### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = EXT1) # 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}}" "EXT1" "exostosin 1" "8" "q24.11" "unknown" "NG_007455.2" "UD_132119111511" "" "http://www.LOVD.nl/EXT1" "" "1" "3512" "2131" "608177" "1" "1" "1" "1" " The Multiple Osteochondroma Mutation Database for EXT1 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/EXT1_codingDNA.html" "1" "" " A Multiple Osteochondroma Mutation Database" "-1" "" "-1" "00001" "2008-12-06 00:00:00" "00006" "2017-06-13 10:48:51" "00000" "2023-09-05 12:45:02" ## 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}}" "00007320" "EXT1" "exostosin 1" "001" "NM_000127.2" "" "NP_000118.2" "" "" "" "-773" "2590" "2241" "119124058" "118811602" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{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" "2016-10-22 17:54:40" "00936" "TRPS2;LGS" "trichorhinophalangeal syndrome, type II (TRPS-2, Langer-Giedion syndrome (LGS))" "" "150230" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01325" "EXT1" "exostoses, congenital, multiple, type 1 (EXT1)" "AD" "133700" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-09-30 11:12:15" "01711" "chondrosarcoma" "chondrosarcoma" "AR" "215300" "" "" "" "00006" "2014-09-25 23:29:40" "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" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "05804" "EXT" "exostoses, multiple (EXT)" "" "" "" "" "" "00006" "2020-08-07 09:19:00" "" "" "06989" "cleft" "cleft lip with/without cleft palate" "" "" "" "" "" "00006" "2022-12-23 13:40:13" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{geneid}}" "{{diseaseid}}" "EXT1" "00936" "EXT1" "01325" "EXT1" "01711" "EXT1" "05318" "EXT1" "05804" ## Individuals ## Do not remove or alter this header ## ## Count = 810 "{{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}}" "00081272" "" "" "" "1" "" "01741" "" "" "" "" "Germany" "" "0" "" "" "" "" "00103216" "" "" "" "1" "" "01741" "" "" "" "" "Germany" "" "0" "" "" "" "" "00104711" "" "" "" "1" "" "01741" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00117963" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "United States" "" "0" "" "" "" "" "00117964" "" "" "" "1" "" "02210" "{PMID12239711:Hall, 2002}" "" "" "" "" "" "0" "" "" "" "" "00117965" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "United States" "" "0" "" "" "" "" "00117966" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Croatia (Hrvatska)" "" "0" "" "" "" "" "00117967" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "United States" "" "0" "" "" "" "" "00117968" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "" "" "0" "" "" "" "" "00117969" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00117970" "" "" "" "1" "" "02210" "{PMID21703028:Jennes, 2011}" "" "" "" "United States" "" "0" "" "" "" "" "00117971" "" "" "" "1" "" "02210" "{PMID18165274:Jennes, 2008}" "" "" "" "Kuwait" "" "0" "" "" "" "" "00117972" "" "" "" "1" "" "02210" "{PMID18165274:Jennes, 2008}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00117973" "" "" "" "1" "" "02210" "{PMID21703028:Jennes, 2011}" "" "" "" "" "" "0" "" "" "" "" "00117974" "" "" "" "1" "" "02210" "{PMID18165274:Jennes, 2008}" "" "" "" "Spain" "" "0" "" "" "" "" "00117978" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "" "" "0" "" "" "" "" "00117979" "" "" "" "1" "" "02210" "" "" "" "" "" "" "0" "" "" "" "" "00117980" "" "" "" "1" "" "02210" "" "" "" "" "" "" "0" "" "" "" "" "00117981" "" "" "" "1" "" "02210" "" "" "" "" "" "" "0" "" "" "" "" "00117982" "" "" "" "1" "" "02210" "{PMID15221792:White, 2004}" "" "" "" "Spain" "" "0" "" "" "" "" "00117983" "" "" "" "1" "" "02210" "{PMID15221792:White, 2004}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00117984" "" "" "" "1" "" "02210" "{PMID15221792:White, 2004}" "" "" "" "United States" "" "0" "" "" "" "" "00117985" "" "" "" "1" "" "02152" "Bakker, not yet published" "" "" "" "" "" "0" "" "" "" "" "00117986" "" "" "" "1" "" "02210" "{PMID17301954:Signori, 2007}" "" "" "" "Italy" "" "0" "" "" "" "" "00117987" "" "" "" "1" "" "02210" "{PMID17301954:Signori, 2007}" "" "" "" "Italy" "" "0" "" "" "" "" "00117988" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "" "" "0" "" "" "" "" "00117989" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Bulgaria" "" "0" "" "" "Bulgary" "" "00117990" "" "" "" "1" "" "02210" "{PMID21703028:Jennes, 2011}" "" "" "" "Bulgaria" "" "0" "" "" "Bulgary" "" "00117991" "" "" "" "1" "" "02210" "{PMID21703028:Jennes, 2011}" "" "" "" "Denmark" "" "0" "" "" "" "" "00117992" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00117993" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "F" "" "" "" "0" "" "" "" "" "00117994" "" "" "" "1" "" "02210" "{PMID17301954:Signori, 2007}" "" "" "" "Italy" "" "0" "" "" "" "" "00117995" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00117996" "" "" "" "1" "" "02210" "{PMID16088908:Pedrini, 2005}" "" "" "" "Italy" "" "0" "" "" "" "" "00117997" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Hungary" "" "0" "" "" "" "" "00117998" "" "" "" "1" "" "02213" "Casey, not yet published" "" "" "" "" "" "0" "" "" "" "" "00117999" "" "" "" "1" "" "02210" "Jennes, not yet published" "Family 322 (2 patients)" "" "" "Belgium" "" "0" "" "" "Turkey" "" "00118000" "" "" "" "1" "" "02210" "{PMID:Dobson-Stone 2000:10713884}" "" "" "" "" "" "0" "" "" "white" "" "00118001" "" "" "" "1" "" "02210" "{PMID11432960:Francannet, 2001}" "Proband = A1-1 (2 patients in family)" "" "" "France" "" "0" "" "" "" "" "00118002" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118003" "" "" "" "1" "" "02210" "{PMID19344451:Heinritz, 2009}" "" "" "" "Germany" "" "0" "" "" "" "" "00118004" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Germany" "" "0" "" "" "" "" "00118005" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118006" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118007" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Belgium" "" "0" "" "" "" "" "00118008" "" "" "" "1" "" "02210" "{PMID:Dobson-Stone 2000:10713884}" "" "" "" "" "" "0" "" "" "white" "" "00118009" "" "" "" "1" "" "02210" "{PMID:Dobson-Stone 2000:10713884}" "" "" "" "" "" "0" "" "" "white" "" "00118010" "" "" "" "1" "" "02210" "{PMID16088908:Pedrini, 2005}" "" "" "" "Italy" "" "0" "" "" "" "" "00118011" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00118012" "" "" "" "1" "" "02210" "{PMID18373409: Leube, 2008}" "" "" "" "" "" "0" "" "" "" "" "00118013" "" "" "" "1" "" "02213" "Casey, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118014" "" "" "" "1" "" "02210" "{PMID17589361:Alvarez, 2007}" "" "" "" "" "" "0" "" "" "" "" "00118015" "" "" "" "1" "" "02210" "{PMID10441575:Bovée, 1999}" "" "" "" "" "" "0" "" "" "" "" "00118016" "" "" "" "1" "" "02210" "{PMID9521425:Raskind, 1998}" "" "" "" "United States" "" "0" "" "" "" "" "00118017" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118018" "" "" "" "1" "" "02210" "{PMID18373409: Leube, 2008}" "" "" "" "" "" "0" "" "" "" "" "00118019" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "" "" "Germany" "" "0" "" "" "" "" "00118020" "" "" "" "1" "" "02210" "{PMID19309273:Vanita, 2009}" "" "" "" "India" "" "0" "" "" "" "" "00118021" "" "" "" "1" "" "02210" "{PMID9326317:Philippe, 1997}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00118022" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Bulgaria" "" "0" "" "" "Bulgary" "" "00118023" "" "" "" "1" "" "02210" "{PMID16088908:Pedrini, 2005}" "" "F" "" "Italy" "" "0" "" "" "" "" "00118024" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "M" "" "Italy" "" "0" "" "" "" "" "00118025" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118026" "" "" "" "1" "" "02213" "Casey, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118027" "" "" "" "1" "" "02210" "{PMID9463333:Wuyts, 1998}" "Family 26 (2 patients)" "" "" "Italy" "" "0" "" "" "white" "" "00118028" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118029" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Germany" "" "0" "" "" "" "" "00118030" "" "" "" "1" "" "02210" "{PMID17589361:Alvarez, 2007}" "" "" "" "" "" "0" "" "" "" "" "00118031" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118032" "" "" "" "1" "" "02210" "{PMID18216313:Roberts, 2008}" "Familial neprhopathy, nephrotic syndrome, skin infections, family history of renal disease & hearing impairment" "" "" "" "" "0" "" "" "" "" "00118033" "" "" "" "1" "" "02210" "{PMID:Dobson-Stone 2000:10713884}" "" "" "" "" "" "0" "" "" "white" "" "00118034" "" "" "" "1" "" "02210" "{PMID:Dobson-Stone 2000:10713884}" "" "" "" "" "" "0" "" "" "white" "" "00118035" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Denmark" "" "0" "" "" "" "" "00118036" "" "" "" "1" "" "02210" "{PMID:Dobson-Stone 2000:10713884}" "" "" "" "" "" "0" "" "" "white" "" "00118037" "" "" "" "1" "" "02210" "{PMID:Dobson-Stone 2000:10713884}" "" "" "" "" "" "0" "" "" "white" "" "00118038" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118039" "" "" "" "1" "" "02210" "{PMID9150727:Wells, 1997}" "Family 125 (3 generations, 3 patients)" "" "" "United States" "" "0" "" "" "" "" "00118040" "" "" "" "1" "" "02210" "{PMID18165274:Jennes, 2008}" "" "" "" "Germany" "" "0" "" "" "" "" "00118041" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118042" "" "" "" "1" "" "02210" "{PMID11432960:Francannet, 2001}" "Proband = A1-2 (9 patients in family)" "" "" "France" "" "0" "" "" "" "" "00118043" "" "" "" "1" "" "02210" "{PMID9150727:Wells, 1997}" "Family 15 (3 generations, 5 patients)" "" "" "United States" "" "0" "" "" "" "" "00118044" "" "" "" "1" "" "02210" "{PMID10934647:Legeai-Mallet, 2000}" "3 patients; Father & doughter with mild phenotype, son with severe phenotype." "" "" "France" "" "0" "" "" "" "" "00118045" "" "" "" "1" "" "02210" "{PMID11432960:Francannet, 2001}" "Proband = A1-3 (5 patients in family)" "" "" "France" "" "0" "" "" "" "" "00118046" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118047" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Mexico" "" "0" "" "" "Hispanic" "" "00118048" "" "" "" "1" "" "02210" "{PMID10480354:Xu, 1999}" "" "" "" "China" "" "0" "" "" "Asian" "" "00118049" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118050" "" "" "" "1" "" "02210" "{PMID11432960:Francannet, 2001}" "Proband = A1-4 (6 patients in family)" "" "" "France" "" "0" "" "" "" "" "00118051" "" "" "" "1" "" "02210" "{PMID9521425:Raskind, 1998}" "HME30: High prevalence of EXT in Chamorros from Guam; Possibly a founder effect in this relatively isolated population (Krooth, 1961)." "" "" "Guam" "" "0" "" "" "Chamorro" "" "00118052" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118053" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Ukraine" "" "0" "" "" "" "" "00118054" "" "" "" "1" "" "02210" "{PMID16879194:Alvarez, 2006}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00118055" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "Italy" "" "0" "" "" "white" "" "00118056" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118057" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118058" "" "" "" "1" "" "02210" "{PMID:Pei 2010:21039224}" "Sporadic case 12" "" "" "China" "" "0" "" "" "" "" "00118059" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118060" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118061" "" "" "" "1" "" "02214" "Asteggiano, not yet published" "" "F" "" "Argentina" "" "0" "" "" "Italian" "" "00118062" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118063" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00118064" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Belgium" "" "0" "" "" "white" "" "00118065" "" "" "" "1" "" "02210" "{PMID10679937:Wuyts, 2000}" "Data from Zaletayev, unpublished" "" "" "" "" "0" "" "" "" "" "00118066" "" "" "" "1" "" "02210" "{PMID19344451:Heinritz, 2009}" "" "" "" "Germany" "" "0" "" "" "" "" "00118067" "" "" "" "1" "" "02210" "{PMID8981950:Hecht, 1997}" "Family 5 (3 generations, 5 patients)" "" "" "" "" "0" "" "" "" "" "00118068" "" "" "" "1" "" "02210" "{PMID:Dobson-Stone 2000:10713884}" "" "" "" "" "" "0" "" "" "white" "" "00118069" "" "" "" "1" "" "02210" "{PMID:Dobson-Stone 2000:10713884}" "" "" "" "" "" "0" "" "" "white" "" "00118070" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00118071" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118072" "" "" "" "1" "" "02210" "{PMID10679937:Wuyts, 2000}" "Data from Zaletayev, unpublished" "" "" "" "" "0" "" "" "" "" "00118073" "" "" "" "1" "" "02210" "{PMID11432960:Francannet, 2001}" "Proband = A1-5 (4 patients in family)" "" "" "France" "" "0" "" "" "" "" "00118074" "" "" "" "1" "" "02210" "{PMID:Pei 2010:21039224}" "Family 3 (2 generations; 3 patients)\r\n(+ spinal cord compression; Osteochondroma on vertebra T4)" "" "" "China" "" "0" "" "" "" "" "00118075" "" "" "" "1" "" "02210" "{PMID:Dobson-Stone 2000:10713884}" "" "" "" "" "" "0" "" "" "white" "" "00118076" "" "" "" "1" "" "02210" "{PMID11432960:Francannet, 2001}" "Proband = A1-6 (8 patients in family)" "" "" "France" "" "0" "" "" "" "" "00118077" "" "" "" "1" "" "02212" "Pedrini, not yet published" "728000" "" "" "Italy" "" "0" "" "" "" "" "00118078" "" "" "" "1" "" "02210" "{PMID11432960:Francannet, 2001}" "Proband = A1-7 (18 patients in family)" "" "" "France" "" "0" "" "" "" "" "00118079" "" "" "" "1" "" "02210" "{PMID:Dobson-Stone 2000:10713884}" "" "" "" "" "" "0" "" "" "white" "" "00118080" "" "" "" "1" "" "02210" "{PMID10441575:Bovée, 1999}" "" "" "" "" "" "0" "" "" "" "" "00118081" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "United States" "" "0" "" "" "white" "" "00118082" "" "" "" "1" "" "02210" "{PMID16088908:Pedrini, 2005}" "" "F" "" "Italy" "" "0" "" "" "" "" "00118083" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Spain" "" "0" "" "" "" "" "00118084" "" "" "" "1" "" "02210" "{PMID16088908:Pedrini, 2005}" "" "" "" "Italy" "" "0" "" "" "" "" "00118085" "" "" "" "1" "" "02210" "{PMID11432960:Francannet, 2001}" "Proband = A1-8 (6 patients in family)" "" "" "France" "" "0" "" "" "" "" "00118086" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Spain" "" "0" "" "" "" "" "00118087" "" "" "" "1" "" "02210" "{PMID8981950:Hecht, 1997}" "This deletion was found in chondrosarcoma DNA, but not in constututional DNA. It\'s a somatic mutation. Patient had no MO)" "" "" "" "" "0" "" "" "" "" "00118088" "" "" "" "1" "" "02210" "{PMID18330718:Sfar, 2009}" "" "" "" "Tunisia" "" "0" "" "" "" "" "00118089" "" "" "" "1" "" "02217" "{PMID18330718:Sfar, 2009}" "" "F" "" "Tunisia" "" "0" "" "" "Tunisian" "" "00118090" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00118091" "" "" "" "1" "" "02210" "{PMID18165274:Jennes, 2008}" "" "" "" "Morocco" "" "0" "" "" "" "" "00118092" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Belgium" "" "0" "" "" "white" "" "00118093" "" "" "" "1" "" "02210" "{PMID16088908:Pedrini, 2005}" "" "" "" "Italy" "" "0" "" "" "" "" "00118094" "" "" "" "1" "" "02210" "{PMID11432960:Francannet, 2001}" "" "" "" "France" "" "0" "" "" "" "" "00118095" "" "" "" "1" "" "02210" "{PMID18165274:Jennes, 2008}" "" "" "" "Spain" "" "0" "" "" "" "" "00118096" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00118097" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "Norway" "" "0" "" "" "white" "" "00118098" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "F" "" "Italy" "" "0" "" "" "" "" "00118099" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "United States" "" "0" "" "" "white" "" "00118100" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118101" "" "" "" "1" "" "02210" "{PMID10480354:Xu, 1999}" "" "" "" "China" "" "0" "" "" "Asian" "" "00118102" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "France" "" "0" "" "" "" "" "00118104" "" "" "" "1" "" "02210" "{PMID9463333:Wuyts, 1998}" "" "" "" "Italy" "" "0" "" "" "white" "" "00118105" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118106" "" "" "" "1" "" "02210" "{PMID9463333:Wuyts, 1998}" "" "" "" "Belgium" "" "0" "" "" "white" "" "00118107" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00118108" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00118109" "" "" "" "1" "" "02210" "{PMID9463333:Wuyts, 1998}" "" "" "" "Netherlands" "" "0" "" "" "white" "" "00118110" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Denmark" "" "0" "" "" "" "" "00118111" "" "" "" "1" "" "02210" "{PMID11169766:Bernard, 2001}" "" "" "" "" "" "0" "" "" "" "" "00118112" "" "" "" "1" "" "02210" "{PMID12239711:Hall, 2002}" "" "" "" "" "" "0" "" "" "" "" "00118113" "" "" "" "1" "" "02210" "{PMID18165274:Jennes, 2008}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00118114" "" "" "" "1" "" "02210" "{PMID11169766:Bernard, 2001}" "" "" "" "" "" "0" "" "" "" "" "00118115" "" "" "" "1" "" "02210" "{PMID11170095:Seki, 2001}" "" "" "" "Japan" "" "0" "" "" "Asian" "" "00118116" "" "" "" "1" "" "02210" "{PMID19839753:Li, 2009}" "" "" "" "China" "" "0" "" "" "China" "" "00118117" "" "" "" "1" "" "02210" "{PMID12490068:Shi, 2002}" "" "" "" "Taiwan" "" "0" "" "" "Asian" "" "00118118" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "Canada" "" "0" "" "" "white" "" "00118119" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118120" "" "" "" "1" "" "02213" "Casey, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118121" "" "" "" "1" "" "02210" "{PMID11170095:Seki, 2001}" "" "" "" "Japan" "" "0" "" "" "Asian" "" "00118122" "" "" "" "1" "" "02210" "{PMID12239711:Hall, 2002}" "" "" "" "" "" "0" "" "" "" "" "00118123" "" "" "" "1" "" "02210" "{PMID11432960:Francannet, 2001}" "" "" "" "France" "" "0" "" "" "" "" "00118124" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Denmark" "" "0" "" "" "" "" "00118125" "" "" "" "1" "" "02210" "{PMID19839753:Li, 2009}" "" "" "" "China" "" "0" "" "" "China" "" "00118126" "" "" "" "1" "" "02210" "{PMID10441575:Bovée, 1999}" "" "" "" "" "" "0" "" "" "" "" "00118127" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Belgium" "" "0" "" "" "" "" "00118128" "" "" "" "1" "" "02210" "{PMID17301954:Signori, 2007}" "" "" "" "Italy" "" "0" "" "" "" "" "00118129" "" "" "" "1" "" "02210" "{PMID11432960:Francannet, 2001}" "" "" "" "France" "" "0" "" "" "" "" "00118130" "" "" "" "1" "" "02210" "{PMID11432960:Francannet, 2001}" "" "" "" "France" "" "0" "" "" "" "" "00118131" "" "" "" "1" "" "02210" "{PMID8981950:Hecht, 1997}" "" "" "" "" "" "0" "" "" "" "" "00118132" "" "" "" "1" "" "02210" "{PMID8981950:Hecht, 1997}" "" "" "" "" "" "0" "" "" "" "" "00118133" "" "" "" "1" "" "02210" "{PMID:Dobson-Stone 2000:10713884}" "" "" "" "" "" "0" "" "" "white" "" "00118134" "" "" "" "1" "" "02213" "Casey, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118135" "" "" "" "1" "" "02213" "Casey, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118136" "" "" "" "1" "" "02216" "" "" "" "" "" "" "0" "" "" "" "" "00118137" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Denmark" "" "0" "" "" "" "" "00118138" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118139" "" "" "" "1" "" "02210" "{PMID18976157:Kojima, 2008}" "" "" "" "Japan" "" "0" "" "" "Asian" "" "00118140" "" "" "" "1" "" "02210" "{PMID10679937:Wuyts, 2000}" "Data from Zaletayev, unpublished" "" "" "" "" "0" "" "" "" "" "00118141" "" "" "" "1" "" "02214" "Asteggiano, not yet published" "" "" "" "Italy;Argentina" "" "0" "" "" "" "" "00118142" "" "" "" "1" "" "02210" "{PMID19344451:Heinritz, 2009}" "" "" "" "Germany" "" "0" "" "" "" "" "00118143" "" "" "" "1" "" "02210" "{PMID18165274:Jennes, 2008}" "" "" "" "United States" "" "0" "" "" "" "" "00118144" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "M" "" "Italy" "" "0" "" "" "" "" "00118145" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Israel" "" "0" "" "" "" "" "00118146" "" "" "" "1" "" "02210" "{PMID18165274:Jennes, 2008}" "" "" "" "Spain" "" "0" "" "" "" "" "00118147" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Spain" "" "0" "" "" "" "" "00118148" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Greece" "" "0" "" "" "" "" "00118149" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00118150" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118151" "" "" "" "1" "" "02210" "{PMID17301954:Signori, 2007}" "" "" "" "Italy" "" "0" "" "" "" "" "00118152" "" "" "" "1" "" "02213" "Casey, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118153" "" "" "" "1" "" "02213" "Casey, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118154" "" "" "" "1" "" "02213" "Casey, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118155" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "M" "" "Italy" "" "0" "" "" "" "" "00118156" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118157" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118158" "" "" "" "1" "" "02210" "{PMID17767039:Li, 2007}" "" "" "" "" "" "0" "" "" "" "" "00118159" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "M" "" "Italy" "" "0" "" "" "" "" "00118160" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Belgium" "" "0" "" "" "" "" "00118161" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Spain" "" "0" "" "" "" "" "00118162" "" "" "" "1" "" "02210" "{PMID11170095:Seki, 2001}" "" "" "" "Japan" "" "0" "" "" "Asian" "" "00118163" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Netherlands" "" "0" "" "" "" "" "00118164" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118165" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118166" "" "" "" "1" "" "02210" "{PMID16638657:Chen, 2006}" "" "" "" "Taiwan" "" "0" "" "" "Asian" "" "00118167" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "F" "" "Italy" "" "0" "" "" "" "" "00118168" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Bulgaria" "" "0" "" "" "Bulgary" "" "00118169" "" "" "" "1" "" "02210" "{PMID9521425:Raskind, 1998}" "" "" "" "United States" "" "0" "" "" "" "" "00118170" "" "" "" "1" "" "02210" "{PMID9463333:Wuyts, 1998}" "" "" "" "Belgium" "" "0" "" "" "white" "" "00118171" "" "" "" "1" "" "02220" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00118172" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118173" "" "" "" "1" "" "02210" "{PMID9521425:Raskind, 1998}" "" "" "" "United States" "" "0" "" "" "" "" "00118174" "" "" "" "1" "" "02152" "Bakker, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118175" "" "" "" "1" "" "02214" "Asteggiano, not yet published" "" "" "" "Italy; Argentina" "" "0" "" "" "" "" "00118176" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "F" "" "Italy" "" "0" "" "" "" "" "00118177" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "United States" "" "0" "" "" "" "" "00118178" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118179" "" "" "" "1" "" "02210" "{PMID10679937:Wuyts, 2000}" "Data from Zaletayev, unpublished" "" "" "" "" "0" "" "" "" "" "00118180" "" "" "" "1" "" "02216" "" "" "M" "" "" "" "0" "" "" "" "" "00118181" "" "" "" "1" "" "02210" "{PMID16088908:Pedrini, 2005}" "" "" "" "Italy" "" "0" "" "" "" "" "00118182" "" "" "" "1" "" "02152" "Bakker, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118183" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118184" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Denmark" "" "0" "" "" "" "" "00118185" "" "" "" "1" "" "02210" "{PMID17301954:Signori, 2007}" "" "" "" "Italy" "" "0" "" "" "" "" "00118186" "" "" "" "1" "" "02214" "Asteggiano, not yet published" "" "M" "" "Argentina" "" "0" "" "" "" "" "00118187" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118188" "" "" "" "1" "" "02210" "{PMID10679937:Wuyts, 2000}" "Data from Zaletayev, unpublished" "" "" "" "" "0" "" "" "" "" "00118189" "" "" "" "1" "" "02210" "{PMID17301954:Signori, 2007}" "" "" "" "Italy" "" "0" "" "" "" "" "00118190" "" "" "" "1" "" "02210" "{PMID10441575:Bovée, 1999}" "Demonstrated an obvious EXT phenotype and had a family history of knee operations." "" "" "" "" "0" "" "" "" "" "00118191" "" "" "" "1" "" "02152" "Bakker, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118192" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Netherlands" "" "0" "" "" "" "" "00118193" "" "" "" "1" "" "02210" "{PMID15253765:Faiyaz-Ul-Haque, 2004}" "HME-Karachi: MO + Bilateral overriding of single toes (4 generations, 20 patients)" "" "" "Pakistan" "" "0" "" "" "" "" "00118194" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00118195" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Greece" "" "0" "" "" "" "" "00118196" "" "" "" "1" "" "02210" "{PMID19344451:Heinritz, 2009}" "" "" "" "Germany" "" "0" "" "" "" "" "00118197" "" "" "" "1" "" "02210" "{PMID:Dobson-Stone 2000:10713884}" "" "" "" "" "" "0" "" "" "white" "" "00118198" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "United States" "" "0" "" "" "" "" "00118199" "" "" "" "1" "" "02210" "{PMID17301954:Signori, 2007}" "" "" "" "Italy" "" "0" "" "" "" "" "00118200" "" "" "" "1" "" "02210" "{PMID15586175:Vink, 2004}" "" "" "" "" "" "0" "" "" "white" "" "00118201" "" "" "" "1" "" "02210" "{PMID18165274:Jennes, 2008}" "" "" "" "Belgium" "" "0" "" "" "" "" "00118202" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Turkey" "" "0" "" "" "" "" "00118203" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118204" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118205" "" "" "" "1" "" "02152" "Bakker, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118206" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118207" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "United States" "" "0" "" "" "" "" "00118208" "" "" "" "1" "" "02210" "{PMID15221792:White, 2004}" "" "" "" "" "" "0" "" "" "" "" "00118209" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Belgium" "" "0" "" "" "" "" "00118210" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00118211" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118212" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118213" "" "" "" "1" "" "02210" "{PMID19344451:Heinritz, 2009}" "" "" "" "Germany" "" "0" "" "" "" "" "00118214" "" "" "" "1" "" "02210" "{PMID18165274:Jennes, 2008}" "" "" "" "Belgium" "" "0" "" "" "white" "" "00118215" "" "" "" "1" "" "02210" "{PMID18165274:Jennes, 2008}" "" "" "" "Spain" "" "0" "" "" "" "" "00118216" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "United States" "" "0" "" "" "" "" "00118217" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Belgium" "" "0" "" "" "" "" "00118218" "" "" "" "1" "" "02210" "{PMID:Pei 2010:21039224}" "" "" "" "China" "" "0" "" "" "" "" "00118219" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118220" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "United States" "" "0" "" "" "white" "" "00118221" "" "" "" "1" "" "02210" "{PMID9326317:Philippe, 1997}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00118223" "" "" "" "1" "" "02210" "{PMID16088908:Pedrini, 2005}" "" "" "" "Italy" "" "0" "" "" "" "" "00118224" "" "" "" "1" "" "02210" "{PMID9463333:Wuyts, 1998}" "" "" "" "Belgium" "" "0" "" "" "white" "" "00118225" "" "" "" "1" "" "02210" "{PMID9326317:Philippe, 1997}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00118226" "" "" "" "1" "" "02210" "{PMID:Dobson-Stone 2000:10713884}" "" "" "" "" "" "0" "" "" "white" "" "00118227" "" "" "" "1" "" "02210" "{PMID11432960:Francannet, 2001}" "" "" "" "France" "" "0" "" "" "" "" "00118228" "" "" "" "1" "" "02210" "{PMID11432960:Francannet, 2001}" "" "" "" "France" "" "0" "" "" "" "" "00118229" "" "" "" "1" "" "02210" "{PMID11432960:Francannet, 2001}" "" "" "" "France" "" "0" "" "" "" "" "00118230" "" "" "" "1" "" "02210" "{PMID12239711:Hall, 2002}" "" "" "" "" "" "0" "" "" "" "" "00118231" "" "" "" "1" "" "02210" "{PMID16088908:Pedrini, 2005}" "" "" "" "Italy" "" "0" "" "" "" "" "00118232" "" "" "" "1" "" "02210" "{PMID15586175:Vink, 2004}" "" "" "" "" "" "0" "" "" "white" "" "00118233" "" "" "" "1" "" "02210" "{PMID17301954:Signori, 2007}" "" "" "" "Italy" "" "0" "" "" "" "" "00118234" "" "" "" "1" "" "02210" "{PMID17301954:Signori, 2007}" "" "" "" "Italy" "" "0" "" "" "" "" "00118235" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Germany" "" "0" "" "" "" "" "00118236" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118237" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Switzerland" "" "0" "" "" "" "" "00118238" "" "" "" "1" "" "02152" "Bakker, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118239" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Albania" "" "0" "" "" "" "" "00118240" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118241" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118242" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118243" "" "" "" "1" "" "02213" "Casey, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118244" "" "" "" "1" "" "02213" "Casey, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118245" "" "" "" "1" "" "02213" "Casey, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118246" "" "" "" "1" "" "02210" "{PMID17589361:Alvarez, 2007}" "" "" "" "" "" "0" "" "" "" "" "00118247" "" "" "" "1" "" "02210" "{PMID9521425:Raskind, 1998}" "" "" "" "United States" "" "0" "" "" "" "" "00118248" "" "" "" "1" "" "02210" "{PMID9521425:Raskind, 1998}" "" "" "" "United States" "" "0" "" "" "" "" "00118249" "" "" "" "1" "" "02210" "{PMID:Dobson-Stone 2000:10713884}" "" "" "" "" "" "0" "" "" "white" "" "00118250" "" "" "" "1" "" "02210" "{PMID11170095:Seki, 2001}" "" "" "" "Japan" "" "0" "" "" "Asian" "" "00118251" "" "" "" "1" "" "02210" "{PMID16088908:Pedrini, 2005}" "" "" "" "Italy" "" "0" "" "" "" "" "00118252" "" "" "" "1" "" "02210" "{PMID15586175:Vink, 2004}" "" "" "" "" "" "0" "" "" "white" "" "00118253" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "" "" "0" "" "" "white" "" "00118254" "" "" "" "1" "" "02210" "{PMID17301954:Signori, 2007}" "" "" "" "Italy" "" "0" "" "" "" "" "00118255" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Belgium" "" "0" "" "" "white" "" "00118256" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Belgium" "" "0" "" "" "white" "" "00118257" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118258" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118259" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118260" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118261" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118262" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118263" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118264" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118265" "" "" "" "1" "" "02212" "{PMID16088908:Pedrini, 2005}" "" "" "" "Italy" "" "0" "" "" "" "" "00118266" "" "" "" "1" "" "02213" "Casey, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118267" "" "" "" "1" "" "02213" "Casey, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118268" "" "" "" "1" "" "02213" "Casey, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118269" "" "" "" "1" "" "02213" "Casey, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118270" "" "" "" "1" "" "02213" "Casey, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118271" "" "" "" "1" "" "02210" "{PMID16879194:Alvarez, 2006}" "" "" "" "India" "" "0" "" "" "" "" "00118272" "" "" "" "1" "" "02210" "{PMID17589361:Alvarez, 2007}" "" "" "" "" "" "0" "" "" "" "" "00118273" "" "" "" "1" "" "02210" "{PMID17589361:Alvarez, 2007}" "" "" "" "" "" "0" "" "" "" "" "00118274" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "F" "" "Italy" "" "0" "" "" "" "" "00118275" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Spain" "" "0" "" "" "" "" "00118276" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118277" "" "" "" "1" "" "02210" "{PMID8981950:Hecht, 1997}" "" "" "" "" "" "0" "" "" "" "" "00118278" "" "" "" "1" "" "02210" "{PMID:Dobson-Stone 2000:10713884}" "" "" "" "" "" "0" "" "" "white" "" "00118279" "" "" "" "1" "" "02210" "{PMID11170095:Seki, 2001}" "" "" "" "Japan" "" "0" "" "" "Asian" "" "00118280" "" "" "" "1" "" "02210" "{PMID11170095:Seki, 2001}" "" "" "" "Japan" "" "0" "" "" "Asian" "" "00118281" "" "" "" "1" "" "02210" "{PMID11170095:Seki, 2001}" "" "" "" "Japan" "" "0" "" "" "Asian" "" "00118282" "" "" "" "1" "" "02210" "{PMID18330718:Sfar, 2009}" "" "" "" "Tunisia" "" "0" "" "" "" "" "00118283" "" "" "" "1" "" "02210" "{PMID18165274:Jennes, 2008}" "" "" "" "Greece" "" "0" "" "" "" "" "00118284" "" "" "" "1" "" "02210" "{PMID18165274:Jennes, 2008}" "" "" "" "Germany" "" "0" "" "" "" "" "00118285" "" "" "" "1" "" "02210" "{PMID18165274:Jennes, 2008}" "" "" "" "Denmark" "" "0" "" "" "" "" "00118286" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "United States" "" "0" "" "" "" "" "00118287" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Norway" "" "0" "" "" "white" "" "00118288" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118289" "" "" "" "1" "" "02152" "Bakker, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118290" "" "" "" "1" "" "02152" "Bakker, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118291" "" "" "" "1" "" "02152" "Bakker, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118292" "" "" "" "1" "" "02152" "Bakker, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118293" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118294" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118295" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118296" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "M" "" "Italy" "" "0" "" "" "" "" "00118297" "" "" "" "1" "" "02213" "Casey, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118298" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00118299" "" "" "" "1" "" "02152" "Bakker, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118300" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118301" "" "" "" "1" "" "02210" "{PMID15586175:Vink, 2004}" "" "" "" "" "" "0" "" "" "white" "" "00118302" "" "" "" "1" "" "02152" "Bakker, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118303" "" "" "" "1" "" "02210" "{PMID11170095:Seki, 2001}" "" "" "" "Japan" "" "0" "" "" "Asian" "" "00118304" "" "" "" "1" "" "02210" "{PMID17301954:Signori, 2007}" "" "" "" "Italy" "" "0" "" "" "" "" "00118305" "" "" "" "1" "" "02152" "Bakker, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118306" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118307" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118308" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Spain" "" "0" "" "" "" "" "00118309" "" "" "" "1" "" "02214" "Asteggiano, not yet published" "" "" "" "Argentina" "" "0" "" "" "" "" "00118310" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00118311" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118312" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "M" "" "Italy" "" "0" "" "" "" "" "00118313" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118314" "" "" "" "1" "" "02210" "{PMID9150727:Wells, 1997}" "" "" "" "United States" "" "0" "" "" "" "" "00118315" "" "" "" "1" "" "02210" "{PMID15586175:Vink, 2004}" "" "" "" "" "" "0" "" "" "white" "" "00118316" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00118317" "" "" "" "1" "" "02210" "{PMID17301954:Signori, 2007}" "" "" "" "Italy" "" "0" "" "" "" "" "00118318" "" "" "" "1" "" "02210" "{PMID18165274:Jennes, 2008}" "" "" "" "Spain" "" "0" "" "" "" "" "00118319" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Ireland" "" "0" "" "" "white" "" "00118320" "" "" "" "1" "" "02210" "{PMID17301954:Signori, 2007}" "" "" "" "Italy" "" "0" "" "" "" "" "00118321" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Bulgaria" "" "0" "" "" "Bulgary" "" "00118322" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118323" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118324" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Bulgaria" "" "0" "" "" "Bulgary" "" "00118325" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Belgium" "" "0" "" "" "" "" "00118326" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "France" "" "0" "" "" "" "" "00118327" "" "" "" "1" "" "02210" "{PMID17301954:Signori, 2007}" "" "" "" "Italy" "" "0" "" "" "" "" "00118328" "" "" "" "1" "" "02210" "{PMID:Dobson-Stone 2000:10713884}" "" "" "" "" "" "0" "" "" "" "" "00118329" "" "" "" "1" "" "02210" "{PMID:Dobson-Stone 2000:10713884}" "" "" "" "" "" "0" "" "" "white" "" "00118330" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118331" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "M" "" "Italy" "" "0" "" "" "" "" "00118332" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118333" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Spain" "" "0" "" "" "" "" "00118334" "" "" "" "1" "" "02210" "{PMID9521425:Raskind, 1998}" "" "" "" "United States" "" "0" "" "" "" "" "00118335" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118336" "" "" "" "1" "" "02210" "{PMID18810975:Foroughmand, 2008}" "" "" "" "Iran" "" "0" "" "" "" "" "00118337" "" "" "" "1" "" "02152" "Bakker, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118338" "" "" "" "1" "" "02152" "Bakker, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118339" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "New Zealand" "" "0" "" "" "" "" "00118340" "" "" "" "1" "" "02152" "Bakker, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118341" "" "" "" "1" "" "02210" "{PMID9326317:Philippe, 1997}" "" "" "" "Philippines" "" "0" "" "" "" "" "00118342" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118343" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118344" "" "" "" "1" "" "02152" "Bakker, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118345" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118346" "" "" "" "1" "" "02210" "{PMID11170095:Seki, 2001}" "" "" "" "Japan" "" "0" "" "" "Asian" "" "00118347" "" "" "" "1" "" "02210" "{PMID15586175:Vink, 2004}" "" "" "" "" "" "0" "" "" "white" "" "00118348" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00118349" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Israel" "" "0" "" "" "" "" "00118350" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118351" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "F" "" "Italy" "" "0" "" "" "" "" "00118352" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118353" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "India" "" "0" "" "" "" "" "00118354" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118355" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118356" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "United States" "" "0" "" "" "" "" "00118357" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Spain" "" "0" "" "" "" "" "00118358" "" "" "" "1" "" "02210" "{PMID17301954:Signori, 2007}" "" "" "" "Italy" "" "0" "" "" "" "" "00118359" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118360" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00118361" "" "" "" "1" "" "02210" "{PMID12110435:Hecht, 2002}" "Mutation not in constitutional DNA" "" "" "" "" "0" "" "" "" "" "00118362" "" "" "" "1" "" "02210" "{PMID11170095:Seki, 2001}" "" "" "" "Japan" "" "0" "" "" "Asian" "" "00118363" "" "" "" "1" "" "02210" "{PMID:Dobson-Stone 2000:10713884}" "" "" "" "" "" "0" "" "" "white" "" "00118364" "" "" "" "1" "" "02210" "{PMID16088908:Pedrini, 2005}" "" "" "" "Italy" "" "0" "" "" "" "" "00118365" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118366" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Israel" "" "0" "" "" "" "" "00118367" "" "" "" "1" "" "02210" "{PMID11668521:Gigante, 2001}" "" "" "" "Italy" "" "0" "" "" "white" "" "00118368" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "" "" "Canada" "" "0" "" "" "" "" "00118369" "" "" "" "1" "" "02210" "{PMID9521425:Raskind, 1998}" "" "" "" "United States" "" "0" "" "" "" "" "00118370" "" "" "" "1" "" "02210" "{PMID9521425:Raskind, 1998}" "" "" "" "United States" "" "0" "" "" "" "" "00118371" "" "" "" "1" "" "02210" "{PMID11170095:Seki, 2001}" "" "" "" "Japan" "" "0" "" "" "Asian" "" "00118372" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Belgium" "" "0" "" "" "" "" "00118373" "" "" "" "1" "" "02152" "Bakker, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118374" "" "" "" "1" "" "02152" "Bakker, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118375" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118376" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "F" "" "Italy" "" "0" "" "" "" "" "00118377" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "M" "" "Italy" "" "0" "" "" "" "" "00118378" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "" "" "0" "" "" "" "" "00118379" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Spain" "" "0" "" "" "" "" "00118380" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Belgium" "" "0" "" "" "white" "" "00118381" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "India" "" "0" "" "" "" "" "00118382" "" "" "" "1" "" "02210" "{PMID16088908:Pedrini, 2005}" "" "" "" "Italy" "" "0" "" "" "" "" "00118383" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118384" "" "" "" "1" "" "02210" "{PMID15586175:Vink, 2004}" "" "" "" "" "" "0" "" "" "white" "" "00118385" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Belgium" "" "0" "" "" "" "" "00118386" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118387" "" "" "" "1" "" "02210" "{PMID16088908:Pedrini, 2005}" "" "" "" "" "" "0" "" "" "" "" "00118388" "" "" "" "1" "" "02172" "" "" "M" "" "" "" "0" "" "" "" "" "00118389" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Poland" "" "0" "" "" "" "" "00118390" "" "" "" "1" "" "02210" "{PMID16088908:Pedrini, 2005}" "" "" "" "Italy" "" "0" "" "" "" "" "00118391" "" "" "" "1" "" "02210" "{PMID17301954:Signori, 2007}" "" "" "" "Italy" "" "0" "" "" "" "" "00118392" "" "" "" "1" "" "02210" "{PMID16088908:Pedrini, 2005}" "" "" "" "Italy" "" "0" "" "" "" "" "00118393" "" "" "" "1" "" "02210" "{PMID18165274:Jennes, 2008}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00118394" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118395" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00118396" "" "" "" "1" "" "02210" "{PMID:Dobson-Stone 2000:10713884}" "" "" "" "" "" "0" "" "" "" "" "00118397" "" "" "" "1" "" "02210" "{PMID:Dobson-Stone 2000:10713884}" "" "" "" "" "" "0" "" "" "white" "" "00118398" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118399" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Turkey" "" "0" "" "" "" "" "00118400" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118401" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118402" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118403" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118404" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118405" "" "" "" "1" "" "02213" "Casey, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118406" "" "" "" "1" "" "02210" "{PMID17301954:Signori, 2007}" "" "" "" "Italy" "" "0" "" "" "" "" "00118407" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Norway" "" "0" "" "" "Vietnam" "" "00118408" "" "" "" "1" "" "02210" "{PMID11668521:Gigante, 2001}" "" "" "" "Italy" "" "0" "" "" "white" "" "00118409" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118410" "" "" "" "1" "" "02210" "{PMID17301954:Signori, 2007}" "" "" "" "Italy" "" "0" "" "" "" "" "00118411" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118412" "" "" "" "1" "" "02210" "{PMID11170095:Seki, 2001}" "" "" "" "Japan" "" "0" "" "" "Asian" "" "00118413" "" "" "" "1" "" "02152" "Bakker, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118414" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118415" "" "" "" "1" "" "02210" "{PMID17301954:Signori, 2007}" "" "" "" "Italy" "" "0" "" "" "" "" "00118416" "" "" "" "1" "" "02152" "Bakker, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118417" "" "" "" "1" "" "02210" "{PMID18165274:Jennes, 2008}" "" "" "" "Germany" "" "0" "" "" "" "" "00118418" "" "" "" "1" "" "02210" "{PMID9521425:Raskind, 1998}" "" "" "" "United States" "" "0" "" "" "" "" "00118419" "" "" "" "1" "" "02210" "{PMID17301954:Signori, 2007}" "" "" "" "Italy" "" "0" "" "" "" "" "00118420" "" "" "" "1" "" "02210" "{PMID11432960:Francannet, 2001}" "" "" "" "France" "" "0" "" "" "" "" "00118421" "" "" "" "1" "" "02210" "{PMID18165274:Jennes, 2008}" "" "" "" "Mallorca" "" "0" "" "" "" "" "00118422" "" "" "" "1" "" "02210" "{PMID9463333:Wuyts, 1998}" "" "" "" "Turkey" "" "0" "" "" "" "" "00118423" "" "" "" "1" "" "02210" "{PMID:Dobson-Stone 2000:10713884}" "" "" "" "" "" "0" "" "" "white" "" "00118424" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118425" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118426" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "United States" "" "0" "" "" "" "" "00118427" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118428" "" "" "" "1" "" "02210" "{PMID12490068:Shi, 2002}" "" "" "" "Taiwan" "" "0" "" "" "Asian" "" "00118429" "" "" "" "1" "" "02210" "{PMID18976157:Kojima, 2008}" "" "" "" "Japan" "" "0" "" "" "Asian" "" "00118430" "" "" "" "1" "" "02210" "{PMID10429361:Park, 1999}" "" "" "" "Korea" "" "0" "" "" "" "" "00118431" "" "" "" "1" "" "02152" "Bakker, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118432" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Israel" "" "0" "" "" "" "" "00118433" "" "" "" "1" "" "02210" "{PMID11432960:Francannet, 2001}" "" "" "" "France" "" "0" "" "" "" "" "00118434" "" "" "" "1" "" "02210" "{PMID9326317:Philippe, 1997}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00118435" "" "" "" "1" "" "02210" "{PMID18165274:Jennes, 2008}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00118436" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118437" "" "" "" "1" "" "02213" "Casey, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118438" "" "" "" "1" "" "02210" "{PMID17589361:Alvarez, 2007}" "" "" "" "" "" "0" "" "" "" "" "00118439" "" "" "" "1" "" "02210" "{PMID18373409: Leube, 2008}" "" "" "" "" "" "0" "" "" "" "" "00118440" "" "" "" "1" "" "02210" "{PMID9463333:Wuyts, 1998}" "" "" "" "Germany" "" "0" "" "" "white" "" "00118441" "" "" "" "1" "" "02210" "{PMID:Dobson-Stone 2000:10713884}" "" "" "" "" "" "0" "" "" "white" "" "00118442" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "United States" "" "0" "" "" "" "" "00118443" "" "" "" "1" "" "02210" "{PMID20618940:Baasanjav, 2010}" "" "M" "" "" "" "0" "" "" "Poland" "" "00118444" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00118445" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00118446" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00118447" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118448" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118449" "" "" "" "1" "" "02210" "{PMID7550340:Ahn 1995}" "" "" "" "" "" "0" "" "" "" "" "00118450" "" "" "" "1" "" "02210" "{PMID18165274:Jennes, 2008}" "" "" "" "Belgium" "" "0" "" "" "white" "" "00118451" "" "" "" "1" "" "02210" "{PMID8981950:Hecht, 1997}" "MO + Chondrosarcoma" "" "" "" "" "0" "" "" "" "" "00118452" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00118453" "" "" "" "1" "" "02210" "{PMID9521425:Raskind, 1998}" "" "" "" "United States" "" "0" "" "" "" "" "00118454" "" "" "" "1" "" "02210" "{PMID18373409: Leube, 2008}" "" "" "" "" "" "0" "" "" "" "" "00118455" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118456" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118457" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Bulgaria" "" "0" "" "" "Bulgary" "" "00118458" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118459" "" "" "" "1" "" "02210" "{PMID11432960:Francannet, 2001}" "" "" "" "France" "" "0" "" "" "" "" "00118460" "" "" "" "1" "" "02210" "{PMID9150727:Wells, 1997}" "" "" "" "United States" "" "0" "" "" "" "" "00118461" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118462" "" "" "" "1" "" "02210" "{PMID10480354:Xu, 1999}" "" "" "" "China" "" "0" "" "" "Asian" "" "00118464" "" "" "" "1" "" "02210" "{PMID:Dobson-Stone 2000:10713884}" "" "" "" "" "" "0" "" "" "white" "" "00118465" "" "" "" "1" "" "02210" "{PMID17301954:Signori, 2007}" "" "" "" "Italy" "" "0" "" "" "" "" "00118466" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Bulgaria" "" "0" "" "" "" "" "00118467" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118468" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118469" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Spain" "" "0" "" "" "" "" "00118470" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "M" "" "Italy" "" "0" "" "" "" "" "00118471" "" "" "" "1" "" "02210" "{PMID11170095:Seki, 2001}" "" "" "" "Japan" "" "0" "" "" "Asian" "" "00118472" "" "" "" "1" "" "02210" "{PMID15586175:Vink, 2004}" "" "" "" "" "" "0" "" "" "white" "" "00118473" "" "" "" "1" "" "02210" "{PMID17301954:Signori, 2007}" "" "" "" "Italy" "" "0" "" "" "" "" "00118474" "" "" "" "1" "" "02210" "{PMID17301954:Signori, 2007}" "" "" "" "Italy" "" "0" "" "" "" "" "00118475" "" "" "" "1" "" "02210" "{PMID18165274:Jennes, 2008}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00118476" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Canada" "" "0" "" "" "" "" "00118477" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118478" "" "" "" "1" "" "02213" "Casey, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118479" "" "" "" "1" "" "02213" "Casey, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118480" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00118481" "" "" "" "1" "" "02210" "{PMID7550340:Ahn, 1995}" "" "" "" "" "" "0" "" "" "" "" "00118482" "" "" "" "1" "" "02210" "{PMID7550340:Ahn, 1995}" "" "" "" "" "" "0" "" "" "" "" "00118483" "" "" "" "1" "" "02210" "{PMID9326317:Philippe, 1997}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00118484" "" "" "" "1" "" "02210" "{PMID9326317:Philippe, 1997}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00118485" "" "" "" "1" "" "02210" "{PMID9150727:Wells, 1997}" "" "" "" "United States" "" "0" "" "" "" "" "00118486" "" "" "" "1" "" "02210" "{PMID9463333:Wuyts, 1998}" "" "" "" "Belgium" "" "0" "" "" "white" "" "00118487" "" "" "" "1" "" "02210" "{PMID10480354:Xu, 1999}" "" "" "" "China" "" "0" "" "" "Asian" "" "00118488" "" "" "" "1" "" "02210" "{PMID16088908:Pedrini, 2005}" "" "" "" "Italy" "" "0" "" "" "" "" "00118489" "" "" "" "1" "" "02210" "{PMID17301954:Signori, 2007}" "" "" "" "Italy" "" "0" "" "" "" "" "00118490" "" "" "" "1" "" "02210" "{PMID17301954:Signori, 2007}" "" "" "" "Italy" "" "0" "" "" "" "" "00118491" "" "" "" "1" "" "02210" "{PMID11432960:Francannet, 2001}" "" "" "" "France" "" "0" "" "" "" "" "00118492" "" "" "" "1" "" "02210" "{PMID11432960:Francannet, 2001}" "" "" "" "France" "" "0" "" "" "" "" "00118493" "" "" "" "1" "" "02210" "{PMID18165274:Jennes, 2008}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00118494" "" "" "" "1" "" "02210" "{PMID18165274:Jennes, 2008}" "" "" "" "Belgium" "" "0" "" "" "white" "" "00118495" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Germany" "" "0" "" "" "" "" "00118496" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Turkey" "" "0" "" "" "" "" "00118497" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Bulgaria" "" "0" "" "" "" "" "00118498" "" "" "" "1" "" "02152" "Bakker, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118499" "" "" "" "1" "" "02152" "Bakker, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118500" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118501" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118502" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118503" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118504" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118505" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118506" "" "" "" "1" "" "02213" "Casey, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118507" "" "" "" "1" "" "02214" "Asteggiano, not yet published" "" "" "" "Italy; Argentina" "" "0" "" "" "" "" "00118508" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Bulgaria" "" "0" "" "" "Bulgarian" "" "00118509" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Australia" "" "0" "" "" "" "" "00118510" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Spain" "" "0" "" "" "" "" "00118511" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "" "" "Albania" "" "0" "" "" "" "" "00118512" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "F" "" "Italy" "" "0" "" "" "" "" "00118513" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Spain" "" "0" "" "" "" "" "00118514" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Belgium" "" "0" "" "" "" "" "00118515" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00118516" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "F" "" "Belgium" "" "0" "" "" "" "" "00118517" "" "" "" "1" "" "02210" "{PMID:Pei 2010:21039224}" "" "" "" "China" "" "0" "" "" "" "" "00118518" "" "" "" "1" "" "02210" "{PMID11170095:Seki, 2001}" "" "" "" "Japan" "" "0" "" "" "Asian" "" "00118519" "" "" "" "1" "" "02210" "{PMID17301954:Signori, 2007}" "" "" "" "Italy" "" "0" "" "" "" "" "00118520" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "United States" "" "0" "" "" "" "" "00118521" "" "" "" "1" "" "02210" "{PMID18165274:Jennes, 2008}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00118522" "" "" "" "1" "" "02210" "{PMID:Pei 2010:21039224}" "" "" "" "China" "" "0" "" "" "" "" "00118523" "" "" "" "1" "" "02210" "{PMID10480354:Xu, 1999}" "" "" "" "China" "" "0" "" "" "Asian" "" "00118524" "" "" "" "1" "" "02213" "Casey, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118525" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "United States" "" "0" "" "" "" "" "00118526" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "M" "" "Italy" "" "0" "" "" "" "" "00118527" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118528" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Austria" "" "0" "" "" "" "" "00118529" "" "" "" "1" "" "02210" "{PMID16088908:Pedrini, 2005}" "" "" "" "Italy" "" "0" "" "" "" "" "00118530" "" "" "" "1" "" "02213" "Casey, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118531" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Belgium" "" "0" "" "" "" "" "00118532" "" "" "" "1" "" "02210" "{PMID10671060:Wolf, 1998}" "(35 members, 21 patients)" "" "" "Finland" "" "0" "" "" "" "" "00118533" "" "" "" "1" "" "02210" "{PMID:Dobson-Stone 2000:10713884}" "" "" "" "" "" "0" "" "" "white" "" "00118534" "" "" "" "1" "" "02210" "{PMID16088908:Pedrini, 2005}" "" "" "" "Italy" "" "0" "" "" "" "" "00118535" "" "" "" "1" "" "02213" "Casey, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118536" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Canada" "" "0" "" "" "" "" "00118537" "" "" "" "1" "" "02210" "{PMID18165274:Jennes, 2008}" "" "" "" "Israel" "" "0" "" "" "" "" "00118538" "" "" "" "1" "" "02210" "{PMID15586175:Vink, 2004}" "" "" "" "" "" "0" "" "" "white" "" "00118539" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118540" "" "" "" "1" "" "02152" "Bakker, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118541" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Netherlands" "" "0" "" "" "" "" "00118542" "" "" "" "1" "" "02210" "{PMID17301954:Signori, 2007}" "" "" "" "Italy" "" "0" "" "" "" "" "00118543" "" "" "" "1" "" "02210" "{PMID19344451:Heinritz, 2009}" "" "" "" "Germany" "" "0" "" "" "" "" "00118544" "" "" "" "1" "" "02210" "{PMID18165274:Jennes, 2008}" "" "" "" "Germany" "" "0" "" "" "" "" "00118545" "" "" "" "1" "" "02210" "{PMID11432960:Francannet, 2001}" "" "" "" "France" "" "0" "" "" "" "" "00118546" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "France" "" "0" "" "" "" "" "00118547" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118548" "" "" "" "1" "" "02210" "{PMID18373409: Leube, 2008}" "" "" "" "" "" "0" "" "" "" "" "00118549" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00118550" "" "" "" "1" "" "02210" "{PMID17301954:Signori, 2007}" "" "" "" "Italy" "" "0" "" "" "" "" "00118551" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118552" "" "" "" "1" "" "02172" "" "" "F" "" "" "" "0" "" "" "" "" "00118553" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118554" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "M" "" "Italy" "" "0" "" "" "" "" "00118555" "" "" "" "1" "" "02210" "{PMID16088908:Pedrini, 2005}" "" "" "" "Italy" "" "0" "" "" "" "" "00118556" "" "" "" "1" "" "02213" "Casey, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118557" "" "" "" "1" "" "02172" "" "" "F" "" "" "" "0" "" "" "" "" "00118558" "" "" "" "1" "" "02210" "{PMID16604483:Xie, 2006}" "" "" "" "" "" "0" "" "" "" "" "00118559" "" "" "" "1" "" "02210" "{PMID16088908:Pedrini, 2005}" "" "" "" "Italy" "" "0" "" "" "" "" "00118560" "" "" "" "1" "" "02210" "{PMID18165274:Jennes, 2008}" "" "" "" "Finland" "" "0" "" "" "" "" "00118561" "" "" "" "1" "" "02210" "{PMID:Dobson-Stone 2000:10713884}" "" "" "" "" "" "0" "" "" "white" "" "00118562" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118563" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118564" "" "" "" "1" "" "02210" "{PMID11668521:Gigante, 2001}" "" "" "" "Italy" "" "0" "" "" "white" "" "00118565" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00118566" "" "" "" "1" "" "02210" "{PMID11432960:Francannet, 2001}" "" "" "" "France" "" "0" "" "" "" "" "00118567" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Portugal" "" "0" "" "" "" "" "00118568" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Germany" "" "0" "" "" "" "" "00118569" "" "" "" "1" "" "02210" "{PMID18373409: Leube, 2008}" "" "" "" "" "" "0" "" "" "" "" "00118570" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118571" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118572" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Albania" "" "0" "" "" "" "" "00118573" "" "" "" "1" "" "02210" "{PMID18165274:Jennes, 2008}" "" "" "" "Spain" "" "0" "" "" "" "" "00118574" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Belgium" "" "0" "" "" "" "" "00118575" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118576" "" "" "" "1" "" "02210" "{PMID15253765:Faiyaz-Ul-Haque, 2004}" "HME-Rawat: MO + Bilateral overriding of single toes (5 generations, 13 patients)" "" "" "Pakistan" "" "0" "" "" "" "" "00118577" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Spain" "" "0" "" "" "" "" "00118578" "" "" "" "1" "" "02210" "{PMID9463333:Wuyts, 1998}" "" "" "" "Belgium" "" "0" "" "" "white" "" "00118579" "" "" "" "1" "" "02210" "{PMID18165274:Jennes, 2008}" "" "" "" "Turkey" "" "0" "" "" "" "" "00118580" "" "" "" "1" "" "02210" "{PMID18165274:Jennes, 2008}" "" "" "" "France" "" "0" "" "" "" "" "00118581" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Bulgaria" "" "0" "" "" "Bulgarian" "" "00118582" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Bulgaria" "" "0" "" "" "Bulgarian" "" "00118583" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118584" "" "" "" "1" "" "02210" "{PMID15586175:Vink, 2004}" "" "" "" "" "" "0" "" "" "white" "" "00118585" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Netherlands" "" "0" "" "" "" "" "00118586" "" "" "" "1" "" "02210" "{PMID19344451:Heinritz, 2009}" "" "" "" "Germany" "" "0" "" "" "" "" "00118587" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118588" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Belgium" "" "0" "" "" "" "" "00118589" "" "" "" "1" "" "02210" "{PMID16088908:Pedrini, 2005}" "" "" "" "Italy" "" "0" "" "" "" "" "00118590" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "F" "" "Italy" "" "0" "" "" "" "" "00118591" "" "" "" "1" "" "02213" "Casey, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118592" "" "" "" "1" "" "02210" "{PMID18165274:Jennes, 2008}" "" "" "" "Belgium" "" "0" "" "" "white" "" "00118593" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Belgium" "" "0" "" "" "white" "" "00118594" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118595" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118596" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "F" "" "Moldova" "" "0" "" "" "" "" "00118597" "" "" "" "1" "" "02210" "{PMID18165274:Jennes, 2008}" "" "" "" "Hungary" "" "0" "" "" "" "" "00118598" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Denmark" "" "0" "" "" "white" "" "00118599" "" "" "" "1" "" "02210" "{PMID15985493:Lemos, 2005}" "Family with MO + osteoporosis (3 generations, 14 patients)" "" "" "Austria" "" "0" "" "" "white" "" "00118600" "" "" "" "1" "" "02210" "{PMID16879194:Alvarez, 2006}" "" "" "" "Germany" "" "0" "" "" "" "" "00118601" "" "" "" "1" "" "02210" "{PMID12032595:Li, 2002}" "MO + Autism associated with mental retardation 2 generations, 2 patients)" "" "" "" "" "0" "" "" "" "" "00118602" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00118603" "" "" "" "1" "" "02210" "{PMID11432960:Francannet, 2001}" "" "" "" "France" "" "0" "" "" "" "" "00118604" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Peru" "" "0" "" "" "" "" "00118605" "" "" "" "1" "" "02210" "{PMID11432960:Francannet, 2001}" "" "" "" "France" "" "0" "" "" "" "" "00118606" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118607" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118608" "" "" "" "1" "" "02210" "{PMID9326317:Philippe 1997}" "" "" "" "" "" "0" "" "" "" "" "00118609" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "M" "" "United States" "" "0" "" "" "" "" "00118610" "" "" "" "1" "" "02210" "{PMID11432960:Francannet, 2001}" "" "" "" "France" "" "0" "" "" "" "" "00118611" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Iran" "" "0" "" "" "" "" "00118612" "" "" "" "1" "" "02210" "{PMID11432960:Francannet, 2001}" "" "" "" "France" "" "0" "" "" "" "" "00118613" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Denmark" "" "0" "" "" "" "" "00118614" "" "" "" "1" "" "02152" "Bakker, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118615" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Mallorca" "" "0" "" "" "" "" "00118616" "" "" "" "1" "" "02210" "{PMID11432960:Francannet, 2001}" "" "" "" "France" "" "0" "" "" "" "" "00118617" "" "" "" "1" "" "02152" "Bakker, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118618" "" "" "" "1" "" "02210" "{PMID19344451:Heinritz, 2009}" "" "" "" "Germany" "" "0" "" "" "" "" "00118619" "" "" "" "1" "" "02210" "{PMID11170095:Seki, 2001}" "" "" "" "Japan" "" "0" "" "" "Asian" "" "00118620" "" "" "" "1" "" "02210" "{PMID16088908:Pedrini, 2005}" "" "" "" "Italy" "" "0" "" "" "" "" "00118621" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118622" "" "" "" "1" "" "02210" "{PMID:Dobson-Stone 2000:10713884}" "" "" "" "" "" "0" "" "" "white" "" "00118623" "" "" "" "1" "" "02210" "{PMID18165274:Jennes, 2008}" "" "" "" "Turkey" "" "0" "" "" "" "" "00118624" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118625" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118626" "" "" "" "1" "" "02210" "{PMID9150727:Wells, 1997}" "" "" "" "United