### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PAX3) # 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}}" "PAX3" "paired box 3" "2" "q36.1" "unknown" "NG_011632.1" "UD_132084404190" "" "https://www.LOVD.nl/PAX3" "" "1" "8617" "5077" "606597" "1" "1" "1" "1" "Initiated as Waardenburg syndrome gene variant databases by Veronique Pingault.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/PAX3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2009-10-02 00:00:00" "00006" "2020-10-28 15:37:08" "00000" "2026-01-20 18:57:21" ## 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}}" "00024240" "PAX3" "transcript variant PAX3" "006" "NM_181457.3" "" "NP_852122.1" "" "" "" "-381" "1651" "1440" "223163715" "223066432" "00006" "2017-03-06 20:04:01" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00982" "WS4A" "Waardenburg syndrome, type 4A (WS4A)" "AD;AR" "277580" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01271" "CDHS" "craniofacial deafness hand syndrome (CDHS)" "AD" "122880" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01408" "WS3" "Waardenburg syndrome, type 3 (WS3)" "AD;AR" "148820" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01604" "WS1" "Waardenburg syndrome, type 1 (WS1)" "AD" "193500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02059" "RMS2" "rhabdomyosarcoma, type 2 (RMS2)" "SMo" "268220" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-10-26 16:33:34" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "05103" "deafness" "deafness" "" "" "" "" "" "00006" "2015-12-02 12:30:46" "00006" "2017-08-25 19:47:08" "05667" "WS" "Waardenburg syndrome (WS)" "" "" "" "" "" "00008" "2019-10-30 16:28:42" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{geneid}}" "{{diseaseid}}" "PAX3" "01271" "PAX3" "01408" "PAX3" "01604" "PAX3" "02059" "PAX3" "05667" ## Individuals ## Do not remove or alter this header ## ## Count = 214 "{{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}}" "00050588" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected sibling(s)" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00100622" "" "" "" "1" "" "01741" "" "" "" "" "Germany" "" "0" "" "" "" "" "00269431" "" "" "" "1" "" "01741" "" "" "" "" "" "" "0" "" "" "" "" "00282193" "" "" "" "1" "" "00004" "{PMID:DeStefano 1998:9654197}" "" "" "" "" "" "0" "" "" "" "" "00282195" "" "" "" "1" "" "00004" "{PMID:Carey 1998:9541113}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00282196" "" "" "" "1" "" "00004" "{PMID:Pingault 2010:20127975}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00282201" "" "" "" "1" "" "00004" "{PMID:Baldwin 1995:8533800}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00282202" "" "" "" "1" "" "00004" "{PMID:Pingault 2010:20127975}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00282207" "" "" "" "1" "" "00004" "{PMID:Hol 1998:9452070}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00282208" "" "" "" "1" "" "00004" "{PMID:Tassabehji 1995:8589691}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00282209" "" "" "" "1" "" "00004" "{PMID:DeStefano 1998:9654197}" "" "" "" "" "" "0" "" "" "" "" "00282212" "" "" "" "1" "" "00004" "{PMID:Lalwani 1995:7825605}, {PMID:Fortin 1997:9302254}" "" "" "" "" "" "0" "" "" "" "" "00282213" "" "" "" "1" "" "00004" "{PMID:Read 1997:9279758}" "" "" "" "" "" "0" "" "" "" "" "00282217" "" "" "" "1" "" "00004" "{PMID:Tassabehji 1995:8589691}" "" "" "" "" "" "0" "" "" "" "" "00282218" "" "" "" "1" "" "00004" "{PMID:Lalwani 1995:7825605}, {PMID:Fortin 1997:9302254}" "" "" "" "" "" "0" "" "" "" "" "00282220" "" "" "" "1" "" "00004" "{PMID:Kujat 2007:17139175}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00282221" "" "" "" "1" "" "00004" "{PMID:Wollnik 2003:12949970}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00282223" "" "" "" "1" "" "00004" "{PMID:Markova 2003:12666593}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00282224" "" "" "" "1" "" "00004" "{PMID:Tassabehji 1995:8589691}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00282225" "" "" "" "1" "" "00004" "{PMID:Tassabehji 1995:8589691}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00282226" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00282230" "" "" "" "1" "" "00004" "{PMID:Baldwin 1995:8533800}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00282233" "" "" "" "1" "" "00004" "{PMID:Baldwin 1994:8019556}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00282235" "" "" "" "1" "" "00004" "{PMID:Pandya 1996:8845842}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00282237" "" "" "" "1" "" "00004" "{PMID:Baldwin 1995:8533800}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00282239" "" "" "" "1" "" "00004" "{PMID:Baldwin 1995:8533800}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00282242" "" "" "" "1" "" "00004" "{PMID:Read 1997:9279758}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00282245" "" "" "" "1" "" "00004" "{PMID:Wang 2010:20664692}" "" "" "" "" "" "0" "" "" "" "" "00282246" "" "" "" "1" "" "00004" "{PMID:Tassabehji 1994:7981674}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00282247" "" "" "" "1" "" "00004" "{PMID:Butt 1994:8162027}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00282248" "" "" "" "1" "" "00004" "{PMID:Tassabehji 1994:7981674}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00282255" "" "" "" "1" "" "00004" "{PMID:Tassabehji 1994:7981674}, {PMID:Fortin 1997:9302254}" "" "" "" "" "" "0" "" "" "" "" "00282256" "" "" "" "1" "" "00004" "{PMID:Pingault 2010:20127975}" "" "" "" "" "" "0" "" "" "" "" "00282260" "" "" "" "1" "" "00004" "{PMID:Morell 1992:1303193}" "" "" "" "" "" "0" "" "" "" "" "00282264" "" "" "" "1" "" "00004" "{PMID:Milunsky 1993:20301703}, {PMID:Zlotogora 1995:7726174}, {PMID:Alford 2014:24651602}, {PMID:Fortin 1997:9302254}" "" "" "" "" "" "0" "" "" "" "" "00282265" "" "" "" "1" "" "00004" "{PMID:Tassabehji 1995:8589691}, {PMID:Alford 2014:24651602}, {PMID:Hoth 1993:8447316}, {PMID:Milunsky 1993:20301703}, {PMID:Reynolds 1995:7573125}, {PMID:Tassabehji 1993:8490648}, {PMID:Fortin 1997:9302254}" "" "" "" "" "" "0" "" "" "" "" "00282267" "" "" "" "1" "" "00004" "{PMID:Milunsky 1993:20301703}, {PMID:Alford 2014:24651602}, {PMID:Tang 2015:25991456}" "" "" "" "" "" "0" "" "" "" "" "00282268" "" "" "" "1" "" "00004" "{PMID:Alford 2014:24651602}, {PMID:Milunsky 1993:20301703}, {PMID:Chen 2010:20478267}, {PMID:Zhang 2012:21965087}" "" "" "" "" "" "0" "" "" "" "" "00282276" "" "" "" "1" "" "00004" "{PMID:Pierpont 1994:7833953}" "" "" "" "" "" "0" "" "" "" "" "00282278" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00282282" "" "" "" "1" "" "00004" "{PMID:Carezani-Gavin 1992:1308353}, {PMID:Hoth 1993:8447316}, {PMID:Milunsky 1993:20301703}, {PMID:Alford 2014:24651602}, {PMID:Fortin 1997:9302254}, {PMID:Armoni 2002:12414908}" "" "" "" "" "" "0" "" "" "" "" "00282283" "" "" "" "1" "" "00004" "{PMID:Ptok 2006:16160809}" "" "" "" "" "" "0" "" "" "" "" "00282284" "" "" "" "1" "" "00004" "{PMID:Baldwin 1992:1347149}, {PMID:Milunsky 1993:20301703}, {PMID:Alford 2014:24651602}, {PMID:da-Silva 1991:1887852}, {PMID:Fortin 1997:9302254}" "" "" "" "" "" "0" "" "" "" "" "00282288" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00282289" "" "" "" "1" "" "00004" "{PMID:Sommer 1983:6859126}, {PMID:Asher JH Jr 1996:8664898}" "" "" "" "" "" "0" "" "" "" "" "00282290" "" "" "" "1" "" "00004" "{PMID:Sheffer 1992:1536170}, {PMID:Goodman 1982:7091186}, {PMID:Hoth 1993:8447316}, {PMID:Fortin 1997:9302254}" "" "" "" "" "" "0" "" "" "" "" "00282291" "" "" "" "1" "" "00004" "{PMID:Tassabehji 1994:7981674}, {PMID:Fortin 1997:9302254}" "" "" "" "" "" "0" "" "" "" "" "00282297" "" "" "" "1" "" "00004" "{PMID:Ptok 2006:16160809}" "" "" "" "" "" "0" "" "" "" "" "00292615" "" "" "" "105" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304791" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00315611" "" "" "" "3" "" "03808" "{PMID:Yang 2013:22320238}" "2-generation family, 3 affected" "M" "" "China" "" "0" "" "" "" "FamPatII1" "00315624" "" "" "" "1" "" "03808" "{PMID:Attaie 1997:9232624}" "" "" "" "" "" "0" "" "" "" "" "00315625" "" "" "" "1" "" "03808" "{PMID:Soejima 1997:9067759}" "" "" "" "" "" "0" "" "" "" "" "00315626" "" "" "" "1" "" "03808" "{PMID:Asher (990:2246770}, {PMID:Morell 1993:7902163}" "" "" "" "" "" "0" "" "" "" "" "00315627" "" "" "" "1" "" "03808" "{PMID:Pingault 2010:20127975}" "" "" "" "" "" "0" "" "" "" "" "00315628" "" "" "" "1" "" "03808" "{PMID:Tassabehji 1994:7981674}" "" "" "" "" "" "0" "" "" "" "" "00315629" "" "" "" "1" "" "03808" "{PMID:Sheffer 1992:1536170}, {PMID:Hoth 1993:8447316}" "" "" "" "" "" "0" "" "" "" "" "00315630" "" "" "" "1" "" "03808" "{PMID:Asher 1996:8664898}" "" "" "" "" "" "0" "" "" "" "" "00315631" "" "" "" "1" "" "03808" "{PMID:Pandya 1996:8845842}" "" "" "" "United Kingdom (Great Britain);United States" "" "0" "" "" "Ireland; native American" "" "00315632" "" "" "" "1" "" "03808" "{PMID:Wollnik 2003:12949970}" "" "" "" "Turkey" "" "0" "" "" "" "" "00315633" "" "" "" "1" "" "03808" "{PMID:[Da-Silva (1991)]:1887852}" "" "" "" "Brazil" "" "0" "" "" "" "" "00315634" "" "" "" "1" "" "03808" "{PMID:Carezani-Gavin 1992:1308353}, {PMID:Hoth 1993:8447316}" "" "" "" "" "" "0" "" "" "" "" "00315635" "" "" "" "1" "" "03808" "{PMID:Pingault 2010:20127975}" "" "M" "" "" "" "0" "" "" "" "" "00315636" "" "" "" "1" "" "03808" "{PMID:Pandya 1996:8845842}" "" "" "" "France" "" "0" "" "" "" "" "00315637" "" "" "" "1" "" "03808" "{PMID:Soejima 1997:9067759}" "" "" "" "" "" "0" "" "" "" "" "00315638" "" "" "" "1" "" "03808" "{PMID:Baldwin 1995:8533800}" "" "" "" "" "" "0" "" "" "" "" "00315639" "" "" "" "1" "" "03808" "{PMID:Wollnik 2003:12949970}" "" "" "" "Turkey" "" "0" "" "" "" "" "00315640" "" "" "" "1" "" "03808" "{PMID:Hol 1998:9452070}" "" "" "" "" "" "0" "" "" "" "" "00315641" "" "" "" "1" "" "03808" "{PMID:Foy 1990:2339698}, {PMID:Tassabehji 1992:1347148}" "" "" "" "" "" "0" "" "" "" "" "00315642" "" "" "" "1" "" "03808" "{PMID:Tassabehji 1995:8589691}" "" "" "" "" "" "0" "" "" "" "" "00315643" "" "" "" "1" "" "03808" "{PMID:Pingault 2010:20127975}" "" "" "" "" "" "0" "" "" "" "" "00315644" "" "" "" "1" "" "03808" "{PMID:Sotirova 2000:10779847}" "" "" "" "Iran" "" "0" "" "" "" "" "00315645" "" "" "" "1" "" "03808" "{PMID:Pandya 1996:8845842}" "" "" "" "Italy" "" "0" "" "" "" "" "00315646" "" "" "" "1" "" "03808" "{PMID:Tassabehji 1995:8589691}" "" "" "" "" "" "0" "" "" "" "" "00315647" "" "" "" "1" "" "03808" "{PMID:Pingault 2010:20127975}" "" "" "" "" "" "0" "" "" "" "" "00315648" "" "" "" "1" "" "03808" "{PMID:Tassabehji 1993:8490648}" "Initialy reported as WS2" "" "" "" "" "0" "" "" "" "" "00315649" "" "" "" "1" "" "03808" "{PMID:Zlotogora 1995:7726174}" "" "" "yes" "Palestine" "" "0" "" "" "" "" "00315650" "" "" "" "1" "" "03808" "{PMID:Zlotogora 1995:7726174}" "" "M" "yes" "Palestine" "" "0" "" "" "" "" "00315651" "" "" "" "1" "" "03808" "{PMID:Baldwin 1995:8533800}" "" "" "" "" "" "0" "" "" "" "" "00315652" "" "" "" "1" "" "03808" "{PMID:Morell 1992:1303193}" "" "" "" "Indonesia" "" "0" "" "" "" "" "00315653" "" "" "" "1" "" "03808" "{PMID:Wollnik 2003:12949970}" "" "" "yes" "Turkey" "" "0" "" "" "" "" "00315654" "" "" "" "1" "" "03808" "{PMID:Wollnik 2003:12949970}" "" "F" "yes" "Turkey" "" "0" "" "" "" "" "00315655" "" "" "" "1" "" "03808" "{PMID:Foy 1990:2339698}, {PMID:Tassabehji 1993:8490648}" "" "" "" "" "" "0" "" "" "" "" "00315656" "" "" "" "1" "" "03808" "{PMID:Wildhardt 1996:8799378}" "" "" "" "" "" "0" "" "" "" "" "00315657" "" "" "" "1" "" "03808" "Bottani 1999 Am J Hum Genet 65:A143, Klein 1947" "" "F" "" "" "" "0" "" "" "" "" "00315658" "" "" "" "1" "" "03808" "{PMID:Tassabehji 1994:7981674}" "" "" "" "" "" "0" "" "" "" "" "00315659" "" "" "" "1" "" "03808" "{PMID:Baldwin 1994:8019556}" "" "" "" "" "" "0" "" "" "" "" "00315660" "" "" "" "1" "" "03808" "{PMID:Tassabehji 1995:8589691}" "" "" "" "" "" "0" "" "" "" "" "00315661" "" "" "" "1" "" "03808" "{PMID:Tassabehji 1995:8589691}" "" "" "" "" "" "0" "" "" "" "" "00315662" "" "" "" "1" "" "03808" "{PMID:Tekin 2001:11683776}" "" "" "" "" "" "0" "" "" "" "" "00315663" "" "" "" "1" "" "03808" "{PMID:Read 1997:9279758}" "" "" "" "" "" "0" "" "" "" "" "00315664" "" "" "" "1" "" "03808" "{PMID:Pingault 2010:20127975}" "" "M" "" "" "" "0" "" "" "" "" "00315665" "" "" "" "1" "" "03808" "{PMID:Morell 1993:7902163}" "" "" "" "" "" "0" "" "" "" "" "00315666" "" "" "" "1" "" "03808" "{PMID:Butt 1994:8162027}" "" "" "" "South Africa" "" "0" "" "" "" "" "00315667" "" "" "" "1" "" "03808" "{PMID:Tassabehji 1994:7981674}" "" "" "" "" "" "0" "" "" "" "" "00315668" "" "" "" "1" "" "03808" "{PMID:Foy 1990:2339698}, {PMID:Tassabehji 1993:8490648}" "" "" "" "" "" "0" "" "" "" "" "00315669" "" "" "" "1" "" "03808" "{PMID:Read 1997:9279758}" "" "" "" "" "" "0" "" "" "" "" "00315670" "" "" "" "1" "" "03808" "{PMID:Tassabehji 1995:8589691}" "" "M" "" "" "" "0" "" "" "Asian" "" "00315671" "" "" "" "1" "" "03808" "{PMID:Wollnik 2003:12949970}" "" "" "" "Turkey" "" "0" "" "" "" "" "00315672" "" "" "" "1" "" "03808" "{PMID:Baldwin 1995:8533800}" "" "" "" "" "" "0" "" "" "" "" "00315673" "" "" "" "1" "" "03808" "{PMID:Hol 1995:7897628}" "" "" "" "" "" "0" "" "" "" "" "00315674" "" "" "" "1" "" "03808" "{PMID:Baldwin 1995:8533800}" "" "" "" "" "" "0" "" "" "" "" "00315675" "" "" "" "1" "" "03808" "{PMID:Yang 2007:17254487}" "" "" "" "China" "" "0" "" "" "" "" "00315676" "" "" "" "1" "" "03808" "{PMID:Pandya 1996:8845842}" "" "" "" "" "" "0" "" "" "" "" "00315677" "" "" "" "1" "" "03808" "{PMID:Pandya 1996:8845842}" "" "" "" "Ireland" "" "0" "" "" "" "" "00315678" "" "" "" "1" "" "03808" "{PMID:Baldwin 1994:8019556}" "" "" "" "" "" "0" "" "" "" "" "00315679" "" "" "" "1" "" "03808" "{PMID:Pandya 1996:8845842}" "" "" "" "Ireland;Italy;United States;Germany" "" "0" "" "" "native American" "" "00315680" "" "" "" "1" "" "03808" "{PMID:Yang 2007:17254487}" "" "" "" "China" "" "0" "" "" "" "" "00315681" "" "" "" "1" "" "03808" "{PMID:Pingault 2010:20127975}" "" "F" "" "" "" "0" "" "" "" "" "00315682" "" "" "" "1" "" "03808" "{PMID:Destefano 1998:9654197}" "" "" "" "" "" "0" "" "" "" "" "00315683" "" "" "" "1" "" "03808" "{PMID:Qin 2006:16971891}" "" "" "" "China" "" "0" "" "" "" "" "00315684" "" "" "" "1" "" "03808" "{PMID:Baldwin 1995:8533800}" "" "" "" "" "" "0" "" "" "" "" "00315685" "" "" "" "1" "" "03808" "{PMID:Pingault 2010:20127975}" "" "F" "" "" "" "0" "" "" "" "" "00315686" "" "" "" "1" "" "03808" "{PMID:Baldwin 1995:8533800}" "" "" "" "" "" "0" "" "" "" "" "00315687" "" "" "" "1" "" "03808" "{PMID:Kozawa 2009:18704124}" "" "F" "" "" "" "0" "" "" "" "" "00315688" "" "" "" "1" "" "03808" "{PMID:Tassabehji 1995:8589691}" "" "" "" "" "" "0" "" "" "" "" "00315689" "" "" "" "1" "" "03808" "{PMID:Tassabehji 1995:8589691}" "" "" "" "" "" "0" "" "" "" "" "00315690" "" "" "" "1" "" "03808" "{PMID:Wollnik 2003:12949970}" "" "" "" "Turkey" "" "0" "" "" "" "" "00315691" "" "" "" "1" "" "03808" "{PMID:Lalwani 1995:7825605}" "" "" "" "" "" "0" "" "" "" "" "00315692" "" "" "" "1" "" "03808" "{PMID:Read 1997:9279758}" "" "" "" "" "" "0" "" "" "" "" "00315693" "" "" "" "1" "" "03808" "{PMID:Tassabehji 1995:8589691}" "" "" "" "" "" "0" "" "" "" "" "00315694" "" "" "" "1" "" "03808" "{PMID:Nakamura 2009:18761541}" "" "F" "" "" "" "0" "" "" "" "" "00315696" "" "" "" "1" "" "03808" "{PMID:Tassabehji 1995:8589691}" "" "" "" "" "" "0" "" "" "" "" "00315697" "" "" "" "1" "" "03808" "{PMID:Pandya 1996:8845842}" "" "" "" "Germany" "" "0" "" "" "" "" "00315698" "" "" "" "1" "" "03808" "{PMID:Read 1997:9279758}" "" "" "" "" "" "0" "" "" "" "" "00315699" "" "" "" "1" "" "03808" "{PMID:Lalwani 1995:7825605}" "" "" "" "" "" "0" "" "" "" "" "00315700" "" "" "" "1" "" "03808" "{PMID:Tassabehji 