0" "01804" "EXT2_000042" "g.44129462dup" "" "" "" "EXT2(NM_207122.1):c.200dup (p.(Val68GlyfsTer3))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000999028" "0" "30" "11" "44129644" "44129644" "subst" "0.000341278" "01804" "EXT2_000056" "g.44129644C>T" "" "" "" "EXT2(NM_207122.1):c.382C>T (p.(Arg128Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999029" "0" "30" "11" "44165865" "44165865" "subst" "6.17213E-5" "01804" "EXT2_000460" "g.44165865G>A" "" "" "" "EXT2(NM_001178083.1):c.1242G>A (p.(Trp414*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999030" "0" "30" "11" "44193221" "44193221" "subst" "4.06161E-6" "01804" "EXT2_000461" "g.44193221C>G" "" "" "" "EXT2(NM_207122.1):c.1234C>G (p.(Gln412Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999031" "0" "30" "11" "44219356" "44219356" "subst" "0.000705092" "02329" "EXT2_000462" "g.44219356C>T" "" "" "" "EXT2(NM_000401.3):c.1405-23C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999032" "0" "50" "11" "44254000" "44254000" "subst" "0.000699193" "01804" "EXT2_000295" "g.44254000C>T" "" "" "" "EXT2(NM_207122.1):c.1760C>T (p.(Thr587Met)), EXT2(NM_207122.2):c.1760C>T (p.T587M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001008397" "0" "50" "11" "44129759" "44129759" "subst" "4.08217E-5" "03779" "EXT2_000463" "g.44129759G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs772821141" "0" "" "" "" "" "VUS" "" "0001014793" "0" "30" "11" "44129724" "44129724" "subst" "0" "02329" "EXT2_000464" "g.44129724T>A" "" "" "" "EXT2(NM_000401.3):c.561T>A (p.V187=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025973" "0" "90" "11" "44151593" "44151593" "subst" "0" "01804" "EXT2_000163" "g.44151593A>G" "" "" "" "EXT2(NM_207122.1):c.1080-2A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001025974" "0" "50" "11" "44228342" "44228342" "subst" "4.06217E-6" "02325" "EXT2_000429" "g.44228342G>T" "" "" "" "EXT2(NM_001178083.1):c.1526-1G>T, EXT2(NM_207122.2):c.1496-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038448" "0" "90" "11" "44129329" "44129329" "subst" "1.21849E-5" "01804" "EXT2_000027" "g.44129329C>T" "" "" "" "EXT2(NM_207122.1):c.67C>T (p.(Arg23Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001038449" "0" "50" "11" "44129642" "44129642" "subst" "0" "01804" "EXT2_000465" "g.44129642C>G" "" "" "" "EXT2(NM_207122.2):c.380C>G (p.(Ser127Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038450" "0" "50" "11" "44129645" "44129645" "subst" "1.62517E-5" "01804" "EXT2_000466" "g.44129645G>A" "" "" "" "EXT2(NM_207122.2):c.383G>A (p.(Arg128Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038451" "0" "50" "11" "44146355" "44146355" "subst" "4.87607E-5" "01804" "EXT2_000467" "g.44146355C>T" "" "" "" "EXT2(NM_207122.2):c.760C>T (p.(Leu254Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038452" "0" "50" "11" "44148505" "44148505" "subst" "0" "01804" "EXT2_000391" "g.44148505G>A" "" "" "" "EXT2(NM_207122.2):c.1079G>A (p.(Arg360Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038453" "0" "30" "11" "44257920" "44257920" "subst" "0.000166938" "01804" "EXT2_000468" "g.44257920G>A" "" "" "" "EXT2(NM_207122.2):c.2013G>A (p.(Val671=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046309" "0" "90" "11" "44146523" "44146523" "subst" "0" "01804" "EXT2_000469" "g.44146523C>T" "" "" "" "EXT2(NM_207122.1):c.928C>T (p.(Gln310Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001046310" "0" "50" "11" "44257852" "44257852" "subst" "4.07014E-5" "02327" "EXT2_000329" "g.44257852C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001048189" "0" "50" "11" "44265714" "44265714" "subst" "" "00006" "chr11_008602" "g.44265714C>G" "" "{PMID:Plachy 2019:30753492}" "" "2034G>C (Lys748Asn)" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.44244164C>G" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes EXT2 ## Count = 575 "{{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}}" "0000163511" "00025230" "10" "1079" "0" "1079" "0" "c.1079G>A" "r.(?)" "p.(Arg360Lys)" "" "0000195249" "00025230" "11" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "_1_14_" "0000195250" "00025230" "77" "-334" "0" "3300" "0" "c.-334_*1143{0}" "r.spl?" "p.(?)" "_1_14_" "0000195251" "00025230" "77" "-334" "0" "3300" "0" "c.-334_*1143{0}" "r.spl?" "p.(?)" "_1_14_" "0000195252" "00025230" "77" "-334" "0" "3300" "0" "c.-334_*1143{0}" "r.spl?" "p.(?)" "_1_14_" "0000195253" "00025230" "77" "-334" "0" "3300" "0" "c.