States" "" "0" "" "" "" "" "00118627" "" "" "" "1" "" "02215" "" "" "M" "" "" "" "0" "" "" "" "" "00118628" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "F" "" "Italy" "" "0" "" "" "" "" "00118629" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "M" "" "Belgium" "" "0" "" "" "" "" "00118630" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "M" "" "Belgium" "" "0" "" "" "" "" "00118631" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Belgium" "" "0" "" "" "Belgium" "" "00118632" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118633" "" "" "" "1" "" "02210" "{PMID15586175:Vink, 2004}" "" "" "" "" "" "0" "" "" "white" "" "00118634" "" "" "" "1" "" "02210" "{PMID19344451:Heinritz, 2009}" "" "" "" "Germany" "" "0" "" "" "" "" "00118635" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "M" "" "Belgium" "" "0" "" "" "" "" "00118636" "" "" "" "1" "" "02210" "{PMID12110435:Hecht, 2002}" "" "" "" "" "" "0" "" "" "" "" "00118637" "" "" "" "1" "" "02210" "{PMID12239711:Hall, 2002}" "" "" "" "" "" "0" "" "" "" "" "00118638" "" "" "" "1" "" "02210" "{PMID9521425:Raskind, 1998}" "" "" "" "United States" "" "0" "" "" "" "" "00118639" "" "" "" "1" "" "02152" "Bakker, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118640" "" "" "" "1" "" "02152" "Bakker, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118641" "" "" "" "1" "" "02210" "{PMID11170095:Seki, 2001}" "" "" "" "Japan" "" "0" "" "" "Asian" "" "00118642" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Iran" "" "0" "" "" "" "" "00118643" "" "" "" "1" "" "02210" "{PMID:Pei 2010:21039224}" "(+ brachydactyly)" "" "" "China" "" "0" "" "" "" "" "00118644" "" "" "" "1" "" "02210" "{PMID17301954:Signori, 2007}" "" "" "" "Italy" "" "0" "" "" "" "" "00118645" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00118646" "" "" "" "1" "" "02210" "{PMID19344451:Heinritz, 2009}" "" "" "" "Germany" "" "0" "" "" "" "" "00118647" "" "" "" "1" "" "02210" "{PMID20578942:Wen, 2010}" "" "" "" "China" "" "0" "" "" "Chinese" "" "00118648" "" "" "" "1" "" "02210" "{PMID:Dobson-Stone 2000:10713884}" "" "" "" "" "" "0" "" "" "white" "" "00118649" "" "" "" "1" "" "02210" "{PMID17301954:Signori, 2007}" "" "" "" "Italy" "" "0" "" "" "" "" "00118650" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "Sweden" "" "0" "" "" "white" "" "00118651" "" "" "" "1" "" "02210" "{PMID16088908:Pedrini, 2005}" "" "" "" "Italy" "" "0" "" "" "" "" "00118652" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118653" "" "" "" "1" "" "02152" "{PMID15586175:Vink, 2004}" "" "" "" "" "" "0" "" "" "" "" "00118654" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118655" "" "" "" "1" "" "02210" "{PMID11668521:Gigante, 2001}" "" "" "" "Italy" "" "0" "" "" "white" "" "00118656" "" "" "" "1" "" "02210" "{PMID12239711:Hall, 2002}" "" "" "" "" "" "0" "" "" "" "" "00118657" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Sweden" "" "0" "" "" "white" "" "00118658" "" "" "" "1" "" "02215" "Pedrini, not yet published" "" "F" "" "Italy" "" "0" "" "" "" "" "00118659" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "Sweden" "" "0" "" "" "" "" "00118660" "" "" "" "1" "" "02210" "{PMID19344451:Heinritz, 2009}" "" "" "" "Germany" "" "0" "" "" "" "" "00118661" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118662" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00118663" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118664" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118665" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00118666" "" "" "" "1" "" "02210" "{PMID18165274:Jennes, 2008}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00118667" "" "" "" "1" "" "02210" "{PMID9521425:Raskind, 1998}" "" "" "" "United States" "" "0" "" "" "" "" "00118668" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "" "" "0" "" "" "" "" "00118669" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "United States" "" "0" "" "" "" "" "00118670" "" "" "" "1" "" "02212" "Pedrini, not yet published" "" "" "" "Italy" "" "0" "" "" "" "" "00118671" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "M" "" "Morocco" "" "0" "" "" "Morocoo" "" "00118672" "" "" "" "1" "" "02210" "{PMID12032595:Li, 2002}" "MO + Autism associated with mental retardation 2 generations, 2 patients)" "" "" "" "" "0" "" "" "" "" "00118673" "" "" "" "1" "" "02210" "{PMID16088908:Pedrini, 2005}" "" "" "" "Italy" "" "0" "" "" "" "" "00118674" "" "" "" "1" "" "02210" "{PMID17301954:Signori, 2007}" "" "" "" "Italy" "" "0" "" "" "" "" "00118675" "" "" "" "1" "" "02210" "{PMID11170095:Seki, 2001}" "" "" "" "Japan" "" "0" "" "" "Asian" "" "00118676" "" "" "" "1" "" "02216" "" "" "M" "" "" "" "0" "" "" "" "" "00118677" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00118678" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00118679" "" "" "" "1" "" "02210" "Jennes, not yet published" "" "M" "" "Denmark" "" "0" "" "" "" "" "00118680" "" "" "" "1" "" "02210" "{PMID17041877:Lonie, 2006}" "" "" "" "" "" "0" "" "" "" "" "00133224" "" "" "" "1" "" "02210" "{PMID:Jennes 2008:18165274}" "family" "" "" "United States" "" "0" "" "" "" "18165274-Fam156" "00133225" "" "" "" "8" "" "02210" "{PMID:Pramparo 2003:14556251}" "4-generation family, 8 affecteds (2F, 6M), miscarriages and newborn deaths" "M" "" "Italy" "" "0" "" "" "" "14556251-FamPat42" "00165193" "" "" "" "1" "" "01741" "" "" "" "" "" "" "0" "" "" "" "" "00208634" "" "" "" "2" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 2 affected" "" "-" "Italy" "" "0" "" "" "white" "FamEXT1_01_pt1" "00208635" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "F" "-" "Italy" "10y" "0" "" "" "white" "FamEXT1_02_a_pt1" "00208636" "" "" "" "2" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 2 affected" "F" "" "Italy" "10y" "0" "" "" "white" "FamEXT1_02_b_pt1" "00208637" "" "" "00208636" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "" "F" "" "Italy" "45y" "0" "" "" "white" "FamEXT1_02_b_pt2" "00208638" "" "" "" "3" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 3 affected" "F" "-" "Italy" "36y" "0" "" "" "white" "FamEXT1_03_pt1" "00208639" "" "" "00208638" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "" "M" "" "Italy" "4y" "0" "" "" "white" "FamEXT1_03_pt2" "00208640" "" "" "00208638" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "" "F" "" "Italy" "19y" "0" "" "" "white" "FamEXT1_03_pt3" "00208641" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "" "" "Italy" "" "0" "" "" "white" "FamEXT1_04_pt1" "00208642" "" "" "" "2" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 2 affected" "F" "" "Italy" "45y" "0" "" "" "white" "FamEXT1_05_pt1" "00208643" "" "" "" "4" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 4 affected" "M" "" "Italy" "18y" "0" "" "" "white" "FamEXT1_06_pt1" "00208644" "" "" "00208643" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "" "F" "" "Italy" "18y" "0" "" "" "white" "FamEXT1_06_pt2" "00208645" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "" "" "Italy" "" "0" "" "" "white" "FamEXT1_07_pt1" "00208646" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "F" "" "Italy" "47y" "0" "" "" "white" "FamEXT1_08_pt1" "00208647" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "" "" "Italy" "" "0" "" "" "white" "FamEXT1_09_pt1" "00208648" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "F" "" "Italy" "8y" "0" "" "" "white" "FamEXT1_10_a_pt1" "00208649" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "F" "" "Italy" "16y" "0" "" "" "white" "FamEXT1_10_b_pt1" "00208650" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "" "" "Italy" "" "0" "" "" "white" "FamEXT1_11_pt1" "00208651" "" "" "" "2" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 2 affected" "F" "" "Italy" "13y" "0" "" "" "white" "FamEXT1_12_pt1" "00208652" "" "" "00208651" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "" "M" "" "Italy" "37y" "0" "" "" "white" "FamEXT1_12_pt2" "00208653" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "M" "" "Italy" "7y" "0" "" "" "white" "FamEXT1_13_pt1" "00208654" "" "" "" "2" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 2 affected" "" "" "Italy" "" "0" "" "" "white" "FamEXT1_14_pt1" "00208655" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "" "" "Italy" "" "0" "" "" "white" "FamEXT1_15_pt1" "00208656" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "" "" "Italy" "" "0" "" "" "white" "FamEXT1_16_pt1" "00208657" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "" "" "Italy" "" "0" "" "" "white" "FamEXT1_17_pt1" "00208658" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "" "" "Italy" "" "0" "" "" "white" "FamEXT1_18_pt1" "00208659" "" "" "" "3" "" "02515" "{PMID:Fusco 2019:3080666}" "2 families, 3 affected" "" "" "Italy" "" "0" "" "" "white" "FamEXT1_19_pt1" "00208660" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "" "" "Italy" "" "0" "" "" "white" "FamEXT1_20_pt1" "00208661" "" "" "" "2" "" "02515" "{PMID:Fusco 2019:3080666}" "2 families, 2 affected" "M" "" "Italy" "10y" "0" "" "" "white" "FamEXT1_21_pt1" "00208662" "" "" "" "2" "" "02515" "{PMID:Fusco 2019:3080666}" "2 families, 2 affected" "" "" "Italy" "" "0" "" "" "white" "FamEXT1_22_pt1" "00208663" "" "" "" "3" "" "02515" "{PMID:Fusco 2019:3080666}" "3 families, 3 affected" "" "" "Italy" "" "0" "" "" "white" "FamEXT1_23_pt1" "00208664" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "F" "" "Italy" "17y" "0" "" "" "white" "FamEXT1_24_a_pt1" "00208665" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "M" "" "Italy" "20y" "0" "" "" "white" "FamEXT1_24_b_pt1" "00208666" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "F" "" "Italy" "12y" "0" "" "" "white" "FamEXT1_24_c_pt1" "00208667" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "F" "" "Italy" "16y" "0" "" "" "white" "FamEXT1_24_d_pt1" "00208668" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "F" "" "Italy" "50y" "0" "" "" "white" "FamEXT1_25_pt1" "00208669" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "" "" "Italy" "" "0" "" "" "white" "FamEXT1_26_pt1" "00208670" "" "" "" "2" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 2 affected" "M" "" "Italy" "15y" "0" "" "" "white" "FamEXT1_27_pt1" "00208671" "" "" "00208670" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "" "M" "" "Italy" "47y" "0" "" "" "white" "FamEXT1_27_pt2" "00208672" "" "" "" "2" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 2 affected" "F" "" "Italy" "58y" "0" "" "" "white" "FamEXT1_28_pt1" "00208673" "" "" "00208672" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "" "F" "" "Italy" "23y" "0" "" "" "white" "FamEXT1_28_pt2" "00208674" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "" "" "Italy" "" "0" "" "" "white" "FamEXT1_29_pt1" "00208675" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "M" "" "Italy" "6y" "0" "" "" "white" "FamEXT1_30_pt1" "00208676" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "M" "" "Italy" "35y" "0" "" "" "white" "FamEXT1_31_pt1" "00208677" "" "" "" "2" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 2 affected" "" "" "Italy" "" "0" "" "" "white" "FamEXT1_32_pt1" "00208678" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "M" "" "Italy" "50y" "0" "" "" "white" "FamEXT1_33_pt1" "00208679" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "" "" "Italy" "" "0" "" "" "white" "FamEXT1_34_pt1" "00208680" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "" "" "Italy" "" "0" "" "" "white" "FamEXT1_35_pt1" "00208681" "" "" "" "2" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 2 affected" "" "" "Italy" "" "0" "" "" "white" "FamEXT1_36_pt1" "00208682" "" "" "" "2" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 2 affected" "" "" "Italy" "" "0" "" "" "white" "FamEXT1_37_pt1" "00208683" "" "" "" "2" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 2 affected" "F" "" "Italy" "" "0" "" "" "white" "FamEXT1_38_pt1" "00208684" "" "" "00208683" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "" "M" "" "Italy" "65y" "0" "" "" "white" "FamEXT1_38_pt2" "00208685" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "F" "" "Italy" "7y" "0" "" "" "white" "FamEXT1_39_pt1" "00208686" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "" "" "Italy" "" "0" "" "" "white" "FamEXT1_40_pt1" "00208687" "" "" "" "2" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 2 affected" "F" "" "Italy" "23y" "0" "" "" "white" "FamEXT1_41_pt1" "00208688" "" "" "00208687" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "" "F" "" "Italy" "63y" "0" "" "" "white" "FamEXT1_41_pt2" "00208689" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "" "" "Italy" "" "0" "" "" "white" "FamEXT1_42_pt1" "00208690" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "" "" "Italy" "" "0" "" "" "white" "FamEXT1_43_pt1" "00208691" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "F" "" "Italy" "47y" "0" "" "" "white" "FamEXT1_44_pt1" "00208692" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "M" "" "Italy" "38y" "0" "" "" "white" "FamEXT1_45_pt1" "00208693" "" "" "" "3" "" "02515" "{PMID:Fusco 2019:3080666}" "2 families, 3 affected" "" "" "Italy" "" "0" "" "" "white" "FamEXT1_46_pt1" "00208694" "" "" "" "2" "" "02515" "{PMID:Fusco 2019:3080666}" "2 families, 2 affected" "" "" "Italy" "" "0" "" "" "white" "FamEXT1_47_pt1" "00208695" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "" "" "Italy" "" "0" "" "" "white" "FamEXT1_48_pt1" "00208696" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "F" "" "Italy" "13y" "0" "" "" "white" "FamEXT1_49_pt1" "00208697" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "" "" "Italy" "" "0" "" "" "white" "FamEXT1_50_pt1" "00208698" "" "" "" "2" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 2 affected" "F" "" "Italy" "26y" "0" "" "" "white" "FamEXT1_51_pt1" "00208699" "" "" "00208698" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "" "M" "" "Italy" "62y" "0" "" "" "white" "FamEXT1_51_pt2" "00208700" "" "" "" "5" "" "02515" "{PMID:Fusco 2019:3080666}" "2 families, 5 affected" "M" "" "Italy" "31y" "0" "" "" "white" "FamEXT1_52_pt1" "00208701" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "" "" "Italy" "" "0" "" "" "white" "FamEXT1_53_pt1" "00208702" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "" "" "Italy" "" "0" "" "" "white" "FamEXT1_54_pt1" "00208703" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "" "" "Italy" "" "0" "" "" "white" "FamEXT1_55_pt1" "00208704" "" "" "" "4" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 4 affected" "" "" "Italy" "" "0" "" "" "white" "FamEXT1_56_pt1" "00208705" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "M" "" "Italy" "38y" "0" "" "" "white" "FamEXT1_57_pt1" "00208706" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "" "" "Italy" "" "0" "" "" "white" "FamEXT1_58_pt1" "00208707" "" "" "" "2" "" "02515" "{PMID:Fusco 2019:3080666}" "2 families, 2 affected" "" "" "Italy" "" "0" "" "" "white" "FamEXT1_59_pt1" "00208708" "" "" "" "1" "" "02515" "{PMID:Fusco 2019:3080666}" "family, 1 affected" "F" "" "Italy" "20y" "0" "" "" "white" "FamEXT1_60_pt1" "00208709" "" "" "" "2" "" "02515" "{PMID:Fusco 2019:3080666}" "2 families, 2 affected" "M" "" "Italy" "25y" "0" "" "" "white" "FamEXT1_61_pt1" "00229928" "" "" "" "1" "" "01741" "" "" "" "" "" "" "0" "" "" "" "" "00295756" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00307254" "" "" "" "1" "" "01741" "" "" "" "" "" "" "0" "" "" "" "" "00307265" "" "" "" "4" "" "00006" "{PMID:Chen 2020:32678989}" "2-generation family, 4 affected (4M)" "M" "" "China" "" "0" "" "" "Han Chinese" "family" "00307266" "" "" "" "1" "" "00006" "{PMID:Cao 2014:24297320}" "3-generation family, 4 affected (2F, 2M)" "F;M" "" "China" "" "0" "" "" "" "FamZJ-H001" "00307698" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00331430" "" "" "" "2" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 2 affected (2F)" "F" "no" "" "" "0" "" "" "Arab" "13DG2263, 13DG2264" "00332373" "" "" "" "1" "" "00006" "{PMID:Tong 2021:33596140}" "3-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "China" "" "0" "" "" "" "Fam1" "00332375" "" "" "" "2" "" "00006" "{PMID:Tong 2021:33596140}" "2-generation family, affected father/son, unaffected heterozygous carrier parents" "M" "" "China" "" "0" "" "" "" "Fam3" "00332376" "" "" "" "2" "" "00006" "{PMID:Tong 2021:33596140}" "2-generation family, affected mother/son, unaffected heterozygous carrier parents" "F;M" "" "China" "" "0" "" "" "" "Fam4" "00382756" "" "" "" "2" "" "04167" "" "" "F" "no" "China" "?" "" "" "" "Asian" "" "00414383" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "F" "" "China" "" "0" "" "" "" "WHP50" "00428185" "" "" "" "1" "" "00006" "{PMID:Lansdon 2023:36493769}, {DOI:Lansdon 2023:10.1016/j.ajhg.2022.11.012}" "" "" "" "" "" "0" "" "" "" "EXOC4-Pat1" "00428186" "" "" "" "1" "" "00006" "{PMID:Lansdon 2023:36493769}, {DOI:Lansdon 2023:10.1016/j.ajhg.2022.11.012}" "" "" "" "" "" "0" "" "" "" "EXOC4-Pat2" "00428187" "" "" "" "1" "" "00006" "{PMID:Lansdon 2023:36493769}, {DOI:Lansdon 2023:10.1016/j.ajhg.2022.11.012}" "" "" "" "" "" "0" "" "" "" "EXOC4-Pat3" "00434426" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 810 "{{individualid}}" "{{diseaseid}}" "00081272" "01325" "00103216" "01325" "00104711" "01325" "00117963" "05318" "00117964" "05318" "00117965" "05318" "00117966" "05318" "00117967" "05318" "00117968" "05318" "00117969" "05318" "00117970" "05318" "00117971" "05318" "00117972" "05318" "00117973" "05318" "00117974" "05318" "00117978" "05318" "00117979" "05318" "00117980" "05318" "00117981" "05318" "00117982" "05318" "00117983" "05318" "00117984" "05318" "00117985" "05318" "00117986" "05318" "00117987" "05318" "00117988" "05318" "00117989" "05318" "00117990" "05318" "00117991" "05318" "00117992" "05318" "00117993" "05318" "00117994" "05318" "00117995" "05318" "00117996" "05318" "00117997" "05318" "00117998" "05318" "00117999" "05318" "00118000" "05318" "00118001" "05318" "00118002" "05318" "00118003" "05318" "00118004" "05318" "00118005" "05318" "00118006" "05318" "00118007" "05318" "00118008" "05318" "00118009" "05318" "00118010" "05318" "00118011" "05318" "00118012" "05318" "00118013" "05318" "00118014" "05318" "00118015" "01711" "00118016" "05318" "00118017" "05318" "00118018" "05318" "00118019" "05318" "00118020" "05318" "00118021" "05318" "00118022" "05318" "00118023" "05318" "00118024" "05318" "00118025" "05318" "00118026" "05318" "00118027" "05318" "00118028" "05318" "00118029" "05318" "00118030" "05318" "00118031" "05318" "00118032" "05318" "00118033" "05318" "00118034" "05318" "00118035" "05318" "00118036" "05318" "00118037" "05318" "00118038" "05318" "00118039" "05318" "00118040" "05318" "00118041" "05318" "00118042" "05318" "00118043" "05318" "00118044" "05318" "00118045" "05318" "00118046" "05318" "00118047" "05318" "00118048" "05318" "00118049" "05318" "00118050" "05318" "00118051" "05318" "00118052" "05318" "00118053" "05318" "00118054" "05318" "00118055" "05318" "00118056" "05318" "00118057" "05318" "00118058" "05318" "00118059" "05318" "00118060" "05318" "00118061" "05318" "00118062" "05318" "00118063" "05318" "00118064" "05318" "00118065" "05318" "00118066" "05318" "00118067" "05318" "00118068" "05318" "00118069" "05318" "00118070" "05318" "00118071" "05318" "00118072" "05318" "00118073" "05318" "00118074" "05318" "00118075" "05318" "00118076" "05318" "00118077" "05318" "00118078" "05318" "00118079" "05318" 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"00118608" "05318" "00118609" "05318" "00118610" "05318" "00118611" "05318" "00118612" "05318" "00118613" "05318" "00118614" "05318" "00118615" "05318" "00118616" "05318" "00118617" "05318" "00118618" "05318" "00118619" "05318" "00118620" "05318" "00118621" "05318" "00118622" "05318" "00118623" "05318" "00118624" "05318" "00118625" "05318" "00118626" "05318" "00118627" "05318" "00118628" "05318" "00118629" "05318" "00118630" "05318" "00118631" "05318" "00118632" "05318" "00118633" "05318" "00118634" "05318" "00118635" "05318" "00118636" "05318" "00118637" "05318" "00118638" "05318" "00118639" "05318" "00118640" "05318" "00118641" "05318" "00118642" "05318" "00118643" "05318" "00118644" "05318" "00118645" "05318" "00118646" "05318" "00118647" "05318" "00118648" "05318" "00118649" "05318" "00118650" "05318" "00118651" "05318" "00118652" "05318" "00118653" "05318" "00118654" "05318" "00118655" "05318" "00118656" "05318" "00118657" "05318" "00118658" "05318" "00118659" "05318" "00118660" "05318" "00118661" "05318" "00118662" "05318" "00118663" "05318" "00118664" "05318" "00118665" "05318" "00118666" "05318" "00118667" "05318" "00118668" "05318" "00118669" "05318" "00118670" "05318" "00118671" "05318" "00118672" "05318" "00118673" "05318" "00118674" "05318" "00118675" "05318" "00118676" "00198" "00118677" "05318" "00118678" "05318" "00118679" "05318" "00118680" "05318" "00133224" "05318" "00133225" "05318" "00165193" "01325" "00208634" "01325" "00208635" "01325" "00208636" "01325" "00208637" "01325" "00208638" "01325" "00208639" "01325" "00208640" "01325" "00208641" "01325" "00208642" "01325" "00208643" "01325" "00208644" "01325" "00208645" "01325" "00208646" "01325" "00208647" "01325" "00208648" "01325" "00208649" "01325" "00208650" "01325" "00208651" "01325" "00208652" "01325" "00208653" "01325" "00208654" "01325" "00208655" "01325" "00208656" "01325" "00208657" "01325" "00208658" "01325" "00208659" "01325" "00208660" "01325" "00208661" "01325" "00208662" "01325" "00208663" "01325" "00208664" "01325" "00208665" "01325" "00208666" "01325" "00208667" "01325" "00208668" "01325" "00208669" "01325" "00208670" "01325" "00208671" "01325" "00208672" "01325" "00208673" "01325" "00208674" "01325" "00208675" "01325" "00208676" "01325" "00208677" "01325" "00208678" "01325" "00208679" "01325" "00208680" "01325" "00208681" "01325" "00208682" "01325" "00208683" "01325" "00208684" "01325" "00208685" "01325" "00208686" "01325" "00208687" "01325" "00208688" "01325" "00208689" "01325" "00208690" "01325" "00208691" "01325" "00208692" "01325" "00208693" "01325" "00208694" "01325" "00208695" "01325" "00208696" "01325" "00208697" "01325" "00208698" "01325" "00208699" "01325" "00208700" "01325" "00208701" "01325" "00208702" "01325" "00208703" "01325" "00208704" "01325" "00208705" "01325" "00208706" "01325" "00208707" "01325" "00208708" "01325" "00208709" "01325" "00229928" "01325" "00295756" "00198" "00307254" "01325" "00307265" "05804" "00307266" "05804" "00307698" "00198" "00331430" "05517" "00332373" "01711" "00332375" "01711" "00332376" "01711" "00382756" "01325" "00414383" "00198" "00428185" "06989" "00428186" "06989" "00428187" "06989" "00434426" "05804" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00936, 01325, 01711, 05318, 05517, 05804, 06989 ## Count = 574 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Length/Stature}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Bone/Age}}" "{{Phenotype/Extremities/Brachydactyly}}" "{{Phenotype/Growth}}" "{{Phenotype/Teeth/Anomalies}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Face/Shape}}" "{{Phenotype/Hypercalciuria/HPO_0002150}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Obesity/HPO_0001513}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Puberty}}" "{{Phenotype/Ossification/Ectopic/HPO_0011986}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Calcification}}" "{{Phenotype/Ion_Homeostasis}}" "{{Phenotype/Hormones}}" "{{Phenotype/Vitamin}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000060848" "01325" "00081272" "01741" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081310" "01325" "00103216" "01741" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082835" "01325" "00104711" "01741" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093341" "05318" "00117963" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093342" "05318" "00117964" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093343" "05318" "00117965" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093344" "05318" "00117966" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093345" "05318" "00117967" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093346" "05318" "00117968" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093347" "05318" "00117969" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093348" "05318" "00117970" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093349" "05318" "00117971" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093350" "05318" "00117972" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093351" "05318" "00117973" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093352" "05318" "00117974" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093356" "05318" "00117982" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093357" "05318" "00117984" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093358" "05318" "00117988" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093359" "05318" "00117989" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093360" "05318" "00117992" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093361" "05318" "00117995" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093362" "05318" "00117996" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093363" "05318" "00117997" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093364" "05318" "00117999" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093365" "05318" "00118001" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093366" "05318" "00118002" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093367" "05318" "00118003" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093368" "05318" "00118004" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093369" "05318" "00118006" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093370" "05318" "00118007" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093371" "05318" "00118010" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093372" "05318" "00118012" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093373" "01711" "00118015" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093374" "05318" "00118017" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093375" "05318" "00118018" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093376" "05318" "00118019" "02215" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093377" "05318" "00118020" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093378" "05318" "00118023" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093379" "05318" "00118024" "02215" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093380" "05318" "00118025" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093381" "05318" "00118027" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093382" "05318" "00118028" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093383" "05318" "00118029" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093384" "05318" "00118031" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093385" "05318" "00118035" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093386" "05318" "00118038" "02215" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093387" "05318" "00118039" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093388" "05318" "00118040" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093389" "05318" "00118041" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093390" "05318" "00118042" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093391" "05318" "00118043" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093392" "05318" "00118044" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093393" "05318" "00118045" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093394" "05318" "00118046" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093395" "05318" "00118047" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093396" "05318" "00118049" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093397" "05318" "00118050" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093398" "05318" "00118051" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093399" "05318" "00118052" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093400" "05318" "00118053" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093401" "05318" "00118054" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093402" "05318" "00118056" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093403" "05318" "00118057" "02215" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093404" "05318" "00118058" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093405" "05318" "00118059" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093406" "05318" "00118060" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093407" "05318" "00118061" "02214" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093408" "05318" "00118062" "02215" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093409" "05318" "00118064" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093410" "05318" "00118066" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093411" "05318" "00118067" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093412" "05318" "00118071" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093413" "05318" "00118073" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093414" "05318" "00118074" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093415" "05318" "00118076" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093416" "05318" "00118077" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093417" "05318" "00118078" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093418" "05318" "00118080" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093419" "05318" "00118082" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093420" "05318" "00118083" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093421" "05318" "00118084" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093422" "05318" "00118085" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093423" "05318" "00118086" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093424" "01711" "00118087" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093425" "05318" "00118088" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093426" "01325" "00118089" "02217" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093427" "05318" "00118091" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093428" "05318" "00118092" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093429" "05318" "00118093" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093430" "05318" "00118094" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093431" "05318" "00118095" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093432" "05318" "00118098" "02215" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093433" "05318" "00118100" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093434" "05318" "00118101" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093435" "05318" "00118104" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093436" "05318" "00118105" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093437" "05318" "00118107" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093438" "05318" "00118109" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093439" "05318" "00118110" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093440" "05318" "00118111" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093441" "05318" "00118112" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093442" "05318" "00118113" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093443" "05318" "00118114" "02210" "Isolated (sporadic)" "" "Solitary osteochondroma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093444" "05318" "00118115" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093445" "05318" "00118116" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093446" "05318" "00118117" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093447" "05318" "00118119" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093448" "05318" "00118121" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093449" "05318" "00118122" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093450" "05318" "00118123" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093451" "05318" "00118124" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093452" "05318" "00118125" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093453" "05318" "00118127" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093454" "05318" "00118129" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093455" "05318" "00118130" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093456" "05318" "00118131" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093457" "05318" "00118132" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093458" "05318" "00118137" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093459" "05318" "00118138" "02215" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093460" "05318" "00118139" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093461" "05318" "00118141" "02214" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093462" "05318" "00118142" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093463" "05318" "00118143" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093464" "05318" "00118144" "02215" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093465" "05318" "00118145" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093466" "05318" "00118146" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093467" "05318" "00118147" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093468" "05318" "00118148" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093469" "05318" "00118149" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093470" "05318" "00118150" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093471" "05318" "00118155" "02215" "Isolated (sporadic)" "" "CSP" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093472" "05318" "00118156" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093473" "05318" "00118157" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093474" "05318" "00118158" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093475" "05318" "00118159" "02215" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093476" "05318" "00118161" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093477" "05318" "00118162" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093478" "05318" "00118163" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093479" "05318" "00118164" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093480" "05318" "00118165" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093481" "05318" "00118166" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093482" "05318" "00118167" "02215" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093483" "05318" "00118168" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093484" "05318" "00118169" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093485" "05318" "00118170" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093486" "05318" "00118171" "02220" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093487" "05318" "00118175" "02214" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093488" "05318" "00118176" "02215" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093489" "05318" "00118177" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093490" "05318" "00118178" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093491" "05318" "00118181" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093492" "05318" "00118183" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093493" "05318" "00118184" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093494" "05318" "00118186" "02214" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093495" "05318" "00118187" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093496" "05318" "00118192" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093497" "05318" "00118193" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093498" "05318" "00118194" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093499" "05318" "00118195" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093500" "05318" "00118196" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093501" "05318" "00118198" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093502" "05318" "00118200" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093503" "05318" "00118201" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093504" "05318" "00118202" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093505" "05318" "00118203" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093506" "05318" "00118204" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093507" "05318" "00118206" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093508" "05318" "00118207" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093509" "05318" "00118209" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093510" "05318" "00118211" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093511" "05318" "00118212" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093512" "05318" "00118213" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093513" "05318" "00118214" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093514" "05318" "00118215" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093515" "05318" "00118216" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093516" "05318" "00118218" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093517" "05318" "00118221" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093519" "05318" "00118223" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093520" "05318" "00118224" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093521" "05318" "00118227" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093522" "05318" "00118228" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093523" "05318" "00118229" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093524" "05318" "00118230" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093525" "05318" "00118231" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093526" "05318" "00118232" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093527" "05318" "00118235" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093528" "05318" "00118236" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093529" "05318" "00118237" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093530" "05318" "00118239" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093531" "05318" "00118240" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093532" "05318" "00118241" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093533" "05318" "00118246" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093534" "05318" "00118250" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093535" "05318" "00118251" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093536" "05318" "00118252" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093537" "05318" "00118255" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093538" "05318" "00118256" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093539" "05318" "00118257" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093540" "05318" "00118258" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093541" "05318" "00118259" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093542" "05318" "00118260" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093543" "05318" "00118261" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093544" "05318" "00118262" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093545" "05318" "00118263" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093546" "05318" "00118264" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093547" "05318" "00118265" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093548" "05318" "00118271" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093549" "05318" "00118273" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093550" "05318" "00118274" "02215" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093551" "05318" "00118275" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093552" "05318" "00118276" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093553" "05318" "00118277" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093554" "05318" "00118279" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093555" "05318" "00118280" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093556" "05318" "00118281" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093557" "05318" "00118282" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093558" "05318" "00118283" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093559" "05318" "00118284" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093560" "05318" "00118285" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093561" "05318" "00118286" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093562" "05318" "00118287" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093563" "05318" "00118288" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093564" "05318" "00118294" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093565" "05318" "00118295" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093566" "05318" "00118296" "02215" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093567" "05318" "00118300" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093568" "05318" "00118301" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093569" "05318" "00118303" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093570" "05318" "00118306" "02215" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093571" "05318" "00118307" "02215" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093572" "05318" "00118308" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093573" "05318" "00118311" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093574" "05318" "00118312" "02215" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093575" "05318" "00118313" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093576" "05318" "00118314" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093577" "05318" "00118315" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093578" "05318" "00118318" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093579" "05318" "00118319" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093580" "05318" "00118321" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093581" "05318" "00118322" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093582" "05318" "00118323" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093583" "05318" "00118324" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093584" "05318" "00118330" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093585" "05318" "00118331" "02215" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093586" "05318" "00118332" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093587" "05318" "00118333" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093588" "05318" "00118335" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093589" "05318" "00118336" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093590" "05318" "00118341" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093591" "05318" "00118342" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093592" "05318" "00118343" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093593" "05318" "00118345" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093594" "05318" "00118346" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093595" "05318" "00118347" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093596" "05318" "00118349" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093597" "05318" "00118350" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093598" "05318" "00118351" "02215" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093599" "05318" "00118352" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093600" "05318" "00118354" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093601" "05318" "00118356" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093602" "05318" "00118357" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093603" "05318" "00118361" "02210" "Isolated (sporadic)" "" "Solitary osteochondroma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093604" "05318" "00118362" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093605" "05318" "00118364" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093606" "05318" "00118365" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093607" "05318" "00118366" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093608" "05318" "00118367" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093609" "05318" "00118368" "02215" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093610" "05318" "00118369" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093611" "05318" "00118370" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093612" "05318" "00118371" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093613" "05318" "00118372" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093614" "05318" "00118375" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093615" "05318" "00118376" "02215" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093616" "05318" "00118377" "02215" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093617" "05318" "00118379" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093618" "05318" "00118380" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093619" "05318" "00118381" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093620" "05318" "00118382" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093621" "05318" "00118383" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093622" "05318" "00118384" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093623" "05318" "00118385" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093624" "05318" "00118386" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093625" "05318" "00118387" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093626" "05318" "00118388" "02172" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093627" "05318" "00118389" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093628" "05318" "00118390" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093629" "05318" "00118392" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093630" "05318" "00118393" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093631" "05318" "00118394" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093632" "05318" "00118398" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093633" "05318" "00118399" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093634" "05318" "00118400" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093635" "05318" "00118401" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093636" "05318" "00118402" "02215" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093637" "05318" "00118403" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093638" "05318" "00118404" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093639" "05318" "00118407" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093640" "05318" "00118408" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093641" "05318" "00118409" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093642" "05318" "00118411" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093643" "05318" "00118412" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093644" "05318" "00118414" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093645" "05318" "00118417" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093646" "05318" "00118418" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093647" "05318" "00118420" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093648" "05318" "00118421" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093649" "05318" "00118422" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093650" "05318" "00118424" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093651" "05318" "00118425" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093652" "05318" "00118426" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093653" "05318" "00118428" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093654" "05318" "00118429" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093655" "05318" "00118430" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093656" "05318" "00118432" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093657" "05318" "00118433" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093658" "05318" "00118434" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093659" "05318" "00118435" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093660" "05318" "00118436" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093661" "05318" "00118439" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093662" "05318" "00118440" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093663" "05318" "00118442" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093664" "05318" "00118445" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093665" "05318" "00118447" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093666" "05318" "00118448" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093667" "05318" "00118450" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093668" "05318" "00118451" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093669" "05318" "00118453" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093670" "05318" "00118454" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093671" "05318" "00118455" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093672" "05318" "00118456" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093673" "05318" "00118457" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093674" "05318" "00118458" "02215" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093675" "05318" "00118459" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093676" "05318" "00118460" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093677" "05318" "00118461" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093678" "05318" "00118462" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093680" "05318" "00118466" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093681" "05318" "00118467" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093682" "05318" "00118468" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093683" "05318" "00118469" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093684" "05318" "00118470" "02215" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093685" "05318" "00118471" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093686" "05318" "00118472" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093687" "05318" "00118475" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093688" "05318" "00118476" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093689" "05318" "00118477" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093690" "05318" "00118480" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093691" "05318" "00118481" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093692" "05318" "00118482" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093693" "05318" "00118484" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093694" "05318" "00118485" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093695" "05318" "00118486" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093696" "05318" "00118487" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093697" "05318" "00118488" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093698" "05318" "00118491" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093699" "05318" "00118492" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093700" "05318" "00118493" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093701" "05318" "00118494" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093702" "05318" "00118495" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093703" "05318" "00118496" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093704" "05318" "00118497" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093705" "05318" "00118500" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093706" "05318" "00118501" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093707" "05318" "00118502" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093708" "05318" "00118503" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093709" "05318" "00118504" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093710" "05318" "00118505" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093711" "05318" "00118510" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093712" "05318" "00118511" "02215" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093713" "05318" "00118512" "02215" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093714" "05318" "00118517" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093715" "05318" "00118518" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093716" "05318" "00118520" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093717" "05318" "00118521" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093718" "05318" "00118522" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093719" "05318" "00118523" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093720" "05318" "00118525" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093721" "05318" "00118526" "02215" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093722" "05318" "00118527" "02215" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093723" "05318" "00118528" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093724" "05318" "00118529" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093725" "05318" "00118531" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093726" "05318" "00118532" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093727" "05318" "00118534" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093728" "05318" "00118536" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093729" "05318" "00118537" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093730" "05318" "00118538" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093731" "05318" "00118539" "02215" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093732" "05318" "00118541" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093733" "05318" "00118543" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093734" "05318" "00118544" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093735" "05318" "00118545" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093736" "05318" "00118546" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093737" "05318" "00118547" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093738" "05318" "00118548" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093739" "05318" "00118551" "02215" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093740" "01325" "00118552" "02172" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093741" "05318" "00118553" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093742" "05318" "00118554" "02215" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093743" "05318" "00118555" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093744" "05318" "00118559" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093745" "05318" "00118560" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093746" "05318" "00118562" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093747" "05318" "00118563" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093748" "05318" "00118564" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093749" "05318" "00118566" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093750" "05318" "00118568" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093751" "05318" "00118569" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093752" "05318" "00118570" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093753" "05318" "00118571" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093754" "05318" "00118572" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093755" "05318" "00118573" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093756" "05318" "00118574" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093757" "05318" "00118575" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093758" "05318" "00118576" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093759" "05318" "00118577" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093760" "05318" "00118578" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093761" "05318" "00118579" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093762" "05318" "00118580" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093763" "05318" "00118581" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093764" "05318" "00118582" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093765" "05318" "00118583" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093766" "05318" "00118585" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093767" "05318" "00118587" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093768" "05318" "00118589" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093769" "05318" "00118590" "02215" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093770" "05318" "00118592" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093771" "05318" "00118594" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093772" "05318" "00118596" "02215" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093773" "05318" "00118597" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093774" "05318" "00118598" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093775" "05318" "00118599" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093776" "05318" "00118600" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093777" "05318" "00118601" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093778" "05318" "00118603" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093779" "05318" "00118605" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093780" "05318" "00118606" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093781" "05318" "00118607" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093782" "05318" "00118610" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093783" "05318" "00118612" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093784" "05318" "00118613" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093785" "05318" "00118616" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093786" "05318" "00118618" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093787" "05318" "00118619" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093788" "05318" "00118621" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093789" "05318" "00118623" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093790" "05318" "00118625" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093791" "05318" "00118626" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093792" "05318" "00118627" "02215" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093793" "05318" "00118628" "02215" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093794" "05318" "00118629" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093795" "05318" "00118630" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093796" "05318" "00118632" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093797" "05318" "00118634" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093798" "05318" "00118636" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093799" "05318" "00118637" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093800" "05318" "00118638" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093801" "05318" "00118641" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093802" "05318" "00118643" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093803" "05318" "00118646" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093804" "05318" "00118647" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093805" "05318" "00118651" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093806" "05318" "00118652" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093807" "05318" "00118654" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093808" "05318" "00118656" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093809" "05318" "00118657" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093810" "05318" "00118658" "02215" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093811" "05318" "00118661" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093812" "05318" "00118662" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093813" "05318" "00118663" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093814" "05318" "00118664" "02212" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093815" "05318" "00118666" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093816" "05318" "00118667" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093817" "05318" "00118668" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093818" "05318" "00118669" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093819" "05318" "00118670" "02212" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093820" "05318" "00118671" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093821" "05318" "00118672" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093822" "05318" "00118673" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093823" "05318" "00118675" "02210" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093824" "05318" "00118676" "02216" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093825" "05318" "00118677" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093826" "05318" "00118678" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105984" "05318" "00133224" "02210" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105985" "05318" "00133225" "02210" "Familial, autosomal dominant" "" "see paper; ..., oligozoospermia; family with miscarriages & newborn deaths" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157252" "01325" "00208634" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157253" "01325" "00208635" "02515" "Familial, autosomal dominant" "10y" "multiple exostoses (HP:0002762); exostoses hand (HP:0004276), left carpals; exostoses leg, bilateral knees; exostoses chest, ribs" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157254" "01325" "00208636" "02515" "Familial, autosomal dominant" "45y" "multiple exostoses (HP:0002762); right arm