1995:8589691}" "" "" "" "" "" "0" "" "" "" "" "00315701" "" "" "" "1" "" "03808" "{PMID:Wildhardt 1996:8799378}" "" "" "" "" "" "0" "" "" "" "" "00315702" "" "" "" "1" "" "03808" "{PMID:Morell 1997:9017978}" "" "" "" "" "" "0" "" "" "" "" "00315703" "" "" "" "1" "" "03808" "{PMID:Pingault 2010:20127975}" "" "" "" "" "" "0" "" "" "" "" "00315704" "" "" "" "1" "" "03808" "{PMID:Tassabehji 1995:8589691}" "" "" "" "" "" "0" "" "" "" "" "00315705" "" "" "" "1" "" "03808" "{PMID:Pandya 1996:8845842}" "" "" "" "Germany;Netherlands" "" "0" "" "" "" "" "00315706" "" "" "" "1" "" "03808" "{PMID:Tassabehji 1995:8589691}" "" "" "" "" "" "0" "" "" "" "" "00315707" "" "" "" "1" "" "03808" "{PMID:Morell 1997:9017978}" "" "" "" "" "" "0" "" "" "" "" "00315708" "" "" "" "1" "" "03808" "{PMID:Hol 1998:9452070}" "" "" "" "" "" "0" "" "" "" "" "00315709" "" "" "" "2" "" "03808" "{PMID:Kapur 1991:2036740}, {PMID:Baldwin 1995:8533800}, {PMID:Morell 1997:9017978}" "" "" "" "" "" "0" "" "" "" "" "00315710" "" "" "" "1" "" "03808" "{PMID:Tassabehji 1995:8589691}" "" "" "" "" "" "0" "" "" "" "" "00315711" "" "" "" "1" "" "03808" "{PMID:Tassabehji 1995:8589691}" "" "" "" "" "" "0" "" "" "" "" "00315712" "" "" "" "1" "" "03808" "{PMID:Pingault 2010:20127975}" "" "" "" "" "" "0" "" "" "" "" "00315713" "" "" "" "1" "" "03808" "{PMID:Read 1997:9279758}" "" "" "" "" "" "0" "" "" "" "" "00315714" "" "" "" "1" "" "03808" "{PMID:Tassabehji 1995:8589691}" "" "" "" "" "" "0" "" "" "" "" "00315715" "" "" "" "1" "" "03808" "{PMID:Pingault 2010:20127975}" "" "M" "" "" "" "0" "" "" "" "" "00315716" "" "" "" "1" "" "03808" "{PMID:Baldwin 1995:8533800}" "" "" "" "" "" "0" "" "" "" "" "00315717" "" "" "" "3" "" "03808" "{PMID:Tassabehji 1995:8589691}" "" "" "" "" "" "0" "" "" "" "" "00315718" "" "" "" "1" "" "03808" "{PMID:Baldwin 1995:8533800}" "" "" "" "" "" "0" "" "" "" "" "00315719" "" "" "" "1" "" "03808" "{PMID:Pingault 2010:20127975}" "" "M" "" "" "" "0" "" "" "" "" "00315720" "" "" "" "1" "" "03808" "{PMID:Pingault 2010:20127975}" "" "" "" "" "" "0" "" "" "" "" "00315721" "" "" "" "1" "" "03808" "" "" "" "" "" "" "0" "" "" "" "" "00315722" "" "" "" "1" "" "03808" "{PMID:Carey 1998:9541113}" "" "" "" "" "" "0" "" "" "" "" "00315723" "" "" "" "1" "" "03808" "{PMID:Da-Silva 1991:1887852}, {PMID:Baldwin 1995:8533800}" "" "" "" "Brazil" "" "0" "" "" "" "" "00315724" "" "" "" "1" "" "03808" "{PMID:Pingault 2010:20127975}" "" "" "" "Guadeloupe" "" "0" "" "" "" "" "00315725" "" "" "" "1" "" "03808" "{PMID:Pingault 2010:20127975}" "" "F" "" "" "" "0" "" "" "" "" "00315726" "" "" "" "1" "" "03808" "{PMID:Pingault 2010:20127975}" "" "" "" "" "" "0" "" "" "" "" "00315727" "" "" "" "1" "" "03808" "{PMID:Pingault 2010:20127975}" "" "" "" "" "" "0" "" "" "" "" "00315728" "" "" "" "1" "" "03808" "Markova 1998 Human Mutation, Mutation and polymorphism report#34 online" "" "" "" "Russia" "" "0" "" "" "" "" "00315729" "" "" "" "1" "" "03808" "{PMID:Eigelshoven 2009:20199465}" "" "F" "" "Colombia" "" "0" "" "" "" "" "00315730" "" "" "" "1" "" "03808" "{PMID:Kohli 2010:21488309}" "" "" "" "" "" "0" "" "" "" "" "00315731" "" "" "" "1" "" "03808" "{PMID:Chen 2010:20478267}" "" "" "" "China" "" "0" "" "" "" "" "00315732" "" "" "" "1" "" "03808" "{PMID:Chen 2010:20478267}" "" "" "" "China" "" "0" "" "" "" "" "00315733" "" "" "" "1" "" "03808" "{PMID:Chen 2010:20478267}" "" "" "" "China" "" "0" "" "" "" "" "00315734" "" "" "" "1" "" "03808" "{PMID:Wang 2010:20664692}" "" "M" "" "China" "" "0" "" "" "" "" "00315735" "" "" "" "1" "" "03808" "{PMID:Wang 2010:20664692}" "" "F" "" "China" "" "0" "" "" "" "" "00315736" "" "" "" "1" "" "03808" "{PMID:Wang 2010:20664692}" "" "F" "" "China" "" "0" "" "" "" "" "00315737" "" "" "" "1" "" "03808" "{PMID:Wang 2010:20664692}" "" "M" "" "China" "" "0" "" "" "" "" "00315738" "" "" "" "1" "" "03808" "{PMID:Wang 2010:20664692}" "" "M" "" "China" "" "0" "" "" "" "" "00315739" "" "" "" "2" "" "03808" "{PMID:Kirkpatrick 1992:1481835}, {PMID:Wu 1993:8449034}, {PMID:Lu-Kuo 1993:8486353}" "" "M" "" "" "" "0" "" "" "" "" "00315740" "" "" "" "1" "" "03808" "{PMID:Pasteris 1993:8103404}" "" "F" "" "" "" "0" "" "" "" "" "00315741" "" "" "" "1" "" "03808" "{PMID:Pasteris 1993:8103404}" "" "" "" "" "" "0" "" "" "" "" "00315742" "" "" "" "1" "" "03808" "{PMID:Tassabehji 1994:7981674}" "" "M" "" "" "" "0" "" "" "" "" "00315743" "" "" "" "1" "" "03808" "{PMID:Milunsky 2007:17627390}" "" "" "" "" "" "0" "" "" "" "" "00315744" "" "" "" "1" "" "03808" "{PMID:Milunsky 2007:17627390}" "" "" "" "" "" "0" "" "" "" "" "00315745" "" "" "" "1" "" "03808" "{PMID:Milunsky 2007:17627390}" "" "" "" "" "" "0" "" "" "" "" "00315746" "" "" "" "1" "" "03808" "{PMID:Milunsky 2007:17627390}" "" "F" "" "" "" "0" "" "" "" "" "00315747" "" "" "" "1" "" "03808" "{PMID:Milunsky 2007:17627390}" "" "" "" "" "" "0" "" "" "" "" "00315749" "" "" "" "1" "" "03808" "{PMID:Matsunaga 2013:23163891}" "" "M" "" "Japan" "" "0" "" "" "" "" "00315750" "" "" "" "1" "" "03808" "{PMID:Matsunaga 2013:23163891}" "" "F" "" "Japan" "" "0" "" "" "" "" "00315751" "" "" "" "1" "" "03808" "{PMID:Hazan 2013:23378733}" "" "F" "" "Turkey" "" "0" "" "" "" "" "00315752" "" "" "" "1" "" "03808" "{PMID:Wildhardt 2013:23512835}" "" "M" "" "" "" "0" "" "" "" "" "00315753" "" "" "" "1" "" "03808" "{PMID:Wildhardt 2013:23512835}" "" "F" "" "" "" "0" "" "" "" "" "00315754" "" "" "" "1" "" "03808" "{PMID:Wildhardt 2013:23512835}" "" "F" "" "" "" "0" "" "" "" "" "00315755" "" "" "" "1" "" "03808" "{PMID:Wildhardt 2013:23512835}" "" "M" "" "" "" "0" "" "" "" "" "00315756" "" "" "" "1" "" "03808" "{PMID:Wildhardt 2013:23512835}" "" "M" "" "" "" "0" "" "" "" "" "00315757" "" "" "" "1" "" "03808" "{PMID:Wildhardt 2013:23512835}" "" "M" "" "" "" "0" "" "" "" "" "00315758" "" "" "" "1" "" "03808" "{PMID:Wildhardt 2013:23512835}" "" "M" "" "" "" "0" "" "" "" "" "00315759" "" "" "" "1" "" "03808" "{PMID:Wildhardt 2013:23512835}" "" "M" "" "" "" "0" "" "" "" "" "00315760" "" "" "" "1" "" "03808" "{PMID:Wildhardt 2013:23512835}" "" "M" "" "" "" "0" "" "" "" "" "00315761" "" "" "" "1" "" "03808" "{PMID:Wildhardt 2013:23512835}" "" "M" "" "" "" "0" "" "" "" "" "00315762" "" "" "" "1" "" "03808" "{PMID:Wildhardt 2013:23512835}" "" "M" "" "" "" "0" "" "" "" "" "00315763" "" "" "" "1" "" "03808" "{PMID:Wildhardt 2013:23512835}" "" "M" "" "" "" "0" "" "" "" "" "00315764" "" "" "" "1" "" "03808" "{PMID:Wildhardt 2013:23512835}" "" "F" "" "" "" "0" "" "" "" "" "00315765" "" "" "" "1" "" "03808" "{PMID:Wildhardt 2013:23512835}" "" "F" "" "" "" "0" "" "" "" "" "00315770" "" "" "00315611" "1" "" "00006" "{PMID:Yang 2013:22320238}" "mother" "F" "" "China" "" "0" "" "" "" "FamPatI1" "00361903" "" "" "" "1" "" "03219" "" "" "" "" "" "" "" "" "" "" "" "00361904" "" "" "" "1" "" "03219" "" "" "" "" "" "" "" "" "" "" "" "00376927" "" "" "" "3" "" "04006" "{PMID:Batissoco 2021:34599368}" "" "M" "no" "Brazil" ">10y" "" "" "" "Brazilian admixed" "ORO166" "00376929" "" "" "00376927" "1" "" "04006" "{PMID:Batissoco 2021:34599368}" "mother of 0000378132" "F" "no" "Brazil" "" "" "" "" "Brazilian admixed" "ORO166M" "00376932" "" "" "00376927" "1" "" "04006" "{PMID:Batissoco 2021:34599368}" "maternal uncle of ORO166" "M" "no" "Brazil" "" "" "" "" "Brazilian admixed" "ORO166T" "00379790" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00380713" "" "" "" "3" "" "04006" "{PMID:Batissoco 2021:34599368}" "" "F" "" "Brazil" "" "" "" "" "" "w8" "00380714" "" "" "00380713" "1" "" "04006" "{PMID:Batissoco 2021:34599368}" "" "F" "" "Brazil" "" "" "" "" "" "" "00380715" "" "" "00380713" "2" "" "04006" "{PMID:Batissoco 2021:34599368}" "" "F" "" "Brazil" "" "" "" "" "" "" "00381530" "" "" "" "2" "" "04006" "{PMID:Batissoco 2021:34599368}" "" "M" "no" "Brazil" "" "" "" "" "" "" "00381531" "" "" "00381530" "1" "" "04006" "{PMID:Batissoco 2021:34599368}" "" "F" "no" "Brazil" "" "" "" "" "" "" "00408236" "" "" "" "2" "" "04294" "{PMID:Li 2019:30936914}" "2 generation family, affected father/son" "M" "yes" "China" "" "0" "" "" "Chinese" "Fam14Pat54/53" "00415813" "" "" "" "2" "" "04294" "" "" "M" "yes" "China" "" "" "" "" "Chinese" "F-3" "00415814" "" "" "" "1" "" "04294" "" "" "M" "?" "China" "" "" "" "" "Chinese" "S-4" "00419568" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "9042" "00441480" "" "" "" "7" "" "00006" "{PMID:Chen 2021:34956325}" "2-generation family, 7 affected (F, 6M)" "F;M" "" "China" "" "0" "" "" "" "FamD" "00441528" "" "" "" "1" "" "00006" "{PMID:Boucher 2020:33229591}" "" "" "" "France" "" "0" "" "" "" "5413" "00447211" "" "" "" "3" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 3 affected" "F" "" "Germany" "" "0" "" "" "" "MISC-313" "00453427" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00465476" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465477" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00466057" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 215 "{{individualid}}" "{{diseaseid}}" "00050588" "00198" "00100622" "01604" "00269431" "01604" "00282193" "05667" "00282195" "05667" "00282196" "05667" "00282201" "05667" "00282202" "05667" "00282207" "05667" "00282208" "05667" "00282209" "05667" "00282212" "05667" "00282213" "05667" "00282217" "05667" "00282218" "05667" "00282220" "05667" "00282221" "05667" "00282223" "05667" "00282224" "05667" "00282225" "05667" "00282226" "05667" "00282230" "05667" "00282233" "05667" "00282235" "05667" "00282237" "05667" "00282239" "05667" "00282242" "05667" "00282245" "05667" "00282246" "05667" "00282247" "05667" "00282248" "05667" "00282255" "05667" "00282256" "05667" "00282260" "05667" "00282264" "05667" "00282265" "05667" "00282267" "05667" "00282268" "05667" "00282276" "05667" "00282278" "05667" "00282282" "05667" "00282283" "05667" "00282284" "05667" "00282288" "05667" "00282289" "05103" "00282290" "05667" "00282291" "05667" "00282297" "05667" "00292615" "00198" "00304791" "00198" "00315611" "05667" "00315624" "05667" "00315625" "05667" "00315626" "05667" "00315627" "05667" "00315628" "05667" "00315629" "05667" "00315630" "01271" "00315631" "05667" "00315632" "05667" "00315633" "05667" "00315634" "05667" "00315635" "05667" "00315636" "05667" "00315637" "05667" "00315638" "05667" "00315639" "05667" "00315640" "05667" "00315641" "05667" "00315642" "05667" "00315643" "05667" "00315644" "05667" "00315645" "05667" "00315646" "05667" "00315647" "05667" "00315648" "05667" "00315649" "05667" "00315650" "05667" "00315651" "05667" "00315652" "05667" "00315653" "05667" "00315654" "05667" "00315655" "05667" "00315656" "05667" "00315657" "05667" "00315658" "05667" "00315659" "05667" "00315660" "05667" "00315661" "05667" "00315662" "05667" "00315663" "05667" "00315664" "05667" "00315665" "05667" "00315666" "05667" "00315667" "05667" "00315668" "05667" "00315669" "05667" "00315670" "05667" "00315671" "05667" "00315672" "05667" "00315673" "05667" "00315674" "05667" "00315675" "05667" "00315676" "05667" "00315677" "05667" "00315678" "05667" "00315679" "05667" "00315680" "05667" "00315681" "05667" "00315682" "05667" "00315683" "05667" "00315684" "05667" "00315685" "05667" "00315686" "05667" "00315687" "05667" "00315688" "05667" "00315689" "05667" "00315690" "05667" "00315691" "05667" "00315692" "05667" "00315693" "05667" "00315694" "05667" "00315696" "05667" "00315697" "05667" "00315698" "05667" "00315699" "05667" "00315700" "05667" "00315701" "05667" "00315702" "05667" "00315703" "05667" "00315704" "05667" "00315705" "05667" "00315706" "05667" "00315707" "05667" "00315708" "05667" "00315709" "05667" "00315710" "05667" "00315711" "05667" "00315712" "05667" "00315713" "05667" "00315714" "05667" "00315715" "05667" "00315716" "05667" "00315717" "00000" "00315718" "05667" "00315719" "05667" "00315720" "05667" "00315721" "00000" "00315722" "05667" "00315723" "05667" "00315724" "05667" "00315725" "05667" "00315726" "05667" "00315727" "05667" "00315728" "05667" "00315729" "05667" "00315730" "05667" "00315731" "05667" "00315732" "05667" "00315733" "05667" "00315734" "05667" "00315735" "05667" "00315736" "05667" "00315737" "05667" "00315738" "05667" "00315739" "05667" "00315740" "05667" "00315741" "00198" "00315742" "05667" "00315743" "05667" "00315744" "05667" "00315745" "05667" "00315746" "05667" "00315747" "05667" "00315749" "05667" "00315750" "05667" "00315751" "05667" "00315752" "05667" "00315753" "05667" "00315754" "05667" "00315755" "05667" "00315756" "05667" "00315757" "05667" "00315758" "05667" "00315759" "05667" "00315760" "05667" "00315761" "05667" "00315762" "05667" "00315763" "05667" "00315764" "05667" "00315765" "05667" "00315770" "05667" "00361903" "00982" "00361903" "01604" "00361904" "05667" "00376927" "01604" "00376929" "01604" "00376932" "01604" "00379790" "00198" "00380713" "01604" "00380714" "01604" "00380715" "01604" "00381530" "01604" "00381531" "01604" "00408236" "01604" "00415813" "01604" "00415814" "01604" "00419568" "00198" "00441480" "05086" "00441528" "05086" "00447211" "00198" "00453427" "00198" "00465476" "05086" "00465477" "05086" "00466057" "05667" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00982, 01271, 01408, 01604, 02059, 05086, 05103, 05667 ## Count = 206 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000037200" "00198" "00050588" "00006" "Unknown" "" "craniosynostosis, global developmental delay, abnormality of the palpebral fissures, abnormality of the palmar creases" "" "" "" "" "" "" "" "" "" "" "" "0000078850" "01604" "00100622" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000218397" "05103" "00282289" "00008" "Unknown" "" "hand syndrome" "" "" "" "" "" "" "" "" "" "deafness, craniofacial" "" "0000219247" "05667" "00282193" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Waardenburg syndrome" "" "0000219249" "05667" "00282195" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Waardenburg syndrome" "" "0000219250" "05667" "00282196" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 1" "Waardenburg syndrome" "" "0000219255" "05667" "00282201" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Waardenburg syndrome" "" "0000219256" "05667" "00282202" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 1" "Waardenburg syndrome" "" "0000219261" "05667" "00282207" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Waardenburg syndrome" "" "0000219262" "05667" "00282208" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Waardenburg syndrome" "" "0000219263" "05667" "00282209" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Waardenburg syndrome" "" "0000219266" "05667" "00282212" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Waardenburg syndrome" "" "0000219267" "05667" "00282213" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 1" "Waardenburg syndrome" "" "0000219271" "05667" "00282217" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Waardenburg syndrome" "" "0000219272" "05667" "00282218" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Waardenburg syndrome" "" "0000219274" "05667" "00282220" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 1" "Waardenburg syndrome" "" "0000219275" "05667" "00282221" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 1" "Waardenburg syndrome" "" "0000219277" "05667" "00282223" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Waardenburg syndrome" "" "0000219278" "05667" "00282224" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Waardenburg syndrome" "" "0000219279" "05667" "00282225" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Waardenburg syndrome" "" "0000219280" "05667" "00282226" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Waardenburg syndrome" "" "0000219284" "05667" "00282230" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Waardenburg syndrome" "" "0000219287" "05667" "00282233" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Waardenburg