-334_*1143{0}" "r.spl?" "p.(?)" "_1_14_" "0000195254" "00025230" "77" "0" "0" "0" "0" "c.-334_(1662+1_1663-1){0}" "r.0?" "p.0?" "1_10i" "0000195255" "00025230" "77" "-30" "-1" "1305" "1" "c.(-31+1_-30-1)_(1305+1_1306-1)del" "r.spl?" "p.?" "1i_8i" "0000195256" "00025230" "77" "-30" "-1" "536" "1" "c.(-31+1_-30-1)_(536+1_537-1)del" "r.spl?" "p.?" "1i_2i" "0000195257" "00025230" "77" "1174" "-1" "1305" "1" "c.(1174-1)_(1305+1)del" "r.spl?" "p.(?)" "7i_8i" "0000195258" "00025230" "77" "1174" "-1" "1305" "1" "c.(1174-1)_(1305+1)del" "r.spl?" "p.(?)" "7i_8i" "0000195259" "00025230" "77" "1174" "-1" "1305" "1" "c.(1174-1)_(1305+1)del" "r.spl?" "p.(?)" "7i_8i" "0000195260" "00025230" "11" "-484" "0" "-484" "0" "c.-484T>C" "r.(=)" "p.(=)" "1" "0000195261" "00025230" "11" "-311" "0" "-311" "0" "c.-311G>A" "r.(=)" "p.(=)" "1" "0000195262" "00025230" "11" "-214" "0" "-214" "0" "c.-214C>G" "r.(=)" "p.(=)" "1" "0000195263" "00025230" "11" "-31" "7" "-31" "7" "c.-31+7G>T" "r.(=)" "p.(=)" "1i" "0000195264" "00025230" "11" "-31" "22" "-31" "22" "c.-31+22G>A" "r.(=)" "p.(=)" "1i" "0000195265" "00025230" "11" "-31" "42" "-31" "42" "c.-31+42A>G" "r.(=)" "p.(=)" "1i" "0000195266" "00025230" "11" "-31" "474" "-31" "474" "c.-31+474G>A" "r.(=)" "p.(=)" "1i" "0000195267" "00025230" "11" "-31" "496" "-31" "496" "c.-31+496T>G" "r.(=)" "p.(=)" "1i" "0000195268" "00025230" "11" "-31" "54" "-31" "54" "c.-31+54G>T" "r.(=)" "p.(=)" "1i" "0000195269" "00025230" "77" "-30" "-10" "441" "0" "c.-30-10_441del" "r.spl?" "p.?" "1i_2" "0000195270" "00025230" "77" "-334" "0" "3300" "0" "c.-334_*1143{0}" "r.spl?" "p.(?)" "_1_14_" "0000195271" "00025230" "77" "744" "-1" "939" "1" "c.(744-1)_(939+1)del" "r.spl?" "p.(?)" "4i_5i" "0000195272" "00025230" "77" "1174" "-1" "1305" "1" "c.(1174-1)_(1305+1)del" "r.spl?" "p.(?)" "7i_8i" "0000195273" "00025230" "55" "-28" "0" "-28" "0" "c.-28G>A" "r.(=)" "p.(=)" "2" "0000195274" "00025230" "11" "28" "0" "28" "0" "c.28C>A" "r.(=)" "p.(=)" "2" "0000195275" "00025230" "77" "63" "0" "63" "0" "c.63del" "r.(?)" "p.(Lys21Asnfs*38)" "2" "0000195276" "00025230" "77" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23*)" "2" "0000195277" "00025230" "77" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23*)" "2" "0000195278" "00025230" "77" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23*)" "2" "0000195279" "00025230" "77" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23*)" "2" "0000195280" "00025230" "77" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23*)" "2" "0000195281" "00025230" "77" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23*)" "2" "0000195282" "00025230" "77" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23*)" "2" "0000195283" "00025230" "77" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23*)" "2" "0000195284" "00025230" "77" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23*)" "2" "0000195285" "00025230" "77" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23*)" "2" "0000195286" "00025230" "77" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23*)" "2" "0000195287" "00025230" "77" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23*)" "2" "0000195288" "00025230" "77" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23*)" "2" "0000195289" "00025230" "77" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23*)" "2" "0000195290" "00025230" "77" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23*)" "2" "0000195291" "00025230" "77" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23*)" "2" "0000195292" "00025230" "77" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23*)" "2" "0000195293" "00025230" "77" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23*)" "2" "0000195294" "00025230" "77" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23*)" "2" "0000195295" "00025230" "77" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23*)" "2" "0000195296" "00025230" "77" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23*)" "2" "0000195297" "00025230" "77" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23*)" "2" "0000195298" "00025230" "77" "78" "0" "78" "0" "c.78dup" "r.(?)" "p.(Ile27Tyrfs*29)" "2" "0000195299" "00025230" "77" "81" "0" "81" "0" "c.81del" "r.(?)" "p.(Thr28Profs*31)" "2" "0000195300" "00025230" "77" "112" "0" "113" "0" "c.112_113del" "r.(?)" "p.(Ile38Cysfs*17)" "2" "0000195301" "00025230" "77" "124" "0" "124" "0" "c.124del" "r.(?)" "p.