humerus; exostoses left radius (HP:0003986); exostoses left ulna (HP:0003985); exostoses leg, bilateral fibula; exostoses chest, left scapula" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157255" "01325" "00208637" "02515" "Familial, autosomal dominant" "45y" "multiple exostoses (HP:0002762); bilateral arm humerus; bilateral exostoses ulna (HP:0003985); exostoses leg, bilateral femur/thigh bones, bilateral fibula, bilateral tibia/shin bone; exostoses foot, bilateral talus" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157256" "01325" "00208638" "02515" "Familial, autosomal dominant" "36y" "multiple exostoses (HP:0002762); exostoses leg, left femur/thigh bones, left fibula, left tibia/shin bone" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157257" "01325" "00208639" "02515" "Familial, autosomal dominant" "4y" "multiple exostoses (HP:0002762); arm humerus; exostoses hand (HP:0004276), bilateral phalanges; exostoses leg, femur/thigh bones; exostoses vertebrae, cervical" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157258" "01325" "00208640" "02515" "Familial, autosomal dominant" "19y" "multiple exostoses (HP:0002762); exostoses leg, femur/thigh bones" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157259" "01325" "00208641" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157260" "01325" "00208642" "02515" "Familial, autosomal dominant" "45y" "multiple exostoses (HP:0002762); exostoses radius (HP:0003986)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157261" "01325" "00208643" "02515" "Familial, autosomal dominant" "18y" "multiple exostoses (HP:0002762); bilateral arm humerus; bilateral exostoses ulna (HP:0003985); exostoses leg, bilateral femur/thigh bones, fibula, tibia/shin bone; exostoses foot, talus" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157262" "01325" "00208644" "02515" "Familial, autosomal dominant" "18y" "multiple exostoses (HP:0002762); bilateral arm humerus; exostoses left radius (HP:0003986); exostoses left ulna (HP:0003985); exostoses leg, bilateral knees, bilateral fibula, bilateral tibia/shin bone" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157263" "01325" "00208645" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157264" "01325" "00208646" "02515" "Familial, autosomal dominant" "47y" "multiple exostoses (HP:0002762); exostoses radius (HP:0003986); bilateral exostoses ulna (HP:0003985); exostoses leg, bilateral femur/thigh bones, fibula, tibia/shin bone; exostoses foot, calcaneus; exostoses chest, scapula" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157265" "01325" "00208647" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157266" "01325" "00208648" "02515" "Familial, autosomal dominant" "8y" "multiple exostoses (HP:0002762); right arm humerus; exostoses right radius (HP:0003986); exostoses hand (HP:0004276), left phalanges; exostoses leg, left tibia/shin bone; exostoses foot, left talus" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157267" "01325" "00208649" "02515" "Familial, autosomal dominant" "16y" "multiple exostoses (HP:0002762); right arm humerus; exostoses right radius (HP:0003986); bilateral exostoses ulna (HP:0003985); exostoses leg, bilateral femur/thigh bones, bilateral fibula, bilateral tibia/shin bone" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157268" "01325" "00208650" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157269" "01325" "00208651" "02515" "Familial, autosomal dominant" "13y" "multiple exostoses (HP:0002762); exostoses leg, bilateral femur/thigh bones, right fibula, right tibia/shin bone; exostoses chest, right scapula" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157270" "01325" "00208652" "02515" "Familial, autosomal dominant" "37y" "multiple exostoses (HP:0002762); right arm humerus; exostoses right radius (HP:0003986); exostoses right ulna (HP:0003985); exostoses leg, right femur/thigh bones, bilateral fibula, bilateral tibia/shin bone; exostoses chest, left calvicular, left ribs" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157271" "01325" "00208653" "02515" "Familial, autosomal dominant" "7y" "multiple exostoses (HP:0002762); exostoses leg, right tibia/shin bone; intellectual disability; myopathy; bilateral hallux valgus" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157272" "01325" "00208654" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157273" "01325" "00208655" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157274" "01325" "00208656" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157275" "01325" "00208657" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157276" "01325" "00208658" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157277" "01325" "00208659" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157278" "01325" "00208660" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157279" "01325" "00208661" "02515" "Familial, autosomal dominant" "10y" "multiple exostoses (HP:0002762); arm humerus; exostoses radius (HP:0003986); exostoses ulna (HP:0003985); exostoses leg, femur/thigh bones, knee, fibula, tibia/shin bone" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157280" "01325" "00208662" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157281" "01325" "00208663" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157282" "01325" "00208664" "02515" "Familial, autosomal dominant" "17y" "multiple exostoses (HP:0002762); bilateral arm humerus; exostoses right radius (HP:0003986); exostoses right ulna (HP:0003985); exostoses hand (HP:0004276); exostoses leg, bilateral knees, bilateral fibula, bilateral tibia/shin bone; exostoses foot, bilateral calcaneus, bilateral talus; exostoses chest, scapula" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157283" "01325" "00208665" "02515" "Familial, autosomal dominant" "20y" "multiple exostoses (HP:0002762); arm humerus; exostoses hand (HP:0004276), bilateral phalanges; exostoses chest, scapula, ribs" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157284" "01325" "00208666" "02515" "Familial, autosomal dominant" "12y" "multiple exostoses (HP:0002762); exostoses leg, femur/thigh bones" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157285" "01325" "00208667" "02515" "Familial, autosomal dominant" "16y" "multiple exostoses (HP:0002762); exostoses leg, knee; exostoses chest, calvicular" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157286" "01325" "00208668" "02515" "Familial, autosomal dominant" "50y" "multiple exostoses (HP:0002762); exostoses leg, bilateral tibia/shin bone; exostoses foot, calcaneus, talus; exostoses chest, scapula, ribs" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157287" "01325" "00208669" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157288" "01325" "00208670" "02515" "Familial, autosomal dominant" "15y" "multiple exostoses (HP:0002762); left arm humerus; exostoses left radius (HP:0003986); exostoses left ulna (HP:0003985); exostoses leg, bilateral femur/thigh bones, bilateral tibia/shin bone; exostoses chest, ribs" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157289" "01325" "00208671" "02515" "Familial, autosomal dominant" "47y" "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; exostoses chest, ribs" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157290" "01325" "00208672" "02515" "Familial, autosomal dominant" "58y" "multiple exostoses (HP:0002762); bilateral arm humerus; bilateral exostoses ulna (HP:0003985); exostoses leg, bilateral femur/thigh bones, bilateral tibia/shin bone; exostoses chest, bilateral ribs" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157291" "01325" "00208673" "02515" "Familial, autosomal dominant" "23y" "multiple exostoses (HP:0002762); arm humerus; exostoses leg, femur/thigh bones" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157292" "01325" "00208674" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157293" "01325" "00208675" "02515" "Familial, autosomal dominant" "6y" "multiple exostoses (HP:0002762); bilateral arm humerus; bilateral exostoses radius (HP:0003986); bilateral exostoses ulna (HP:0003985); exostoses hand (HP:0004276), bilateral phalanges; mild intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157294" "01325" "00208676" "02515" "Familial, autosomal dominant" "35y" "multiple exostoses (HP:0002762); exostoses hand (HP:0004276), left metacarpals, left phalanges; exostoses leg, left femur/thigh bones, left fibula, left tibia/shin bone; exostoses chest, bilateral ribs" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157295" "01325" "00208677" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157296" "01325" "00208678" "02515" "Familial, autosomal dominant" "50y" "multiple exostoses (HP:0002762); arm humerus; exostoses ulna (HP:0003985)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157297" "01325" "00208679" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157298" "01325" "00208680" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157299" "01325" "00208681" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157300" "01325" "00208682" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157301" "01325" "00208683" "02515" "Familial, autosomal dominant" "" "multiple exostoses (HP:0002762); exostoses leg, bilateral femur/thigh bones" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157302" "01325" "00208684" "02515" "Familial, autosomal dominant" "65y" "multiple exostoses (HP:0002762); exostoses leg, bilateral knees, right fibula" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157303" "01325" "00208685" "02515" "Familial, autosomal dominant" "7y" "multiple exostoses (HP:0002762); arm humerus" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157304" "01325" "00208686" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157305" "01325" "00208687" "02515" "Familial, autosomal dominant" "23y" "multiple exostoses (HP:0002762); exostoses hand (HP:0004276), left carpals; exostoses leg, bilateral knees, left fibula, left tibia/shin bone; exostoses foot, left calcaneus; exostoses chest, right scapula, right ribs" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157306" "01325" "00208688" "02515" "Familial, autosomal dominant" "63y" "multiple exostoses (HP:0002762)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157307" "01325" "00208689" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157308" "01325" "00208690" "02515" "Familial, autosomal dominant" "" "humerus, radius (HP:00039), ulna (HP:00039), femur, knee, fibula, tibia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157309" "01325" "00208691" "02515" "Familial, autosomal dominant" "47y" "multiple exostoses (HP:0002762); arm humerus; exostoses radius (HP:0003986); exostoses ulna (HP:0003985); exostoses leg, femur/thigh bones, knee, fibula, tibia/shin bone" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157310" "01325" "00208692" "02515" "Familial, autosomal dominant" "38y" "multiple exostoses (HP:0002762); left arm humerus; bilateral exostoses radius (HP:0003986); exostoses leg, bilateral femur/thigh bones, bilateral fibula, right tibia/shin bone; exostoses foot, right talus; exostoses chest, left scapula, left ribs; chondrosarcoma of the distal right femoral" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157311" "01325" "00208693" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157312" "01325" "00208694" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157313" "01325" "00208695" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157314" "01325" "00208696" "02515" "Familial, autosomal dominant" "13y" "multiple exostoses (HP:0002762); left arm humerus" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157315" "01325" "00208697" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157316" "01325" "00208698" "02515" "Familial, autosomal dominant" "26y" "multiple exostoses (HP:0002762); bilateral arm humerus; bilateral exostoses radius (HP:0003986); exostoses left ulna (HP:0003985); exostoses leg, femur/thigh bones, left fibula, bilateral tibia/shin bone; exostoses chest, right calvicular, bilateral scapula" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157317" "01325" "00208699" "02515" "Familial, autosomal dominant" "62y" "multiple exostoses (HP:0002762); bilateral arm humerus; bilateral exostoses radius (HP:0003986); bilateral exostoses ulna (HP:0003985); exostoses hand (HP:0004276), left phalanges; exostoses leg, bilateral knees" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157318" "01325" "00208700" "02515" "Familial, autosomal dominant" "31y" "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; exostoses vertebrae, bilateral cervical" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157319" "01325" "00208701" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157320" "01325" "00208702" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157321" "01325" "00208703" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157322" "01325" "00208704" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157323" "01325" "00208705" "02515" "Familial, autosomal dominant" "38y" "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; exostoses pelvis, bilateral ilium" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157324" "01325" "00208706" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157325" "01325" "00208707" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157326" "01325" "00208708" "02515" "Familial, autosomal dominant" "20y" "multiple exostoses (HP:0002762); bilateral arm humerus; exostoses chest, bilateral scapula" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157327" "01325" "00208709" "02515" "Familial, autosomal dominant" "25y" "multiple exostoses (HP:0002762); exostoses hand (HP:0004276), carpals; exostoses leg, left femur/thigh bones, left knee" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000223274" "00198" "00295756" "01164" "Unknown" "" "Multiple exostoses (HP:0002762)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000233068" "05804" "00307265" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "EXT2" "multiple exostoses" "" "0000233069" "05804" "00307266" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "EXT1" "multiple exostoses" "" "0000233258" "00198" "00307698" "01164" "Unknown" "" "Enchondroma (HP:0030038)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000249622" "05517" "00331430" "00000" "Familial, autosomal dominant" "" "Ectopic ossification" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Disorganized development of skeletal components group" "skeletal dysplasia" "" "0000250559" "01711" "00332373" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "EXT1" "multiple osteochondromas" "" "0000250561" "01711" "00332375" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "EXT1" "multiple osteochondromas" "" "0000250562" "01711" "00332376" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "EXT1" "multiple osteochondromas" "" "0000306218" "00198" "00414383" "00000" "Familial, autosomal dominant" "37y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Hereditary Multiple Osteochondromatosis Type I" "" "" "0000319103" "06989" "00428185" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "bilateral non-syndromic cleft lip and palate" "" "0000319104" "06989" "00428186" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "right-sided non-syndromic cleft lip" "" "0000319105" "06989" "00428187" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "left-sided non-syndromic cleft lip" "" ## Screenings ## Do not remove or alter this header ## ## Count = 810 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081384" "00081272" "1" "01741" "01741" "2016-09-28 14:25:00" "" "" "SEQ" "DNA" "" "" "0000103671" "00103216" "1" "01741" "01741" "2017-04-10 10:44:52" "" "" "SEQ" "DNA" "" "" "0000105183" "00104711" "1" "01741" "01741" "2017-05-22 09:26:23" "" "" "SEQ" "DNA" "" "" "0000118426" "00117963" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 16:19:39" "SEQ" "DNA" "Blood" "" "0000118427" "00117964" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 16:19:50" "SEQ" "DNA" "Blood" "" "0000118428" "00117965" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 16:16:00" "SEQ" "DNA" "Blood" "" "0000118429" "00117966" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 16:20:01" "SEQ" "DNA" "Blood" "" "0000118430" "00117967" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 13:15:46" "SEQ" "DNA" "Blood" "" "0000118431" "00117968" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-20 16:30:42" "SEQ" "DNA" "Blood" "" "0000118432" "00117969" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 13:16:00" "SEQ" "DNA" "Blood" "" "0000118433" "00117970" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2010-08-06 09:42:32" "SEQ" "DNA" "Blood" "" "0000118434" "00117971" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 16:15:49" "FISH;MLPA" "DNA" "Blood" "" "0000118435" "00117972" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 16:16:13" "FISH;MLPA" "DNA" "Blood" "" "0000118436" "00117973" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 13:16:32" "SEQ" "DNA" "Blood" "" "0000118437" "00117974" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 16:15:36" "MLPA" "DNA" "Blood" "" "0000118441" "00117978" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 13:17:32" "SEQ" "DNA" "" "" "0000118442" "00117979" "1" "02210" "02210" "2009-02-20 08:23:36" "02033" "2009-02-20 08:57:41" "SEQ" "DNA" "Blood" "" "0000118443" "00117980" "1" "02210" "02210" "2009-02-20 08:23:36" "02033" "2009-02-20 08:59:58" "SEQ" "DNA" "Blood" "" "0000118444" "00117981" "1" "02210" "02210" "2009-02-20 08:23:36" "02033" "2009-02-20 09:01:21" "SEQ" "DNA" "Blood" "" "0000118445" "00117982" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 16:17:09" "MLPA" "DNA" "" "" "0000118446" "00117983" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 16:29:16" "MLPA" "DNA" "" "" "0000118447" "00117984" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-20 13:50:26" "MLPA" "DNA" "" "" "0000118448" "00117985" "1" "02152" "02033" "2009-02-10 13:12:01" "02033" "2009-02-23 13:17:55" "SEQ" "DNA" "Blood" "" "0000118449" "00117986" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 16:16:36" "MLPA" "DNA" "Blood" "" "0000118450" "00117987" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-20 13:51:06" "MLPA" "DNA" "Blood" "" "0000118451" "00117988" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-20 16:30:29" "SEQ" "DNA" "Blood" "" "0000118452" "00117989" "1" "02210" "02033" "2009-10-13 15:52:46" "02033" "2010-06-25 10:51:42" "SEQ" "DNA" "Blood" "" "0000118453" "00117990" "1" "02210" "02033" "2009-10-26 10:03:41" "" "" "SEQ" "DNA" "Blood" "" "0000118454" "00117991" "1" "02210" "02033" "2010-02-01 10:54:31" "02033" "2010-08-06 09:41:21" "SEQ" "DNA" "Blood" "" "0000118455" "00117992" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-20 15:23:29" "SEQ" "DNA" "" "" "0000118456" "00117993" "1" "02210" "02033" "2010-11-15 09:53:21" "02033" "2010-11-15 09:56:02" "SEQ" "DNA" "" "" "0000118457" "00117994" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 16:22:30" "DHPLC" "DNA" "Blood" "" "0000118458" "00117995" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-20 15:24:27" "SEQ" "DNA" "" "" "0000118459" "00117996" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 16:22:40" "DHPLC" "DNA" "Blood" "" "0000118460" "00117997" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 13:18:39" "SEQ" "DNA" "Blood" "" "0000118461" "00117998" "1" "02213" "02033" "2009-02-18 13:06:48" "02033" "2009-02-23 13:18:53" "SEQ" "DNA" "" "" "0000118462" "00117999" "1" "02210" "02033" "2009-10-13 15:52:46" "" "" "SEQ" "DNA" "Blood" "" "0000118463" "00118000" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-20 12:38:51" "DHPLC;SSCA" "DNA" "Blood" "" "0000118464" "00118001" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 15:29:32" "SSCA" "DNA" "Blood" "" "0000118465" "00118002" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-20 15:25:21" "SEQ" "DNA" "" "" "0000118466" "00118003" "1" "02210" "02033" "2009-10-13 15:52:46" "" "" "SEQ" "DNA" "" "" "0000118467" "00118004" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 13:19:08" "SEQ" "DNA" "Blood" "" "0000118468" "00118005" "1" "02210" "02033" "2010-02-01 11:24:45" "" "" "SEQ" "DNA" "Blood" "" "0000118469" "00118006" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-20 15:27:03" "SEQ" "DNA" "" "" "0000118470" "00118007" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 13:19:41" "SEQ" "DNA" "Blood" "" "0000118471" "00118008" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 16:12:12" "DHPLC;SSCA" "DNA" "Blood" "" "0000118472" "00118009" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 16:12:26" "DHPLC;SSCA" "DNA" "Blood" "" "0000118473" "00118010" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 16:22:56" "DHPLC" "DNA" "Blood" "" "0000118474" "00118011" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 14:57:32" "DHPLC" "DNA" "" "" "0000118475" "00118012" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 13:19:57" "SEQ" "DNA" "" "" "0000118476" "00118013" "1" "02213" "02033" "2009-02-18 13:06:48" "02033" "2009-02-23 13:20:10" "SEQ" "DNA" "" "" "0000118477" "00118014" "1" "02210" "02033" "2009-03-06 10:44:49" "02033" "2009-03-06 20:37:13" "SEQ" "DNA" "Blood" "" "0000118478" "00118015" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-03-05 12:23:29" "SEQ" "DNA" "" "" "0000118479" "00118016" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-20 16:30:58" "SEQ" "DNA" "" "" "0000118480" "00118017" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-20 15:27:43" "SEQ" "DNA" "" "" "0000118481" "00118018" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 16:17:45" "SEQ" "DNA" "" "" "0000118482" "00118019" "1" "02215" "02215" "2009-11-16 14:22:06" "02215" "2017-02-20 10:24:23" "DHPLC" "DNA" "Blood" "" "0000118483" "00118020" "1" "02210" "02033" "2009-10-13 15:52:46" "" "" "SEQ" "DNA" "" "" "0000118484" "00118021" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 16:23:45" "SEQ" "DNA" "" "" "0000118485" "00118022" "1" "02210" "02033" "2009-10-26 09:57:53" "" "" "SEQ" "DNA" "Blood" "" "0000118486" "00118023" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 14:57:48" "DHPLC" "DNA" "Blood" "" "0000118487" "00118024" "1" "02215" "02215" "2011-11-07 09:46:37" "02215" "2017-02-20 10:26:52" "DHPLC" "DNA" "Blood" "" "0000118488" "00118025" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-20 15:28:41" "SEQ" "DNA" "" "" "0000118489" "00118026" "1" "02213" "02033" "2009-02-18 13:06:48" "02033" "2009-02-23 13:20:57" "SEQ" "DNA" "" "" "0000118490" "00118027" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 15:25:40" "SSCA" "DNA" "Blood" "" "0000118491" "00118028" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-20 15:29:30" "SEQ" "DNA" "" "" "0000118492" "00118029" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 13:21:34" "SEQ" "DNA" "Blood" "" "0000118493" "00118030" "1" "02210" "02033" "2009-03-06 10:44:49" "02033" "2009-03-06 20:37:29" "SEQ" "DNA" "Blood" "" "0000118494" "00118031" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-20 15:30:24" "SEQ" "DNA" "" "" "0000118495" "00118032" "1" "02210" "02033" "2009-10-13 15:52:46" "" "" "SEQ" "DNA" "" "" "0000118496" "00118033" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 16:10:29" "DHPLC;SSCA" "DNA" "Blood" "" "0000118497" "00118034" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 16:06:10" "DHPLC;SSCA" "DNA" "Blood" "" "0000118498" "00118035" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 13:22:00" "SEQ" "DNA" "Blood" "" "0000118499" "00118036" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 14:58:04" "DHPLC" "DNA" "Blood" "" "0000118500" "00118037" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 14:58:19" "DHPLC" "DNA" "Blood" "" "0000118501" "00118038" "1" "02215" "02215" "2011-11-07 09:57:22" "02215" "2017-02-20 10:38:16" "DHPLC" "DNA" "Blood" "" "0000118502" "00118039" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 15:17:15" "SEQ" "DNA" "" "" "0000118503" "00118040" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 14:58:41" "DHPLC" "DNA" "Blood" "" "0000118504" "00118041" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-20 15:31:17" "SEQ" "DNA" "" "" "0000118505" "00118042" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 15:28:32" "SSCA" "DNA" "Blood" "" "0000118506" "00118043" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 15:20:01" "SEQ" "DNA" "" "" "0000118507" "00118044" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 15:43:41" "SSCA" "DNA" "Blood" "" "0000118508" "00118045" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 15:35:32" "SSCA" "DNA" "Blood" "" "0000118509" "00118046" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 13:22:35" "SEQ" "DNA" "Blood" "" "0000118510" "00118047" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 13:22:49" "SEQ" "DNA" "Blood" "" "0000118511" "00118048" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 15:45:15" "SSCA" "DNA" "Blood" "" "0000118512" "00118049" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-20 15:32:09" "SEQ" "DNA" "" "" "0000118513" "00118050" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 15:28:16" "SSCA" "DNA" "Blood" "" "0000118514" "00118051" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:17:57" "SEQ" "DNA" "" "" "0000118515" "00118052" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-20 15:33:04" "SEQ" "DNA" "" "" "0000118516" "00118053" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-20 15:33:54" "SEQ" "DNA" "" "" "0000118517" "00118054" "1" "02210" "02033" "2009-03-06 10:44:49" "" "" "SEQ" "DNA" "Blood" "" "0000118518" "00118055" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 14:59:11" "DHPLC" "DNA" "" "" "0000118519" "00118056" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-20 15:34:50" "SEQ" "DNA" "" "" "0000118520" "00118057" "1" "02215" "02215" "2009-10-20 17:46:04" "02215" "2017-02-20 10:39:35" "DHPLC" "DNA" "Blood" "" "0000118521" "00118058" "1" "02210" "02033" "2011-01-21 14:06:44" "" "" "SEQ" "DNA" "Blood" "" "0000118522" "00118059" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-20 15:35:47" "SEQ" "DNA" "" "" "0000118523" "00118060" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-20 15:36:32" "SEQ" "DNA" "" "" "0000118524" "00118061" "1" "02214" "02214" "2009-10-22 22:11:32" "02033" "2009-10-23 08:55:07" "PCR" "DNA" "" "" "0000118525" "00118062" "1" "02215" "02215" "2009-11-16 14:14:23" "02215" "2017-02-20 10:40:38" "DHPLC" "DNA" "Blood" "" "0000118526" "00118063" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:00:25" "DHPLC" "DNA" "" "" "0000118527" "00118064" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 13:24:36" "SEQ" "DNA" "Blood" "" "0000118528" "00118065" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 13:24:52" "SEQ" "DNA" "" "" "0000118529" "00118066" "1" "02210" "02033" "2009-10-13 15:52:46" "" "" "SEQ" "DNA" "" "" "0000118530" "00118067" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:18:12" "SEQ" "DNA" "Blood" "" "0000118531" "00118068" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 16:06:48" "DHPLC;SSCA" "DNA" "Blood" "" "0000118532" "00118069" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 16:07:04" "DHPLC;SSCA" "DNA" "Blood" "" "0000118533" "00118070" "1" "02210" "02033" "2009-10-13 15:52:46" "" "" "SEQ" "DNA" "Blood" "" "0000118534" "00118071" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-20 15:37:28" "SEQ" "DNA" "" "" "0000118535" "00118072" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 13:25:31" "SEQ" "DNA" "" "" "0000118536" "00118073" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 13:07:19" "SEQ" "DNA" "Blood" "" "0000118537" "00118074" "1" "02210" "02033" "2011-01-21 14:01:52" "02033" "2011-01-21 14:45:35" "SEQ" "DNA" "Blood" "" "0000118538" "00118075" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 16:11:54" "DHPLC;SSCA" "DNA" "Blood" "" "0000118539" "00118076" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 13:07:36" "SEQ" "DNA" "Blood" "" "0000118540" "00118077" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-20 15:40:05" "SEQ" "DNA" "" "" "0000118541" "00118078" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 13:07:53" "SEQ" "DNA" "Blood" "" "0000118542" "00118079" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:07:22" "DHPLC" "DNA" "Blood" "" "0000118543" "00118080" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:28:47" "SSCA" "DNA" "Osteochondroma" "" "0000118544" "00118081" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:07:36" "DHPLC" "DNA" "" "" "0000118545" "00118082" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:03:39" "SEQ" "DNA" "Blood" "" "0000118546" "00118083" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 13:26:06" "SEQ" "DNA" "Blood" "" "0000118547" "00118084" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 14:58:57" "DHPLC" "DNA" "Blood" "" "0000118548" "00118085" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:31:21" "SSCA" "DNA" "Blood" "" "0000118549" "00118086" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 13:26:21" "SEQ" "DNA" "Blood" "" "0000118550" "00118087" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 13:14:50" "SEQ" "DNA" "Chondrosarcoma" "" "0000118551" "00118088" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-04-30 10:06:23" "SEQ" "DNA" "Blood" "" "0000118552" "00118089" "1" "02217" "02217" "2013-06-17 12:17:37" "" "" "SEQ" "DNA" "Peripheral blood" "" "0000118553" "00118090" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:09:43" "DHPLC" "DNA" "" "" "0000118554" "00118091" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:04:33" "DHPLC" "DNA" "Blood" "" "0000118555" "00118092" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 13:26:36" "SEQ" "DNA" "Blood" "" "0000118556" "00118093" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 14:59:58" "SEQ" "DNA" "Blood" "" "0000118557" "00118094" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:29:50" "SSCA" "DNA" "Blood" "" "0000118558" "00118095" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 14:59:28" "DHPLC" "DNA" "Blood" "" "0000118559" "00118096" "1" "02210" "02033" "2011-02-22 19:51:01" "" "" "SEQ" "DNA" "Blood" "" "0000118560" "00118097" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 14:59:43" "DHPLC" "DNA" "" "" "0000118561" "00118098" "1" "02215" "02215" "2011-11-07 11:02:47" "02215" "2017-02-20 10:41:43" "DHPLC" "DNA" "Blood" "" "0000118562" "00118099" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:00:10" "DHPLC" "DNA" "" "" "0000118563" "00118100" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-20 15:41:04" "SEQ" "DNA" "" "" "0000118564" "00118101" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:30:53" "SEQ" "DNA" "Blood" "" "0000118565" "00118102" "1" "02210" "02033" "2010-10-01 12:08:24" "02033" "2010-10-01 12:35:05" "SEQ" "DNA" "" "" "0000118567" "00118104" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:30:05" "SSCA" "DNA" "Blood" "" "0000118568" "00118105" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-20 15:41:58" "SEQ" "DNA" "" "" "0000118569" "00118106" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:31:35" "SSCA" "DNA" "Blood" "" "0000118570" "00118107" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 13:27:27" "SEQ" "DNA" "Blood" "" "0000118571" "00118108" "1" "02210" "02033" "2010-11-15 10:07:09" "" "" "SEQ" "DNA" "" "" "0000118572" "00118109" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 13:58:12" "SSCA" "DNA" "Blood" "" "0000118573" "00118110" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 13:27:51" "SEQ" "DNA" "Blood" "" "0000118574" "00118111" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 13:28:06" "SEQ" "DNA" "" "" "0000118575" "00118112" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:20:49" "SEQ" "DNA" "Blood" "" "0000118576" "00118113" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:02:20" "DHPLC" "DNA" "Blood" "" "0000118577" "00118114" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-03-05 12:26:14" "SEQ" "DNA" "" "" "0000118578" "00118115" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:46:08" "SSCA" "DNA" "Blood" "" "0000118579" "00118116" "1" "02210" "02033" "2009-12-03 13:32:27" "02033" "2009-12-03 13:34:35" "SEQ" "DNA" "" "" "0000118580" "00118117" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:31:07" "SSCA" "DNA" "Blood" "" "0000118581" 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"DNA" "Osteochondroma" "" "0000118590" "00118127" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 13:28:57" "SEQ" "DNA" "Blood" "" "0000118591" "00118128" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 16:08:30" "DHPLC;SSCA" "DNA" "Blood" "" "0000118592" "00118129" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:34:41" "SSCA" "DNA" "Blood" "" "0000118593" "00118130" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:30:21" "SSCA" "DNA" "Blood" "" "0000118594" "00118131" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:18:27" "SSCA" "DNA" "" "" "0000118595" "00118132" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:19:17" "SEQ" "DNA" "" "" "0000118596" "00118133" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 16:06:27" "DHPLC;SSCA" "DNA" "Blood" "" "0000118597" "00118134" "1" "02213" "02033" "2009-02-18 13:06:48" "02033" "2009-02-23 13:29:15" "SEQ" "DNA" "" "" "0000118598" "00118135" "1" "02213" "02033" "2009-02-18 13:06:48" "02033" "2009-02-23 13:29:27" "SEQ" "DNA" "" "" "0000118599" "00118136" "1" "02216" "02216" "2013-03-06 10:33:43" "" "" "DHPLC;SEQ" "DNA" "" "" "0000118600" "00118137" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 13:29:44" "SEQ" "DNA" "Blood" "" "0000118601" "00118138" "1" "02215" "02215" "2009-11-16 14:25:29" "02215" "2017-02-20 10:42:43" "DHPLC" "DNA" "Blood" "" "0000118602" "00118139" "1" "02210" "02033" "2009-10-13 15:52:46" "" "" "DHPLC" "DNA" "Blood" "" "0000118603" "00118140" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 13:29:59" "SEQ" "DNA" "" "" "0000118604" "00118141" "1" "02214" "02033" "2009-03-06 10:44:49" "02033" "2009-03-06 20:39:16" "SEQ" "DNA" "Blood, osteochondroma" "" "0000118605" "00118142" "1" "02210" "02033" "2009-10-13 15:52:46" "" "" "SEQ" "DNA" "" "" "0000118606" "00118143" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:05:20" "DHPLC" "DNA" "Blood" "" 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"2009-02-18 13:06:48" "02033" "2009-02-23 13:46:22" "SEQ" "DNA" "" "" "0000118616" "00118153" "1" "02213" "02033" "2009-02-18 13:06:48" "02033" "2009-02-23 13:46:36" "SEQ" "DNA" "" "" "0000118617" "00118154" "1" "02213" "02033" "2009-02-18 13:06:48" "02033" "2009-02-23 13:52:19" "SEQ" "DNA" "" "" "0000118618" "00118155" "1" "02215" "02215" "2011-12-13 12:46:34" "02215" "2017-02-20 10:44:50" "DHPLC" "DNA" "Blood" "" "0000118619" "00118156" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-20 17:51:53" "SEQ" "DNA" "" "" "0000118620" "00118157" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 13:52:36" "SEQ" "DNA" "Blood" "" "0000118621" "00118158" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:19:02" "SEQ" "DNA" "" "" "0000118622" "00118159" "1" "02215" "02215" "2011-11-07 10:55:54" "02215" "2017-02-20 10:47:49" "DHPLC" "DNA" "Blood" "" "0000118623" "00118160" "1" "02210" "02033" "2010-10-01 12:10:16" "02033" "2010-10-01 12:35:46" "SEQ" "DNA" "" "" "0000118624" "00118161" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-08-04 12:50:12" "SEQ" "DNA" "Blood" "" "0000118625" "00118162" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:36:17" "SSCA" "DNA" "Blood" "" "0000118626" "00118163" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 13:53:39" "SEQ" "DNA" "Blood" "" "0000118627" "00118164" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-20 17:52:45" "SEQ" "DNA" "" "" "0000118628" "00118165" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-20 17:53:31" "SEQ" "DNA" "" "" "0000118629" "00118166" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:23:05" "SEQ" "DNA" "" "" "0000118630" "00118167" "1" "02215" "02215" "2011-11-07 10:11:02" "02215" "2017-02-20 10:49:00" "DHPLC" "DNA" "Blood" "" "0000118631" "00118168" "1" "02210" "02033" "2009-10-13 15:52:46" "02033" "2010-06-25 10:49:39" "SEQ" "DNA" "Blood" "" "0000118632" "00118169" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:20:15" "SEQ" "DNA" "" "" "0000118633" "00118170" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:32:37" "SSCA" "DNA" "Blood" "" "0000118634" "00118171" "1" "02220" "02220" "2016-10-03 11:40:08" "" "" "DHPLC" "DNA" "Blood" "" "0000118635" "00118172" "1" "02210" "02033" "2009-10-13 15:52:46" "" "" "SEQ" "DNA" "Blood" "" "0000118636" "00118173" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:19:32" "SEQ" "DNA" "" "" "0000118637" "00118174" "1" "02152" "02033" "2009-02-10 13:12:01" "02033" "2009-02-23 13:54:26" "SEQ" "DNA" "Blood" "" "0000118638" "00118175" "1" "02214" "02033" "2009-03-06 10:44:49" "" "" "SEQ" "DNA" "Blood, osteochondroma" "" "0000118639" "00118176" "1" "02215" "02215" "2011-11-30 14:46:56" "02215" "2017-02-20 10:49:59" "DHPLC" "DNA" "Blood" "" "0000118640" "00118177" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 13:54:42" "SEQ" "DNA" "Blood" "" "0000118641" "00118178" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-21 09:36:30" "SEQ" "DNA" "" "" "0000118642" "00118179" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 13:55:14" "SEQ" "DNA" "" "" "0000118643" "00118180" "1" "02216" "02216" "2013-05-02 15:46:51" "" "" "DHPLC;SEQ" "DNA" "" "" "0000118644" "00118181" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:08:13" "DHPLC" "DNA" "Blood" "" "0000118645" "00118182" "1" "02152" "02033" "2009-02-10 13:12:01" "02033" "2009-02-23 13:55:39" "SEQ" "DNA" "Blood" "" "0000118646" "00118183" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-21 09:37:42" "SEQ" "DNA" "" "" "0000118647" "00118184" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 13:56:08" "SEQ" "DNA" "Blood" "" "0000118648" "00118185" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:00:40" "DHPLC" "DNA" "Blood" "" "0000118649" "00118186" "1" "02214" "02214" "2009-10-22 22:16:33" "02033" "2009-10-23 09:00:06" "PCR" "DNA" "" "" "0000118650" "00118187" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-21 09:39:22" "SEQ" "DNA" "" "" "0000118651" "00118188" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 13:58:58" "SEQ" "DNA" "" "" "0000118652" "00118189" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 16:10:00" "DHPLC;SSCA" "DNA" "Blood" "" "0000118653" "00118190" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 13:15:10" "SSCA" "DNA" "Chondrosarcoma" "" "0000118654" "00118191" "1" "02152" "02033" "2009-02-10 13:12:01" "02033" "2009-02-23 13:59:26" "SEQ" "DNA" "Blood" "" "0000118655" "00118192" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 13:57:11" "SEQ" "DNA" "Blood" "" "0000118656" "00118193" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-03-05 14:35:32" "SEQ" "DNA" "" "" "0000118657" "00118194" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 13:59:58" "SEQ" "DNA" "Blood" "" "0000118658" "00118195" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 14:00:29" "SEQ" "DNA" "Blood" "" "0000118659" "00118196" "1" "02210" "02033" "2009-10-13 15:52:46" "" "" "SEQ" "DNA" "" "" "0000118660" "00118197" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 16:09:28" "DHPLC;SSCA" "DNA" "Blood" "" "0000118661" "00118198" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 16:17:56" "SEQ" "DNA" "Blood" "" "0000118662" "00118199" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:04:10" "SEQ" "DNA" "Blood" "" "0000118663" "00118200" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-03-05 14:50:28" "MLPA;SEQ" "DNA" "Blood" "" "0000118664" "00118201" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:01:08" "DHPLC" "DNA" "Blood" "" "0000118665" "00118202" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 14:01:00" "SEQ" "DNA" "Blood" "" "0000118666" "00118203" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-21 09:38:33" "SEQ" "DNA" "" "" "0000118667" "00118204" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-21 09:40:04" "SEQ" "DNA" "" "" "0000118668" "00118205" "1" "02152" "02033" "2009-02-10 13:12:01" "02033" "2009-02-23 14:02:05" "SEQ" "DNA" "Blood" "" "0000118669" "00118206" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-21 09:40:46" "SEQ" "DNA" "" "" "0000118670" "00118207" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 14:01:51" "SEQ" "DNA" "Blood" "" "0000118671" "00118208" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 16:04:00" "MLPA" "DNA" "" "" "0000118672" "00118209" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 14:02:38" "SEQ" "DNA" "Blood" "" "0000118673" "00118210" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:03:06" "DHPLC" "DNA" "" "" "0000118674" "00118211" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-21 09:42:35" "SEQ" "DNA" "" "" "0000118675" "00118212" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-21 09:43:53" "SEQ" "DNA" "" "" "0000118676" "00118213" "1" "02210" "02033" "2009-10-13 15:52:46" "" "" "SEQ" "DNA" "" "" "0000118677" "00118214" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:01:50" "DHPLC" "DNA" "Blood" "" "0000118678" "00118215" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:02:37" "DHPLC" "DNA" "Blood" "" "0000118679" "00118216" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 14:03:26" "SEQ" "DNA" "Blood" "" "0000118680" "00118217" "1" "02210" "02033" "2010-10-01 12:14:25" "02033" "2010-10-01 12:36:01" "SEQ" "DNA" "" "" "0000118681" "00118218" "1" "02210" "02033" "2011-01-21 13:58:25" "02033" "2011-01-21 14:46:08" "SEQ" "DNA" "Blood" "" "0000118682" "00118219" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-21 09:44:59" "SEQ" "DNA" "" "" "0000118683" "00118220" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:06:18" "DHPLC" "DNA" "" "" "0000118684" "00118221" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 16:23:30" "SEQ" "DNA" "" "" "0000118686" "00118223" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:02:53" "DHPLC" "DNA" "Blood" "" "0000118687" "00118224" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:31:52" "SSCA" "DNA" "Blood" "" "0000118688" "00118225" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 16:23:08" "SEQ" "DNA" "" "" "0000118689" "00118226" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 16:07:19" "DHPLC;SSCA" "DNA" "Blood" "" "0000118690" "00118227" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:33:55" "SSCA" "DNA" "Blood" "" "0000118691" "00118228" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:32:21" "SSCA" "DNA" "Blood" "" "0000118692" "00118229" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 13:09:31" "SEQ" "DNA" "Blood" "" "0000118693" "00118230" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:22:21" "SEQ" "DNA" "Blood" "" "0000118694" "00118231" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:07:53" "DHPLC" "DNA" "Blood" "" "0000118695" "00118232" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-03-05 14:50:28" "MLPA;SEQ" "DNA" "Blood" "" "0000118696" "00118233" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:03:25" "DHPLC" "DNA" "Blood" "" "0000118697" "00118234" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:03:55" "DHPLC" "DNA" "Blood" "" "0000118698" "00118235" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 14:04:12" "SEQ" "DNA" "Blood" "" "0000118699" "00118236" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 14:04:28" "SEQ" "DNA" "Blood" "" "0000118700" "00118237" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 14:04:42" "SEQ" "DNA" "Blood" "" "0000118701" "00118238" "1" "02152" "02033" "2009-02-10 13:12:01" "02033" "2009-02-23 14:04:56" "SEQ" "DNA" "Blood" "" "0000118702" "00118239" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-21 09:45:57" "SEQ" "DNA" "" "" "0000118703" "00118240" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-21 09:46:43" "SEQ" "DNA" "" "" "0000118704" "00118241" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-21 09:47:18" "SEQ" "DNA" "" "" "0000118705" "00118242" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-21 09:48:15" "SEQ" "DNA" "" "" "0000118706" "00118243" "1" "02213" "02033" "2009-02-18 13:06:48" "02033" "2009-02-23 14:05:58" "SEQ" "DNA" "" "" "0000118707" "00118244" "1" "02213" "02033" "2009-02-18 13:06:48" "02033" "2009-02-23 14:06:12" "SEQ" "DNA" "" "" "0000118708" "00118245" "1" "02213" "02033" "2009-02-18 13:06:48" "02033" "2009-02-23 14:06:24" "SEQ" "DNA" "" "" "0000118709" "00118246" "1" "02210" "02033" "2009-03-06 10:44:49" "02033" "2009-03-06 20:37:40" "SEQ" "DNA" "Blood" "" "0000118710" "00118247" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 14:06:58" "SEQ" "DNA" "" "" "0000118711" "00118248" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:20:31" "SEQ" "DNA" "" "" "0000118712" "00118249" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 16:09:42" "DHPLC;SSCA" "DNA" "Blood" "" "0000118713" "00118250" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:32:53" "SSCA" "DNA" "Blood" "" "0000118714" "00118251" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:09:11" "DHPLC" "DNA" "Blood" "" "0000118715" "00118252" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-03-05 14:50:28" "MLPA;SEQ" "DNA" "Blood" "" "0000118716" "00118253" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:05:35" "DHPLC" "DNA" "" "" "0000118717" "00118254" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:06:03" "DHPLC" "DNA" "Blood" "" "0000118718" "00118255" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 14:07:15" "SEQ" "DNA" "Blood" "" "0000118719" "00118256" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 14:07:29" "SEQ" "DNA" "Blood" "" "0000118720" "00118257" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-21 09:49:08" "SEQ" "DNA" "" "" "0000118721" "00118258" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-21 09:58:32" "SEQ" "DNA" "" "" "0000118722" "00118259" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-21 09:59:18" "SEQ" "DNA" "" "" "0000118723" "00118260" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-21 10:00:25" "SEQ" "DNA" "" "" "0000118724" "00118261" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-21 10:01:30" "SEQ" "DNA" "" "" "0000118725" "00118262" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-21 10:02:18" "SEQ" "DNA" "" "" "0000118726" "00118263" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-21 10:03:08" "SEQ" "DNA" "" "" "0000118727" "00118264" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-21 10:03:55" "SEQ" "DNA" "" "" "0000118728" "00118265" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-21 10:04:35" "SEQ" "DNA" "" "" "0000118729" "00118266" "1" "02213" "02033" "2009-02-18 13:06:48" "02033" "2009-02-23 14:13:44" "SEQ" "DNA" "" "" "0000118730" "00118267" "1" "02213" "02033" "2009-02-18 13:06:48" "02033" "2009-02-23 14:13:59" "SEQ" "DNA" "" "" "0000118731" "00118268" "1" "02213" "02033" "2009-02-18 13:06:48" "02033" "2009-02-23 14:14:12" "SEQ" "DNA" "" "" "0000118732" "00118269" "1" "02213" "02033" "2009-02-18 13:06:48" "02033" "2009-02-23 14:14:22" "SEQ" "DNA" "" "" "0000118733" "00118270" "1" "02213" "02033" "2009-02-18 13:06:48" "02033" "2009-02-23 14:14:33" "SEQ" "DNA" "" "" "0000118734" "00118271" "1" "02210" "02033" "2009-03-06 10:44:49" "" "" "SEQ" "DNA" "Blood" "" "0000118735" "00118272" "1" "02210" "02033" "2009-03-06 10:44:49" "02033" "2009-03-06 20:37:51" "SEQ" "DNA" "Blood" "" "0000118736" "00118273" "1" "02210" "02033" "2009-03-06 10:44:49" "02033" "2009-03-06 20:38:02" "SEQ" "DNA" "Blood" "" "0000118737" "00118274" "1" "02215" "02215" "2010-06-08 17:15:36" "02033" "2010-06-09 10:11:45" "DHPLC" "DNA" "Blood" "" "0000118738" "00118275" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 14:08:34" "SEQ" "DNA" "Blood" "" "0000118739" "00118276" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-21 10:05:31" "SEQ" "DNA" "" "" "0000118740" "00118277" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:19:45" "SEQ" "DNA" "Blood" "" "0000118741" "00118278" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 16:07:52" "DHPLC;SSCA" "DNA" "Blood" "" "0000118742" "00118279" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:32:05" "SSCA" "DNA" "Blood" "" "0000118743" "00118280" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:33:09" "SSCA" "DNA" "Blood" "" "0000118744" "00118281" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:37:08" "SSCA" "DNA" "Blood" "" "0000118745" "00118282" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-04-30 10:06:35" "SEQ" "DNA" "Blood" "" "0000118746" "00118283" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:05:50" "DHPLC" "DNA" "Blood" "" "0000118747" "00118284" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:06:33" "DHPLC" "DNA" "Blood" "" "0000118748" "00118285" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:08:29" "SEQ" "DNA" "Blood" "" "0000118749" "00118286" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 14:07:43" "SEQ" "DNA" "Blood" "" "0000118750" "00118287" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 14:08:04" "SEQ" "DNA" "Blood" "" "0000118751" "00118288" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 14:08:18" "SEQ" "DNA" "Blood" "" "0000118752" "00118289" "1" "02152" "02033" "2009-02-10 13:12:01" "02033" "2009-02-23 14:08:51" "SEQ" "DNA" "Blood" "" "0000118753" "00118290" "1" "02152" "02033" "2009-02-10 13:12:01" "02033" "2009-02-23 14:09:10" "SEQ" "DNA" "Blood" "" "0000118754" "00118291" "1" "02152" "02033" "2009-02-10 13:12:01" "02033" "2009-02-23 14:09:29" "SEQ" "DNA" "Blood" "" "0000118755" "00118292" "1" "02152" "02033" "2009-02-10 13:12:01" "02033" "2009-02-23 14:09:42" "SEQ" "DNA" "Blood" "" "0000118756" "00118293" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-21 10:06:20" "SEQ" "DNA" "" "" "0000118757" "00118294" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-21 10:07:01" "SEQ" "DNA" "" "" "0000118758" "00118295" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-21 10:09:02" "SEQ" "DNA" "" "" "0000118759" "00118296" "1" "02215" "02215" "2011-12-13 12:09:58" "02215" "2017-02-20 10:50:37" "DHPLC" "DNA" "Blood" "" "0000118760" "00118297" "1" "02213" "02033" "2009-02-18 13:06:48" "02033" "2009-02-23 14:14:55" "SEQ" "DNA" "" "" "0000118761" "00118298" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:10:00" "DHPLC" "DNA" "" "" "0000118762" "00118299" "1" "02152" "02033" "2009-02-10 13:12:01" "02033" "2009-02-23 14:15:27" "SEQ" "DNA" "Blood" "" "0000118763" "00118300" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-21 10:09:59" "SEQ" "DNA" "" "" "0000118764" "00118301" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-03-05 14:50:28" "MLPA;SEQ" "DNA" "Blood" "" "0000118765" "00118302" "1" "02152" "02033" "2009-02-10 13:12:01" "02033" "2009-02-23 14:15:12" "SEQ" "DNA" "Blood" "" "0000118766" "00118303" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:33:26" "SSCA" "DNA" "Blood" "" "0000118767" "00118304" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 16:08:09" "DHPLC;SSCA" "DNA" "Blood" "" "0000118768" "00118305" "1" "02152" "02033" "2009-02-10 13:12:01" "02033" "2009-02-23 14:16:00" "SEQ" "DNA" "Blood" "" "0000118769" "00118306" "1" "02215" "02215" "2009-10-21 13:31:26" "02215" "2017-02-20 10:51:25" "DHPLC" "DNA" "Blood" "" "0000118770" "00118307" "1" "02215" "02215" "2010-02-15 10:44:31" "02215" "2017-02-20 10:52:27" "DHPLC" "DNA" "Blood" "" "0000118771" "00118308" "1" "02210" "02033" "2010-02-01 11:21:35" "" "" "SEQ" "DNA" "Blood" "" "0000118772" "00118309" "1" "02214" "02033" "2009-03-06 10:44:49" "02033" "2009-03-06 20:39:36" "SEQ" "DNA" "Blood" "" "0000118773" "00118310" "1" "02210" "02033" "2009-10-13 15:52:46" "" "" "SEQ" "DNA" "Blood" "" "0000118774" "00118311" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-21 10:10:48" "SEQ" "DNA" "" "" "0000118775" "00118312" "1" "02215" "02215" "2010-06-08 17:19:26" "02033" "2010-06-09 10:13:17" "DHPLC" "DNA" "Blood" "" "0000118776" "00118313" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-21 10:11:42" "SEQ" "DNA" "" "" "0000118777" "00118314" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:21:35" "SEQ" "DNA" "" "" "0000118778" "00118315" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-03-05 14:50:28" "MLPA;SEQ" "DNA" "Blood" "" "0000118779" "00118316" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:06:46" "DHPLC" "DNA" "" "" "0000118780" "00118317" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 16:10:47" "DHPLC;SSCA" "DNA" "Blood" "" "0000118781" "00118318" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:07:00" "DHPLC" "DNA" "Blood" "" "0000118782" "00118319" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 14:16:32" "SEQ" "DNA" "Blood" "" "0000118783" "00118320" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:09:25" "SEQ" "DNA" "Blood" "" "0000118784" "00118321" "1" "02210" "02033" "2009-12-04 11:28:02" "02033" "2009-12-04 11:29:08" "SEQ" "DNA" "Blood" "" "0000118785" "00118322" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-21 10:12:43" "SEQ" "DNA" "" "" "0000118786" "00118323" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-21 10:13:48" "SEQ" "DNA" "" "" "0000118787" "00118324" "1" "02210" "02033" "2009-10-13 15:52:46" "02033" "2010-05-20 12:49:51" "DHPLC" "DNA" "Blood" "" "0000118788" "00118325" "1" "02210" "02033" "2010-05-20 12:44:43" "" "" "DHPLC" "DNA" "Blood" "" "0000118789" "00118326" "1" "02210" "02033" "2009-10-13 15:52:46" "" "" "SEQ" "DNA" "Blood" "" "0000118790" "00118327" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:10:18" "DHPLC" "DNA" "Blood" "" "0000118791" "00118328" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-25 10:31:23" "SEQ" "DNA" "" "" "0000118792" "00118329" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-25 10:32:35" "SSCA" "DNA" "Blood" "" "0000118793" "00118330" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-21 10:14:33" "SEQ" "DNA" "" "" "0000118794" "00118331" "1" "02215" "02215" "2010-03-17 16:34:23" "02033" "2010-03-18 08:40:33" "DHPLC" "DNA" "Blood" "" "0000118795" "00118332" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 14:17:43" "SEQ" "DNA" "Blood" "" "0000118796" "00118333" "1" "02210" "02033" "2010-02-01 11:02:29" "" "" "SEQ" "DNA" "Blood" "" "0000118797" "00118334" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:26:11" "SEQ" "DNA" "" "" "0000118798" "00118335" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-21 10:15:15" "SEQ" "DNA" "" "" "0000118799" "00118336" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 14:18:10" "SEQ" "DNA" "" "" "0000118800" "00118337" "1" "02152" "02033" "2009-02-10 13:12:01" "02033" "2009-02-23 14:18:27" "SEQ" "DNA" "Blood" "" "0000118801" "00118338" "1" "02152" "02033" "2009-02-10 13:12:01" "02033" "2009-02-23 14:18:50" "SEQ" "DNA" "Blood" "" "0000118802" "00118339" "1" "02210" "02033" "2010-10-01 12:01:22" "02033" "2010-10-01 12:34:11" "SEQ" "DNA" "" "" "0000118803" "00118340" "1" "02152" "02033" "2009-02-10 13:12:01" "02033" "2009-02-23 14:19:05" "SEQ" "DNA" "Blood" "" "0000118804" "00118341" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 16:23:58" "SEQ" "DNA" "" "" "0000118805" "00118342" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-21 10:16:16" "SEQ" "DNA" "" "" "0000118806" "00118343" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-21 10:17:00" "SEQ" "DNA" "" "" "0000118807" "00118344" "1" "02152" "02033" "2009-02-10 13:12:01" "02033" "2009-02-23 14:19:49" "SEQ" "DNA" "Blood" "" "0000118808" "00118345" "1" "02210" "02033" "2010-02-01 11:27:26" "02033" "2010-02-01 12:05:44" "SEQ" "DNA" "Blood" "" "0000118809" "00118346" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:41:53" "SSCA" "DNA" "Blood" "" "0000118810" "00118347" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-03-05 14:50:28" "MLPA;SEQ" "DNA" "Blood" "" "0000118811" "00118348" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:10:37" "DHPLC" "DNA" "" "" "0000118812" "00118349" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 14:20:21" "SEQ" "DNA" "Blood" "" "0000118813" "00118350" "1" 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13:08:44" "02033" "2009-02-23 15:40:03" "SSCA" "DNA" "" "" "0000118831" "00118368" "1" "02215" "02215" "2009-11-16 14:27:39" "02215" "2017-02-20 10:55:21" "DHPLC" "DNA" "Blood" "" "0000118832" "00118369" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:21:51" "SEQ" "DNA" "" "" "0000118833" "00118370" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:22:44" "SSCA" "DNA" "" "" "0000118834" "00118371" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:34:11" "SSCA" "DNA" "Blood" "" "0000118835" "00118372" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 14:26:01" "SEQ" "DNA" "Blood" "" "0000118836" "00118373" "1" "02152" "02033" "2009-02-10 13:12:01" "02033" "2009-02-23 14:26:18" "SEQ" "DNA" "Blood" "" "0000118837" "00118374" "1" "02152" "02033" "2009-02-10 13:12:01" "02033" "2009-02-23 14:26:32" "SEQ" "DNA" "Blood" "" "0000118838" "00118375" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-21 10:54:13" "SEQ" "DNA" "" "" 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13:14:43" "02212" "2017-02-21 13:25:45" "SEQ" "DNA" "" "" "0000118865" "00118402" "1" "02215" "02215" "2009-11-16 14:23:46" "02215" "2017-02-20 10:57:45" "DHPLC" "DNA" "Blood" "" "0000118866" "00118403" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-21 13:26:34" "SEQ" "DNA" "" "" "0000118867" "00118404" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-21 13:31:30" "SEQ" "DNA" "" "" "0000118868" "00118405" "1" "02213" "02033" "2009-02-18 13:06:48" "02033" "2009-02-23 14:32:37" "SEQ" "DNA" "" "" "0000118869" "00118406" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:49:25" "SSCA" "DNA" "Blood" "" "0000118870" "00118407" "1" "02210" "02033" "2009-10-13 15:52:46" "" "" "SEQ" "DNA" "Blood" "" "0000118871" "00118408" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:34:58" "SSCA" "DNA" "Blood" "" "0000118872" "00118409" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 14:32:50" "SEQ" "DNA" "Blood" "" "0000118873" "00118410" 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"DNA" "" "" "0000118916" "00118453" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:23:57" "SEQ" "DNA" "" "" "0000118917" "00118454" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 14:37:19" "SEQ" "DNA" "" "" "0000118918" "00118455" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-21 13:39:41" "SEQ" "DNA" "" "" "0000118919" "00118456" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-21 13:52:32" "SEQ" "DNA" "" "" "0000118920" "00118457" "1" "02210" "02033" "2009-10-26 12:56:36" "02033" "2009-10-26 12:57:25" "SEQ" "DNA" "Blood" "" "0000118921" "00118458" "1" "02215" "02215" "2010-02-15 10:42:48" "02215" "2017-02-20 10:58:36" "DHPLC" "DNA" "Blood" "" "0000118922" "00118459" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:42:52" "SSCA" "DNA" "Blood" "" "0000118923" "00118460" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:23:22" "SEQ" "DNA" "" "" "0000118924" "00118461" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-21 13:57:00" "SEQ" "DNA" "" "" "0000118925" "00118462" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-03-06 13:19:09" "SSCA" "DNA" "Blood" "" "0000118927" "00118464" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 16:14:13" "DHPLC;SSCA" "DNA" "Blood" "" "0000118928" "00118465" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:54:09" "DHPLC" "DNA" "Blood" "" "0000118929" "00118466" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 14:38:39" "SEQ" "DNA" "Blood" "" "0000118930" "00118467" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-21 13:58:03" "SEQ" "DNA" "" "" "0000118931" "00118468" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-21 13:58:51" "SEQ" "DNA" "" "" "0000118932" "00118469" "1" "02210" "02033" "2010-02-01 11:05:54" "" "" "SEQ" "DNA" "Blood" "" "0000118933" "00118470" "1" "02215" "02215" "2011-12-13 12:15:33" "02215" "2017-02-20 10:59:38" "DHPLC" "DNA" "Blood" "" "0000118934" 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"2009-02-18 13:06:48" "02033" "2009-02-23 14:39:58" "SEQ" "DNA" "" "" "0000118943" "00118480" "1" "02210" "02033" "2009-10-13 15:52:46" "" "" "SEQ" "DNA" "Blood" "" "0000118944" "00118481" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:21:04" "SEQ" "DNA" "Blood" "" "0000118945" "00118482" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:24:27" "SEQ" "DNA" "Blood" "" "0000118946" "00118483" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 16:24:26" "SEQ" "DNA" "" "" "0000118947" "00118484" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 16:24:39" "SEQ" "DNA" "" "" "0000118948" "00118485" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:24:12" "SEQ" "DNA" "" "" "0000118949" "00118486" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:40:18" "SSCA" "DNA" "Blood" "" "0000118950" "00118487" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-03-06 13:19:09" "SSCA" "DNA" "Blood" "" "0000118951" "00118488" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 13:11:56" "SEQ" "DNA" "Blood" "" "0000118952" "00118489" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 16:14:32" "DHPLC;SSCA" "DNA" "Blood" "" "0000118953" "00118490" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 16:11:23" "DHPLC;SSCA" "DNA" "Blood" "" "0000118954" "00118491" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:42:25" "SSCA" "DNA" "Blood" "" "0000118955" "00118492" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:46:28" "SSCA" "DNA" "Blood" "" "0000118956" "00118493" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:53:23" "DHPLC" "DNA" "Blood" "" "0000118957" "00118494" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:52:53" "DHPLC" "DNA" "Blood" "" "0000118958" "00118495" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 14:40:25" "SEQ" "DNA" "Blood" "" "0000118959" "00118496" "1" "02210" 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"DNA" "" "" "0000118968" "00118505" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-22 10:37:39" "SEQ" "DNA" "" "" "0000118969" "00118506" "1" "02213" "02033" "2009-02-18 13:06:48" "02033" "2009-02-23 14:43:30" "SEQ" "DNA" "" "" "0000118970" "00118507" "1" "02214" "02033" "2009-03-06 10:44:49" "02033" "2009-03-06 20:39:46" "SEQ" "DNA" "Blood, osteochondroma" "" "0000118971" "00118508" "1" "02210" "02033" "2009-10-13 15:52:46" "" "" "SEQ" "DNA" "Blood" "" "0000118972" "00118509" "1" "02210" "02033" "2009-10-13 15:52:46" "" "" "SEQ" "DNA" "Blood" "" "0000118973" "00118510" "1" "02210" "02033" "2009-10-13 15:52:46" "" "" "SEQ" "DNA" "Blood" "" "0000118974" "00118511" "1" "02215" "02215" "2009-10-20 17:37:29" "02215" "2017-02-20 11:00:24" "DHPLC" "DNA" "Blood" "" "0000118975" "00118512" "1" "02215" "02215" "2009-11-16 14:19:56" "02215" "2017-02-20 