syndrome" "" "0000219289" "05667" "00282235" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Waardenburg syndrome" "" "0000219291" "05667" "00282237" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Waardenburg syndrome" "" "0000219293" "05667" "00282239" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Waardenburg syndrome" "" "0000219296" "05667" "00282242" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 1" "Waardenburg syndrome" "" "0000219299" "05667" "00282245" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 1" "Waardenburg syndrome" "" "0000219300" "05667" "00282246" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Waardenburg syndrome" "" "0000219301" "05667" "00282247" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Waardenburg syndrome" "" "0000219302" "05667" "00282248" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Waardenburg syndrome" "" "0000219309" "05667" "00282255" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Waardenburg syndrome" "" "0000219310" "05667" "00282256" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 3" "Waardenburg syndrome" "" "0000219314" "05667" "00282260" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Waardenburg syndrome" "" "0000219318" "05667" "00282264" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Waardenburg syndrome" "" "0000219319" "05667" "00282265" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Waardenburg syndrome" "" "0000219321" "05667" "00282267" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 1" "Waardenburg syndrome" "" "0000219322" "05667" "00282268" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 1" "Waardenburg syndrome" "" "0000219330" "05667" "00282276" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Waardenburg syndrome" "" "0000219332" "05667" "00282278" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Waardenburg syndrome" "" "0000219336" "05667" "00282282" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Waardenburg syndrome" "" "0000219337" "05667" "00282283" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 1" "Waardenburg syndrome" "" "0000219338" "05667" "00282284" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Waardenburg syndrome" "" "0000219342" "05667" "00282288" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 1" "Waardenburg syndrome" "" "0000219343" "05667" "00282290" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Waardenburg syndrome" "" "0000219344" "05667" "00282291" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Waardenburg syndrome" "" "0000219350" "05667" "00282297" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 1" "Waardenburg syndrome" "" "0000239357" "05667" "00315611" "03808" "Familial, autosomal recessive" "" "More extended depigmentation than his parents with a single mutation" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239370" "05667" "00315624" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239371" "05667" "00315625" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239372" "05667" "00315626" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239373" "05667" "00315627" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239374" "05667" "00315628" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239375" "05667" "00315629" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS3" "Waardenburg syndrome" "" "0000239376" "01271" "00315630" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDHS" "craniofacial deafness hand syndrome" "" "0000239377" "05667" "00315631" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239378" "05667" "00315632" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239379" "05667" "00315633" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239380" "05667" "00315634" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239381" "05667" "00315635" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239382" "05667" "00315636" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239383" "05667" "00315637" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239384" "05667" "00315638" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239385" "05667" "00315639" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239386" "05667" "00315640" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239387" "05667" "00315641" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239388" "05667" "00315642" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239389" "05667" "00315643" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239390" "05667" "00315644" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239391" "05667" "00315645" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239392" "05667" "00315646" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239393" "05667" "00315647" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239394" "05667" "00315648" "03808" "Unknown" "" "Initialy reported as WS2" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome type 2" "" "0000239395" "05667" "00315649" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239396" "05667" "00315650" "03808" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "WS3" "Waardenburg syndrome" "" "0000239397" "05667" "00315651" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239398" "05667" "00315652" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239399" "05667" "00315653" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239400" "05667" "00315654" "03808" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "WS3" "Waardenburg syndrome" "" "0000239401" "05667" "00315655" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239402" "05667" "00315656" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239403" "05667" "00315657" "03808" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "WS3" "Waardenburg syndrome" "" "0000239404" "05667" "00315658" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239405" "05667" "00315659" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239406" "05667" "00315660" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239407" "05667" "00315661" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Waardenburg syndrome" "" "0000239408" "05667" "00315662" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS3" "Waardenburg syndrome" "" "0000239409" "05667" "00315663" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS3" "Waardenburg syndrome" "" "0000239410" "05667" "00315664" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239411" "05667" "00315665" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239412" "05667" "00315666" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Waardenburg syndrome" "" "0000239413" "05667" "00315667" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239414" "05667" "00315668" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239415" "05667" "00315669" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239416" "05667" "00315670" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239417" "05667" "00315671" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239418" "05667" "00315672" "03808" "Unknown" "" "spina bifida in 2 patients" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239419" "05667" "00315673" "03808" "Unknown" "" "spina bifida in 2 patients" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239420" "05667" "00315674" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239421" "05667" "00315675" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239422" "05667" "00315676" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239423" "05667" "00315677" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239424" "05667" "00315678" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239425" "05667" "00315679" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239426" "05667" "00315680" "03808" "Isolated (sporadic)" "" "Some relatives show cutaneous depigmentations and/or early greying without dystopia canthorum and deafness; they do not carry the mutation" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239427" "05667" "00315681" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239428" "05667" "00315682" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239429" "05667" "00315683" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239430" "05667" "00315684" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239431" "05667" "00315685" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239432" "05667" "00315686" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239433" "05667" "00315687" "03808" "Unknown" "" "unilateral macular degeneration" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239434" "05667" "00315688" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239435" "05667" "00315689" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239436" "05667" "00315690" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239437" "05667" "00315691" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239438" "05667" "00315692" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239439" "05667" "00315693" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239440" "05667" "00315694" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239442" "05667" "00315696" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239443" "05667" "00315697" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239444" "05667" "00315698" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239445" "05667" "00315699" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239446" "05667" "00315700" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239447" "05667" "00315701" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239448" "05667" "00315702" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239449" "05667" "00315703" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239450" "05667" "00315704" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239451" "05667" "00315705" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239452" "05667" "00315706" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239453" "05667" "00315707" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239454" "05667" "00315708" "03808" "Unknown" "" "spina bifida in one patient" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239455" "05667" "00315709" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239456" "05667" "00315710" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Waardenburg syndrome" "" "0000239457" "05667" "00315711" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239458" "05667" "00315712" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239459" "05667" "00315713" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239460" "05667" "00315714" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Waardenburg syndrome" "" "0000239461" "05667" "00315715" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239462" "05667" "00315716" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239463" "00000" "00315717" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000239464" "05667" "00315718" "03808" "Unknown" "" "spina bifida in 1 patient" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239465" "05667" "00315719" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239466" "05667" "00315720" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239467" "00000" "00315721" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000239468" "05667" "00315722" "03808" "Unknown" "" "septo-optic dysplasia in the propositus" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239469" "05667" "00315723" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239470" "05667" "00315724" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239471" "05667" "00315725" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239472" "05667" "00315726" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239473" "05667" "00315727" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239474" "05667" "00315728" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239475" "05667" "00315729" "03808" "Isolated (sporadic)" "" "dental abnormality" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239476" "05667" "00315730" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Waardenburg syndrome" "" "0000239477" "05667" "00315731" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239478" "05667" "00315732" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239479" "05667" "00315733" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239480" "05667" "00315734" "03808" "Isolated (sporadic)" "" "hearing not assessed" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239481" "05667" "00315735" "03808" "Isolated (sporadic)" "" "hearing not assessed" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239482" "05667" "00315736" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Waardenburg syndrome, no deafness" "" "0000239483" "05667" "00315737" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Waardenburg syndrome, no deafness" "" "0000239484" "05667" "00315738" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Waardenburg syndrome, no deafness" "" "0000239485" "05667" "00315739" "03808" "Isolated (sporadic)" "" "short stature, mild gross motor delays" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239486" "05667" "00315740" "03808" "Isolated (sporadic)" "" "IUGR, microcephaly, coloboma, microphthalmia" "" "" "" "" "" "" "" "" "WS3" "Waardenburg syndrome" "" "0000239487" "00198" "00315741" "03808" "Unknown" "" "cleft palate and lip pits" "" "" "" "" "" "" "" "" "" "Multiple congenital anomalies without WS features (?)" "" "0000239488" "05667" "00315742" "03808" "Isolated (sporadic)" "" "developmental delay and additional defects" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239489" "05667" "00315743" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239490" "05667" "00315744" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239491" "05667" "00315745" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS3" "Waardenburg syndrome" "" "0000239492" "05667" "00315746" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239493" "05667" "00315747" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239495" "05667" "00315749" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239496" "05667" "00315750" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239497" "05667" "00315751" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239498" "05667" "00315752" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239499" "05667" "00315753" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239500" "05667" "00315754" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239501" "05667" "00315755" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239502" "05667" "00315756" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239503" "05667" "00315757" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239504" "05667" "00315758" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239505" "05667" "00315759" "03808" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239506" "05667" "00315760" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239507" "05667" "00315761" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239508" "05667" "00315762" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239509" "05667" "00315763" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239510" "05667" "00315764" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239511" "05667" "00315765" "03808" "Unknown" "" "" "" "" "" "" "" "" "" "" "WS1" "Waardenburg syndrome" "" "0000239516" "05667" "00315770" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000257299" "01604" "00361903" "03219" "Familial, autosomal dominant" "" "Heterochromia iris, telecanthus, white forelock, bilateral profound