(Met42Cysfs*17)" "2" "0000195302" "00025230" "77" "151" "0" "151" "0" "c.151G>T" "r.(?)" "p.(Glu51*)" "2" "0000195303" "00025230" "77" "151" "0" "151" "0" "c.151G>T" "r.(?)" "p.(Glu51*)" "2" "0000195304" "00025230" "77" "151" "0" "151" "0" "c.151G>T" "r.(?)" "p.(Glu51*)" "2" "0000195305" "00025230" "77" "151" "0" "151" "0" "c.151G>T" "r.(?)" "p.(Glu51*)" "2" "0000195306" "00025230" "77" "178" "0" "178" "0" "c.178A>T" "r.(?)" "p.(Lys60*)" "2" "0000195307" "00025230" "77" "197" "0" "202" "0" "c.197_202delinsC" "r.(?)" "p.(Val66Alafs*3)" "2" "0000195308" "00025230" "77" "200" "0" "200" "0" "c.200dup" "r.(?)" "p.(Val68Glyfs*3)" "2" "0000195309" "00025230" "77" "201" "0" "202" "0" "c.201_202insC" "r.(?)" "p.(Val68Argfs*3)" "2" "0000195310" "00025230" "77" "233" "0" "233" "0" "c.233del" "r.(?)" "p.(Pro78Glnfs*34)" "2" "0000195311" "00025230" "77" "244" "0" "244" "0" "c.244del" "r.(?)" "p.(Asp82Ilefs*30)" "2" "0000195312" "00025230" "77" "244" "0" "244" "0" "c.244dup" "r.(?)" "p.(Asp82Glyfs*11)" "2" "0000195313" "00025230" "77" "244" "0" "244" "0" "c.244dup" "r.(?)" "p.(Asp82Glyfs*11)" "2" "0000195314" "00025230" "77" "244" "0" "245" "0" "c.244_245insC" "r.(?)" 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"p.(Arg390Thrfs*14)" "7" "0000195562" "00025230" "77" "1173" "1" "1173" "1" "c.1173+1dup" "r.spl?" "p.?" "7i" "0000195563" "00025230" "77" "1173" "1" "1173" "1" "c.1173+1G>A" "r.spl?" "p.?" "7i" "0000195564" "00025230" "77" "1173" "1" "1173" "1" "c.1173+1G>A" "r.spl?" "p.?" "7i" "0000195565" "00025230" "77" "1173" "1" "1173" "1" "c.1173+1G>A" "r.spl?" "p.?" "7i" "0000195566" "00025230" "77" "1173" "1" "1173" "1" "c.1173+1G>A" "r.spl?" "p.?" "7i" "0000195567" "00025230" "77" "1173" "1" "1173" "1" "c.1173+1G>A" "r.spl?" "p.?" "7i" "0000195568" "00025230" "77" "1173" "1" "1173" "1" "c.1173+1G>A" "r.spl?" "p.?" "7i" "0000195569" "00025230" "77" "1173" "1" "1173" "1" "c.1173+1G>A" "r.spl?" "p.?" "7i" "0000195570" "00025230" "77" "1173" "1" "1173" "1" "c.1173+1G>C" "r.spl?" "p.?" "7i" "0000195571" "00025230" "77" "1173" "1" "1173" "1" "c.1173+1G>T" "r.spl?" "p.?" "7i" "0000195572" "00025230" "77" "1173" "1" "1173" "1" "c.1173+1G>T" "r.spl?" "p.?" "7i" "0000195573" "00025230" "77" "1173" "1" "1173" "1" "c.1173+1G>T" "r.spl?" "p.?" "7i" "0000195574" "00025230" "77" "1173" "1" "1173" "1" "c.1173+1G>T" "r.spl?" "p.?" "7i" "0000195575" "00025230" "55" "1173" "14269" "1173" "14269" "c.1173+14269A>C" "r.(=)" "p.(=)" "7i" "0000195576" "00025230" "55" "1173" "14275" "1173" "14275" "c.1173+14275C>A" "r.(=)" "p.(=)" "7i" "0000195577" "00025230" "55" "1174" "-18" "1174" "-18" "c.1174-18G>T" "r.(=)" "p.(=)" "7i" "0000195578" "00025230" "77" "1174" "0" "1174" "0" "c.1174G>A" "r.(?)" "p.(Ala392Thr)" "8" "0000195579" "00025230" "77" "1181" "0" "1181" "0" "c.1181G>A" "r.(?)" "p.(Trp394*)" "8" "0000195580" "00025230" "77" "1181" "0" "1181" "0" "c.1181G>A" "r.(?)" "p.(Trp394*)" "8" "0000195581" "00025230" "77" "1181" "0" "1181" "0" "c.1181G>A" "r.(?)" "p.(Trp394*)" "8" "0000195582" "00025230" "77" "1181" "0" "1181" "0" "c.1181G>A" "r.(?)" "p.(Trp394*)" "8" "0000195583" "00025230" "77" "1181" "0" "1181" "0" "c.1181G>A" "r.(?)" "p.(Trp394*)" "8" "0000195584" "00025230" "77" "1181" "0" "1181" "0" "c.1181G>A" "r.(?)" "p.(Trp394*)" "8" "0000195585" "00025230" "77" "1181" "0" "1181" "0" "c.1181G>A" "r.(?)" "p.(Trp394*)" "8" "0000195586" "00025230" "77" "1182" "0" "1182" "0" "c.1182G>A" "r.(?)" "p.(Trp394*)" "8" "0000195587" "00025230" "77" "1185" "0" "1185" "0" "c.1185del" "r.(?)" "p.(Trp396Glyfs*40)" "8" "0000195588" "00025230" "77" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Trp396*)" "8" "0000195589" "00025230" "77" "1188" "0" "1188" "0" "c.1188G>A" "r.(?)" "p.(Trp396*)" "8" "0000195590" "00025230" "77" "1188" "0" "1188" "0" "c.1188G>A" "r.(?)" "p.(Trp396*)" "8" "0000195591" "00025230" "77" "1191" "0" "1191" "0" "c.1191del" "r.(?)" "p.(Ala398Argfs*38)" "8" "0000195592" "00025230" "77" "1197" "0" "1197" "0" "c.1197C>A" "r.(?)" "p.(Tyr399*)" "8" "0000195593" "00025230" "77" "1197" "0" "1197" "0" "c.1197del" "r.(?)" "p.(Phe400Serfs*36)" "8" "0000195594" "00025230" "77" "1201" "0" "1201" "0" "c.1201C>T" "r.(?)" "p.(Gln401*)" "8" "0000195595" "00025230" "77" "1201" "0" "1201" "0" "c.1201C>T" "r.(?)" "p.(Gln401*)" "8" "0000195596" "00025230" "77" "1201" "0" "1201" "0" "c.1201del" "r.(?)" "p.(Gln401Serfs*35)" "8" "0000195597" "00025230" "77" "1201" "0" "1201" "0" "c.1201del" "r.(?)" "p.