11:01:08" "DHPLC" "DNA" "Blood" "" "0000118976" "00118513" "1" "02210" "02033" "2010-05-20 12:43:42" "" "" "DHPLC" "DNA" "Blood" "" 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"02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 14:44:44" "SEQ" "DNA" "Blood" "" "0000118995" "00118532" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:23:41" "SEQ" "DNA" "Blood" "" "0000118996" "00118533" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 16:14:50" "DHPLC;SSCA" "DNA" "Blood" "" "0000118997" "00118534" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:52:16" "DHPLC" "DNA" "Blood" "" "0000118998" "00118535" "1" "02213" "02033" "2009-02-18 13:06:48" "02033" "2009-02-23 14:45:30" "SEQ" "DNA" "" "" "0000118999" "00118536" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 14:45:19" "SEQ" "DNA" "Blood" "" "0000119000" "00118537" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:52:03" "DHPLC" "DNA" "Blood" "" "0000119001" "00118538" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-03-05 14:50:28" "MLPA;SEQ" "DNA" "Blood" "" "0000119002" "00118539" "1" "02215" "02215" "2010-02-15 10:46:14" "02215" "2017-02-20 11:03:39" "DHPLC" "DNA" "Blood" "" "0000119003" "00118540" "1" "02152" "02033" "2009-02-10 13:12:01" "02033" "2009-02-23 14:45:44" "SEQ" "DNA" "Blood" "" "0000119004" "00118541" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 13:57:29" "SEQ" "DNA" "Blood" "" "0000119005" "00118542" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:54:52" "DHPLC" "DNA" "Blood" "" "0000119006" "00118543" "1" "02210" "02033" "2009-10-13 15:52:46" "" "" "SEQ" "DNA" "" "" "0000119007" "00118544" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:54:27" "DHPLC" "DNA" "Blood" "" "0000119008" "00118545" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:43:05" "SSCA" "DNA" "Blood" "" "0000119009" "00118546" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 14:46:03" "SEQ" "DNA" "Blood" "" "0000119010" "00118547" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-22 10:39:04" "SEQ" "DNA" "" "" "0000119011" "00118548" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 14:46:30" "SEQ" "DNA" "" "" "0000119012" "00118549" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:54:38" "DHPLC" "DNA" "" "" "0000119013" "00118550" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:55:12" "DHPLC" "DNA" "Blood" "" "0000119014" "00118551" "1" "02215" "02215" "2009-10-21 13:20:12" "02215" "2017-02-20 11:04:29" "SEQ" "DNA" "Blood" "" "0000119015" "00118552" "1" "02172" "02172" "2015-04-13 12:59:12" "" "" "SEQ" "DNA" "Blood" "" "0000119016" "00118553" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-22 10:39:51" "SEQ" "DNA" "" "" "0000119017" "00118554" "1" "02215" "02215" "2011-11-30 14:14:19" "02215" "2017-02-20 11:05:15" "DHPLC" "DNA" "Blood" "" "0000119018" "00118555" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:57:13" "DHPLC" "DNA" "Blood" "" "0000119019" "00118556" "1" "02213" "02033" "2009-02-18 13:06:48" "02033" "2009-02-23 14:47:20" "SEQ" "DNA" "" "" "0000119020" "00118557" "1" "02172" "02172" "2015-03-12 12:23:53" "" "" "SEQ" "DNA" "Blood" "" "0000119021" "00118558" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:25:20" "SEQ" "DNA" "" "" "0000119022" "00118559" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 16:02:29" "DHPLC" "DNA" "Blood" "" "0000119023" "00118560" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:55:25" "DHPLC" "DNA" "Blood" "" "0000119024" "00118561" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 16:12:58" "DHPLC;SSCA" "DNA" "Blood" "" "0000119025" "00118562" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-22 10:40:38" "SEQ" "DNA" "" "" "0000119026" "00118563" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-22 10:41:29" "SEQ" "DNA" "" "" "0000119027" "00118564" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:44:10" "SSCA" "DNA" "" "" "0000119028" "00118565" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:56:47" "DHPLC" "DNA" "" "" "0000119029" "00118566" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:44:59" "SSCA" "DNA" "Blood" "" "0000119030" "00118567" "1" "02210" "02033" "2010-05-18 12:24:51" "02033" "2010-05-18 12:37:30" "DHPLC" "DNA" "Blood" "" "0000119031" "00118568" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 14:47:48" "SEQ" "DNA" "Blood" "" "0000119032" "00118569" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 14:48:07" "SEQ" "DNA" "" "" "0000119033" "00118570" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-22 10:42:20" "SEQ" "DNA" "" "" "0000119034" "00118571" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-22 10:43:43" "SEQ" "DNA" "" "" "0000119035" "00118572" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-22 10:44:24" "SEQ" "DNA" "" "" "0000119036" "00118573" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:58:00" "DHPLC" "DNA" "Blood" "" "0000119037" "00118574" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 14:49:11" "SEQ" "DNA" "Blood" "" "0000119038" "00118575" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-22 10:45:04" "SEQ" "DNA" "" "" "0000119039" "00118576" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-03-05 14:35:46" "SEQ" "DNA" "" "" "0000119040" "00118577" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 14:50:02" "SEQ" "DNA" "Blood" "" "0000119041" "00118578" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:46:46" "SSCA" "DNA" "Blood" "" "0000119042" "00118579" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:55:40" "DHPLC" "DNA" "Blood" "" "0000119043" "00118580" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:57:00" "DHPLC" "DNA" "Blood" "" "0000119044" "00118581" "1" "02210" "02033" "2009-10-26 13:56:03" "" "" "SEQ" "DNA" "Blood" "" "0000119045" "00118582" "1" "02210" "02033" "2009-10-26 14:12:15" "" "" "SEQ" "DNA" "Blood" "" "0000119046" "00118583" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-22 10:45:50" "SEQ" "DNA" "" "" "0000119047" "00118584" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-03-05 14:50:28" "MLPA;SEQ" "DNA" "Blood" "" "0000119048" "00118585" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 13:57:50" "SEQ" "DNA" "Blood" "" "0000119049" "00118586" "1" "02210" "02033" "2009-10-13 15:52:46" "" "" "SEQ" "DNA" "" "" "0000119050" "00118587" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 14:50:42" "SEQ" "DNA" "Blood" "" "0000119051" "00118588" "1" "02210" "02033" "2010-05-20 12:45:32" "" "" "DHPLC" "DNA" "Blood" "" "0000119052" "00118589" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:57:46" "DHPLC" "DNA" "Blood" "" "0000119053" "00118590" "1" "02215" "02215" "2010-03-17 16:32:41" "02033" "2010-03-18 08:41:45" "DHPLC" "DNA" "Blood" "" "0000119054" "00118591" "1" "02213" "02033" "2009-02-18 13:06:48" "02033" "2009-02-23 14:51:21" "SEQ" "DNA" "" "" "0000119055" "00118592" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:57:32" "DHPLC" "DNA" "Blood" "" "0000119056" "00118593" "1" "02210" "02033" "2009-10-13 15:52:46" "" "" "SEQ" "DNA" "Blood" "" "0000119057" "00118594" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 14:51:35" "SEQ" "DNA" "Blood" "" "0000119058" "00118595" "1" "02215" "02215" "2010-02-15 10:37:26" "02215" "2017-02-20 11:06:02" "DHPLC" "DNA" "Blood" "" "0000119059" "00118596" "1" "02215" "02215" "2010-06-08 17:25:47" "02033" "2010-06-09 10:14:47" "DHPLC" "DNA" "Blood" "" "0000119060" "00118597" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:58:49" "DHPLC" "DNA" "Blood" "" "0000119061" "00118598" "1" "02210" "02033" "2009-10-13 15:52:46" "" "" "SEQ" "DNA" "Blood" "" "0000119062" "00118599" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:26:37" "SEQ" "DNA" "" "" "0000119063" "00118600" "1" "02210" "02033" "2009-03-06 10:44:49" "" "" "SEQ" "DNA" "Blood" "" "0000119064" "00118601" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:59:03" "DHPLC" "DNA" "" "" "0000119065" "00118602" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:59:17" "DHPLC" "DNA" "" "" "0000119066" "00118603" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:44:39" "SSCA" "DNA" "Blood" "" "0000119067" "00118604" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-22 10:46:59" "SEQ" "DNA" "" "" "0000119068" "00118605" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 13:12:29" "SEQ" "DNA" "Blood" "" "0000119069" "00118606" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-22 10:47:52" "SEQ" "DNA" "" "" "0000119070" "00118607" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-22 10:48:37" "SEQ" "DNA" "" "" "0000119071" "00118608" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-25 10:32:21" "SEQ" "DNA" "" "" "0000119072" "00118609" "1" "02210" "02033" "2011-02-22 19:46:54" "02033" "2011-02-22 19:47:06" "SEQ" "DNA" "Blood" "" "0000119073" "00118610" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:44:23" "SSCA" "DNA" "Blood" "" "0000119074" "00118611" "1" "02210" "02033" "2010-10-01 11:46:47" "02033" "2010-10-01 12:35:23" "SEQ" "DNA" "" "" "0000119075" "00118612" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:14:01" "SSCA" "DNA" "Blood" "" "0000119076" "00118613" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 14:52:38" "SEQ" "DNA" "Blood" "" "0000119077" "00118614" "1" "02152" "02033" "2009-02-10 13:12:01" "02033" "2009-02-23 14:52:52" "SEQ" "DNA" "Blood" "" "0000119078" "00118615" "1" "02210" "02033" "2010-05-25 10:01:47" "" "" "DHPLC" "DNA" "Blood" "" "0000119079" "00118616" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 13:12:46" "SEQ" "DNA" "Blood" "" "0000119080" "00118617" "1" "02152" "02033" "2009-02-10 13:12:01" "02033" "2009-02-23 14:53:05" "SEQ" "DNA" "Blood" "" "0000119081" "00118618" "1" "02210" "02033" "2009-10-13 15:52:46" "" "" "SEQ" "DNA" "" "" "0000119082" "00118619" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:12:59" "SSCA" "DNA" "Blood" "" "0000119083" "00118620" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:59:46" "DHPLC" "DNA" "Blood" "" "0000119084" "00118621" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-22 10:52:13" "SEQ" "DNA" "" "" "0000119085" "00118622" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 16:13:34" "DHPLC;SSCA" "DNA" "Blood" "" "0000119086" "00118623" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 16:02:45" "DHPLC" "DNA" "Blood" "" "0000119087" "00118624" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-22 10:53:02" "SEQ" "DNA" "" "" "0000119088" "00118625" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-22 10:53:46" "SEQ" "DNA" "" "" "0000119089" "00118626" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:25:02" "SEQ" "DNA" "" "" "0000119090" "00118627" "1" "02215" "02215" "2012-04-05 16:01:03" "02215" "2017-02-20 11:06:56" "DHPLC" "DNA" "Blood" "" "0000119091" "00118628" "1" "02215" "02215" "2011-11-08 10:45:58" "02215" "2017-02-20 11:07:40" "DHPLC" "DNA" "Blood" "" "0000119092" "00118629" "1" "02210" "02033" "2010-08-04 13:22:42" "" "" "SEQ" "DNA" "Blood" "" "0000119093" "00118630" "1" "02210" "02033" "2010-08-04 13:19:32" "" "" "SEQ" "DNA" "Blood" "" "0000119094" "00118631" "1" "02210" "02033" "2010-10-01 11:48:51" "02033" "2010-10-01 12:37:23" "SEQ" "DNA" "" "" "0000119095" "00118632" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-22 10:54:25" "SEQ" "DNA" "" "" "0000119096" "00118633" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-03-05 14:50:28" "SEQ" "DNA" "Blood" "" "0000119097" "00118634" "1" "02210" "02033" "2009-10-13 15:52:46" "" "" "SEQ" "DNA" "" "" "0000119098" "00118635" "1" "02210" "02033" "2011-02-22 19:41:38" "02033" "2011-02-22 19:47:36" "SEQ" "DNA" "Blood" "" "0000119099" "00118636" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:26:52" "SEQ" "DNA" "Blood" "" "0000119100" "00118637" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:27:07" "SEQ" "DNA" "Blood" "" "0000119101" "00118638" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:27:23" "SEQ" "DNA" "" "" "0000119102" "00118639" "1" "02152" "02033" "2009-02-10 13:12:01" "02033" "2009-02-23 14:54:35" "SEQ" "DNA" "Blood" "" "0000119103" "00118640" "1" "02152" "02033" "2009-02-10 13:12:01" "02033" "2009-02-23 14:54:50" "SEQ" "DNA" "Blood" "" "0000119104" "00118641" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:13:40" "SEQ" "DNA" "Blood" "" "0000119105" "00118642" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-22 10:55:09" "SEQ" "DNA" "" "" "0000119106" "00118643" "1" "02210" "02033" "2011-01-21 13:47:14" "02033" "2011-01-21 14:46:46" "SEQ" "DNA" "Blood" "" "0000119107" "00118644" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 16:00:26" "DHPLC" "DNA" "Blood" "" "0000119108" "00118645" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:59:30" "DHPLC" "DNA" "" "" "0000119109" "00118646" "1" "02210" "02033" "2009-10-13 15:52:46" "" "" "SEQ" "DNA" "" "" "0000119110" "00118647" "1" "02210" "02033" "2010-07-30 09:52:44" "02033" "2010-07-30 09:55:17" "SEQ" "DNA" "" "" "0000119111" "00118648" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 16:03:41" "SSCA" "DNA" "Blood" "" "0000119112" "00118649" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 16:01:26" "DHPLC" "DNA" "Blood" "" "0000119113" "00118650" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 16:00:12" "DHPLC" "DNA" "" "" "0000119114" "00118651" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 16:02:14" "DHPLC" "DNA" "Blood" "" "0000119115" "00118652" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-22 10:55:50" "SEQ" "DNA" "" "" "0000119116" "00118653" "1" "02152" "02033" "2009-02-10 13:12:01" "02033" "2009-03-05 14:50:28" "SEQ" "DNA" "Blood" "" "0000119117" "00118654" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-22 10:57:03" "SEQ" "DNA" "" "" "0000119118" "00118655" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:13:26" "SSCA" "DNA" "Blood" "" "0000119119" "00118656" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:27:57" "SEQ" "DNA" "Blood" "" "0000119120" "00118657" "1" "02210" "02033" "2009-10-13 15:52:46" "" "" "SEQ" "DNA" "Blood" "" "0000119121" "00118658" "1" "02215" "02215" "2010-03-17 16:23:33" "02033" "2010-03-18 08:22:20" "DHPLC" "DNA" "Blood" "" "0000119122" "00118659" "1" "02210" "02033" "2010-05-20 12:42:21" "02033" "2010-05-20 12:47:31" "DHPLC" "DNA" "Blood" "" "0000119123" "00118660" "1" "02210" "02033" "2009-10-13 15:52:46" "" "" "SEQ" "DNA" "" "" "0000119124" "00118661" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-22 10:57:49" "SEQ" "DNA" "" "" "0000119125" "00118662" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 14:56:08" "SEQ" "DNA" "Blood" "" "0000119126" "00118663" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-22 10:58:32" "SEQ" "DNA" "" "" "0000119127" "00118664" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-22 10:59:13" "SEQ" "DNA" "" "" "0000119128" "00118665" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 16:00:01" "DHPLC" "DNA" "" "" "0000119129" "00118666" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 16:03:03" "DHPLC" "DNA" "Blood" "" "0000119130" "00118667" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 15:27:39" "SEQ" "DNA" "" "" "0000119131" "00118668" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 14:56:41" "SEQ" "DNA" "Blood" "" "0000119132" "00118669" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 14:56:57" "SEQ" "DNA" "Blood" "" "0000119133" "00118670" "1" "02212" "02033" "2009-02-10 13:14:43" "02212" "2017-02-22 10:59:55" "SEQ" "DNA" "" "" "0000119134" "00118671" "1" "02210" "02033" "2010-08-04 13:12:44" "02033" "2010-08-04 13:15:03" "SEQ" "DNA" "Blood" "" "0000119135" "00118672" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 16:01:44" "DHPLC" "DNA" "" "" "0000119136" "00118673" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 16:03:18" "DHPLC" "DNA" "Blood" "" "0000119137" "00118674" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 16:13:16" "DHPLC;SSCA" "DNA" "Blood" "" "0000119138" "00118675" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 16:18:44" "SSCA" "DNA" "Blood" "" "0000119139" "00118676" "1" "02216" "02216" "2012-12-06 10:16:43" "02216" "2012-12-06 10:17:52" "DHPLC;SEQ" "DNA" "blood" "" "0000119140" "00118677" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-23 14:57:12" "SEQ" "DNA" "Blood" "" "0000119141" "00118678" "1" "02210" "02033" "2009-02-10 13:08:44" "02033" "2009-02-20 16:30:17" "SEQ" "DNA" "Blood" "" "0000119142" "00118679" "1" "02210" "02033" "2011-02-22 19:44:29" "" "" "SEQ" "DNA" "Blood" "" "0000119143" "00118680" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-20 12:27:39" "SEQ" "DNA" "" "" "0000134059" "00133224" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 16:19:29" "FISH" "DNA" "Blood" "" "0000134060" "00133225" "1" "02210" "02033" "2009-02-10 13:08:43" "02033" "2009-02-23 16:16:24" "FISH" "DNA" "" "" "0000166069" "00165193" "1" "01741" "01741" "2018-06-29 12:13:22" "" "" "SEQ" "DNA" "" "" "0000209683" "00208634" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209684" "00208635" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209685" "00208636" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209686" "00208637" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209687" "00208638" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209688" "00208639" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209689" "00208640" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209690" "00208641" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209691" "00208642" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209692" "00208643" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209693" "00208644" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209694" "00208645" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209695" "00208646" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209696" "00208647" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209697" "00208648" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209698" "00208649" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209699" "00208650" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209700" "00208651" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209701" "00208652" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209702" "00208653" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209703" "00208654" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209704" "00208655" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209705" "00208656" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209706" "00208657" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209707" "00208658" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209708" "00208659" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209709" "00208660" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209710" "00208661" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209711" "00208662" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209712" "00208663" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209713" "00208664" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209714" "00208665" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209715" "00208666" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000209716" "00208667" "1" "02515" "00008" "2018-12-13 00:04:24" "" "" 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"EXT1" "0000118835" "EXT1" "0000118836" "EXT1" "0000118837" "EXT1" "0000118838" "EXT1" "0000118839" "EXT1" "0000118840" "EXT1" "0000118841" "EXT1" "0000118842" "EXT1" "0000118843" "EXT1" "0000118844" "EXT1" "0000118845" "EXT1" "0000118846" "EXT1" "0000118847" "EXT1" "0000118848" "EXT1" "0000118849" "EXT1" "0000118850" "EXT1" "0000118851" "EXT1" "0000118852" "EXT1" "0000118853" "EXT1" "0000118854" "EXT1" "0000118855" "EXT1" "0000118856" "EXT1" "0000118857" "EXT1" "0000118858" "EXT1" "0000118859" "EXT1" "0000118860" "EXT1" "0000118861" "EXT1" "0000118862" "EXT1" "0000118863" "EXT1" "0000118864" "EXT1" "0000118865" "EXT1" "0000118866" "EXT1" "0000118867" "EXT1" "0000118868" "EXT1" "0000118869" "EXT1" "0000118870" "EXT1" "0000118871" "EXT1" "0000118872" "EXT1" "0000118873" "EXT1" "0000118874" "EXT1" "0000118875" "EXT1" "0000118876" "EXT1" "0000118877" "EXT1" "0000118878" "EXT1" "0000118879" "EXT1" "0000118880" "EXT1" "0000118881" "EXT1" "0000118882" "EXT1" "0000118883" "EXT1" "0000118884" "EXT1" "0000118885" "EXT1" "0000118886" "EXT1" "0000118887" "EXT1" "0000118888" "EXT1" "0000118889" "EXT1" "0000118890" "EXT1" "0000118891" "EXT1" "0000118892" "EXT1" "0000118893" "EXT1" "0000118894" "EXT1" "0000118895" "EXT1" "0000118896" "EXT1" "0000118897" "EXT1" "0000118898" "EXT1" "0000118899" "EXT1" "0000118900" "EXT1" "0000118901" "EXT1" "0000118902" "EXT1" "0000118903" "EXT1" "0000118904" "EXT1" "0000118905" "EXT1" "0000118906" "EXT1" "0000118907" "EXT1" "0000118908" "EXT1" "0000118909" "EXT1" "0000118910" "EXT1" "0000118911" "EXT1" "0000118912" "EXT1" "0000118913" "EXT1" "0000118914" "EXT1" "0000118915" "EXT1" "0000118916" "EXT1" "0000118917" "EXT1" "0000118918" "EXT1" "0000118919" "EXT1" "0000118920" "EXT1" "0000118921" "EXT1" "0000118922" "EXT1" "0000118923" "EXT1" "0000118924" "EXT1" "0000118925" "EXT1" "0000118927" "EXT1" "0000118928" "EXT1" "0000118929" "EXT1" "0000118930" "EXT1" "0000118931" "EXT1" "0000118932" "EXT1" "0000118933" "EXT1" "0000118934" "EXT1" "0000118935" "EXT1" "0000118936" "EXT1" "0000118937" "EXT1" "0000118938" "EXT1" "0000118939" "EXT1" "0000118940" "EXT1" "0000118941" "EXT1" "0000118942" "EXT1" "0000118943" "EXT1" "0000118944" "EXT1" "0000118945" "EXT1" "0000118946" "EXT1" "0000118947" "EXT1" "0000118948" "EXT1" "0000118949" "EXT1" "0000118950" "EXT1" "0000118951" "EXT1" "0000118952" "EXT1" "0000118953" "EXT1" "0000118954" "EXT1" "0000118955" "EXT1" "0000118956" "EXT1" "0000118957" "EXT1" "0000118958" "EXT1" "0000118959" "EXT1" "0000118960" "EXT1" "0000118961" "EXT1" "0000118962" "EXT1" "0000118963" "EXT1" "0000118964" "EXT1" "0000118965" "EXT1" "0000118966" "EXT1" "0000118967" "EXT1" "0000118968" "EXT1" "0000118969" "EXT1" "0000118970" "EXT1" "0000118971" "EXT1" "0000118972" "EXT1" "0000118973" "EXT1" "0000118974" "EXT1" "0000118975" "EXT1" "0000118976" "EXT1" "0000118977" "EXT1" "0000118978" "EXT1" "0000118979" "EXT1" "0000118980" "EXT1" "0000118981" "EXT1" "0000118982" "EXT1" "0000118983" "EXT1" "0000118984" "EXT1" "0000118985" "EXT1" "0000118986" "EXT1" "0000118987" "EXT1" "0000118988" "EXT1" "0000118989" "EXT1" "0000118990" "EXT1" "0000118991" "EXT1" "0000118992" "EXT1" "0000118993" "EXT1" "0000118994" "EXT1" "0000118995" "EXT1" "0000118996" "EXT1" "0000118997" "EXT1" "0000118998" "EXT1" "0000118999" "EXT1" "0000119000" "EXT1" "0000119001" "EXT1" "0000119002" "EXT1" "0000119003" "EXT1" "0000119004" "EXT1" "0000119005" "EXT1" "0000119006" "EXT1" "0000119007" "EXT1" "0000119008" "EXT1" "0000119009" "EXT1" "0000119010" "EXT1" "0000119011" "EXT1" "0000119012" "EXT1" "0000119013" "EXT1" "0000119014" "EXT1" "0000119015" "EXT1" "0000119016" "EXT1" "0000119017" "EXT1" "0000119018" "EXT1" "0000119019" "EXT1" "0000119020" "EXT1" "0000119021" "EXT1" "0000119022" "EXT1" "0000119023" "EXT1" "0000119024" "EXT1" "0000119025" "EXT1" "0000119026" "EXT1" "0000119027" "EXT1" "0000119028" "EXT1" "0000119029" "EXT1" "0000119030" "EXT1" "0000119031" "EXT1" "0000119032" "EXT1" "0000119033" "EXT1" "0000119034" "EXT1" "0000119035" "EXT1" "0000119036" "EXT1" "0000119037" "EXT1" "0000119038" "EXT1" "0000119039" "EXT1" "0000119040" "EXT1" "0000119041" "EXT1" "0000119042" "EXT1" "0000119043" "EXT1" "0000119044" "EXT1" "0000119045" "EXT1" "0000119046" "EXT1" "0000119047" "EXT1" "0000119048" "EXT1" "0000119049" "EXT1" "0000119050" "EXT1" "0000119051" "EXT1" "0000119052" "EXT1" "0000119053" "EXT1" "0000119054" "EXT1" "0000119055" "EXT1" "0000119056" "EXT1" "0000119057" "EXT1" "0000119058" "EXT1" "0000119059" "EXT1" "0000119060" "EXT1" "0000119061" "EXT1" "0000119062" "EXT1" "0000119063" "EXT1" "0000119064" "EXT1" "0000119065" "EXT1" "0000119066" "EXT1" "0000119067" "EXT1" "0000119068" "EXT1" "0000119069" "EXT1" "0000119070" "EXT1" "0000119071" "EXT1" "0000119072" "EXT1" "0000119073" "EXT1" "0000119074" "EXT1" "0000119075" "EXT1" "0000119076" "EXT1" "0000119077" "EXT1" "0000119078" "EXT1" "0000119079" "EXT1" "0000119080" "EXT1" "0000119081" "EXT1" "0000119082" "EXT1" "0000119083" "EXT1" "0000119084" "EXT1" "0000119085" "EXT1" "0000119086" "EXT1" "0000119087" "EXT1" "0000119088" "EXT1" "0000119089" "EXT1" "0000119090" "EXT1" "0000119091" "EXT1" "0000119092" "EXT1" "0000119093" "EXT1" "0000119094" "EXT1" "0000119095" "EXT1" "0000119096" "EXT1" "0000119097" "EXT1" "0000119098" "EXT1" "0000119099" "EXT1" "0000119100" "EXT1" "0000119101" "EXT1" "0000119102" "EXT1" "0000119103" "EXT1" "0000119104" "EXT1" "0000119105" "EXT1" "0000119106" "EXT1" "0000119107" "EXT1" "0000119108" "EXT1" "0000119109" "EXT1" "0000119110" "EXT1" "0000119111" "EXT1" "0000119112" "EXT1" "0000119113" "EXT1" "0000119114" "EXT1" "0000119115" "EXT1" "0000119116" "EXT1" "0000119117" "EXT1" "0000119118" "EXT1" "0000119119" "EXT1" "0000119120" "EXT1" "0000119121" "EXT1" "0000119122" "EXT1" "0000119123" "EXT1" "0000119124" "EXT1" "0000119125" "EXT1" "0000119126" "EXT1" "0000119127" "EXT1" "0000119128" "EXT1" "0000119129" "EXT1" "0000119130" "EXT1" "0000119131" "EXT1" "0000119132" "EXT1" "0000119133" "EXT1" "0000119134" "EXT1" "0000119135" "EXT1" "0000119136" "EXT1" "0000119137" "EXT1" "0000119138" "EXT1" "0000119139" "EXT1" "0000119140" "EXT1" "0000119141" "EXT1" "0000119142" "EXT1" "0000119143" "EXT1" "0000134059" "EXT1" "0000134060" "EXT1" "0000166069" "EXT1" "0000209683" "EXT1" "0000209684" "EXT1" "0000209685" "EXT1" "0000209686" "EXT1" "0000209687" "EXT1" "0000209688" "EXT1" "0000209689" "EXT1" "0000209690" "EXT1" "0000209691" "EXT1" "0000209692" "EXT1" "0000209693" "EXT1" "0000209694" "EXT1" "0000209695" "EXT1" "0000209696" "EXT1" "0000209697" "EXT1" "0000209698" "EXT1" "0000209699" "EXT1" "0000209700" "EXT1" "0000209701" "EXT1" "0000209702" "EXT1" "0000209703" "EXT1" "0000209704" "EXT1" "0000209705" "EXT1" "0000209706" "EXT1" "0000209707" "EXT1" "0000209708" "EXT1" "0000209709" "EXT1" "0000209710" "EXT1" "0000209711" "EXT1" "0000209712" "EXT1" "0000209713" "EXT1" "0000209714" "EXT1" "0000209715" "EXT1" "0000209716" "EXT1" "0000209717" "EXT1" "0000209718" "EXT1" "0000209719" "EXT1" "0000209720" "EXT1" "0000209721" "EXT1" "0000209722" "EXT1" "0000209723" "EXT1" "0000209724" "EXT1" "0000209725" "EXT1" "0000209726" "EXT1" "0000209727" "EXT1" "0000209728" "EXT1" "0000209729" "EXT1" "0000209730" "EXT1" "0000209731" "EXT1" "0000209732" "EXT1" "0000209733" "EXT1" "0000209734" "EXT1" "0000209735" "EXT1" "0000209736" "EXT1" "0000209737" "EXT1" "0000209738" "EXT1" "0000209739" "EXT1" "0000209740" "EXT1" "0000209741" "EXT1" "0000209742" "EXT1" "0000209743" "EXT1" "0000209744" "EXT1" "0000209745" "EXT1" "0000209746" "EXT1" "0000209747" "EXT1" "0000209748" "EXT1" "0000209749" "EXT1" "0000209750" "EXT1" "0000209751" "EXT1" "0000209752" "EXT1" "0000209753" "EXT1" "0000209754" "EXT1" "0000209755" "EXT1" "0000209756" "EXT1" "0000209757" "EXT1" "0000209758" "EXT1" "0000231021" "EXT1" "0000308395" "EXT1" "0000308407" "EXT1" "0000308407" "EXT2" "0000308408" "EXT1" "0000332649" "EXT1" "0000333596" "EXT1" "0000333596" "EXT2" "0000333598" "EXT1" "0000333598" "EXT2" "0000333599" "EXT1" "0000333599" "EXT2" "0000415663" "EXT1" "0000435894" "EXT1" "0000435894" "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 = 870 "{{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}}" "0000130513" "0" "50" "8" "118842473" "118842473" "subst" "0" "01741" "EXT1_000721" "g.118842473A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.117830234A>C" "" "VUS" "" "0000167144" "0" "70" "8" "118849345" "118849345" "subst" "0" "01741" "EXT1_000722" "g.118849345A>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.117837106A>G" "" "likely pathogenic" "" "0000170458" "0" "90" "8" "119122585" "119122585" "del" "0" "01741" "EXT1_000723" "g.119122585del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.118110346del" "" "pathogenic" "" "0000194531" "0" "77" "8" "118811602" "119124058" "del" "0" "02210" "EXT1_000020" "g.(?_118811602)_(119124058_?)del" "" "Jennes, not yet published" "" "Del EXT1" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000194532" "0" "77" "8" "118811602" "119124058" "del" "0" "02210" "EXT1_000021" "g.(?_118811602)_(119124058_?)del" "" "{PMID12239711:Hall, 2002}" "" "Del EXT1" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000194533" "0" "77" "8" "118811602" "119124058" "del" "0" "02210" "EXT1_000022" "g.(?_118811602)_(119124058_?)del" "" "Jennes, not yet published" "" "Del EXT1" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000194534" "0" "77" "8" "118811602" "119124058" "del" "0" "02210" "EXT1_000023" "g.(?_118811602)_(119124058_?)del" "" "Jennes, not yet published" "" "Del EXT1" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000194535" "0" "77" "8" "119122323" "119124058" "del" "0" "02210" "EXT1_000009" "g.(118849441_119122323)_(119124058_?)del" "" "Jennes, not yet published" "" "ex1del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000194536" "0" "77" "8" "119122323" "119124058" "del" "0" "02210" "EXT1_000010" "g.(118849441_119122323)_(119124058_?)del" "" "Jennes, not yet published" "" "ex1del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000194537" "0" "77" "8" "118847682" "118849441" "del" "0" "02210" "EXT1_000012" "g.(118842589_118847682)_(118849441_119122323)del" "" "Jennes, not yet published" "" "ex2_3del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000194538" "0" "77" "8" "118847682" "118849441" "del" "0" "02210" "EXT1_000013" "g.(118842589_118847682)_(118849441_119122323)del" "" "{PMID21703028:Jennes, 2011}" "" "ex2_3del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000194539" "0" "77" "8" "118811602" "118849441" "del" "0" "02210" "EXT1_000016" "g.(?_118811602)_(118849441_119122323)del" "" "{PMID18165274:Jennes, 2008}" "" "ex2_ex11del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000194540" "0" "77" "8" "118811602" "118849441" "del" "0" "02210" "EXT1_000017" "g.(?_118811602)_(118849441_119122323)del" "" "{PMID18165274:Jennes, 2008}" "" "ex2_ex11del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000194541" "0" "77" "8" "118830673" "118832034" "del" "0" "02210" "EXT1_000014" "g.(118825201_118830673)_(118832034_118834703)del" "" "{PMID21703028:Jennes, 2011}" "" "ex6_ex7del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000194542" "0" "77" "8" "118825110" "118825201" "del" "0" "02210" "EXT1_000018" "g.(118819617_118825110)_(118825201_118830673)del" "" "{PMID18165274:Jennes, 2008}" "" "ex8del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000194546" "0" "11" "8" "119124061" "119124061" "subst" "0" "02210" "EXT1_000011" "g.119124061A>G" "77" "{PMID17041877:Lonie, 2006}" "" "" "" "Unknown" "" "" "0" "" "" "g.118111822A>G" "" "benign" "" "0000194547" "0" "11" "8" "119124569" "119124569" "subst" "0" "02210" "EXT1_000575" "g.119124569C>G" "" "" "" "" "SNP rs6469721 C/G; Upstream substitution. The promoter region might be affected. The consequence of this change is not predictable." "Unknown" "" "rs6469721" "0" "" "" "g.118112330C>G" "" "benign" "" "0000194548" "0" "11" "8" "119124443" "119124443" "subst" "0" "02210" "EXT1_000576" "g.119124443C>G" "" "" "" "" "SNP rs34016643 C/G; Upstream substitution. The promoter region might be affected. The consequence of this change is not predictable." "Unknown" "" "rs34016643" "0" "" "" "g.118112204C>G" "" "benign" "" "0000194549" "0" "11" "8" "119124350" "119124350" "subst" "0" "02210" "EXT1_000577" "g.119124350C>T" "" "" "" "" "SNP rs7001641 C/T; Upstream substitution. The promoter region might be affected. The consequence of this change is not predictable." "Unknown" "" "rs700164" "0" "" "" "g.118112111C>T" "" "benign" "" "0000194550" "0" "77" "8" "119122323" "119124058" "del" "0" "02210" "EXT1_000006" "g.(118849441_119122323)_(119124058_?)del" "" "{PMID15221792:White, 2004}" "" "c.-772-?_962+?del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000194551" "0" "77" "8" "119122323" "119124058" "del" "0" "02210" "EXT1_000007" "g.(118849441_119122323)_(119124058_?)del" "" "{PMID15221792:White, 2004}" "" "c.-772-?_962+?del" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000194552" "0" "77" "8" "119122323" "119124058" "del" "0" "02210" "EXT1_000008" "g.(118849441_119122323)_(119124058_?)del" "" "{PMID15221792:White, 2004}" "" "c.-772-?_962+?del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000194553" "0" "77" "8" "118847682" "119124058" "del" "0" "02152" "EXT1_000402" "g.(118842589_118847682)_(119124058_?)del" "" "Bakker, not yet published" "" "c.-772-?_1164+?del (del ex 1-3)" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000194554" "0" "77" "8" "119122323" "119124058" "del" "0" "02210" "EXT1_000004" "g.(118849441_119122323)_(119124058_?)del" "" "{PMID17301954:Signori, 2007}" "" "c.-722-?-962+?del (del ex 1)" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000194555" "0" "77" "8" "119122323" "119124058" "del" "0" "02210" "EXT1_000005" "g.(118849441_119122323)_(119124058_?)del" "" "{PMID17301954:Signori, 2007}" "" "c.-722-?-962+?del (del ex 1)" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000194556" "0" "99" "8" "118811602" "119124058" "del" "0" "02210" "EXT1_000019" "g.(?_118811602)_(119124058_?)del" "" "Jennes, not yet published" "" "Del EXT1" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000194557" "0" "77" "8" "118811602" "119124058" "del" "0" "02210" "EXT1_000591" "g.(?_118811602)_(119124058_?)del" "" "Jennes, not yet published" "" "Del EXT1" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000194558" "0" "77" "8" "118811602" "118812137" "del" "0" "02210" "EXT1_000628" "g.(?_118811602)_(118812137_118816960)del" "" "{PMID21703028:Jennes, 2011}" "" "ex11del" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000194559" "0" "77" "8" "118811602" "118849441" "del" "0" "02210" "EXT1_000644" "g.(?_118811602)_(118849441_119122323)del" "" "{PMID21703028:Jennes, 2011}" "" "ex2_ex11del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000194560" "0" "77" "8" "119123285" "119123285" "subst" "0" "02212" "EXT1_000432" "g.119123285T>C" "" "Pedrini, not yet published" "" "" "Substitution affecting the translation initiation codon (Met1). The consequence of this change is not predictable." "Germline" "" "" "0" "" "" "g.118111046T>C" "" "likely pathogenic" "" "0000194561" "0" "77" "8" "119123285" "119123285" "subst" "0" "02210" "EXT1_000683" "g.119123285T>A" "" "Jennes, not yet published" "" "" "Substitution affecting the translation initiation codon (Met1). The consequence of this change is not predictable." "Unknown" "" "" "0" "" "" "g.118111046T>A" "" "likely pathogenic" "" "0000194562" "0" "77" "8" "119123284" "119123284" "subst" "0" "02210" "EXT1_000027" "g.119123284A>T" "" "{PMID17301954:Signori, 2007}" "" "" "Substitution affecting the translation initiation codon (Met1). The consequence of this change is not predictable." "Unknown" "" "" "0" "" "" "g.118111045A>T" "" "likely pathogenic" "" "0000194563" "0" "77" "8" "119123284" "119123284" "subst" "0" "02212" "EXT1_000433" "g.119123284A>T" "" "Pedrini, not yet published" "" "" "Substitution affecting the translation initiation codon (Met1). The consequence of this change is not predictable." "Unknown" "" "" "0" "" "" "g.118111045A>T" "" "likely pathogenic" "" "0000194564" "0" "99" "8" "119123282" "119123282" "subst" "0" "02210" "EXT1_000028" "g.119123282G>A" "" "{PMID16088908:Pedrini, 2005}" "" "" "" "Germline" "" "" "0" "" "" "g.118111043G>A" "" "pathogenic" "" "0000194565" "0" "77" "8" "119123276" "119123276" "dup" "0" "02210" "EXT1_000029" "g.119123276dup" "" "Jennes, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.118111037dup" "" "likely pathogenic" "" "0000194566" "0" "77" "8" "119123276" "119123276" "dup" "0" "02213" "EXT1_000547" "g.119123276dup" "" "Casey, not yet published" "" "15dupA" "" "Unknown" "" "" "0" "" "" "g.118111037dup" "" "likely pathogenic" "" "0000194567" "0" "77" "8" "119123259" "119123259" "del" "0" "02210" "EXT1_000601" "g.119123259del" "" "Jennes, not yet published" "" "c.28delC" "" "Germline" "" "" "0" "" "" "g.118111020del" "" "likely pathogenic" "" "0000194568" "0" "77" "8" "119123249" "119123249" "del" "0" "02210" "EXT1_000030" "g.119123249del" "" "{PMID:Dobson-Stone 2000:10713884}" "" "37delG" "" "Unknown" "" "" "0" "" "" "g.118111010del" "" "likely pathogenic" "" "0000194569" "0" "77" "8" "119123246" "119123246" "del" "0" "02210" "EXT1_000031" "g.119123246del" "" "{PMID11432960:Francannet, 2001}" "" "42delG, protein change G15" "" "Germline" "" "" "0" "" "" "g.118111007del" "" "likely pathogenic" "" "0000194570" "0" "77" "8" "119123240" "119123241" "del" "0" "02212" "EXT1_000434" "g.119123240_119123241del" "" "Pedrini, not yet published" "" "c.45_46delTT" "" "Unknown" "" "" "0" "" "" "g.118111001_118111002del" "" "likely pathogenic" "" "0000194571" "0" "77" "8" "119123240" "119123241" "del" "0" "02210" "EXT1_000607" "g.119123240_119123241del" "" "{PMID19344451:Heinritz, 2009}" "" "c.45_46delTT" "" "Germline" "" "" "0" "" "" "g.118111001_118111002del" "" "likely pathogenic" "" "0000194572" "0" "77" "8" "119123236" "119123236" "dup" "0" "02210" "EXT1_000032" "g.119123236dup" "" "Jennes, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.118110997dup" "" "likely pathogenic" "" "0000194573" "0" "77" "8" "119123225" "119123225" "del" "0" "02210" "EXT1_000648" "g.119123225del" "" "Jennes, not yet published" "" "c.64delT" "" "Unknown" "" "" "0" "" "" "g.118110986del" "" "likely pathogenic" "" "0000194574" "0" "77" "8" "119123220" "119123220" "del" "0" "02212" "EXT1_000435" "g.119123220del" "" "Pedrini, not yet published" "" "c.66delT" "" "Unknown" "" "" "0" "" "" "g.118110981del" "" "likely pathogenic" "" "0000194575" "0" "77" "8" "119123202" "119123206" "del" "0" "02210" "EXT1_000033" "g.119123202_119123206del" "" "Jennes, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.118110963_118110967del" "" "likely pathogenic" "" "0000194576" "0" "77" "8" "119123200" "119123200" "del" "0" "02210" "EXT1_000034" "g.119123200del" "" "{PMID:Dobson-Stone 2000:10713884}" "" "86-88delG" "" "Unknown" "" "" "0" "" "" "g.118110961del" "" "likely pathogenic" "" "0000194577" "0" "77" "8" "119123200" "119123200" "del" "0" "02210" "EXT1_000035" "g.119123200del" "" "{PMID:Dobson-Stone 2000:10713884}" "" "86-88delG" "" "Unknown" "" "" "0" "" "" "g.118110961del" "" "likely pathogenic" "" "0000194578" "0" "77" "8" "119123194" "119123194" "del" "0" "02210" "EXT1_000036" "g.119123194del" "" "{PMID16088908:Pedrini, 2005}" "" "92delC" "" "De novo" "" "" "0" "" "" "g.118110955del" "" "likely pathogenic" "" "0000194579" "0" "77" "8" "119123171" "119123172" "ins" "0" "02210" "EXT1_000037" "g.119123171_119123172insAA" "" "{PMID17041877:Lonie, 2006}" "" "" "" "Unknown" "" "" "0" "" "" "g.118110932_118110933insAA" "" "likely pathogenic" "" "0000194580" "0" "77" "8" "119123171" "119123171" "del" "0" "02210" "EXT1_000038" "g.119123171del" "" "{PMID18373409: Leube, 2008}" "" "115delG" "" "Germline" "" "" "0" "" "" "g.118110932del" "" "likely pathogenic" "" "0000194581" "0" "77" "8" "119123171" "119123171" "subst" "0" "02213" "EXT1_000548" "g.119123171C>A" "" "Casey, not yet published" "" "" "" "Unknown" "" "" "0" "" "" "g.118110932C>A" "" "likely pathogenic" "" "0000194582" "0" "77" "8" "119123171" "119123171" "subst" "0" "02210" "EXT1_000581" "g.119123171C>A" "" "{PMID17589361:Alvarez, 2007}" "" "" "" "Unknown" "" "" "0" "" "" "g.118110932C>A" "" "likely pathogenic" "" "0000194583" "0" "11" "8" "119123169" "119123169" "subst" "0.0015247" "02210" "EXT1_000039" "g.119123169T>C" "14" "{PMID10441575:Bovée, 1999}" "" "" "Synonymous substitution. Codon GAA (freq: 0.417) changed to GAG (freq: 0.583).This variation does not alter the protein sequence." "Unknown" "" "" "0" "" "" "g.118110930T>C" "" "benign" "" "0000194584" "0" "77" "8" "119123168" "119123168" "del" "0" "02210" "EXT1_000040" "g.119123168del" "" "{PMID9521425:Raskind, 1998}" "" "769delC" "This frameshift is located in a polypyrimidine tract." "De novo" "" "" "0" "" "" "g.118110929del" "" "likely pathogenic" "" "0000194585" "0" "77" "8" "119123168" "119123169" "del" "0" "02212" "EXT1_000436" "g.119123168_119123169del" "" "Pedrini, not yet published" "" "c.120_121delCA" "" "Germline" "" "" "0" "" "" "g.118110929_118110930del" "" "likely pathogenic" "" "0000194586" "0" "11" "8" "119123164" "119123164" "subst" "0.000113835" "02210" "EXT1_000041" "g.119123164C>T" "" "{PMID18373409: Leube, 2008}" "" "" "The mutations did not segregate with MO in the family. Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Moderately conserved amino acid, Small physicochemical difference between Ser & Asn (Grantham dist.: 46 [0-215])." "Germline" "" "" "0" "" "" "g.118110925C>T" "" "benign" "" "0000194587" "0" "77" "8" "119123148" "119123149" "ins" "0" "02215" "EXT1_000633" "g.119123148_119123149insGGGGGTGC" "" "Pedrini, not yet published" "" "c.137_138insGCACCCCC" "" "Germline" "" "" "0" "" "" "g.118110909_118110910insGGGGGTGC" "" "likely pathogenic" "" "0000194588" "0" "77" "8" "119123145" "119123145" "del" "0" "02210" "EXT1_000618" "g.119123145del" "" "{PMID19309273:Vanita, 2009}" "" "c.142delC" "" "Germline" "" "" "0" "" "" "g.118110906del" "" "likely pathogenic" "" "0000194589" "0" "77" "8" "119123112" "119123112" "del" "0" "02210" "EXT1_000042" "g.119123112del" "" "{PMID9326317:Philippe, 1997}" "" "174-, 175- or 176delC" "" "De novo" "" "" "0" "" "" "g.118110873del" "" "likely pathogenic" "" "0000194590" "0" "77" "8" "119123106" "119123106" "del" "0" "02210" "EXT1_000629" "g.119123106del" "" "Jennes, not yet published" "" "c.180delC" "" "Unknown" "" "" "0" "" "" "g.118110867del" "" "likely pathogenic" "" "0000194591" "0" "77" "8" "119123104" "119123104" "del" "0" "02210" "EXT1_000043" "g.119123104del" "" "{PMID16088908:Pedrini, 2005}" "" "182delC" "" "Unknown" "" "" "0" "" "" "g.118110865del" "" "likely pathogenic" "" "0000194592" "0" "77" "8" "119123104" "119123104" "del" "0" "02215" "EXT1_000701" "g.119123104del" "" "Pedrini, not yet published" "" "182delC" "" "Germline" "" "" "0" "" "" "g.118110865del" "" "likely pathogenic" "" "0000194593" "0" "77" "8" "119123097" "119123098" "ins" "0" "02212" "EXT1_000437" "g.119123097_119123098insA" "" "Pedrini, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.118110858_118110859insA" "" "likely pathogenic" "" "0000194594" "0" "77" "8" "119123090" "119123090" "del" "0" "02213" "EXT1_000549" "g.119123090del" "" "Casey, not yet published" "" "195delG" "" "Unknown" "" "" "0" "" "" "g.118110851del" "" "likely pathogenic" "" "0000194595" "0" "77" "8" "119123082" "119123082" "subst" "0" "02210" "EXT1_000044" "g.119123082C>T" "" "{PMID9463333:Wuyts, 1998}" "" "" "" "Germline" "" "" "0" "" "" "g.118110843C>T" "" "likely pathogenic" "" "0000194596" "0" "77" "8" "119123082" "119123082" "subst" "0" "02212" "EXT1_000438" "g.119123082C>T" "" "Pedrini, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.118110843C>T" "" "likely pathogenic" "" "0000194597" "0" "77" "8" "119123072" "119123072" "subst" "0" "02210" "EXT1_000045" "g.119123072C>A" "" "Jennes, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.118110833C>A" "" "likely pathogenic" "" "0000194598" "0" "77" "8" "119123072" "119123072" "subst" "0.0000772414" "02210" "EXT1_000585" "g.119123072C>T" "" "{PMID17589361:Alvarez, 2007}" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Weakly conserved amino acid, Small physicochemical difference between Glu & Lys (Grantham dist.: 56 [0-215])." "Unknown" "" "" "0" "" "" "g.118110833C>T" "" "likely pathogenic" "" "0000194599" "0" "77" "8" "119123071" "119123071" "del" "0" "02212" "EXT1_000439" "g.119123071del" "" "Pedrini, not yet published" "" "c.218delA" "" "Germline" "" "" "0" "" "" "g.118110832del" "" "likely pathogenic" "" "0000194600" "0" "77" "8" "119123071" "119123071" "del" "0" "02210" "EXT1_000621" "g.119123071del" "" "{PMID18216313:Roberts, 2008}" "" "c.218delA" "" "Unknown" "" "" "0" "" "" "g.118110832del" "" "likely pathogenic" "" "0000194601" "0" "77" "8" "119123048" "119123048" "del" "0" "02210" "EXT1_000046" "g.119123048del" "" "{PMID:Dobson-Stone 2000:10713884}" "" "c.238delA" "" "Unknown" "" "" "0" "" "" "g.118110809del" "" "likely pathogenic" "" "0000194602" "0" "77" "8" "119123048" "119123048" "del" "0" "02210" "EXT1_000047" "g.119123048del" "" "{PMID:Dobson-Stone 2000:10713884}" "" "c.238delA" "" "Unknown" "" "" "0" "" "" "g.118110809del" "" "likely pathogenic" "" "0000194603" "0" "77" "8" "119123047" "119123047" "del" "0" "02210" "EXT1_000048" "g.119123047del" "" "Jennes, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.118110808del" "" "likely pathogenic" "" "0000194604" "0" "77" "8" "119123044" "119123044" "del" "0" "02210" "EXT1_000049" "g.119123044del" "" "{PMID:Dobson-Stone 2000:10713884}" "" "242-247delC" "" "Unknown" "" "" "0" "" "" "g.118110805del" "" "likely pathogenic" "" "0000194605" "0" "77" "8" "119123044" "119123044" "del" "0" "02210" "EXT1_000050" "g.119123044del" "" "{PMID:Dobson-Stone 2000:10713884}" "" "242-247delC" "" "Unknown" "" "" "0" "" "" "g.118110805del" "" "likely pathogenic" "" "0000194606" "0" "77" "8" "119123044" "119123044" "del" "0" "02215" "EXT1_000702" "g.119123044del" "" "Pedrini, not yet published" "" "242-247delC" "" "Germline" "" "" "0" "" "" "g.118110805del" "" "likely pathogenic" "" "0000194607" "0" "77" "8" "119123044" "119123044" "dup" "0" "02210" "EXT1_000051" "g.119123044dup" "" "{PMID9150727:Wells, 1997}" "" "885-890insC" "" "Germline" "" "" "0" "" "" "g.118110805dup" "" "likely pathogenic" "" "0000194608" "0" "77" "8" "119123044" "119123044" "dup" "0" "02210" "EXT1_000052" "g.119123044dup" "" "{PMID18165274:Jennes, 2008}" "" "247dupC" "" "Germline" "" "" "0" "" "" "g.118110805dup" "" "likely pathogenic" "" "0000194609" "0" "77" "8" "119123044" "119123044" "dup" "0" "02212" "EXT1_000440" "g.119123044dup" "" "Pedrini, not yet published" "" "c.247_248insC" "" "Germline" "" "" "0" "" "" "g.118110805dup" "" "likely pathogenic" "" "0000194610" "0" "77" "8" "119123037" "119123038" "ins" "0" "02210" "EXT1_000053" "g.119123037_119123038insG" "" "{PMID11432960:Francannet, 2001}" "" "" "" "Germline" "" "" "0" "" "" "g.118110798_118110799insG" "" "likely pathogenic" "" "0000194611" "0" "77" "8" "119123038" "119123038" "del" "0" "02210" "EXT1_000054" "g.119123038del" "" "{PMID9150727:Wells, 1997}" "" "891-892delG" "" "Germline" "" "" "0" "" "" "g.118110799del" "" "likely pathogenic" "" "0000194612" "0" "77" "8" "119123036" "119123036" "subst" "0" "02210" "EXT1_000055" "g.119123036G>A" "" "{PMID10934647:Legeai-Mallet, 2000}" "" "" "" "Germline" "" "" "0" "" "" "g.118110797G>A" "" "likely pathogenic" "" "0000194613" "0" "77" "8" "119123036" "119123036" "subst" "0" "02210" "EXT1_000056" "g.119123036G>A" "" "{PMID11432960:Francannet, 2001}" "" "" "" "Germline" "" "" "0" "" "" "g.118110797G>A" "" "likely pathogenic" "" "0000194614" "0" "77" "8" "119123036" "119123036" "subst" "0" "02210" "EXT1_000057" "g.119123036G>A" "" "Jennes, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.118110797G>A" "" "likely pathogenic" "" "0000194615" "0" "77" "8" "119123006" "119123006" "del" "0" "02210" "EXT1_000058" "g.119123006del" "" "Jennes, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.118110767del" "" "likely pathogenic" "" "0000194616" "0" "77" "8" "119122955" "119122955" "subst" "0" "02210" "EXT1_000059" "g.119122955T>A" "" "{PMID10480354:Xu, 1999}" "" "" "" "Unknown" "" "" "0" "" "" "g.118110716T>A" "" "likely pathogenic" "" "0000194617" "0" "77" "8" "119122935" "119122935" "del" "0" "02212" "EXT1_000441" "g.119122935del" "" "Pedrini, not yet published" "" "c.351delC" "" "Unknown" "" "" "0" "" "" "g.118110696del" "" "likely pathogenic" "" "0000194618" "0" "77" "8" "119122933" "119122934" "ins" "0" "02210" "EXT1_000060" "g.119122933_119122934insG" "" "{PMID11432960:Francannet, 2001}" "" "" "" "Germline" "" "" "0" "" "" "g.118110694_118110695insG" "" "likely pathogenic" "" "0000194619" "0" "77" "8" "119122929" "119122929" "subst" "0" "02210" "EXT1_000061" "g.119122929G>T" "" "{PMID9521425:Raskind, 1998}" "" "(Protein: 108C>A)" "This frameshift is located in a polypyrimidine tract." "Germline" "" "" "0" "" "" "g.118110690G>T" "" "likely pathogenic" "" "0000194620" "0" "77" "8" "119122929" "119122929" "subst" "0" "02212" "EXT1_000442" "g.119122929G>T" "" "Pedrini, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.118110690G>T" "" "likely pathogenic" "" "0000194621" "0" "77" "8" "119122929" "119122929" "subst" "0" "02212" "EXT1_000443" "g.119122929G>T" "" "Pedrini, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.118110690G>T" "" "likely pathogenic" "" "0000194622" "0" "77" "8" "119122929" "119122929" "subst" "0" "02210" "EXT1_000580" "g.119122929G>C" "" "{PMID16879194:Alvarez, 2006}" "" "" "" "Germline" "" "" "0" "" "" "g.118110690G>C" "" "likely pathogenic" "" "0000194623" "0" "77" "8" "119122922" "119122922" "subst" "0" "02210" "EXT1_000062" "g.119122922G>A" "" "{PMID17041877:Lonie, 2006}" "" "" "" "Unknown" "" "" "0" "" "" "g.118110683G>A" "" "likely pathogenic" "" "0000194624" "0" "77" "8" "119122922" "119122922" "subst" "0" "02212" "EXT1_000444" "g.119122922G>A" "" "Pedrini, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.118110683G>A" "" "likely pathogenic" "" "0000194625" "0" "77" "8" "119122922" "119122922" "subst" "0" "02215" "EXT1_000622" "g.119122922G>A" "" "Pedrini, not yet published" "" "" "" "Unknown" "" "" "0" "" "" "g.118110683G>A" "" "likely pathogenic" "" "0000194626" "0" "77" "8" "119122917" "119122918" "delins" "0" "02210" "EXT1_000692" "g.119122917_119122918delinsG" "" "{PMID:Pei 2010:21039224}" "" "c.368_369delAAinsC" "" "Unknown" "" "" "0" "" "" "g.118110678_118110679delinsG" "" "likely pathogenic" "" "0000194627" "0" "77" "8" "119122916" "119122917" "del" "0" "02212" "EXT1_000445" "g.119122916_119122917del" "" "Pedrini, not yet published" "" "c.369_370delAG" "" "Germline" "" "" "0" "" "" "g.118110677_118110678del" "" "likely pathogenic" "" "0000194628" "0" "77" "8" "119122916" "119122917" "del" "0" "02212" "EXT1_000446" "g.119122916_119122917del" "" "Pedrini, not yet published" "" "c.369_370delAG" "" "Unknown" "" "" "0" "" "" "g.118110677_118110678del" "" "likely pathogenic" "" "0000194629" "0" "77" "8" "119122916" "119122917" "del" "0" "02214" "EXT1_000627" "g.119122916_119122917del" "" "Asteggiano, not yet published" "" "c.369_370delAG" "" "Germline" "" "" "0" "" "" "g.118110677_118110678del" "" "likely pathogenic" "" "0000194630" "0" "77" "8" "119122916" "119122917" "del" "0" "02215" "EXT1_000635" "g.119122916_119122917del" "" "Pedrini, not yet published" "" "c.369_370delAG" "" "Germline" "" "" "0" "" "" "g.118110677_118110678del" "" "likely pathogenic" "" "0000194631" "0" "77" "8" "119122916" "119122916" "dup" "0" "02210" "EXT1_000063" "g.119122916dup" "" "{PMID17041877:Lonie, 2006}" "" "373dupG" "" "Unknown" "" "" "0" "" "" "g.118110677dup" "" "likely pathogenic" "" "0000194632" "0" "77" "8" "119122905" "119122905" "del" "0" "02210" "EXT1_000064" "g.119122905del" "" "Jennes, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.118110666del" "" "likely pathogenic" "" "0000194633" "0" "77" "8" "119122897" "119122898" "del" "0" "02210" "EXT1_000065" "g.119122897_119122898del" "" "{PMID10679937:Wuyts, 2000}" "" "c.388delAG" "" "Unknown" "" "" "0" "" "" "g.118110658_118110659del" "" "likely pathogenic" "" "0000194634" "0" "77" "8" "119122891" "119122891" "del" "0" "02210" "EXT1_000608" "g.119122891del" "" "{PMID19344451:Heinritz, 2009}" "" "c.398delA" "" "Germline" "" "" "0" "" "" "g.118110652del" "" "likely pathogenic" "" "0000194635" "0" "77" "8" "119122865" "119122867" "ins" "0" "02210" "EXT1_000066" "g.119122865_119122867del" "" "{PMID8981950:Hecht, 1997}" "" "1071ins4" "This frameshift creates a premature stop codon at nucleotide 1213." "Germline" "" "" "0" "" "" "g.118110626_118110628del" "" "likely pathogenic" "" "0000194636" "0" "77" "8" "119122865" "119122867" "" "0" "02210" "EXT1_000067" "g.(119122865_119122867)insN[4]" "" "{PMID:Dobson-Stone 2000:10713884}" "" "420ins4" "" "Unknown" "" "" "0" "" "" "g.(118110626_118110628)insN[4]" "" "likely pathogenic" "" "0000194637" "0" "77" "8" "119122865" "119122867" "" "0" "02210" "EXT1_000068" "g.(119122865_119122867)insN[4]" "" "{PMID:Dobson-Stone 2000:10713884}" "" "420ins4" "" "Unknown" "" "" "0" "" "" "g.(118110626_118110628)insN[4]" "" "likely pathogenic" "" "0000194638" "0" "77" "8" "119122857" "119122857" "del" "0" "02210" "EXT1_000597" "g.119122857del" "" "Jennes, not yet published" "" "c.429 delC" "" "Unknown" "" "" "0" "" "" "g.118110618del" "" "likely pathogenic" "" "0000194639" "0" "77" "8" "119122850" "119122854" "del" "0" "02212" "EXT1_000447" "g.119122850_119122854del" "" "Pedrini, not yet published" "" "c.433_437delACCTC" "" "Unknown" "" "" "0" "" "" "g.118110611_118110615del" "" "likely pathogenic" "" "0000194640" "0" "77" "8" "119122830" "119122830" "del" "0" "02210" "EXT1_000069" "g.119122830del" "" "{PMID10679937:Wuyts, 2000}" "" "c.456delC" "" "Unknown" "" "" "0" "" "" "g.118110591del" "" "likely pathogenic" "" "0000194641" "0" "77" "8" "119122828" "119122829" "del" "0" "02210" "EXT1_000070" "g.119122828_119122829del" "" "{PMID11432960:Francannet, 2001}" "" "458delTC" "" "Germline" "" "" "0" "" "" "g.118110589_118110590del" "" "likely pathogenic" "" "0000194642" "0" "77" "8" "119122828" "119122829" "del" "0" "02210" "EXT1_000689" "g.119122828_119122829del" "" "{PMID:Pei 2010:21039224}" "" "c.459_460delCT" "" "Germline" "" "" "0" "" "" "g.118110589_118110590del" "" "likely pathogenic" "" "0000194643" "0" "77" "8" "119122825" "119122826" "del" "0" "02210" "EXT1_000071" "g.119122825_119122826del" "" "{PMID:Dobson-Stone 2000:10713884}" "" "460-461delTT" "" "Unknown" "" "" "0" "" "" "g.118110586_118110587del" "" "likely pathogenic" "" "0000194644" "0" "77" "8" "119122825" "119122826" "del" "0" "02210" "EXT1_000072" "g.119122825_119122826del" "" "{PMID11432960:Francannet, 2001}" "" "460del2T" "" "Germline" "" "" "0" "" "" "g.118110586_118110587del" "" "likely pathogenic" "" "0000194645" "0" "77" "8" "119122825" "119122826" "del" "0" "02212" "EXT1_000448" "g.119122825_119122826del" "" "Pedrini, not yet published" "" "c.461_462delTT" "" "Unknown" "" "" "0" "" "" "g.118110586_118110587del" "" "likely pathogenic" "" "0000194646" "0" "77" "8" "119122809" "119122810" "del" "0" "02210" "EXT1_000073" "g.119122809_119122810del" "" "{PMID11432960:Francannet, 2001}" "" "477delTA" "" "Germline" "" "" "0" "" "" "g.118110570_118110571del" "" "likely pathogenic" "" "0000194647" "0" "77" "8" "119122804" "119122804" "subst" "0" "02210" "EXT1_000074" "g.119122804A>C" "" "{PMID:Dobson-Stone 2000:10713884}" "" "" "" "Unknown" "" "" "0" "" "" "g.118110565A>C" "" "likely pathogenic" "" "0000194648" "0" "79" "8" "119122796" "119122796" "subst" "0" "02210" "EXT1_000076" "g.119122796C>G" "" "{PMID10441575:Bovée, 1999}" "" "" "This variant is reported as pathogenic by Uniprot." "Germline" "" "" "0" "" "" "g.118110557C>G" "" "likely pathogenic" "" "0000194649" "0" "77" "8" "119122798" "119122799" "del" "0" "02210" "EXT1_000075" "g.119122798_119122799del" "" "{PMID17041877:Lonie, 2006}" "" "490_491delGA" "" "Unknown" "" "" "0" "" "" "g.118110559_118110560del" "" "likely pathogenic" "" "0000194650" "0" "77" "8" "119122793" "119122793" "subst" "0" "02210" "EXT1_000077" "g.119122793G>A" "" "{PMID16088908:Pedrini, 2005}" "" "" "" "Unknown" "" "" "0" "" "" "g.118110554G>A" "" "likely pathogenic" "" "0000194651" "0" "77" "8" "119122786" "119122786" "subst" "0" "02210" "EXT1_000078" "g.119122786G>T" "" "Jennes, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.118110547G>T" "" "likely pathogenic" "" "0000194652" "0" "77" "8" "119122775" "119122776" "del" "0" "02210" "EXT1_000079" "g.119122775_119122776del" "" "{PMID16088908:Pedrini, 2005}" "" "512delTG" "" "Unknown" "" "" "0" "" "" "g.118110536_118110537del" "" "likely pathogenic" "" "0000194653" "0" "77" "8" "119122771" "119122771" "del" "0" "02210" "EXT1_000080" "g.119122771del" "" "{PMID11432960:Francannet, 2001}" "" "515delA" "" "Germline" "" "" "0" "" "" "g.118110532del" "" "likely pathogenic" "" "0000194654" "0" "77" "8" "119122769" "119122770" "ins" "0" "02210" "EXT1_000081" "g.119122769_119122770insTTTT" "" "Jennes, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.118110530_118110531insTTTT" "" "likely pathogenic" "" "0000194655" "0" "77" "8" "119122752" "119122759" "del" "0" "02210" "EXT1_000083" "g.119122752_119122759del" "" "{PMID8981950:Hecht, 1997}" "" "1178del8" "This frameshift creates a premature stop codon at nucleotide 1213." "De novo" "" "" "0" "" "" "g.118110513_118110520del" "" "likely pathogenic" "" "0000194656" "0" "77" "8" "119122757" "119122757" "del" "0" "02210" "EXT1_000082" "g.119122757del" "" "{PMID18330718:Sfar, 2009}" "" "529-531del1" "" "Germline" "" "" "0" "" "" "g.118110518del" "" "likely pathogenic" "" "0000194657" "11" "95" "8" "119122757" "119122757" "del" "0" "02217" "EXT1_000714" "g.119122757del" "" "http://www.ncbi.nlm.nih.gov/pubmed/?term=SFAR+S+ext1+mutation" "" "c.529_531delA" "" "Germline" "" "" "0" "" "" "g.118110518del" "" "pathogenic" "" "0000194658" "0" "77" "8" "119122751" "119122751" "subst" "0" "02210" "EXT1_000084" "g.119122751G>A" "" "{PMID17041877:Lonie, 2006}" "" "" "" "Unknown" "" "" "0" "" "" "g.118110512G>A" "" "likely pathogenic" "" "0000194659" "0" "77" "8" "119122749" "119122750" "del" "0" "02210" "EXT1_000085" "g.119122749_119122750del" "" "{PMID18165274:Jennes, 2008}" "" "538_539delAG" "" "Germline" "" "" "0" "" "" "g.118110510_118110511del" "" "likely pathogenic" "" "0000194660" "0" "77" "8" "119122749" "119122750" "del" "0" "02210" "EXT1_000086" "g.119122749_119122750del" "" "Jennes, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.118110510_118110511del" "" "likely pathogenic" "" "0000194661" "0" "77" "8" "119122737" "119122737" "dup" "0" "02210" "EXT1_000087" "g.119122737dup" "" "{PMID16088908:Pedrini, 2005}" "" "549_550dupG" "" "Germline" "" "" "0" "" "" "g.118110498dup" "" "likely pathogenic" "" "0000194662" "0" "77" "8" "119122737" "119122738" "del" "0" "02210" "EXT1_000088" "g.119122737_119122738del" "" "{PMID11432960:Francannet, 2001}" "" "549delGT" "" "Germline" "" "" "0" "" "" "g.118110498_118110499del" "" "likely pathogenic" "" "0000194663" "0" "77" "8" "119122724" "119122726" "delins" "0" "02210" "EXT1_000089" "g.119122724_119122726delinsG" "" "{PMID18165274:Jennes, 2008}" "" "560_562delGTAinsC" "" "Germline" "" "" "0" "" "" "g.118110485_118110487delinsG" "" "likely pathogenic" "" "0000194664" "0" "77" "8" "119122716" "119122716" "del" "0" "02210" "EXT1_000696" "g.119122716del" "" "Jennes, not yet published" "" "572delT" "" "Unknown" "" "" "0" "" "" "g.118110477del" "" "likely pathogenic" "" "0000194665" "0" "77" "8" "119122714" "119122714" "subst" "0" "02210" "EXT1_000090" "g.119122714A>G" "" "{PMID17041877:Lonie, 2006}" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Moderately conserved amino acid, Large physicochemical difference between Leu & Ser (Grantham dist.: 145 [0-215]), This variation is in protein domain: Exostosin-like." "Unknown" "" "" "0" "" "" "g.118110475A>G" "" "likely pathogenic" "" "0000194666" "0" "77" "8" "119122714" "119122714" "subst" "0" "02215" "EXT1_000699" "g.119122714A>C" "" "Pedrini, not yet published" "" "" "" "Unknown" "" "" "0" "" "" "g.118110475A>C" "" "likely pathogenic" "" "0000194667" "0" "77" "8" "119122713" "119122717" "del" "0" "02210" "EXT1_000091" "g.119122713_119122717del" "" "{PMID17041877:Lonie, 2006}" "" "573_577delAATTT" "" "Unknown" "" "" "0" "" "" "g.118110474_118110478del" "" "likely pathogenic" "" "0000194668" "0" "77" "8" "119122704" "119122704" "del" "0" "02212" "EXT1_000449" "g.119122704del" "" "Pedrini, not yet published" "" "c.584delT" "" "Unknown" "" "" "0" "" "" "g.118110465del" "" "likely pathogenic" "" "0000194669" "0" "77" "8" "119122696" "119122696" "del" "0" "02210" "EXT1_000092" "g.119122696del" "" "{PMID10480354:Xu, 1999}" "" "590-591delC" "" "Germline" "" "" "0" "" "" "g.118110457del" "" "likely pathogenic" "" "0000194670" "0" "77" "8" "119122694" "119122694" "subst" "0" "02210" "EXT1_000679" "g.119122694C>G" "" "Jennes, not yet published" "" "" "Pathogenicity clues\r\nHighly conserved nucleotide (score: 1.0 [0-1])\r\nHighly conserved amino acid, up to C. elegans (considering 15 species)\r\nModerate physicochemical difference between Gly and Arg (Grantham dist.: 125 [0-215])\r\nThis variation is in protein domain: Exostosin-like" "Unknown" "" "" "0" "" "" "g.118110455C>G" "" "likely pathogenic" "" "0000194672" "0" "77" "8" "119122687" "119122687" "subst" "0" "02210" "EXT1_000093" "g.119122687C>T" "" "{PMID9463333:Wuyts, 1998}" "" "" "" "Germline" "" "" "0" "" "" "g.118110448C>T" "" "likely pathogenic" "" "0000194673" "0" "77" "8" "119122687" "119122687" "subst" "0" "02212" "EXT1_000450" "g.119122687C>T" "" "Pedrini, not yet published" "" "" "" "Unknown" "" "" "0" "" "" "g.118110448C>T" "" "likely pathogenic" "" "0000194674" "0" "77" "8" "119122686" "119122686" "subst" "0" "02210" "EXT1_000094" "g.119122686C>T" "" "{PMID9463333:Wuyts, 1998}" "" "" "" "De novo" "" "" "0" "" "" "g.118110447C>T" "" "likely pathogenic" "" "0000194675" "0" "77" "8" "119122674" "119122683" "delins" "0" "02210" "EXT1_000095" "g.119122674_119122683delinsC" "" "Jennes, not yet published" "" "603_612delTGACTACACCinsG" "" "Germline" "" "" "0" "" "" "g.118110435_118110444delinsC" "" "likely pathogenic" "" "0000194676" "0" "77" "8" "119122678" "119122678" "subst" "0" "02210" "EXT1_000685" "g.119122678T>C" "" "Jennes, not yet published" "" "" "Pathogenicity clues\r\nHighly conserved nucleotide (score: 1.0 [0-1])\r\nHighly conserved amino acid, up to C. elegans (considering 15 species)\r\nLarge physicochemical difference between Tyr and Cys (Grantham dist.: 194 [0-215])\r\nThis variation is in protein domain: Exostosin-like" "Unknown" "" "" "0" "" "" "g.118110439T>C" "" "likely pathogenic" "" "0000194677" "0" "77" "8" "119122663" "119122667" "dup" "0" "02210" "EXT1_000097" "g.119122663_119122667dup" "" "{PMID9463333:Wuyts, 1998}" "" "c.624ins5 (Dup TGGGG)" "Duplication of 5 nucleotides (TGGGG) following nucleotide 624." "Germline" "" "" "0" "" "" "g.118110424_118110428dup" "" "likely pathogenic" "" "0000194678" "0" "77" "8" "119122619" "119122645" "del" "0" "02210" "EXT1_000096" "g.119122619_119122645del" "" "Jennes, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.118110380_118110406del" "" "likely pathogenic" "" "0000194679" "0" "77" "8" "119122623" "119122643" "del" "0" "02210" "EXT1_000098" "g.119122623_119122643del" "" "{PMID11169766:Bernard, 2001}" "" "643del21" "" "Germline" "" "" "0" "" "" "g.118110384_118110404del" "" "likely pathogenic" "" "0000194680" "0" "77" "8" "119122623" "119122643" "del" "0" "02210" "EXT1_000099" "g.119122623_119122643del" "" "{PMID12239711:Hall, 