to severe hearing loss and hypopigmented patches of skin on the forehead, chest and upper limbs. Father (II-2) and paternal grandmother (I-2) had heterochromis irides. Mother (II-3) had white forelock" "" "" "" "" "" "" "" "" "" "" "" "0000257300" "05667" "00361904" "03219" "Familial, autosomal recessive" "" "Telecanthus, heterochromia iridis, white forelock and bilateral hand contractures, hearing loss in both parents, paternal uncle and paternal grandmother" "" "" "" "" "" "" "" "" "" "" "" "0000272128" "01604" "00376927" "04006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000272131" "01604" "00376929" "04006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000272133" "01604" "00376932" "04006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000273645" "00198" "00379790" "01807" "Unknown" "" "Rod-cone dystrophy (HP:0000510); Cone/cone-rod dystrophy (HP:0000548); Hearing impairment (HP:0000365)" "" "" "" "" "" "" "" "" "" "" "" "0000274566" "01604" "00380713" "04006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000274567" "01604" "00380714" "04006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000274568" "01604" "00380715" "04006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000275380" "01604" "00381530" "04006" "Familial, autosomal dominant" "" "normal hearing, Partial heterochromia irides\r\nand white hair forelock, Telecanthus, high palate, cupid arc mouth, nasal wings\r\nhypoplasia, nasal root\r\nhyperplasia, and synophris" "" "" "" "" "" "" "" "" "" "" "" "0000275381" "01604" "00381531" "04006" "Familial, autosomal dominant" "" "normal hearing, iris heterocromia, telecanthus, white hair forelock, synophris" "" "" "" "" "" "" "" "" "" "" "" "0000310849" "00198" "00419568" "02300" "Isolated (sporadic)" "89y" "" "" "" "" "" "" "" "" "" "" "ocular/auditory abnormality" "" "0000330966" "05086" "00441528" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "simplex/sporadic age-related hearing loss" "" "0000336410" "00198" "00447211" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "eye diseaes" "" "0000342090" "00198" "00453427" "03544" "Isolated (sporadic)" "" "HP:0000316, HP:0000348, HP:0000364, HP:0000365, HP:0000431, HP:0004322, HP:0045025" "" "" "" "" "" "" "" "" "WS1" "multiple congenital abnormalities" "" "0000351024" "05086" "00465476" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Waardenburg syndrome" "" "0000351025" "05086" "00465477" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Waardenburg syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 214 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050533" "00050588" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000101038" "00100622" "1" "01741" "01741" "2017-03-06 16:55:08" "" "" "SEQ" "DNA" "" "" "0000270574" "00269431" "1" "01741" "01741" "2019-11-26 13:41:36" "" "" "SEQ" "DNA" "" "" "0000283343" "00282193" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283345" "00282195" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283346" "00282196" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283351" "00282201" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283352" "00282202" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283357" "00282207" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283358" "00282208" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283359" "00282209" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283362" "00282212" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283363" "00282213" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283367" "00282217" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283368" "00282218" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283370" "00282220" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283371" "00282221" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283373" "00282223" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283374" "00282224" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283375" "00282225" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283376" "00282226" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283380" "00282230" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283383" "00282233" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283385" "00282235" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283387" "00282237" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283389" "00282239" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283392" "00282242" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283395" "00282245" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283396" "00282246" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283397" "00282247" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283398" "00282248" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283405" "00282255" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283406" "00282256" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283410" "00282260" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283414" "00282264" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283415" "00282265" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283417" "00282267" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283418" "00282268" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283426" "00282276" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283428" "00282278" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283432" "00282282" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283433" "00282283" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283434" "00282284" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283438" "00282288" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283439" "00282289" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283440" "00282290" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283441" "00282291" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000283447" "00282297" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000293783" "00292615" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305920" "00304791" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000316791" "00315611" "1" "03808" "03808" "2013-12-31 09:01:53" "" "" "SEQ" "DNA" "" "" "0000316804" "00315624" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 13:49:04" "SSCA;SEQ" "DNA" "" "" "0000316805" "00315625" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 13:49:41" "SEQ" "DNA" "" "" "0000316806" "00315626" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 13:50:15" "SSCA;SEQ" "DNA" "" "" "0000316807" "00315627" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 13:50:47" "SEQ" "DNA" "" "" "0000316808" "00315628" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 13:51:42" "SSCA;HD;SEQ" "DNA" "" "" "0000316809" "00315629" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 13:52:15" "SEQ" "DNA" "" "" "0000316810" "00315630" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 13:52:57" "SSCA;SEQ" "DNA" "" "" "0000316811" "00315631" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 13:53:22" "SSCA;SEQ" "DNA" "" "" "0000316812" "00315632" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 13:53:48" "SSCA;SEQ" "DNA" "" "" "0000316813" "00315633" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 13:54:58" "SSCA;SEQ" "DNA" "" "" "0000316814" "00315634" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 13:57:13" "SEQ" "DNA" "" "" "0000316815" "00315635" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 13:56:06" "SEQ" "DNA" "" "" "0000316816" "00315636" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 13:57:44" "SSCA;SEQ" "DNA" "" "" "0000316817" "00315637" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 13:58:26" "SSCA;SEQ" "DNA" "" "" "0000316818" "00315638" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:01:33" "CSGE;SEQ" "DNA" "" "" "0000316819" "00315639" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:03:19" "SSCA;SEQ" "DNA" "" "" "0000316820" "00315640" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:04:31" "SSCA;SEQ" "DNA" "" "" "0000316821" "00315641" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:03:39" "HD;SEQ" "DNA" "" "" "0000316822" "00315642" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:05:21" "SSCA;HD;SEQ" "DNA" "" "" "0000316823" "00315643" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:06:26" "SEQ" "DNA" "" "" "0000316824" "00315644" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:05:52" "SSCA;SEQ" "DNA" "" "" "0000316825" "00315645" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:07:10" "SSCA;SEQ" "DNA" "" "" "0000316826" "00315646" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:07:43" "SSCA;HD;SEQ" "DNA" "" "" "0000316827" "00315647" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:08:50" "SEQ" "DNA" "" "" "0000316828" "00315648" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:08:11" "HD;SEQ" "DNA" "" "" "0000316829" "00315649" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:09:32" "SSCA;SEQ" "DNA" "" "" "0000316830" "00315650" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:10:15" "SSCA;SEQ" "DNA" "" "" "0000316831" "00315651" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:10:38" "CSGE;SEQ" "DNA" "" "" "0000316832" "00315652" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:11:44" "HD;Southern;SEQ" "DNA" "" "" "0000316833" "00315653" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:12:16" "SSCA;SEQ" "DNA" "" "" "0000316834" "00315654" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:12:47" "SSCA;SEQ" "DNA" "" "" "0000316835" "00315655" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:13:10" "HD;SEQ" "DNA" "" "" "0000316836" "00315656" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:13:41" "SEQ" "DNA" "" "" "0000316837" "00315657" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:14:10" "?" "DNA" "" "" "0000316838" "00315658" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:16:05" "SSCA;HD;SEQ" "DNA" "" "" "0000316839" "00315659" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:16:27" "SEQ" "DNA" "" "" "0000316840" "00315660" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:16:51" "SSCA;HD;SEQ" "DNA" "" "" "0000316841" "00315661" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:19:50" "SSCA;HD;SEQ" "DNA" "" "" "0000316842" "00315662" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:17:39" "SSCA;SEQ" "DNA" "" "" "0000316843" "00315663" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:18:03" "?" "DNA" "" "" "0000316844" "00315664" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:18:25" "SEQ" "DNA" "" "" "0000316845" "00315665" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:19:11" "SSCA;HD;SEQ" "DNA" "" "" "0000316846" "00315666" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:18:47" "SSCA;SEQ" "DNA" "" "" "0000316847" "00315667" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:20:15" "SSCA;HD;SEQ" "DNA" "" "" "0000316848" "00315668" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:20:50" "HD;SEQ" "DNA" "" "" "0000316849" "00315669" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:17:11" "?" "DNA" "" "" "0000316850" "00315670" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:21:31" "SSCA;HD;SEQ" "DNA" "" "" "0000316851" "00315671" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:22:02" "SSCA;SEQ" "DNA" "" "" "0000316852" "00315672" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:22:27" "CSGE;SEQ" "DNA" "" "" "0000316853" "00315673" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:24:56" "SSCA;SEQ" "DNA" "" "" "0000316854" "00315674" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:25:25" "CSGE;SEQ" "DNA" "" "" "0000316855" "00315675" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:25:46" "SEQ" "DNA" "" "" "0000316856" "00315676" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:26:08" "SSCA;SEQ" "DNA" "" "" "0000316857" "00315677" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:26:30" "SSCA;SEQ" "DNA" "" "" "0000316858" "00315678" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:26:51" "SEQ" "DNA" "" "" "0000316859" "00315679" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:27:19" "SSCA;SEQ" "DNA" "" "" "0000316860" "00315680" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:28:03" "SEQ" "DNA" "" "" "0000316861" "00315681" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:28:32" "SEQ" "DNA" "" "" "0000316862" "00315682" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:29:19" "?" "DNA" "" "" "0000316863" "00315683" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:29:44" "SEQ" "DNA" "" "" "0000316864" "00315684" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:30:18" "CSGE;SEQ" "DNA" "" "" "0000316865" "00315685" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:30:39" "SEQ" "DNA" "" "" "0000316866" "00315686" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:31:01" "CSGE;SEQ" "DNA" "" "" "0000316867" "00315687" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:31:28" "?" "DNA" "" "" "0000316868" "00315688" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:31:49" "SSCA;HD;SEQ" "DNA" "" "" "0000316869" "00315689" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:32:13" "SSCA;HD;SEQ" "DNA" "" "" "0000316870" "00315690" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:32:36" "SSCA;SEQ" "DNA" "" "" "0000316871" "00315691" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:32:57" "SEQ" "DNA" "" "" "0000316872" "00315692" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:33:19" "?" "DNA" "" "" "0000316873" "00315693" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:33:50" "SSCA;HD;SEQ" "DNA" "" "" "0000316874" "00315694" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:34:12" "SEQ" "DNA" "" "" "0000316876" "00315696" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:35:03" "SSCA;HD;SEQ" "DNA" "" "" "0000316877" "00315697" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:35:29" "SSCA;SEQ" "DNA" "" "" "0000316878" "00315698" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:35:50" "?" "DNA" "" "" "0000316879" "00315699" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:36:27" "SEQ" "DNA" "" "" "0000316880" "00315700" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:36:07" "SSCA;HD;SEQ" "DNA" "" "" "0000316881" "00315701" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:37:02" "SEQ" "DNA" "" "" "0000316882" "00315702" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:37:23" "SSCA;SEQ" "DNA" "" "" "0000316883" "00315703" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:37:57" "SEQ" "DNA" "" "" "0000316884" "00315704" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:38:13" "SSCA;HD;SEQ" "DNA" "" "" "0000316885" "00315705" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:38:31" "SSCA;SEQ" "DNA" "" "" "0000316886" "00315706" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:39:03" "SSCA;HD;SEQ" "DNA" "" "" "0000316887" "00315707" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:39:28" "SSCA;SEQ" "DNA" "" "" "0000316888" "00315708" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:39:56" "SSCA;SEQ" "DNA" "" "" "0000316889" "00315709" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:42:06" "CSGE;SEQ" "DNA" "" "" "0000316890" "00315710" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:42:27" "SSCA;HD;SEQ" "DNA" "" "" "0000316891" "00315711" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:42:46" "SSCA;HD;SEQ" "DNA" "" "" "0000316892" "00315712" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:41:48" "SEQ" "DNA" "" "" "0000316893" "00315713" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:43:04" "?" "DNA" "" "" "0000316894" "00315714" "1" "03808" "03808" "2009-10-05 