(Gln401Serfs*35)" "8" "0000195598" "00025230" "77" "1205" "0" "1205" "0" "c.1205C>A" "r.(?)" "p.(Ser402*)" "8" "0000195599" "00025230" "77" "1205" "0" "1205" "0" "c.1205C>A" "r.(?)" "p.(Ser402*)" "8" "0000195600" "00025230" "77" "1209" "0" "1209" "0" "c.1209del" "r.(?)" "p.(Ala405Profs*31)" "8" "0000195601" "00025230" "77" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Gln412*)" "8" "0000195602" "00025230" "77" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Gln412*)" "8" "0000195603" "00025230" "77" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Gln412*)" "8" "0000195604" "00025230" "77" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Gln412*)" "8" "0000195605" "00025230" "77" "1250" "0" "1250" "0" "c.1250G>C" "r.(?)" "p.(Arg417Pro)" "8" "0000195606" "00025230" "77" "1250" "0" "1250" "0" "c.1250G>C" "r.(?)" "p.(Arg417Pro)" "8" "0000195607" "00025230" "77" "1250" "0" "1250" "0" "c.1250G>C" "r.(?)" "p.(Arg417Pro)" "8" "0000195608" "00025230" "77" "1251" "0" "1251" "0" "c.1251del" "r.(?)" "p.(Ile418Serfs*18)" "8" "0000195609" "00025230" "77" "1257" "0" "1257" "0" "c.1257T>A" "r.(?)" "p.(Tyr419*)" "8" "0000195610" "00025230" "77" "1262" "0" "1263" "0" "c.1262_1263dup" "r.(?)" "p.(Ala422Metfs*15)" "8" "0000195611" "00025230" "77" "1262" "0" "1263" "0" "c.1262_1263dup" "r.(?)" "p.(Ala422Metfs*15)" "8" "0000195612" "00025230" "77" "1263" "0" "1263" "0" "c.1263T>A" "r.(?)" "p.(Tyr421*)" "8" "0000195613" "00025230" "77" "1285" "0" "1285" "0" "c.1285T>G" "r.(?)" "p.(Trp429Gly)" "8" "0000195614" "00025230" "77" "1286" "0" "1286" "0" "c.1286G>A" "r.(?)" "p.(Trp429*)" "8" "0000195615" "00025230" "77" "1287" "0" "1287" "0" "c.1287G>A" "r.(?)" "p.(Trp429*)" "8" "0000195616" "00025230" "11" "1305" "18" "1305" "18" "c.1305+18C>A" "r.(=)" "p.(=)" "8i" "0000195617" "00025230" "55" "1527" "0" "1527" "0" "c.1527A>G" "r.(=)" "p.(=)" "10" "0000195618" "00025230" "77" "1552" "0" "1552" "0" "c.1552A>T" "r.(?)" "p.(Lys518*)" "10" "0000195619" "00025230" "55" "1641" "0" "1641" "0" "c.1641C>T" "r.(=)" "p.(=)" "10" "0000195620" "00025230" "11" "1663" "-36" "1663" "-36" "c.1663-36A>T" "r.(=)" "p.(=)" "10i" "0000195621" "00025230" "77" "1669" "0" "1669" "0" "c.1669del" "r.(?)" "p.(Arg557Glyfs*21)" "11" "0000195622" "00025230" "11" "1706" "0" "1706" "0" "c.1706G>T" "r.(?)" "p.(Arg569Leu)" "11" "0000195623" "00025230" "77" "1726" "0" "1726" "0" "c.1726G>A" "r.(?)" "p.(Glu576Lys)" "11" "0000195624" "00025230" "77" "1760" "0" "1760" "0" "c.1760C>T" "r.(?)" "p.(Thr587Met)" "11" "0000195625" "00025230" "77" "1806" "5" "1806" "5" "c.1806+5G>C" "r.spl?" "p.?" "11i" "0000195626" "00025230" "77" "1806" "11" "1806" "11" "c.1806+11G>A" "r.(=)" "p.(=)" "11i" "0000195627" "00025230" "55" "1807" "-52" "1807" "-52" "c.1807-52C>T" "r.(=)" "p.(=)" "11i" "0000195628" "00025230" "11" "1807" "-51" "1807" "-51" "c.1807-51T>C" "r.(=)" "p.(=)" "11i" "0000195629" "00025230" "77" "1945" "0" "1945" "0" "c.1945C>T" "r.(?)" "p.(Arg649*)" "13" "0000195630" "00025230" "11" "2018" "33" "2018" "33" "c.2018+33G>A" "r.(=)" "p.(=)" "13i" "0000195631" "00025230" "77" "2213" "0" "2213" "0" "c.*56G>A" "r.(=)" "p.(=)" "14" "0000195632" "00025230" "77" "2258" "0" "2258" "0" "c.*101G>A" "r.(=)" "p.(=)" "14" "0000195633" "00025230" "77" "2213" "0" "2213" "0" "c.*56G>A" "r.(=)" "p.(=)" "14" "0000195634" "00025230" "77" "2213" "0" "2213" "0" "c.*56G>A" "r.(=)" "p.(=)" "14" "0000195635" "00025230" "77" "2213" "0" "2213" "0" "c.*56G>A" "r.(=)" "p.(=)" "14" "0000195636" "00025230" "11" "3028" "0" "3028" "0" "c.*871G>A" "r.(=)" "p.(=)" "14" "0000250161" "00025230" "10" "124" "0" "124" "0" "c.124A>G" "r.(?)" "p.(Met42Val)" "" "0000250465" "00025230" "30" "1079" "7" "1079" "7" "c.1079+7A>T" "r.(=)" "p.(=)" "" "0000268935" "00025230" "10" "999" "0" "999" "0" "c.999T>C" "r.(?)" "p.(Asp333=)" "" "0000268936" "00025230" "10" "1174" "-18" "1174" "-18" "c.1174-18G>T" "r.(=)" "p.(=)" "" "0000268937" "00025230" "30" "1371" "0" "1371" "0" "c.1371C>T" "r.(?)" "p.(Thr457=)" "" "0000268938" "00025230" "30" "1588" "0" "1588" "0" "c.1588G>A" "r.(?)" "p.(Glu530Lys)" "" "0000268939" "00025230" "30" "1645" "0" "1645" "0" "c.1645C>T" "r.(?)" "p.(Leu549=)" "" "0000268940" "00025230" "30" "1726" "0" "1726" "0" "c.1726G>A" "r.(?)" "p.(Glu576Lys)" "" "0000268941" "00025230" "10" "519" "0" "519" "0" "c.519G>C" "r.(?)" "p.(Ala173=)" "" "0000268942" "00025230" "10" "-31" "474" "-31" "474" "c.-31+474G>A" "r.(=)" "p.