2002}" "" "643del21" "" "Germline" "" "" "0" "" "" "g.118110384_118110404del" "" "likely pathogenic" "" "0000194681" "0" "77" "8" "119122623" "119122643" "del" "0" "02210" "EXT1_000100" "g.119122623_119122643del" "" "{PMID18165274:Jennes, 2008}" "" "" "" "Germline" "" "" "0" "" "" "g.118110384_118110404del" "" "likely pathogenic" "" "0000194682" "0" "77" "8" "119122620" "119122641" "delins" "0" "02210" "EXT1_000101" "g.119122620_119122641delinsG" "" "{PMID11169766:Bernard, 2001}" "" "645del22insC" "" "Unknown" "" "" "0" "" "" "g.118110381_118110402delinsG" "" "likely pathogenic" "" "0000194683" "0" "77" "8" "119122622" "119122635" "del" "0" "02210" "EXT1_000102" "g.119122622_119122635del" "" "{PMID11170095:Seki, 2001}" "" "651_664del14" "" "Germline" "" "" "0" "" "" "g.118110383_118110396del" "" "likely pathogenic" "" "0000194684" "0" "77" "8" "119122622" "119122635" "delins" "0" "02210" "EXT1_000640" "g.119122622_119122635delinsAAA" "" "{PMID19839753:Li, 2009}" "" "" "" "Unknown" "" "" "0" "" "" "g.118110383_118110396delinsAAA" "" "likely pathogenic" "" "0000194685" "0" "77" "8" "119122621" "119122635" "delins" "0" "02210" "EXT1_000103" "g.119122621_119122635delinsAA" "" "{PMID12490068:Shi, 2002}" "" "" "This mutation affects a conserved residu." "Germline" "" "" "0" "" "" "g.118110382_118110396delinsAA" "" "likely pathogenic" "" "0000194686" "0" "77" "8" "119122627" "119122635" "del" "0" "02210" "EXT1_000104" "g.119122627_119122635del" "" "{PMID17041877:Lonie, 2006}" "" "" "" "Unknown" "" "" "0" "" "" "g.118110388_118110396del" "" "likely pathogenic" "" "0000194687" "0" "77" "8" "119122627" "119122627" "subst" "0" "02212" "EXT1_000451" "g.119122627C>T" "" "Pedrini, not yet published" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to C. elegans, Small physicochemical difference between Ser & Asn (Grantham dist.: 46 [0-215]), This variation is in protein domain: Exostosin-like." "Germline" "" "" "0" "" "" "g.118110388C>T" "" "likely pathogenic" "" "0000194688" "0" "77" "8" "119122626" "119122626" "dup" "0" "02213" "EXT1_000550" "g.119122626dup" "" "Casey, not yet published" "" "660dupC" "" "Unknown" "" "" "0" "" "" "g.118110387dup" "" "likely pathogenic" "" "0000194689" "0" "77" "8" "119122607" "119122607" "subst" "0" "02210" "EXT1_000105" "g.119122607G>A" "" "{PMID11170095:Seki, 2001}" "" "" "" "Germline" "" "" "0" "" "" "g.118110368G>A" "" "likely pathogenic" "" "0000194690" "0" "77" "8" "119122607" "119122607" "subst" "0" "02210" "EXT1_000106" "g.119122607G>A" "" "{PMID12239711:Hall, 2002}" "" "" "" "Germline" "" "" "0" "" "" "g.118110368G>A" "" "likely pathogenic" "" "0000194691" "0" "77" "8" "119122608" "119122608" "del" "0" "02210" "EXT1_000107" "g.119122608del" "" "{PMID11432960:Francannet, 2001}" "" "679delC" "" "Germline" "" "" "0" "" "" "g.118110369del" "" "likely pathogenic" "" "0000194692" "0" "77" "8" "119122608" "119122608" "del" "0" "02210" "EXT1_000108" "g.119122608del" "" "Jennes, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.118110369del" "" "likely pathogenic" "" "0000194693" "0" "77" "8" "119122606" "119122606" "del" "0" "02210" "EXT1_000641" "g.119122606del" "" "{PMID19839753:Li, 2009}" "" "c.680delG" "" "Unknown" "" "" "0" "" "" "g.118110367del" "" "likely pathogenic" "" "0000194694" "0" "77" "8" "119122569" "119122583" "del" "0" "02210" "EXT1_000109" "g.119122569_119122583del" "" "{PMID10441575:Bovée, 1999}" "" "702-717delCCCCTCTTTTCTAAG" "PLFSKdel; Deletion of Pro-Leu-Phe-Ser-Lys" "De novo" "" "" "0" "" "" "g.118110330_118110344del" "" "likely pathogenic" "" "0000194695" "0" "77" "8" "119122582" "119122582" "subst" "0" "02210" "EXT1_000110" "g.119122582G>C" "" "Jennes, not yet published" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to C. elegans, Moderate physicochemical difference between Pro & Arg (Grantham dist.: 103 [0-215]), This variation is in protein domain: Exostosin-like." "Germline" "" "" "0" "" "" "g.118110343G>C" "" "likely pathogenic" "" "0000194696" "0" "77" "8" "119122579" "119122580" "del" "0" "02210" "EXT1_000111" "g.119122579_119122580del" "" "{PMID17301954:Signori, 2007}" "" "706-7del2" "" "Unknown" "" "" "0" "" "" "g.118110340_118110341del" "" "likely pathogenic" "" "0000194697" "0" "77" "8" "119122577" "119122577" "del" "0" "02210" "EXT1_000112" "g.119122577del" "" "{PMID11432960:Francannet, 2001}" "" "712delT" "" "Germline" "" "" "0" "" "" "g.118110338del" "" "likely pathogenic" "" "0000194698" "0" "77" "8" "119122577" "119122577" "del" "0" "02210" "EXT1_000113" "g.119122577del" "" "{PMID11432960:Francannet, 2001}" "" "712delT" "" "Germline" "" "" "0" "" "" "g.118110338del" "" "likely pathogenic" "" "0000194699" "0" "77" "8" "119122573" "119122573" "del" "0" "02210" "EXT1_000114" "g.119122573del" "" "{PMID8981950:Hecht, 1997}" "" "1364delC" "This frameshift creates a premature stop codon at nucleotide 1403." "Germline" "" "" "0" "" "" "g.118110334del" "" "likely pathogenic" "" "0000194700" "0" "77" "8" "119122573" "119122573" "del" "0" "02210" "EXT1_000115" "g.119122573del" "" "{PMID8981950:Hecht, 1997}" "" "1364delC" "This frameshift creates a premature stop codon at nucleotide 1403." "Germline" "" "" "0" "" "" "g.118110334del" "" "likely pathogenic" "" "0000194701" "0" "77" "8" "119122573" "119122573" "del" "0" "02210" "EXT1_000116" "g.119122573del" "" "{PMID:Dobson-Stone 2000:10713884}" "" "713delC" "" "Unknown" "" "" "0" "" "" "g.118110334del" "" "likely pathogenic" "" "0000194702" "0" "77" "8" "119122573" "119122573" "del" "0" "02213" "EXT1_000551" "g.119122573del" "" "Casey, not yet published" "" "713delC" "This frameshift creates a premature stop codon at nucleotide 1403." "Unknown" "" "" "0" "" "" "g.118110334del" "" "likely pathogenic" "" "0000194703" "0" "77" "8" "119122562" "119122562" "del" "0" "02213" "EXT1_000552" "g.119122562del" "" "Casey, not yet published" "" "726delC" "" "Unknown" "" "" "0" "" "" "g.118110323del" "" "likely pathogenic" "" "0000194704" "0" "55" "8" "119122562" "119122562" "dup" "0" "02216" "EXT1_000712" "g.119122562dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.118110323dup" "" "VUS" "" "0000194705" "0" "77" "8" "119122555" "119122555" "del" "0" "02210" "EXT1_000117" "g.119122555del" "" "Jennes, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.118110316del" "" "likely pathogenic" "" "0000194706" "0" "77" "8" "119122544" "119122544" "del" "0" "02215" "EXT1_000634" "g.119122544del" "" "Pedrini, not yet published" "" "c.742delA" "" "Germline" "" "" "0" "" "" "g.118110305del" "" "likely pathogenic" "" "0000194707" "0" "77" "8" "119122546" "119122547" "del" "0" "02210" "EXT1_000619" "g.119122546_119122547del" "" "{PMID18976157:Kojima, 2008}" "" "c.742_743delAG" "" "Germline" "" "" "0" "" "" "g.118110307_118110308del" "" "likely pathogenic" "" "0000194708" "0" "77" "8" "119122543" "119122544" "ins" "0" "02210" "EXT1_000118" "g.119122543_119122544insAA" "" "{PMID10679937:Wuyts, 2000}" "" "" "" "Unknown" "" "" "0" "" "" "g.118110304_118110305insAA" "" "likely pathogenic" "" "0000194709" "0" "77" "8" "119122538" "119122538" "del" "0" "02214" "EXT1_000590" "g.119122538del" "" "Asteggiano, not yet published" "" "748delT" "" "Germline" "" "" "0" "" "" "g.118110299del" "" "likely pathogenic" "" "0000194710" "0" "77" "8" "119122500" "119122500" "subst" "0" "02210" "EXT1_000609" "g.119122500G>T" "" "{PMID19344451:Heinritz, 2009}" "" "" "" "Germline" "" "" "0" "" "" "g.118110261G>T" "" "likely pathogenic" "" "0000194711" "0" "77" "8" "119122500" "119122500" "subst" "0" "02210" "EXT1_000119" "g.119122500G>C" "" "{PMID18165274:Jennes, 2008}" "" "" "" "Germline" "" "" "0" "" "" "g.118110261G>C" "" "likely pathogenic" "" "0000194712" "0" "77" "8" "119122500" "119122500" "subst" "0" "02215" "EXT1_000711" "g.119122500G>C" "" "Pedrini, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.118110261G>C" "" "likely pathogenic" "" "0000194713" "0" "77" "8" "119122492" "119122499" "del" "0" "02210" "EXT1_000120" "g.119122492_119122499del" "" "Jennes, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.118110253_118110260del" "" "likely pathogenic" "" "0000194714" "0" "77" "8" "119122494" "119122494" "del" "0" "02210" "EXT1_000121" "g.119122494del" "" "{PMID18165274:Jennes, 2008}" "" "793delG" "" "Germline" "" "" "0" "" "" "g.118110255del" "" "likely pathogenic" "" "0000194715" "0" "77" "8" "119122484" "119122484" "subst" "0" "02210" "EXT1_000122" "g.119122484C>T" "" "Jennes, not yet published" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to C. elegans, Moderate physicochemical difference between Gly & Arg (Grantham dist.: 125 [0-215]), This variation is in protein domain: Exostosin-like." "Germline" "" "" "0" "" "" "g.118110245C>T" "" "likely pathogenic" "" "0000194716" "0" "77" "8" "119122484" "119122484" "subst" "0" "02212" "EXT1_000452" "g.119122484C>T" "" "Pedrini, not yet published" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to C. elegans, Moderate physicochemical difference between Gly & Arg (Grantham dist.: 125 [0-215]), This variation is in protein domain: Exostosin-like." "Unknown" "" "" "0" "" "" "g.118110245C>T" "" "likely pathogenic" "" "0000194717" "0" "77" "8" "119122484" "119122484" "subst" "0" "02210" "EXT1_000123" "g.119122484C>G" "" "Jennes, not yet published" "" "" "Pathogenicity clues: Highly conserved nucleotide (score:1.0[0-1]), Highly conserved amino acid, up to C. elegans, Moderate physicochemical difference between Gly & Arg (Grantham dist.:125[0-215]), This variation is in protein domain: Exostosin-like." "Germline" "" "" "0" "" "" "g.118110245C>G" "" "likely pathogenic" "" "0000194718" "0" "77" "8" "119122484" "119122485" "del" "0" "02212" "EXT1_000453" "g.119122484_119122485del" "" "Pedrini, not yet published" "" "c.803_804delGG" "" "Germline" "" "" "0" "" "" "g.118110245_118110246del" "" "likely pathogenic" "" "0000194719" "0" "77" "8" "119122482" "119122483" "ins" "0" "02210" "EXT1_000124" "g.119122482_119122483insA" "" "{PMID17301954:Signori, 2007}" "" "" "" "Unknown" "" "" "0" "" "" "g.118110243_118110244insA" "" "likely pathogenic" "" "0000194720" "0" "77" "8" "119122485" "119122485" "del" "0" "02213" "EXT1_000553" "g.119122485del" "" "Casey, not yet published" "" "804delG" "" "Unknown" "" "" "0" "" "" "g.118110246del" "" "likely pathogenic" "" "0000194721" "0" "77" "8" "119122485" "119122485" "del" "0" "02213" "EXT1_000554" "g.119122485del" "" "Casey, not yet published" "" "804delG" "" "Unknown" "" "" "0" "" "" "g.118110246del" "" "likely pathogenic" "" "0000194722" "0" "77" "8" "119122485" "119122485" "del" "0" "02213" "EXT1_000555" "g.119122485del" "" "Casey, not yet published" "" "804delG" "" "Unknown" "" "" "0" "" "" "g.118110246del" "" "likely pathogenic" "" "0000194723" "0" "77" "8" "119122482" "119122482" "delins" "0" "02215" "EXT1_000708" "g.119122482delinsAAGA" "" "Pedrini, not yet published" "" "" "" "Unknown" "" "" "0" "" "" "g.118110243delinsAAGA" "" "likely pathogenic" "" "0000194724" "0" "77" "8" "119122478" "119122478" "subst" "0" "02212" "EXT1_000454" "g.119122478T>A" "" "Pedrini, not yet published" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to C. elegans, Moderate physicochemical difference between Arg & Trp (Grantham dist.: 101 [0-215]), This variation is in protein domain: Exostosin-like." "Germline" "" "" "0" "" "" "g.118110239T>A" "" "likely pathogenic" "" "0000194725" "0" "77" "8" "119122475" "119122475" "subst" "0" "02210" "EXT1_000125" "g.119122475A>T" "" "Jennes, not yet published" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to C. elegans, Large physicochemical difference between Tyr & Asn (Grantham dist.: 143 [0-215]), This variation is in protein domain: Exostosin-like." "Germline" "" "" "0" "" "" "g.118110236A>T" "" "likely pathogenic" "" "0000194726" "0" "77" "8" "119122475" "119122475" "subst" "0" "02210" "EXT1_000126" "g.119122475A>G" "" "{PMID17767039:Li, 2007}" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to C. elegans, Moderate physicochemical difference between Tyr & His (Grantham dist.: 83 [0-215]), This variation is in protein domain: Exostosin-like." "Germline" "" "" "0" "" "" "g.118110236A>G" "" "likely pathogenic" "" "0000194727" "0" "77" "8" "119122474" "119122475" "ins" "0" "02215" "EXT1_000698" "g.119122474_119122475insCT" "" "Pedrini, not yet published" "" "" "" "Unknown" "" "" "0" "" "" "g.118110235_118110236insCT" "" "likely pathogenic" "" "0000194728" "0" "77" "8" "119122474" "119122474" "subst" "0" "02210" "EXT1_000680" "g.119122474T>C" "" "Jennes, not yet published" "" "" "Pathogenicity clues\r\nHighly conserved nucleotide (score: 1.0 [0-1])\r\nHighly conserved amino acid, up to C. elegans (considering 15 species)\r\nLarge physicochemical difference between Tyr and Cys (Grantham dist.: 194 [0-215])\r\nThis variation is in protein domain: Exostosin-like" "Unknown" "" "" "0" "" "" "g.118110235T>C" "" "likely pathogenic" "" "0000194729" "0" "77" "8" "119122473" "119122473" "subst" "0" "02210" "EXT1_000127" "g.119122473G>C" "" "Jennes, not yet published" "" "" "" "De novo" "" "" "0" "" "" "g.118110234G>C" "" "likely pathogenic" "" "0000194730" "0" "77" "8" "119122465" "119122466" "del" "0" "02210" "EXT1_000128" "g.119122465_119122466del" "" "{PMID11170095:Seki, 2001}" "" "820_821delGG" "" "Germline" "" "" "0" "" "" "g.118110226_118110227del" "" "likely pathogenic" "" "0000194731" "0" "77" "8" "119122466" "119122466" "del" "0" "02210" "EXT1_000129" "g.119122466del" "" "Jennes, not yet published" "" "1473delG" "" "Germline" "" "" "0" "" "" "g.118110227del" "" "likely pathogenic" "" "0000194732" "0" "77" "8" "119122466" "119122466" "del" "0" "02212" "EXT1_000455" "g.119122466del" "" "Pedrini, not yet published" "" "c.822delG" "" "Unknown" "" "" "0" "" "" "g.118110227del" "" "likely pathogenic" "" "0000194733" "0" "77" "8" "119122456" "119122456" "subst" "0" "02212" "EXT1_000456" "g.119122456G>T" "" "Pedrini, not yet published" "" "" "" "Unknown" "" "" "0" "" "" "g.118110217G>T" "" "likely pathogenic" "" "0000194734" "0" "77" "8" "119122456" "119122456" "subst" "0" "02210" "EXT1_000130" "g.119122456G>C" "" "{PMID16638657:Chen, 2006}" "" "" "" "Germline" "" "" "0" "" "" "g.118110217G>C" "" "likely pathogenic" "" "0000194735" "0" "77" "8" "119122452" "119122452" "del" "0" "02215" "EXT1_000703" "g.119122452del" "" "Pedrini, not yet published" "" "" "" "Unknown" "" "" "0" "" "" "g.118110213del" "" "likely pathogenic" "" "0000194736" "0" "79" "8" "119122450" "119122450" "dup" "0" "02210" "EXT1_000602" "g.119122450dup" "" "Jennes, not yet published" "" "c.837dupC" "" "Germline" "" "" "0" "" "" "g.118110211dup" "" "likely pathogenic" "" "0000194737" "0" "79" "8" "119122448" "119122448" "subst" "0" "02210" "EXT1_000131" "g.119122448T>C" "" "{PMID9521425:Raskind, 1998}" "" "1489A>G" "This variant is reported as pathogenic by Uniprot. This frameshift is located in a polypyrimidine tract." "Germline" "" "" "0" "" "" "g.118110209T>C" "" "likely pathogenic" "" "0000194738" "0" "79" "8" "119122448" "119122448" "subst" "0" "02210" "EXT1_000132" "g.119122448T>C" "" "{PMID9463333:Wuyts, 1998}" "" "" "This variant is reported as pathogenic by Uniprot. This frameshift is located in a polypyrimidine tract." "Germline" "" "" "0" "" "" "g.118110209T>C" "" "likely pathogenic" "" "0000194739" "0" "75" "8" "119122447" "119122447" "subst" "0" "02220" "EXT1_000719" "g.119122447C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.118110208C>G" "" "likely pathogenic" "" "0000194740" "0" "79" "8" "119122447" "119122447" "subst" "0" "02210" "EXT1_000600" "g.119122447C>A" "" "Jennes, not yet published" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to C. elegans, Moderate physicochemical difference between Arg & Met (Grantham dist.: 91 [0-215]), This variation is in protein domain: Exostosin-like." "Unknown" "" "" "0" "" "" "g.118110208C>A" "" "likely pathogenic" "" "0000194741" "0" "79" "8" "119122446" "119122446" "subst" "0" "02210" "EXT1_000133" "g.119122446C>G" "" "{PMID9521425:Raskind, 1998}" "" "1491G>C" "This variant is reported as pathogenic by Uniprot. This Frameshift is located in a polypyrimidine tract. Amino acid 280 seems to be essential for the proper functioning of the protein." "De novo" "" "" "0" "" "" "g.118110207C>G" "" "likely pathogenic" "" "0000194742" "0" "79" "8" "119122446" "119122446" "subst" "0" "02152" "EXT1_000404" "g.119122446C>G" "" "Bakker, not yet published" "" "" "This variant is reported as pathogenic by Uniprot." "Unknown" "" "" "0" "" "" "g.118110207C>G" "" "likely pathogenic" "" "0000194743" "21" "97" "8" "119122438" "119122438" "subst" "0" "02214" "EXT1_000587" "g.119122438A>T" "" "Asteggiano, not yet published" "" "Delgado et al, 2012" "" "Germline" "" "" "0" "" "" "g.118110199A>T" "" "pathogenic" "" "0000194744" "0" "77" "8" "119122437" "119122438" "dup" "0" "02215" "EXT1_000707" "g.119122437_119122438dup" "" "Pedrini, not yet published" "" "c.852_853insAT" "" "Unknown" "" "" "0" "" "" "g.118110198_118110199dup" "" "likely pathogenic" "" "0000194745" "0" "77" "8" "119122434" "119122434" "dup" "0" "02210" "EXT1_000134" "g.119122434dup" "" "Jennes, not yet published" "" "c.852_853insT" "" "Germline" "" "" "0" "" "" "g.118110195dup" "" "likely pathogenic" "" "0000194746" "0" "77" "8" "119122420" "119122421" "del" "0" "02212" "EXT1_000457" "g.119122420_119122421del" "" "Pedrini, not yet published" "" "c.865_866delGG" "" "Unknown" "" "" "0" "" "" "g.118110181_118110182del" "" "likely pathogenic" "" "0000194747" "0" "77" "8" "119122411" "119122411" "dup" "0" "02210" "EXT1_000135" "g.119122411dup" "" "{PMID10679937:Wuyts, 2000}" "" "876_877insT" "" "Unknown" "" "" "0" "" "" "g.118110172dup" "" "likely pathogenic" "" "0000194748" "0" "75" "8" "119122405" "119122405" "subst" "0" "02216" "EXT1_000713" "g.119122405A>C" "" "" "" "" "Highly conserved amino-acid in exostosin domain. Probably damaging (Polyphen 2, score 0.961). Predicted to affect protein function (score Sift 0.01)" "Unknown" "" "" "0" "" "" "g.118110166A>C" "" "likely pathogenic" "" "0000194749" "0" "77" "8" "119122392" "119122392" "subst" "0" "02210" "EXT1_000136" "g.119122392G>T" "" "{PMID16088908:Pedrini, 2005}" "" "" "" "Germline" "" "" "0" "" "" "g.118110153G>T" "" "likely pathogenic" "" "0000194750" "0" "77" "8" "119122385" "119122385" "del" "0" "02152" "EXT1_000405" "g.119122385del" "" "Bakker, not yet published" "" "" "" "Unknown" "" "" "0" "" "" "g.118110146del" "" "likely pathogenic" "" "0000194751" "0" "77" "8" "119122382" "119122382" "del" "0" "02212" "EXT1_000458" "g.119122382del" "" "Pedrini, not yet published" "" "c.906delA" "" "Germline" "" "" "0" "" "" "g.118110143del" "" "likely pathogenic" "" "0000194752" "0" "77" "8" "119122374" "119122374" "subst" "0" "02210" "EXT1_000137" "g.119122374C>T" "" "Jennes, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.118110135C>T" "" "likely pathogenic" "" "0000194753" "0" "77" "8" "119122373" "119122373" "subst" "0" "02210" "EXT1_000138" "g.119122373G>A" "" "{PMID17301954:Signori, 2007}" "" "" "" "Unknown" "" "" "0" "" "" "g.118110134G>A" "" "likely pathogenic" "" "0000194754" "0" "77" "8" "119122370" "119122370" "subst" "0" "02214" "EXT1_000626" "g.119122370T>A" "" "Asteggiano, not yet published" "" "c.916A>T" "" "De novo" "" "" "0" "" "" "g.118110131T>A" "" "likely pathogenic" "" "0000194755" "0" "77" "8" "119122352" "119122352" "del" "0" "02212" "EXT1_000459" "g.119122352del" "" "Pedrini, not yet published" "" "c.934delT" "" "Germline" "" "" "0" "" "" "g.118110113del" "" "likely pathogenic" "" "0000194756" "0" "77" "8" "119122345" "119122346" "del" "0" "02210" "EXT1_000139" "g.119122345_119122346del" "" "{PMID10679937:Wuyts, 2000}" "" "943delGA" "" "Unknown" "" "" "0" "" "" "g.118110106_118110107del" "" "likely pathogenic" "" "0000194757" "0" "77" "8" "119122345" "119122346" "del" "0" "02210" "EXT1_000140" "g.119122345_119122346del" "" "{PMID17301954:Signori, 2007}" "" "943-4del2" "" "Unknown" "" "" "0" "" "" "g.118110106_118110107del" "" "likely pathogenic" "" "0000194758" "0" "79" "8" "119122339" "119122339" "subst" "0" "02210" "EXT1_000141" "g.119122339T>C" "" "{PMID10441575:Bovée, 1999}" "" "" "This variant is reported as pathogenic by Uniprot." "Unknown" "" "" "0" "" "" "g.118110100T>C" "" "likely pathogenic" "" "0000194759" "0" "77" "8" "119122328" "119122328" "subst" "0" "02152" "EXT1_000406" "g.119122328C>A" "" "Bakker, not yet published" "" "" "" "Unknown" "" "" "0" "" "" "g.118110089C>A" "" "likely pathogenic" "" "0000194760" "0" "77" "8" "119122323" "119122323" "subst" "0" "02210" "EXT1_000142" "g.119122323C>T" "" "Jennes, not yet published" "" "" "This substitution is located in the donor splice site of intron 1." "Germline" "" "" "0" "" "" "g.118110084C>T" "" "likely pathogenic" "" "0000194761" "0" "77" "8" "119122323" "119122323" "subst" "0" "02210" "EXT1_000143" "g.119122323C>G" "" "{PMID15253765:Faiyaz-Ul-Haque, 2004}" "" "" "This substitution is located in the donor splice site of intron 1. The consequence of this change is not predictable, but a skip of exon 1 is very likely." "Germline" "" "" "0" "" "" "g.118110084C>G" "" "likely pathogenic" "" "0000194762" "0" "77" "8" "119122323" "119122323" "subst" "0" "02210" "EXT1_000144" "g.119122323C>G" "" "Jennes, not yet published" "" "" "This substitution is located in the donor splice site of intron 1. The consequence of this change is not predictable, but a skip of exon 1 is very likely." "Germline" "" "" "0" "" "" "g.118110084C>G" "" "likely pathogenic" "" "0000194763" "0" "77" "8" "119122323" "119122323" "subst" "0" "02210" "EXT1_000145" "g.119122323C>A" "" "Jennes, not yet published" "" "" "This substitution is located in the donor splice site of intron 1. The consequence of this change is not predictable, but a skip of exon 1 is very likely." "Germline" "" "" "0" "" "" "g.118110084C>A" "" "likely pathogenic" "" "0000194764" "0" "77" "8" "119122322" "119122325" "del" "0" "02210" "EXT1_000610" "g.119122322_119122325del" "" "{PMID19344451:Heinritz, 2009}" "" "c.962+1_962+4del4" "This deletion alters the donor splice site of exon 1. The consequence of this change is not predictable, but a skip of exon 1 is very likely." "Germline" "" "" "0" "" "" "g.118110083_118110086del" "" "likely pathogenic" "" "0000194765" "0" "77" "8" "119122322" "119122322" "subst" "0" "02210" "EXT1_000146" "g.119122322A>G" "" "{PMID:Dobson-Stone 2000:10713884}" "" "" "This substitution is located in the donor splice site of intron 1. The consequence of this change is not predictable, but a skip of exon 1 is very likely." "Unknown" "" "" "0" "" "" "g.118110083A>G" "" "likely pathogenic" "" "0000194766" "0" "77" "8" "119122322" "119122325" "del" "0" "02210" "EXT1_000147" "g.119122322_119122325del" "" "Jennes, not yet published" "" "962+3delAAGT" "This deletion is close to the donor splice site of exon 1. The consequence of this change is not predictable, but a skip of exon 1 is possible." "Germline" "" "" "0" "" "" "g.118110083_118110086del" "" "likely pathogenic" "" "0000194767" "0" "51" "8" "119122315" "119122318" "del" "0" "02210" "EXT1_000148" "g.119122315_119122318del" "" "{PMID17301954:Signori, 2007}" "" "962(+8+11)del4" "This deletion is close to the donor splice site of exon 1. It has been reported not cosegregating with MO phenotype and in combination with a pathogenic EXT mutation" "Unknown" "" "" "0" "" "" "g.118110076_118110079del" "" "VUS" "" "0000194768" "0" "77" "8" "118849442" "118849442" "subst" "0" "02210" "EXT1_000150" "g.118849442T>C" "" "{PMID15586175:Vink, 2004}" "" "" "This substitution is located in the acceptor splice site of intron 1. The consequence of this change is not predictable, but a skip of exon 2 is very likely." "Germline" "" "" "0" "" "" "g.117837203T>C" "" "likely pathogenic" "" "0000194769" "0" "77" "8" "118849442" "118849442" "subst" "0" "02210" "EXT1_000151" "g.118849442T>C" "" "{PMID18165274:Jennes, 2008}" "" "963-2G>A" "This substitution is located in the acceptor splice site of intron 1. The consequence of this change is not predictable, but a skip of exon 2 is very likely." "Germline" "" "" "0" "" "" "g.117837203T>C" "" "likely pathogenic" "" "0000194770" "0" "77" "8" "118849442" "118849442" "subst" "0" "02210" "EXT1_000152" "g.118849442T>C" "" "Jennes, not yet published" "" "963-2G>A" "This substitution is located in the acceptor splice site of intron 1. The consequence of this change is not predictable, but a skip of exon 2 is very likely." "Germline" "" "" "0" "" "" "g.117837203T>C" "" "likely pathogenic" "" "0000194771" "0" "77" "8" "118849442" "118849442" "subst" "0" "02212" "EXT1_000461" "g.118849442T>C" "" "Pedrini, not yet published" "" "c.963(-2)A>G" "This substitution is located in the acceptor splice site of intron 1. The consequence of this change is not predictable, but a skip of exon 2 is very likely." "Germline" "" "" "0" "" "" "g.117837203T>C" "" "likely pathogenic" "" "0000194772" "0" "77" "8" "118849442" "118849442" "subst" "0" "02212" "EXT1_000462" "g.118849442T>C" "" "Pedrini, not yet published" "" "c.963(-2)A>G" "This substitution is located in the acceptor splice site of intron 1. The consequence of this change is not predictable, but a skip of exon 2 is very likely." "Germline" "" "" "0" "" "" "g.117837203T>C" "" "likely pathogenic" "" "0000194773" "0" "77" "8" "118849441" "118849441" "subst" "0" "02152" "EXT1_000407" "g.118849441C>T" "" "Bakker, not yet published" "" "" "This substitution is located in the acceptor splice site of intron 1. The consequence of this change is not predictable, but a skip of exon 2 is very likely." "Unknown" "" "" "0" "" "" "g.117837202C>T" "" "likely pathogenic" "" "0000194774" "0" "77" "8" "118849441" "118849441" "subst" "0" "02212" "EXT1_000460" "g.118849441C>T" "" "Pedrini, not yet published" "" "c.973(-1)G>A" "This substitution is located in the acceptor splice site of intron 1. The consequence of this change is not predictable, but a skip of exon 2 is very likely." "Unknown" "" "" "0" "" "" "g.117837202C>T" "" "likely pathogenic" "" "0000194775" "0" "77" "8" "118849441" "118849441" "subst" "0" "02210" "EXT1_000149" "g.118849441C>A" "" "Jennes, not yet published" "" "IVS1-1G>T" "This substitution is located in the acceptor splice site of intron 1. The consequence of this change is not predictable, but a skip of exon 2 is very likely." "Germline" "" "" "0" "" "" "g.117837202C>A" "" "likely pathogenic" "" "0000194776" "0" "77" "8" "118811602" "118849441" "del" "0" "02210" "EXT1_000015" "g.(?_118811602)_(118849441_119122323)del" "" "{PMID15221792:White, 2004}" "" "c.963-?_3287+?del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000194777" "0" "77" "8" "118849437" "118849437" "subst" "0" "02210" "EXT1_000153" "g.118849437A>T" "" "Jennes, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.117837198A>T" "" "likely pathogenic" "" "0000194778" "0" "77" "8" "118849437" "118849437" "subst" "0" "02210" "EXT1_000154" "g.118849437A>C" "" "{PMID17041877:Lonie, 2006}" "" "" "" "Unknown" "" "" "0" "" "" "g.117837198A>C" "" "likely pathogenic" "" "0000194779" "0" "77" "8" "118849429" "118849429" "del" "0" "02212" "EXT1_000463" "g.118849429del" "" "Pedrini, not yet published" "" "c.974delG" "" "Unknown" "" "" "0" "" "" "g.117837190del" "" "likely pathogenic" "" "0000194780" "0" "77" "8" "118849427" "118849427" "subst" "0" "02212" "EXT1_000464" "g.118849427C>A" "" "Pedrini, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.117837188C>A" "" "likely pathogenic" "" "0000194781" "0" "77" "8" "118849427" "118849427" "subst" "0" "02210" "EXT1_000611" "g.118849427C>A" "" "{PMID19344451:Heinritz, 2009}" "" "" "" "Germline" "" "" "0" "" "" "g.117837188C>A" "" "likely pathogenic" "" "0000194782" "0" "77" "8" "118849411" "118849411" "subst" "0" "02210" "EXT1_000155" "g.118849411G>T" "" "{PMID18165274:Jennes, 2008}" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to Frog, Moderate physicochemical difference between Ala & Asp (Grantham dist.: 126 [0-215]), This variation is in protein domain: Exostosin-like." "Germline" "" "" "0" "" "" "g.117837172G>T" "" "likely pathogenic" "" "0000194783" "0" "77" "8" "118849411" "118849411" "subst" "0" "02210" "EXT1_000156" "g.118849411G>T" "" "{PMID18165274:Jennes, 2008}" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to Frog, Moderate physicochemical difference between Ala & Asp (Grantham dist.: 126 [0-215]), This variation is in protein domain: Exostosin-like." "Germline" "" "" "0" "" "" "g.117837172G>T" "" "likely pathogenic" "" "0000194784" "0" "77" "8" "118849411" "118849411" "subst" "0" "02210" "EXT1_000157" "g.118849411G>T" "" "Jennes, not yet published" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to Frog, Moderate physicochemical difference between Ala & Asp (Grantham dist.: 126 [0-215]), This variation is in protein domain: Exostosin-like." "Germline" "" "" "0" "" "" "g.117837172G>T" "" "likely pathogenic" "" "0000194785" "0" "77" "8" "118849411" "118849411" "subst" "0" "02210" "EXT1_000682" "g.118849411G>A" "" "Jennes, not yet published" "" "" "Pathogenicity clues\r\nHighly conserved nucleotide (score: 1.0 [0-1])\r\nHighly conserved amino acid, up to Frog (considering 15 species)\r\nSmall physicochemical difference between Ala and Val (Grantham dist.: 64 [0-215])\r\nThis variation is in protein domain: Exostosin-like" "Unknown" "" "" "0" "" "" "g.117837172G>A" "" "likely pathogenic" "" "0000194786" "0" "77" "8" "118849399" "118849399" "subst" "0" "02210" "EXT1_000687" "g.118849399A>C" "" "{PMID:Pei 2010:21039224}" "" "" "Pathogenicity clues\r\nHighly conserved nucleotide (score: 1.00 [0-1])\r\nHighly conserved amino acid, up to C. elegans (considering 15 species)\r\nModerate physicochemical difference between Leu and Arg (Grantham dist.: 102 [0-215])\r\nThis variation is in protein domain: Exostosin-like" "Germline" "" "" "0" "" "" "g.117837160A>C" "" "likely pathogenic" "" "0000194787" "0" "77" "8" "118849398" "118849398" "del" "0" "02212" "EXT1_000465" "g.118849398del" "" "Pedrini, not yet published" "" "c.1006delG" "" "Unknown" "" "" "0" "" "" "g.117837159del" "" "likely pathogenic" "" "0000194788" "0" "77" "8" "118849391" "118849391" "del" "0" "02210" "EXT1_000158" "g.118849391del" "" "{PMID17041877:Lonie, 2006}" "" "1012delC" "" "Unknown" "" "" "0" "" "" "g.117837152del" "" "likely pathogenic" "" "0000194789" "0" "79" "8" "118849387" "118849387" "subst" "0" "02210" "EXT1_000159" "g.118849387C>T" "" "{PMID9326317:Philippe, 1997}" "" "(Protein: G339D, GGT>GAT)" "This variant is reported as pathogenic by Uniprot. Located in a possible crucial domain for the proper functioning of the protein. The mutation occurs in a potential 3-AA proteolysis/amidation site." "Germline" "" "" "0" "" "" "g.117837148C>T" "" "likely pathogenic" "" "0000194791" "0" "77" "8" "118849387" "118849387" "subst" "0" "02210" "EXT1_000160" "g.118849387C>A" "" "{PMID16088908:Pedrini, 2005}" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to C. elegans, Moderate physicochemical difference between Gly & Val (Grantham dist.: 109 [0-215]), This variation is in protein domain: Exostosin-like." "Unknown" "" "" "0" "" "" "g.117837148C>A" "" "likely pathogenic" "" "0000194792" "0" "79" "8" "118849385" "118849385" "subst" "0" "02210" "EXT1_000161" "g.118849385G>T" "" "{PMID9463333:Wuyts, 1998}" "" "C1018A" "This variant is reported as pathogenic by Uniprot." "Germline" "" "" "0" "" "" "g.117837146G>T" "" "likely pathogenic" "" "0000194793" "0" "79" "8" "118849385" "118849385" "subst" "0" "02210" "EXT1_000162" "g.118849385G>A" "" "{PMID9326317:Philippe, 1997}" "" "(Protein: R340c. CGC>TGC)" "This variant is reported as pathogenic by Uniprot. Located in a possible crucial domain for the proper functioning of the protein. The mutation occurs in a potential 3-AA proteolysis/amidation site." "De novo" "" "" "0" "" "" "g.117837146G>A" "" "likely pathogenic" "" "0000194794" "0" "79" "8" "118849385" "118849385" "subst" "0" "02210" "EXT1_000163" "g.118849385G>A" "" "{PMID:Dobson-Stone 2000:10713884}" "" "" "This variant is reported as pathogenic by Uniprot." "Unknown" "" "" "0" "" "" "g.117837146G>A" "" "likely pathogenic" "" "0000194795" "0" "79" "8" "118849385" "118849385" "subst" "0" "02210" "EXT1_000164" "g.118849385G>A" "" "{PMID11432960:Francannet, 2001}" "" "" "This variant is reported as pathogenic by Uniprot." "Germline" "" "" "0" "" "" "g.117837146G>A" "" "likely pathogenic" "" "0000194796" "0" "79" "8" "118849385" "118849385" "subst" "0" "02210" "EXT1_000165" "g.118849385G>A" "" "{PMID11432960:Francannet, 2001}" "" "" "This variant is reported as pathogenic by Uniprot." "Germline" "" "" "0" "" "" "g.117837146G>A" "" "likely pathogenic" "" "0000194797" "0" "79" "8" "118849385" "118849385" "subst" "0" "02210" "EXT1_000166" "g.118849385G>A" "" "{PMID11432960:Francannet, 2001}" "" "" "This variant is reported as pathogenic by Uniprot." "Germline" "" "" "0" "" "" "g.117837146G>A" "" "likely pathogenic" "" "0000194798" "0" "79" "8" "118849385" "118849385" "subst" "0" "02210" "EXT1_000167" "g.118849385G>A" "" "{PMID12239711:Hall, 2002}" "" "" "This variant is reported as pathogenic by Uniprot." "Germline" "" "" "0" "" "" "g.117837146G>A" "" "likely pathogenic" "" "0000194799" "0" "79" "8" "118849385" "118849385" "subst" "0" "02210" "EXT1_000168" "g.118849385G>A" "" "{PMID16088908:Pedrini, 2005}" "" "" "This variant is reported as pathogenic by Uniprot." "Germline" "" "" "0" "" "" "g.117837146G>A" "" "likely pathogenic" "" "0000194800" "0" "79" "8" "118849385" "118849385" "subst" "0" "02210" "EXT1_000169" "g.118849385G>A" "" "{PMID15586175:Vink, 2004}" "" "" "This variant is reported as pathogenic by Uniprot." "Unknown" "" "" "0" "" "" "g.117837146G>A" "" "likely pathogenic" "" "0000194801" "0" "79" "8" "118849385" "118849385" "subst" "0" "02210" "EXT1_000170" "g.118849385G>A" "" "{PMID17301954:Signori, 2007}" "" "" "This variant is reported as pathogenic by Uniprot." "Unknown" "" "" "0" "" "" "g.117837146G>A" "" "likely pathogenic" "" "0000194802" "0" "79" "8" "118849385" "118849385" "subst" "0" "02210" "EXT1_000171" "g.118849385G>A" "" "{PMID17301954:Signori, 2007}" "" "" "This variant is reported as pathogenic by Uniprot." "Unknown" "" "" "0" "" "" "g.117837146G>A" "" "likely pathogenic" "" "0000194803" "0" "79" "8" "118849385" "118849385" "subst" "0" "02210" "EXT1_000172" "g.118849385G>A" "" "Jennes, not yet published" "" "" "This variant is reported as pathogenic by Uniprot." "Germline" "" "" "0" "" "" "g.117837146G>A" "" "likely pathogenic" "" "0000194804" "0" "79" "8" "118849385" "118849385" "subst" "0" "02210" "EXT1_000173" "g.118849385G>A" "" "Jennes, not yet published" "" "" "This variant is reported as pathogenic by Uniprot." "Germline" "" "" "0" "" "" "g.117837146G>A" "" "likely pathogenic" "" "0000194805" "0" "79" "8" "118849385" "118849385" "subst" "0" "02210" "EXT1_000174" "g.118849385G>A" "" "Jennes, not yet published" "" "" "This variant is reported as pathogenic by Uniprot." "Germline" "" "" "0" "" "" "g.117837146G>A" "" "likely pathogenic" "" "0000194806" "0" "79" "8" "118849385" "118849385" "subst" "0" "02152" "EXT1_000408" "g.118849385G>A" "" "Bakker, not yet published" "" "" "This variant is reported as pathogenic by Uniprot." "Unknown" "" "" "0" "" "" "g.117837146G>A" "" "likely pathogenic" "" "0000194807" "0" "79" "8" "118849385" "118849385" "subst" "0" "02212" "EXT1_000466" "g.118849385G>A" "" "Pedrini, not yet published" "" "" "This variant is reported as pathogenic by Uniprot." "Unknown" "" "" "0" "" "" "g.117837146G>A" "" "likely pathogenic" "" "0000194808" "0" "79" "8" "118849385" "118849385" "subst" "0" "02212" "EXT1_000467" "g.118849385G>A" "" "Pedrini, not yet published" "" "" "This variant is reported as pathogenic by Uniprot." "Unknown" "" "" "0" "" "" "g.117837146G>A" "" "likely pathogenic" "" "0000194809" "0" "79" "8" "118849385" "118849385" "subst" "0" "02212" "EXT1_000468" "g.118849385G>A" "" "Pedrini, not yet published" "" "" "This variant is reported as pathogenic by Uniprot." "Unknown" "" "" "0" "" "" "g.117837146G>A" "" "likely pathogenic" "" "0000194810" "0" "79" "8" "118849385" "118849385" "subst" "0" "02212" "EXT1_000469" "g.118849385G>A" "" "Pedrini, not yet published" "" "" "This variant is reported as pathogenic by Uniprot." "Unknown" "" "" "0" "" "" "g.117837146G>A" "" "likely pathogenic" "" "0000194811" "0" "77" "8" "118849385" "118849385" "subst" "0" "02213" "EXT1_000556" "g.118849385G>A" "" "Casey, not yet published" "" "" "This variant is reported as pathogenic by Uniprot." "Unknown" "" "" "0" "" "" "g.117837146G>A" "" "likely pathogenic" "" "0000194812" "0" "77" "8" "118849385" "118849385" "subst" "0" "02213" "EXT1_000557" "g.118849385G>A" "" "Casey, not yet published" "" "" "This variant is reported as pathogenic by Uniprot." "Unknown" "" "" "0" "" "" "g.117837146G>A" "" "likely pathogenic" "" "0000194813" "0" "77" "8" "118849385" "118849385" "subst" "0" "02213" "EXT1_000558" "g.118849385G>A" "" "Casey, not yet published" "" "" "This variant is reported as pathogenic by Uniprot." "Unknown" "" "" "0" "" "" "g.117837146G>A" "" "likely pathogenic" "" "0000194814" "0" "79" "8" "118849385" "118849385" "subst" "0" "02210" "EXT1_000583" "g.118849385G>A" "" "{PMID17589361:Alvarez, 2007}" "" "" "This variant is reported as pathogenic by Uniprot." "Germline" "" "" "0" "" "" "g.117837146G>A" "" "likely pathogenic" "" "0000194815" "0" "79" "8" "118849384" "118849384" "subst" "0.00000406663" "02210" "EXT1_000175" "g.118849384C>T" "" "{PMID9521425:Raskind, 1998}" "" "1670G>A" "This variant is reported as pathogenic by Uniprot. This Frameshift is located in a polypyrimidine tract. Amino acid 340 seems to be essential for the proper functioning of the protein." "De novo" "" "" "0" "" "" "g.117837145C>T" "" "likely pathogenic" "" "0000194816" "0" "79" "8" "118849384" "118849384" "subst" "0.00000406663" "02210" "EXT1_000176" "g.118849384C>T" "" "{PMID9521425:Raskind, 1998}" "" "1670G>A" "This variant is reported as pathogenic by Uniprot. This Frameshift is located in a polypyrimidine tract. Amino acid 340 seems to be essential for the proper functioning of the protein." "De novo" "" "" "0" "" "" "g.117837145C>T" "" "likely pathogenic" "" "0000194817" "0" "79" "8" "118849384" "118849384" "subst" "0.00000406663" "02210" "EXT1_000177" "g.118849384C>T" "" "{PMID:Dobson-Stone 2000:10713884}" "" "" "This variant is reported as pathogenic by Uniprot." "Unknown" "" "" "0" "" "" "g.117837145C>T" "" "likely pathogenic" "" "0000194818" "0" "79" "8" "118849384" "118849384" "subst" "0.00000406663" "02210" "EXT1_000178" "g.118849384C>T" "" "{PMID11170095:Seki, 2001}" "" "" "This variant is reported as pathogenic by Uniprot." "Germline" "" "" "0" "" "" "g.117837145C>T" "" "likely pathogenic" "" "0000194819" "0" "79" "8" "118849384" "118849384" "subst" "0.00000406663" "02210" "EXT1_000179" "g.118849384C>T" "" "{PMID16088908:Pedrini, 2005}" "" "" "This variant is reported as pathogenic by Uniprot." "Germline" "" "" "0" "" "" "g.117837145C>T" "" "likely pathogenic" "" "0000194820" "0" "79" "8" "118849384" "118849384" "subst" "0.00000406663" "02210" "EXT1_000180" "g.118849384C>T" "" "{PMID15586175:Vink, 2004}" "" "" "This variant is reported as pathogenic by Uniprot." "Unknown" "" "" "0" "" "" "g.117837145C>T" "" "likely pathogenic" "" "0000194821" "0" "79" "8" "118849384" "118849384" "subst" "0.00000406663" "02210" "EXT1_000181" "g.118849384C>T" "" "{PMID17041877:Lonie, 2006}" "" "" "This variant is reported as pathogenic by Uniprot." "Unknown" "" "" "0" "" "" "g.117837145C>T" "" "likely pathogenic" "" "0000194822" "0" "79" "8" "118849384" "118849384" "subst" "0.00000406663" "02210" "EXT1_000182" "g.118849384C>T" "" "{PMID17301954:Signori, 2007}" "" "" "This variant is reported as pathogenic by Uniprot." "Unknown" "" "" "0" "" "" "g.117837145C>T" "" "likely pathogenic" "" "0000194823" "0" "79" "8" "118849384" "118849384" "subst" "0.00000406663" "02210" "EXT1_000183" "g.118849384C>T" "" "Jennes, not yet published" "" "" "This variant is reported as pathogenic by Uniprot." "Germline" "" "" "0" "" "" "g.117837145C>T" "" "likely pathogenic" "" "0000194824" "0" "79" "8" "118849384" "118849384" "subst" "0.00000406663" "02210" "EXT1_000184" "g.118849384C>T" "" "Jennes, not yet published" "" "" "This variant is reported as pathogenic by Uniprot." "Germline" "" "" "0" "" "" "g.117837145C>T" "" "likely pathogenic" "" "0000194825" "0" "79" "8" "118849384" "118849384" "subst" "0.00000406663" "02212" "EXT1_000470" "g.118849384C>T" "" "Pedrini, not yet published" "" "" "This variant is reported as pathogenic by Uniprot." "Germline" "" "" "0" "" "" "g.117837145C>T" "" "likely pathogenic" "" "0000194826" "0" "79" "8" "118849384" "118849384" "subst" "0.00000406663" "02212" "EXT1_000471" "g.118849384C>T" "" "Pedrini, not yet published" "" "" "This variant is reported as pathogenic by Uniprot." "Unknown" "" "" "0" "" "" "g.117837145C>T" "" "likely pathogenic" "" "0000194827" "0" "79" "8" "118849384" "118849384" "subst" "0.00000406663" "02212" "EXT1_000472" "g.118849384C>T" "" "Pedrini, not yet published" "" "" "This variant is reported as pathogenic by Uniprot." "Unknown" "" "" "0" "" "" "g.117837145C>T" "" "likely pathogenic" "" "0000194828" "0" "79" "8" "118849384" "118849384" "subst" "0.00000406663" "02212" "EXT1_000473" "g.118849384C>T" "" "Pedrini, not yet published" "" "" "This variant is reported as pathogenic by Uniprot." "Germline" "" "" "0" "" "" "g.117837145C>T" "" "likely pathogenic" "" "0000194829" "0" "79" "8" "118849384" "118849384" "subst" "0.00000406663" "02212" "EXT1_000474" "g.118849384C>T" "" "Pedrini, not yet published" "" "" "This variant is reported as pathogenic by Uniprot." "Unknown" "" "" "0" "" "" "g.117837145C>T" "" "likely pathogenic" "" "0000194830" "0" "79" "8" "118849384" "118849384" "subst" "0.00000406663" "02212" "EXT1_000475" "g.118849384C>T" "" "Pedrini, not yet published" "" "" "This variant is reported as pathogenic by Uniprot." "Unknown" "" "" "0" "" "" "g.117837145C>T" "" "likely pathogenic" "" "0000194831" "0" "79" "8" "118849384" "118849384" "subst" "0.00000406663" "02212" "EXT1_000476" "g.118849384C>T" "" "Pedrini, not yet published" "" "" "This variant is reported as pathogenic by Uniprot." "Unknown" "" "" "0" "" "" "g.117837145C>T" "" "likely pathogenic" "" "0000194832" "0" "79" "8" "118849384" "118849384" "subst" "0.00000406663" "02212" "EXT1_000477" "g.118849384C>T" "" "Pedrini, not yet published" "" "" "This variant is reported as pathogenic by Uniprot." "Germline" "" "" "0" "" "" "g.117837145C>T" "" "likely pathogenic" "" "0000194833" "0" "79" "8" "118849384" "118849384" "subst" "0.00000406663" "02212" "EXT1_000478" "g.118849384C>T" "" "{PMID16088908:Pedrini, 2005}" "" "" "This variant is reported as pathogenic by Uniprot." "Germline" "" "" "0" "" "" "g.117837145C>T" "" "likely pathogenic" "" "0000194834" "0" "77" "8" "118849384" "118849384" "subst" "0.00000406663" "02213" "EXT1_000559" "g.118849384C>T" "" "Casey, not yet published" "" "" "This variant is reported as pathogenic by Uniprot. This Frameshift is located in a polypyrimidine tract. Amino acid 340 seems to be essential for the proper functioning of the protein." "Unknown" "" "" "0" "" "" "g.117837145C>T" "" "likely pathogenic" "" "0000194835" "0" "77" "8" "118849384" "118849384" "subst" "0.00000406663" "02213" "EXT1_000560" "g.118849384C>T" "" "Casey, not yet published" "" "" "This variant is reported as pathogenic by Uniprot. This Frameshift is located in a polypyrimidine tract. Amino acid 340 seems to be essential for the proper functioning of the protein." "Unknown" "" "" "0" "" "" "g.117837145C>T" "" "likely pathogenic" "" "0000194836" "0" "77" "8" "118849384" "118849384" "subst" "0.00000406663" "02213" "EXT1_000561" "g.118849384C>T" "" "Casey, not yet published" "" "" "This variant is reported as pathogenic by Uniprot. This Frameshift is located in a polypyrimidine tract. Amino acid 340 seems to be essential for the proper functioning of the protein." "Unknown" "" "" "0" "" "" "g.117837145C>T" "" "likely pathogenic" "" "0000194837" "0" "77" "8" "118849384" "118849384" "subst" "0.00000406663" "02213" "EXT1_000562" "g.118849384C>T" "" "Casey, not yet published" "" "" "This variant is reported as pathogenic by Uniprot. This Frameshift is located in a polypyrimidine tract. Amino acid 340 seems to be essential for the proper functioning of the protein." "Unknown" "" "" "0" "" "" "g.117837145C>T" "" "likely pathogenic" "" "0000194838" "0" "77" "8" "118849384" "118849384" "subst" "0.00000406663" "02213" "EXT1_000563" "g.118849384C>T" "" "Casey, not yet published" "" "" "This variant is reported as pathogenic by Uniprot. This Frameshift is located in a polypyrimidine tract. Amino acid 340 seems to be essential for the proper functioning of the protein." "Unknown" "" "" "0" "" "" "g.117837145C>T" "" "likely pathogenic" "" "0000194839" "0" "79" "8" "118849384" "118849384" "subst" "0.00000406663" "02210" "EXT1_000578" "g.118849384C>T" "" "{PMID16879194:Alvarez, 2006}" "" "" "This variant is reported as pathogenic by Uniprot." "Germline" "" "" "0" "" "" "g.117837145C>T" "" "likely pathogenic" "" "0000194840" "0" "79" "8" "118849384" "118849384" "subst" "0.00000406663" "02210" "EXT1_000582" "g.118849384C>T" "" "{PMID17589361:Alvarez, 2007}" "" "" "This variant is reported as pathogenic by Uniprot. This frameshift is located in a polypyrimidine tract. Amino acid 340 seems to be essential for the proper functioning of the protein." "Unknown" "" "" "0" "" "" "g.117837145C>T" "" "likely pathogenic" "" "0000194841" "0" "79" "8" "118849384" "118849384" "subst" "0.00000406663" "02210" "EXT1_000584" "g.118849384C>T" "" "{PMID17589361:Alvarez, 2007}" "" "" "This variant is reported as pathogenic by Uniprot. This frameshift is located in a polypyrimidine tract. Amino acid 340 seems to be essential for the proper functioning of the protein." "Germline" "" "" "0" "" "" "g.117837145C>T" "" "likely pathogenic" "" "0000194842" "0" "77" "8" "118849384" "118849384" "subst" "0.00000406663" "02215" "EXT1_000667" "g.118849384C>T" "" "Pedrini, not yet published" "" "1670G>A" "This variant is reported as pathogenic by Uniprot. This Frameshift is located in a polypyrimidine tract. Amino acid 340 seems to be essential for the proper functioning of the protein." "Germline" "" "" "0" "" "" "g.117837145C>T" "" "likely pathogenic" "" "0000194843" "0" "77" "8" "118849384" "118849384" "subst" "0" "02210" "EXT1_000197" "g.118849384C>G" "" "Jennes, not yet published" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to C. elegans, Moderate physicochemical difference between Arg & Pro (Grantham dist.: 103 [0-215]), This variation is in protein domain: Exostosin-like. This variant is reported as pathogenic by Uniprot." "Germline" "" "" "0" "" "" "g.117837145C>G" "" "likely pathogenic" "" "0000194844" "0" "77" "8" "118849384" "118849384" "subst" "0" "02212" "EXT1_000479" "g.118849384C>G" "" "Pedrini, not yet published" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to C. elegans, Moderate physicochemical difference between Arg & Pro (Grantham dist.: 103 [0-215]), This variation is in protein domain: Exostosin-like." "Unknown" "" "" "0" "" "" "g.117837145C>G" "" "likely pathogenic" "" "0000194845" "0" "79" "8" "118849384" "118849384" "subst" "0" "02210" "EXT1_000185" "g.118849384C>A" "" "{PMID8981950:Hecht, 1997}" "" "G1670T" "This variant is reported as pathogenic by Uniprot." "Germline" "" "" "0" "" "" "g.117837145C>A" "" "likely pathogenic" "" "0000194846" "0" "79" "8" "118849384" "118849384" "subst" "0" "02210" "EXT1_000186" "g.118849384C>A" "" "{PMID:Dobson-Stone 2000:10713884}" "" "" "This variant is reported as pathogenic by Uniprot." "Unknown" "" "" "0" "" "" "g.117837145C>A" "" "likely pathogenic" "" "0000194847" "0" "79" "8" "118849384" "118849384" "subst" "0" "02210" "EXT1_000187" "g.118849384C>A" "" "{PMID11170095:Seki, 2001}" "" "" "This variant is reported as pathogenic by Uniprot." "Germline" "" "" "0" "" "" "g.117837145C>A" "" "likely pathogenic" "" "0000194848" "0" "79" "8" "118849384" "118849384" "subst" "0" "02210" "EXT1_000188" "g.118849384C>A" "" "{PMID11170095:Seki, 2001}" "" "" "This variant is reported as pathogenic by Uniprot." "Unknown" "" "" "0" "" "" "g.117837145C>A" "" "likely pathogenic" "" "0000194849" "0" "79" "8" "118849384" "118849384" "subst" "0" "02210" "EXT1_000189" "g.118849384C>A" "" "{PMID11170095:Seki, 2001}" "" "" "This variant is reported as pathogenic by Uniprot." "Unknown" "" "" "0" "" "" "g.117837145C>A" "" "likely pathogenic" "" "0000194850" "0" "79" "8" "118849384" "118849384" "subst" "0" "02210" "EXT1_000190" "g.118849384C>A" "" "{PMID18330718:Sfar, 2009}" "" "" "This variant is reported as pathogenic by Uniprot." "Germline" "" "" "0" "" "" "g.117837145C>A" "" "likely pathogenic" "" "0000194851" "0" "79" "8" "118849384" "118849384" "subst" "0" "02210" "EXT1_000191" "g.118849384C>A" "" "{PMID18165274:Jennes, 2008}" "" "" "This variant is reported as pathogenic by Uniprot." "Germline" "" "" "0" "" "" "g.117837145C>A" "" "likely pathogenic" "" "0000194852" "0" "79" "8" "118849384" "118849384" "subst" "0" "02210" "EXT1_000192" "g.118849384C>A" "" "{PMID18165274:Jennes, 2008}" "" "" "This variant is reported as pathogenic by Uniprot." "Germline" "" "" "0" "" "" "g.117837145C>A" "" "likely pathogenic" "" "0000194853" "0" "79" "8" "118849384" "118849384" "subst" "0" "02210" "EXT1_000193" "g.118849384C>A" "" "{PMID18165274:Jennes, 2008}" "" "" "This variant is reported as pathogenic by Uniprot." "Germline" "" "" "0" "" "" "g.117837145C>A" "" "likely pathogenic" "" "0000194854" "0" "79" "8" "118849384" "118849384" "subst" "0" "02210" "EXT1_000194" "g.118849384C>A" "" "Jennes, not yet published" "" "" "This variant is reported as pathogenic by Uniprot." "Germline" "" "" "0" "" "" "g.117837145C>A" "" "likely pathogenic" "" "0000194855" "0" "79" "8" "118849384" "118849384" "subst" "0" "02210" "EXT1_000195" "g.118849384C>A" "" "Jennes, not yet published" "" "" "This variant is reported as pathogenic by Uniprot." "Germline" "" "" "0" "" "" "g.117837145C>A" "" "likely pathogenic" "" "0000194856" "0" "79" "8" "118849384" "118849384" "subst" "0" "02210" "EXT1_000196" "g.118849384C>A" "" "Jennes, not yet published" "" "" "This variant is reported as pathogenic by Uniprot." "Germline" "" "" "0" "" "" "g.117837145C>A" "" "likely pathogenic" "" "0000194857" "0" "79" "8" "118849384" "118849384" "subst" "0" "02152" "EXT1_000409" "g.118849384C>A" "" "Bakker, not yet published" "" "" "This variant is reported as pathogenic by Uniprot." "Unknown" "" "" "0" "" "" "g.117837145C>A" "" "likely pathogenic" "" "0000194858" "0" "79" "8" "118849384" "118849384" "subst" "0" "02152" "EXT1_000410" "g.118849384C>A" "" "Bakker, not yet published" "" "" "This variant is reported as pathogenic by Uniprot." "Unknown" "" "" "0" "" "" "g.117837145C>A" "" "likely pathogenic" "" "0000194859" "0" "79" "8" "118849384" "118849384" "subst" "0" "02152" "EXT1_000411" "g.118849384C>A" "" "Bakker, not yet published" "" "" "This variant is reported as pathogenic by Uniprot." "Unknown" "" "" "0" "" "" "g.117837145C>A" "" "likely pathogenic" "" "0000194860" "0" "79" "8" "118849384" "118849384" "subst" "0" "02152" "EXT1_000412" "g.118849384C>A" "" "Bakker, not yet published" "" "" "This variant is reported as pathogenic by Uniprot." "Unknown" "" "" "0" "" "" "g.117837145C>A" "" "likely pathogenic" "" "0000194861" "0" "79" "8" "118849384" "118849384" "subst" "0" "02212" "EXT1_000480" "g.118849384C>A" "" "Pedrini, not yet published" "" "" "This variant is reported as pathogenic by Uniprot." "Unknown" "" "" "0" "" "" "g.117837145C>A" "" "likely pathogenic" "" "0000194862" "0" "79" "8" "118849384" "118849384" "subst" "0" "02212" "EXT1_000481" "g.118849384C>A" "" "Pedrini, not yet published" "" "" "This variant is reported as pathogenic by Uniprot." "Germline" "" "" "0" "" "" "g.117837145C>A" "" "likely pathogenic" "" "0000194863" "0" "79" "8" "118849384" "118849384" "subst" "0" "02212" "EXT1_000482" "g.118849384C>A" "" "Pedrini, not yet published" "" "" "This variant is reported as pathogenic by Uniprot." "Germline" "" "" "0" "" "" "g.117837145C>A" "" "likely pathogenic" "" "0000194864" "0" "77" "8" "118849384" "118849384" "subst" "0" "02215" "EXT1_000709" "g.118849384C>A" "" "Pedrini, not yet published" "" "G1670T" "This variant is reported as pathogenic by Uniprot." "Unknown" "" "" "0" "" "" "g.117837145C>A" "" "likely pathogenic" "" "0000194865" "0" "77" "8" "118849382" "118849382" "subst" "0" "02213" "EXT1_000564" "g.118849382T>C" "" "Casey, not yet published" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to C. elegans, Moderate physicochemical difference between Arg & Gly (Grantham dist.: 125 [0-215]), This variation is in protein domain: Exostosin-like." "Unknown" "" "" "0" "" "" "g.117837143T>C" "" "likely pathogenic" "" "0000194866" "0" "77" "8" "118849382" "118849382" "del" "0" "02210" "EXT1_000198" "g.118849382del" "" "{PMID17041877:Lonie, 2006}" "" "1021delA" "" "Unknown" "" "" "0" "" "" "g.117837143del" "" "likely pathogenic" "" "0000194867" "0" "77" "8" "118849376" "118849376" "subst" "0" "02152" "EXT1_000414" "g.118849376C>T" "" "Bakker, not yet published" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to C. elegans, Moderate physicochemical difference between Gly & Arg (Grantham dist.: 125 [0-215]), This variation is in protein domain: Exostosin-like." "Unknown" "" "" "0" "" "" "g.117837137C>T" "" "likely pathogenic" "" "0000194868" "0" "77" "8" "118849376" "118849376" "subst" "0" "02212" "EXT1_000483" "g.118849376C>T" "" "Pedrini, not yet published" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to C. elegans, Moderate physicochemical difference between Gly & Arg (Grantham dist.: 125 [0-215]), This variation is in protein domain: Exostosin-like." "Unknown" "" "" "0" "" "" "g.117837137C>T" "" "likely pathogenic" "" "0000194869" "0" "77" "8" "118849376" "118849376" "subst" "0" "02210" "EXT1_000199" "g.118849376C>A" "" "{PMID15586175:Vink, 2004}" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to C. elegans, Large physicochemical difference between Gly & Trp (Grantham dist.: 184 [0-215]), This variation is in protein domain: Exostosin-like." "Germline" "" "" "0" "" "" "g.117837137C>A" "" "likely pathogenic" "" "0000194870" "0" "77" "8" "118849376" "118849376" "subst" "0" "02152" "EXT1_000413" "g.118849376C>A" "" "Bakker, not yet published" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to C. elegans, Large physicochemical difference between Gly & Trp (Grantham dist.: 184 [0-215]), This variation is in protein domain: Exostosin-like." "Unknown" "" "" "0" "" "" "g.117837137C>A" "" "likely pathogenic" "" "0000194871" "0" "79" "8" "118849346" "118849369" "del" "0" "02210" "EXT1_000201" "g.118849346_118849369del" "" "{PMID11170095:Seki, 2001}" "" "1035_1056+2del24" "" "Unknown" "" "" "0" "" "" "g.117837107_117837130del" "" "likely pathogenic" "" "0000194872" "0" "77" "8" "118849367" "118849367" "subst" "0" "02210" "EXT1_000200" "g.118849367T>C" "" "{PMID17301954:Signori, 2007}" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to C. elegans, Moderate physicochemical difference between Arg & Gly (Grantham dist.: 125 [0-215]), This variation is in protein domain: Exostosin-like." "Unknown" "" "" "0" "" "" "g.117837128T>C" "" "likely pathogenic" "" "0000194873" "0" "77" "8" "118849367" "118849367" "subst" "0" "02152" "EXT1_000415" "g.118849367T>C" "" "Bakker, not yet published" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to C. elegans, Moderate physicochemical difference between Arg & Gly (Grantham dist.: 125 [0-215]), This variation is in protein domain: Exostosin-like." "Unknown" "" "" "0" "" "" "g.117837128T>C" "" "likely pathogenic" "" "0000194874" "0" "77" "8" "118849367" "118849367" "subst" "0" "02215" "EXT1_000624" "g.118849367T>C" "" "Pedrini, not yet published" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to C. elegans, Moderate physicochemical difference between Arg & Gly (Grantham dist.: 125 [0-215]), This variation is in protein domain: Exostosin-like." "Unknown" "" "" "0" "" "" "g.117837128T>C" "" "likely pathogenic" "" "0000194875" "0" "77" "8" "118849367" "118849367" "subst" "0" "02215" "EXT1_000653" "g.118849367T>C" "" "Pedrini, not yet published" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to C. elegans, Moderate physicochemical difference between Arg & Gly (Grantham dist.: 125 [0-215]), This variation is in protein domain: Exostosin-like." "Germline" "" "" "0" "" "" "g.117837128T>C" "" "likely pathogenic" "" "0000194876" "0" "77" "8" "118849367" "118849367" "subst" "0" "02210" "EXT1_000647" "g.118849367T>A" "" "Jennes, not yet published" "" "" "" "Unknown" "" "" "0" "" "" "g.117837128T>A" "" "likely pathogenic" "" "0000194877" "0" "77" "8" "118849366" "118849366" "subst" "0" "02214" "EXT1_000588" "g.118849366C>G" "" "Asteggiano, not yet published" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to C. elegans, Moderate physicochemical difference between Arg & Thr (Grantham dist.: 71 [0-215]), This variation is in protein domain: Exostosin-like." "Unknown" "" "" "0" "" "" "g.117837127C>G" "" "likely pathogenic" "" "0000194878" "0" "77" "8" "118849366" "118849366" "subst" "0" "02210" "EXT1_000592" "g.118849366C>A" "" "Jennes, not yet published" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to C. elegans, Moderate physicochemical difference between Arg & Ile (Grantham dist.: 97 [0-215]), This variation is in protein domain: Exostosin-like." "Unknown" "" "" "0" "" "" "g.117837127C>A" "" "likely pathogenic" "" "0000194879" "0" "77" "8" "118849365" "118849365" "subst" "0" "02212" "EXT1_000484" "g.118849365T>A" "" "Pedrini, not yet published" "" "" "Pathogenicity clues:Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to C. elegans, Moderate physicochemical difference between Arg & Ser (Grantham dist.: 110 [0-215]), This variation is in protein domain: Exostosin-like." "Unknown" "" "" "0" "" "" "g.117837126T>A" "" "likely pathogenic" "" "0000194880" "0" "77" "8" "118849365" "118849365" "subst" "0" "02215" "EXT1_000668" "g.118849365T>A" "" "Pedrini, not yet published" "" "" "Pathogenicity clues:Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to C. elegans, Moderate physicochemical difference between Arg & Ser (Grantham dist.: 110 [0-215]), This variation is in protein domain: Exostosin-like." "Unknown" "" "" "0" "" "" "g.117837126T>A" "" "likely pathogenic" "" "0000194881" "0" "77" "8" "118849349" "118849349" "subst" "0" "02212" "EXT1_000485" "g.118849349G>A" "" "Pedrini, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.117837110G>A" "" "likely pathogenic" "" "0000194882" "0" "77" "8" "118849346" "118849346" "subst" "0" "02210" "EXT1_000202" "g.118849346C>T" "" "{PMID9150727:Wells, 1997}" "" "" "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.117837107C>T" "" "likely pathogenic" "" "0000194883" "0" "77" "8" "118849346" "118849346" "subst" "0" "02210" "EXT1_000203" "g.118849346C>T" "" "{PMID15586175:Vink, 2004}" "" "" "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.117837107C>T" "" "likely pathogenic" "" "0000194884" "0" "77" "8" "118849346" "118849346" "subst" "0" "02210" "EXT1_000204" "g.118849346C>T" "" "{PMID17041877:Lonie, 2006}" "" "" "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.117837107C>T" "" "likely pathogenic" "" "0000194885" "0" "77" "8" "118849346" "118849346" "subst" "0" "02210" "EXT1_000205" "g.118849346C>T" "" "{PMID17301954:Signori, 2007}" "" "" "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.117837107C>T" "" "likely pathogenic" "" "0000194886" "0" "77" "8" "118849346" "118849346" "subst" "0" "02210" "EXT1_000206" "g.118849346C>T" "" "{PMID18165274:Jennes, 2008}" "" "" "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.117837107C>T" "" "likely pathogenic" "" "0000194887" "0" "77" "8" "118849346" "118849346" "subst" "0" "02210" "EXT1_000207" "g.118849346C>T" "" "Jennes, not yet published" "" "" "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.117837107C>T" "" "likely pathogenic" "" "0000194888" "0" "77" "8" "118849345" "118849345" "dup" "0" "02210" "EXT1_000208" "g.118849345dup" "" "{PMID17301954:Signori, 2007}" "" "1056+2insT" "This duplication 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.117837106dup" "" "likely pathogenic" "" "0000194889" "0" "77" "8" "118849345" "118849345" "dup" "0" "02210" "EXT1_000642" "g.118849345dup" "" "Jennes, not yet published" "" "c.1056+2dupT" "This duplication 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.117837106dup" "" "likely pathogenic" "" "0000194890" "0" "55" "8" "118849344" "118849344" "subst" "0" "02212" "EXT1_000486" "g.118849344T>G" "" "Pedrini, not yet published" "" "c.156(+3)A>C" "The consequence of this change is not predictable." "Unknown" "" "" "0" "" "" "g.117837105T>G" "" "VUS" "" "0000194891" "0" "55" "8" "118847793" "118847793" "subst" "0" "02212" "EXT1_000487" "g.118847793G>C" "" "Pedrini, not yet published" "" "c.1057(-3)C>G" "The consequence of this change is not predictable." "Germline" "" "" "0" "" "" "g.117835554G>C" "" "VUS" "" "0000194892" "0" "55" "8" "118847792" "118847792" "subst" "0" "02210" "EXT1_000596" "g.118847792T>C" "" "Jennes, not yet published" "" "" "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.117835553T>C" "" "VUS" "" "0000194893" "0" "55" "8" "118847792" "118847792" "subst" "0" "02210" "EXT1_000661" "g.118847792T>C" "" "Jennes, not yet published" "" "" "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.117835553T>C" "" "VUS" "" "0000194894" "0" "55" "8" "118847792" "118847792" "subst" "0" "02210" "EXT1_000606" "g.118847792T>A" "" "Jennes, not yet published" "" "" "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.117835553T>A" "" "VUS" "" "0000194895" "0" "77" "8" "118847784" "118847784" "subst" "0" "02210" "EXT1_000209" "g.118847784A>G" "" "{PMID17301954:Signori, 2007}" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to C. elegans, Large physicochemical difference between Cys & Arg (Grantham dist.: 180 [0-215]), This variation is in protein domain: Exostosin-like." "Unknown" "" "" "0" "" "" "g.117835545A>G" "" "likely pathogenic" "" "0000194896" "0" "11" "8" "118847782" "118847782" "subst" "0.264416" "02210" "EXT1_000210" "g.118847782G>A" "0,39" "{PMID:Dobson-Stone 2000:10713884}" "" "" "SNP rs11546829 G/A: Synonymous substitution. Codon TGC (freq: 0.552) changed to TGT (freq: 0.448), This variation does not alter the protein sequence." "Unknown" "" "rs11546829" "0" "" "" "g.117835543G>A" "" "benign" "" "0000194897" "0" "11" "8" "118847781" "118847781" "subst" "0.000231877" "02210" "EXT1_000211" "g.118847781C>T" "" "{PMID:Dobson-Stone 2000:10713884}" "" "" "SNP rs61753260 C/T: Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to C. elegans, Small physicochemical difference between Val & Ile (Grantham dist.: 29 [0-215]), This variation is in protein domain: Exostosin-like." "Unknown" "" "rs61753260" "0" "" "" "g.117835542C>T" "" "benign" "" "0000194898" "0" "77" "8" "118847771" "118847781" "del" "0" "02212" "EXT1_000488" "g.118847771_118847781del" "" "Pedrini, not yet published" "" "c.1067_1077del(10nt)" "" "Germline" "" "" "0" "" "" "g.117835532_117835542del" "" "likely pathogenic" "" "0000194899" "0" "77" "8" "118847779" "118847779" "del" "0" "02215" "EXT1_000657" "g.118847779del" "" "Pedrini, not yet published" "" "" "" "Unknown" "" "" "0" "" "" "g.117835540del" "" "likely pathogenic" "" "0000194900" "0" "77" "8" "118847755" "118847755" "subst" "0" "02210" "EXT1_000212" "g.118847755C>T" "" "Jennes, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.117835516C>T" "" "likely pathogenic" "" "0000194901" "0" "77" "8" "118847755" "118847755" "subst" "0" "02210" "EXT1_000645" "g.118847755C>T" "" "Jennes, not yet published" "" "" "" "Unknown" "" "" "0" "" "" "g.117835516C>T" "" "likely pathogenic" "" "0000194902" "0" "77" "8" "118847756" "118847756" "del" "0" "02210" "EXT1_000213" "g.118847756del" "" "{PMID9521425:Raskind, 1998}" "" "1742GGG>GG" "" "De novo" "" "" "0" "" "" "g.117835517del" "" "likely pathogenic" "" "0000194903" "0" "77" "8" "118847751" "118847751" "del" "0" "02212" "EXT1_000489" "g.118847751del" "" "Pedrini, not yet published" "" "c.1097delT" "" "Unknown" "" "" "0" "" "" "g.117835512del" "" "likely pathogenic" "" "0000194904" "0" "77" "8" "118847746" "118847746" "dup" "0" "02210" "EXT1_000214" "g.118847746dup" "" "{PMID18810975:Foroughmand, 2008}" "" "1100-1101insA" "" "Germline" "" "" "0" "" "" "g.117835507dup" "" "likely pathogenic" "" "0000194905" "0" "77" "8" "118847739" "118847739" "subst" "0" "02152" "EXT1_000416" "g.118847739C>G" "" "Bakker, not yet published" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to C. elegans, Small physicochemical difference between Glu & Gln (Grantham dist.: 29 [0-215]), This variation is in protein domain: Exostosin-like." "Unknown" "" "" "0" "" "" "g.117835500C>G" "" "likely pathogenic" "" "0000194906" "0" "77" "8" "118847730" "118847730" "subst" "0.000841696" "02152" "EXT1_000417" "g.118847730T>C" "" "Bakker, not yet published" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Moderately conserved amino acid, Small physicochemical difference between Asn & Asp (Grantham dist.: 23 [0-215]), This variation is in protein domain: Exostosin-like." "Unknown" "" "" "0" "" "" "g.117835491T>C" "" "likely pathogenic" "" "0000194907" "0" "77" "8" "118843573" "118847729" "delins" "0" "02210" "EXT1_000678" "g.118843573_118847729delinsG" "" "Jennes, not yet published" "" "c.118.912.754-118.169.910delinsC" "" "Unknown" "" "" "0" "" "" "g.117831334_117835490delinsG" "" "likely pathogenic" "" "0000194908" "0" "77" "8" "118847726" "118847726" "subst" "0" "02152" "EXT1_000418" "g.118847726C>T" "" "Bakker, not yet published" "" "" "" "Unknown" "" "" "0" "" "" "g.117835487C>T" "" "likely pathogenic" "" "0000194909" "0" "77" "8" "118847725" "118847725" "subst" "0" "02210" "EXT1_000215" "g.118847725C>T" "" "{PMID9326317:Philippe, 1997}" "" "(Protein: W374X, TGG>TGA)" "" "Germline" "" "" "0" "" "" "g.117835486C>T" "" "likely pathogenic" "" "0000194910" "0" "77" "8" "118847725" "118847725" "subst" "0" "02212" "EXT1_000491" "g.118847725C>T" "" "Pedrini, not yet published" "" "c.1128G>A" "" "Germline" "" "" "0" "" "" "g.117835486C>T" "" "likely pathogenic" "" "0000194911" "0" "77" "8" "118847721" "118847721" "subst" "0" "02212" "EXT1_000490" "g.118847721G>A" "" "Pedrini, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.117835482G>A" "" "likely pathogenic" "" "0000194912" "0" "77" "8" "118847695" "118847695" "del" "0" "02152" "EXT1_000419" "g.118847695del" "" "Bakker, not yet published" "" "" "" "Unknown" "" "" "0" "" "" "g.117835456del" "" "likely pathogenic" "" "0000194913" "0" "77" "8" "118847695" "118847695" "del" "0" "02210" "EXT1_000649" "g.118847695del" "" "Jennes, not yet published" "" "112delG" "" "Unknown" "" "" "0" "" "" "g.117835456del" "" "likely pathogenic" "" "0000194914" "0" "77" "8" "118847690" "118847690" "subst" "0" "02210" "EXT1_000216" "g.118847690A>C" "" "{PMID11170095:Seki, 2001}" "" "" "" "Germline" "" "" "0" "" "" "g.117835451A>C" "" "likely pathogenic" "" "0000194915" "0" "77" "8" "118847687" "118847687" "subst" "0" "02210" "EXT1_000217" "g.118847687A>T" "" "{PMID15586175:Vink, 2004}" "" "" "" "Germline" "" "" "0" "" "" "g.117835448A>T" "" "likely pathogenic" "" "0000194916" "0" "77" "8" "118847685" "118847685" "subst" "0" "02210" "EXT1_000218" "g.118847685G>A" "" "{PMID17041877:Lonie, 2006}" "" "" "" "Unknown" "" "" "0" "" "" "g.117835446G>A" "" "likely pathogenic" "" "0000194917" "0" "77" "8" "118847685" "118847685" "subst" "0" "02210" "EXT1_000219" "g.118847685G>A" "" "Jennes, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.117835446G>A" "" "likely pathogenic" "" "0000194918" "0" "77" "8" "118847685" "118847685" "subst" "0" "02212" "EXT1_000492" "g.118847685G>A" "" "Pedrini, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.117835446G>A" "" "likely pathogenic" "" "0000194919" "0" "77" "8" "118847685" "118847685" "subst" "0" "02215" "EXT1_000637" "g.118847685G>A" "" "Pedrini, not yet published" "" "" "" "Unknown" "" "" "0" "" "" "g.117835446G>A" "" "likely pathogenic" "" "0000194920" "0" "77" "8" "118847683" "118847684" "del" "0" "02212" "EXT1_000493" "g.118847683_118847684del" "" "Pedrini, not yet published" "" "c.1163_1164del(AG)" "" "Unknown" "" "" "0" "" "" "g.117835444_117835445del" "" "likely pathogenic" "" "0000194921" "0" "77" "8" "118847683" "118847683" "dup" "0" "02210" "EXT1_000220" "g.118847683dup" "" "Jennes, not yet published" "" "c.1164+1dupG" "This duplication 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.117835444dup" "" "likely pathogenic" "" "0000194922" "0" "77" "8" "118847682" "118847682" "subst" "0" "02212" "EXT1_000494" "g.118847682C>G" "" "Pedrini, not yet published" "" "c.1164(+1)G>C" "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.117835443C>G" "" "likely pathogenic" "" "0000194923" "0" "77" "8" "118847682" "118847682" "subst" "0" "02212" "EXT1_000495" "g.118847682C>A" "" "Pedrini, not yet published" "" "c.1164(+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." "Unknown" "" "" "0" "" "" "g.117835443C>A" "" "likely pathogenic" "" "0000194924" "0" "77" "8" "118842587" "118842588" "ins" "0" "02210" "EXT1_000221" "g.118842587_118842588insC" "" "Jennes, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.117830348_117830349insC" "" "likely pathogenic" "" "0000194925" "0" "77" "8" "118842587" "118842587" "del" "0" "02210" "EXT1_000222" "g.118842587del" "" "Jennes, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.117830348del" "" "likely pathogenic" "" "0000194926" "0" "77" "8" "118842583" "118842583" "del" "0" "02210" "EXT1_000223" "g.118842583del" "" "{PMID17301954:Signori, 2007}" "" "1171delT" "" "Unknown" "" "" "0" "" "" "g.117830344del" "" "likely pathogenic" "" "0000194927" "0" "77" "8" "118842574" "118842575" "dup" "0" "02210" "EXT1_000681" "g.118842574_118842575dup" "" "Jennes, not yet published" "" "c.1178_1179dupTC" "" "Unknown" "" "" "0" "" "" "g.117830335_117830336dup" "" "likely pathogenic" "" "0000194928" "0" "77" "8" "118842561" "118842561" "subst" "0" "02210" "EXT1_000224" "g.118842561G>A" "" "{PMID17041877:Lonie, 2006}" "" "" "" "Unknown" "" "" "0" "" "" "g.117830322G>A" "" "likely pathogenic" "" "0000194929" "0" "77" "8" "118842554" "118842554" "subst" "0" "02210" "EXT1_000225" "g.118842554T>C" "" "{PMID12110435:Hecht, 2002}" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to Frog, Small physicochemical difference between Lys & Arg (Grantham dist.: 26 [0-215]), This variation is in protein domain: Exostosin-like." "Unknown" "" "" "0" "" "" "g.117830315T>C" "" "likely pathogenic" "" "0000194930" "0" "77" "8" "118842555" "118842555" "dup" "0" "02210" "EXT1_000226" "g.118842555dup" "" "{PMID11170095:Seki, 2001}" "" "1198_1199insA" "" "Germline" "" "" "0" "" "" "g.117830316dup" "" "likely pathogenic" "" "0000194931" "0" "77" "8" "118842540" "118842540" "subst" "0" "02210" "EXT1_000229" "g.118842540T>A" "" "{PMID:Dobson-Stone 2000:10713884}" "" "" "" "Unknown" "" "" "0" "" "" "g.117830301T>A" "" "likely pathogenic" "" "0000194932" "0" "77" "8" "118842540" "118842540" "subst" "0" "02210" "EXT1_000230" "g.118842540T>A" "" "{PMID16088908:Pedrini, 2005}" "" "" "" "Unknown" "" "" "0" "" "" "g.117830301T>A" "" "likely pathogenic" "" "0000194933" "0" "77" "8" "118842540" "118842540" "subst" "0" "02210" "EXT1_000231" "g.118842540T>A" "" "Jennes, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.117830301T>A" "" "likely pathogenic" "" "0000194934" "0" "77" "8" "118842540" "118842540" "dup" "0" "02210" "EXT1_000227" "g.118842540dup" "" "Jennes, not yet published" "" "1213dupA" "" "Germline" "" "" "0" "" "" "g.117830301dup" "" "likely pathogenic" "" "0000194935" "0" "77" "8" "118842537" "118842540" "del" "0" "02210" "EXT1_000228" "g.118842537_118842540del" "" "{PMID11668521:Gigante, 2001}" "" "1213_1216del4" "" "Germline" "" "" "0" "" "" "g.117830298_117830301del" "" "likely pathogenic" "" "0000194936" "0" "77" "8" "118842537" "118842540" "del" "0" "02215" "EXT1_000639" "g.118842537_118842540del" "" "Pedrini, not yet published" "" "1213_1216del4" "" "Unknown" "" "" "0" "" "" "g.117830298_117830301del" "" "likely pathogenic" "" "0000194937" "0" "77" "8" "118842537" "118842540" "del" "0" "02210" "EXT1_000232" "g.118842537_118842540del" "" "{PMID9521425:Raskind, 1998}" "" "1866del4" "" "Germline" "" "" "0" "" "" "g.117830298_117830301del" "" "likely pathogenic" "" "0000194938" "0" "77" "8" "118842537" "118842540" "del" "0" "02210" "EXT1_000233" "g.118842537_118842540del" "" "{PMID9521425:Raskind, 1998}" "" "1866del4" "" "Germline" "" "" "0" "" "" "g.117830298_117830301del" "" "likely pathogenic" "" "0000194939" "0" "77" "8" "118842537" "118842540" "del" "0" "02210" "EXT1_000234" "g.118842537_118842540del" "" "{PMID11170095:Seki, 2001}" "" "1215-1218del4" "" "Germline" "" "" "0" "" "" "g.117830298_117830301del" "" "likely pathogenic" "" "0000194940" "0" "77" "8" "118842537" "118842540" "del" "0" "02210" "EXT1_000235" "g.118842537_118842540del" "" "Jennes, not yet published" "" "1215-1218del4" "" "Germline" "" "" "0" "" "" "g.117830298_117830301del" "" "likely pathogenic" "" "0000194941" "0" "77" "8" "118842537" "118842540" "del" "0" "02152" "EXT1_000420" "g.118842537_118842540del" "" "Bakker, not yet published" "" "" "" "Unknown" "" "" "0" "" "" "g.117830298_117830301del" "" "likely pathogenic" "" "0000194942" "0" "77" "8" "118842537" "118842540" "del" "0" "02152" "EXT1_000421" "g.118842537_118842540del" "" "Bakker, not yet published" "" "" "" "Unknown" "" "" "0" "" "" "g.117830298_117830301del" "" "likely pathogenic" "" "0000194943" "0" "77" "8" "118842537" "118842540" "del" "0" "02212" "EXT1_000496" "g.118842537_118842540del" "" "Pedrini, not yet published" "" "c.1215_1218delACAG" "" "Unknown" "" "" "0" "" "" "g.117830298_117830301del" "" "likely pathogenic" "" "0000194944" "0" "77" "8" "118842537" "118842540" "del" "0" "02215" "EXT1_000704" "g.118842537_118842540del" "" "Pedrini, not yet published" "" "1866del4" "" "Unknown" "" "" "0" "" "" "g.117830298_117830301del" "" "likely pathogenic" "" "0000194945" "0" "77" "8" "118842537" "118842540" "del" "0" "02215" "EXT1_000705" "g.118842537_118842540del" "" "Pedrini, not yet published" "" "1866del4" "" "Unknown" "" "" "0" "" "" "g.117830298_117830301del" "" "likely pathogenic" "" "0000194946" "0" "77" "8" "118842537" "118842537" "subst" "0" "02210" "EXT1_000236" "g.118842537G>A" "" "{PMID17041877:Lonie, 2006}" "" "" "" "Unknown" "" "" "0" "" "" "g.117830298G>A" "" "likely pathogenic" "" "0000194947" "0" "77" "8" "118842537" "118842537" "subst" "0" "02210" "EXT1_000237" "g.118842537G>A" "" "Jennes, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.117830298G>A" "" "likely pathogenic" "" "0000194948" "0" "77" "8" "118842534" "118842534" "subst" "0" "02210" "EXT1_000238" "g.118842534G>A" "" "Jennes, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.117830295G>A" "" "likely pathogenic" "" "0000194949" "0" "77" "8" "118842534" "118842534" "subst" "0" "02210" "EXT1_000239" "g.118842534G>A" "" "Jennes, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.117830295G>A" "" "likely pathogenic" "" "0000194950" "0" "77" "8" "118842528" "118842528" "subst" "0" "02210" "EXT1_000240" "g.118842528G>A" "" "{PMID16088908:Pedrini, 2005}" "" "" "" "Germline" "" "" "0" "" "" "g.117830289G>A" "" "likely pathogenic" "" "0000194951" "0" "77" "8" "118842528" "118842528" "subst" "0" "02212" "EXT1_000497" "g.118842528G>A" "" "Pedrini, not yet published" "" "" "" "Unknown" "" "" "0" "" "" "g.117830289G>A" "" "likely pathogenic" "" "0000194952" "0" "77" "8" "118842530" "118842531" "del" "0" "02210" "EXT1_000241" "g.118842530_118842531del" "" "{PMID15586175:Vink, 2004}" "" "1225delCA" "" "Germline" "" "" "0" "" "" "g.117830291_117830292del" "" "likely pathogenic" "" "0000194953" "0" "77" "8" "118842518" "118842518" "subst" "0" "02210" "EXT1_000242" "g.118842518C>T" "" "Jennes, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.117830279C>T" "" "likely pathogenic" "" "0000194954" "0" "77" "8" "118842518" "118842518" "subst" "0" "02210" "EXT1_000243" "g.118842518C>T" "" "Jennes, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.117830279C>T" "" "likely pathogenic" "" "0000194955" "0" "77" "8" "118842518" "118842518" "del" "0" "02210" "EXT1_000244" "g.118842518del" "" "{PMID16088908:Pedrini, 2005}" "" "1237delG" "" "Unknown" "" "" "0" "" "" "g.117830279del" "" "likely pathogenic" "" "0000194956" "0" "79" "8" "118842516" "118842516" "subst" "0" "02172" "EXT1_000715" "g.118842516C>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.117830277C>A" "" "likely pathogenic" "" "0000194957" "0" "77" "8" "118842508" "118842508" "subst" "0" "02212" "EXT1_000498" "g.118842508A>C" "" "Pedrini, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.117830269A>C" "" "likely pathogenic" "" "0000194958" "0" "77" "8" "118842482" "118842482" "subst" "0" "02210" "EXT1_000245" "g.118842482A>C" "" "{PMID16088908:Pedrini, 2005}" "" "" "" "Germline" "" "" "0" "" "" "g.117830243A>C" "" "likely pathogenic" "" "0000194959" "0" "77" "8" "118842476" "118842477" "del" "0" "02210" "EXT1_000246" "g.118842476_118842477del" "" "{PMID17301954:Signori, 2007}" "" "1277-8del2" "" "Unknown" "" "" "0" "" "" "g.117830237_117830238del" "" "likely pathogenic" "" "0000194960" "0" "77" "8" "118842468" "118842468" "subst" "0" "02210" "EXT1_000247" "g.118842468C>A" "" "{PMID16088908:Pedrini, 2005}" "" "" "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.117830229C>A" "" "likely pathogenic" "" "0000194961" "0" "77" "8" "118842468" "118842468" "subst" "0" "02210" "EXT1_000248" "g.118842468C>A" "" "{PMID18165274:Jennes, 2008}" "" "" "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.117830229C>A" "" "likely pathogenic" "" "0000194962" "0" "77" "8" "118842468" "118842468" "subst" "0" "02212" "EXT1_000499" "g.118842468C>A" "" "Pedrini, not yet published" "" "c.1284(+1)G>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." "Unknown" "" "" "0" "" "" "g.117830229C>A" "" "likely pathogenic" "" "0000194963" "0" "77" "8" "118842467" "118842467" "subst" "0" "02210" "EXT1_000249" "g.118842467A>C" "" "{PMID17041877:Lonie, 2006}" "" "" "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." "Unknown" "" "" "0" "" "" "g.117830228A>C" "" "likely pathogenic" "" "0000194964" "0" "11" "8" "118842405" "118842405" "subst" "0" "02210" "EXT1_000250" "g.118842405G>T" "69" "{PMID:Dobson-Stone 2000:10713884}" "" "1284+64G>A" "SNP rs17503391 C>T = SNP rs17439812 C>T" "Unknown" "" "rs17439812" "0" "" "" "g.117830166G>T" "" "benign" "" "0000194965" "0" "77" "8" "118834838" "118834838" "subst" "0" "02210" "EXT1_000252" "g.118834838T>G" "" "{PMID:Dobson-Stone 2000:10713884}" "" "" "This substitution is located in the acceptor splice site of intron 4. The consequence of this change is not predictable, but a skip of exon 5 is very likely." "Unknown" "" "" "0" "" "" "g.117822599T>G" "" "likely pathogenic" "" "0000194966" "0" "77" "8" "118834836" "118834839" "del" "0" "02212" "EXT1_000502" "g.118834836_118834839del" "" "Pedrini, not yet published" "" "c.1285(-2)_1286del(AGAT)" "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.117822597_117822600del" "" "likely pathogenic" "" "0000194967" "0" "77" "8" "118834837" "118834837" "subst" "0" "02210" "EXT1_000251" "g.118834837C>G" "" "Jennes, not yet published" "" "" "This substitution is located in the acceptor splice site of intron 4. The consequence of this change is not predictable, but a skip of exon 5 is very likely." "Germline" "" "" "0" "" "" "g.117822598C>G" "" "likely pathogenic" "" "0000194968" "0" "77" "8" "118834837" "118834837" "subst" "0" "02212" "EXT1_000500" "g.118834837C>G" "" "Pedrini, not yet published" "" "c.1285(-1)G>C" "This substitution is located in the acceptor splice site of intron 4. The consequence of this change is not predictable, but a skip of exon 5 is very likely." "Germline" "" "" "0" "" "" "g.117822598C>G" "" "likely pathogenic" "" "0000194969" "0" "77" "8" "118834837" "118834837" "subst" "0" "02212" "EXT1_000501" "g.118834837C>G" "" "Pedrini, not yet published" "" "c.1285(-1)G>C" "This substitution is located in the acceptor splice site of intron 4. The consequence of this change is not predictable, but a skip of exon 5 is very likely." "Germline" "" "" "0" "" "" "g.117822598C>G" "" "likely pathogenic" "" "0000194970" "0" "77" "8" "118834837" "118834837" "subst" "0" "02215" "EXT1_000638" "g.118834837C>G" "" "Pedrini, not yet published" "" "" "This substitution is located in the acceptor splice site of intron 4. The consequence of this change is not predictable, but a skip of exon 5 is very likely." "Germline" "" "" "0" "" "" "g.117822598C>G" "" "likely pathogenic" "" "0000194971" "0" "77" "8" "118834830" "118834830" "subst" "0" "02212" "EXT1_000503" "g.118834830G>A" "" "Pedrini, not yet published" "" "" "" "Unknown" "" "" "0" "" "" "g.117822591G>A" "" "likely pathogenic" "" "0000194972" "0" "77" "8" "118834823" "118834824" "del" "0" "02212" "EXT1_000504" "g.118834823_118834824del" "" "Pedrini, not yet published" "" "c.1298_1299delGA" "" "Unknown" "" "" "0" "" "" "g.117822584_117822585del" "" "likely pathogenic" "" "0000194973" "0" "77" "8" "118834820" "118834820" "del" "0" "02213" "EXT1_000565" "g.118834820del" "" "Casey, not yet published" "" "1301delT" "" "Unknown" "" "" "0" "" "" "g.117822581del" "" "likely pathogenic" "" "0000194974" "0" "77" "8" "118834814" "118834814" "subst" "0" "02210" "EXT1_000253" "g.118834814T>A" "" "{PMID17301954:Signori, 2007}" "" "1308A>T" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to Frog, Moderate physicochemical difference Between Lys & Met (Grantham dist.: 95 [0-215])." "Unknown" "" "" "0" "" "" "g.117822575T>A" "" "likely pathogenic" "" "0000194975" "0" "77" "8" "118834808" "118834809" "del" "0" "02210" "EXT1_000594" "g.118834808_118834809del" "" "Jennes, not yet published" "" "c.1314_1315delAT" "" "Germline" "" "" "0" "" "" "g.117822569_117822570del" "" "likely pathogenic" "" "0000194976" "0" "77" "8" "118834801" "118834801" "dup" "0" "02210" "EXT1_000254" "g.118834801dup" "" "{PMID11668521:Gigante, 2001}" "" "1320insT" "" "Germline" "" "" "0" "" "" "g.117822562dup" "" "likely pathogenic" "" "0000194977" "0" "77" "8" "118834800" "118834800" "dup" "0" "02210" "EXT1_000255" "g.118834800dup" "" "Jennes, not yet published" "" "1320dupA" "" "Germline" "" "" "0" "" "" "g.117822561dup" "" "likely pathogenic" "" "0000194978" "0" "77" "8" "118834782" "118834789" "del" "0" "02210" "EXT1_000256" "g.118834782_118834789del" "" "{PMID17301954:Signori, 2007}" "" "1333-40del8" "" "Unknown" "" "" "0" "" "" "g.117822543_117822550del" "" "likely pathogenic" "" "0000194979" "0" "77" "8" "118834782" "118834789" "del" "0" "02212" "EXT1_000505" "g.118834782_118834789del" "" "Pedrini, not yet published" "" "c.1333_1340del(8nt)" "" "Germline" "" "" "0" "" "" "g.117822543_117822550del" "" "likely pathogenic" "" "0000194980" "0" "77" "8" "118834787" "118834787" "dup" "0" "02210" "EXT1_000257" "g.118834787dup" "" "{PMID11170095:Seki, 2001}" "" "1333_1334insG" "" "Unknown" "" "" "0" "" "" "g.117822548dup" "" "likely pathogenic" "" "0000194981" "0" "77" "8" "118834782" "118834782" "subst" "0" "02152" "EXT1_000422" "g.118834782T>A" "" "Bakker, not yet published" "" "" "" "Unknown" "" "" "0" "" "" "g.117822543T>A" "" "likely pathogenic" "" "0000194982" "0" "77" "8" "118834779" "118834779" "dup" "0" "02212" "EXT1_000506" "g.118834779dup" "" "Pedrini, not yet published" "" "c.1342_1343insC" "" "Germline" "" "" "0" "" "" "g.117822540dup" "" "likely pathogenic" "" "0000194983" "0" "77" "8" "118834761" "118834761" "subst" "0.0000366464" "02210" "EXT1_000258" "g.118834761C>T" "" "{PMID17301954:Signori, 2007}" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to Frog, Small physicochemical difference between Val & Ile (Grantham dist.: 29 [0-215])." "Unknown" "" "" "0" "" "" "g.117822522C>T" "" "likely pathogenic" "" "0000194984" "0" "77" "8" "118834760" "118834760" "dup" "0" "02152" "EXT1_000423" "g.118834760dup" "" "Bakker, not yet published" "" "" "" "Unknown" "" "" "0" "" "" "g.117822521dup" "" "likely pathogenic" "" "0000194985" "0" "77" "8" "118834759" "118834759" "dup" "0" "02210" "EXT1_000259" "g.118834759dup" "" "{PMID18165274:Jennes, 2008}" "" "1362dupA" "" "Germline" "" "" "0" "" "" "g.117822520dup" "" "likely pathogenic" "" "0000194986" "0" "77" "8" "118834755" "118834755" "del" "0" "02210" "EXT1_000260" "g.118834755del" "" "{PMID9521425:Raskind, 1998}" "" "2017CC>C" "" "Germline" "" "" "0" "" "" "g.117822516del" "" "likely pathogenic" "" "0000194987" "0" "77" "8" "118834753" "118834754" "del" "0" "02210" "EXT1_000261" "g.118834753_118834754del" "" "{PMID17301954:Signori, 2007}" "" "1369-70del2" "" "Unknown" "" "" "0" "" "" "g.117822514_117822515del" "" "likely pathogenic" "" "0000194988" "0" "77" "8" "118834749" "118834749" "del" "0" "02210" "EXT1_000262" "g.118834749del" "" "{PMID11432960:Francannet, 2001}" "" "1370delT" "" "Germline" "" "" "0" "" "" "g.117822510del" "" "likely pathogenic" "" "0000194989" "0" "77" "8" "118834747" "118834747" "subst" "0" "02210" "EXT1_000263" "g.118834747A>C" "" "{PMID18165274:Jennes, 2008}" "" "" "" "Germline" "" "" "0" "" "" "g.117822508A>C" "" "likely pathogenic" "" "0000194990" "0" "77" "8" "118834745" "118834745" "subst" "0" "02210" "EXT1_000264" "g.118834745G>C" "" "{PMID9463333:Wuyts, 1998}" "" "" "" "Germline" "" "" "0" "" "" "g.117822506G>C" "" "likely pathogenic" "" "0000194991" "0" "77" "8" "118834737" "118834737" "del" "0" "02210" "EXT1_000265" "g.118834737del" "" "{PMID:Dobson-Stone 2000:10713884}" "" "1384delC" "" "Unknown" "" "" "0" "" "" "g.117822498del" "" "likely pathogenic" "" "0000194992" "0" "77" "8" "118834729" "118834729" "del" "0" "02212" "EXT1_000507" "g.118834729del" "" "Pedrini, not yet published" "" "c.1395delT" "" "Unknown" "" "" "0" "" "" "g.117822490del" "" "likely pathogenic" "" "0000194993" "0" "77" "8" "118834724" "118834724" "subst" "0" "02212" "EXT1_000508" "g.118834724G>C" "" "Pedrini, not yet published" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to Fruitfly, Moderate physicochemical difference between Pro & Arg (Grantham dist.: 103 [0-215])." "Unknown" "" "" "0" "" "" "g.117822485G>C" "" "likely pathogenic" "" "0000194994" "0" "77" "8" "118834719" "118834719" "del" "0" "02210" "EXT1_000266" "g.118834719del" "" "Jennes, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.117822480del" "" "likely pathogenic" "" "0000194995" "0" "77" "8" "118834719" "118834719" "del" "0" "02210" "EXT1_000665" "g.118834719del" "" "Jennes, not yet published" "" "c.1402delT" "" "Unknown" "" "" "0" "" "" "g.117822480del" "" "likely pathogenic" "" "0000194996" "0" "77" "8" "118834717" "118834717" "subst" "0" "02210" "EXT1_000267" "g.118834717G>C" "" "{PMID12490068:Shi, 2002}" "" "" "" "Unknown" "" "" "0" "" "" "g.117822478G>C" "" "likely pathogenic" "" "0000194997" "0" "77" "8" "118834717" "118834717" "subst" "0" "02210" "EXT1_000620" "g.118834717G>C" "" "{PMID18976157:Kojima, 2008}" "" "" "" "Unknown" "" "" "0" "" "" "g.117822478G>C" "" "likely pathogenic" "" "0000194998" "0" "77" "8" "118832034" "118834713" "del" "0" "02210" "EXT1_000268" "g.118832034_118834713del" "" "{PMID10429361:Park, 1999}" "" "1409_1418del10" "Deletion (2680 bps) in exon 5. This deletion causes the loss of 277 residues and the insertion of Val." "Germline" "" "" "0" "" "" "g.117819795_117822474del" "" "likely pathogenic" "" "0000194999" "0" "77" "8" "118834711" "118834711" "del" "0" "02152" "EXT1_000424" "g.118834711del" "" "Bakker, not yet published" "" "" "" "Unknown" "" "" "0" "" "" "g.117822472del" "" "likely pathogenic" "" "0000195000" "0" "77" "8" "118834706" "118834706" "subst" "0" "02210" "EXT1_000269" "g.118834706A>T" "" "Jennes, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.117822467A>T" "" "likely pathogenic" "" "0000195001" "0" "77" "8" "118834704" "118834704" "subst" "0.00000408087" "02210" "EXT1_000270" "g.118834704C>T" "" "{PMID11432960:Francannet, 2001}" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to Fruitfly, Small physicochemical difference between Gly & Ser (Grantham dist.: 56 [0-215])." "Germline" "" "" "0" "" "" "g.117822465C>T" "" "likely pathogenic" "" "0000195002" "0" "77" "8" "118834703" "118834703" "subst" "0" "02210" "EXT1_000271" "g.118834703C>T" "" "{PMID9326317:Philippe, 1997}" "" "" "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.117822464C>T" "" "likely pathogenic" "" "0000195003" "0" "77" "8" "118834703" "118834703" "subst" "0" "02210" "EXT1_000272" "g.118834703C>T" "" "{PMID18165274:Jennes, 2008}" "" "" "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.117822464C>T" "" "likely pathogenic" "" "0000195004" "0" "77" "8" "118834703" "118834703" "subst" "0" "02212" "EXT1_000509" "g.118834703C>A" "" "Pedrini, not yet published" "" "c.1417(+1)G>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." "Germline" "" "" "0" "" "" "g.117822464C>A" "" "likely pathogenic" "" "0000195005" "0" "77" "8" "118834702" "118834702" "dup" "0" "02213" "EXT1_000566" "g.118834702dup" "" "Casey, not yet published" "" "1417+2insT" "This duplication 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.117822463dup" "" "likely pathogenic" "" "0000195006" "0" "77" "8" "118834702" "118834702" "dup" "0" "02210" "EXT1_000586" "g.118834702dup" "" "{PMID17589361:Alvarez, 2007}" "" "IVS5+2_3insT" "This duplication 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.117822463dup" "" "likely pathogenic" "" "0000195007" "0" "77" "8" "118834702" "118834702" "subst" "0" "02210" "EXT1_000274" "g.118834702A>C" "" "{PMID18373409: Leube, 2008}" "" "" "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.117822463A>C" "" "likely pathogenic" "" "0000195008" "0" "77" "8" "118834698" "118834703" "del" "0" "02210" "EXT1_000273" "g.118834698_118834703del" "" "{PMID9463333:Wuyts, 1998}" "" "2068+2del6" "This deletion alters the donor splice site of exon 5. The consequence of this change is not predictable, but a skip of exon 5 is very likely." "Germline" "" "" "0" "" "" "g.117822459_117822464del" "" "likely pathogenic" "" "0000195009" "0" "77" "8" "118832035" "118832035" "subst" "0" "02210" "EXT1_000276" "g.118832035T>C" "" "{PMID:Dobson-Stone 2000:10713884}" "" "" "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.117819796T>C" "" "likely pathogenic" "" "0000195010" "0" "77" "8" "118832035" "118832035" "subst" "0" "02210" "EXT1_000277" "g.118832035T>C" "" "Jennes, not yet published" "" "" "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.117819796T>C" "" "likely pathogenic" "" "0000195011" "0" "77" "8" "118832035" "118832035" "subst" "0" "02210" "EXT1_000686" "g.118832035T>C" "" "{PMID20618940:Baasanjav, 2010}" "" "" "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." "De novo" "" "" "0" "" "" "g.117819796T>C" "" "likely pathogenic" "" "0000195012" "0" "77" "8" "118832034" "118832034" "subst" "0" "02210" "EXT1_000275" "g.118832034C>T" "" "{PMID17041877:Lonie, 2006}" "" "" "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.117819795C>T" "" "likely pathogenic" "" "0000195013" "0" "77" "8" "118832030" "118832030" "subst" "0" "02210" "EXT1_000278" "g.118832030A>C" "" "Jennes, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.117819791A>C" "" "likely pathogenic" "" "0000195014" "0" "77" "8" "118832028" "118832028" "subst" "0" "02210" "EXT1_000279" "g.118832028T>A" "" "{PMID17041877:Lonie, 2006}" "" "" "" "Unknown" "" "" "0" "" "" "g.117819789T>A" "" "likely pathogenic" "" "0000195015" "0" "77" "8" "118832026" "118832026" "del" "0" "02212" "EXT1_000510" "g.118832026del" "" "Pedrini, not yet published" "" "c.1425delG" "" "Germline" "" "" "0" "" "" "g.117819787del" "" "likely pathogenic" "" "0000195016" "0" "77" "8" "118832020" "118832021" "ins" "0" "02212" "EXT1_000511" "g.118832020_118832021insA" "" "Pedrini, not yet published" "" "" "" "Unknown" "" "" "0" "" "" "g.117819781_117819782insA" "" "likely pathogenic" "" "0000195017" "0" "11" "8" "118832020" "118832020" "subst" "0.177832" "02210" "EXT1_000280" "g.118832020G>A" "0,25" "{PMID7550340:Ahn 1995}" "" "C2082T" "SNP rs17439693 G/A" "Unknown" "" "rs17439693" "0" "" "" "g.117819781G>A" "" "benign" "" "0000195018" "0" "77" "8" "118832025" "118832025" "del" "0" "02210" "EXT1_000281" "g.118832025del" "" "{PMID18165274:Jennes, 2008}" "" "1431delC" "" "Germline" "" "" "0" "" "" "g.117819786del" "" "likely pathogenic" "" "0000195019" "0" "79" "8" "118832025" "118832025" "dup" "0" "02210" "EXT1_000282" "g.118832025dup" "" "{PMID8981950:Hecht, 1997}" "" "2077-2082insC" "" "Unknown" "" "" "0" "" "" "g.117819786dup" "" "likely pathogenic" "" "0000195020" "0" "77" "8" "118832025" "118832025" "dup" "0" "02210" "EXT1_000283" "g.118832025dup" "" "{PMID17041877:Lonie, 2006}" "" "1430dupC" "" "Unknown" "" "" "0" "" "" "g.117819786dup" "" "likely pathogenic" "" "0000195021" "0" "77" "8" "118832025" "118832025" "dup" "0" "02210" "EXT1_000284" "g.118832025dup" "" "{PMID9521425:Raskind, 1998}" "" "2077ins1" "This frameshift is located in a polypyrimidine tract." "Germline" "" "" "0" "" "" "g.117819786dup" "" "likely pathogenic" "" "0000195022" "0" "77" "8" "118832025" "118832025" "dup" "0" "02210" "EXT1_000285" "g.118832025dup" "" "{PMID18373409: Leube, 2008}" "" "1431_32insC" "" "Germline" "" "" "0" "" "" "g.117819786dup" "" "likely pathogenic" "" "0000195023" "0" "77" "8" "118832025" "118832025" "dup" "0" "02212" "EXT1_000512" "g.118832025dup" "" "Pedrini, not yet published" "" "c.1431_1432insC" "" "Unknown" "" "" "0" "" "" "g.117819786dup" "" "likely pathogenic" "" "0000195024" "0" "77" "8" "118832025" "118832025" "dup" "0" "02212" "EXT1_000513" "g.118832025dup" "" "Pedrini, not yet published" "" "c.1431_1432insC" "" "Germline" "" "" "0" "" "" "g.117819786dup" "" "likely pathogenic" "" "0000195025" "0" "77" "8" "118832025" "118832025" "dup" "0" "02210" "EXT1_000630" "g.118832025dup" "" "Jennes, not yet published" "" "c.1431dupC" "" "Germline" "" "" "0" "" "" "g.117819786dup" "" "likely pathogenic" "" "0000195026" "0" "77" "8" "118832025" "118832025" "dup" "0" "02215" "EXT1_000655" "g.118832025dup" "" "Pedrini, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.117819786dup" "" "likely pathogenic" "" "0000195027" "0" "77" "8" "118832019" "118832019" "dup" "0" "02210" "EXT1_000286" "g.118832019dup" "" "{PMID11432960:Francannet, 2001}" "" "1431insT" "" "Germline" "" "" "0" "" "" "g.117819780dup" "" "likely pathogenic" "" "0000195028" "0" "77" "8" "118832019" "118832019" "dup" "0" "02210" "EXT1_000287" "g.118832019dup" "" "{PMID9150727:Wells, 1997}" "" "2082insT" "" "Germline" "" "" "0" "" "" "g.117819780dup" "" "likely pathogenic" "" "0000195029" "0" "77" "8" "118832019" "118832019" "dup" "0" "02212" "EXT1_000514" "g.118832019dup" "" "Pedrini, not yet published" "" "c.1431_1432insT" "" "Germline" "" "" "0" "" "" "g.117819780dup" "" "likely pathogenic" "" "0000195030" "0" "79" "8" "118831994" "118831994" "subst" "0.000231734" "02210" "EXT1_000288" "g.118831994G>A" "" "{PMID10480354:Xu, 1999}" "" "" "This variant is reported as pathogenic by Uniprot." "Germline" "" "" "0" "" "" "g.117819755G>A" "" "likely pathogenic" "" "0000195032" "0" "77" "8" "118831988" "118831988" "del" "0" "02210" "EXT1_000289" "g.118831988del" "" "{PMID:Dobson-Stone 2000:10713884}" "" "1463-1468delC" "" "Unknown" "" "" "0" "" "" "g.117819749del" "" "likely pathogenic" "" "0000195033" "0" "77" "8" "118831988" "118831988" "del" "0" "02210" "EXT1_000290" "g.118831988del" "" "{PMID17301954:Signori, 2007}" "" "1468delC" "" "Unknown" "" "" "0" "" "" "g.117819749del" "" "likely pathogenic" "" "0000195034" "0" "77" "8" "118831988" "118831988" "del" "0" "02210" "EXT1_000291" "g.118831988del" "" "Jennes, not yet published" "" "1468delC" "" "Germline" "" "" "0" "" "" "g.117819749del" "" "likely pathogenic" "" "0000195035" "0" "77" "8" "118831988" "118831988" "del" "0" "02212" "EXT1_000515" "g.118831988del" "" "Pedrini, not yet published" "" "c.1463delC" "" "Unknown" "" "" "0" "" "" "g.117819749del" "" "likely pathogenic" "" "0000195036" "0" "77" "8" "118831988" "118831988" "del" "0" "02212" "EXT1_000516" "g.118831988del" "" "Pedrini, not yet published" "" "c.1468delC" "" "Unknown" "" "" "0" "" "" "g.117819749del" "" "likely pathogenic" "" "0000195037" "0" "77" "8" "118831988" "118831988" "del" "0" "02210" "EXT1_000646" "g.118831988del" "" "Jennes, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.117819749del" "" "likely pathogenic" "" "0000195038" "0" "77" "8" "118831988" "118831988" "del" "0" "02215" "EXT1_000710" "g.118831988del" "" "Pedrini, not yet published" "" "1463-1468delC" "" "Unknown" "" "" "0" "" "" "g.117819749del" "" "likely pathogenic" "" "0000195039" "0" "77" "8" "118831988" "118831988" "dup" "0" "02210" "EXT1_000292" "g.118831988dup" "" "{PMID11170095:Seki, 2001}" "" "1468_1469insC" "" "Unknown" "" "" "0" "" "" "g.117819749dup" "" "likely pathogenic" "" "0000195040" "0" "77" "8" "118831988" "118831988" "dup" "0" "02210" "EXT1_000293" "g.118831988dup" "" "{PMID15586175:Vink, 2004}" "" "1469insC" "" "Unknown" "" "" "0" "" "" "g.117819749dup" "" "likely pathogenic" "" "0000195041" "0" "77" "8" "118831988" "118831988" "dup" "0" "02210" "EXT1_000294" "g.118831988dup" "" "{PMID17301954:Signori, 2007}" "" "1468insC" "" "Unknown" "" "" "0" "" "" "g.117819749dup" "" "likely pathogenic" "" "0000195042" "0" "77" "8" "118831988" "118831988" "dup" "0" "02210" "EXT1_000295" "g.118831988dup" "" "{PMID17301954:Signori, 2007}" "" "1468insC" "" "Unknown" "" "" "0" "" "" "g.117819749dup" "" "likely pathogenic" "" "0000195043" "0" "77" "8" "118831988" "118831988" "dup" "0" "02210" "EXT1_000296" "g.118831988dup" "" "{PMID18165274:Jennes, 2008}" "" "1468dupC" "" "Germline" "" "" "0" "" "" "g.117819749dup" "" "likely pathogenic" "" "0000195044" "0" "77" "8" "118831988" "118831988" "dup" "0" "02210" "EXT1_000297" "g.118831988dup" "" "Jennes, not yet published" "" "1469insC" "" "Germline" "" "" "0" "" "" "g.117819749dup" "" "likely pathogenic" "" "0000195045" "0" "77" "8" "118831988" "118831988" "dup" "0" "02212" "EXT1_000517" "g.118831988dup" "" "Pedrini, not yet published" "" "c.1468_1469insC" "" "Germline" "" "" "0" "" "" "g.117819749dup" "" "likely pathogenic" "" "0000195046" "0" "77" "8" "118831988" "118831988" "dup" "0" "02213" "EXT1_000567" "g.118831988dup" "" "Casey, not yet published" "" "1468insC" "" "Unknown" "" "" "0" "" "" "g.117819749dup" "" "likely pathogenic" "" "0000195047" "0" "77" "8" "118831988" "118831988" "dup" "0" "02213" "EXT1_000568" "g.118831988dup" "" "Casey, not yet published" "" "1468insC" "" "Unknown" "" "" "0" "" "" "g.117819749dup" "" "likely pathogenic" "" "0000195048" "0" "77" "8" "118831988" "118831988" "dup" "0" "02210" "EXT1_000593" "g.118831988dup" "" "Jennes, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.117819749dup" "" "likely pathogenic" "" "0000195049" "0" "77" "8" "118831982" "118831982" "del" "0" "02210" "EXT1_000298" "g.118831982del" "" "{PMID7550340:Ahn, 1995}" "" "2120delT" "The deletion is located in the second polyprymidine tract (CCCCCCT), which is know to be a deletion hotspot." "Germline" "" "" "0" "" "" "g.117819743del" "" "likely pathogenic" "" "0000195050" "0" "77" "8" "118831982" "118831982" "del" "0" "02210" "EXT1_000299" "g.118831982del" "" "{PMID7550340:Ahn, 1995}" "" "2120delT" "The deletion is located in the second polyprymidine tract (CCCCCCT), which is know to be a deletion hotspot." "Germline" "" "" "0" "" "" "g.117819743del" "" "likely pathogenic" "" "0000195051" "0" "77" "8" "118831982" "118831982" "del" "0" "02210" "EXT1_000300" "g.118831982del" "" "{PMID9326317:Philippe, 1997}" "" "1469delT" "The deletion is located in the second polyprymidine tract (CCCCCCT), which is know to be a deletion hotspot." "De novo" "" "" "0" "" "" "g.117819743del" "" "likely pathogenic" "" "0000195052" "0" "77" "8" "118831982" "118831982" "del" "0" "02210" "EXT1_000301" "g.118831982del" "" "{PMID9326317:Philippe, 1997}" "" "1469delT" "The deletion is located in the second polyprymidine tract (CCCCCCT), which is know to be a deletion hotspot." "Germline" "" "" "0" "" "" "g.117819743del" "" "likely pathogenic" "" "0000195053" "0" "77" "8" "118831982" "118831982" "del" "0" "02210" "EXT1_000302" "g.118831982del" "" "{PMID9150727:Wells, 1997}" "" "2120delT" "The deletion is located in the second polyprymidine tract (CCCCCCT), which is know to be a deletion hotspot." "Germline" "" "" "0" "" "" "g.117819743del" "" "likely pathogenic" "" "0000195054" "0" "77" "8" "118831982" "118831982" "del" "0" "02210" "EXT1_000303" "g.118831982del" "" "{PMID9463333:Wuyts, 1998}" "" "1469delT" "The deletion is located in the second polyprymidine tract (CCCCCCT), which is know to be a deletion hotspot." "Germline" "" "" "0" "" "" "g.117819743del" "" "likely pathogenic" "" "0000195055" "0" "77" "8" "118831982" "118831982" "del" "0" "02210" "EXT1_000304" "g.118831982del" "" "{PMID10480354:Xu, 1999}" "" "1469delT" "The deletion is located in the second polyprymidine tract (CCCCCCT), which is know to be a deletion hotspot." "Germline" "" "" "0" "" "" "g.117819743del" "" "likely pathogenic" "" "0000195056" "0" "77" "8" "118831982" "118831982" "del" "0" "02210" "EXT1_000305" "g.118831982del" "" "{PMID16088908:Pedrini, 2005}" "" "1469delT" "The deletion is located in the second polyprymidine tract (CCCCCCT), which is know to be a deletion hotspot." "Germline" "" "" "0" "" "" "g.117819743del" "" "likely pathogenic" "" "0000195057" "0" "77" "8" "118831982" "118831982" "del" "0" "02210" "EXT1_000306" "g.118831982del" "" "{PMID17301954:Signori, 2007}" "" "1469delT" "The deletion is located in the second polyprymidine tract (CCCCCCT), which is know to be a deletion hotspot." "Unknown" "" "" "0" "" "" "g.117819743del" "" "likely pathogenic" "" "0000195058" "0" "77" "8" "118831982" "118831982" "del" "0" "02210" "EXT1_000307" "g.118831982del" "" "{PMID17301954:Signori, 2007}" "" "1469delT" "The deletion is located in the second polyprymidine tract (CCCCCCT), which is know to be a deletion hotspot." "Unknown" "" "" "0" "" "" "g.117819743del" "" "likely pathogenic" "" "0000195059" "0" "77" "8" "118831982" "118831982" "del" "0" "02210" "EXT1_000308" "g.118831982del" "" "{PMID11432960:Francannet, 2001}" "" "1469delT" "The deletion is located in the second polyprymidine tract (CCCCCCT), which is know to be a deletion hotspot." "Germline" "" "" "0" "" "" "g.117819743del" "" "likely pathogenic" "" "0000195060" "0" "77" "8" "118831982" "118831982" "del" "0" "02210" "EXT1_000309" "g.118831982del" "" "{PMID11432960:Francannet, 2001}" "" "1469delT" "The deletion is located in the second polyprymidine tract (CCCCCCT), which is know to be a deletion hotspot." "Germline" "" "" "0" "" "" "g.117819743del" "" "likely pathogenic" "" "0000195061" "0" "77" "8" "118831982" "118831982" "del" "0" "02210" "EXT1_000310" "g.118831982del" "" "{PMID18165274:Jennes, 2008}" "" "1469delT" "The deletion is located in the second polyprymidine tract (CCCCCCT), which is know to be a deletion hotspot." "Germline" "" "" "0" "" "" "g.117819743del" "" "likely pathogenic" "" "0000195062" "0" "77" "8" "118831982" "118831982" "del" "0" "02210" "EXT1_000311" "g.118831982del" "" "{PMID18165274:Jennes, 2008}" "" "1469delT" "The deletion is located in the second polyprymidine tract (CCCCCCT), which is know to be a deletion hotspot." "Germline" "" "" "0" "" "" "g.117819743del" "" "likely pathogenic" "" "0000195063" "0" "77" "8" "118831982" "118831982" "del" "0" "02210" "EXT1_000312" "g.118831982del" "" "Jennes, not yet published" "" "" "The deletion is located in the second polyprymidine tract (CCCCCCT), which is know to be a deletion hotspot." "Germline" "" "" "0" "" "" "g.117819743del" "" "likely pathogenic" "" "0000195064" "0" "77" "8" "118831982" "118831982" "del" "0" "02210" "EXT1_000313" "g.118831982del" "" "Jennes, not yet published" "" "" "The deletion is located in the second polyprymidine tract (CCCCCCT), which is know to be a deletion hotspot." "Germline" "" "" "0" "" "" "g.117819743del" "" "likely pathogenic" "" "0000195065" "0" "77" "8" "118831982" "118831982" "del" "0" "02210" "EXT1_000314" "g.118831982del" "" "Jennes, not yet published" "" "" "The deletion is located in the second polyprymidine tract (CCCCCCT), which is know to be a deletion hotspot." "Germline" "" "" "0" "" "" "g.117819743del" "" "likely pathogenic" "" "0000195066" "0" "77" "8" "118831982" "118831982" "del" "0" "02152" "EXT1_000425" "g.118831982del" "" "Bakker, not yet published" "" "" "The deletion is located in the second polyprymidine tract (CCCCCCT), which is know to be a deletion hotspot." "Unknown" "" "" "0" "" "" "g.117819743del" "" "likely pathogenic" "" "0000195067" "0" "77" "8" "118831982" "118831982" "del" "0" "02152" "EXT1_000426" "g.118831982del" "" "Bakker, not yet published" "" "" "The deletion is located in the second polyprymidine tract (CCCCCCT), which is know to be a deletion hotspot." "Unknown" "" "" "0" "" "" "g.117819743del" "" "likely pathogenic" "" "0000195068" "0" "77" "8" "118831982" "118831982" "del" "0" "02212" "EXT1_000518" "g.118831982del" "" "Pedrini, not yet published" "" "c.1469delT" "The deletion is located in the second polyprymidine tract (CCCCCCT), which is know to be a deletion hotspot." "Unknown" "" "" "0" "" "" "g.117819743del" "" "likely pathogenic" "" "0000195069" "0" "77" "8" "118831982" "118831982" "del" "0" "02212" "EXT1_000519" "g.118831982del" "" "Pedrini, not yet published" "" "c.1469delT" "The deletion is located in the second polyprymidine tract (CCCCCCT), which is know to be a deletion hotspot." "Germline" "" "" "0" "" "" "g.117819743del" "" "likely pathogenic" "" "0000195070" "0" "77" "8" "118831982" "118831982" "del" "0" "02212" "EXT1_000520" "g.118831982del" "" "Pedrini, not yet published" "" "c.1469delT" "The deletion is located in the second polyprymidine tract (CCCCCCT), which is know to be a deletion hotspot." "Germline" "" "" "0" "" "" "g.117819743del" "" "likely pathogenic" "" "0000195071" "0" "77" "8" "118831982" "118831982" "del" "0" "02212" "EXT1_000521" "g.118831982del" "" "Pedrini, not yet published" "" "c.1469delT" "The deletion is located in the second polyprymidine tract (CCCCCCT), which is know to be a deletion hotspot." "Germline" "" "" "0" "" "" "g.117819743del" "" "likely pathogenic" "" "0000195072" "0" "77" "8" "118831982" "118831982" "del" "0" "02212" "EXT1_000522" "g.118831982del" "" "Pedrini, not yet published" "" "c.1469delT" "The deletion is located in the second polyprymidine tract (CCCCCCT), which is know to be a deletion hotspot." "Germline" "" "" "0" "" "" "g.117819743del" "" "likely pathogenic" "" "0000195073" "0" "77" "8" "118831982" "118831982" "del" "0" "02212" "EXT1_000523" "g.118831982del" "" "Pedrini, not yet published" "" "c.1469delT" "The deletion is located in the second polyprymidine tract (CCCCCCT), which is know to be a deletion hotspot." "Germline" "" "" "0" "" "" "g.117819743del" "" "likely pathogenic" "" "0000195074" "0" "77" "8" "118831982" "118831982" "del" "0" "02213" "EXT1_000569" "g.118831982del" "" "Casey, not yet published" "" "1469delT" "The deletion is located in the second polyprymidine tract (CCCCCCT), which is know to be a deletion hotspot." "Unknown" "" "" "0" "" "" "g.117819743del" "" "likely pathogenic" "" "0000195075" "0" "77" "8" "118831982" "118831982" "del" "0" "02214" "EXT1_000589" "g.118831982del" "" "Asteggiano, not yet published" "" "1469delT" "The deletion is located in the second polyprymidine tract (CCCCCCT), which is know to be a deletion hotspot." "De novo" "" "" "0" "" "" "g.117819743del" "" "likely pathogenic" "" "0000195076" "0" "77" "8" "118831982" "118831982" "del" "0" "02210" "EXT1_000599" "g.118831982del" "" "Jennes, not yet published" "" "" "The deletion is located in the second polyprymidine tract (CCCCCCT), which is know to be a deletion hotspot." "De novo" "" "" "0" "" "" "g.117819743del" "" "likely pathogenic" "" "0000195077" "0" "77" "8" "118831982" "118831982" "del" "0" "02210" "EXT1_000603" "g.118831982del" "" "Jennes, not yet published" "" "" "The deletion is located in the second polyprymidine tract (CCCCCCT), which is know to be a deletion hotspot." "Unknown" "" "" "0" "" "" "g.117819743del" "" "likely pathogenic" "" "0000195078" "0" "77" "8" "118831982" "118831982" "del" "0" "02210" "EXT1_000605" "g.118831982del" "" "Jennes, not yet published" "" "" "The deletion is located in the second polyprymidine tract (CCCCCCT), which is know to be a deletion hotspot." "Germline" "" "" "0" "" "" "g.117819743del" "" "likely pathogenic" "" "0000195079" "0" "77" "8" "118831982" "118831982" "del" "0" "02215" "EXT1_000623" "g.118831982del" "" "Pedrini, not yet published" "" "2120delT" "The deletion is located in the second polyprymidine tract (CCCCCCT), which is know to be a deletion hotspot." "Germline" "" "" "0" "" "" "g.117819743del" "" "likely pathogenic" "" "0000195080" "0" "77" "8" "118831982" "118831982" "del" "0" "02215" "EXT1_000636" "g.118831982del" "" "Pedrini, not yet published" "" "2120delT" "The deletion is located in the second polyprymidine tract (CCCCCCT), which is know to be a deletion hotspot." "Germline" "" "" "0" "" "" "g.117819743del" "" "likely pathogenic" "" "0000195081" "0" "77" "8" "118831982" "118831982" "del" "0" "02210" "EXT1_000662" "g.118831982del" "" "Jennes, not yet published" "" "c.1469delT" "The deletion is located in the second polyprymidine tract (CCCCCCT), which is know to be a deletion hotspot." "Unknown" "" "" "0" "" "" "g.117819743del" "" "likely pathogenic" "" "0000195082" "0" "77" "8" "118831982" "118831982" "del" "0" "02210" "EXT1_000674" "g.118831982del" "" "Jennes, not yet published" "" "2120delT" "The deletion is located in the second polyprymidine tract (CCCCCCT), which is know to be a deletion hotspot." "Unknown" "" "" "0" "" "" "g.117819743del" "" "likely pathogenic" "" "0000195083" "0" "77" "8" "118831982" "118831982" "del" "0" "02210" "EXT1_000675" "g.118831982del" "" "Jennes, not yet published" "" "2120delT" "The deletion is located in the second polyprymidine tract (CCCCCCT), which is know to be a deletion hotspot." "Unknown" "" "" "0" "" "" "g.117819743del" "" "likely pathogenic" "" "0000195084" "0" "77" "8" "118831982" "118831982" "del" "0" "02210" "EXT1_000684" "g.118831982del" "" "Jennes, not yet published" "" "1469delT" "The deletion is located in the second polyprymidine tract (CCCCCCT), which is know to be a deletion hotspot." "Unknown" "" "" "0" "" "" "g.117819743del" "" "likely pathogenic" "" "0000195085" "0" "77" "8" "118831982" "118831982" "del" "0" "02210" "EXT1_000690" "g.118831982del" "" "{PMID:Pei 2010:21039224}" "" "c.1469delT" "The deletion is located in the second polyprymidine tract (CCCCCCT), which is know to be a deletion hotspot." "Germline" "" "" "0" "" "" "g.117819743del" "" "likely pathogenic" "" "0000195086" "0" "77" "8" "118831978" "118831979" "del" "0" "02210" "EXT1_000315" "g.118831978_118831979del" "" "{PMID11170095:Seki, 2001}" "" "1474_1475delTC" "" "Germline" "" "" "0" "" "" "g.117819739_117819740del" "" "likely pathogenic" "" "0000195087" "0" "77" "8" "118831975" "118831975" "del" "0" "02210" "EXT1_000316" "g.118831975del" "" "{PMID17301954:Signori, 2007}" "" "1476delT" "" "Unknown" "" "" "0" "" "" "g.117819736del" "" "likely pathogenic" "" "0000195088" "0" "77" "8" "118831978" "118831979" "del" "0" "02210" "EXT1_000317" "g.118831978_118831979del" "" "Jennes, not yet published" "" "1476_1477delTC" "" "Germline" "" "" "0" "" "" "g.117819739_117819740del" "" "likely pathogenic" "" "0000195089" "0" "77" "8" "118831974" "118831974" "subst" "0" "02210" "EXT1_000318" "g.118831974G>A" "" "{PMID18165274:Jennes, 2008}" "" "" "" "Germline" "" "" "0" "" "" "g.117819735G>A" "" "likely pathogenic" "" "0000195090" "0" "77" "8" "118831968" "118831968" "subst" "0" "02210" "EXT1_000691" "g.118831968G>A" "" "{PMID:Pei 2010:21039224}" "" "" "" "Germline" "" "" "0" "" "" "g.117819729G>A" "" "likely pathogenic" "" "0000195091" "0" "79" "8" "118831964" "118831964" "subst" "0" "02210" "EXT1_000319" "g.118831964G>A" "" "{PMID10480354:Xu, 1999}" "" "" "This variant is reported as pathogenic by Uniprot." "Germline" "" "" "0" "" "" "g.117819725G>A" "" "likely pathogenic" "" "0000195092" "0" "77" "8" "118831957" "118831957" "del" "0" "02213" "EXT1_000570" "g.118831957del" "" "Casey, not yet published" "" "1494delG" "" "Unknown" "" "" "0" "" "" "g.117819718del" "" "likely pathogenic" "" "0000195093" "0" "77" "8" "118831942" "118831942" "dup" "0" "02210" "EXT1_000320" "g.118831942dup" "" "Jennes, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.117819703dup" "" "likely pathogenic" "" "0000195094" "0" "77" "8" "118831929" "118831929" "subst" "0" "02215" "EXT1_000666" "g.118831929G>A" "" "Pedrini, not yet published" "" "" "" "Unknown" "" "" "0" "" "" "g.117819690G>A" "" "likely pathogenic" "" "0000195095" "0" "77" "8" "118831924" "118831924" "subst" "0" "02215" "EXT1_000652" "g.118831924G>C" "" "Pedrini, not yet published" "" "" "" "Unknown" "" "" "0" "" "" "g.117819685G>C" "" "likely pathogenic" "" "0000195096" "0" "77" "8" "118831917" "118831917" "subst" "0" "02210" "EXT1_000322" "g.118831917G>A" "" "Jennes, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.117819678G>A" "" "likely pathogenic" "" "0000195097" "0" "77" "8" "118831919" "118831919" "del" "0" "02210" "EXT1_000321" "g.118831919del" "" "{PMID16088908:Pedrini, 2005}" "" "1534delC" "" "Germline" "" "" "0" "" "" "g.117819680del" "" "likely pathogenic" "" "0000195098" "0" "77" "8" "118831914" "118831914" "subst" "0" "02213" "EXT1_000571" "g.118831914C>T" "" "Casey, not yet published" "" "" "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.117819675C>T" "" "likely pathogenic" "" "0000195099" "0" "77" "8" "118831914" "118831914" "subst" "0" "02210" "EXT1_000323" "g.118831914C>G" "" "Jennes, not yet published" "" "" "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.117819675C>G" "" "likely pathogenic" "" "0000195100" "0" "77" "8" "118831914" "118831914" "subst" "0" "02210" "EXT1_000324" "g.118831914C>A" "" "{PMID10671060:Wolf, 1998}" "" "" "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.117819675C>A" "" "likely pathogenic" "" "0000195101" "0" "77" "8" "118831914" "118831914" "subst" "0" "02210" "EXT1_000325" "g.118831914C>A" "" "{PMID:Dobson-Stone 2000:10713884}" "" "" "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.117819675C>A" "" "likely pathogenic" "" "0000195102" "0" "77" "8" "118831914" "118831914" "subst" "0" "02210" "EXT1_000326" "g.118831914C>A" "" "{PMID16088908:Pedrini, 2005}" "" "" "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.117819675C>A" "" "likely pathogenic" "" "0000195103" "0" "77" "8" "118831908" "118831908" "subst" "0.00134336" "02213" "EXT1_000572" "g.118831908C>T" "" "Casey, not yet published" "" "" "Substitution in intron 6. The consequence of this change is not predictable." "Unknown" "" "" "0" "" "" "g.117819669C>T" "" "likely pathogenic" "" "0000195104" "0" "77" "8" "118830771" "118830771" "subst" "0" "02210" "EXT1_000329" "g.118830771T>C" "" "Jennes, not yet published" "" "" "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.117818532T>C" "" "likely pathogenic" "" "0000195105" "0" "77" "8" "118830770" "118830770" "subst" "0" "02210" "EXT1_000327" "g.118830770C>G" "" "{PMID18165274:Jennes, 2008}" "" "" "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.117818531C>G" "" "likely pathogenic" "" "0000195106" "0" "77" "8" "118830770" "118830770" "subst" "0" "02210" "EXT1_000328" "g.118830770C>A" "" "{PMID15586175:Vink, 2004}" "" "1535-1G>T" "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.117818531C>A" "" "likely pathogenic" "" "0000195107" "0" "77" "8" "118830770" "118830770" "subst" "0" "02215" "EXT1_000654" "g.118830770C>A" "" "Pedrini, not yet published" "" "" "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.117818531C>A" "" "likely pathogenic" "" "0000195108" "0" "77" "8" "118825110" "118830770" "del" "0" "02152" "EXT1_000403" "g.(118819617_118825110)_(118830770_118831914)del" "" "Bakker, not yet published" "" "c.1537-?_1722+?del (del ex 7-8)" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000195109" "0" "77" "8" "118830756" "118830756" "subst" "0" "02210" "EXT1_000330" "g.118830756C>T" "" "Jennes, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.117818517C>T" "" "likely pathogenic" "" "0000195110" "0" "77" "8" "118830756" "118830756" "dup" "0" "02210" "EXT1_000331" "g.118830756dup" "" "{PMID17301954:Signori, 2007}" "" "1551insG" "" "Unknown" "" "" "0" "" "" "g.117818517dup" "" "likely pathogenic" "" "0000195111" "0" "77" "8" "118830755" "118830755" "subst" "0" "02210" "EXT1_000612" "g.118830755C>T" "" "{PMID19344451:Heinritz, 2009}" "" "" "" "Germline" "" "" "0" "" "" "g.117818516C>T" "" "likely pathogenic" "" "0000195112" "0" "77" "8" "118830749" "118830749" "subst" "0" "02210" "EXT1_000332" "g.118830749A>T" "" "{PMID18165274:Jennes, 2008}" "" "" "" "Germline" "" "" "0" "" "" "g.117818510A>T" "" "likely pathogenic" "" "0000195113" "0" "77" "8" "118830738" "118830738" "del" "0" "02210" "EXT1_000333" "g.118830738del" "" "{PMID11432960:Francannet, 2001}" "" "1568delT" "" "Germline" "" "" "0" "" "" "g.117818499del" "" "likely pathogenic" "" "0000195114" "0" "77" "8" "118830738" "118830738" "del" "0" "02210" "EXT1_000334" "g.118830738del" "" "Jennes, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.117818499del" "" "likely pathogenic" "" "0000195115" "0" "77" "8" "118830738" "118830738" "dup" "0" "02212" "EXT1_000524" "g.118830738dup" "" "Pedrini, not yet published" "" "c.1568_1569insT" "" "Unknown" "" "" "0" "" "" "g.117818499dup" "" "likely pathogenic" "" "0000195116" "0" "77" "8" "118830723" "118830736" "del" "0" "02210" "EXT1_000335" "g.118830723_118830736del" "" "{PMID18373409: Leube, 2008}" "" "" "" "Germline" "" "" "0" "" "" "g.117818484_117818497del" "" "likely pathogenic" "" "0000195117" "0" "77" "8" "118830719" "118830719" "subst" "0" "02210" "EXT1_000336" "g.118830719C>T" "" "{PMID17041877:Lonie, 2006}" "" "" "" "Unknown" "" "" "0" "" "" "g.117818480C>T" "" "likely pathogenic" "" "0000195118" "0" "77" "8" "118830719" "118830719" "subst" "0" "02210" "EXT1_000337" "g.118830719C>T" "" "{PMID17301954:Signori, 2007}" "" "" "" "Unknown" "" "" "0" "" "" "g.117818480C>T" "" "likely pathogenic" "" "0000195119" "0" "77" "8" "118830719" "118830719" "subst" "0" "02215" "EXT1_000625" "g.118830719C>T" "" "Pedrini, not yet published" "" "" "" "Unknown" "" "" "0" "" "" "g.117818480C>T" "" "likely pathogenic" "" "0000195120" "0" "75" "8" "118830710" "118830710" "del" "0" "02172" "EXT1_000718" "g.118830710del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.117818471del" "" "likely pathogenic" "" "0000195121" "0" "77" "8" "118830697" "118830697" "subst" "0.00012189" "02212" "EXT1_000525" "g.118830697C>T" "" "Pedrini, not yet published" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Weakly conserved amino acid, Small physicochemical difference between Val & Ile (Grantham dist.: 29 [0-215]), This variation is in protein domain: EXTL2, alpha-1,4-N-acetylhexosaminyltransferase." "Germline" "" "" "0" "" "" "g.117818458C>T" "" "likely pathogenic" "" "0000195122" "0" "77" "8" "118830687" "118830687" "del" "0" "02215" "EXT1_000706" "g.118830687del" "" "Pedrini, not yet published" "" "" "" "Unknown" "" "" "0" "" "" "g.117818448del" "" "likely pathogenic" "" "0000195123" "0" "77" "8" "118830665" "118830688" "del" "0" "02210" "EXT1_000338" "g.118830665_118830688del" "" "{PMID16088908:Pedrini, 2005}" "" "1623_1632+14del24" "" "Germline" "" "" "0" "" "" "g.117818426_117818449del" "" "likely pathogenic" "" "0000195124" "0" "77" "8" "118830682" "118830682" "subst" "0" "02213" "EXT1_000573" "g.118830682C>A" "" "Casey, not yet published" "" "" "" "Unknown" "" "" "0" "" "" "g.117818443C>A" "" "likely pathogenic" "" "0000195125" "0" "57" "8" "118830673" "118830673" "subst" "0" "02172" "EXT1_000717" "g.118830673C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.117818434C>G" "" "VUS" "" "0000195126" "0" "55" "8" "118825226" "118825226" "subst" "0.00280385" "02210" "EXT1_000342" "g.118825226G>T" "" "{PMID16604483:Xie, 2006}" "" "" "Substitution in intron 7. The consequence of this change is not predictable." "Unknown" "" "" "0" "" "" "g.117812987G>T" "" "VUS" "" "0000195127" "0" "77" "8" "118825202" "118825202" "subst" "0" "02210" "EXT1_000339" "g.118825202T>C" "" "{PMID16088908:Pedrini, 2005}" "" "" "This substitution is located in the acceptor splice site of intron 7. The consequence of this change is not predictable, but a skip of exon 8 is very likely." "Germline" "" "" "0" "" "" "g.117812963T>C" "" "likely pathogenic" "" "0000195128" "0" "77" "8" "118825202" "118825202" "subst" "0" "02210" "EXT1_000340" "g.118825202T>C" "" "{PMID18165274:Jennes, 2008}" "" "" "This substitution is located in the acceptor splice site of intron 7. The consequence of this change is not predictable, but a skip of exon 8 is very likely." "Germline" "" "" "0" "" "" "g.117812963T>C" "" "likely pathogenic" "" "0000195129" "0" "77" "8" "118825202" "118825202" "del" "0" "02210" "EXT1_000341" "g.118825202del" "" "{PMID:Dobson-Stone 2000:10713884}" "" "1633-2delA" "This substitution is located in the acceptor splice site of intron 7. The consequence of this change is not predictable, but a skip of exon 8 is very likely." "Unknown" "" "" "0" "" "" "g.117812963del" "" "likely pathogenic" "" "0000195130" "0" "77" "8" "118825201" "118825201" "subst" "0" "02212" "EXT1_000526" "g.118825201C>G" "" "Pedrini, not yet published" "" "c.1633(-1)G>C" "This substitution is located in the acceptor splice site of intron 7. The consequence of this change is not predictable, but a skip of exon 8 is very likely." "Unknown" "" "" "0" "" "" "g.117812962C>G" "" "likely pathogenic" "" "0000195131" "0" "77" "8" "118825199" "118825200" "ins" "0" "02212" "EXT1_000527" "g.118825199_118825200insGGAAA" "" "Pedrini, not yet published" "" "c.1633_1634ins(TTTCC)" "" "Germline" "" "" "0" "" "" "g.117812960_117812961insGGAAA" "" "likely pathogenic" "" "0000195132" "0" "77" "8" "118825191" "118825191" "del" "0" "02210" "EXT1_000343" "g.118825191del" "" "{PMID11668521:Gigante, 2001}" "" "1642delA" "" "Germline" "" "" "0" "" "" "g.117812952del" "" "likely pathogenic" "" "0000195133" "0" "77" "8" "118825191" "118825191" "del" "0" "02210" "EXT1_000344" "g.118825191del" "" "{PMID17041877:Lonie, 2006}" "" "1642delA" "" "Unknown" "" "" "0" "" "" "g.117812952del" "" "likely pathogenic" "" "0000195134" "0" "77" "8" "118825191" "118825191" "del" "0" "02210" "EXT1_000345" "g.118825191del" "" "{PMID11432960:Francannet, 2001}" "" "1642delA" "" "Germline" "" "" "0" "" "" "g.117812952del" "" "likely pathogenic" "" "0000195135" "0" "77" "8" "118825191" "118825191" "del" "0" "02210" "EXT1_000659" "g.118825191del" "" "Jennes, not yet published" "" "" "" "Unknown" "" "" "0" "" "" "g.117812952del" "" "likely pathogenic" "" "0000195136" "0" "77" "8" "118825189" "118825189" "del" "0" "02210" "EXT1_000346" "g.118825189del" "" "Jennes, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.117812950del" "" "likely pathogenic" "" "0000195137" "0" "77" "8" "118825189" "118825189" "del" "0" "02210" "EXT1_000347" "g.118825189del" "" "{PMID18373409: Leube, 2008}" "" "1645delC" "" "Germline" "" "" "0" "" "" "g.117812950del" "" "likely pathogenic" "" "0000195138" "0" "77" "8" "118825189" "118825189" "del" "0" "02212" "EXT1_000528" "g.118825189del" "" "Pedrini, not yet published" "" "c.1644delC" "" "Unknown" "" "" "0" "" "" "g.117812950del" "" "likely pathogenic" "" "0000195139" "0" "77" "8" "118825185" "118825186" "del" "0" "02212" "EXT1_000529" "g.118825185_118825186del" "" "Pedrini, not yet published" "" "c.1649_1650delTT" "" "Unknown" "" "" "0" "" "" "g.117812946_117812947del" "" "likely pathogenic" "" "0000195140" "0" "77" "8" "118825170" "118825176" "delins" "0" "02212" "EXT1_000530" "g.118825170_118825176delins13" "" "Pedrini, not yet published" "" "c.1657_1669(del7nt+ins13nt)" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000195141" "0" "77" "8" "118825174" "118825174" "subst" "0" "02210" "EXT1_000348" "g.118825174G>T" "" "{PMID18165274:Jennes, 2008}" "" "" "" "Germline" "" "" "0" "" "" "g.117812935G>T" "" "likely pathogenic" "" "0000195142" "0" "77" "8" "118825174" "118825174" "subst" "0" "02210" "EXT1_000349" "g.118825174G>T" "" "Jennes, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.117812935G>T" "" "likely pathogenic" "" "0000195143" "0" "77" "8" "118825164" "118825173" "del" "0" "02212" "EXT1_000531" "g.118825164_118825173del" "" "Pedrini, not yet published" "" "c.1660_1669del(10nt), exon 1" "" "Unknown" "" "" "0" "" "" "g.117812925_117812934del" "" "likely pathogenic" "" "0000195144" "0" "77" "8" "118825170" "118825170" "dup" "0" "02210" "EXT1_000350" "g.118825170dup" "" "{PMID15253765:Faiyaz-Ul-Haque, 2004}" "" "1664_1665insA" "" "Germline" "" "" "0" "" "" "g.117812931dup" "" "likely pathogenic" "" "0000195145" "0" "77" "8" "118825152" "118825156" "delins" "0" "02210" "EXT1_000351" "g.118825152_118825156delinsTCA" "" "Jennes, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.117812913_117812917delinsTCA" "" "likely pathogenic" "" "0000195146" "0" "77" "8" "118825154" "118825154" "dup" "0" "02210" "EXT1_000352" "g.118825154dup" "" "{PMID9463333:Wuyts, 1998}" "" "1679_1680insC" "" "Germline" "" "" "0" "" "" "g.117812915dup" "" "likely pathogenic" "" "0000195147" "0" "77" "8" "118825148" "118825148" "subst" "0" "02210" "EXT1_000353" "g.118825148A>G" "" "{PMID18165274:Jennes, 2008}" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to Fruitfly, Moderate physicochemical difference between Leu & Pro (Grantham dist.: 98 [0-215]), This variation is in protein domain: EXTL2, alpha-1,4-N-acetylhexosaminyltransferase." "Germline" "" "" "0" "" "" "g.117812909A>G" "" "likely