13:39:46" "" "" "SSCA;HD;SEQ" "DNA" "" "" "0000316895" "00315715" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:43:35" "SEQ" "DNA" "" "" "0000316896" "00315716" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:44:32" "CSGE;SEQ" "DNA" "" "" "0000316897" "00315717" "1" "03808" "03808" "2009-10-05 13:39:46" "" "" "SSCA;HD;SEQ" "DNA" "" "" "0000316898" "00315718" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:45:00" "CSGE;SEQ" "DNA" "" "" "0000316899" "00315719" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:45:21" "SEQ" "DNA" "" "" "0000316900" "00315720" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:46:33" "SEQ" "DNA" "" "" "0000316901" "00315721" "1" "03808" "03808" "2009-10-05 13:39:46" "" "" "?" "DNA" "" "" "0000316902" "00315722" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:47:00" "SSCA;SEQ" "DNA" "" "" "0000316903" "00315723" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:47:21" "CSGE;SEQ" "DNA" "" "" "0000316904" "00315724" "1" "03808" "03808" "2009-10-05 13:39:46" "03808" "2010-02-04 14:47:41" "SEQ" "DNA" "" "" "0000316905" "00315725" "1" "03808" "03808" "2009-11-19 12:15:59" "03808" "2010-02-04 14:11:20" "SEQ" "DNA" "" "" "0000316906" "00315726" "1" "03808" "03808" "2009-11-19 12:15:59" "03808" "2010-02-04 14:28:58" "SEQ" "DNA" "" "" "0000316907" "00315727" "1" "03808" "03808" "2009-11-19 12:15:59" "03808" "2010-02-04 14:41:31" "SEQ" "DNA" "" "" "0000316908" "00315728" "1" "03808" "03808" "2011-11-18 13:57:58" "" "" "SSCA;SEQ" "DNA" "" "" "0000316909" "00315729" "1" "03808" "03808" "2011-11-18 13:57:58" "" "" "SEQ" "DNA" "" "" "0000316910" "00315730" "1" "03808" "03808" "2011-11-18 13:57:58" "" "" "?" "DNA" "" "" "0000316911" "00315731" "1" "03808" "03808" "2011-11-18 13:57:58" "" "" "SEQ" "DNA" "" "" "0000316912" "00315732" "1" "03808" "03808" "2011-11-18 13:57:58" "" "" "SEQ" "DNA" "" "" "0000316913" "00315733" "1" "03808" "03808" "2011-11-18 13:57:58" "" "" "SEQ" "DNA" "" "" "0000316914" "00315734" "1" "03808" "03808" "2011-11-18 13:57:58" "" "" "SEQ" "DNA" "" "" "0000316915" "00315735" "1" "03808" "03808" "2011-11-18 13:57:58" "" "" "SEQ" "DNA" "" "" "0000316916" "00315736" "1" "03808" "03808" "2011-11-18 13:57:58" "" "" "SEQ" "DNA" "" "" "0000316917" "00315737" "1" "03808" "03808" "2011-11-18 13:57:58" "" "" "SEQ" "DNA" "" "" "0000316918" "00315738" "1" "03808" "03808" "2011-11-18 13:57:58" "" "" "SEQ" "DNA" "" "" "0000316919" "00315739" "1" "03808" "03808" "2013-12-23 11:18:49" "" "" "FISH" "DNA" "lymphocytes, cell line" "" "0000316920" "00315740" "1" "03808" "03808" "2013-12-23 11:18:49" "" "" "FISH;Southern" "DNA" "Cell line" "" "0000316921" "00315741" "1" "03808" "03808" "2013-12-23 11:18:49" "" "" "FISH;Southern" "DNA" "Cell line" "" "0000316922" "00315742" "1" "03808" "03808" "2013-12-23 11:18:49" "03808" "2013-12-30 11:19:15" "Southern" "DNA" "Flow-sorted chromosome" "" "0000316923" "00315743" "1" "03808" "03808" "2013-12-23 11:18:49" "" "" "MLPA" "DNA" "" "" "0000316924" "00315744" "1" "03808" "03808" "2013-12-23 11:18:49" "" "" "MLPA" "DNA" "" "" "0000316925" "00315745" "1" "03808" "03808" "2013-12-23 11:18:49" "" "" "MLPA" "DNA" "" "" "0000316926" "00315746" "1" "03808" "03808" "2013-12-23 11:18:49" "" "" "MLPA" "DNA" "" "" "0000316927" "00315747" "1" "03808" "03808" "2013-12-23 11:18:49" "" "" "MLPA" "DNA" "" "" "0000316929" "00315749" "1" "03808" "03808" "2013-12-27 09:56:51" "" "" "SEQ" "DNA" "" "" "0000316930" "00315750" "1" "03808" "03808" "2013-12-27 09:56:51" "" "" "MLPA;PCRq" "DNA" "" "" "0000316931" "00315751" "1" "03808" "03808" "2013-12-27 09:56:51" "" "" "SEQ" "DNA" "" "" "0000316932" "00315752" "1" "03808" "03808" "2013-12-27 09:56:51" "" "" "SEQ" "DNA" "" "" "0000316933" "00315753" "1" "03808" "03808" "2013-12-27 09:56:51" "" "" "SEQ" "DNA" "" "" "0000316934" "00315754" "1" "03808" "03808" "2013-12-27 09:56:51" "" "" "SEQ" "DNA" "" "" "0000316935" "00315755" "1" "03808" "03808" "2013-12-27 09:56:51" "" "" "SEQ" "DNA" "" "" "0000316936" "00315756" "1" "03808" "03808" "2013-12-27 09:56:51" "" "" "SEQ" "DNA" "" "" "0000316937" "00315757" "1" "03808" "03808" "2013-12-27 09:56:51" "" "" "SEQ" "DNA" "" "" "0000316938" "00315758" "1" "03808" "03808" "2013-12-27 09:56:51" "" "" "SEQ" "DNA" "" "" "0000316939" "00315759" "1" "03808" "03808" "2013-12-27 09:56:51" "" "" "SEQ" "DNA" "" "" "0000316940" "00315760" "1" "03808" "03808" "2013-12-27 09:56:51" "" "" "SEQ" "DNA" "" "" "0000316941" "00315761" "1" "03808" "03808" "2013-12-27 09:56:51" "" "" "SEQ" "DNA" "" "" "0000316942" "00315762" "1" "03808" "03808" "2013-12-27 09:56:51" "" "" "MLPA" "DNA" "" "" "0000316943" "00315763" "1" "03808" "03808" "2013-12-27 09:56:51" "" "" "MLPA" "DNA" "" "" "0000316944" "00315764" "1" "03808" "03808" "2013-12-27 09:56:51" "" "" "MLPA" "DNA" "" "" "0000316945" "00315765" "1" "03808" "03808" "2013-12-27 09:56:51" "" "" "MLPA" "DNA" "" "" "0000316950" "00315770" "1" "00006" "00006" "2020-10-28 16:53:25" "" "" "SEQ" "DNA" "" "" "0000363131" "00361903" "1" "03219" "03219" "2021-04-12 06:45:15" "" "" "SEQ-NG" "DNA" "" "" "0000363132" "00361904" "1" "03219" "03219" "2021-04-12 06:53:23" "" "" "SEQ-NG" "DNA" "" "" "0000378132" "00376927" "1" "04006" "04006" "2021-06-26 15:49:44" "" "" "SEQ" "DNA" "Blood" "" "0000378135" "00376929" "1" "04006" "04006" "2021-06-26 16:05:40" "" "" "SEQ" "DNA" "Blood" "" "0000378137" "00376932" "1" "04006" "04006" "2021-06-26 16:11:17" "" "" "SEQ" "DNA" "Blood" "" "0000380993" "00379790" "1" "01807" "01807" "2021-08-09 13:55:02" "" "" "SEQ" "DNA" "" "" "0000381926" "00380713" "1" "04006" "04006" "2021-08-19 21:07:59" "" "" "SEQ" "DNA" "" "" "0000381927" "00380714" "1" "04006" "04006" "2021-08-19 22:41:34" "" "" "SEQ" "DNA" "" "" "0000381928" "00380715" "1" "04006" "04006" "2021-08-19 22:44:59" "04006" "2021-08-19 22:53:12" "SEQ" "DNA" "" "" "0000382745" "00381530" "1" "04006" "04006" "2021-08-30 16:22:29" "" "" "SEQ" "DNA" "" "" "0000382746" "00381531" "1" "04006" "04006" "2021-08-30 16:26:57" "" "" "SEQ" "DNA" "" "" "0000409491" "00408236" "1" "04294" "04294" "2022-04-18 04:13:46" "" "" "SEQ-NG" "DNA" "" "" "0000417094" "00415813" "1" "04294" "04294" "2022-08-17 02:54:09" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000417095" "00415814" "1" "04294" "04294" "2022-08-17 02:58:18" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000420872" "00419568" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical exome sequencing" "0000442966" "00441480" "1" "00006" "00006" "2023-11-07 23:23:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443014" "00441528" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448788" "00447211" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000455038" "00453427" "1" "03544" "03544" "2024-08-26 08:14:45" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000467125" "00465476" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467126" "00465477" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467711" "00466057" "1" "01741" "01741" "2025-07-16 09:20:02" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 203 "{{screeningid}}" "{{geneid}}" "0000050533" "PAX3" "0000050533" "SRPX2" "0000101038" "PAX3" "0000270574" "PAX3" "0000283343" "PAX3" "0000283345" "PAX3" "0000283346" "PAX3" "0000283351" "PAX3" "0000283352" "PAX3" "0000283357" "PAX3" "0000283358" "PAX3" "0000283359" "PAX3" "0000283362" "PAX3" "0000283363" "PAX3" "0000283367" "PAX3" "0000283368" "PAX3" "0000283370" "PAX3" "0000283371" "PAX3" "0000283373" "PAX3" "0000283374" "PAX3" "0000283375" "PAX3" "0000283376" "PAX3" "0000283380" "PAX3" "0000283383" "PAX3" "0000283385" "PAX3" "0000283387" "PAX3" "0000283389" "PAX3" "0000283392" "PAX3" "0000283395" "PAX3" "0000283396" "PAX3" "0000283397" "PAX3" "0000283398" "PAX3" "0000283405" "PAX3" "0000283406" "PAX3" "0000283410" "PAX3" "0000283414" "PAX3" "0000283415" "PAX3" "0000283417" "PAX3" "0000283418" "PAX3" "0000283426" "PAX3" "0000283428" "PAX3" "0000283432" "PAX3" "0000283433" "PAX3" "0000283434" "PAX3" "0000283438" "PAX3" "0000283439" "PAX3" "0000283440" "PAX3" "0000283441" "PAX3" "0000283447" "PAX3" "0000316791" "MITF" "0000316804" "PAX3" "0000316805" "PAX3" "0000316806" "PAX3" "0000316807" "PAX3" "0000316808" "PAX3" "0000316809" "PAX3" "0000316810" "PAX3" "0000316811" "PAX3" "0000316812" "PAX3" "0000316813" "PAX3" "0000316814" "PAX3" "0000316815" "PAX3" "0000316816" "PAX3" "0000316817" "PAX3" "0000316818" "PAX3" "0000316819" "PAX3" "0000316820" "PAX3" "0000316821" "PAX3" "0000316822" "PAX3" "0000316823" "PAX3" "0000316824" "PAX3" "0000316825" "PAX3" "0000316826" "PAX3" "0000316827" "PAX3" "0000316828" "PAX3" "0000316829" "PAX3" "0000316830" "PAX3" "0000316831" "PAX3" "0000316832" "PAX3" "0000316833" "PAX3" "0000316834" "PAX3" "0000316835" "PAX3" "0000316836" "PAX3" "0000316837" "PAX3" "0000316838" "PAX3" "0000316839" "PAX3" "0000316840" "PAX3" "0000316841" "PAX3" "0000316842" "PAX3" "0000316843" "PAX3" "0000316844" "PAX3" "0000316845" "PAX3" "0000316846" "PAX3" "0000316847" "PAX3" "0000316848" "PAX3" "0000316849" "PAX3" "0000316850" "PAX3" "0000316851" "PAX3" "0000316852" "PAX3" "0000316853" "PAX3" "0000316854" "PAX3" "0000316855" "PAX3" "0000316856" "PAX3" "0000316857" "PAX3" "0000316858" "PAX3" "0000316859" "PAX3" "0000316860" "PAX3" "0000316861" "PAX3" "0000316862" "PAX3" "0000316863" "PAX3" "0000316864" "PAX3" "0000316865" "PAX3" "0000316866" "PAX3" "0000316867" "PAX3" "0000316868" "PAX3" "0000316869" "PAX3" "0000316870" "PAX3" "0000316871" "PAX3" "0000316872" "PAX3" "0000316873" "PAX3" "0000316874" "PAX3" "0000316876" "PAX3" "0000316877" "PAX3" "0000316878" "PAX3" "0000316879" "PAX3" "0000316880" "PAX3" "0000316881" "PAX3" "0000316882" "PAX3" "0000316883" "PAX3" "0000316884" "PAX3" "0000316885" "PAX3" "0000316886" "PAX3" "0000316887" "PAX3" "0000316888" "PAX3" "0000316889" "PAX3" "0000316890" "PAX3" "0000316891" "PAX3" "0000316892" "PAX3" "0000316893" "PAX3" "0000316894" "PAX3" "0000316895" "PAX3" "0000316896" "PAX3" "0000316897" "PAX3" "0000316898" "PAX3" "0000316899" "PAX3" "0000316900" "PAX3" "0000316901" "PAX3" "0000316902" "PAX3" "0000316903" "PAX3" "0000316904" "PAX3" "0000316905" "PAX3" "0000316906" "PAX3" "0000316907" "PAX3" "0000316908" "PAX3" "0000316909" "PAX3" "0000316910" "PAX3" "0000316911" "PAX3" "0000316912" "PAX3" "0000316913" "PAX3" "0000316914" "PAX3" "0000316915" "PAX3" "0000316916" "PAX3" "0000316917" "PAX3" "0000316918" "PAX3" "0000316919" "PAX3" "0000316920" "PAX3" "0000316921" "PAX3" "0000316922" "PAX3" "0000316923" "PAX3" "0000316924" "PAX3" "0000316925" "PAX3" "0000316926" "PAX3" "0000316927" "PAX3" "0000316929" "PAX3" "0000316930" "PAX3" "0000316931" "PAX3" "0000316932" "PAX3" "0000316933" "PAX3" "0000316934" "PAX3" "0000316935" "PAX3" "0000316936" "PAX3" "0000316937" "PAX3" "0000316938" "PAX3" "0000316939" "PAX3" "0000316940" "PAX3" "0000316941" "PAX3" "0000316942" "PAX3" "0000316943" "PAX3" "0000316944" "PAX3" "0000316945" "PAX3" "0000316950" "PAX3" "0000378132" "PAX3" "0000378135" "PAX3" "0000378137" "PAX3" "0000381926" "PAX3" "0000381927" "PAX3" "0000381928" "PAX3" "0000382745" "PAX3" "0000382746" "PAX3" "0000409491" "PAX3" "0000417094" "PAX3" "0000417095" "PAX3" "0000467711" "PAX3" ## 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 = 277 "{{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}}" "0000079513" "0" "90" "2" "223086091" "223086091" "subst" "4.06901E-6" "00006" "PAX3_000066" "g.223086091G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.222221372G>A" "" "pathogenic" "" "0000163485" "0" "90" "2" "223160249" "223160249" "subst" "0" "01741" "PAX3_000131" "g.223160249G>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.222295530G>C" "" "pathogenic" "" "0000248510" "0" "10" "2" "223161889" "223161889" "subst" "0.884316" "02325" "PAX3_000134" "g.223161889A>G" "" "" "" "PAX3(NM_181458.4):c.129T>C (p.G43=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.222297170A>G" "" "benign" "" "0000305048" "0" "30" "2" "223161799" "223161799" "subst" "0" "01943" "PAX3_000133" "g.223161799C>T" "" "" "" "PAX3(NM_181458.3):c.219G>A (p.S73=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.222297080C>T" "" "likely benign" "" "0000337528" "0" "10" "2" "223065870" "223065870" "subst" "0.191209" "02327" "PAX3_000135" "g.223065870C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.222201151C>G" "" "benign" "" "0000337529" "0" "10" "2" "223066909" "223066909" "subst" "0" "02327" "PAX3_000136" "g.223066909C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.222202190C>G" "" "benign" "" "0000337530" "0" "90" "2" "223161935" "223161935" "subst" "0" "02327" "PAX3_000156" "g.223161935G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.222297216G>C" "" "pathogenic" "" "0000339689" "0" "10" "2" "223161889" "223161889" "subst" "0.884316" "02327" "PAX3_000134" "g.223161889A>G" "" "" "" "PAX3(NM_181458.4):c.129T>C (p.G43=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.222297170A>G" "" "benign" "" "0000342410" "0" "70" "2" "223096844" "223096844" "subst" "0" "02327" "PAX3_000144" "g.223096844T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.222232125T>C" "" "likely pathogenic" "" "0000342452" "0" "90" "2" "223096805" "223096805" "subst" "0" "02327" "PAX3_000119" "g.223096805G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.222232086G>A" "" "pathogenic" "" "0000342494" "0" "90" "2" "223086091" "223086091" "subst" "4.06901E-6" "02327" "PAX3_000066" "g.223086091G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.222221372G>A" "" "pathogenic" "" "0000342496" "0" "70" "2" "223086088" "223086088" "subst" "0" "02327" "PAX3_000072" "g.223086088G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.222221369G>A" "" "likely pathogenic" "" "0000342497" "0" "90" "2" "223086087" "223086087" "subst" "0" "02327" "PAX3_000074" "g.223086087C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.222221368C>T" "" "pathogenic" "" "0000343749" "0" "70" "2" "223161901" "223161901" "subst" "0" "02327" "PAX3_000155" "g.223161901G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.222297182G>C" "" "likely pathogenic" "" "0000344820" "0" "90" "2" "223161900" "223161900" "subst" "4.87173E-6" "02327" "PAX3_000154" "g.223161900G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.222297181G>A" "" "pathogenic" "" "0000345262" "0" "90" "2" "223096904" "223096904" "subst" "0" "02327" "PAX3_000145" "g.223096904C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.222232185C>A" "" "pathogenic" "" "0000346077" "0" "70" "2" "223161891" "223161891" "subst" "0" "02327" "PAX3_000153" "g.223161891C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.222297172C>T" "" "likely pathogenic" "" "0000347043" "0" "70" "2" "223096817" "223096817" "subst" "0" "02327" "PAX3_000143" "g.223096817G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.222232098G>A" "" "likely pathogenic" "" "0000349156" "0" "90" "2" "223161800" "223161800" "subst" "0" "02327" "PAX3_000021" "g.223161800G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.222297081G>A" "" "pathogenic" "" "0000349444" "0" "10" "2" "223085955" "223085955" "subst" "0.0269133" "02327" "PAX3_000084" "g.223085955G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.222221236G>T" "" "benign" "" "0000351050" "0" "90" "2" "223096795" "223096795" "subst" "0" "02327" "PAX3_000141" "g.223096795A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.222232076A>T" "" "pathogenic" "" "0000351051" "0" "10" "2" "223161862" "223161862" "subst" "0.00332835" "02327" "PAX3_000151" "g.223161862G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.222297143G>C" "" "benign" "" "0000514865" "0" "30" "2" "223066853" "223066853" "subst" "1.65541E-5" "01943" "PAX3_000161" "g.223066853G>A" "" "" "" "PAX3(NM_181457.4):c.1230C>T (p.Y410=), PAX3(NM_181458.3):c.1230C>T (p.Y410=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.222202134G>A" "" "likely benign" "" "0000514866" "0" "30" "2" "223066912" "223066912" "subst" "1.0214E-5" "02327" "PAX3_000163" "g.223066912A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.222202193A>G" "" "likely benign" "" "0000514868" "0" "90" "2" "223086055" "223086055" "subst" "0" "02327" "PAX3_000077" "g.223086055G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.222221336G>A" "" "pathogenic" "" "0000514869" "0" "30" "2" "223086092" "223086092" "subst" "0.000520871" "01943" "PAX3_000164" "g.223086092G>A" "" "" "" "PAX3(NM_181458.3):c.807C>T (p.N269=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.222221373G>A" "" "likely benign" "" "0000514870" "0" "90" "2" "223096829" "223096829" "subst" "0" "02327" "PAX3_000059" "g.223096829G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.222232110G>A" "" "pathogenic" "" "0000514871" "0" "30" "2" "223158452" "223158452" "subst" "0.00023552" "01943" "PAX3_000165" "g.223158452G>A" "" "" "" "PAX3(NM_013942.4):c.611C>T (p.S204F), PAX3(NM_013942.5):c.611C>T (p.