(=)" "" "0000268943" "00025230" "30" "744" "-10" "744" "-10" "c.744-10T>G" "r.(=)" "p.(=)" "" "0000268944" "00025230" "50" "748" "0" "748" "0" "c.748C>T" "r.(?)" "p.(Arg250Trp)" "" "0000276448" "00025230" "90" "956" "0" "956" "0" "c.956del" "r.(?)" "p.(Val319GlyfsTer13)" "" "0000276449" "00025230" "50" "1412" "0" "1412" "0" "c.1412G>A" "r.(?)" "p.(Arg471Gln)" "" "0000276450" "00025230" "50" "1706" "0" "1706" "0" "c.1706G>A" "r.(?)" "p.(Arg569His)" "" "0000276451" "00025230" "90" "382" "0" "382" "0" "c.382del" "r.(?)" "p.(Arg128GlyfsTer142)" "" "0000276452" "00025230" "90" "395" "0" "396" "0" "c.395_396del" "r.(?)" "p.(Glu132AlafsTer9)" "" "0000322201" "00025230" "30" "710" "0" "710" "0" "c.710C>T" "r.(?)" "p.(Ser237Leu)" "" "0000439975" "00025230" "90" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23Ter)" "2" "0000439976" "00025230" "90" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23Ter)" "2" "0000439977" "00025230" "90" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23Ter)" "2" "0000439978" "00025230" "90" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23Ter)" "2" "0000439979" "00025230" "90" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23Ter)" "2" "0000439980" "00025230" "90" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23Ter)" "2" "0000439981" "00025230" "90" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23Ter)" "2" "0000439982" "00025230" "90" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23Ter)" "2" "0000439983" "00025230" "90" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23Ter)" "2" "0000439984" "00025230" "90" "81" "0" "81" "0" "c.81del" "r.(?)" "p.(Thr28ProfsTer31)" "2" "0000439985" "00025230" "90" "151" "0" "151" "0" "c.151G>T" "r.(?)" "p.(Glu51Ter)" "2" "0000439986" "00025230" "90" "173" "0" "173" "0" "c.173del" "r.(?)" "p.(Val58GlufsTer54)" "2" "0000439987" "00025230" "90" "244" "0" "244" "0" "c.244del" "r.(?)" "p.(Asp82IlefsTer30)" "2" "0000439988" "00025230" "90" "315" "0" "315" "0" "c.315del" "r.(?)" "p.(Val106CysfsTer6)" "2" "0000439989" "00025230" "90" "380" "0" "380" "0" "c.380del" "r.(?)" "p.(Arg128GlyfsTer142)" "2" "0000439990" "00025230" "90" "390" "0" "390" "0" "c.390T>A" "r.(?)" "p.(Tyr130Ter)" "2" "0000439991" "00025230" "90" "390" "0" "390" "0" "c.390T>A" "r.(?)" "p.(Tyr130Ter)" "2" "0000439992" "00025230" "90" "390" "0" "390" "0" "c.390T>A" "r.(?)" "p.(Tyr130Ter)" "2" "0000439993" "00025230" "90" "448" "0" "448" "0" "c.448del" "r.(?)" "p.(Ala150ProfsTer120)" "2" "0000439994" "00025230" "90" "454" "0" "457" "0" "c.454_457del" "r.(?)" "p.(Val154ProfsTer115)" "2" "0000439995" "00025230" "90" "607" "0" "607" "0" "c.607del" "r.(?)" "p.(Leu203TrpfsTer67)" "3" "0000439996" "00025230" "90" "668" "0" "668" "0" "c.668G>C" "r.(?)" "p.(Arg223Pro)" "4" "0000439997" "00025230" "90" "684" "0" "688" "0" "c.684_688delinsTGCC" "r.(?)" "p.(Ser229AlafsTer41)" "4" "0000439998" "00025230" "90" "728" "0" "728" "0" "c.728del" "r.(?)" "p.(Pro243GlnfsTer27)" "4" "0000439999" "00025230" "90" "863" "0" "863" "0" "c.863A>G" "r.(?)" "p.(Asn288Ser)" "5" "0000440000" "00025230" "90" "863" "0" "863" "0" "c.863A>G" "r.(?)" "p.(Asn288Ser)" "5" "0000440001" "00025230" "90" "863" "0" "863" "0" "c.863del" "r.(?)" "p.(Asn288ThrfsTer44)" "5" "0000440002" "00025230" "90" "883" "0" "887" "0" "c.883_887del" "r.(?)" "p.(Ser295ProfsTer2)" "5" "0000440003" "00025230" "90" "991" "0" "992" "0" "c.991_992insN[?]" "r.(?)" "p.(Leu331Ter)" "6" "0000440004" "00025230" "90" "1004" "0" "1004" "0" "c.1004del" "r.(?)" "p.(Leu335TyrfsTer101)" "6" "0000440005" "00025230" "90" "1052" "0" "1052" "0" "c.1052C>T" "r.(?)" "p.(Pro351Leu)" "6" "0000440006" "00025230" "90" "1016" "0" "1016" "0" "c.1016G>A" "r.(?)" "p.(Cys339Tyr)" "6" "0000440007" "00025230" "90" "1188" "0" "1188" "0" "c.1188G>A" "r.(?)" "p.(Trp396Ter)" "8" "0000440008" "00025230" "90" "1286" "0" "1286" "0" "c.1286G>A" "r.(?)" "p.(Trp429Ter)" "8" "0000440009" "00025230" "90" "1496" "-1" "1662" "1" "c.(1495+1_1496-1)_(1662+1_1663-1)del" "r.?" "p.0?" "9i_10i" "0000440010" "00025230" "90" "1496" "-1" "1662" "1" "c.(1495+1_1496-1)_(1662+1_1663-1)del" "r.?" "p.0?" "9i_10i" "0000440011" "00025230" "90" "0" "0" "0" "0" "c.(1495+1_1495-1)_*1143{0}" "r.?" "p.0?" "9i_14_" "0000543910" "00025230" "10" "-31" "7" "-31" "7" "c.-31+7G>T" "r.(=)" "p.(=)" "" "0000543911" "00025230" "50" "-31" "403" "-31" "403" "c.-31+403G>A" "r.(=)" "p.(=)" "" "0000543912" "00025230" "30" "-31" "474" "-31" "474" "c.-31+474G>A" "r.(=)" "p.