pathogenic" "" "0000195148" "0" "77" "8" "118825148" "118825148" "subst" "0" "02210" "EXT1_000354" "g.118825148A>G" "" "{PMID18165274:Jennes, 2008}" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to Fruitfly, Moderate physicochemical difference between Leu & Pro (Grantham dist.: 98 [0-215]), This variation is in protein domain: EXTL2, alpha-1,4-N-acetylhexosaminyltransferase." "Germline" "" "" "0" "" "" "g.117812909A>G" "" "likely pathogenic" "" "0000195149" "0" "77" "8" "118825148" "118825148" "subst" "0" "02210" "EXT1_000631" "g.118825148A>G" "" "Jennes, not yet published" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to Fruitfly, Moderate physicochemical difference between Leu & Pro (Grantham dist.: 98 [0-215]), This variation is in protein domain: EXTL2, alpha-1,4-N-acetylhexosaminyltransferase." "Germline" "" "" "0" "" "" "g.117812909A>G" "" "likely pathogenic" "" "0000195150" "0" "77" "8" "118825148" "118825148" "subst" "0" "02210" "EXT1_000632" "g.118825148A>G" "" "Jennes, not yet published" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to Fruitfly, Moderate physicochemical difference between Leu & Pro (Grantham dist.: 98 [0-215]), This variation is in protein domain: EXTL2, alpha-1,4-N-acetylhexosaminyltransferase." "Germline" "" "" "0" "" "" "g.117812909A>G" "" "likely pathogenic" "" "0000195151" "0" "77" "8" "118825148" "118825148" "subst" "0" "02212" "EXT1_000532" "g.118825148A>C" "" "Pedrini, not yet published" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Highly conserved amino acid, up to Fruitfly, Moderate physicochemical difference between Leu & Arg (Grantham dist.: 102 [0-215]), This variation is in protein domain: EXTL2, alpha-1,4-N-acetylhexosaminyltransferase." "Unknown" "" "" "0" "" "" "g.117812909A>C" "" "likely pathogenic" "" "0000195152" "0" "77" "8" "118825137" "118825137" "subst" "0" "02210" "EXT1_000355" "g.118825137C>A" "" "{PMID15586175:Vink, 2004}" "" "" "" "Unknown" "" "" "0" "" "" "g.117812898C>A" "" "likely pathogenic" "" "0000195153" "0" "77" "8" "118825137" "118825137" "subst" "0" "02210" "EXT1_000356" "g.118825137C>A" "" "Jennes, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.117812898C>A" "" "likely pathogenic" "" "0000195154" "0" "77" "8" "118825130" "118825131" "ins" "0" "02210" "EXT1_000613" "g.118825130_118825131ins5" "" "{PMID19344451:Heinritz, 2009}" "" "c.1702_1703ins5" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000195155" "0" "77" "8" "118825120" "118825120" "del" "0" "02210" "EXT1_000357" "g.118825120del" "" "Jennes, not yet published" "" "1714delA" "" "Germline" "" "" "0" "" "" "g.117812881del" "" "likely pathogenic" "" "0000195156" "0" "77" "8" "118825120" "118825120" "del" "0" "02210" "EXT1_000663" "g.118825120del" "" "Jennes, not yet published" "" "c.1714delA" "" "Unknown" "" "" "0" "" "" "g.117812881del" "" "likely pathogenic" "" "0000195157" "0" "77" "8" "118825113" "118825113" "subst" "0" "02210" "EXT1_000358" "g.118825113C>A" "" "{PMID16088908:Pedrini, 2005}" "" "" "" "Germline" "" "" "0" "" "" "g.117812874C>A" "" "likely pathogenic" "" "0000195158" "0" "77" "8" "118825110" "118825110" "subst" "0" "02215" "EXT1_000656" "g.118825110C>T" "" "Pedrini, not yet published" "" "" "This substitution is located in the donor splice site of intron 8. The consequence of this change is not predictable, but a skip of exon 8 is very likely." "Unknown" "" "" "0" "" "" "g.117812871C>T" "" "likely pathogenic" "" "0000195159" "0" "77" "8" "118825110" "118825110" "subst" "0" "02213" "EXT1_000574" "g.118825110C>G" "" "Casey, not yet published" "" "" "This substitution is located in the donor splice site of intron 8. The consequence of this change is not predictable, but a skip of exon 8 is very likely." "Unknown" "" "" "0" "" "" "g.117812871C>G" "" "likely pathogenic" "" "0000195160" "0" "77" "8" "118825110" "118825110" "subst" "0" "02210" "EXT1_000359" "g.118825110C>A" "" "{PMID18165274:Jennes, 2008}" "" "" "This substitution is located in the donor splice site of intron 8. The consequence of this change is not predictable, but a skip of exon 8 is very likely." "Germline" "" "" "0" "" "" "g.117812871C>A" "" "likely pathogenic" "" "0000195161" "0" "77" "8" "118825110" "118825110" "subst" "0" "02210" "EXT1_000595" "g.118825110C>A" "" "Jennes, not yet published" "" "" "This substitution is located in the donor splice site of intron 8. The consequence of this change is not predictable, but a skip of exon 8 is very likely." "Unknown" "" "" "0" "" "" "g.117812871C>A" "" "likely pathogenic" "" "0000195162" "0" "77" "8" "118825109" "118825109" "dup" "0" "02210" "EXT1_000360" "g.118825109dup" "" "Jennes, not yet published" "" "" "This substitution is located in the donor splice site of intron 8. The consequence of this change is not predictable, but a skip of exon 8 is very likely." "Germline" "" "" "0" "" "" "g.117812870dup" "" "likely pathogenic" "" "0000195163" "0" "77" "8" "118825109" "118825109" "subst" "0" "02215" "EXT1_000650" "g.118825109A>G" "" "Pedrini, not yet published" "" "" "This substitution is located in the donor splice site of intron 8. The consequence of this change is not predictable, but a skip of exon 8 is very likely." "Unknown" "" "" "0" "" "" "g.117812870A>G" "" "likely pathogenic" "" "0000195164" "0" "77" "8" "118825109" "118825109" "subst" "0" "02215" "EXT1_000669" "g.118825109A>G" "" "Pedrini, not yet published" "" "" "This substitution is located in the donor splice site of intron 8. The consequence of this change is not predictable, but a skip of exon 8 is very likely." "Germline" "" "" "0" "" "" "g.117812870A>G" "" "likely pathogenic" "" "0000195165" "0" "77" "8" "118819618" "118819618" "subst" "0" "02210" "EXT1_000362" "g.118819618T>G" "" "{PMID18165274:Jennes, 2008}" "" "1722-1A>C" "This substitution is located in the acceptor splice site of intron 8. The consequence of this change is not predictable, but a skip of exon 9 is very likely." "Germline" "" "" "0" "" "" "g.117807379T>G" "" "likely pathogenic" "" "0000195166" "0" "77" "8" "118819617" "118819617" "subst" "0" "02210" "EXT1_000598" "g.118819617C>T" "" "Jennes, not yet published" "" "" "This substitution is located in the acceptor splice site of intron 8. The consequence of this change is not predictable, but a skip of exon 9 is very likely." "Germline" "" "" "0" "" "" "g.117807378C>T" "" "likely pathogenic" "" "0000195167" "0" "77" "8" "118819617" "118819617" "subst" "0" "02210" "EXT1_000361" "g.118819617C>G" "" "{PMID15985493:Lemos, 2005}" "" "IVS8-1G>C" "This substitution is located in the acceptor splice site of intron 8. The consequence of this change is not predictable, but a skip of exon 9 is very likely." "Germline" "" "" "0" "" "" "g.117807378C>G" "" "likely pathogenic" "" "0000195168" "0" "77" "8" "118819616" "118819616" "subst" "0" "02210" "EXT1_000579" "g.118819616C>G" "" "{PMID16879194:Alvarez, 2006}" "" "" "Pathogenicity clues: Highly conserved nucleotide (score: 1.0 [0-1]), Moderately conserved amino acid, Small physicochemical difference between Val & Leu (Grantham dist.: 32 [0-215]), This variation is in protein domain: EXTL2, alpha-1,4-N-acetylhexosaminyltransferase." "Germline" "" "" "0" "" "" "g.117807377C>G" "" "likely pathogenic" "" "0000195169" "0" "77" "8" "118819595" "118819598" "del" "0" "02210" "EXT1_000363" "g.118819595_118819598del" "" "{PMID12032595:Li, 2002}" "" "1742delTGTG" "" "Germline" "" "" "0" "" "" "g.117807356_117807359del" "" "likely pathogenic" "" "0000195170" "0" "77" "8" "118819594" "118819594" "subst" "0" "02210" "EXT1_000364" "g.118819594C>T" "" "{PMID17041877:Lonie, 2006}" "" "" "" "Unknown" "" "" "0" "" "" "g.117807355C>T" "" "likely pathogenic" "" "0000195171" "0" "77" "8" "118819594" "118819594" "subst" "0" "02210" "EXT1_000365" "g.118819594C>T" "" "{PMID11432960:Francannet, 2001}" "" "" "" "Germline" "" "" "0" "" "" "g.117807355C>T" "" "likely pathogenic" "" "0000195172" "0" "77" "8" "118819594" "118819594" "subst" "0" "02212" "EXT1_000533" "g.118819594C>T" "" "Pedrini, not yet published" "" "" "" "Unknown" "" "" "0" "" "" "g.117807355C>T" "" "likely pathogenic" "" "0000195173" "0" "77" "8" "118819593" "118819593" "subst" "0" "02210" "EXT1_000366" "g.118819593C>T" "" "{PMID11432960:Francannet, 2001}" "" "1744G>A" "" "Germline" "" "" "0" "" "" "g.117807354C>T" "" "likely pathogenic" "" "0000195174" "0" "77" "8" "118819593" "118819593" "subst" "0" "02212" "EXT1_000534" "g.118819593C>T" "" "Pedrini, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.117807354C>T" "" "likely pathogenic" "" "0000195175" "0" "77" "8" "118819581" "118819581" "del" "0" "02212" "EXT1_000535" "g.118819581del" "" "Pedrini, not yet published" "" "c.1758delT" "" "Germline" "" "" "0" "" "" "g.117807342del" "" "likely pathogenic" "" "0000195176" "0" "11" "8" "118819578" "118819578" "subst" "0.407292" "02210" "EXT1_000367" "g.118819578C>T" "0,19/0,528" "{PMID9326317:Philippe 1997}" "" "(Protein: E587E, GAG>GAA)" "SNP rs7837891 C/T: Synonymous substitution. Codon GAG (freq: 0.583) changed to GAA (freq: 0.417), This variation does not alter the protein sequence." "Unknown" "" "rs7837891" "0" "" "" "g.117807339C>T" "" "benign" "" "0000195177" "0" "77" "8" "118819567" "118819571" "del" "0" "02210" "EXT1_000695" "g.118819567_118819571del" "" "Jennes, not yet published" "" "1770_1774delGGGGT" "" "Unknown" "" "" "0" "" "" "g.117807328_117807332del" "" "likely pathogenic" "" "0000195178" "0" "77" "8" "118819569" "118819569" "del" "0" "02210" "EXT1_000368" "g.118819569del" "" "{PMID11432960:Francannet, 2001}" "" "1773delG" "" "Germline" "" "" "0" "" "" "g.117807330del" "" "likely pathogenic" "" "0000195179" "0" "77" "8" "118819569" "118819569" "del" "0" "02210" "EXT1_000676" "g.118819569del" "" "Jennes, not yet published" "" "1773delG" "" "Unknown" "" "" "0" "" "" "g.117807330del" "" "likely pathogenic" "" "0000195180" "0" "77" "8" "118819563" "118819563" "subst" "0" "02210" "EXT1_000369" "g.118819563G>T" "" "{PMID11432960:Francannet, 2001}" "" "" "" "Germline" "" "" "0" "" "" "g.117807324G>T" "" "likely pathogenic" "" "0000195181" "0" "77" "8" "118819563" "118819563" "subst" "0" "02210" "EXT1_000370" "g.118819563G>T" "" "Jennes, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.117807324G>T" "" "likely pathogenic" "" "0000195182" "0" "77" "8" "118819563" "118819563" "subst" "0" "02152" "EXT1_000427" "g.118819563G>T" "" "Bakker, not yet published" "" "" "" "Unknown" "" "" "0" "" "" "g.117807324G>T" "" "likely pathogenic" "" "0000195183" "0" "55" "8" "118819560" "118819560" "subst" "0.000495572" "02210" "EXT1_000664" "g.118819560G>A" "" "Jennes, not yet published" "" "" "" "Unknown" "" "" "0" "" "" "g.117807321G>A" "" "VUS" "" "0000195184" "0" "77" "8" "118819559" "118819560" "del" "0" "02210" "EXT1_000371" "g.118819559_118819560del" "" "{PMID11432960:Francannet, 2001}" "" "1784delGC" "" "Germline" "" "" "0" "" "" "g.117807320_117807321del" "" "likely pathogenic" "" "0000195185" "0" "77" "8" "118819559" "118819560" "del" "0" "02152" "EXT1_000428" "g.118819559_118819560del" "" "Bakker, not yet published" "" "" "" "Unknown" "" "" "0" "" "" "g.117807320_117807321del" "" "likely pathogenic" "" "0000195186" "0" "77" "8" "118819543" "118819543" "subst" "0" "02210" "EXT1_000614" "g.118819543C>T" "" "{PMID19344451:Heinritz, 2009}" "" "" "" "Germline" "" "" "0" "" "" "g.117807304C>T" "" "likely pathogenic" "" "0000195187" "0" "77" "8" "118819542" "118819542" "subst" "0" "02210" "EXT1_000372" "g.118819542C>T" "" "{PMID11170095:Seki, 2001}" "" "" "" "Unknown" "" "" "0" "" "" "g.117807303C>T" "" "likely pathogenic" "" "0000195188" "0" "77" "8" "118819542" "118819542" "subst" "0" "02210" "EXT1_000373" "g.118819542C>T" "" "{PMID16088908:Pedrini, 2005}" "" "" "" "Unknown" "" "" "0" "" "" "g.117807303C>T" "" "likely pathogenic" "" "0000195189" "0" "77" "8" "118819542" "118819542" "subst" "0" "02212" "EXT1_000536" "g.118819542C>T" "" "Pedrini, not yet published" "" "" "" "Unknown" "" "" "0" "" "" "g.117807303C>T" "" "likely pathogenic" "" "0000195190" "0" "77" "8" "118819532" "118819532" "subst" "0" "02210" "EXT1_000374" "g.118819532T>A" "" "{PMID:Dobson-Stone 2000:10713884}" "" "" "" "Unknown" "" "" "0" "" "" "g.117807293T>A" "" "likely pathogenic" "" "0000195191" "0" "77" "8" "118819529" "118819529" "subst" "0" "02210" "EXT1_000375" "g.118819529C>A" "" "{PMID18165274:Jennes, 2008}" "" "" "" "Germline" "" "" "0" "" "" "g.117807290C>A" "" "likely pathogenic" "" "0000195192" "0" "77" "8" "118819525" "118819525" "del" "0" "02212" "EXT1_000537" "g.118819525del" "" "Pedrini, not yet published" "" "c.1815delG" "" "Unknown" "" "" "0" "" "" "g.117807286del" "" "likely pathogenic" "" "0000195193" "0" "77" "8" "118819523" "118819523" "del" "0" "02212" "EXT1_000538" "g.118819523del" "" "Pedrini, not yet published" "" "c.1816delT" "" "Unknown" "" "" "0" "" "" "g.117807284del" "" "likely pathogenic" "" "0000195194" "0" "77" "8" "118819522" "118819522" "subst" "0" "02210" "EXT1_000376" "g.118819522C>T" "" "{PMID9150727:Wells, 1997}" "" "(Protein: Trp606X, TGG>TAG)" "" "Germline" "" "" "0" "" "" "g.117807283C>T" "" "likely pathogenic" "" "0000195195" "0" "55" "8" "118819522" "118819522" "subst" "0" "02215" "EXT1_000376" "g.118819522C>T" "" "" "" "(Protein: Trp606X, TGG>TAG)" "" "Unknown" "" "" "0" "" "" "g.117807283C>T" "" "VUS" "" "0000195196" "0" "77" "8" "118819521" "118819521" "subst" "0" "02215" "EXT1_000700" "g.118819521C>T" "" "Pedrini, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.117807282C>T" "" "likely pathogenic" "" "0000195197" "0" "77" "8" "118819520" "118819520" "subst" "0" "02210" "EXT1_000673" "g.118819520C>A" "" "Jennes, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.117807281C>A" "" "likely pathogenic" "" "0000195198" "0" "77" "8" "118819504" "118819504" "subst" "0" "02210" "EXT1_000672" "g.118819504C>T" "" "Jennes, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.117807265C>T" "" "likely pathogenic" "" "0000195199" "0" "77" "8" "118819504" "118819504" "subst" "0" "02210" "EXT1_000677" "g.118819504C>T" "" "Jennes, not yet published" "" "" "" "Unknown" "" "" "0" "" "" "g.117807265C>T" "" "likely pathogenic" "" "0000195200" "0" "77" "8" "118819503" "118819503" "subst" "0" "02212" "EXT1_000539" "g.118819503C>T" "" "Pedrini, not yet published" "" "" "" "Unknown" "" "" "0" "" "" "g.117807264C>T" "" "likely pathogenic" "" "0000195201" "0" "55" "8" "118819497" "118819497" "subst" "0.0000121837" "02210" "EXT1_000377" "g.118819497G>A" "" "{PMID15586175:Vink, 2004}" "" "" "Synonymous substitution. Codon AAC (freq: 0.536) changed to AAT (freq: 0.464), This variation does not alter the protein sequence." "Unknown" "" "" "0" "" "" "g.117807258G>A" "" "VUS" "" "0000195202" "0" "77" "8" "118819446" "118819481" "del" "0" "02210" "EXT1_000615" "g.118819446_118819481del" "" "{PMID19344451:Heinritz, 2009}" "" "c.1859_1883+11del36" "" "Unknown" "" "" "0" "" "" "g.117807207_117807242del" "" "likely pathogenic" "" "0000195203" "0" "77" "8" "118819475" "118819475" "subst" "0" "02210" "EXT1_000693" "g.118819475C>A" "" "Jennes, not yet published" "" "" "" "Unknown" "" "" "0" "" "" "g.117807236C>A" "" "likely pathogenic" "" "0000195204" "0" "77" "8" "118819475" "118819475" "del" "0" "02210" "EXT1_000378" "g.118819475del" "" "{PMID12110435:Hecht, 2002}" "" "1865delG" "" "Germline" "" "" "0" "" "" "g.117807236del" "" "likely pathogenic" "" "0000195205" "0" "77" "8" "118819475" "118819475" "del" "0" "02210" "EXT1_000379" "g.118819475del" "" "{PMID12239711:Hall, 2002}" "" "1865delG" "" "Germline" "" "" "0" "" "" "g.117807236del" "" "likely pathogenic" "" "0000195206" "0" "77" "8" "118819460" "118819462" "del" "0" "02210" "EXT1_000380" "g.118819460_118819462del" "" "{PMID9521425:Raskind, 1998}" "" "2528del3" "" "Germline" "" "" "0" "" "" "g.117807221_117807223del" "" "likely pathogenic" "" "0000195207" "0" "77" "8" "118819455" "118819455" "subst" "0" "02152" "EXT1_000430" "g.118819455C>G" "" "Bakker, not yet published" "" "" "This substitution is located in the donor splice site of intron 9. The consequence of this change is not predictable, but a skip of exon 9 is very likely." "Unknown" "" "" "0" "" "" "g.117807216C>G" "" "likely pathogenic" "" "0000195208" "0" "77" "8" "118819455" "118819455" "subst" "0" "02152" "EXT1_000431" "g.118819455C>G" "" "Bakker, not yet published" "" "" "This substitution is located in the donor splice site of intron 9. The consequence of this change is not predictable, but a skip of exon 9 is very likely." "Unknown" "" "" "0" "" "" "g.117807216C>G" "" "likely pathogenic" "" "0000195209" "0" "77" "8" "118819454" "118819454" "subst" "0" "02210" "EXT1_000381" "g.118819454A>C" "" "{PMID11170095:Seki, 2001}" "" "" "This substitution is located in the donor splice site of intron 9. The consequence of this change is not predictable, but a skip of exon 9 is very likely." "Germline" "" "" "0" "" "" "g.117807215A>C" "" "likely pathogenic" "" "0000195210" "0" "77" "8" "118819454" "118819454" "subst" "0" "02212" "EXT1_000540" "g.118819454A>C" "" "Pedrini, not yet published" "" "c.1883(+2)T>G" "This substitution is located in the donor splice site of intron 9. The consequence of this change is not predictable, but a skip of exon 9 is very likely." "Unknown" "" "" "0" "" "" "g.117807215A>C" "" "likely pathogenic" "" "0000195211" "0" "77" "8" "118819454" "118819454" "subst" "0" "02210" "EXT1_000688" "g.118819454A>C" "" "{PMID:Pei 2010:21039224}" "" "" "This substitution is located in the donor splice site of intron 9. The consequence of this change is not predictable, but a skip of exon 9 is very likely." "Germline" "" "" "0" "" "" "g.117807215A>C" "" "likely pathogenic" "" "0000195212" "0" "77" "8" "118817122" "118817122" "dup" "0" "02210" "EXT1_000382" "g.118817122dup" "" "{PMID17301954:Signori, 2007}" "" "1894insT" "" "Unknown" "" "" "0" "" "" "g.117804883dup" "" "likely pathogenic" "" "0000195213" "0" "77" "8" "118817120" "118817120" "subst" "0" "02210" "EXT1_000383" "g.118817120G>T" "" "{PMID17041877:Lonie, 2006}" "" "" "" "Unknown" "" "" "0" "" "" "g.117804881G>T" "" "likely pathogenic" "" "0000195214" "0" "77" "8" "118817120" "118817120" "subst" "0" "02210" "EXT1_000616" "g.118817120G>C" "" "{PMID19344451:Heinritz, 2009}" "" "" "" "Germline" "" "" "0" "" "" "g.117804881G>C" "" "likely pathogenic" "" "0000195215" "0" "77" "8" "118817120" "118817120" "del" "0" "02210" "EXT1_000670" "g.118817120del" "" "{PMID20578942:Wen, 2010}" "" "1897delC" "" "Germline" "" "" "0" "" "" "g.117804881del" "" "likely pathogenic" "" "0000195216" "0" "77" "8" "118817112" "118817112" "del" "0" "02210" "EXT1_000384" "g.118817112del" "" "{PMID:Dobson-Stone 2000:10713884}" "" "1904-1906delC" "" "Unknown" "" "" "0" "" "" "g.117804873del" "" "likely pathogenic" "" "0000195217" "0" "77" "8" "118817102" "118817105" "dup" "0" "02210" "EXT1_000385" "g.118817102_118817105dup" "" "{PMID17301954:Signori, 2007}" "" "1911-14ins4" "" "Unknown" "" "" "0" "" "" "g.117804863_117804866dup" "" "likely pathogenic" "" "0000195218" "0" "77" "8" "118817102" "118817105" "dup" "0" "02210" "EXT1_000386" "g.118817102_118817105dup" "" "{PMID17041877:Lonie, 2006}" "" "1916_1917insTGCC" "" "Unknown" "" "" "0" "" "" "g.117804863_117804866dup" "" "likely pathogenic" "" "0000195219" "0" "77" "8" "118817099" "118817102" "del" "0" "02210" "EXT1_000387" "g.118817099_118817102del" "" "{PMID16088908:Pedrini, 2005}" "" "1921_1924delAGCC" "" "Germline" "" "" "0" "" "" "g.117804860_117804863del" "" "likely pathogenic" "" "0000195220" "0" "77" "8" "118817099" "118817102" "dup" "0" "02212" "EXT1_000541" "g.118817099_118817102dup" "" "Pedrini, not yet published" "" "c.1924_1925insAGCC" "" "Unknown" "" "" "0" "" "" "g.117804860_117804863dup" "" "likely pathogenic" "" "0000195221" "0" "77" "8" "118817074" "118817074" "subst" "0" "02152" "EXT1_000429" "g.118817074G>A" "" "{PMID15586175:Vink, 2004}" "" "" "" "Unknown" "" "" "0" "" "" "g.117804835G>A" "" "likely pathogenic" "" "0000195222" "0" "77" "8" "118817068" "118817075" "del" "0" "02212" "EXT1_000542" "g.118817068_118817075del" "" "Pedrini, not yet published" "" "c.1948_1955del(8nt)" "" "Unknown" "" "" "0" "" "" "g.117804829_117804836del" "" "likely pathogenic" "" "0000195223" "0" "77" "8" "118817036" "118817036" "del" "0" "02210" "EXT1_000388" "g.118817036del" "" "{PMID11668521:Gigante, 2001}" "" "1980delG" "" "De novo" "" "" "0" "" "" "g.117804797del" "" "likely pathogenic" "" "0000195224" "0" "77" "8" "118817034" "118817034" "del" "0" "02210" "EXT1_000389" "g.118817034del" "" "{PMID12239711:Hall, 2002}" "" "1982delT" "" "Germline" "" "" "0" "" "" "g.117804795del" "" "likely pathogenic" "" "0000195225" "0" "77" "8" "118816996" "118816996" "subst" "0" "02210" "EXT1_000604" "g.118816996G>A" "" "Jennes, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.117804757G>A" "" "likely pathogenic" "" "0000195226" "0" "77" "8" "118816996" "118816996" "subst" "0" "02215" "EXT1_000658" "g.118816996G>A" "" "Pedrini, not yet published" "" "" "" "Unknown" "" "" "0" "" "" "g.117804757G>A" "" "likely pathogenic" "" "0000195227" "0" "77" "8" "118816996" "118816996" "subst" "0" "02210" "EXT1_000660" "g.118816996G>A" "" "Jennes, not yet published" "" "" "" "Unknown" "" "" "0" "" "" "g.117804757G>A" "" "likely pathogenic" "" "0000195228" "0" "77" "8" "118816995" "118816995" "del" "0" "02210" "EXT1_000617" "g.118816995del" "" "{PMID19344451:Heinritz, 2009}" "" "c.2021delA" "" "Unknown" "" "" "0" "" "" "g.117804756del" "" "likely pathogenic" "" "0000195229" "0" "77" "8" "118816993" "118816993" "subst" "0" "02212" "EXT1_000543" "g.118816993T>A" "" "Pedrini, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.117804754T>A" "" "likely pathogenic" "" "0000195230" "0" "77" "8" "118816987" "118816987" "subst" "0" "02210" "EXT1_000390" "g.118816987G>A" "" "Jennes, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.117804748G>A" "" "likely pathogenic" "" "0000195231" "0" "77" "8" "118816982" "118816982" "subst" "0" "02212" "EXT1_000544" "g.118816982A>C" "" "Pedrini, not yet published" "" "" "" "Unknown" "" "" "0" "" "" "g.117804743A>C" "" "likely pathogenic" "" "0000195232" "0" "77" "8" "118816978" "118816978" "subst" "0" "02212" "EXT1_000545" "g.118816978C>A" "" "Pedrini, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.117804739C>A" "" "likely pathogenic" "" "0000195233" "0" "77" "8" "118816962" "118816966" "delins" "0" "02210" "EXT1_000391" "g.118816962_118816966delins13" "" "{PMID17041877:Lonie, 2006}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000195234" "0" "77" "8" "118816967" "118816967" "del" "0" "02210" "EXT1_000392" "g.118816967del" "" "{PMID18165274:Jennes, 2008}" "" "2051delG" "" "Germline" "" "" "0" "" "" "g.117804728del" "" "likely pathogenic" "" "0000195235" "0" "77" "8" "118816963" "118816963" "subst" "0" "02210" "EXT1_000393" "g.118816963G>A" "" "{PMID9521425:Raskind, 1998}" "" "2704C>T" "" "Germline" "" "" "0" "" "" "g.117804724G>A" "" "likely pathogenic" "" "0000195236" "0" "77" "8" "118816963" "118816963" "subst" "0" "02210" "EXT1_000394" "g.118816963G>A" "" "Jennes, not yet published" "" "2704C>T" "" "Germline" "" "" "0" "" "" "g.117804724G>A" "" "likely pathogenic" "" "0000195237" "0" "77" "8" "118816963" "118816963" "subst" "0" "02210" "EXT1_000395" "g.118816963G>A" "" "Jennes, not yet published" "" "2704C>T" "" "Germline" "" "" "0" "" "" "g.117804724G>A" "" "likely pathogenic" "" "0000195238" "0" "77" "8" "118812117" "118812117" "subst" "0" "02212" "EXT1_000546" "g.118812117C>T" "" "Pedrini, not yet published" "" "" "" "Unknown" "" "" "0" "" "" "g.117799878C>T" "" "likely pathogenic" "" "0000195239" "0" "77" "8" "118812097" "118812109" "del" "0" "02210" "EXT1_000671" "g.118812097_118812109del" "" "Jennes, not yet published" "" "c.2085del13" "" "Unknown" "" "" "0" "" "" "g.117799858_117799870del" "" "likely pathogenic" "" "0000195240" "0" "77" "8" "118812099" "118812100" "del" "0" "02210" "EXT1_000396" "g.118812099_118812100del" "" "{PMID12032595:Li, 2002}" "" "2093delTT" "" "Germline" "" "" "0" "" "" "g.117799860_117799861del" "" "likely pathogenic" "" "0000195241" "0" "77" "8" "118812094" "118812094" "subst" "0" "02210" "EXT1_000397" "g.118812094G>A" "" "{PMID16088908:Pedrini, 2005}" "" "" "" "Germline" "" "" "0" "" "" "g.117799855G>A" "" "likely pathogenic" "" "0000195242" "0" "77" "8" "118812094" "118812094" "subst" "0" "02210" "EXT1_000398" "g.118812094G>A" "" "{PMID17301954:Signori, 2007}" "" "" "" "Unknown" "" "" "0" "" "" "g.117799855G>A" "" "likely pathogenic" "" "0000195243" "0" "77" "8" "118812091" "118812091" "subst" "0" "02210" "EXT1_000399" "g.118812091G>A" "" "{PMID11170095:Seki, 2001}" "" "" "" "Unknown" "" "" "0" "" "" "g.117799852G>A" "" "likely pathogenic" "" "0000195244" "21" "75" "8" "118812091" "118812091" "subst" "0" "02216" "EXT1_000399" "g.118812091G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.117799852G>A" "" "likely pathogenic" "" "0000195245" "0" "77" "8" "118812088" "118812088" "subst" "0" "02210" "EXT1_000400" "g.118812088G>A" "" "Jennes, not yet published" "" "2103C>T" "" "Germline" "" "" "0" "" "" "g.117799849G>A" "" "likely pathogenic" "" "0000195246" "0" "77" "8" "118812072" "118812072" "del" "0" "02210" "EXT1_000401" "g.118812072del" "" "Jennes, not yet published" "" "" "" "Germline" "" "" "0" "" "" "g.117799833del" "" "likely pathogenic" "" "0000195247" "0" "77" "8" "118812049" "118812059" "del" "0" "02210" "EXT1_000694" "g.118812049_118812059del" "" "Jennes, not yet published" "" "" "" "Unknown" "" "" "0" "" "" "g.117799810_117799820del" "" "likely pathogenic" "" "0000195248" "0" "55" "8" "118811817" "118811817" "del" "0" "02210" "EXT1_000003" "g.118811817del" "" "{PMID17041877:Lonie, 2006}" "" "c.*134delA" "3\' UTR deletion (1 bp). The consequence of this change is not predictable." "Unknown" "" "" "0" "" "" "g.117799578del" "" "VUS" "" "0000223729" "0" "77" "8" "0" "0" "" "0" "02210" "EXT1_000724" "g.(118811950_119123286)_qterdelins[NC_000004.11:(107700001_114100000)_qter]" "" "{PMID:Jennes 2008:18165274}" "" "" "" "Germline" "" "" "0" "" "t(4;8)(q25;q24.1)" "" "" "likely pathogenic" "" "0000223730" "11" "77" "8" "0" "0" "" "0" "02210" "EXT1_000725" "g.(119038109-119106577)_qterdelins[NC_000019.9:(35762292_35940346)_qter]" "" "{PMID:Pramparo 2003:14556251}" "" "" "BAC clones RP11-89P19, RP11-260I14, and RP11-2D13 give split signal" "Germline" "yes" "" "0" "" "t(8;19)(q24.11;q13.13)" "" "" "likely pathogenic" "" "0000255529" "0" "90" "8" "118831982" "118831982" "del" "0" "01943" "EXT1_000298" "g.118831982del" "" "" "" "EXT1(NM_000127.2):c.1469delT (p.L490Rfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.117819743del" "" "pathogenic" "" "0000267922" "0" "10" "8" "118819578" "118819578" "subst" "0.407292" "02325" "EXT1_000367" "g.118819578C>T" "" "" "" "EXT1(NM_000127.3):c.1761G>A (p.E587=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.117807339C>T" "" "benign" "" "0000268930" "0" "10" "8" "119123172" "119123172" "subst" "0.00363268" "02329" "EXT1_000740" "g.119123172T>C" "" "" "" "EXT1(NM_000127.2):c.114A>G (p.E38=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118110933T>C" "" "benign" "" "0000268931" "0" "10" "8" "119123169" "119123169" "subst" "0.0015247" "02329" "EXT1_000039" "g.119123169T>C" "" "" "" "EXT1(NM_000127.2):c.117A>G (p.E39=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118110930T>C" "" "benign" "" "0000268932" "0" "10" "8" "118812044" "118812044" "subst" "0.0000691181" "02329" "EXT1_000727" "g.118812044C>T" "" "" "" "EXT1(NM_000127.2):c.2148G>A (p.P716=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.117799805C>T" "" "benign" "" "0000268933" "0" "30" "8" "119122886" "119122886" "subst" "0" "02329" "EXT1_000738" "g.119122886T>C" "" "" "" "EXT1(NM_000127.2):c.400A>G (p.I134V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118110647T>C" "" "likely benign" "" "0000268934" "0" "30" "8" "119122315" "119122318" "del" "0" "02329" "EXT1_000148" "g.119122315_119122318del" "" "" "" "EXT1(NM_000127.2):c.962+8_962+11del (p.(=)), EXT1(NM_000127.2):c.962+8_962+11delTCTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118110076_118110079del" "" "likely benign" "" "0000276429" "0" "90" "8" "118849346" "118849346" "subst" "0" "01943" "EXT1_000202" "g.118849346C>T" "" "" "" "EXT1(NM_000127.2):c.1056+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.117837107C>T" "" "pathogenic" "" "0000276430" "0" "30" "8" "118834762" "118834762" "subst" "0.00048454" "01943" "EXT1_000733" "g.118834762G>A" "" "" "" "EXT1(NM_000127.2):c.1359C>T (p.F453=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.117822523G>A" "" "likely benign" "" "0000276431" "0" "90" "8" "118832034" "118832034" "subst" "0" "01943" "EXT1_000732" "g.118832034C>A" "" "" "" "EXT1(NM_000127.2):c.1418-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.117819795C>A" "" "pathogenic" "" "0000276433" "0" "90" "8" "118830770" "118830770" "subst" "0" "01943" "EXT1_000327" "g.118830770C>G" "" "" "" "EXT1(NM_000127.2):c.1537-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.117818531C>G" "" "pathogenic" "" "0000276434" "0" "90" "8" "118825136" "118825137" "del" "0" "01943" "EXT1_000730" "g.118825136_118825137del" "" "" "" "EXT1(NM_000127.2):c.1697_1698delAG (p.E566Gfs*21)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.117812897_117812898del" "" "pathogenic" "" "0000276435" "0" "90" "8" "118825129" "118825129" "del" "0" "01943" "EXT1_000729" "g.118825129del" "" "" "" "EXT1(NM_000127.2):c.1705delG (p.V569Cfs*52)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.117812890del" "" "pathogenic" "" "0000276436" "0" "90" "8" "118825110" "118825110" "subst" "0" "01943" "EXT1_000359" "g.118825110C>A" "" "" "" "EXT1(NM_000127.2):c.1722+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.117812871C>A" "" "pathogenic" "" "0000276437" "0" "90" "8" "118819569" "118819569" "del" "0" "01943" "EXT1_000368" "g.118819569del" "" "" "" "EXT1(NM_000127.2):c.1773delG (p.Y592Tfs*29)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.117807330del" "" "pathogenic" "" "0000276438" "0" "90" "8" "118817133" "118817133" "subst" "0" "01943" "EXT1_000728" "g.118817133C>G" "" "" "" "EXT1(NM_000127.2):c.1884-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.117804894C>G" "" "pathogenic" "" "0000276439" "0" "90" "8" "119123082" "119123083" "del" "0" "01943" "EXT1_000739" "g.119123082_119123083del" "" "" "" "EXT1(NM_000127.2):c.204_205delGG (p.W68*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118110843_118110844del" "" "pathogenic" "" "0000276440" "0" "90" "8" "118812045" "118812063" "del" "0" "01943" "EXT1_000726" "g.118812045_118812063del" "" "" "" "EXT1(NM_000127.2):c.2133_2151delGTTTGGCTACATGCCGCTG (p.W711*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.117799806_117799824del" "" "pathogenic" "" "0000276441" "0" "90" "8" "119122830" "119122830" "subst" "0" "01943" "EXT1_000737" "g.119122830G>T" "" "" "" "EXT1(NM_000127.2):c.456C>A (p.C152*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118110591G>T" "" "pathogenic" "" "0000276443" "0" "90" "8" "119122608" "119122608" "del" "0" "01943" "EXT1_000107" "g.119122608del" "" "" "" "EXT1(NM_000127.2):c.679delC (p.R227Dfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118110369del" "" "pathogenic" "" "0000276444" "0" "90" "8" "119122569" "119122583" "del" "0" "01943" "EXT1_000109" "g.119122569_119122583del" "" "" "" "EXT1(NM_000127.2):c.703_717delCCCCTCTTTTCTAAG (p.P235_K239del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118110330_118110344del" "" "pathogenic" "" "0000276446" "0" "90" "8" "119122492" "119122499" "del" "0" "01943" "EXT1_000734" "g.119122492_119122499del" "" "" "" "EXT1(NM_000127.2):c.789_796delGCTGGTAT (p.M263Ifs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118110253_118110260del" "" "pathogenic" "" "0000276447" "0" "90" "8" "119122322" "119122325" "del" "0" "01943" "EXT1_000147" "g.119122322_119122325del" "" "" "" "EXT1(NM_000127.2):c.962+3_962+6delAAGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118110083_118110086del" "" "pathogenic" "" "0000345384" "0" "50" "8" "118847739" "118847739" "subst" "0" "02327" "EXT1_000416" "g.118847739C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.117835500C>G" "" "VUS" "" "0000369936" "0" "70" "8" "118834704" "118834704" "del" "0" "01741" "EXT1_000741" "g.118834704del" "" "" "" "1417+1delG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.117822465del" "" "likely pathogenic" "" "0000439899" "0" "90" "8" "119123215" "119123222" "del" "0" "02515" "EXT1_000774" "g.119123215_119123222del" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.118110976_118110983del" "" "pathogenic (dominant)" "" "0000439900" "0" "90" "8" "119123114" "119123114" "del" "0" "02515" "EXT1_000773" "g.119123114del" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.118110875del" "" "pathogenic (dominant)" "" "0000439901" "0" "90" "8" "119123114" "119123114" "del" "0" "02515" "EXT1_000773" "g.119123114del" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.118110875del" "" "pathogenic (dominant)" "" "0000439902" "0" "90" "8" "119123114" "119123114" "del" "0" "02515" "EXT1_000773" "g.119123114del" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.118110875del" "" "pathogenic (dominant)" "" "0000439903" "0" "90" "8" "119123036" "119123036" "subst" "0" "02515" "EXT1_000055" "g.119123036G>A" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.118110797G>A" "" "pathogenic (dominant)" "" "0000439904" "0" "90" "8" "119123036" "119123036" "subst" "0" "02515" "EXT1_000055" "g.119123036G>A" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.118110797G>A" "" "pathogenic (dominant)" "" "0000439905" "0" "90" "8" "119123036" "119123036" "subst" "0" "02515" "EXT1_000055" "g.119123036G>A" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.118110797G>A" "" "pathogenic (dominant)" "" "0000439906" "0" "90" "8" "119123024" "119123024" "dup" "0" "02515" "EXT1_000772" "g.119123024dup" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.118110785dup" "" "pathogenic (dominant)" "" "0000439907" "0" "90" "8" "119122986" "119122986" "del" "0" "02515" "EXT1_000771" "g.119122986del" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.118110747del" "" "pathogenic (dominant)" "" "0000439908" "0" "90" "8" "119122935" "119122935" "subst" "0" "02515" "EXT1_000770" "g.119122935G>C" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.118110696G>C" "" "pathogenic (dominant)" "" "0000439909" "0" "90" "8" "119122935" "119122935" "subst" "0" "02515" "EXT1_000770" "g.119122935G>C" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.118110696G>C" "" "pathogenic (dominant)" "" "0000439910" "0" "90" "8" "119122849" "119122849" "del" "0" "02515" "EXT1_000769" "g.119122849del" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.118110610del" "" "pathogenic (dominant)" "" "0000439911" "0" "90" "8" "119122786" "119122786" "subst" "0" "02515" "EXT1_000078" "g.119122786G>T" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.118110547G>T" "" "pathogenic (dominant)" "" "0000439912" "0" "90" "8" "119122734" "119122734" "subst" "0" "02515" "EXT1_000768" "g.119122734C>T" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.118110495C>T" "" "pathogenic (dominant)" "" "0000439913" "0" "90" "8" "119123226" "119123230" "del" "0" "02515" "EXT1_000775" "g.119123226_119123230del" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.118110987_118110991del" "" "pathogenic (dominant)" "" "0000439914" "0" "90" "8" "119123226" "119123230" "del" "0" "02515" "EXT1_000775" "g.119123226_119123230del" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.118110987_118110991del" "" "pathogenic (dominant)" "" "0000439915" "0" "90" "8" "119122686" "119122686" "subst" "0" "02515" "EXT1_000094" "g.119122686C>T" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.118110447C>T" "" "pathogenic (dominant)" "" "0000439916" "0" "90" "8" "119122666" "119122666" "del" "0" "02515" "EXT1_000767" "g.119122666del" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.118110427del" "" "pathogenic (dominant)" "" "0000439917" "0" "90" "8" "119122666" "119122666" "del" "0" "02515" "EXT1_000767" "g.119122666del" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.118110427del" "" "pathogenic (dominant)" "" "0000439918" "0" "90" "8" "119122649" "119122649" "subst" "0" "02515" "EXT1_000766" "g.119122649G>A" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.118110410G>A" "" "pathogenic (dominant)" "" "0000439919" "0" "90" "8" "119122544" "119122544" "del" "0" "02515" "EXT1_000634" "g.119122544del" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.118110305del" "" "pathogenic (dominant)" "" "0000439920" "0" "90" "8" "119122538" "119122538" "del" "0" "02515" "EXT1_000590" "g.119122538del" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.118110299del" "" "pathogenic (dominant)" "" "0000439921" "0" "90" "8" "119122489" "119122490" "delins" "0" "02515" "EXT1_000765" "g.119122489_119122490delinsN[?]" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439922" "0" "90" "8" "119122479" "119122480" "delins" "0" "02515" "EXT1_000764" "g.119122479_119122480delinsN[?]" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439923" "0" "90" "8" "119122478" "119122478" "subst" "0" "02515" "EXT1_000454" "g.119122478T>A" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.118110239T>A" "" "pathogenic (dominant)" "" "0000439924" "0" "90" "8" "119122448" "119122448" "subst" "0" "02515" "EXT1_000131" "g.119122448T>C" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.118110209T>C" "" "pathogenic (dominant)" "" "0000439925" "0" "90" "8" "119122345" "119122346" "del" "0" "02515" "EXT1_000139" "g.119122345_119122346del" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.118110106_118110107del" "" "pathogenic (dominant)" "" "0000439926" "0" "90" "8" "119122323" "119124058" "del" "0" "02515" "EXT1_000742" "g.(118849441_119122323)_(119124058_?)del" "" "{PMID:Fusco 2019:3080666}" "" "c. (?-1)_(962+ 1_963-1)del" "" "Germline" "" "" "0" "" "" "g.(117837202_118110084)_(118111819_?)del" "" "pathogenic (dominant)" "" "0000439927" "0" "90" "8" "118849437" "118849437" "subst" "0" "02515" "EXT1_000154" "g.118849437A>C" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.117837198A>C" "" "pathogenic (dominant)" "" "0000439928" "0" "90" "8" "118849385" "118849385" "subst" "0" "02515" "EXT1_000162" "g.118849385G>A" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.117837146G>A" "" "pathogenic (dominant)" "" "0000439929" "0" "90" "8" "118849384" "118849384" "subst" "0.00000406663" "02515" "EXT1_000175" "g.118849384C>T" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.117837145C>T" "" "pathogenic (dominant)" "" "0000439930" "0" "90" "8" "118849384" "118849384" "subst" "0.00000406663" "02515" "EXT1_000175" "g.118849384C>T" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.117837145C>T" "" "pathogenic (dominant)" "" "0000439931" "0" "90" "8" "118849384" "118849384" "subst" "0.00000406663" "02515" "EXT1_000175" "g.118849384C>T" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.117837145C>T" "" "pathogenic (dominant)" "" "0000439932" "0" "90" "8" "118849384" "118849384" "subst" "0.00000406663" "02515" "EXT1_000175" "g.118849384C>T" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.117837145C>T" "" "pathogenic (dominant)" "" "0000439933" "0" "90" "8" "118849372" "118849372" "subst" "0" "02515" "EXT1_000763" "g.118849372G>A" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.117837133G>A" "" "pathogenic (dominant)" "" "0000439934" "0" "90" "8" "118847783" "118847783" "subst" "0" "02515" "EXT1_000762" "g.118847783C>A" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.117835544C>A" "" "pathogenic (dominant)" "" "0000439935" "0" "90" "8" "118847782" "118847782" "subst" "0" "02515" "EXT1_000761" "g.118847782G>T" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.117835543G>T" "" "pathogenic (dominant)" "" "0000439936" "0" "90" "8" "118847782" "118847782" "subst" "0" "02515" "EXT1_000761" "g.118847782G>T" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.117835543G>T" "" "pathogenic (dominant)" "" "0000439937" "0" "90" "8" "118847756" "118847756" "subst" "0" "02515" "EXT1_000760" "g.118847756C>T" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.117835517C>T" "" "pathogenic (dominant)" "" "0000439938" "0" "90" "8" "118847756" "118847756" "subst" "0" "02515" "EXT1_000760" "g.118847756C>T" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.117835517C>T" "" "pathogenic (dominant)" "" "0000439939" "0" "90" "8" "118847688" "118847688" "del" "0" "02515" "EXT1_000759" "g.118847688del" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.117835449del" "" "pathogenic (dominant)" "" "0000439940" "0" "90" "8" "118847685" "118847685" "subst" "0" "02515" "EXT1_000218" "g.118847685G>A" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.117835446G>A" "" "pathogenic (dominant)" "" "0000439941" "0" "90" "8" "118847682" "118847682" "subst" "0" "02515" "EXT1_000758" "g.118847682C>T" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.117835443C>T" "" "pathogenic (dominant)" "" "0000439942" "0" "90" "8" "118842540" "118842540" "subst" "0" "02515" "EXT1_000229" "g.118842540T>A" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.117830301T>A" "" "pathogenic (dominant)" "" "0000439943" "0" "90" "8" "118842476" "118842477" "del" "0" "02515" "EXT1_000757" "g.118842476_118842477del" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.117830237_117830238del" "" "pathogenic (dominant)" "" "0000439944" "11" "90" "8" "118842468" "118842468" "subst" "0" "02515" "EXT1_000247" "g.118842468C>A" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.117830229C>A" "" "pathogenic (dominant)" "" "0000439945" "0" "90" "8" "118842468" "118842468" "subst" "0" "02515" "EXT1_000756" "g.118842468C>T" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.117830229C>T" "" "pathogenic (dominant)" "" "0000439946" "0" "90" "8" "118834838" "118834838" "subst" "0" "02515" "EXT1_000755" "g.118834838T>C" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.117822599T>C" "" "pathogenic (dominant)" "" "0000439947" "0" "90" "8" "118834805" "118834805" "subst" "0" "02515" "EXT1_000754" "g.118834805G>C" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.117822566G>C" "" "pathogenic (dominant)" "" "0000439948" "0" "90" "8" "118834786" "118834786" "subst" "0" "02515" "EXT1_000753" "g.118834786C>T" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.117822547C>T" "" "pathogenic (dominant)" "" "0000439949" "0" "90" "8" "118834786" "118834786" "subst" "0" "02515" "EXT1_000753" "g.118834786C>T" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.117822547C>T" "" "pathogenic (dominant)" "" "0000439950" "0" "90" "8" "118834724" "118834727" "del" "0" "02515" "EXT1_000752" "g.118834724_118834727del" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.117822485_117822488del" "" "pathogenic (dominant)" "" "0000439951" "0" "90" "8" "118832035" "118832035" "subst" "0" "02515" "EXT1_000276" "g.118832035T>C" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.117819796T>C" "" "pathogenic (dominant)" "" "0000439952" "0" "90" "8" "118832026" "118832026" "del" "0" "02515" "EXT1_000510" "g.118832026del" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.117819787del" "" "pathogenic (dominant)" "" "0000439953" "0" "90" "8" "118832026" "118832026" "del" "0" "02515" "EXT1_000510" "g.118832026del" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.117819787del" "" "pathogenic (dominant)" "" "0000439954" "0" "90" "8" "118831982" "118831982" "del" "0" "02515" "EXT1_000298" "g.118831982del" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.117819743del" "" "pathogenic (dominant)" "" "0000439955" "0" "90" "8" "118831968" "118831968" "subst" "0" "02515" "EXT1_000691" "g.118831968G>A" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.117819729G>A" "" "pathogenic (dominant)" "" "0000439956" "0" "90" "8" "118831961" "118831961" "del" "0" "02515" "EXT1_000751" "g.118831961del" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.117819722del" "" "pathogenic (dominant)" "" "0000439957" "0" "90" "8" "118831929" "118831929" "subst" "0" "02515" "EXT1_000666" "g.118831929G>A" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.117819690G>A" "" "pathogenic (dominant)" "" "0000439958" "0" "90" "8" "118831914" "118831914" "subst" "0" "02515" "EXT1_000324" "g.118831914C>A" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.117819675C>A" "" "pathogenic (dominant)" "" "0000439959" "0" "90" "8" "118830770" "118830770" "subst" "0" "02515" "EXT1_000328" "g.118830770C>A" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.117818531C>A" "" "pathogenic (dominant)" "" "0000439960" "0" "90" "8" "118830771" "118830771" "subst" "0" "02515" "EXT1_000750" "g.118830771T>A" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.117818532T>A" "" "pathogenic (dominant)" "" "0000439961" "0" "90" "8" "118825202" "118825202" "subst" "0" "02515" "EXT1_000749" "g.118825202T>A" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.117812963T>A" "" "pathogenic (dominant)" "" "0000439962" "0" "90" "8" "118825191" "118825191" "del" "0" "02515" "EXT1_000343" "g.118825191del" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.117812952del" "" "pathogenic (dominant)" "" "0000439963" "0" "90" "8" "118825120" "118825120" "del" "0" "02515" "EXT1_000357" "g.118825120del" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.117812881del" "" "pathogenic (dominant)" "" "0000439964" "0" "90" "8" "118825120" "118825120" "del" "0" "02515" "EXT1_000357" "g.118825120del" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.117812881del" "" "pathogenic (dominant)" "" "0000439965" "0" "90" "8" "118819593" "118819593" "subst" "0" "02515" "EXT1_000366" "g.118819593C>T" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.117807354C>T" "" "pathogenic (dominant)" "" "0000439966" "0" "90" "8" "118819581" "118819582" "del" "0" "02515" "EXT1_000748" "g.118819581_118819582del" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.117807342_117807343del" "" "pathogenic (dominant)" "" "0000439967" "0" "90" "8" "118819580" "118819580" "subst" "0" "02515" "EXT1_000747" "g.118819580C>A" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.117807341C>A" "" "pathogenic (dominant)" "" "0000439968" "0" "90" "8" "118819542" "118819542" "subst" "0" "02515" "EXT1_000372" "g.118819542C>T" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.117807303C>T" "" "pathogenic (dominant)" "" "0000439969" "0" "90" "8" "118819499" "118819499" "del" "0" "02515" "EXT1_000746" "g.118819499del" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.117807260del" "" "pathogenic (dominant)" "" "0000439970" "0" "90" "8" "118817094" "118817095" "ins" "0" "02515" "EXT1_000745" "g.118817094_118817095insGGCT" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.117804855_117804856insGGCT" "" "pathogenic (dominant)" "" "0000439971" "0" "90" "8" "118817074" "118817074" "subst" "0" "02515" "EXT1_000429" "g.118817074G>A" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.117804835G>A" "" "pathogenic (dominant)" "" "0000439972" "0" "90" "8" "118812123" "118812123" "dup" "0" "02515" "EXT1_000744" "g.118812123dup" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.117799884dup" "" "pathogenic (dominant)" "" "0000439973" "0" "90" "8" "118812094" "118812094" "subst" "0" "02515" "EXT1_000397" "g.118812094G>A" "" "{PMID:Fusco 2019:3080666}" "" "" "" "Germline" "" "" "0" "" "" "g.117799855G>A" "" "pathogenic (dominant)" "" "0000439974" "0" "90" "8" "118811602" "119124058" "del" "0" "02515" "EXT1_000743" "g.(?_118811602)_(119124058_?)del" "" "{PMID:Fusco 2019:3080666}" "" "c. (?-1)_(*1_?)del" "" "Germline" "" "" "0" "" "" "g.(?_117799363)_(118111819_?)del" "" "pathogenic (dominant)" "" "0000472715" "0" "50" "8" "118847718" "118847718" "subst" "0" "01741" "EXT1_000776" "g.118847718C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.117835479C>T" "" "VUS" "" "0000533679" "0" "50" "8" "118812019" "118812019" "subst" "0.00000406507" "01804" "EXT1_000777" "g.118812019C>T" "" "" "" "EXT1(NM_000127.2):c.2173G>A (p.(Asp725Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.117799780C>T" "" "VUS" "" "0000533680" "0" "30" "8" "118825159" "118825159" "subst" "0.0000691968" "01943" "EXT1_000778" "g.118825159T>C" "" "" "" "EXT1(NM_000127.2):c.1674A>G (p.T558=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.117812920T>C" "" "likely benign" "" "0000533681" "0" "30" "8" "118825174" "118825174" "subst" "0.0000285153" "01943" "EXT1_000779" "g.118825174G>A" "" "" "" "EXT1(NM_000127.2):c.1659C>T (p.Y553=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.117812935G>A" "" "likely benign" "" "0000533682" "0" "90" "8" "118831978" "118831979" "del" "0" "02327" "EXT1_000317" "g.118831978_118831979del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.117819739_117819740del" "" "pathogenic" "" "0000533683" "0" "90" "8" "118831988" "118831988" "dup" "0" "01943" "EXT1_000292" "g.118831988dup" "" "" "" "EXT1(NM_000127.2):c.1468dupC (p.L490Pfs*31)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.117819749dup" "" "pathogenic" "" "0000533684" "0" "30" "8" "119122315" "119122318" "del" "0" "01804" "EXT1_000148" "g.119122315_119122318del" "" "" "" "EXT1(NM_000127.2):c.962+8_962+11del (p.(=)), EXT1(NM_000127.2):c.962+8_962+11delTCTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118110076_118110079del" "" "likely benign" "" "0000533685" "0" "90" "8" "119122463" "119122468" "delins" "0" "01943" "EXT1_000780" "g.119122463_119122468delinsGCCTT" "" "" "" "EXT1(NM_000127.2):c.818_823delCAGGGAinsAAGGC (p.T273Kfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118110224_118110229delinsGCCTT" "" "pathogenic" "" "0000533686" "0" "90" "8" "119122546" "119122547" "dup" "0" "01943" "EXT1_000781" "g.119122546_119122547dup" "" "" "" "EXT1(NM_000127.2):c.742_743dupAG (p.F250Gfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118110307_118110308dup" "" "pathogenic" "" "0000533687" "0" "90" "8" "119122663" "119122667" "dup" "0" "01943" "EXT1_000782" "g.119122663_119122667dup" "" "" "" "EXT1(NM_000127.2):c.619_623dupGGGGT (p.F209Wfs*45)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118110424_118110428dup" "" "pathogenic" "" "0000533688" "0" "30" "8" "119122868" "119122868" "subst" "0" "01804" "EXT1_000783" "g.119122868C>T" "" "" "" "EXT1(NM_000127.2):c.418G>A (p.(Gly140Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118110629C>T" "" "likely benign" "" "0000533689" "0" "90" "8" "119123227" "119123230" "del" "0" "01943" "EXT1_000784" "g.119123227_119123230del" "" "" "" "EXT1(NM_000127.2):c.56_59delTTTT (p.L19Rfs*116)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118110988_118110991del" "" "pathogenic" "" "0000611421" "0" "50" "8" "119123281" "119123281" "subst" "0" "01804" "EXT1_000785" "g.119123281T>C" "" "" "" "EXT1(NM_000127.2):c.5A>G (p.(Gln2Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118111042T>C" "" "VUS" "" "0000621986" "0" "30" "8" "118830697" "118830697" "subst" "0.00012189" "01943" "EXT1_000525" "g.118830697C>T" "" "" "" "EXT1(NM_000127.2):c.1609G>A (p.V537I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.117818458C>T" "" "likely benign" "" "0000621987" "0" "30" "8" "118847781" "118847781" "subst" "0.000231877" "01943" "EXT1_000211" "g.118847781C>T" "" "" "" "EXT1(NM_000127.2):c.1066G>A (p.V356I), EXT1(NM_000127.3):c.1066G>A (p.V356I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.117835542C>T" "" "likely benign" "" "0000659581" "0" "90" "8" "118825110" "118825110" "subst" "0" "01164" "EXT1_000359" "g.118825110C>A" "" "" "" "" "ACMG: PVS1,PM2" "Germline" "" "" "0" "" "" "g.117812871C>A" "" "pathogenic" "ACMG" "0000675376" "0" "90" "8" "118816960" "118830770" "del" "0" "01741" "EXT1_000787" "g.(118812137_118816960)_(118830770_118831914)del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "" "0000682779" "0" "10" "8" "118819578" "118819578" "subst" "0.407292" "00006" "EXT1_000367" "g.118819578C>T" "" "{PMID:Chen 2020:32678989}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000682780" "1" "90" "8" "118817114" "118817114" "subst" "0" "00006" "EXT1_000786" "g.118817114G>T" "" "{PMID:Cao 2014:24297320}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000682781" "1" "10" "8" "118847782" "118847782" "subst" "0.264416" "00006" "EXT1_000210" "g.118847782G>A" "" "{PMID:Cao 2014:24297320}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000683272" "0" "70" "8" "118842494" "118842494" "del" "0" "01164" "EXT1_000788" "g.118842494del" "" "" "" "" "ACMG grading: PVS1,PM2" "Germline" "" "" "0" "" "" "g.117830255del" "" "likely pathogenic" "ACMG" "0000690147" "0" "30" "8" "119123178" "119123178" "subst" "0" "01943" "EXT1_000789" "g.119123178C>T" "" "" "" "EXT1(NM_000127.2):c.108G>A (p.R36=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721775" "0" "30" "8" "119122949" "119122949" "subst" "0.0000365456" "01804" "EXT1_000791" "g.119122949C>T" "" "" "" "EXT1(NM_000127.2):c.337G>A (p.(Gly113Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721776" "0" "50" "8" "119123278" "119123278" "subst" "0" "01804" "EXT1_000792" "g.119123278G>A" "" "" "" "EXT1(NM_000127.2):c.8C>T (p.(Ala3Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729931" "1" "90" "8" "118812060" "118812060" "subst" "0" "00000" "EXT1_000790" "g.118812060C>T" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_000127.2:c.2132G>A:p.(Trp711*)" "" "Germline" "" "" "0" "" "" "g.117799821C>T" "" "likely pathogenic (dominant)" "" "0000731295" "1" "90" "8" "118849388" "118849388" "subst" "0" "00006" "EXT1_000795" "g.118849388C>T" "" "{PMID:Tong 2021:33596140}" "" "" "" "De novo" "" "" "0" "" "" "g.117837149C>T" "" "pathogenic (dominant)" "" "0000731297" "1" "90" "8" "118819602" "118819603" "del" "0" "00006" "EXT1_000793" "g.118819602_118819603del" "" "{PMID:Tong 2021:33596140}" "" "" "" "Germline" "" "" "0" "" "" "g.117807363_117807364del" "" "pathogenic (dominant)" "" "0000731298" "1" "90" "8" "118825199" "118825199" "subst" "0" "00006" "EXT1_000794" "g.118825199A>T" "" "{PMID:Tong 2021:33596140}" "" "" "" "Germline" "" "" "0" "" "" "g.117812960A>T" "" "pathogenic (dominant)" "" "0000798382" "0" "70" "8" "118834703" "118834703" "subst" "0" "04167" "EXT1_000797" "g.118834703C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000803429" "0" "30" "8" "119123072" "119123072" "subst" "0.0000772414" "01804" "EXT1_000585" "g.119123072C>T" "" "" "" "EXT1(NM_000127.2):c.214G>A (p.(Glu72Lys)), EXT1(NM_000127.3):c.214G>A (p.E72K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803430" "0" "50" "8" "119123072" "119123072" "subst" "0.0000772414" "02325" "EXT1_000585" "g.119123072C>T" "" "" "" "EXT1(NM_000127.2):c.214G>A (p.(Glu72Lys)), EXT1(NM_000127.3):c.214G>A (p.E72K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803431" "0" "30" "8" "119123164" "119123164" "subst" "0.000113835" "01943" "EXT1_000041" "g.119123164C>T" "" "" "" "EXT1(NM_000127.2):c.122G>A (p.S41N), EXT1(NM_000127.3):c.122G>A (p.S41N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851787" "0" "30" "8" "118830674" "118830674" "subst" "0" "02325" "EXT1_000799" "g.118830674C>T" "" "" "" "EXT1(NM_000127.3):c.1632G>A (p.K544=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851788" "0" "10" "8" "118832020" "118832020" "subst" "0.177832" "02326" "EXT1_000280" "g.118832020G>A" "" "" "" "EXT1(NM_000127.2):c.1431C>T (p.P477=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851789" "0" "10" "8" "118847782" "118847782" "subst" "0.264416" "02326" "EXT1_000210" "g.118847782G>A" "" "" "" "EXT1(NM_000127.2):c.1065C>T (p.C355=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861051" "0" "90" "8" "118812091" "118812091" "subst" "0" "02327" "EXT1_000399" "g.118812091G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000861053" "0" "70" "8" "119123177" "119123177" "subst" "0" "01804" "EXT1_000800" "g.119123177T>A" "" "" "" "EXT1(NM_000127.2):c.109A>T (p.(Arg37*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000873509" "0" "70" "8" "119122329" "119122329" "subst" "0" "00000" "EXT1_000801" "g.119122329A>C" "150" "{PMID:Sun 2018:30076350}" "" "EXT1 (NM_000127.2):c.957T>G(p.Y319*)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.118110090A>C" "" "likely pathogenic" "" "0000888139" "0" "30" "8" "118825173" "118825173" "subst" "0.00000407282" "01804" "EXT1_000802" "g.118825173C>T" "" "" "" "EXT1(NM_000127.2):c.1660G>A (p.(Asp554Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888140" "0" "30" "8" "118832021" "118832021" "subst" "0.0000732851" "01804" "EXT1_000803" "g.118832021G>C" "" "" "" "EXT1(NM_000127.2):c.1430C>G (p.(Pro477Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888141" "0" "30" "8" "118847781" "118847781" "subst" "0.000231877" "02325" "EXT1_000211" "g.118847781C>T" "" "" "" "EXT1(NM_000127.2):c.1066G>A (p.V356I), EXT1(NM_000127.3):c.1066G>A (p.V356I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888142" "0" "90" "8" "118849372" "118849375" "del" "0" "02327" "EXT1_000804" "g.118849372_118849375del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000909178" "0" "70" "7" "133041083" "133059757" "del" "0" "00006" "EXT1_000001" "g.(133031084_133041083)_(133059757_133079756)del" "" "{PMID:Lansdon 2023:36493769}, {DOI:Lansdon 2023:10.1016/j.ajhg.2022.11.012}" "" "" "variant estimated from figure; reported as candidate gene involved in cleft lip with/without cleft palate" "Germline/De novo (untested)" "" "" "0" "" "" "g.(133346330_133356329)_(133375003_133395002)del" "" "likely pathogenic" "" "0000909179" "0" "70" "7" "133502077" "133812544" "del" "0" "00006" "EXT1_000002" "g.(133492078_133502077)_(133812544_?)del" "" "{PMID:Lansdon 2023:36493769}, {DOI:Lansdon 2023:10.1016/j.ajhg.2022.11.012}" "" "" "variant estimated from figure, non-contiguous deletion includes LRGUK, interrupted by small non-deleted LRGUK-segment; reported as candidate gene involved in cleft lip with/without cleft palate" "Germline/De novo (untested)" "" "" "0" "" "" "g.(133807325_133817324)_(134127791_?)del" "" "likely pathogenic" "" "0000909180" "0" "70" "7" "133502077" "133812544" "del" "0" "00006" "EXT1_000002" "g.(133492078_133502077)_(133812544_?)del" "" "{PMID:Lansdon 2023:36493769}, {DOI:Lansdon 2023:10.1016/j.ajhg.2022.11.012}" "" "" "variant estimated from figure, non-contiguous deletion includes LRGUK, interrupted by small non-deleted LRGUK-segment; reported as candidate gene involved in cleft lip with/without cleft palate" "Germline/De novo (untested)" "" "" "0" "" "" "g.(133807325_133817324)_(134127791_?)del" "" "likely pathogenic" "" "0000922157" "0" "90" "8" "118842590" "118842590" "subst" "0" "01741" "EXT1_000805" "g.118842590T>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.117830351T>C" "" "pathogenic" "" "0000922782" "0" "90" "8" "118831993" "118831993" "del" "0" "03779" "EXT1_000720" "g.118831993del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000924819" "0" "30" "8" "119123164" "119123164" "subst" "0.000113835" "02325" "EXT1_000041" "g.119123164C>T" "" "" "" "EXT1(NM_000127.2):c.122G>A (p.S41N), EXT1(NM_000127.3):c.122G>A (p.S41N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927510" "0" "90" "8" "118831997" "118831998" "del" "0" "03779" "EXT1_000806" "g.118831997_118831998del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000931618" "0" "90" "8" "118825174" "118825174" "subst" "0" "03779" "EXT1_000348" "g.118825174G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000931626" "0" "90" "8" "118817129" "118817129" "subst" "0" "03779" "EXT1_000807" "g.118817129A>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000933291" "0" "90" "8" "119122543" "119122543" "dup" "0" "03779" "EXT1_000808" "g.119122543dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes EXT1 ## Count = 870 "{{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}}" "0000130513" "00007320" "50" "1280" "0" "1280" "0" "c.1280T>G" "r.(?)" "p.(Leu427Arg)" "4" "0000167144" "00007320" "70" "1056" "2" "1056" "2" "c.1056+2T>C" "r.spl?" "p.?" "2i" "0000170458" "00007320" "90" "702" "0" "702" "0" "c.702del" "r.(?)" "p.(Leu236Serfs*16)" "1" "0000194531" "00007320" "77" "-773" "0" "2590" "0" "c.(?_-773)_(*349_?)del" "r.?" "p.?" "1_11" "0000194532" "00007320" "77" "-773" "0" "2590" "0" "c.(?_-773)_(*349_?)del" "r.?" "p.?" "1_11" "0000194533" "00007320" "77" "-773" "0" "2590" "0" "c.(?_-773)_(*349_?)del" "r.?" "p.?" "1_11" "0000194534" "00007320" "77" "-773" "0" "2590" "0" "c.(?_-773)_(*349_?)del" "r.?" "p.?" "1_11" "0000194535" "00007320" "77" "-773" "0" "962" "1" "c.(?_-773)_(962+1_963-1)del" "r.spl?" "p.?" "1" "0000194536" "00007320" "77" "-773" "0" "962" "1" "c.(?_-773)_(962+1_963-1)del" "r.spl?" "p.?" "1" "0000194537" "00007320" "77" "963" "-1" "1164" "1" "c.(962+1_963-1)_(1164+1_1165-1)del" "r.spl?" "p.?" "2_3" "0000194538" "00007320" "77" "963" "-1" "1164" "1" "c.(962+1_963-1)_(1164+1_1165-1)del" "r.spl?" "p.?" "2_3" "0000194539" "00007320" "77" "963" "-1" "2590" "0" "c.(962+1_963-1)_(*349_?)del" "r.?" "p.?" "2_11" "0000194540" "00007320" "77" "963" "-1" "2590" "0" "c.(962+1_963-1)_(*349_?)del" "r.?" "p.?" "2_11" "0000194541" "00007320" "77" "1418" "-1" "1632" "1" "c.(1417+1_1418-1)_(1632+1_1633-1)del" "r.spl?" "p.?" "6_7" "0000194542" "00007320" "77" "1633" "-1" "1722" "1" "c.(1632+1_1633-1)_(1722+1_1723-1)del" "r.spl?" "p.?" "8" "0000194546" "00007320" "11" "-776" "0" "-776" "0" "c.-776T>C" "r.spl?" "p.?" "1" "0000194547" "00007320" "11" "-773" "-511" "-773" "-511" "c.-773-511G>C" "r.(=)" "p.(=)" "1" "0000194548" "00007320" "11" "-773" "-385" "-773" "-385" "c.-773-385G>C" "r.(=)" "p.(=)" "1" "0000194549" "00007320" "11" "-773" "-292" "-773" "-292" "c.-773-292G>A" "r.(=)" "p.(=)" "1" "0000194550" "00007320" "77" "-773" "0" "962" "1" "c.(?_-773)_(962+1_963-1)del" "r.spl?" "p.?" "1" "0000194551" "00007320" "77" "-773" "0" "962" "1" "c.(?_-773)_(962+1_963-1)del" "r.spl?" "p.?" "1" "0000194552" "00007320" "77" "-773" "0" "962" "1" "c.(?_-773)_(962+1_963-1)del" "r.spl?" "p.?" "1" "0000194553" "00007320" "77" "-773" "0" "1164" "1" "c.(?_-773)_(1164+1_1165-1)del" "r.spl?" "p.?" "1_3" "0000194554" "00007320" "77" "-773" "0" "962" "1" "c.(?_-773)_(962+1_963-1)del" "r.spl?" "p.?" "1" "0000194555" "00007320" "77" "-773" "0" "962" "1" "c.(?_-773)_(962+1_963-1)del" "r.spl?" "p.?" "1" "0000194556" "00007320" "99" "-773" "0" "2590" "0" "c.(?_-773)_(*349_?)del" "r.?" "p.?" "1_11" "0000194557" "00007320" "77" "-773" "0" "2590" "0" "c.(?_-773)_(*349_?)del" "r.?" "p.?" "1_11" "0000194558" "00007320" "77" "2056" "-1" "2590" "0" "c.(2055+1_2056-1)_(*349_?)del" "r.(?)" "p.(Thr686_Arg745delinsLeuCysTrp)" "11" "0000194559" "00007320" "77" "963" "-1" "2590" "0" "c.(962+1_963-1)_(*349_?)del" "r.?" "p.?" "2_11" "0000194560" "00007320" "77" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "1" "0000194561" "00007320" "77" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.(Met1?)" "1" "0000194562" "00007320" "77" "2" "0" "2" "0" "c.2T>A" "r.(?)" "p.(Met1?)" "1" "0000194563" "00007320" "77" "2" "0" "2" "0" "c.2T>A" "r.(?)" "p.