(Ser204Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.222293733G>A" "" "likely benign" "" "0000514872" "0" "30" "2" "223158478" "223158478" "subst" "0" "01804" "PAX3_000166" "g.223158478T>G" "" "" "" "PAX3(NM_000438.5):c.*346A>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.222293759T>G" "" "likely benign" "" "0000514873" "0" "30" "2" "223158947" "223158947" "subst" "0.00066187" "01943" "PAX3_000167" "g.223158947C>G" "" "" "" "PAX3(NM_181458.3):c.525G>C (p.K175N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.222294228C>G" "" "likely benign" "" "0000514874" "0" "70" "2" "223161776" "223161776" "subst" "0" "02327" "PAX3_000168" "g.223161776C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.222297057C>A" "" "likely pathogenic" "" "0000514876" "0" "70" "2" "223161834" "223161834" "subst" "0" "01943" "PAX3_000017" "g.223161834T>C" "" "" "" "PAX3(NM_181458.3):c.184A>G (p.M62V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.222297115T>C" "" "likely pathogenic" "" "0000514877" "0" "90" "2" "223163275" "223163275" "subst" "0" "02327" "PAX3_000170" "g.223163275G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.222298556G>C" "" "pathogenic" "" "0000604346" "0" "50" "2" "223160248" "223160248" "subst" "0" "01741" "PAX3_000157" "g.223160248T>C" "" "" "" "" "classification tendency pathogenic" "Germline/De novo (untested)" "" "" "0" "" "" "g.222295529T>C" "" "VUS" "" "0000607549" "0" "50" "2" "223158892" "223158892" "subst" "0.000125886" "02327" "PAX3_000172" "g.223158892C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.222294173C>T" "" "VUS" "" "0000607550" "0" "50" "2" "223161737" "223161737" "subst" "0" "02327" "PAX3_000160" "g.223161737C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.222297018C>A" "" "VUS" "" "0000607551" "0" "90" "2" "223161798" "223161798" "subst" "0" "02327" "PAX3_000175" "g.223161798G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.222297079G>A" "" "pathogenic" "" "0000620976" "0" "50" "2" "223085008" "223085008" "subst" "3.65577E-5" "01943" "PAX3_000171" "g.223085008T>G" "" "" "" "PAX3(NM_181458.3):c.1024A>C (p.S342R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.222220289T>G" "" "VUS" "" "0000639085" "1" "99" "2" "223066869" "223066869" "del" "0" "00004" "PAX3_000159" "g.223066869del" "" "{DB:DVD}, {PMID:DeStefano 1998:9654197}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.222202150del" "" "pathogenic" "" "0000639087" "1" "99" "2" "223084859" "223084859" "subst" "0" "00004" "PAX3_000089" "g.223084859C>G" "" "{DB:DVD}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.222220140C>G" "" "pathogenic" "" "0000639088" "1" "99" "2" "223085067" "223085067" "subst" "0" "00004" "PAX3_000087" "g.223085067G>T" "" "{DB:DVD}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.222220348G>T" "" "pathogenic" "" "0000639093" "1" "99" "2" "223085962" "223085962" "subst" "0" "00004" "PAX3_000083" "g.223085962G>A" "" "{DB:DVD}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.222221243G>A" "" "pathogenic" "" "0000639094" "1" "99" "2" "223085963" "223085963" "subst" "0" "00004" "PAX3_000082" "g.223085963G>T" "" "{DB:DVD}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.222221244G>T" "" "pathogenic" "" "0000639099" "1" "99" "2" "223086055" "223086055" "subst" "0" "00004" "PAX3_000077" "g.223086055G>A" "" "{DB:DVD}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.222221336G>A" "" "pathogenic" "" "0000639100" "1" "99" "2" "223086078" "223086078" "subst" "0" "00004" "PAX3_000076" "g.223086078C>T" "" "{DB:DVD}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.222221359C>T" "" "pathogenic" "" "0000639101" "1" "99" "2" "223086081" "223086081" "subst" "0" "00004" "PAX3_000174" "g.223086081C>T" "" "{DB:DVD}, {PMID:DeStefano 1998:9654197}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.222221362C>T" "" "pathogenic" "" "0000639104" "1" "99" "2" "223086088" "223086088" "subst" "0" "00004" "PAX3_000070" "g.223086088G>C" "" "{DB:DVD}, {PMID:Fortin 1997:9302254}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.222221369G>C" "" "pathogenic" "" "0000639105" "1" "99" "2" "223086090" "223086090" "subst" "0" "00004" "PAX3_000176" "g.223086090C>A" "" "{DB:DVD}, {PMID:Read 1997:9279758}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.222221371C>A" "" "pathogenic" "" "0000639109" "1" "99" "2" "223086101" "223086101" "subst" "0" "00004" "PAX3_000179" "g.223086101C>G" "" "{DB:DVD}, {PMID:Tassabehji 1995:8589691}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.222221382C>G" "" "pathogenic" "" "0000639110" "1" "99" "2" "223086106" "223086106" "subst" "0" "00004" "PAX3_000061" "g.223086106C>A" "" "{DB:DVD}, {PMID:Lalwani 1995:7825605}, {PMID:Fortin 1997:9302254}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.222221387C>A" "" "pathogenic" "" "0000639112" "1" "99" "2" "223096795" "223096795" "subst" "0" "00004" "PAX3_000182" "g.223096795A>G" "" "{DB:DVD}, {PMID:Kujat 2007:17139175}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.222232076A>G" "" "pathogenic" "" "0000639113" "1" "99" "2" "223096796" "223096796" "subst" "0" "00004" "PAX3_000060" "g.223096796C>T" "" "{DB:DVD}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.222232077C>T" "" "pathogenic" "" "0000639115" "1" "99" "2" "223096805" "223096805" "subst" "0" "00004" "PAX3_000119" "g.223096805G>A" "" "{DB:DVD}, {PMID:Markova 2003:12666593}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.222232086G>A" "" "pathogenic" "" "0000639116" "1" "99" "2" "223096829" "223096829" "subst" "0" "00004" "PAX3_000059" "g.223096829G>A" "" "{DB:DVD}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.222232110G>A" "" "pathogenic" "" "0000639117" "1" "99" "2" "223096838" "223096838" "subst" "0" "00004" "PAX3_000058" "g.223096838C>A" "" "{DB:DVD}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.222232119C>A" "" "pathogenic" "" "0000639118" "1" "99" "2" "223096851" "223096863" "del" "0" "00004" "PAX3_000186" "g.223096851_223096863del" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.222232132_222232144del" "" "pathogenic" "" "0000639122" "1" "99" "2" "223096886" "223096886" "subst" "0" "00004" "PAX3_000054" "g.223096886C>A" "" "{DB:DVD}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.222232167C>A" "" "pathogenic" "" "0000639125" "1" "99" "2" "223096922" "223096922" "subst" "4.06379E-6" "00004" "PAX3_000051" "g.223096922G>A" "" "{DB:DVD}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.222232203G>A" "" "pathogenic" "" "0000639127" "1" "99" "2" "223096961" "223096961" "subst" "0" "00004" "PAX3_000050" "g.223096961C>A" "" "{DB:DVD}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.222232242C>A" "" "pathogenic" "" "0000639129" "1" "99" "2" "223096987" "223096987" "subst" "0" "00004" "PAX3_000048" "g.223096987G>T" "" "{DB:DVD}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.222232268G>T" "" "pathogenic" "" "0000639131" "1" "99" "2" "223096991" "223096991" "subst" "0" "00004" "PAX3_000046" "g.223096991G>A" "" "{DB:DVD}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.222232272G>A" "" "pathogenic" "" "0000639134" "1" "99" "2" "223158889" "223158889" "subst" "0" "00004" "PAX3_000044" "g.223158889G>A" "" "{DB:DVD}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.222294170G>A" "" "pathogenic" "" "0000639137" "1" "99" "2" "223159013" "223159016" "dup" "0" "00004" "PAX3_000098" "g.223159013_223159016dup" "" "{DB:DVD}, {PMID:Wang 2010:20664692}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.222294294_222294297dup" "" "pathogenic" "" "0000639138" "1" "99" "2" "223159022" "223159022" "subst" "0" "00004" "PAX3_000042" "g.223159022T>C" "" "{DB:DVD}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.222294303T>C" "" "pathogenic" "" "0000639139" "1" "99" "2" "223160246" "223160246" "subst" "0" "00004" "PAX3_000041" "g.223160246C>T" "" "{DB:DVD}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.222295527C>T" "" "pathogenic" "" "0000639140" "1" "99" "2" "223160246" "223160246" "subst" "0" "00004" "PAX3_000040" "g.223160246C>A" "" "{DB:DVD}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.222295527C>A" "" "pathogenic" "" "0000639147" "1" "99" "2" "223161722" "223161722" "subst" "0" "00004" "PAX3_000033" "g.223161722C>T" "" "{DB:DVD}, {PMID:Fortin 1997:9302254}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.222297003C>T" "" "pathogenic" "" "0000639148" "1" "99" "2" "223161723" "223161723" "subst" "0" "00004" "PAX3_000032" "g.223161723C>T" "" "{DB:DVD}, {PMID:Pingault 2010:20127975}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.222297004C>T" "" "pathogenic" "" "0000639152" "1" "99" "2" "223161739" "223161752" "del" "0" "00004" "PAX3_000028" "g.223161739_223161752del" "" "{DB:DVD}, {PMID:Morell 1992:1303193}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.222297020_222297033del" "" "pathogenic" "" "0000639156" "1" "99" "2" "223161767" "223161767" "subst" "0" "00004" "PAX3_000026" "g.223161767G>A" "" "{DB:DVD}, {PMID:Milunsky 1993:20301703}, {PMID:Zlotogora 1995:7726174}, {PMID:Alford 2014:24651602}, {PMID:Fortin 1997:9302254}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.222297048G>A" "" "pathogenic" "" "0000639157" "1" "99" "2" "223161776" "223161776" "subst" "0" "00004" "PAX3_000025" "g.223161776C>G" "" "{DB:DVD}, {PMID:Tassabehji 1995:8589691}, {PMID:Alford 2014:24651602}, {PMID:Hoth 1993:8447316}, {PMID:Milunsky 1993:20301703}, {PMID:Reynolds 1995:7573125}, {PMID:Fortin 1997:9302254}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.222297057C>G" "" "pathogenic" "" "0000639159" "1" "55" "2" "223161777" "223161777" "subst" "0" "00004" "PAX3_000187" "g.223161777C>A" "" "{DB:DVD}, {PMID:Milunsky 1993:20301703}, {PMID:Alford 2014:24651602}, {PMID:Tang 2015:25991456}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.222297058C>A" "" "VUS" "" "0000639160" "1" "99" "2" "223161780" "223161780" "subst" "0" "00004" "PAX3_000096" "g.223161780G>C" "" "{DB:DVD}, {PMID:Alford 2014:24651602}, {PMID:Milunsky 1993:20301703}, {PMID:Zhang 2012:21965087}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.222297061G>C" "" "pathogenic" "" "0000639168" "1" "99" "2" "223161834" "223161834" "subst" "0" "00004" "PAX3_000017" "g.223161834T>C" "" "{DB:DVD}, {PMID:Pierpont 1994:7833953}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.222297115T>C" "" "pathogenic" "" "0000639170" "1" "99" "2" "223161842" "223161842" "subst" "0" "00004" "PAX3_000094" "g.223161842A>T" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.222297123A>T" "" "pathogenic" "" "0000639174" "1" "99" "2" "223161851" "223161851" "subst" "0" "00004" "PAX3_000011" "g.223161851C>A" "" "{DB:DVD}, {PMID:Carezani-Gavin 1992:1308353}, {PMID:Milunsky 1993:20301703}, {PMID:Alford 2014:24651602}, {PMID:Fortin 1997:9302254}, {PMID:Armoni 2002:12414908}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.222297132C>A" "" "pathogenic" "" "0000639175" "1" "99" "2" "223161854" "223161854" "subst" "0" "00004" "PAX3_000188" "g.223161854A>T" "" "{DB:DVD}, {PMID:Ptok 2006:16160809}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.222297135A>T" "" "pathogenic" "" "0000639176" "1" "99" "2" "223161869" "223161869" "subst" "0" "00004" "PAX3_000010" "g.223161869G>A" "" "{DB:DVD}, {PMID:Baldwin 1992:1347149}, {PMID:Milunsky 1993:20301703}, {PMID:Alford 2014:24651602}, {PMID:da-Silva 1991:1887852}, {PMID:Fortin 1997:9302254}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.222297150G>A" "" "pathogenic" "" "0000639180" "1" "99" "2" "223161876" "223161876" "subst" "0" "00004" "PAX3_000189" "g.223161876C>A" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.222297157C>A" "" "pathogenic" "" "0000639181" "1" "99" "2" "223161877" "223161877" "subst" "0" "00004" "PAX3_000007" "g.223161877G>C" "" "{DB:DVD}, {PMID:Sommer 1983:6859126}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.222297158G>C" "" "pathogenic" "" "0000639182" "1" "99" "2" "223161879" "223161879" "subst" "0" "00004" "PAX3_000006" "g.223161879T>G" "" "{DB:DVD}, {PMID:Sheffer 1992:1536170}, {PMID:Goodman 1982:7091186}, {PMID:Hoth 1993:8447316}, {PMID:Fortin 1997:9302254}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.222297160T>G" "" "pathogenic" "" "0000639183" "1" "99" "2" "223161885" "223161885" "subst" "0" "00004" "PAX3_000005" "g.223161885A>G" "" "{DB:DVD}, {PMID:Tassabehji 1994:7981674}, {PMID:Fortin 1997:9302254}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.222297166A>G" "" "pathogenic" "" "0000639189" "1" "99" "2" "223163271" "223163271" "subst" "0" "00004" "PAX3_000190" "g.223163271G>T" "" "{DB:DVD}, {PMID:Ptok 2006:16160809}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.222298552G>T" "" "pathogenic" "" "0000650472" "1" "50" "2" "223085955" "223085955" "subst" "0.0269133" "03575" "PAX3_000084" "g.223085955G>T" "105/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 105 heterozygous; {DB:CLININrs2234675}" "Germline" "" "rs2234675" "0" "" "" "g.222221236G>T" "" "VUS" "" "0000654576" "0" "30" "2" "223086026" "223086026" "subst" "0.00158143" "01943" "PAX3_000177" "g.223086026G>A" "" "" "" "PAX3(NM_181458.3):c.873C>T (p.P291=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.222221307G>A" "" "likely benign" "" "0000669608" "3" "50" "2" "223085955" "223085955" "subst" "0.0269133" "03575" "PAX3_000084" "g.223085955G>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 homozygous; {DB:CLININrs2234675}" "Germline" "" "rs2234675" "0" "" "" "g.222221236G>T" "" "VUS" "" "0000688668" "0" "30" "2" "223066853" "223066853" "subst" "1.65541E-5" "02325" "PAX3_000161" "g.223066853G>A" "" "" "" "PAX3(NM_181457.4):c.1230C>T (p.Y410=), PAX3(NM_181458.3):c.1230C>T (p.Y410=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000698983" "1" "99" "2" "223161934" "223161934" "subst" "0" "03808" "PAX3_000001" "g.223161934T>C" "" "{PMID:Attaie 1997:9232624}" "" "86-2 A>G" "" "Germline" "" "" "0" "" "" "g.222297215T>C" "" "pathogenic" "" "0000698984" "0" "99" "2" "223161934" "223161934" "subst" "0" "03808" "PAX3_000002" "g.223161934T>A" "" "{PMID:Soejima 1997:9067759}" "" "86>2A>T" "" "Germline" "" "" "0" "" "" "g.222297215T>A" "" "pathogenic" "" "0000698985" "1" "99" "2" "223161917" "223161917" "dup" "0" "03808" "PAX3_000003" "g.223161917dup" "" "{PMID:Morell 1993:7902163}" "" "ins at codon 63 ; 1bpâ–¼34;FS113TER" "" "Germline" "" "" "0" "" "" "g.222297199dup" "" "pathogenic" "" "0000698986" "1" "77" "2" "223161903" "223161903" "subst" "0" "03808" "PAX3_000004" "g.223161903T>A" "" "{PMID:Pingault 2010:20127975}" "" "" "" "Germline" "" "" "0" "" "" "g.222297184T>A" "" "likely pathogenic" "" "0000698987" "1" "77" "2" "223161885" "223161885" "subst" "0" "03808" "PAX3_000005" "g.223161885A>G" "" "{PMID:Tassabehji 1994:7981674}" "" "F45L" "" "Germline" "" "" "0" "" "" "g.222297166A>G" "" "likely pathogenic" "" "0000698988" "1" "77" "2" "223161879" "223161879" "subst" "0" "03808" "PAX3_000006" "g.223161879T>G" "" "{PMID:Hoth 