(=)" "" "0000543913" "00025230" "30" "201" "0" "201" "0" "c.201G>A" "r.(?)" "p.(Pro67=)" "" "0000543914" "00025230" "10" "264" "0" "264" "0" "c.264C>T" "r.(?)" "p.(His88=)" "" "0000543915" "00025230" "30" "404" "0" "404" "0" "c.404T>C" "r.(?)" "p.(Met135Thr)" "" "0000543916" "00025230" "30" "710" "0" "710" "0" "c.710C>T" "r.(?)" "p.(Ser237Leu)" "" "0000543917" "00025230" "30" "710" "0" "710" "0" "c.710C>T" "r.(?)" "p.(Ser237Leu)" "" "0000543918" "00025230" "30" "744" "-6" "744" "-6" "c.744-6T>A" "r.(=)" "p.(=)" "" "0000543919" "00025230" "10" "918" "0" "918" "0" "c.918C>T" "r.(?)" "p.(Phe306=)" "" "0000543920" "00025230" "50" "1087" "0" "1087" "0" "c.1087G>A" "r.(?)" "p.(Val363Met)" "" "0000543921" "00025230" "10" "1110" "0" "1110" "0" "c.1110G>T" "r.(?)" "p.(Met370Ile)" "" "0000543923" "00025230" "50" "1588" "0" "1588" "0" "c.1588G>A" "r.(?)" "p.(Glu530Lys)" "" "0000543924" "00025230" "30" "1588" "0" "1588" "0" "c.1588G>A" "r.(?)" "p.(Glu530Lys)" "" "0000543925" "00025230" "30" "1839" "0" "1839" "0" "c.1839T>A" "r.(?)" "p.(Pro613=)" "" "0000613336" "00025230" "50" "1681" "0" "1681" "0" "c.1681G>C" "r.(?)" "p.(Asp561His)" "" "0000622631" "00025230" "30" "1178" "0" "1178" "0" "c.1178G>A" "r.(?)" "p.(Arg393Gln)" "" "0000648251" "00025230" "50" "284" "0" "284" "0" "c.284G>A" "r.(?)" "p.(Arg95His)" "" "0000648252" "00025230" "30" "896" "0" "896" "0" "c.896G>A" "r.(?)" "p.(Arg299His)" "" "0000648253" "00025230" "50" "1087" "0" "1087" "0" "c.1087G>A" "r.(?)" "p.(Val363Met)" "" "0000656789" "00025230" "50" "8" "0" "8" "0" "c.8C>T" "r.(?)" "p.(Ala3Val)" "" "0000656790" "00025230" "50" "509" "0" "509" "0" "c.509C>T" "r.(?)" "p.(Thr170Ile)" "" "0000656791" "00025230" "30" "520" "0" "520" "0" "c.520A>T" "r.(?)" "p.(Met174Leu)" "" "0000656792" "00025230" "30" "843" "0" "843" "0" "c.843A>G" "r.(?)" "p.(Leu281=)" "" "0000660658" "00025230" "90" "1174" "-1" "1662" "1" "c.(1173+1_1174-1)_(1662+1_1663-1)del" "r.(1174_1662del)" "p.(Ala392_Glu554del)" "" "0000679187" "00025230" "30" "1495" "8" "1495" "8" "c.1495+8G>A" "r.(=)" "p.(=)" "" "0000682777" "00025230" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Gln176*)" "" "0000682778" "00025230" "10" "28" "0" "28" "0" "c.28C>A" "r.(=)" "p.(=)" "" "0000682782" "00025230" "90" "561" "0" "561" "0" "c.561del" "r.(?)" "p.(Leu188Cysfs*82)" "" "0000682783" "00025230" "90" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23*)" "" "0000691061" "00025230" "50" "283" "0" "283" "0" "c.283C>T" "r.(?)" "p.(Arg95Cys)" "" "0000691062" "00025230" "30" "1194" "0" "1194" "0" "c.1194G>A" "r.(?)" "p.(Ala398=)" "" "0000723447" "00025230" "90" "911" "0" "914" "0" "c.911_914dup" "r.(?)" "p.(Phe306Glyfs*50)" "" "0000723448" "00025230" "90" "1496" "-1" "1496" "-1" "c.1496-1G>T" "r.spl?" "p.?" "" "0000731299" "00025230" "50" "1936" "-41" "1936" "-41" "c.1936-41T>C" "r.(=)" "p.(?)" "" "0000791289" "00025230" "90" "626" "2" "626" "5" "c.626+2_626+5del" "r.[(537_626del,548_626del)]" "p.?" "" "0000791290" "00025230" "30" "28" "0" "28" "0" "c.28C>A" "r.(=)" "p.(=)" "" "0000791291" "00025230" "30" "1080" "-18" "1080" "-18" "c.1080-18T>A" "r.(?" "p.(=)" "" "0000791292" "00025230" "30" "1807" "-51" "1807" "-51" "c.1807-51T>C" "r.(?)" "p.(=)" "" "0000794974" "00025230" "50" "770" "0" "770" "0" "c.770C>G" "r.(?)" "p.(Ser257Cys)" "" "0000795619" "00025230" "70" "11" "0" "11" "0" "c.11C>T" "r.(?)" "p.(Ser4Leu)" "" "0000805123" "00025230" "50" "260" "0" "260" "0" "c.260T>G" "r.(?)" "p.(Met87Arg)" "" "0000805124" "00025230" "50" "425" "0" "425" "0" "c.425A>T" "r.(?)" "p.(Tyr142Phe)" "" "0000852901" "00025230" "50" "929" "0" "929" "0" "c.929A>T" "r.(?)" "p.(Gln310Leu)" "" "0000862530" "00025230" "50" "232" "0" "232" "0" "c.232C>G" "r.(?)" "p.(Pro78Ala)" "" "0000862531" "00025230" "30" "404" "0" "404" "0" "c.404T>C" "r.(?)" "p.(Met135Thr)" "" "0000880448" "00025230" "90" "" "0" "" "0" "c.(1495+1_1495-1)_*1143{0}" "r.?" "p.0?" "9i_14_" "0000880449" "00025230" "90" "" "0" "" "0" "c.(1495+1_1495-1)_*1143{0}" "r.?" "p.0?" "9i_14_" "0000880450" "00025230" "90" "" "0" "" "0" "c.(1495+1_1495-1)_*1143{0}" "r.?" "p.0?" "9i_14_" "0000889828" "00025230" "90" "1740" "0" "1740" "0" "c.1740G>A" "r.(?)" "p.(Trp580*)" "" "0000889829" "00025230" "50" "1760" "0" "1760" "0" "c.1760C>T" "r.(?)" "p.(Thr587Met)" "" "0000913577" "00025230" "10" "710" "0" "710" "0" "c.710C>T" "r.(?)" "p.(Ser237Leu)" "" "0000913578" "00025230" "30" "1173" "14201" "1173" "14201" "c.1173+14201G>A" "r.(=)" "p.