(Met1?)" "1" "0000194564" "00007320" "99" "4" "0" "4" "0" "c.4C>T" "r.(?)" "p.(Gln2*)" "1" "0000194565" "00007320" "77" "15" "0" "15" "0" "c.15dup" "r.(?)" "p.(Arg6Thrfs*24)" "1" "0000194566" "00007320" "77" "15" "0" "15" "0" "c.15dup" "r.(?)" "p.(Arg6Thrfs*24)" "1" "0000194567" "00007320" "77" "28" "0" "28" "0" "c.28del" "r.(?)" "p.(Leu10Cysfs*126)" "1" "0000194568" "00007320" "77" "37" "0" "37" "0" "c.37del" "r.(?)" "p.(Ala13Leufs*123)" "1" "0000194569" "00007320" "77" "41" "0" "41" "0" "c.41del" "r.(?)" "p.(Gly14Alafs*122)" "1" "0000194570" "00007320" "77" "45" "0" "46" "0" "c.45_46del" "r.(?)" "p.(Cys16Serfs*13)" "1" "0000194571" "00007320" "77" "45" "0" "46" "0" "c.45_46del" "r.(?)" "p.(Cys16Serfs*13)" "1" "0000194572" "00007320" "77" "50" "0" "50" "0" "c.50dup" "r.(?)" "p.(Ala18Argfs*12)" "1" "0000194573" "00007320" "77" "64" "0" "64" "0" "c.64del" "r.(?)" "p.(Tyr22Ilefs*114)" "1" "0000194574" "00007320" "77" "68" "0" "68" "0" "c.68del" "r.(?)" "p.(Phe23Serfs*113)" "1" "0000194575" "00007320" "77" "82" "0" "86" "0" "c.82_86del" "r.(?)" "p.(Phe28Glyfs*14)" "1" "0000194576" "00007320" "77" "88" "0" "88" "0" "c.88del" "r.(?)" "p.(Ala30Hisfs*106)" "1" "0000194577" "00007320" "77" "88" "0" "88" "0" "c.88del" "r.(?)" "p.(Ala30Hisfs*106)" "1" "0000194578" "00007320" "77" "92" "0" "92" "0" "c.92del" "r.(?)" "p.(Ser31*)" "1" "0000194579" "00007320" "77" "114" "0" "115" "0" "c.114_115insTT" "r.(?)" "p.(Glu39Leufs*98)" "1" "0000194580" "00007320" "77" "115" "0" "115" "0" "c.115del" "r.(?)" "p.(Glu39Asnfs*97)" "1" "0000194581" "00007320" "77" "115" "0" "115" "0" "c.115G>T" "r.(?)" "p.(Glu39*)" "1" "0000194582" "00007320" "77" "115" "0" "115" "0" "c.115G>T" "r.(?)" "p.(Glu39*)" "1" "0000194583" "00007320" "11" "117" "0" "117" "0" "c.117A>G" "r.(=)" "p.(=)" "1" "0000194584" "00007320" "77" "118" "0" "118" "0" "c.118del" "r.(?)" "p.(His40Thrfs*96)" "1" "0000194585" "00007320" "77" "120" "0" "121" "0" "c.120_121del" "r.(?)" "p.(His40Glnfs*3)" "1" "0000194586" "00007320" "11" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Ser41Asn)" "1" "0000194587" "00007320" "77" "142" "0" "143" "0" "c.142_143insCCCGCACC" "r.(?)" "p.(His48Profs*91)" "1" "0000194588" "00007320" "77" "142" "0" "142" "0" "c.142del" "r.(?)" "p.(His48Thrfs*88)" "1" "0000194589" "00007320" "77" "176" "0" "176" "0" "c.176del" "r.(?)" "p.(Pro59Argfs*77)" "1" "0000194590" "00007320" "77" "180" "0" "180" "0" "c.180del" "r.(?)" "p.(Asp60Glufs*76)" "1" "0000194591" "00007320" "77" "182" "0" "182" "0" "c.182del" "r.(?)" "p.(Ala61Valfs*75)" "1" "0000194592" "00007320" "77" "182" "0" "182" "0" "c.182del" "r.(?)" "p.(Ala61Valfs*75)" "1" "0000194593" "00007320" "77" "188" "0" "189" "0" "c.188_189insT" "r.(?)" "p.(Phe65Leufs*124)" "1" "0000194594" "00007320" "77" "196" "0" "196" "0" "c.196del" "r.(?)" "p.(Val66Phefs*70)" "1" "0000194595" "00007320" "77" "204" "0" "204" "0" "c.204G>A" "r.(?)" "p.(Trp68*)" "1" "0000194596" "00007320" "77" "204" "0" "204" "0" "c.204G>A" "r.(?)" "p.(Trp68*)" "1" "0000194597" "00007320" "77" "214" "0" "214" "0" "c.214G>T" "r.(?)" "p.(Glu72*)" "1" "0000194598" "00007320" "77" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Glu72Lys)" "1" "0000194599" "00007320" "77" "218" "0" "218" "0" "c.218del" "r.(?)" "p.(Asn73Thrfs*63)" "1" "0000194600" "00007320" "77" "218" "0" "218" "0" "c.218del" "r.(?)" "p.(Asn73Thrfs*63)" "1" "0000194601" "00007320" "77" "238" "0" "238" "0" "c.238del" "r.(?)" "p.(Ile80Phefs*56)" "1" "0000194602" "00007320" "77" "238" "0" "238" "0" "c.238del" "r.(?)" "p.(Ile80Phefs*56)" "1" "0000194603" "00007320" "77" "241" "0" "241" "0" "c.241del" "r.(?)" "p.(Ser81Profs*55)" "1" "0000194604" "00007320" "77" "247" "0" "247" "0" "c.247del" "r.(?)" "p.(Arg83Glyfs*53)" "1" "0000194605" "00007320" "77" "247" "0" "247" "0" "c.247del" "r.(?)" "p.(Arg83Glyfs*53)" "1" "0000194606" "00007320" "77" "247" "0" "247" "0" "c.247del" "r.(?)" "p.(Arg83Glyfs*53)" "1" "0000194607" "00007320" "77" "247" "0" "247" "0" "c.247dup" "r.(?)" "p.(Arg83Profs*106)" "1" "0000194608" "00007320" "77" "247" "0" "247" "0" "c.247dup" "r.(?)" "p.(Arg83Profs*106)" "1" "0000194609" "00007320" "77" "247" "0" "247" "0" "c.247dup" "r.(?)" "p.(Arg83Profs*106)" "1" "0000194610" "00007320" "77" "248" "0" "249" "0" "c.248_249insC" "r.(?)" "p.(Gln84Alafs*105)" "1" "0000194611" "00007320" "77" "249" "0" "249" "0" "c.249del" "r.(?)" "p.(Gln84Argfs*52)" "1" "0000194612" "00007320" "77" "250" "0" "250" "0" "c.250C>T" "r.(?)" "p.(Gln84*)" "1" "0000194613" "00007320" "77" "250" "0" "250" "0" "c.250C>T" "r.(?)" "p.(Gln84*)" "1" "0000194614" "00007320" "77" "250" "0" "250" "0" "c.250C>T" "r.(?)" "p.(Gln84*)" "1" "0000194615" "00007320" "77" "282" "0" "282" "0" "c.282del" "r.(?)" "p.(Gly95Alafs*41)" "1" "0000194616" "00007320" "77" "331" "0" "331" "0" "c.331A>T" "r.(?)" "p.(Lys111*)" "1" "0000194617" "00007320" "77" "351" "0" "351" "0" "c.351del" "r.(?)" "p.(Tyr117*)" "1" "0000194618" "00007320" "77" "352" "0" "353" "0" "c.352_353insC" "r.(?)" "p.(Val118Alafs*71)" "1" "0000194619" "00007320" "77" "357" "0" "357" "0" "c.357C>A" "r.(?)" "p.(Tyr119*)" "1" "0000194620" "00007320" "77" "357" "0" "357" "0" "c.357C>A" "r.(?)" "p.(Tyr119*)" "1" "0000194621" "00007320" "77" "357" "0" "357" "0" "c.357C>A" "r.(?)" "p.(Tyr119*)" "1" "0000194622" "00007320" "77" "357" "0" "357" "0" "c.357C>G" "r.(?)" "p.(Tyr119*)" "1" "0000194623" "00007320" "77" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Gln122*)" "1" "0000194624" "00007320" "77" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Gln122*)" "1" "0000194625" "00007320" "77" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Gln122*)" "1" "0000194626" "00007320" "77" "368" "0" "369" "0" "c.368_369delinsC" "r.(?)" "p.(Lys123Thrfs*13)" "1" "0000194627" "00007320" "77" "369" "0" "370" "0" "c.369_370del" "r.(?)" "p.(Lys126Asnfs*62)" "1" "0000194628" "00007320" "77" "369" "0" "370" "0" "c.369_370del" "r.(?)" "p.(Lys126Asnfs*62)" "1" "0000194629" "00007320" "77" "369" "0" "370" "0" "c.369_370del" "r.(?)" "p.(Lys126Asnfs*62)" "1" "0000194630" "00007320" "77" "369" "0" "370" "0" "c.369_370del" "r.(?)" "p.(Lys126Asnfs*62)" "1" "0000194631" "00007320" "77" "373" "0" "373" "0" "c.373dup" "r.(?)" "p.(Glu125Glyfs*64)" "1" "0000194632" "00007320" "77" "381" "0" "381" "0" "c.381del" "r.(?)" "p.(Ile127Metfs*9)" "1" "0000194633" "00007320" "77" "388" "0" "389" "0" "c.388_389del" "r.(?)" "p.(Ser130Leufs*58)" "1" "0000194634" "00007320" "77" "398" "0" "398" "0" "c.398del" "r.(?)" "p.(Asn133Thrfs*3)" "1" "0000194635" "00007320" "77" "419" "0" "421" "0" "c.(419_421)del" "r.(?)" "p.(?)" "1" "0000194636" "00007320" "77" "419" "0" "421" "0" "c.(419_421)insN[4]" "r.(?)" "p.(?)" "1" "0000194637" "00007320" "77" "419" "0" "421" "0" "c.(419_421)insN[4]" "r.(?)" "p.(?)" "1" "0000194638" "00007320" "77" "429" "0" "429" "0" "c.429del" "r.(?)" "p.(Tyr144Thrfs*13)" "1" "0000194639" "00007320" "77" "433" "0" "437" "0" "c.433_437del" "r.(?)" "p.(Thr145Glyfs*42)" "1" "0000194640" "00007320" "77" "457" "0" "457" "0" "c.457del" "r.(?)" "p.(Leu153Serfs*4)" "1" "0000194641" "00007320" "77" "459" "0" "460" "0" "c.459_460del" "r.(?)" "p.(Phe154Cysfs*34)" "1" "0000194642" "00007320" "77" "459" "0" "460" "0" "c.459_460del" "r.(?)" "p.(Phe154Cysfs*34)" "1" "0000194643" "00007320" "77" "461" "0" "462" "0" "c.461_462del" "r.(?)" "p.(Phe154Cysfs*34)" "1" "0000194644" "00007320" "77" "461" "0" "462" "0" "c.461_462del" "r.(?)" "p.(Phe154Cysfs*34)" "1" "0000194645" "00007320" "77" "461" "0" "462" "0" "c.461_462del" "r.(?)" "p.(Phe154Cysfs*34)" "1" "0000194646" "00007320" "77" "477" "0" "478" "0" "c.477_478del" "r.(?)" "p.(Thr160Phefs*28)" "1" "0000194647" "00007320" "77" "482" "0" "482" "0" "c.482T>G" "r.(?)" "p.(Leu161*)" "1" "0000194648" "00007320" "79" "490" "0" "490" "0" "c.490G>C" "r.(?)" "p.(Asp164His)" "1" "0000194649" "00007320" "77" "490" "0" "491" "0" "c.490_491del" "r.(?)" "p.(Asp164Profs*24)" "1" "0000194650" "00007320" "77" "493" "0" "493" "0" "c.493C>T" "r.(?)" "p.(Gln165*)" "1" "0000194651" "00007320" "77" "500" "0" "500" "0" "c.500C>A" "r.(?)" "p.(Ser167*)" "1" "0000194652" "00007320" "77" "512" "0" "513" "0" "c.512_513del" "r.(?)" "p.(Val171Alafs*17)" "1" "0000194653" "00007320" "77" "515" "0" "515" "0" "c.515del" "r.(?)" "p.(His172Profs*3)" "1" "0000194654" "00007320" "77" "518" "0" "519" "0" "c.518_519insAAAA" "r.(?)" "p.(Asn173Lysfs*17)" "1" "0000194655" "00007320" "77" "528" "0" "535" "0" "c.528_535del" "r.(?)" "p.(Lys177Glufs*9)" "1" "0000194656" "00007320" "77" "531" "0" "531" "0" "c.531del" "r.(?)" "p.(Val178Cysfs*14)" "1" "0000194657" "00007320" "95" "531" "0" "531" "0" "c.531del" "r.(?)" "p.(Val178Cysfs*14)" "1" "0000194658" "00007320" "77" "535" "0" "535" "0" "c.535C>T" "r.(?)" "p.(Gln179*)" "1" "0000194659" "00007320" "77" "538" "0" "539" "0" "c.538_539del" "r.(?)" "p.(Leu181Profs*7)" "1" "0000194660" "00007320" "77" "538" "0" "539" "0" "c.538_539del" "r.(?)" "p.(Leu181Profs*7)" "1" "0000194661" "00007320" "77" "549" "0" "549" "0" "c.549dup" "r.(?)" "p.(Trp184Valfs*5)" "1" "0000194662" "00007320" "77" "550" "0" "551" "0" "c.550_551del" "r.(?)" "p.(Trp184Glufs*4)" "1" "0000194663" "00007320" "77" "560" "0" "562" "0" "c.560_562delinsC" "r.(?)" "p.(Gly187Alafs*7)" "1" "0000194664" "00007320" "77" "572" "0" "572" "0" "c.572del" "r.(?)" "p.(Leu191*)" "1" "0000194665" "00007320" "77" "572" "0" "572" "0" "c.572T>C" "r.(?)" "p.(Leu191Ser)" "1" "0000194666" "00007320" "77" "572" "0" "572" "0" "c.572T>G" "r.(?)" "p.(Leu191*)" "1" "0000194667" "00007320" "77" "573" "0" "577" "0" "c.573_577del" "r.(?)" "p.(Leu191Phefs*2)" "1" "0000194668" "00007320" "77" "584" "0" "584" "0" "c.584del" "r.(?)" "p.(Leu195Tyrfs*57)" "1" "0000194669" "00007320" "77" "591" "0" "591" "0" "c.591del" "r.(?)" "p.(Gly198Alafs*54)" "1" "0000194670" "00007320" "77" "592" "0" "592" "0" "c.592G>C" "r.(?)" "p.(Gly198Arg)" "1" "0000194672" "00007320" "77" "599" "0" "599" "0" "c.599G>A" "r.(?)" "p.(Trp200*)" "1" "0000194673" "00007320" "77" "599" "0" "599" "0" "c.599G>A" "r.(?)" "p.(Trp200*)" "1" "0000194674" "00007320" "77" "600" "0" "600" "0" "c.600G>A" "r.(?)" "p.(Trp200*)" "1" "0000194675" "00007320" "77" "603" "0" "612" "0" "c.603_612delinsG" "r.(?)" "p.(Asp202_Thr204del)" "1" "0000194676" "00007320" "77" "608" "0" "608" "0" "c.608A>G" "r.(?)" "p.(Tyr203Cys)" "1" "0000194677" "00007320" "77" "621" "0" "625" "0" "c.621_625dup" "r.(?)" "p.(Phe209Trpfs*45)" "1" "0000194678" "00007320" "77" "642" "0" "668" "0" "c.642_668del" "r.(?)" "p.(Met215_Thr223del)" "1" "0000194679" "00007320" "77" "644" "0" "664" "0" "c.644_664del" "r.(?)" "p.(Met215_Ile221del)" "1" "0000194680" "00007320" "77" "644" "0" "664" "0" "c.644_664del" "r.(?)" "p.(Met215_Ile221del)" "1" "0000194681" "00007320" "77" "644" "0" "664" "0" "c.644_664del" "r.(?)" 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"p.(Ser238Leufs*14)" "1" "0000194702" "00007320" "77" "713" "0" "713" "0" "c.713del" "r.(?)" "p.(Ser238Leufs*14)" "1" "0000194703" "00007320" "77" "726" "0" "726" "0" "c.726del" "r.(?)" "p.(Arg243Glyfs*9)" "1" "0000194704" "00007320" "55" "726" "0" "726" "0" "c.726dup" "r.(?)" "p.(Arg243Glnfs*46)" "1" "0000194705" "00007320" "77" "731" "0" "731" "0" "c.731del" "r.(?)" "p.(Thr244Lysfs*8)" "1" "0000194706" "00007320" "77" "742" "0" "742" "0" "c.742del" "r.(?)" "p.(Arg248Glyfs*4)" "1" "0000194707" "00007320" "77" "742" "0" "743" "0" "c.742_743del" "r.(?)" "p.(Arg248Glyfs*40)" "1" "0000194708" "00007320" "77" "742" "0" "743" "0" "c.742_743insTT" "r.(?)" "p.(Arg248Ilefs*5)" "1" "0000194709" "00007320" "77" "752" "0" "752" "0" "c.752del" "r.(?)" "p.(Leu251*)" "1" "0000194710" "00007320" "77" "786" "0" "786" "0" "c.786C>A" "r.(?)" "p.(Tyr262*)" "1" "0000194711" "00007320" "77" "786" "0" "786" "0" "c.786C>G" "r.(?)" 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"p.(Arg280Ser)" "1" "0000194743" "00007320" "97" "848" "0" "848" "0" "c.848T>A" "r.(?)" "p.(Leu283*)" "1" "0000194744" "00007320" "77" "851" "0" "852" "0" "c.851_852dup" "r.(?)" "p.(His285Ilefs*75)" "1" "0000194745" "00007320" "77" "852" "0" "852" "0" "c.852dup" "r.(?)" "p.(His285Serfs*4)" "1" "0000194746" "00007320" "77" "867" "0" "868" "0" "c.867_868del" "r.(?)" "p.(Glu290Glyfs*23)" "1" "0000194747" "00007320" "77" "876" "0" "876" "0" "c.876dup" "r.(?)" "p.(Val293Cysfs*21)" "1" "0000194748" "00007320" "75" "881" "0" "881" "0" "c.881T>G" "r.(?)" "p.(Leu294Arg)" "1" "0000194749" "00007320" "77" "894" "0" "894" "0" "c.894C>A" "r.(?)" "p.(Cys298*)" "1" "0000194750" "00007320" "77" "902" "0" "902" "0" "c.902del" "r.(?)" "p.(Gly301Alafs*58)" "1" "0000194751" "00007320" "77" "906" "0" "906" "0" "c.906del" "r.(?)" "p.(Asp303Thrfs*56)" "1" "0000194752" "00007320" "77" "912" "0" "912" "0" "c.912G>A" "r.(?)" "p.(Trp304*)" "1" "0000194753" "00007320" "77" "913" "0" "913" "0" "c.913C>T" "r.(?)" "p.(Gln305*)" "1" "0000194754" "00007320" "77" "916" "0" "916" "0" "c.916A>T" "r.(?)" "p.(Lys306*)" "1" "0000194755" "00007320" "77" "934" "0" "934" "0" "c.934del" "r.(?)" "p.(Cys312Valfs*47)" "1" "0000194756" "00007320" "77" "943" "0" "944" "0" "c.943_944del" "r.(?)" "p.(Asp315Glnfs*5)" "1" "0000194757" "00007320" "77" "943" "0" "944" "0" "c.943_944del" "r.(?)" "p.(Asp315Glnfs*5)" "1" "0000194758" "00007320" "79" "947" "0" "947" "0" "c.947A>G" "r.(?)" "p.(Asn316Ser)" "1" "0000194759" "00007320" "77" "958" "0" "958" "0" "c.958G>T" "r.(?)" "p.(Glu320*)" "1" "0000194760" "00007320" "77" "962" "1" "962" "1" "c.962+1G>A" "r.spl?" "p.?" "1i" "0000194761" "00007320" "77" "962" "1" "962" "1" "c.962+1G>C" "r.spl?" "p.?" "1i" "0000194762" "00007320" "77" "962" "1" "962" "1" "c.962+1G>C" "r.spl?" "p.?" "1i" "0000194763" "00007320" "77" "962" "1" "962" "1" "c.962+1G>T" "r.spl?" "p.?" "1i" "0000194764" "00007320" "77" "962" "3" "962" "6" "c.962+3_962+6del" "r.spl?" "p.?" "1i" "0000194765" "00007320" "77" "962" "2" "962" "2" "c.962+2T>C" "r.spl?" "p.?" "1i" "0000194766" "00007320" "77" "962" "3" "962" "6" "c.962+3_962+6del" "r.spl?" "p.?" "1i" "0000194767" "00007320" "51" "962" "8" "962" "11" "c.962+8_962+11del" "r.(=)" "p.(=)" "1i" "0000194768" "00007320" "77" "963" "-2" "963" "-2" "c.963-2A>G" "r.spl?" "p.?" "1i" "0000194769" "00007320" "77" "963" "-2" "963" "-2" "c.963-2A>G" "r.spl?" "p.?" "1i" "0000194770" "00007320" "77" "963" "-2" "963" "-2" "c.963-2A>G" "r.spl?" "p.?" "1i" "0000194771" "00007320" "77" "963" "-2" "963" "-2" "c.963-2A>G" "r.spl?" "p.?" "1i" "0000194772" "00007320" "77" "963" "-2" "963" "-2" "c.963-2A>G" "r.spl?" "p.?" "1i" "0000194773" "00007320" "77" "963" "-1" "963" "-1" "c.963-1G>A" "r.spl?" "p.?" "1i" "0000194774" "00007320" "77" "963" "-1" "963" "-1" "c.963-1G>A" "r.spl?" "p.?" "1i" "0000194775" "00007320" "77" "963" "-1" "963" "-1" "c.963-1G>T" "r.spl?" "p.?" "1i" "0000194776" "00007320" "77" "963" "-1" "2590" "0" "c.(962+1_963-1)_(*349_?)del" "r.?" "p.?" "2_11" "0000194777" "00007320" "77" "966" "0" "966" "0" "c.966T>A" "r.(?)" "p.(Tyr322*)" "2" "0000194778" "00007320" "77" "966" "0" "966" "0" "c.966T>G" "r.(?)" "p.(Tyr322*)" "2" "0000194779" "00007320" "77" "976" "0" "976" "0" "c.976del" "r.(?)" "p.(Glu326Lysfs*33)" "2" "0000194780" "00007320" "77" "976" "0" "976" "0" "c.976G>T" "r.(?)" "p.(Glu326*)" "2" "0000194781" "00007320" "77" "976" "0" "976" "0" "c.976G>T" "r.(?)" "p.(Glu326*)" "2" "0000194782" "00007320" "77" "992" "0" "992" "0" "c.992C>A" "r.(?)" "p.(Ala331Asp)" "2" "0000194783" "00007320" "77" "992" "0" "992" "0" "c.992C>A" "r.(?)" "p.(Ala331Asp)" "2" "0000194784" "00007320" "77" "992" "0" "992" "0" "c.992C>A" "r.(?)" "p.(Ala331Asp)" "2" "0000194785" "00007320" "77" "992" "0" "992" "0" "c.992C>T" "r.(?)" "p.(Ala331Val)" "2" "0000194786" "00007320" "77" "1004" "0" "1004" "0" "c.1004T>G" "r.(?)" "p.(Leu335Arg)" "2" "0000194787" "00007320" "77" "1006" "0" "1006" "0" "c.1006del" "r.(?)" "p.(Val336Phefs*23)" "2" "0000194788" "00007320" "77" "1012" "0" "1012" "0" "c.1012del" "r.(?)" "p.(Arg338Valfs*21)" "2" "0000194789" "00007320" "79" "1016" "0" "1016" "0" "c.1016G>A" "r.(?)" "p.(Gly339Asp)" "2" "0000194791" "00007320" "77" "1016" "0" "1016" "0" "c.1016G>T" "r.(?)" "p.(Gly339Val)" "2" "0000194792" "00007320" "79" "1018" "0" "1018" "0" "c.1018C>A" "r.(?)" "p.(Arg340Ser)" "2" "0000194793" "00007320" "79" "1018" "0" "1018" "0" "c.1018C>T" "r.(?)" "p.(Arg340Cys)" "2" "0000194794" "00007320" "79" "1018" "0" "1018" "0" "c.1018C>T" "r.(?)" "p.(Arg340Cys)" "2" "0000194795" "00007320" "79" "1018" "0" "1018" "0" "c.1018C>T" "r.(?)" "p.(Arg340Cys)" "2" "0000194796" "00007320" "79" "1018" "0" "1018" "0" "c.1018C>T" "r.(?)" "p.(Arg340Cys)" "2" "0000194797" "00007320" "79" "1018" "0" "1018" "0" "c.1018C>T" "r.(?)" 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"p.(Arg340Cys)" "2" "0000194808" "00007320" "79" "1018" "0" "1018" "0" "c.1018C>T" "r.(?)" "p.(Arg340Cys)" "2" "0000194809" "00007320" "79" "1018" "0" "1018" "0" "c.1018C>T" "r.(?)" "p.(Arg340Cys)" "2" "0000194810" "00007320" "79" "1018" "0" "1018" "0" "c.1018C>T" "r.(?)" "p.(Arg340Cys)" "2" "0000194811" "00007320" "77" "1018" "0" "1018" "0" "c.1018C>T" "r.(?)" "p.(Arg340Cys)" "2" "0000194812" "00007320" "77" "1018" "0" "1018" "0" "c.1018C>T" "r.(?)" "p.(Arg340Cys)" "2" "0000194813" "00007320" "77" "1018" "0" "1018" "0" "c.1018C>T" "r.(?)" "p.(Arg340Cys)" "2" "0000194814" "00007320" "79" "1018" "0" "1018" "0" "c.1018C>T" "r.(?)" "p.(Arg340Cys)" "2" "0000194815" "00007320" "79" "1019" "0" "1019" "0" "c.1019G>A" "r.(?)" "p.(Arg340His)" "2" "0000194816" "00007320" "79" "1019" "0" "1019" "0" "c.1019G>A" "r.(?)" "p.(Arg340His)" "2" "0000194817" "00007320" "79" "1019" "0" "1019" "0" "c.1019G>A" "r.(?)" "p.(Arg340His)" "2" "0000194818" "00007320" "79" "1019" "0" "1019" "0" "c.1019G>A" "r.(?)" "p.(Arg340His)" "2" "0000194819" "00007320" "79" "1019" "0" "1019" "0" "c.1019G>A" "r.(?)" "p.(Arg340His)" "2" "0000194820" "00007320" "79" "1019" "0" "1019" "0" "c.1019G>A" "r.(?)" "p.(Arg340His)" "2" "0000194821" "00007320" "79" "1019" "0" "1019" "0" "c.1019G>A" "r.(?)" "p.(Arg340His)" "2" "0000194822" "00007320" "79" "1019" "0" "1019" "0" "c.1019G>A" "r.(?)" "p.(Arg340His)" "2" "0000194823" "00007320" "79" "1019" "0" "1019" "0" "c.1019G>A" "r.(?)" "p.(Arg340His)" "2" "0000194824" "00007320" "79" "1019" "0" "1019" "0" "c.1019G>A" "r.(?)" "p.(Arg340His)" "2" "0000194825" "00007320" "79" "1019" "0" "1019" "0" "c.1019G>A" "r.(?)" "p.(Arg340His)" "2" "0000194826" "00007320" "79" "1019" "0" "1019" "0" "c.1019G>A" "r.(?)" "p.(Arg340His)" "2" "0000194827" "00007320" "79" "1019" "0" "1019" "0" "c.1019G>A" "r.(?)" 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"p.(Arg340Leu)" "2" "0000194858" "00007320" "79" "1019" "0" "1019" "0" "c.1019G>T" "r.(?)" "p.(Arg340Leu)" "2" "0000194859" "00007320" "79" "1019" "0" "1019" "0" "c.1019G>T" "r.(?)" "p.(Arg340Leu)" "2" "0000194860" "00007320" "79" "1019" "0" "1019" "0" "c.1019G>T" "r.(?)" "p.(Arg340Leu)" "2" "0000194861" "00007320" "79" "1019" "0" "1019" "0" "c.1019G>T" "r.(?)" "p.(Arg340Leu)" "2" "0000194862" "00007320" "79" "1019" "0" "1019" "0" "c.1019G>T" "r.(?)" "p.(Arg340Leu)" "2" "0000194863" "00007320" "79" "1019" "0" "1019" "0" "c.1019G>T" "r.(?)" "p.(Arg340Leu)" "2" "0000194864" "00007320" "77" "1019" "0" "1019" "0" "c.1019G>T" "r.(?)" "p.(Arg340Leu)" "2" "0000194865" "00007320" "77" "1021" "0" "1021" "0" "c.1021A>G" "r.(?)" "p.(Arg341Gly)" "2" "0000194866" "00007320" "77" "1021" "0" "1021" "0" "c.1021del" "r.(?)" "p.(Arg341Glyfs*18)" "2" "0000194867" "00007320" "77" "1027" "0" "1027" "0" "c.1027G>A" "r.(?)" 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"p.(Arg346Ile)" "2" "0000194879" "00007320" "77" "1038" "0" "1038" "0" "c.1038A>T" "r.(?)" "p.(Arg346Ser)" "2" "0000194880" "00007320" "77" "1038" "0" "1038" "0" "c.1038A>T" "r.(?)" "p.(Arg346Ser)" "2" "0000194881" "00007320" "77" "1054" "0" "1054" "0" "c.1054C>T" "r.(?)" "p.(Gln352*)" "2" "0000194882" "00007320" "77" "1056" "1" "1056" "1" "c.1056+1G>A" "r.spl?" "p.?" "2i" "0000194883" "00007320" "77" "1056" "1" "1056" "1" "c.1056+1G>A" "r.spl?" "p.?" "2i" "0000194884" "00007320" "77" "1056" "1" "1056" "1" "c.1056+1G>A" "r.spl?" "p.?" "2i" "0000194885" "00007320" "77" "1056" "1" "1056" "1" "c.1056+1G>A" "r.spl?" "p.?" "2i" "0000194886" "00007320" "77" "1056" "1" "1056" "1" "c.1056+1G>A" "r.spl?" "p.?" "2i" "0000194887" "00007320" "77" "1056" "1" "1056" "1" "c.1056+1G>A" "r.spl?" "p.?" "2i" "0000194888" "00007320" "77" "1056" "2" "1056" "2" "c.1056+2dup" "r.spl?" "p.?" "2i" "0000194889" "00007320" "77" "1056" "2" "1056" "2" "c.1056+2dup" "r.spl?" "p.?" "2i" "0000194890" "00007320" "55" "1056" "3" "1056" "3" "c.1056+3A>C" "r.spl?" "p.?" "2i" "0000194891" "00007320" "55" "1057" "-3" "1057" "-3" "c.1057-3C>G" "r.spl?" "p.?" "2i" "0000194892" "00007320" "55" "1057" "-2" "1057" "-2" "c.1057-2A>G" "r.spl?" "p.?" "2i" "0000194893" "00007320" "55" "1057" "-2" "1057" "-2" "c.1057-2A>G" "r.spl?" "p.?" "2i" "0000194894" "00007320" "55" "1057" "-2" "1057" "-2" "c.1057-2A>T" "r.spl?" "p.?" "2i" "0000194895" "00007320" "77" "1063" "0" "1063" "0" "c.1063T>C" "r.(?)" "p.(Cys355Arg)" "3" "0000194896" "00007320" "11" "1065" "0" "1065" "0" "c.1065C>T" "r.(=)" "p.(=)" "3" "0000194897" "00007320" "11" "1066" "0" "1066" "0" "c.1066G>A" "r.(?)" "p.(Val356Ile)" "3" "0000194898" "00007320" "77" "1067" "0" "1077" "0" "c.1067_1077del" "r.(?)" "p.(Val356Alafs*11)" "3" "0000194899" "00007320" "77" "1070" "0" "1070" "0" "c.1070del" "r.(?)" "p.(Pro357Leufs*2)" "3" "0000194900" "00007320" "77" "1092" "0" "1092" "0" "c.1092G>A" "r.(?)" "p.(Trp364*)" "3" "0000194901" "00007320" "77" "1092" "0" "1092" "0" "c.1092G>A" "r.(?)" "p.(Trp364*)" "3" "0000194902" "00007320" "77" "1093" "0" "1093" "0" "c.1093del" "r.(?)" "p.(Glu365Serfs*7)" "3" "0000194903" "00007320" "77" "1097" "0" "1097" "0" "c.1097del" "r.(?)" "p.(Leu366Cysfs*6)" "3" "0000194904" "00007320" "77" "1101" "0" "1101" "0" "c.1101dup" "r.(?)" "p.(Phe368Ilefs*3)" "3" "0000194905" "00007320" "77" "1108" "0" "1108" "0" "c.1108G>C" "r.(?)" "p.(Glu370Gln)" "3" "0000194906" "00007320" "77" "1117" "0" "1117" "0" "c.1117A>G" "r.(?)" "p.(Asn373Asp)" "3" "0000194907" "00007320" "77" "1118" "0" "1165" "-985" "c.1118_1165-985delinsC" "r.spl?" "p.?" "3" "0000194908" "00007320" "77" "1121" "0" "1121" "0" "c.1121G>A" "r.(?)" "p.(Trp374*)" "3" "0000194909" "00007320" "77" "1122" "0" "1122" "0" "c.1122G>A" "r.(?)" "p.(Trp374*)" "3" "0000194910" "00007320" "77" "1122" "0" "1122" "0" "c.1122G>A" "r.(?)" "p.(Trp374*)" "3" "0000194911" "00007320" "77" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Gln376*)" "3" "0000194912" "00007320" "77" "1152" "0" "1152" "0" "c.1152del" "r.(?)" "p.(Arg384Serfs*19)" "3" "0000194913" "00007320" "77" "1152" "0" "1152" "0" "c.1152del" "r.(?)" "p.(Arg384Serfs*19)" "3" "0000194914" "00007320" "77" "1157" "0" "1157" "0" "c.1157T>G" "r.(?)" "p.(Leu386*)" "3" "0000194915" "00007320" "77" "1160" "0" "1160" "0" "c.1160T>A" "r.(?)" "p.(Leu387*)" "3" "0000194916" "00007320" "77" "1162" "0" "1162" "0" "c.1162C>T" "r.(?)" "p.(Gln388*)" "3" "0000194917" "00007320" "77" "1162" "0" "1162" "0" "c.1162C>T" "r.(?)" "p.(Gln388*)" "3" "0000194918" "00007320" "77" "1162" "0" "1162" "0" "c.1162C>T" "r.(?)" "p.(Gln388*)" "3" "0000194919" "00007320" "77" "1162" "0" "1162" "0" "c.1162C>T" "r.(?)" "p.(Gln388*)" "3" "0000194920" "00007320" "77" "1163" "0" "1164" "0" "c.1163_1164del" "r.(?)" "p.(Gln388Hisfs*12)" "3" "0000194921" "00007320" "77" "1164" "1" "1164" "1" "c.1164+1dup" "r.spl?" "p.?" "3i" "0000194922" "00007320" "77" "1164" "1" "1164" "1" "c.1164+1G>C" "r.spl?" "p.?" "3i" "0000194923" "00007320" "77" "1164" "1" "1164" "1" "c.1164+1G>T" "r.spl?" "p.?" "3i" "0000194924" "00007320" "77" "1165" "0" "1166" "0" "c.1165_1166insG" "r.(?)" "p.(Ile389Serfs*12)" "4" "0000194925" "00007320" "77" "1167" "0" "1167" "0" "c.1167del" "r.(?)" "p.(Pro390Leufs*13)" "4" "0000194926" "00007320" "77" "1171" "0" "1171" "0" "c.1171del" "r.(?)" "p.(Ser391Leufs*12)" "4" "0000194927" "00007320" "77" "1178" "0" "1179" "0" "c.1178_1179dup" "r.(?)" "p.(Arg394Serfs*10)" "4" "0000194928" "00007320" "77" "1192" "0" "1192" "0" "c.1192C>T" "r.(?)" "p.(Gln398*)" "4" "0000194929" "00007320" "77" "1199" "0" "1199" "0" "c.1199A>G" "r.(?)" "p.(Lys400Arg)" "4" "0000194930" "00007320" "77" "1201" "0" "1201" "0" "c.1201dup" "r.(?)" "p.(Ile401Asnfs*5)" "4" "0000194931" "00007320" "77" "1213" "0" "1213" "0" "c.1213A>T" "r.(?)" "p.(Arg405*)" "4" "0000194932" "00007320" "77" "1213" "0" "1213" "0" "c.1213A>T" "r.(?)" "p.(Arg405*)" "4" "0000194933" "00007320" "77" "1213" "0" "1213" "0" "c.1213A>T" "r.(?)" "p.(Arg405*)" "4" "0000194934" "00007320" "77" "1213" "0" "1213" "0" "c.1213dup" "r.(?)" "p.(Arg405Lysfs*16)" "4" "0000194935" "00007320" "77" "1215" "0" "1218" "0" "c.1215_1218del" "r.(?)" "p.(Arg405Serfs*19)" "4" "0000194936" "00007320" "77" "1215" "0" "1218" "0" "c.1215_1218del" "r.(?)" "p.(Arg405Serfs*19)" "4" "0000194937" "00007320" "77" "1215" "0" "1218" "0" "c.1215_1218del" "r.(?)" "p.(Arg405Serfs*19)" "4" "0000194938" "00007320" "77" "1215" "0" "1218" "0" "c.1215_1218del" "r.(?)" "p.(Arg405Serfs*19)" "4" "0000194939" "00007320" "77" "1215" "0" "1218" "0" "c.1215_1218del" "r.(?)" "p.(Arg405Serfs*19)" "4" "0000194940" "00007320" "77" "1215" "0" "1218" "0" "c.1215_1218del" "r.(?)" "p.(Arg405Serfs*19)" "4" "0000194941" "00007320" "77" "1215" "0" "1218" "0" "c.1215_1218del" "r.(?)" "p.(Arg405Serfs*19)" "4" "0000194942" "00007320" "77" "1215" "0" "1218" "0" "c.1215_1218del" "r.(?)" "p.(Arg405Serfs*19)" "4" "0000194943" "00007320" "77" "1215" "0" "1218" "0" "c.1215_1218del" "r.(?)" "p.(Arg405Serfs*19)" "4" "0000194944" "00007320" "77" "1215" "0" "1218" "0" "c.1215_1218del" "r.(?)" "p.(Arg405Serfs*19)" "4" "0000194945" "00007320" "77" "1215" "0" "1218" "0" "c.1215_1218del" "r.(?)" "p.(Arg405Serfs*19)" "4" "0000194946" "00007320" "77" "1216" "0" "1216" "0" "c.1216C>T" "r.(?)" "p.(Gln406*)" "4" "0000194947" "00007320" "77" "1216" "0" "1216" "0" "c.1216C>T" "r.(?)" "p.(Gln406*)" "4" "0000194948" "00007320" "77" "1219" "0" "1219" "0" "c.1219C>T" "r.(?)" "p.(Gln407*)" "4" "0000194949" "00007320" "77" "1219" "0" "1219" "0" "c.1219C>T" "r.(?)" "p.(Gln407*)" "4" "0000194950" "00007320" "77" "1225" "0" "1225" "0" "c.1225C>T" "r.(?)" "p.(Gln409*)" "4" "0000194951" "00007320" "77" "1225" "0" "1225" "0" "c.1225C>T" "r.(?)" "p.(Gln409*)" "4" "0000194952" "00007320" "77" "1225" "0" "1226" "0" "c.1225_1226del" "r.(?)" "p.(Gln409Ilefs*11)" "4" "0000194953" "00007320" "77" "1235" "0" "1235" "0" "c.1235G>A" "r.(?)" "p.(Trp412*)" "4" "0000194954" "00007320" "77" "1235" "0" "1235" "0" "c.1235G>A" "r.(?)" "p.(Trp412*)" "4" "0000194955" "00007320" "77" "1237" "0" "1237" "0" "c.1237del" "r.(?)" "p.(Glu413Argfs*12)" "4" "0000194956" "00007320" "79" "1237" "0" "1237" "0" "c.1237G>T" "r.(?)" "p.(Glu413*)" "4" "0000194957" "00007320" "77" "1245" "0" "1245" "0" "c.1245T>G" "r.(?)" "p.(Tyr415*)" "4" "0000194958" "00007320" "77" "1271" "0" "1271" "0" "c.1271T>G" "r.(?)" "p.(Leu424*)" "4" "0000194959" "00007320" "77" "1278" "0" "1279" "0" "c.1278_1279del" "r.(?)" "p.(Leu427Argfs*14)" "4" "0000194960" "00007320" "77" "1284" "1" "1284" "1" "c.1284+1G>T" "r.spl?" "p.?" "4i" "0000194961" "00007320" "77" "1284" "1" "1284" "1" "c.1284+1G>T" "r.spl?" "p.?" "4i" "0000194962" "00007320" "77" "1284" "1" "1284" "1" "c.1284+1G>T" "r.spl?" "p.?" "4i" "0000194963" "00007320" "77" "1284" "2" "1284" "2" "c.1284+2T>G" "r.spl?" "p.?" "4i" "0000194964" "00007320" "11" "1284" "64" "1284" "64" "c.1284+64C>A" "r.(=)" "p.(=)" "4i" "0000194965" "00007320" "77" "1285" "-2" "1285" "-2" "c.1285-2A>C" "r.spl?" "p.?" "4i" "0000194966" "00007320" "77" "1285" "-2" "1286" "0" "c.1285-2_1286del" "r.spl?" "p.?" "4i_5" "0000194967" "00007320" "77" "1285" "-1" "1285" "-1" "c.1285-1G>C" "r.spl?" "p.?" "4i" "0000194968" "00007320" "77" "1285" "-1" "1285" "-1" "c.1285-1G>C" "r.spl?" "p.?" "4i" "0000194969" "00007320" "77" "1285" "-1" "1285" "-1" "c.1285-1G>C" "r.spl?" "p.?" "4i" "0000194970" "00007320" "77" "1285" "-1" "1285" "-1" "c.1285-1G>C" "r.spl?" "p.?" "4i" "0000194971" "00007320" "77" "1291" "0" "1291" "0" "c.1291C>T" "r.(?)" "p.(Gln431*)" "5" "0000194972" "00007320" "77" "1298" "0" "1299" "0" "c.1298_1299del" "r.(?)" "p.(Arg433Asnfs*8)" "5" "0000194973" "00007320" "77" "1301" "0" "1301" "0" "c.1301del" "r.(?)" "p.(Ile434Asnfs*10)" "5" "0000194974" "00007320" "77" "1307" "0" "1307" "0" "c.1307A>T" "r.(?)" "p.(Lys436Met)" "5" "0000194975" "00007320" "77" "1314" "0" "1315" "0" "c.1314_1315del" "r.(?)" "p.(Ser439Thrfs*2)" "5" "0000194976" "00007320" "77" "1320" "0" "1320" "0" "c.1320dup" "r.(?)" "p.(Asn441*)" "5" "0000194977" "00007320" "77" "1322" "0" "1322" "0" "c.1322dup" "r.(?)" "p.(Asn441Lysfs*31)" "5" "0000194978" "00007320" "77" "1333" "0" "1340" "0" "c.1333_1340del" "r.(?)" "p.(Trp445Thrfs*24)" "5" "0000194979" "00007320" "77" "1333" "0" "1340" "0" "c.1333_1340del" "r.(?)" "p.(Trp445Thrfs*24)" "5" "0000194980" "00007320" "77" "1335" "0" "1335" "0" "c.1335dup" "r.(?)" "p.(Asn446Glufs*26)" "5" "0000194981" "00007320" "77" "1339" "0" "1339" "0" "c.1339A>T" "r.(?)" "p.(Lys447*)" "5" "0000194982" "00007320" "77" "1342" "0" "1342" "0" "c.1342dup" "r.(?)" "p.(His448Profs*24)" "5" "0000194983" "00007320" "77" "1360" "0" "1360" "0" "c.1360G>A" "r.(?)" "p.(Val454Ile)" "5" "0000194984" "00007320" "77" "1361" "0" "1361" "0" "c.1361dup" "r.(?)" "p.(Leu455Thrfs*17)" "5" "0000194985" "00007320" "77" "1362" "0" "1362" "0" "c.1362dup" "r.(?)" "p.(Leu455Thrfs*17)" "5" "0000194986" "00007320" "77" "1367" "0" "1367" "0" "c.1367del" "r.(?)" "p.(Pro456Hisfs*17)" "5" "0000194987" "00007320" "77" "1369" "0" "1370" "0" "c.1369_1370del" "r.(?)" "p.(Gln457Valfs*14)" "5" "0000194988" "00007320" "77" "1372" "0" "1372" "0" "c.1372del" "r.(?)" "p.(Tyr458Ilefs*15)" "5" "0000194989" "00007320" "77" "1374" "0" "1374" "0" "c.1374T>G" "r.(?)" "p.(Tyr458*)" "5" "0000194990" "00007320" "77" "1376" "0" "1376" "0" "c.1376C>G" "r.(?)" "p.(Ser459*)" "5" "0000194991" "00007320" "77" "1384" "0" "1384" "0" "c.1384del" "r.(?)" "p.(Leu462Trpfs*11)" "5" "0000194992" "00007320" "77" "1395" "0" "1395" "0" "c.1395del" "r.(?)" "p.(Pro466Leufs*7)" "5" "0000194993" "00007320" "77" "1397" "0" "1397" "0" "c.1397C>G" "r.(?)" "p.(Pro466Arg)" "5" "0000194994" "00007320" "77" "1402" "0" "1402" "0" "c.1402del" "r.(?)" "p.(Tyr468Thrfs*5)" "5" "0000194995" "00007320" "77" "1402" "0" "1402" "0" "c.1402del" "r.(?)" "p.(Tyr468Thrfs*5)" "5" "0000194996" "00007320" "77" "1404" "0" "1404" "0" "c.1404C>G" "r.(?)" "p.(Tyr468*)" "5" "0000194997" "00007320" "77" "1404" "0" "1404" "0" "c.1404C>G" "r.(?)" "p.(Tyr468*)" "5" "0000194998" "00007320" "77" "1409" "0" "1418" "0" "c.1409_1418del" "r.(?)" "p.(Ala470Valfs*2)" "5_6" "0000194999" "00007320" "77" "1410" "0" "1410" "0" "c.1410del" "r.(?)" "p.(Asn471Ilefs*2)" "5" "0000195000" "00007320" "77" "1415" "0" "1415" "0" "c.1415T>A" "r.(?)" "p.(Leu472*)" "5" "0000195001" "00007320" "77" "1417" "0" "1417" "0" "c.1417G>A" "r.(?)" "p.(Gly473Ser)" "5" "0000195002" "00007320" "77" "1417" "1" "1417" "1" "c.1417+1G>A" "r.spl?" "p.?" "5i" "0000195003" "00007320" "77" "1417" "1" "1417" "1" "c.1417+1G>A" "r.spl?" "p.?" "5i" "0000195004" "00007320" "77" "1417" "1" "1417" "1" "c.1417+1G>T" "r.spl?" "p.?" "5i" "0000195005" "00007320" "77" "1417" "2" "1417" "2" "c.1417+2dup" "r.spl?" "p.?" "5i" "0000195006" "00007320" "77" "1417" "2" "1417" "2" "c.1417+2dup" "r.spl?" "p.?" "5i" "0000195007" "00007320" "77" "1417" "2" "1417" "2" "c.1417+2T>G" "r.spl?" "p.?" "5i" "0000195008" "00007320" "77" "1417" "2" "1417" "7" "c.1417+2_1417+7del" "r.spl?" "p.?" "5i" "0000195009" "00007320" "77" "1418" "-2" "1418" "-2" "c.1418-2A>G" "r.spl?" "p.?" "5i" "0000195010" "00007320" "77" "1418" "-2" "1418" "-2" "c.1418-2A>G" "r.spl?" "p.?" "5i" "0000195011" "00007320" "77" "1418" "-2" "1418" "-2" "c.1418-2A>G" "r.spl?" "p.?" "5i" "0000195012" "00007320" "77" "1418" "-1" "1418" "-1" "c.1418-1G>A" "r.spl?" "p.?" "5i" "0000195013" "00007320" "77" "1421" "0" "1421" "0" "c.1421T>G" "r.(?)" "p.(Leu474*)" "6" "0000195014" "00007320" "77" "1423" "0" "1423" "0" "c.1423A>T" "r.(?)" "p.(Lys475*)" "6" "0000195015" "00007320" "77" "1425" "0" "1425" "0" "c.1425del" "r.(?)" "p.(Lys475Asnfs*13)" "6" "0000195016" "00007320" "77" "1430" "0" "1431" "0" "c.1430_1431insT" "r.(?)" "p.(Ser478Leufs*43)" "6" "0000195017" "00007320" "11" "1431" "0" "1431" "0" "c.1431C>T" "r.(=)" "p.(=)" "6" "0000195018" "00007320" "77" "1431" "0" "1431" "0" "c.1431del" "r.(?)" "p.(Ser478Profs*10)" "6" "0000195019" "00007320" "79" "1431" "0" "1431" "0" "c.1431dup" "r.(?)" "p.(Ser478Leufs*43)" "6" "0000195020" "00007320" "77" "1431" "0" "1431" "0" "c.1431dup" "r.(?)" "p.(Ser478Leufs*43)" "6" "0000195021" "00007320" "77" "1431" "0" "1431" "0" "c.1431dup" "r.(?)" "p.(Ser478Leufs*43)" "6" "0000195022" "00007320" "77" "1431" "0" "1431" "0" "c.1431dup" "r.(?)" 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"p.(Ala504Cysfs*17)" "6" "0000195094" "00007320" "77" "1522" "0" "1522" "0" "c.1522C>T" "r.(?)" "p.(Gln508*)" "6" "0000195095" "00007320" "77" "1527" "0" "1527" "0" "c.1527C>G" "r.(?)" "p.(Tyr509*)" "6" "0000195096" "00007320" "77" "1534" "0" "1534" "0" "c.1534C>T" "r.(?)" "p.(Gln512*)" "6" "0000195097" "00007320" "77" "1534" "0" "1534" "0" "c.1534del" "r.(?)" "p.(Gln512Argfs*3)" "6" "0000195098" "00007320" "77" "1536" "1" "1536" "1" "c.1536+1G>A" "r.spl?" "p.?" "6i" "0000195099" "00007320" "77" "1536" "1" "1536" "1" "c.1536+1G>C" "r.spl?" "p.?" "6i" "0000195100" "00007320" "77" "1536" "1" "1536" "1" "c.1536+1G>T" "r.spl?" "p.?" "6i" "0000195101" "00007320" "77" "1536" "1" "1536" "1" "c.1536+1G>T" "r.spl?" "p.?" "6i" "0000195102" "00007320" "77" "1536" "1" "1536" "1" "c.1536+1G>T" "r.spl?" "p.?" "6i" "0000195103" "00007320" "77" "1536" "7" "1536" "7" "c.1536+7G>A" "r.(=)" "p.(=)" "6i" "0000195104" "00007320" "77" "1537" "-2" "1537" "-2" "c.1537-2A>G" "r.spl?" "p.?" "6i" "0000195105" "00007320" "77" "1537" "-1" "1537" "-1" "c.1537-1G>C" "r.spl?" "p.?" "6i" "0000195106" "00007320" "77" "1537" "-1" "1537" "-1" "c.1537-1G>T" "r.spl?" "p.?" "6i" "0000195107" "00007320" "77" "1537" "-1" "1537" "-1" "c.1537-1G>T" "r.spl?" "p.?" "6i" "0000195108" "00007320" "77" "1537" "-1" "1722" "1" "c.(1536+1_1537-1)_(1722+1_1723-1)del" "r.(?)" "p.(Ile513_Glu574del)" "7_8" "0000195109" "00007320" "77" "1550" "0" "1550" "0" "c.1550G>A" "r.(?)" "p.(Trp517*)" "7" "0000195110" "00007320" "77" "1551" "0" "1551" "0" "c.1551dup" "r.(?)" "p.(Asn518Glufs*3)" "7" "0000195111" "00007320" "77" "1551" "0" "1551" "0" "c.1551G>A" "r.(?)" "p.(Trp517*)" "7" "0000195112" "00007320" "77" "1557" "0" "1557" "0" "c.1557T>A" "r.(?)" "p.(Cys519*)" "7" "0000195113" "00007320" "77" "1568" "0" "1568" "0" "c.1568del" "r.(?)" "p.(Leu523Hisfs*24)" "7" "0000195114" "00007320" "77" "1568" "0" "1568" "0" "c.1568del" "r.(?)" "p.(Leu523Hisfs*24)" "7" "0000195115" "00007320" "77" "1568" "0" "1568" "0" "c.1568dup" "r.(?)" "p.(Pro524Thrfs*17)" "7" "0000195116" "00007320" "77" "1571" "0" "1584" "0" "c.1571_1584del" "r.(?)" "p.(Pro524Leufs*12)" "7" "0000195117" "00007320" "77" "1587" "0" "1587" "0" "c.1587G>A" "r.(?)" "p.(Trp529*)" "7" "0000195118" "00007320" "77" "1587" "0" "1587" "0" "c.1587G>A" "r.(?)" "p.(Trp529*)" "7" "0000195119" "00007320" "77" "1587" "0" "1587" "0" "c.1587G>A" "r.(?)" "p.(Trp529*)" "7" "0000195120" "00007320" "75" "1596" "0" "1596" "0" "c.1596del" "r.(?)" "p.(Ala533Leufs*14)" "7" "0000195121" "00007320" "77" "1609" "0" "1609" "0" "c.1609G>A" "r.(?)" "p.(Val537Ile)" "7" "0000195122" "00007320" "77" "1620" "0" "1620" "0" "c.1620del" "r.(?)" "p.(Gly541Glufs*6)" "7" "0000195123" "00007320" "77" "1623" "0" "1632" "14" "c.1623_1632+14del" "r.spl?" "p.?" "7" "0000195124" "00007320" "77" "1624" "0" "1624" "0" "c.1624G>T" "r.(?)" "p.(Glu542*)" "7" "0000195125" "00007320" "57" "1632" "1" "1632" "1" "c.1632+1G>C" "r.spl?" "p.?" "7i" "0000195126" "00007320" "55" "1633" "-26" "1633" "-26" "c.1633-26C>A" "r.(=)" "p.(=)" "7i" "0000195127" "00007320" "77" "1633" "-2" "1633" "-2" "c.1633-2A>G" "r.spl?" "p.?" "7i" "0000195128" "00007320" "77" "1633" "-2" "1633" "-2" "c.1633-2A>G" "r.spl?" "p.?" "7i" "0000195129" "00007320" "77" "1633" "-2" "1633" "-2" "c.1633-2del" "r.spl?" "p.?" "7i" "0000195130" "00007320" "77" "1633" "-1" "1633" "-1" "c.1633-1G>C" "r.spl?" "p.?" "7i" "0000195131" "00007320" "77" "1635" "0" "1636" "0" "c.1635_1636insTCCTT" "r.(?)" "p.(Met546Serfs*3)" "8" "0000195132" "00007320" "77" "1642" "0" "1642" "0" "c.1642del" "r.(?)" "p.(Ser548Alafs*73)" "8" "0000195133" "00007320" "77" "1642" "0" "1642" "0" "c.1642del" "r.(?)" "p.(Ser548Alafs*73)" "8" "0000195134" "00007320" "77" "1642" "0" "1642" "0" "c.1642del" "r.(?)" "p.(Ser548Alafs*73)" "8" "0000195135" "00007320" "77" "1642" "0" "1642" "0" "c.1642del" "r.(?)" "p.(Ser548Alafs*73)" "8" "0000195136" "00007320" "77" "1645" "0" "1645" "0" "c.1645del" "r.(?)" "p.(Arg549Valfs*72)" "8" "0000195137" "00007320" "77" "1645" "0" "1645" "0" "c.1645del" "r.(?)" "p.(Arg549Valfs*72)" "8" "0000195138" "00007320" "77" "1645" "0" "1645" "0" "c.1645del" "r.(?)" "p.(Arg549Valfs*72)" "8" "0000195139" "00007320" "77" "1649" "0" "1650" "0" "c.1649_1650del" "r.(?)" "p.(Phe550Serfs*15)" "8" "0000195140" "00007320" "77" "1657" "0" "1663" "0" "c.1657_1663delinsN[13]" "r.(?)" "p.(?)" "8" "0000195141" "00007320" "77" "1659" "0" "1659" "0" "c.1659C>A" "r.(?)" "p.(Tyr553*)" "8" "0000195142" "00007320" "77" "1659" "0" "1659" "0" "c.1659C>A" "r.(?)" "p.(Tyr553*)" "8" "0000195143" "00007320" "77" "1660" "0" "1669" "0" "c.1660_1669del" "r.(?)" "p.(Asp554Serfs*64)" "8" "0000195144" "00007320" "77" "1664" "0" "1664" "0" "c.1664dup" "r.(?)" "p.(Asn555Lysfs*11)" "8" "0000195145" "00007320" "77" "1677" "0" "1681" "0" "c.1677_1681delinsTGA" "r.(?)" "p.(Ala560Aspfs*5)" "8" "0000195146" "00007320" "77" "1680" "0" "1680" "0" "c.1680dup" "r.(?)" "p.(Val561Argfs*5)" "8" "0000195147" "00007320" "77" "1685" "0" "1685" "0" "c.1685T>C" "r.(?)" "p.(Leu562Pro)" "8" "0000195148" "00007320" "77" "1685" "0" "1685" "0" "c.1685T>C" "r.(?)" "p.(Leu562Pro)" "8" "0000195149" "00007320" "77" "1685" "0" "1685" "0" "c.1685T>C" "r.(?)" "p.(Leu562Pro)" "8" "0000195150" "00007320" "77" "1685" "0" "1685" "0" "c.1685T>C" "r.(?)" "p.(Leu562Pro)" "8" "0000195151" "00007320" "77" "1685" "0" "1685" "0" "c.1685T>G" "r.(?)" "p.(Leu562Arg)" "8" "0000195152" "00007320" "77" "1696" "0" "1696" "0" "c.1696G>T" "r.(?)" "p.(Glu566*)" "8" "0000195153" "00007320" "77" "1696" "0" "1696" "0" "c.1696G>T" "r.(?)" "p.(Glu566*)" "8" "0000195154" "00007320" "77" "1702" "0" "1703" "0" "c.1702_1703ins5" "r.(?)" "p.(?)" "8" "0000195155" "00007320" "77" "1714" "0" "1714" "0" "c.1714del" "r.(?)" "p.(Thr572Glnfs*49)" "8" "0000195156" "00007320" "77" "1714" "0" "1714" "0" "c.1714del" "r.(?)" "p.(Thr572Glnfs*49)" "8" "0000195157" "00007320" "77" "1720" "0" "1720" "0" "c.1720G>T" "r.(?)" "p.(Glu574*)" "8" "0000195158" "00007320" "77" "1722" "1" "1722" "1" "c.1722+1G>A" "r.spl?" "p.?" "8i" "0000195159" "00007320" "77" "1722" "1" "1722" "1" "c.1722+1G>C" "r.spl?" "p.?" "8i" "0000195160" "00007320" "77" "1722" "1" "1722" "1" "c.1722+1G>T" "r.spl?" "p.?" "8i" "0000195161" "00007320" "77" "1722" "1" "1722" "1" "c.1722+1G>T" "r.spl?" "p.?" "8i" "0000195162" "00007320" "77" "1722" "2" "1722" "2" "c.1722+2dup" "r.spl?" "p.?" "8i" "0000195163" "00007320" "77" "1722" "2" "1722" "2" "c.1722+2T>C" "r.spl?" "p.?" "8i" "0000195164" "00007320" "77" "1722" "2" "1722" "2" "c.1722+2T>C" "r.spl?" "p.?" "8i" "0000195165" "00007320" "77" "1723" "-2" "1723" "-2" "c.1723-2A>C" "r.spl?" "p.?" "8i" "0000195166" "00007320" "77" "1723" "-1" "1723" "-1" "c.1723-1G>A" "r.spl?" "p.?" "8i" "0000195167" "00007320" "77" "1723" "-1" "1723" "-1" "c.1723-1G>C" "r.spl?" "p.?" "8i" "0000195168" "00007320" "77" "1723" "0" "1723" "0" "c.1723G>C" "r.(?)" "p.(Val575Leu)" "9" "0000195169" "00007320" "77" "1742" "0" "1745" "0" "c.1742_1745del" "r.(?)" "p.(Val581Glyfs*39)" "9" "0000195170" "00007320" "77" "1745" "0" "1745" "0" "c.1745G>A" "r.(?)" "p.(Trp582*)" "9" "0000195171" "00007320" "77" "1745" "0" "1745" "0" "c.1745G>A" "r.(?)" "p.(Trp582*)" "9" "0000195172" "00007320" "77" "1745" "0" "1745" "0" "c.1745G>A" "r.(?)" "p.(Trp582*)" "9" "0000195173" "00007320" "77" "1746" "0" "1746" "0" "c.1746G>A" "r.(?)" "p.(Trp582*)" "9" "0000195174" "00007320" "77" "1746" "0" "1746" "0" "c.1746G>A" "r.(?)" "p.(Trp582*)" "9" "0000195175" "00007320" "77" "1758" "0" "1758" "0" "c.1758del" "r.(?)" "p.(Glu587Argfs*34)" "9" "0000195176" "00007320" "11" "1761" "0" "1761" "0" "c.1761G>A" "r.(=)" "p.(=)" "9" "0000195177" "00007320" "77" "1770" "0" "1774" "0" "c.1770_1774del" "r.(?)" "p.(Gly591Profs*9)" "9" "0000195178" "00007320" "77" "1773" "0" "1773" "0" "c.1773del" "r.(?)" "p.(Tyr592Thrfs*29)" "9" "0000195179" "00007320" "77" "1773" "0" "1773" "0" "c.1773del" "r.(?)" "p.(Tyr592Thrfs*29)" "9" "0000195180" "00007320" "77" "1776" "0" "1776" "0" "c.1776C>A" "r.(?)" "p.(Tyr592*)" "9" "0000195181" "00007320" "77" "1776" "0" "1776" "0" "c.1776C>A" "r.(?)" "p.(Tyr592*)" "9" "0000195182" "00007320" "77" "1776" "0" "1776" "0" "c.1776C>A" "r.(?)" "p.(Tyr592*)" "9" "0000195183" "00007320" "55" "1779" "0" "1779" "0" "c.1779C>T" "r.(=)" "p.(=)" "9" "0000195184" "00007320" "77" "1784" "0" "1785" "0" "c.1784_1785del" "r.(?)" "p.(Arg595Glnfs*6)" "9" "0000195185" "00007320" "77" "1784" "0" "1785" "0" "c.1784_1785del" "r.(?)" "p.(Arg595Glnfs*6)" "9" "0000195186" "00007320" "77" "1796" "0" "1796" "0" "c.1796G>A" "r.(?)" "p.(Trp599*)" "9" "0000195187" "00007320" "77" "1797" "0" "1797" "0" "c.1797G>A" "r.(?)" "p.(Trp599*)" "9" "0000195188" "00007320" "77" "1797" "0" "1797" "0" "c.1797G>A" "r.(?)" "p.(Trp599*)" "9" "0000195189" "00007320" "77" "1797" "0" "1797" "0" "c.1797G>A" "r.(?)" "p.(Trp599*)" "9" "0000195190" "00007320" "77" "1807" "0" "1807" "0" "c.1807A>T" "r.(?)" "p.(Lys603*)" "9" "0000195191" "00007320" "77" "1810" "0" "1810" "0" "c.1810G>T" "r.(?)" "p.(Glu604*)" "9" "0000195192" "00007320" "77" "1815" "0" "1815" "0" "c.1815del" "r.(?)" "p.(Trp606Glyfs*15)" "9" "0000195193" "00007320" "77" "1816" "0" "1816" "0" "c.1816del" "r.(?)" "p.(Trp606Glyfs*15)" "9" "0000195194" "00007320" "77" "1817" "0" "1817" "0" "c.1817G>A" "r.(?)" "p.(Trp606*)" "9" "0000195195" "00007320" "55" "1817" "0" "1817" "0" "c.1817G>A" "r.(?)" "p.(Trp606*)" "9" "0000195196" "00007320" "77" "1818" "0" "1818" "0" "c.1818G>A" "r.(?)" "p.(Trp606*)" "9" "0000195197" "00007320" "77" "1819" "0" "1819" "0" "c.1819G>T" "r.(?)" "p.(Gly607*)" "9" "0000195198" "00007320" "77" "1835" "0" "1835" "0" "c.1835G>A" "r.(?)" "p.(Trp612*)" "9" "0000195199" "00007320" "77" "1835" "0" "1835" "0" "c.1835G>A" "r.(?)" "p.(Trp612*)" "9" "0000195200" "00007320" "77" "1836" "0" "1836" "0" "c.1836G>A" "r.(?)" "p.(Trp612*)" "9" "0000195201" "00007320" "55" "1842" "0" "1842" "0" "c.1842C>T" "r.(=)" "p.(=)" "9" "0000195202" "00007320" "77" "1859" "0" "1883" "11" "c.1859_1883+11del" "r.spl?" "p.?" "9" "0000195203" "00007320" "77" "1864" "0" "1864" "0" "c.1864G>T" "r.(?)" "p.(Gly622*)" "9" "0000195204" "00007320" "77" "1865" "0" "1865" "0" "c.1865del" "r.(?)" "p.(Gly622Glufs*21)" "9" "0000195205" "00007320" "77" "1865" "0" "1865" "0" "c.1865del" "r.(?)" "p.(Gly622Glufs*21)" "9" "0000195206" "00007320" "77" "1879" "0" "1881" "0" "c.1879_1881del" "r.(?)" "p.(His627del)" "9" "0000195207" "00007320" "77" "1883" "1" "1883" "1" "c.1883+1G>C" "r.spl?" "p.?" "9i" "0000195208" "00007320" "77" "1883" "1" "1883" "1" "c.1883+1G>C" "r.spl?" "p.?" "9i" "0000195209" "00007320" "77" "1883" "2" "1883" "2" "c.1883+2T>G" "r.spl?" "p.?" "9i" "0000195210" "00007320" "77" "1883" "2" "1883" "2" "c.1883+2T>G" "r.spl?" "p.?" "9i" "0000195211" "00007320" "77" "1883" "2" "1883" "2" "c.1883+2T>G" "r.spl?" "p.?" "9i" "0000195212" "00007320" "77" "1894" "0" "1894" "0" "c.1894dup" "r.(?)" "p.(Tyr632Leufs*22)" "10" "0000195213" "00007320" "77" "1896" "0" "1896" "0" "c.1896C>A" "r.(?)" "p.(Tyr632*)" "10" "0000195214" "00007320" "77" "1896" "0" "1896" "0" "c.1896C>G" "r.(?)" "p.(Tyr632*)" "10" "0000195215" "00007320" "77" "1897" "0" "1897" "0" "c.1897del" "r.(?)" "p.(Leu633Tyrfs*10)" "10" "0000195216" "00007320" "77" "1906" "0" "1906" "0" "c.1906del" "r.(?)" "p.(His636Ilefs*7)" "10" "0000195217" "00007320" "77" "1913" "0" "1916" "0" "c.1913_1916dup" "r.(?)" "p.(Leu642Glnfs*13)" "10" "0000195218" "00007320" "77" "1913" "0" "1916" "0" "c.1913_1916dup" "r.(?)" "p.(Leu642Glnfs*13)" "10" "0000195219" "00007320" "77" "1921" "0" "1924" "0" "c.1921_1924del" "r.(?)" "p.(Ser641*)" "10" "0000195220" "00007320" "77" "1921" "0" "1924" "0" "c.1921_1924dup" "r.(?)" "p.(Leu642Glnfs*13)" "10" "0000195221" "00007320" "77" "1942" "0" "1942" "0" "c.1942C>T" "r.(?)" "p.(Gln648*)" "10" "0000195222" "00007320" "77" "1948" "0" "1955" "0" "c.1948_1955del" "r.(?)" "p.(Ala650*)" "10" "0000195223" "00007320" "77" "1981" "0" "1981" "0" "c.1981del" "r.(?)" "p.(Val661Cysfs*4)" "10" "0000195224" "00007320" "77" "1982" "0" "1982" "0" "c.1982del" "r.(?)" "p.(Val661Glyfs*4)" "10" "0000195225" "00007320" "77" "2020" "0" "2020" "0" "c.2020C>T" "r.(?)" "p.(Gln674*)" "10" "0000195226" "00007320" "77" "2020" "0" "2020" "0" "c.2020C>T" "r.(?)" "p.(Gln674*)" "10" "0000195227" "00007320" "77" "2020" "0" "2020" "0" "c.2020C>T" "r.(?)" "p.(Gln674*)" "10" "0000195228" "00007320" "77" "2021" "0" "2021" "0" "c.2021del" "r.(?)" "p.(Gln674Argfs*9)" "10" "0000195229" "00007320" "77" "2023" "0" "2023" "0" "c.2023A>T" "r.(?)" "p.(Lys675*)" "10" "0000195230" "00007320" "77" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Gln677*)" "10" "0000195231" "00007320" "77" "2034" "0" "2034" "0" "c.2034T>G" "r.(?)" "p.(Tyr678*)" "10" "0000195232" "00007320" "77" "2038" "0" "2038" "0" "c.2038G>T" "r.(?)" "p.(Glu680*)" "10" "0000195233" "00007320" "77" "2050" "0" "2054" "0" "c.2050_2054delins13" "r.(?)" "p.(?)" "10" "0000195234" "00007320" "77" "2051" "0" "2051" "0" "c.2051del" "r.(?)" "p.(Gly684Aspfs*22)" "10" "0000195235" "00007320" "77" "2053" "0" "2053" "0" "c.2053C>T" "r.(?)" "p.(Gln685*)" "10" "0000195236" "00007320" "77" "2053" "0" "2053" "0" "c.2053C>T" "r.(?)" "p.(Gln685*)" "10" "0000195237" "00007320" "77" "2053" "0" "2053" "0" "c.2053C>T" "r.(?)" "p.(Gln685*)" "10" "0000195238" "00007320" "77" "2075" "0" "2075" "0" "c.2075G>A" "r.(?)" "p.(Trp692*)" "11" "0000195239" "00007320" "77" "2085" "0" "2097" "0" "c.2085_2097del" "r.(?)" "p.(Asp696Serfs*6)" "11" "0000195240" "00007320" "77" "2093" "0" "2094" "0" "c.2093_2094del" "r.(?)" "p.(Phe698Cysfs*32)" "11" "0000195241" "00007320" "77" "2098" "0" "2098" "0" "c.2098C>T" "r.(?)" "p.(Gln700*)" "11" "0000195242" "00007320" "77" "2098" "0" "2098" "0" "c.2098C>T" "r.(?)" "p.(Gln700*)" "11" "0000195243" "00007320" "77" "2101" "0" "2101" "0" "c.2101C>T" "r.(?)" "p.(Arg701*)" "11" "0000195244" "00007320" "75" "2101" "0" "2101" "0" "c.2101C>T" "r.(?)" "p.(Arg701*)" "11" "0000195245" "00007320" "77" "2104" "0" "2104" "0" "c.2104C>T" "r.(?)" "p.(Gln702*)" "11" "0000195246" "00007320" "77" "2120" "0" "2120" "0" "c.2120del" "r.(?)" "p.(Thr707Serfs*11)" "11" "0000195247" "00007320" "77" "2133" "0" "2143" "0" "c.2133_2143del" "r.(?)" "p.(Trp711Cysfs*16)" "11" "0000195248" "00007320" "55" "2385" "0" "2385" "0" "c.*144del" "r.(=)" "p.(=)" "11" "0000223729" "00007320" "77" "0" "" "0" "" "c.(-1::*1)" "r.?" "p.?" "0" "0000223730" "00007320" "77" "0" "" "0" "" "c.(962+15747::962+84215)" "r.?" "p.?" "0" "0000255529" "00007320" "90" "1469" "0" "1469" "0" "c.1469del" "r.(?)" "p.(Leu490ArgfsTer9)" "" "0000267922" "00007320" "10" "1761" "0" "1761" "0" "c.1761G>A" "r.(?)" "p.(Glu587=)" "" "0000268930" "00007320" "10" "114" "0" "114" "0" "c.114A>G" "r.(?)" "p.(Glu38=)" "" "0000268931" "00007320" "10" "117" "0" "117" "0" "c.117A>G" "r.(?)" "p.(Glu39=)" "" "0000268932" "00007320" "10" "2148" "0" "2148" "0" "c.2148G>A" "r.(?)" "p.(Pro716=)" "" "0000268933" "00007320" "30" "400" "0" "400" "0" "c.400A>G" "r.(?)" "p.(Ile134Val)" "" "0000268934" "00007320" "30" "962" "8" "962" "11" "c.962+8_962+11del" "r.(=)" "p.(=)" "" "0000276429" "00007320" "90" "1056" "1" "1056" "1" "c.1056+1G>A" "r.spl?" "p.?" "" "0000276430" "00007320" "30" "1359" "0" "1359" "0" "c.1359C>T" "r.(?)" "p.(Phe453=)" "" "0000276431" "00007320" "90" "1418" "-1" "1418" "-1" "c.1418-1G>T" "r.spl?" "p.?" "" "0000276433" "00007320" "90" "1537" "-1" "1537" "-1" "c.1537-1G>C" "r.spl?" "p.?" "" "0000276434" "00007320" "90" "1697" "0" "1698" "0" "c.1697_1698del" "r.(?)" "p.(Glu566GlyfsTer21)" "" "0000276435" "00007320" "90" "1705" "0" "1705" "0" "c.1705del" "r.(?)" "p.(Val569CysfsTer52)" "" "0000276436" "00007320" "90" "1722" "1" "1722" "1" "c.1722+1G>T" "r.spl?" "p.?" "" "0000276437" "00007320" "90" "1773" "0" "1773" "0" "c.1773del" "r.(?)" "p.(Tyr592ThrfsTer29)" "" "0000276438" "00007320" "90" "1884" "-1" "1884" "-1" "c.1884-1G>C" "r.spl?" "p.?" "" "0000276439" "00007320" "90" "204" "0" "205" "0" "c.204_205del" "r.(?)" "p.(Trp68Ter)" "" "0000276440" "00007320" "90" "2133" "0" "2151" "0" "c.2133_2151del" "r.(?)" "p.(Trp711Ter)" "" "0000276441" "00007320" "90" "456" "0" "456" "0" "c.456C>A" "r.(?)" "p.(Cys152Ter)" "" "0000276443" "00007320" "90" "679" "0" "679" "0" "c.679del" "r.(?)" "p.(Arg227AspfsTer25)" "" "0000276444" "00007320" "90" "703" "0" "717" "0" "c.703_717del" "r.(?)" "p.(Pro235_Lys239del)" "" "0000276446" "00007320" "90" "789" "0" "796" "0" "c.789_796del" "r.(?)" "p.(Met263IlefsTer23)" "" "0000276447" "00007320" "90" "962" "3" "962" "6" "c.962+3_962+6del" "r.spl?" "p.?" "" "0000345384" "00007320" "50" "1108" "0" "1108" "0" "c.1108G>C" "r.(?)" "p.(Glu370Gln)" "" "0000369936" "00007320" "70" "1417" "1" "1417" "1" "c.1417+1del" "r.spl" "p.?" "5i" "0000439899" "00007320" "90" "64" "0" "71" "0" "c.64_71del" "r.(?)" "p.(Tyr22Argfs*5)" "1" "0000439900" "00007320" "90" "173" "0" "173" "0" "c.173del" "r.(?)" "p.(Phe58Serfs*78)" "1" "0000439901" "00007320" "90" "173" "0" "173" "0" "c.173del" "r.(?)" "p.(Phe58Serfs*78)" "1" "0000439902" "00007320" "90" "173" "0" "173" "0" "c.173del" "r.(?)" "p.(Phe58Serfs*78)" "1" "0000439903" "00007320" "90" "250" "0" "250" "0" "c.250C>T" "r.(?)" "p.(Gln84*)" "1" "0000439904" "00007320" "90" "250" "0" "250" "0" "c.250C>T" "r.(?)" "p.(Gln84*)" "1" "0000439905" "00007320" "90" "250" "0" "250" "0" "c.250C>T" "r.(?)" "p.(Gln84*)" "1" "0000439906" "00007320" "90" "262" "0" "262" "0" "c.262dup" "r.(?)" "p.(Ala88Glyfs*101)" "1" "0000439907" "00007320" "90" "301" "0" "301" "0" "c.301del" "r.(?)" "p.(Glu101Serfs*35)" "1" "0000439908" "00007320" "90" "351" "0" "351" "0" "c.351C>G" "r.(?)" "p.(Tyr117*)" "1" "0000439909" "00007320" "90" "351" "0" "351" "0" "c.351C>G" "r.(?)" "p.(Tyr117*)" "1" "0000439910" "00007320" "90" "437" "0" "437" "0" "c.437del" "r.(?)" "p.(Ser146Trpfs*11)" "1" "0000439911" "00007320" "90" "500" "0" "500" "0" "c.500C>A" "r.(?)" "p.(Ser167*)" "1" "0000439912" "00007320" "90" "552" "0" "552" "0" "c.552G>A" "r.(?)" "p.(Trp184*)" "1" "0000439913" "00007320" "90" "60" "0" "64" "0" "c.60_64del" "r.(?)" "p.(Tyr22Argfs*6)" "1" "0000439914" "00007320" "90" "60" "0" "64" "0" "c.60_64del" "r.(?)" "p.(Tyr22Argfs*6)" "1" "0000439915" "00007320" "90" "600" "0" "600" "0" "c.600G>A" "r.(?)" "p.(Trp200*)" "1" "0000439916" "00007320" "90" "620" "0" "620" "0" "c.620del" "r.(?)" "p.(Val207Glyfs*45)" "1" "0000439917" "00007320" "90" "620" "0" "620" "0" "c.620del" "r.(?)" "p.(Val207Glyfs*45)" "1" "0000439918" "00007320" "90" "637" "0" "637" "0" "c.637C>T" "r.(?)" "p.(Gln213*)" "1" "0000439919" "00007320" "90" "742" "0" "742" "0" "c.742del" "r.(?)" "p.(Arg248Glyfs*4)" "1" "0000439920" "00007320" "90" "752" "0" "752" "0" "c.752del" "r.(?)" "p.(Leu251*)" "1" "0000439921" "00007320" "90" "796" "0" "797" "0" "c.796_797delinsN[?]" "r.(?)" "p.(Lys267Serfs*7)" "1" "0000439922" "00007320" "90" "806" "0" "807" "0" "c.806_807delinsN[?]" "r.(?)" "p.(Tyr271Glyfs*3)" "1" "0000439923" "00007320" "90" "808" "0" "808" "0" "c.808A>T" "r.(?)" "p.(Arg270Trp)" "1" "0000439924" "00007320" "90" "838" "0" "838" "0" "c.838A>G" "r.(?)" "p.(Arg280Gly)" "1" "0000439925" "00007320" "90" "943" "0" "944" "0" "c.943_944del" "r.(?)" "p.(Asp315Glnfs*5)" "1" "0000439926" "00007320" "90" "-773" "0" "962" "1" "c.-773_(962+1_963-1)del" "r.0?" "p.0?" "_1_1i" "0000439927" "00007320" "90" "966" "0" "966" "0" "c.966T>G" "r.(?)" "p.(Tyr322*)" "2" "0000439928" "00007320" "90" "1018" "0" "1018" "0" "c.1018C>T" "r.(?)" "p.(Arg340Cys)" "2" "0000439929" "00007320" "90" "1019" "0" "1019" "0" "c.1019G>A" "r.(?)" "p.(Arg340His)" "2" "0000439930" "00007320" "90" "1019" "0" "1019" "0" "c.1019G>A" "r.(?)" "p.(Arg340His)" "2" "0000439931" "00007320" "90" "1019" "0" "1019" "0" "c.1019G>A" "r.(?)" "p.(Arg340His)" "2" "0000439932" "00007320" "90" "1019" "0" "1019" "0" "c.1019G>A" "r.(?)" "p.(Arg340His)" "2" "0000439933" "00007320" "90" "1031" "0" "1031" "0" "c.1031C>T" "r.(?)" "p.(Ser344Phe)" "2" "0000439934" "00007320" "90" "1064" "0" "1064" "0" "c.1064G>T" "r.(?)" "p.(Cys355Phe)" "3" "0000439935" "00007320" "90" "1065" "0" "1065" "0" "c.1065C>A" "r.(?)" "p.(Cys355*)" "3" "0000439936" "00007320" "90" "1065" "0" "1065" "0" "c.1065C>A" "r.(?)" "p.(Cys355*)" "3" "0000439937" "00007320" "90" "1091" "0" "1091" "0" "c.1091G>A" "r.(?)" "p.(Trp364*)" "3" "0000439938" "00007320" "90" "1091" "0" "1091" "0" "c.1091G>A" "r.(?)" "p.(Trp364*)" "3" "0000439939" "00007320" "90" "1160" "0" "1160" "0" "c.1160del" "r.(?)" "p.(Leu387Tyrfs*16)" "3" "0000439940" "00007320" "90" "1162" "0" "1162" "0" "c.1162C>T" "r.(?)" "p.(Gln388*)" "3" "0000439941" "00007320" "90" "1164" "1" "1164" "1" "c.1164+1G>A" "r.spl" "p.?" "3i" "0000439942" "00007320" "90" "1213" "0" "1213" "0" "c.1213A>T" "r.(?)" "p.(Arg405*)" "4" "0000439943" "00007320" "90" "1278" "0" "1279" "0" "c.1278_1279del" "r.(?)" "p.(Leu427Argfs*14)" "4" "0000439944" "00007320" "90" "1284" "1" "1284" "1" "c.1284+1G>T" "r.spl" "p.?" "4i" "0000439945" "00007320" "90" "1284" "1" "1284" "1" "c.1284+1G>A" "r.spl" "p.?" "4i" "0000439946" "00007320" "90" "1285" "-2" "1285" "-2" "c.1285-2A>G" "r.spl" "p.?" "4i" "0000439947" "00007320" "90" "1316" "0" "1316" "0" "c.1316C>G" "r.(?)" "p.(Ser439*)" "5" "0000439948" "00007320" "90" "1335" "0" "1335" "0" "c.1335G>A" "r.(?)" "p.(Trp445*)" "5" "0000439949" "00007320" "90" "1335" "0" "1335" "0" "c.1335G>A" "r.(?)" "p.(Trp445*)" "5" "0000439950" "00007320" "90" "1396" "0" "1399" "0" "c.1396_1399del" "r.(?)" "p.(Pro466Thrfs*6)" "5" "0000439951" "00007320" "90" "1418" "-2" "1418" "-2" "c.1418-2A>G" "r.spl" "p.?" "5i" "0000439952" "00007320" "90" "1425" "0" "1425" "0" "c.1425del" "r.(?)" "p.(Lys475Asnfs*13)" "6" "0000439953" "00007320" "90" "1425" "0" "1425" "0" "c.1425del" "r.(?)" "p.(Lys475Asnfs*13)" "6" "0000439954" "00007320" "90" "1469" "0" "1469" "0" "c.1469del" "r.(?)" "p.(Leu490Argfs*9)" "6" "0000439955" "00007320" "90" "1483" "0" "1483" "0" "c.1483C>T" "r.(?)" "p.(Gln495*)" "6" "0000439956" "00007320" "90" "1490" "0" "1490" "0" "c.1490del" "r.(?)" "p.(Val497Glyfs*2)" "6" "0000439957" "00007320" "90" "1522" "0" "1522" "0" "c.1522C>T" "r.(?)" "p.(Gln508*)" "6" "0000439958" "00007320" "90" "1536" "1" "1536" "1" "c.1536+1G>T" "r.spl" "p.?" "6i" "0000439959" "00007320" "90" "1537" "-1" "1537" "-1" "c.1537-1G>T" "r.spl" "p.?" "6i" "0000439960" "00007320" "90" "1537" "-2" "1537" "-2" "c.1537-2A>T" "r.spl" "p.?" "6i" "0000439961" "00007320" "90" "1633" "-2" "1633" "-2" "c.1633-2A>T" "r.spl" "p.?" "7i" "0000439962" "00007320" "90" "1642" "0" "1642" "0" "c.1642del" "r.(?)" "p.(Ser548Alafs*73)" "8" "0000439963" "00007320" "90" "1714" "0" "1714" "0" "c.1714del" "r.(?)" "p.(Thr572Glnfs*49)" "8" "0000439964" "00007320" "90" "1714" "0" "1714" "0" "c.1714del" "r.(?)" "p.(Thr572Glnfs*49)" "8" "0000439965" "00007320" "90" "1746" "0" "1746" "0" "c.1746G>A" "r.(?)" "p.(Trp582*)" "9" "0000439966" "00007320" "90" "1757" "0" "1758" "0" "c.1757_1758del" "r.(?)" "p.(Pro586Argfs*15)" "9" "0000439967" "00007320" "90" "1759" "0" "1759" "0" "c.1759G>T" "r.(?)" "p.(Glu587*)" "9" "0000439968" "00007320" "90" "1797" "0" "1797" "0" "c.1797G>A" "r.(?)" "p.(Trp599*)" "9" "0000439969" "00007320" "90" "1841" "0" "1841" "0" "c.1841del" "r.(?)" "p.(Asn614Thrfs*7)" "9" "0000439970" "00007320" "90" "1921" "0" "1922" "0" "c.1921_1922insAGCC" "r.(?)" "p.(Ser641Lysfs*14)" "10" "0000439971" "00007320" "90" "1942" "0" "1942" "0" "c.1942C>T" "r.(?)" "p.(Gln648*)" "10" "0000439972" "00007320" "90" "2071" "0" "2071" "0" "c.2071dup" "r.(?)" "p.(Arg691Profs*4)" "11" "0000439973" "00007320" "90" "2098" "0" "2098" "0" "c.2098C>T" "r.(?)" "p.(Gln700*)" "11" "0000439974" "00007320" "90" "0" "0" "0" "0" "c.-773_*349{0}" "r.?" "p.?" "1_11" "0000472715" "00007320" "50" "1129" "0" "1129" "0" "c.1129G>A" "r.(?)" "p.(Ala377Thr)" "" "0000533679" "00007320" "50" "2173" "0" "2173" "0" "c.2173G>A" "r.(?)" "p.(Asp725Asn)" "" "0000533680" "00007320" "30" "1674" "0" "1674" "0" "c.1674A>G" "r.(?)" "p.(Thr558=)" "" "0000533681" "00007320" "30" "1659" "0" "1659" "0" "c.1659C>T" "r.(?)" "p.(Tyr553=)" "" "0000533682" "00007320" "90" "1476" "0" "1477" "0" "c.1476_1477del" "r.(?)" "p.(Gln493ValfsTer27)" "" "0000533683" "00007320" "90" "1468" "0" "1468" "0" "c.1468dup" "r.(?)" "p.(Leu490ProfsTer31)" "" "0000533684" "00007320" "30" "962" "8" "962" "11" "c.962+8_962+11del" "r.(=)" "p.(=)" "" "0000533685" "00007320" "90" "818" "0" "823" "0" "c.818_823delinsAAGGC" "r.(?)" "p.(Thr273LysfsTer3)" "" "0000533686" "00007320" "90" "742" "0" "743" "0" "c.742_743dup" "r.(?)" "p.(Phe250GlyfsTer3)" "" "0000533687" "00007320" "90" "621" "0" "625" "0" "c.621_625dup" "r.(?)" "p.(Phe209TrpfsTer45)" "" "0000533688" "00007320" "30" "418" "0" "418" "0" "c.418G>A" "r.(?)" "p.(Gly140Ser)" "" "0000533689" "00007320" "90" "56" "0" "59" "0" "c.56_59del" "r.(?)" "p.(Leu19ArgfsTer116)" "" "0000611421" "00007320" "50" "5" "0" "5" "0" "c.5A>G" "r.(?)" "p.(Gln2Arg)" "" "0000621986" "00007320" "30" "1609" "0" "1609" "0" "c.1609G>A" "r.(?)" "p.(Val537Ile)" "" "0000621987" "00007320" "30" "1066" "0" "1066" "0" "c.1066G>A" "r.(?)" "p.(Val356Ile)" "" "0000659581" "00007320" "90" "1722" "1" "1722" "1" "c.1722+1G>T" "r.(?)" "p.(?)" "" "0000675376" "00007320" "90" "1537" "-1" "2055" "1" "c.(1536+1_1537-1)_(2055+1_2056-1)del" "r.(1537_2055)del" "p.(Ile513_Gln685del)" "" "0000682779" "00007320" "10" "1761" "0" "1761" "0" "c.1761G>A" "r.(=)" "p.(Glu587=)" "" "0000682780" "00007320" "90" "1902" "0" "1902" "0" "c.1902C>A" "r.(?)" "p.(Tyr634*)" "" "0000682781" "00007320" "10" "1065" "0" "1065" "0" "c.1065C>T" "r.(=)" "p.(Cys355=)" "" "0000683272" "00007320" "70" "1259" "0" "1259" "0" "c.1259del" "r.(?)" "p.(Glu420Glyfs*5)" "" "0000690147" "00007320" "30" "108" "0" "108" "0" "c.108G>A" "r.(?)" "p.(Arg36=)" "" "0000721775" "00007320" "30" "337" "0" "337" "0" "c.337G>A" "r.(?)" "p.(Gly113Ser)" "" "0000721776" "00007320" "50" "8" "0" "8" "0" "c.8C>T" "r.(?)" "p.(Ala3Val)" "" "0000729931" "00007320" "90" "2132" "0" "2132" "0" "c.2132G>A" "r.(?)" "p.(Trp711*)" "" "0000731295" "00007320" "90" "1015" "0" "1015" "0" "c.1015G>A" "r.(?)" "p.(Gly339Ser)" "" "0000731297" "00007320" "90" "1736" "0" "1737" "0" "c.1736_1737del" "r.(?)" "p.(Phe579Tyrfs*8)" "" "0000731298" "00007320" "90" "1634" "0" "1634" "0" "c.1634T>A" "r.(?)" "p.(Val545Asp)" "" "0000798382" "00007320" "70" "1417" "1" "1417" "1" "c.1417+1G>C" "r.spl" "p.?" "5i" "0000803429" "00007320" "30" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Glu72Lys)" "" "0000803430" "00007320" "50" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Glu72Lys)" "" "0000803431" "00007320" "30" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Ser41Asn)" "" "0000851787" "00007320" "30" "1632" "0" "1632" "0" "c.1632G>A" "r.(?)" "p.(Lys544=)" "" "0000851788" "00007320" "10" "1431" "0" "1431" "0" "c.1431C>T" "r.(?)" "p.(Pro477=)" "" "0000851789" "00007320" "10" "1065" "0" "1065" "0" "c.1065C>T" "r.(?)" "p.(Cys355=)" "" "0000861051" "00007320" "90" "2101" "0" "2101" "0" "c.2101C>T" "r.(?)" "p.(Arg701*)" "" "0000861053" "00007320" "70" "109" "0" "109" "0" "c.109A>T" "r.(?)" "p.(Arg37*)" "" "0000873509" "00007320" "70" "957" "0" "957" "0" "c.957T>G" "r.(?)" "p.(Tyr319*)" "" "0000888139" "00007320" "30" "1660" "0" "1660" "0" "c.1660G>A" "r.(?)" "p.(Asp554Asn)" "" "0000888140" "00007320" "30" "1430" "0" "1430" "0" "c.1430C>G" "r.(?)" "p.(Pro477Arg)" "" "0000888141" "00007320" "30" "1066" "0" "1066" "0" "c.1066G>A" "r.(?)" "p.(Val356Ile)" "" "0000888142" "00007320" "90" "1028" "0" "1031" "0" "c.1028_1031del" "r.(?)" "p.(Gly343Alafs*15)" "" "0000909178" "00007320" "70" "764" "-1" "1182" "1" "c.(764-10000_764-1)_(1182+1_1182+20000)del" "r.?" "p.?" "" "0000909179" "00007320" "70" "" "0" "" "0" "c.(1515-10000_1515-1)_*1233{0}" "r.?" "p.?" "" "0000909180" "00007320" "70" "" "0" "" "0" "c.(1515-10000_1515-1)_*1233{0}" "r.?" "p.?" "" "0000922157" "00007320" "90" "1165" "-2" "1165" "-2" "c.1165-2A>G" "r.spl" "p.?" "" "0000922782" "00007320" "90" "1459" "0" "1459" "0" "c.1459del" "r.(?)" "p.(Val487Ter)" "" "0000924819" "00007320" "30" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Ser41Asn)" "" "0000927510" "00007320" "90" "1453" "0" "1454" "0" "c.1453_1454del" "r.(?)" "p.(His485CysfsTer35)" "" "0000931618" "00007320" "90" "1659" "0" "1659" "0" "c.1659C>A" "r.(?)" "p.(Tyr553Ter)" "" "0000931626" "00007320" "90" "1887" "0" "1887" "0" "c.1887T>A" "r.(?)" "p.(Tyr629Ter)" "" "0000933291" "00007320" "90" "747" "0" "747" "0" "c.747dup" "r.(?)" "p.(Phe250ValfsTer39)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 811 "{{screeningid}}" "{{variantid}}" "0000081384" "0000130513" "0000103671" "0000167144" "0000105183" "0000170458" "0000118426" "0000194531" "0000118427" "0000194532" "0000118428" "0000194533" "0000118429" "0000194534" "0000118430" "0000194535" "0000118431" "0000194536" "0000118432" "0000194537" "0000118433" "0000194538" "0000118434" "0000194539" "0000118435" "0000194540" "0000118436" "0000194541" "0000118437" "0000194542" "0000118441" "0000194546" "0000118442" "0000194547" "0000118443" "0000194548" "0000118444" "0000194549" "0000118445" "0000194550" "0000118446" "0000194551" "0000118447" "0000194552" "0000118448" "0000194553" "0000118449" "0000194554" "0000118450" "0000194555" "0000118451" "0000194556" "0000118452" "0000194557" "0000118453" "0000194558" "0000118454" "0000194559" "0000118455" "0000194560" "0000118456" "0000194561" "0000118457" "0000194562" "0000118458" "0000194563" "0000118459" "0000194564" "0000118460" "0000194565" "0000118461" "0000194566" "0000118462" "0000194567" "0000118463" "0000194568" "0000118464" "0000194569" "0000118465" "0000194570" "0000118466" "0000194571" "0000118467" "0000194572" "0000118468" "0000194573" "0000118469" "0000194574" "0000118470" "0000194575" "0000118471" "0000194576" "0000118472" "0000194577" "0000118473" "0000194578" "0000118474" "0000194579" "0000118475" "0000194580" "0000118476" "0000194581" "0000118477" "0000194582" "0000118478" "0000194583" "0000118479" "0000194584" "0000118480" "0000194585" "0000118481" "0000194586" "0000118482" "0000194587" "0000118483" "0000194588" "0000118484" "0000194589" "0000118485" "0000194590" "0000118486" "0000194591" "0000118487" "0000194592" "0000118488" "0000194593" "0000118489" "0000194594" "0000118490" "0000194595" "0000118491" "0000194596" "0000118492" "0000194597" "0000118493" "0000194598" "0000118494" "0000194599" "0000118495" "0000194600" "0000118496" "0000194601" "0000118497" 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