1993:8447316}" "" "352A>C; Asn>His at 47" "" "Germline" "" "" "0" "" "" "g.222297160T>G" "" "likely pathogenic" "" "0000698989" "1" "77" "2" "223161877" "223161877" "subst" "0" "03808" "PAX3_000007" "g.223161877G>C" "" "{PMID:Asher 1996:8664898}" "" "" "" "Germline" "" "" "0" "" "" "g.222297158G>C" "" "likely pathogenic" "" "0000698990" "1" "77" "2" "223161876" "223161876" "subst" "0" "03808" "PAX3_000008" "g.223161876C>G" "" "{PMID:Pandya 1996:8845842}" "" "Gly48>Arg" "" "Germline" "" "" "0" "" "" "g.222297157C>G" "" "likely pathogenic" "" "0000698991" "0" "99" "2" "223161870" "223161873" "dup" "0" "03808" "PAX3_000009" "g.223161870_223161873dup" "" "{PMID:Wollnik 2003:12949970}" "" "Ins146+4 (R49fsX160) dupGGCA" "" "Germline" "" "" "0" "" "" "g.222297154_222297157dup" "" "pathogenic" "" "0000698992" "1" "77" "2" "223161869" "223161869" "subst" "0" "03808" "PAX3_000010" "g.223161869G>A" "" "{PMID:Baldwin 1992:1347149}" "" "Pro (CCG) to Leu (CTG) in exon 2" "" "Germline" "" "" "0" "" "" "g.222297150G>A" "" "likely pathogenic" "" "0000698993" "1" "77" "2" "223161851" "223161851" "subst" "0" "03808" "PAX3_000011" "g.223161851C>A" "" "{PMID:Hoth 1993:8447316}" "" "380G>T; Arg>Leu at 56" "" "Germline" "" "" "0" "" "" "g.222297132C>A" "" "likely pathogenic" "" "0000698994" "0" "77" "2" "223161851" "223161851" "subst" "0" "03808" "PAX3_000012" "g.223161851C>T" "" "{PMID:Pingault 2010:20127975}" "" "" "" "De novo" "" "" "0" "" "" "g.222297132C>T" "" "likely pathogenic" "" "0000698995" "1" "99" "2" "223161849" "223161849" "del" "0" "03808" "PAX3_000013" "g.223161849del" "" "{PMID:Pandya 1996:8845842}" "" "1bp del of (C)169" "" "Germline" "" "" "0" "" "" "g.222297131del" "" "pathogenic" "" "0000698996" "1" "77" "2" "223161843" "223161843" "subst" "0" "03808" "PAX3_000014" "g.223161843T>A" "" "{PMID:Soejima 1997:9067759}" "" "A to T, Ile to Phe at 59" "" "Germline" "" "" "0" "" "" "g.222297124T>A" "" "likely pathogenic" "" "0000698997" "0" "77" "2" "223161840" "223161840" "subst" "0" "03808" "PAX3_000015" "g.223161840C>T" "" "{PMID:Baldwin 1995:8533800}" "" "V60M" "" "Germline" "" "" "0" "" "" "g.222297121C>T" "" "likely pathogenic" "" "0000698998" "0" "77" "2" "223161840" "223161840" "subst" "0" "03808" "PAX3_000015" "g.223161840C>T" "" "{PMID:Wollnik 2003:12949970}" "" "G178A (V60M)" "" "Germline" "" "" "0" "" "" "g.222297121C>T" "" "likely pathogenic" "" "0000698999" "1" "77" "2" "223161834" "223161834" "subst" "0" "03808" "PAX3_000017" "g.223161834T>C" "" "{PMID:Hol 1998:9452070}" "" "M62V" "" "Germline" "" "" "0" "" "" "g.222297115T>C" "" "likely pathogenic" "" "0000699000" "1" "79" "2" "223161816" "223161833" "del" "0" "03808" "PAX3_000018" "g.223161816_223161833del" "" "{PMID:Tassabehji 1992:1347148}" "" "185_202del18" "" "Germline" "" "" "0" "" "" "g.222297097_222297114del" "" "likely pathogenic" "" "0000699001" "0" "99" "2" "223161811" "223161827" "del" "0" "03808" "PAX3_000019" "g.223161811_223161827del" "" "{PMID:Tassabehji 1995:8589691}" "" "nt 191del(17)" "" "Germline" "" "" "0" "" "" "g.222297097_222297113del" "" "pathogenic" "" "0000699002" "1" "77" "2" "223161816" "223161816" "subst" "0" "03808" "PAX3_000020" "g.223161816G>C" "" "{PMID:Pingault 2010:20127975}" "" "" "" "Germline" "" "" "0" "" "" "g.222297097G>C" "" "likely pathogenic" "" "0000699003" "1" "77" "2" "223161800" "223161800" "subst" "0" "03808" "PAX3_000021" "g.223161800G>A" "" "{PMID:Sotirova 2000:10779847}" "" "S73L" "" "Germline" "" "" "0" "" "" "g.222297081G>A" "" "likely pathogenic" "" "0000699004" "1" "99" "2" "223161795" "223161795" "subst" "0" "03808" "PAX3_000022" "g.223161795G>A" "" "{PMID:Pandya 1996:8845842}" "" "Gln75>Term" "" "Germline" "" "" "0" "" "" "g.222297076G>A" "" "pathogenic" "" "0000699005" "0" "77" "2" "223161786" "223161786" "subst" "0" "03808" "PAX3_000023" "g.223161786C>T" "" "{PMID:Tassabehji 1995:8589691}" "" "V78M" "" "Germline" "" "" "0" "" "" "g.222297067C>T" "" "likely pathogenic" "" "0000699006" "0" "77" "2" "223161777" "223161777" "subst" "4.07598E-6" "03808" "PAX3_000024" "g.223161777C>G" "" "{PMID:Pingault 2010:20127975}" "" "" "" "Germline" "" "" "0" "" "" "g.222297058C>G" "" "likely pathogenic" "" "0000699007" "1" "77" "2" "223161776" "223161776" "subst" "0" "03808" "PAX3_000025" "g.223161776C>G" "" "{PMID:Tassabehji 1993:8490648}" "" "Gly to Ala in exon 2" "" "Germline" "" "" "0" "" "" "g.222297057C>G" "" "likely pathogenic" "" "0000699008" "1" "77" "2" "223161767" "223161767" "subst" "0" "03808" "PAX3_000026" "g.223161767G>A" "" "{PMID:Zlotogora 1995:7726174}" "" "S84F" "" "Germline" "" "" "0" "" "" "g.222297048G>A" "" "likely pathogenic" "" "0000699009" "0" "77" "2" "223161767" "223161767" "subst" "0" "03808" "PAX3_000026" "g.223161767G>A" "" "{PMID:Zlotogora 1995:7726174}" "" "S84F" "" "Germline" "" "" "0" "" "" "g.222297048G>A" "" "likely pathogenic" "" "0000699010" "1" "77" "2" "223161765" "223161765" "subst" "0" "03808" "PAX3_000027" "g.223161765T>C" "" "{PMID:Baldwin 1995:8533800}" "" "K85E" "" "Germline" "" "" "0" "" "" "g.222297046T>C" "" "likely pathogenic" "" "0000699011" "1" "99" "2" "223161739" "223161752" "del" "0" "03808" "PAX3_000028" "g.223161739_223161752del" "" "{PMID:Morell 1992:1303193}" "" "14 bp deletion in the paired domain" "" "Germline" "" "" "0" "" "" "g.222297020_222297033del" "" "pathogenic" "" "0000699012" "1" "77" "2" "223161750" "223161750" "subst" "0" "03808" "PAX3_000029" "g.223161750A>G" "" "{PMID:Wollnik 2003:12949970}" "" "T268C (Y90H)" "" "Germline" "" "" "0" "" "" "g.222297031A>G" "" "likely pathogenic" "" "0000699013" "0" "77" "2" "223161750" "223161750" "subst" "0" "03808" "PAX3_000029" "g.223161750A>G" "" "{PMID:Wollnik 2003:12949970}" "" "T268C (Y90H)" "" "Germline" "" "" "0" "" "" "g.222297031A>G" "" "likely pathogenic" "" "0000699014" "1" "99" "2" "223161730" "223161730" "del" "0" "03808" "PAX3_000030" "g.223161730del" "" "{PMID:Tassabehji 1993:8490648}" "" "288delA" "" "Germline" "" "" "0" "" "" "g.222297011del" "" "pathogenic" "" "0000699015" "1" "99" "2" "223161727" "223161727" "dup" "0" "03808" "PAX3_000031" "g.223161727dup" "" "{PMID:Wildhardt 1996:8799378}" "" "Insertion (T) in position 292" "" "Germline" "" "" "0" "" "" "g.222297008dup" "" "pathogenic" "" "0000699016" "2" "77" "2" "223086091" "223086091" "subst" "4.06901E-6" "03808" "PAX3_000066" "g.223086091G>A" "" "Bottani 1999 Am J Hum Genet 65:A143" "" "[Gly99Ser]+[Arg270Cys]" "" "Germline" "" "" "0" "" "" "g.222221372G>A" "" "likely pathogenic" "" "0000699017" "1" "77" "2" "223161723" "223161723" "subst" "0" "03808" "PAX3_000032" "g.223161723C>T" "" "Bottani 1999 Am J Hum Genet 65:A143" "" "[Gly99Ser]+[Arg270Cys]" "" "Germline" "" "" "0" "" "" "g.222297004C>T" "" "likely pathogenic" "" "0000699018" "1" "77" "2" "223161722" "223161722" "subst" "0" "03808" "PAX3_000033" "g.223161722C>T" "" "{PMID:Tassabehji 1994:7981674}" "" "G99D" "" "Germline" "" "" "0" "" "" "g.222297003C>T" "" "likely pathogenic" "" "0000699019" "1" "99" "2" "223161694" "223161721" "del" "0" "03808" "PAX3_000034" "g.223161694_223161721del" "" "{PMID:Baldwin 1994:8019556}" "" "297_321+3del28" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000699020" "0" "99" "2" "223160340" "223160340" "del" "0" "03808" "PAX3_000035" "g.223160340del" "" "{PMID:Tassabehji 1995:8589691}" "" "nt 358del(G)" "" "Germline" "" "" "0" "" "" "g.222295622del" "" "pathogenic" "" "0000699021" "0" "99" "2" "223160329" "223160333" "del" "0" "03808" "PAX3_000036" "g.223160329_223160333del" "" "{PMID:Tassabehji 1995:8589691}" "" "nt 364del(5)" "" "Germline" "" "" "0" "" "" "g.222295611_222295615del" "" "pathogenic" "" "0000699022" "1" "99" "2" "223160301" "223160313" "del" "0" "03808" "PAX3_000037" "g.223160301_223160313del" "" "{PMID:Tekin 2001:11683776}" "" "384del(13)" "" "Germline" "" "" "0" "" "" "g.222295582_222295594del" "" "pathogenic" "" "0000699023" "1" "99" "2" "223160249" "223160264" "del" "0" "03808" "PAX3_000038" "g.223160249_223160264del" "" "{PMID:Read 1997:9279758}" "" "434del16" "" "Germline" "" "" "0" "" "" "g.222295532_222295547del" "" "pathogenic" "" "0000699024" "0" "99" "2" "223160252" "223160252" "del" "0" "03808" "PAX3_000039" "g.223160252del" "" "{PMID:Pingault 2010:20127975}" "" "446delC" "" "Unknown" "" "" "0" "" "" "g.222295534del" "" "pathogenic" "" "0000699025" "1" "99" "2" "223160246" "223160246" "subst" "0" "03808" "PAX3_000040" "g.223160246C>A" "" "{PMID:Tassabehji 1994:7981674}" "" "" "" "Germline" "" "" "0" "" "" "g.222295527C>A" "" "pathogenic" "" "0000699026" "1" "99" "2" "223160246" "223160246" "subst" "0" "03808" "PAX3_000041" "g.223160246C>T" "" "{PMID:Butt 1994:8162027}" "" "G to A at the exon3-intron 3 boundary" "" "Germline" "" "" "0" "" "" "g.222295527C>T" "" "pathogenic" "" "0000699027" "1" "99" "2" "223159022" "223159022" "subst" "0" "03808" "PAX3_000042" "g.223159022T>C" "" "{PMID:Tassabehji 1994:7981674}" "" "" "" "Germline" "" "" "0" "" "" "g.222294303T>C" "" "pathogenic" "" "0000699028" "1" "99" "2" "223158913" "223158914" "del" "0" "03808" "PAX3_000043" "g.223158913_223158914del" "" "{PMID:Tassabehji 1993:8490648}" "" "558_559delCA" "" "Germline" "" "" "0" "" "" "g.222294197_222294198del" "" "pathogenic" "" "0000699029" "0" "99" "2" "223158889" "223158889" "subst" "0" "03808" "PAX3_000044" "g.223158889G>A" "" "{PMID:Read 1997:9279758}" "" "R195X" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000699030" "0" "77" "2" "223158886" "223158886" "subst" "0" "03808" "PAX3_000045" "g.223158886C>T" "" "{PMID:Tassabehji 1995:8589691}" "" "A196T" "splice or missense variant?" "Unknown" "" "" "0" "" "" "g.222294167C>T" "" "likely pathogenic" "" "0000699031" "1" "77" "2" "223158886" "223158886" "subst" "0" "03808" "PAX3_000045" "g.223158886C>T" "" "{PMID:Wollnik 2003:12949970}" "" "G586A (A196T)" "splice or missense variant?" "Germline" "" "" "0" "" "" "g.222294167C>T" "" "likely pathogenic" "" "0000699032" "1" "99" "2" "223096991" "223096991" "subst" "0" "03808" "PAX3_000046" "g.223096991G>A" "" "{PMID:Baldwin 1995:8533800}" "" "Q200X" "" "Germline" "" "" "0" "" "" "g.222232272G>A" "" "pathogenic" "" "0000699033" "1" "99" "2" "223096988" "223096992" "del" "0" "03808" "PAX3_000047" "g.223096988_223096992del" "" "{PMID:Hol 1995:7897628}" "" "598_602delCAATC" "" "Germline" "" "" "0" "" "" "g.222232269_222232273del" "" "pathogenic" "" "0000699034" "1" "99" "2" "223096987" "223096987" "subst" "0" "03808" "PAX3_000048" "g.223096987G>T" "" "{PMID:Baldwin 1995:8533800}" "" "S201X" "" "Germline" "" "" "0" "" "" "g.222232268G>T" "" "pathogenic" "" "0000699035" "0" "99" "2" "223096962" "223096963" "del" "0" "03808" "PAX3_000049" "g.223096962_223096963del" "" "{PMID:Yang 2007:17254487}" "" "S209X" "" "De novo" "" "" "0" "" "" "g.222232245_222232246del" "" "pathogenic" "" "0000699036" "1" "99" "2" "223096961" "223096961" "subst" "0" "03808" "PAX3_000050" "g.223096961C>A" "" "{PMID:Pandya 1996:8845842}" "" "Glu210>Term" "same number of CA repeats in the 5\' of the gene" "Germline" "" "" "0" "" "" "g.222232242C>A" "" "pathogenic" "" "0000699037" "1" "99" "2" "223096961" "223096961" "subst" "0" "03808" "PAX3_000050" "g.223096961C>A" "" "{PMID:Pandya 1996:8845842}" "" "Glu210>Term" "same number of CA repeats in the 5\' of the gene" "Germline" "" "" "0" "" "" "g.222232242C>A" "" "pathogenic" "" "0000699038" "1" "99" "2" "223096922" "223096922" "subst" "4.06379E-6" "03808" "PAX3_000051" "g.223096922G>A" "" "{PMID:Baldwin 1994:8019556}" "" "Arg223 to stop" "" "Germline" "" "" "0" "" "" "g.222232203G>A" "" "pathogenic" "" "0000699039" "1" "99" "2" "223096922" "223096922" "subst" "4.06379E-6" "03808" "PAX3_000051" "g.223096922G>A" "" "{PMID:Pandya 1996:8845842}" "" "Arg223>Term" "" "Germline" "" "" "0" "" "" "g.222232203G>A" "" "pathogenic" "" "0000699040" "0" "99" "2" "223096922" "223096922" "subst" "4.06379E-6" "03808" "PAX3_000051" "g.223096922G>A" "" "{PMID:Yang 2007:17254487}" "" "R223X" "" "Unknown" "" "" "0" "" "" "g.222232203G>A" "" "pathogenic" "" "0000699041" "0" "99" "2" "223096922" "223096922" "subst" "4.06379E-6" "03808" "PAX3_000051" "g.223096922G>A" "" "{PMID:Pingault 2010:20127975}" "" "" "" "De novo" "" "" "0" "" "" "g.222232203G>A" "" "pathogenic" "" "0000699042" "1" "77" "2" "223096921" "223096921" "subst" "4.06395E-6" "03808" "PAX3_000052" "g.223096921C>T" "" "{PMID:Destefano 1998:9654197}" "" "R223Q" "" "Germline" "" "" "0" "" "" "g.222232202C>T" "" "likely pathogenic" "" "0000699043" "1" "77" "2" "223096888" "223096888" "subst" "0" "03808" "PAX3_000053" "g.223096888A>G" "" "{PMID:Qin 2006:16971891}" "" "701T>C" "" "Germline" "" "" "0" "" "" "g.222232169A>G" "" "likely pathogenic" "" "0000699044" "1" "99" "2" "223096886" "223096886" "subst" "0" "03808" "PAX3_000054" "g.223096886C>A" "" "{PMID:Baldwin 1995:8533800}" "" "E235X" "" "Germline" "" "" "0" "" "" "g.222232167C>A" "" "pathogenic" "" "0000699045" "0" "99" "2" "223096875" "223096877" "delins" "0" "03808" "PAX3_000055" "g.223096875_223096877delinsCAGGGTAATG" "" "{PMID:Pingault 2010:20127975}" "" "712_714delTTTinsCATTACCCTG" "" "De novo" "" "" "0" "" "" "g.222232156_222232158delinsCAGGGTAATG" "" "pathogenic" "" "0000699046" "0" "77" "2" "223096876" "223096876" "subst" "0" "03808" "PAX3_000056" "g.223096876A>G" "" "{PMID:Baldwin 1995:8533800}" "" "F238S" "" "Germline" "" "" "0" "" "" "g.222232157A>G" "" "likely pathogenic" "" "0000699047" "0" "77" "2" "223096861" "223096861" "subst" "0" "03808" "PAX3_000057" "g.223096861T>G" "" "{PMID:Kozawa 2009:18704124}" "" "" "" "Germline" "" "" "0" "" "" "g.222232142T>G" "" "likely pathogenic" "" "0000699048" "0" "99" "2" "223096838" "223096838" "subst" "0" "03808" "PAX3_000058" "g.223096838C>A" "" "{PMID:Tassabehji 1995:8589691}" "" "E251X" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000699049" "0" "99" "2" "223096829" "223096829" "subst" "0" "03808" "PAX3_000059" "g.223096829G>A" "" "{PMID:Tassabehji 1995:8589691}" "" "Q254X" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000699050" "1" "99" "2" "223096796" "223096796" "subst" "0" "03808" "PAX3_000060" "g.223096796C>T" "" "{PMID:Wollnik 2003:12949970}" "" "IVS5+1G>A" "" "Germline" "" "" "0" "" "" "g.222232077C>T" "" "pathogenic" "" "0000699051" "1" "77" "2" "223086106" "223086106" "subst" "0" "03808" "PAX3_000061" "g.223086106C>A" "" "{PMID:Lalwani 1995:7825605}" "" "Valine to Phenylalanine at 265" "splice or missense variant?" "Germline" "" "" "0" "" "" "g.222221387C>A" "" "likely pathogenic" "" "0000699052" "0" "99" "2" "223086101" "223086101" "" "0" "03808" "PAX3_000062" "g.223086101^223086102C>T" "" "{PMID:Read 1997:9279758}" "" "W266X" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000699053" "0" "77" "2" "223086101" "223086101" "" "0" "03808" "PAX3_000063" "g.223086101C>R" "" "{PMID:Tassabehji 1995:8589691}" "" "W266C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000699054" "0" "77" "2" "223086100" "223086100" "subst" "0" "03808" "PAX3_000064" "g.223086100A>T" "" "{PMID:Nakamura 2009:18761541}" "" "801T>A" "" "Germline" "" "" "0" "" "" "g.222221381A>T" "" "likely pathogenic" "" "0000699056" "0" "77" "2" "223086091" "223086091" "subst" "4.06901E-6" "03808" "PAX3_000066" "g.223086091G>A" "" "{PMID:Tassabehji 1995:8589691}" "" "R270C" "" "Germline" "" "" "0" "" "" "g.222221372G>A" "" "likely pathogenic" "" "0000699057" "1" "77" "2" "223086091" "223086091" "subst" "4.06901E-6" "03808" "PAX3_000066" "g.223086091G>A" "" "{PMID:Pandya 1996:8845842}" "" "Arg270>Cys" "" "Germline" "" "" "0" "" "" "g.222221372G>A" "" "likely pathogenic" "" "0000699058" "0" "77" "2" "223086091" "223086091" "subst" "4.06901E-6" "03808" "PAX3_000066" "g.223086091G>A" "" "{PMID:Read 1997:9279758}" "" "R270L" "" "Germline" "" "" "0" "" "" "g.222221372G>A" "" "likely pathogenic" "" "0000699059" "1" "77" "2" "223086088" "223086088" "subst" "0" "03808" "PAX3_000070" "g.223086088G>C" "" "{PMID:Lalwani 