(=)" "" "0000925384" "00025230" "50" "1588" "0" "1588" "0" "c.1588G>A" "r.(?)" "p.(Glu530Lys)" "" "0000927664" "00025230" "90" "124" "0" "124" "0" "c.124del" "r.(?)" "p.(Met42CysfsTer17)" "" "0000929864" "00025230" "50" "283" "0" "283" "0" "c.283C>T" "r.(?)" "p.(Arg95Cys)" "" "0000949656" "00025230" "30" "264" "0" "264" "0" "c.264C>T" "r.(?)" "p.(His88=)" "" "0000949657" "00025230" "30" "519" "0" "519" "0" "c.519G>C" "r.(?)" "p.(Ala173=)" "" "0000949658" "00025230" "90" "659" "0" "659" "0" "c.659G>A" "r.(?)" "p.(Trp220*)" "" "0000949659" "00025230" "30" "860" "0" "860" "0" "c.860C>A" "r.(?)" "p.(Thr287Asn)" "" "0000949660" "00025230" "30" "918" "0" "918" "0" "c.918C>T" "r.(?)" "p.(Phe306=)" "" "0000949661" "00025230" "50" "919" "0" "919" "0" "c.919G>A" "r.(?)" "p.(Asp307Asn)" "" "0000949662" "00025230" "90" "939" "1" "939" "1" "c.939+1G>C" "r.spl?" "p.?" "" "0000949663" "00025230" "30" "1662" "20" "1662" "20" "c.1662+20T>C" "r.(=)" "p.(=)" "" "0000966361" "00025230" "10" "264" "0" "264" "0" "c.264C>T" "r.(?)" "p.(His88=)" "" "0000966362" "00025230" "30" "520" "0" "520" "0" "c.520A>C" "r.(?)" "p.(Met174Leu)" "" "0000966363" "00025230" "50" "1022" "0" "1022" "0" "c.1022C>T" "r.(?)" "p.(Pro341Leu)" "" "0000966364" "00025230" "10" "1110" "0" "1110" "0" "c.1110G>T" "r.(?)" "p.(Met370Ile)" "" "0000972237" "00025230" "90" "342" "0" "342" "0" "c.342C>G" "r.(?)" "p.(Tyr114Ter)" "" "0000972273" "00025230" "90" "728" "0" "728" "0" "c.728del" "r.(?)" "p.(Pro243GlnfsTer27)" "" "0000979570" "00025230" "50" "284" "0" "284" "0" "c.284G>A" "r.(?)" "p.(Arg95His)" "" "0000979571" "00025230" "90" "459" "0" "462" "0" "c.459_462del" "r.(?)" "p.(Val154Profs*115)" "" "0000979572" "00025230" "50" "634" "0" "634" "0" "c.634T>A" "r.(?)" "p.(Leu212Met)" "" "0000979573" "00025230" "90" "744" "-2" "744" "-2" "c.744-2A>C" "r.spl?" "p.?" "" "0000979574" "00025230" "30" "1806" "9" "1806" "9" "c.1806+9del" "r.(=)" "p.(=)" "" "0000979575" "00025230" "50" "1916" "0" "1916" "0" "c.1916C>T" "r.(?)" "p.(Thr639Met)" "" "0000989379" "00025230" "70" "751" "0" "751" "0" "c.751C>T" "r.(?)" "p.(Gln251*)" "5" "0000989380" "00025230" "70" "751" "0" "751" "0" "c.751C>T" "r.(?)" "p.(Gln251*)" "5" "0000989381" "00025230" "70" "751" "0" "751" "0" "c.751C>T" "r.(?)" "p.(Gln251*)" "5" "0000989395" "00025230" "90" "310" "0" "310" "0" "c.310del" "r.(?)" "p.(Ile104Serfs*8)" "2" "0000989400" "00025230" "90" "310" "0" "310" "0" "c.310del" "r.(?)" "p.(Ile104Serfs*8)" "2" "0000989401" "00025230" "90" "310" "0" "310" "0" "c.310del" "r.(?)" "p.(Ile104Serfs*8)" "2" "0000989402" "00025230" "90" "310" "0" "310" "0" "c.310del" "r.(?)" "p.(Ile104Serfs*8)" "2" "0000989411" "00025230" "90" "310" "0" "310" "0" "c.310del" "r.(?)" "p.(Ile104Serfs*8)" "2" "0000989413" "00025230" "70" "751" "0" "751" "0" "c.751C>T" "r.(?)" "p.(Gln251*)" "5" "0000989415" "00025230" "70" "751" "0" "751" "0" "c.751C>T" "r.(?)" "p.(Gln251*)" "5" "0000989416" "00025230" "70" "751" "0" "751" "0" "c.751C>T" "r.(?)" "p.(Gln251*)" "5" "0000989417" "00025230" "70" "751" "0" "751" "0" "c.751C>T" "r.(?)" "p.(Gln251*)" "5" "0000989419" "00025230" "70" "751" "0" "751" "0" "c.751C>T" "r.(?)" "p.(Gln251*)" "5" "0000989420" "00025230" "70" "751" "0" "751" "0" "c.751C>T" "r.(?)" "p.(Gln251*)" "5" "0000989421" "00025230" "70" "751" "0" "751" "0" "c.751C>T" "r.(?)" "p.(Gln251*)" "5" "0000989423" "00025230" "70" "751" "0" "751" "0" "c.751C>T" "r.(?)" "p.(Gln251*)" "5" "0000989424" "00025230" "70" "751" "0" "751" "0" "c.751C>T" "r.(?)" "p.(Gln251*)" "5" "0000989425" "00025230" "70" "751" "0" "751" "0" "c.751C>T" "r.(?)" "p.(Gln251*)" "5" "0000989426" "00025230" "70" "751" "0" "751" "0" "c.751C>T" "r.(?)" "p.(Gln251*)" "5" "0000989427" "00025230" "70" "751" "0" "751" "0" "c.751C>T" "r.(?)" "p.(Gln251*)" "5" "0000989428" "00025230" "70" "751" "0" "751" "0" "c.751C>T" "r.(?)" "p.(Gln251*)" "5" "0000989436" "00025230" "90" "310" "0" "310" "0" "c.310del" "r.(?)" "p.(Ile104Serfs*8)" "2" "0000989441" "00025230" "90" "310" "0" "310" "0" "c.310del" "r.(?)" "p.(Ile104Serfs*8)" "2" "0000989442" "00025230" "90" "310" "0" "310" "0" "c.310del" "r.(?)" "p.(Ile104Serfs*8)" "2" "0000989443" "00025230" "90" "310" "0" "310" "0" "c.310del" "r.(?)" "p.(Ile104Serfs*8)" "2" "0000989451" "00025230" "90" "310" "0" "310" "0" "c.310del" "r.(?)" "p.(Ile104Serfs*8)" "2" "0000989452" "00025230" "90" "310" "0" "310" "0" "c.310del" "r.(?)" "p.(Ile104Serfs*8)" "2" "0000989453" "00025230" "90" "310" "0" "310" "0" "c.310del" "r.(?)" "p.(Ile104Serfs*8)" "2" "0000989454" "00025230" "90" "310" "0" "310" "0" "c.310del" "r.(?)" "p.(Ile104Serfs*8)" "2" "0000989455" "00025230" "90" "310" "0" "310" "0" "c.310del" "r.(?)" "p.(Ile104Serfs*8)" "2" "0000989456" "00025230" "70" "751" "0" "751" "0" "c.751C>T" "r.(?)" "p.(Gln251*)" "5" "0000989457" "00025230" "70" "751" "0" "751" "0" "c.751C>T" "r.(?)" "p.(Gln251*)" "5" "0000989458" "00025230" "90" "310" "0" "310" "0" "c.310del" "r.(?)" "p.(Ile104Serfs*8)" "2" "0000989459" "00025230" "70" "310" "0" "310" "0" "c.310del" "r.(?)" "p.(Ile104Serfs*8)" "2" "0000989996" "00025230" "70" "310" "0" "310" "0" "c.310del" "r.(?)" "p.(Ile104Serfs*8)" "2" "0000999026" "00025230" "50" "11" "0" "11" "0" "c.11C>T" "r.(?)" "p.(Ser4Leu)" "" "0000999027" "00025230" "90" "200" "0" "200" "0" "c.200dup" "r.(?)" "p.(Val68Glyfs*3)" "" "0000999028" "00025230" "30" "382" "0" "382" "0" "c.382C>T" "r.(?)" "p.(Arg128Trp)" "" "0000999029" "00025230" "30" "1173" "14177" "1173" "14177" "c.1173+14177G>A" "r.(=)" "p.(=)" "" "0000999030" "00025230" "30" "1234" "0" "1234" "0" "c.1234C>G" "r.(?)" "p.(Gln412Glu)" "" "0000999031" "00025230" "30" "1306" "-23" "1306" "-23" "c.1306-23C>T" "r.(=)" "p.(=)" "" "0000999032" "00025230" "50" "1760" "0" "1760" "0" "c.1760C>T" "r.(?)" "p.(Thr587Met)" "" "0001008397" "00025230" "50" "497" "0" "497" "0" "c.497G>A" "r.(?)" "p.(Arg166His)" "" "0001014793" "00025230" "30" "462" "0" "462" "0" "c.462T>A" "r.(?)" "p.(=)" "" "0001025973" "00025230" "90" "1080" "-2" "1080" "-2" "c.1080-2A>G" "r.spl?" "p.?" "" "0001025974" "00025230" "50" "1496" "-1" "1496" "-1" "c.1496-1G>T" "r.spl?" "p.?" "" "0001038448" "00025230" "90" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23*)" "" "0001038449" "00025230" "50" "380" "0" "380" "0" "c.380C>G" "r.(?)" "p.(Ser127Cys)" "" "0001038450" "00025230" "50" "383" "0" "383" "0" "c.383G>A" "r.(?)" "p.(Arg128Gln)" "" "0001038451" "00025230" "50" "760" "0" "760" "0" "c.760C>T" "r.(?)" "p.(Leu254Phe)" "" "0001038452" "00025230" "50" "1079" "0" "1079" "0" "c.1079G>A" "r.(?)" "p.(Arg360Lys)" "" "0001038453" "00025230" "30" "2013" "0" "2013" "0" "c.2013G>A" "r.(?)" "p.(=)" "" "0001046309" "00025230" "90" "928" "0" "928" "0" "c.928C>T" "r.(?)" "p.(Gln310*)" "" "0001046310" "00025230" "50" "1945" "0" "1945" "0" "c.1945C>T" "r.(?)" "p.(Arg649*)" "" "0001048189" "00025230" "50" "2034" "0" "2034" "0" "c.2034C>G" "r.(?)" "p.(Asn678Lys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 480 "{{screeningid}}" "{{variantid}}" "0000101067" "0000163511" "0000119144" "0000195249" "0000119145" "0000195250" "0000119146" "0000195251" "0000119147" "0000195252" "0000119148" "0000195253" "0000119149" "0000195254" "0000119150" "0000195255" "0000119151" "0000195256" "0000119152" "0000195257" "0000119153" "0000195258" "0000119154" "0000195259" "0000119155" "0000195260" "0000119156" "0000195261" "0000119157" "0000195262" "0000119158" "0000195263" "0000119159" "0000195264" "0000119160" "0000195265" "0000119161" "0000195266" "0000119162" "0000195267" "0000119163" "0000195268" "0000119164" "0000195269" "0000119165" "0000195270" "0000119166" "0000195271" "0000119167" "0000195272" "0000119168" "0000195273" "0000119169" "0000195274" "0000119170" "0000195275" "0000119171" "0000195276" "0000119172" "0000195277" "0000119173" "0000195278" "0000119174" "0000195279" "0000119175" "0000195280" "0000119176" "0000195281" "0000119177" "0000195282" "0000119178" "0000195283" "0000119179" "0000195284" "0000119180" "0000195285" "0000119181" "0000195286" "0000119182" "0000195287" "0000119183" "0000195288" "0000119184" "0000195289" "0000119185" "0000195290" "0000119186" "0000195291" "0000119187" "0000195292" "0000119188" "0000195293" "0000119189" "0000195294" "0000119190" "0000195295" "0000119191" "0000195296" "0000119192" "0000195297" "0000119193" "0000195298" "0000119194" "0000195299" "0000119195" "0000195300" "0000119196" "0000195301" "0000119197" "0000195302" "0000119198" "0000195303" "0000119199" "0000195304" "0000119200" "0000195305" "0000119201" "0000195306" "0000119202" "0000195307" "0000119203" "0000195308" "0000119204" "0000195309" "0000119205" "0000195310" "0000119206" "0000195311" "0000119207" "0000195312" "0000119208" "0000195313" "0000119209" "0000195314" "0000119210" "0000195315" "0000119211" "0000195316" "0000119212" "0000195317" "0000119213" "0000195318" "0000119214" 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