1995:7825605}" "" "Arg 271 [GCC]>Gly 271 [GGC]" "" "Germline" "" "" "0" "" "" "g.222221369G>C" "" "likely pathogenic" "" "0000699060" "0" "77" "2" "223086088" "223086088" "subst" "0" "03808" "PAX3_000072" "g.223086088G>A" "" "{PMID:Tassabehji 1995:8589691}" "" "R271C" "" "Germline" "" "" "0" "" "" "g.222221369G>A" "" "likely pathogenic" "" "0000699061" "0" "77" "2" "223086088" "223086088" "subst" "0" "03808" "PAX3_000072" "g.223086088G>A" "" "{PMID:Wildhardt 1996:8799378}" "" "C to T at 811, Arg to Cys at 271" "" "Germline" "" "" "0" "" "" "g.222221369G>A" "" "likely pathogenic" "" "0000699062" "1" "77" "2" "223086088" "223086088" "subst" "0" "03808" "PAX3_000072" "g.223086088G>A" "" "{PMID:Morell 1997:9017978}" "" "810C>T" "" "Germline" "" "" "0" "" "" "g.222221369G>A" "" "likely pathogenic" "" "0000699063" "1" "77" "2" "223086088" "223086088" "subst" "0" "03808" "PAX3_000072" "g.223086088G>A" "" "{PMID:Pingault 2010:20127975}" "" "" "" "Germline" "" "" "0" "" "" "g.222221369G>A" "" "likely pathogenic" "" "0000699064" "0" "77" "2" "223086087" "223086087" "subst" "0" "03808" "PAX3_000074" "g.223086087C>T" "" "{PMID:Tassabehji 1995:8589691}" "" "R271H" "" "Germline" "" "" "0" "" "" "g.222221368C>T" "" "likely pathogenic" "" "0000699065" "1" "77" "2" "223086087" "223086087" "subst" "0" "03808" "PAX3_000074" "g.223086087C>T" "" "{PMID:Pandya 1996:8845842}" "" "[812G>A;818G>A]" "2 variations on the same allele. The effect of an isolated p.Arg273Lys is unknown" "Germline" "" "" "0" "" "" "g.222221368C>T" "" "likely pathogenic" "" "0000699066" "0" "99" "2" "223086077" "223086077" "" "0" "03808" "PAX3_000075" "g.223086077^223086078T>C" "" "{PMID:Tassabehji 1995:8589691}" "" "W274X" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000699067" "1" "99" "2" "223086078" "223086078" "subst" "0" "03808" "PAX3_000076" "g.223086078C>T" "" "{PMID:Morell 1997:9017978}" "" "820G>A" "" "Germline" "" "" "0" "" "" "g.222221359C>T" "" "pathogenic" "" "0000699068" "1" "99" "2" "223086055" "223086055" "subst" "0" "03808" "PAX3_000077" "g.223086055G>A" "" "{PMID:Hol 1998:9452070}" "" "Q282X" "" "Germline" "" "" "0" "" "" "g.222221336G>A" "" "pathogenic" "" "0000699069" "1" "99" "2" "223086020" "223086020" "dup" "0" "03808" "PAX3_000078" "g.223086020dup" "" "{PMID:Baldwin 1995:8533800}, {PMID:Morell 1997:9017978}" "" "874ins1" "Possibly germ-line mosaicism" "Germline" "" "" "0" "" "" "g.222221306dup" "" "pathogenic" "" "0000699070" "0" "99" "2" "223086020" "223086020" "dup" "0" "03808" "PAX3_000078" "g.223086020dup" "" "{PMID:Tassabehji 1995:8589691}" "" "nt 874ins(G)" "" "Germline" "" "" "0" "" "" "g.222221306dup" "" "pathogenic" "" "0000699071" "0" "99" "2" "223086020" "223086020" "dup" "0" "03808" "PAX3_000078" "g.223086020dup" "" "{PMID:Tassabehji 1995:8589691}" "" "nt 874ins(G)" "" "Germline" "" "" "0" "" "" "g.222221306dup" "" "pathogenic" "" "0000699072" "1" "99" "2" "223086020" "223086020" "del" "0" "03808" "PAX3_000079" "g.223086020del" "" "{PMID:Pingault 2010:20127975}" "" "879delG" "" "Germline" "" "" "0" "" "" "g.222221306del" "" "pathogenic" "" "0000699073" "0" "99" "2" "223085984" "223085984" "" "0" "03808" "PAX3_000080" "g.223085984G>Y" "" "{PMID:Read 1997:9279758}" "" "Y305X" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000699074" "0" "99" "2" "223085983" "223085983" "del" "0" "03808" "PAX3_000081" "g.223085983del" "" "{PMID:Tassabehji 1995:8589691}" "" "916delC" "" "Germline" "" "" "0" "" "" "g.222221265del" "" "pathogenic" "" "0000699075" "0" "99" "2" "223085963" "223085963" "subst" "0" "03808" "PAX3_000082" "g.223085963G>T" "" "{PMID:Pingault 2010:20127975}" "" "" "" "Germline" "" "" "0" "" "" "g.222221244G>T" "" "pathogenic" "" "0000699076" "1" "99" "2" "223085962" "223085962" "subst" "0" "03808" "PAX3_000083" "g.223085962G>A" "" "{PMID:Baldwin 1995:8533800}" "" "Q313X" "" "Germline" "" "" "0" "" "" "g.222221243G>A" "" "pathogenic" "" "0000699077" "0" "11" "2" "223085955" "223085955" "subst" "0.0269133" "03808" "PAX3_000084" "g.223085955G>T" "0.00-0.08" "{PMID:Tassabehji 1995:8589691}" "" "T315K" "" "Germline" "" "rs2234675" "0" "" "" "g.222221236G>T" "" "benign" "" "0000699078" "1" "99" "2" "223085945" "223085945" "del" "0" "03808" "PAX3_000085" "g.223085945del" "" "{PMID:Baldwin 1995:8533800}" "" "954del1" "" "Germline" "" "" "0" "" "" "g.222221226del" "" "pathogenic" "" "0000699079" "0" "77" "2" "223085913" "223085913" "subst" "0" "03808" "PAX3_000086" "g.223085913T>A" "" "{PMID:Pingault 2010:20127975}" "" "" "In silico analysis predicts creation of a new donnor splice site" "Germline" "" "" "0" "" "" "g.222221194T>A" "" "likely pathogenic" "" "0000699080" "1" "99" "2" "223085067" "223085067" "subst" "0" "03808" "PAX3_000087" "g.223085067G>T" "" "{PMID:Pingault 2010:20127975}" "" "" "Likely germline mosaicism" "Germline" "" "" "0" "" "" "g.222220348G>T" "" "pathogenic" "" "0000699081" "0" "33" "2" "223084911" "223084911" "subst" "3.255E-5" "03808" "PAX3_000088" "g.223084911G>A" "0.00-0.03" "" "" "" "" "Germline" "" "rs45607236" "0" "" "" "g.222220192G>A" "" "likely benign" "" "0000699082" "1" "99" "2" "223084859" "223084859" "subst" "0" "03808" "PAX3_000089" "g.223084859C>G" "" "{PMID:Carey 1998:9541113}" "" "Q391H" "splice or missense variant?" "Germline" "" "" "0" "" "" "g.222220140C>G" "" "pathogenic" "" "0000699083" "1" "99" "2" "223066897" "223066898" "ins" "0" "03808" "PAX3_000090" "g.223066897_223066898insTCA" "" "{PMID:Baldwin 1995:8533800}" "" "1185ins3" "" "Germline" "" "" "0" "" "" "g.222202178_222202179insTCA" "" "pathogenic" "" "0000699084" "1" "77" "2" "223066812" "223066812" "del" "0" "03808" "PAX3_000091" "g.223066812del" "" "{PMID:Pingault 2010:20127975}" "" "1271delC" "" "Germline" "" "" "0" "" "" "g.222202093del" "" "likely pathogenic" "" "0000699085" "0" "99" "2" "223161758" "223161758" "del" "0" "03808" "PAX3_000092" "g.223161758del" "" "{PMID:Pingault 2010:20127975}" "" "260delT" "" "Germline" "" "" "0" "" "" "g.222297039del" "" "pathogenic" "" "0000699086" "0" "99" "2" "223096922" "223096922" "subst" "4.06379E-6" "03808" "PAX3_000051" "g.223096922G>A" "" "{PMID:Pingault 2010:20127975}" "" "" "" "Germline" "" "" "0" "" "" "g.222232203G>A" "" "pathogenic" "" "0000699087" "0" "99" "2" "223086026" "223086026" "dup" "0" "03808" "PAX3_000093" "g.223086026dup" "" "{PMID:Pingault 2010:20127975}" "" "873dupC" "" "Germline" "" "" "0" "" "" "g.222221309dup" "" "pathogenic" "" "0000699088" "0" "77" "2" "223161842" "223161842" "subst" "0" "03808" "PAX3_000094" "g.223161842A>T" "" "Markova 1998 Human Mutation, Mutation and polymorphism report#34 online" "" "t176t->A, I59N" "" "Germline" "" "" "0" "" "" "g.222297123A>T" "" "likely pathogenic" "" "0000699089" "0" "77" "2" "223086088" "223086088" "subst" "0" "03808" "PAX3_000072" "g.223086088G>A" "" "{PMID:Eigelshoven 2009:20199465}" "" "C811T, R271C" "" "Unknown" "" "" "0" "" "" "g.222221369G>A" "" "likely pathogenic" "" "0000699090" "0" "77" "2" "223161729" "223161734" "dup" "0" "03808" "PAX3_000095" "g.223161729_223161734dup" "" "{PMID:Kohli 2010:21488309}" "" "duplication of 6bp (ccatc) at codon 96" "" "Germline" "" "" "0" "" "" "g.222297010_222297015dup" "" "likely pathogenic" "" "0000699091" "0" "97" "2" "223161780" "223161780" "subst" "0" "03808" "PAX3_000096" "g.223161780G>C" "" "{PMID:Chen 2010:20478267}" "" "" "inherited from an unaffected father" "Unknown" "" "" "0" "" "" "g.222297061G>C" "" "pathogenic" "" "0000699092" "0" "99" "2" "223158916" "223158916" "del" "0" "03808" "PAX3_000097" "g.223158916del" "" "{PMID:Chen 2010:20478267}" "" "556delC" "" "Unknown" "" "" "0" "" "" "g.222294197del" "" "pathogenic" "" "0000699093" "0" "97" "2" "223086091" "223086091" "subst" "4.06901E-6" "03808" "PAX3_000066" "g.223086091G>A" "" "{PMID:Chen 2010:20478267}" "" "" "" "Germline" "" "" "0" "" "" "g.222221372G>A" "" "pathogenic" "" "0000699094" "0" "99" "2" "223159014" "223159017" "dup" "0" "03808" "PAX3_000098" "g.223159014_223159017dup" "" "{PMID:Wang 2010:20664692}" "" "456_459dupTTCC, p.Ile154PhefsX162" "455_458dupGTTC confirmed by authors" "De novo" "" "" "0" "" "" "g.222294295_222294298dup" "" "pathogenic" "" "0000699095" "0" "99" "2" "223158869" "223158905" "del" "0" "03808" "PAX3_000099" "g.223158869_223158905del" "" "{PMID:Wang 2010:20664692}" "" "567_586+17del37" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000699096" "0" "99" "2" "223096922" "223096922" "subst" "4.06379E-6" "03808" "PAX3_000051" "g.223096922G>A" "" "{PMID:Wang 2010:20664692}" "" "" "" "Unknown" "" "" "0" "" "" "g.222232203G>A" "" "pathogenic" "" "0000699097" "0" "97" "2" "223086099" "223086104" "del" "0" "03808" "PAX3_000100" "g.223086099_223086104del" "" "{PMID:Wang 2010:20664692}" "" "795_800delCTGGTT" "" "De novo" "" "" "0" "" "" "g.222221381_222221386del" "" "pathogenic" "" "0000699098" "1" "97" "2" "223086100" "223086100" "subst" "0" "03808" "PAX3_000064" "g.223086100A>T" "" "{PMID:Wang 2010:20664692}" "" "" "" "Germline" "" "" "0" "" "" "g.222221381A>T" "" "pathogenic" "" "0000699099" "0" "99" "2" "223066432" "223163715" "" "0" "03808" "PAX3_000101" "g.(?_223066432)_(223163715_?)del" "" "{PMID:Wu 1993:8449034}, {PMID:Lu-Kuo 1993:8486353}" "" "deletion 2q35-q36,1 or deletion (2)(q35q36.2)" "whole gene deletion?" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000699100" "0" "99" "2" "223066432" "223163715" "" "0" "03808" "PAX3_000102" "g.(?_223066432)_(223163715_?)del" "" "{PMID:Pasteris 1993:8103404}" "" "del (2)(q35q36)" "whole gene deletion?" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000699101" "0" "99" "2" "223066432" "223163715" "" "0" "03808" "PAX3_000103" "g.(?_223066432)_(223163715_?)del" "" "{PMID:Pasteris 1993:8103404}" "" "del (2)(q33q35)" "whole gene deletion?" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000699102" "0" "99" "2" "223066432" "223163715" "" "0" "03808" "PAX3_000104" "g.(?_223066432)_(223163715_?)del" "" "{PMID:Tassabehji 1994:7981674}" "" "deletion 2q34-q36,2" "whole gene deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000699103" "0" "99" "2" "223066432" "223163715" "" "0" "03808" "PAX3_000105" "g.(?_223066432)_(223163715_?)del" "" "{PMID:Milunsky 2007:17627390}" "" "whole gene deletion" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000699104" "0" "99" "2" "223066432" "223163715" "" "0" "03808" "PAX3_000106" "g.(?_223066432)_(223163715_?)del" "" "{PMID:Milunsky 2007:17627390}" "" "whole gene deletion" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000699105" "0" "99" "2" "223066432" "223163715" "" "0" "03808" "PAX3_000107" "g.(?_223066432)_(223163715_?)del" "" "{PMID:Milunsky 2007:17627390}" "" "whole gene deletion" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000699106" "10" "99" "2" "0" "0" "" "0" "03808" "PAX3_000108" "g.?" "" "{PMID:Milunsky 2007:17627390}" "" "Exon 1 deletion" "4.07kb deletion including exon1 and promoter" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000699107" "0" "99" "2" "223066432" "223097003" "del" "0" "03808" "PAX3_000109" "g.(?_223066432)_(223097003_223158885)del" "" "{PMID:Milunsky 2007:17627390}" "" "Exon 5-9 deletion" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000699108" "21" "99" "2" "223159022" "223159022" "subst" "0" "03808" "PAX3_000042" "g.223159022T>C" "" "{PMID:Yang 2013:22320238}" "" "" "" "Germline" "" "" "0" "" "" "g.222294303T>C" "" "pathogenic" "" "0000699109" "21" "77" "2" "223161843" "223161843" "subst" "0" "03808" "PAX3_000014" "g.223161843T>A" "" "{PMID:Matsunaga 2013:23163891}" "" "" "" "Germline" "" "" "0" "" "" "g.222297124T>A" "" "likely pathogenic" "" "0000699110" "21" "99" "2" "223066432" "223163715" "" "0" "03808" "PAX3_000111" "g.(?_223066432)_(223163715_?)del" "" "{PMID:Matsunaga 2013:23163891}" "" "" "whole gene deletion, 1.8-2.6 Mb" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000699111" "11" "77" "2" "223096801" "223096801" "subst" "0" "03808" "PAX3_000112" "g.223096801A>C" "" "{PMID:Hazan 2013:23378733}" "" "" "" "Germline" "" "" "0" "" "" "g.222232082A>C" "" "likely pathogenic" "" "0000699112" "0" "99" "2" "223161907" "223161907" "dup" "0" "03808" "PAX3_000113" "g.223161907dup" "" "{PMID:Wildhardt 2013:23512835}" "" "111dupC" "" "Germline" "" "" "0" "" "" "g.222297188dup" "" "pathogenic" "" "0000699113" "20" "77" "2" "223161875" "223161875" "subst" "0" "03808" "PAX3_000114" "g.223161875C>T" "" "{PMID:Wildhardt 2013:23512835}" "" "" "" "Germline" "" "" "0" "" "" "g.222297156C>T" "" "likely pathogenic" "" "0000699114" "10" "77" "2" "223161832" "223161832" "subst" "0" "03808" "PAX3_000115" "g.223161832C>T" "" "{PMID:Wildhardt 2013:23512835}" "" "" "" "Germline" "" "" "0" "" "" "g.222297113C>T" "" "likely pathogenic" "" "0000699115" "0" "99" "2" "223160298" "223160298" "subst" "0" "03808" "PAX3_000116" "g.223160298G>A" "" "{PMID:Wildhardt 2013:23512835}" "" "" "" "Germline" "" "" "0" "" "" "g.222295579G>A" "" "pathogenic" "" "0000699116" "10" "99" "2" "223097000" "223097000" "del" "0" "03808" "PAX3_000117" "g.223097000del" "" "{PMID:Wildhardt 2013:23512835}" "" "589delT" "" "Germline" "" "" "0" "" "" "g.222232281del" "" "pathogenic" "" "0000699117" "10" "99" "2" "223096934" "223096934" "subst" "0" "03808" "PAX3_000118" "g.223096934G>A" "" "{PMID:Wildhardt 2013:23512835}" "" "" "" "Germline" "" "" "0" "" "" "g.222232215G>A" "" "pathogenic" "" "0000699118" "20" "99" "2" "223096805" "223096805" "subst" "0" "03808" "PAX3_000119" "g.223096805G>A" "" "{PMID:Wildhardt 2013:23512835}" "" "" "" "Germline" "" "" "0" "" "" "g.222232086G>A" "" "pathogenic" "" "0000699119" "0" "99" "2" "223086107" "223086107" "subst" "0" "03808" "PAX3_000120" "g.223086107C>A" "" "{PMID:Wildhardt 2013:23512835}" "" "" "" "De novo" "" "" "0" "" "" "g.222221388C>A" "" "pathogenic" "" "0000699120" "0" "99" "2" "223085943" "223085953" "del" "0" "03808" "PAX3_000121" "g.223085943_223085953del" "" "{PMID:Wildhardt 2013:23512835}" "" "" "" "Germline" "" "" "0" "" "" "g.222221229_222221239del" "" "pathogenic" "" "0000699121" "0" "99" "2" "223085944" "223085944" "subst" "0" "03808" "PAX3_000122" "g.223085944G>A" "" "{PMID:Wildhardt 2013:23512835}" "" "" "" "Germline" "" "" "0" "" "" "g.222221225G>A" "" "pathogenic" "" "0000699122" "10" "99" "2" "223066432" "223163715" "" "0" "03808" "PAX3_000123" "g.(?_223066432)_(223163715_?)del" "" "{PMID:Wildhardt 2013:23512835}" "" "(?_-61)_(1452-33_?)" "whole gene deletion" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000699123" "0" "97" "2" "223084858" "223085074" "del" "0" "03808" "PAX3_000124" "g.(223066910_223084858)_(223085074_223085940)del" "" "{PMID:Wildhardt 2013:23512835}" "" "958+?_1174-?del" "Exon 7 deletion" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000699124" "0" "99" "2" "223066432" "223066910" "del" "0" "03808" "PAX3_000125" "g.(?_223066432)_(223066910_223084858)del" "" "{PMID:Wildhardt 2013:23512835}" "" "1173+?_(1452-33_?)del" "Deletion of exons 8 and 9" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000699125" "0" "99" "2" "223066432" "223163715" "" "0" "03808" "PAX3_000126" "g.(?_223066432)_(223163715_?)del" "" "{PMID:Wildhardt 2013:23512835}" "" "(?_-61)_(1452-33_?)" "whole gene deletion" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000699130" "1" "50" "2" "223086081" "223086081" "subst" "0" "03808" "PAX3_000174" "g.223086081C>T" "" "{PMID:Pandya 1996:8845842}" "" "[812G>A;818G>A]" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000699131" "0" "90" "2" "223159022" "223159022" "subst" "0" "00006" "PAX3_000042" "g.223159022T>C" "" "{PMID:Yang 2013:22320238}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000763565" "21" "90" "2" "223161852" "223161852" "subst" "0" "03219" "PAX3_000191" "g.223161852G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000763567" "0" "90" "2" "223086070" "223086070" "subst" "0" "03219" "PAX3_000192" "g.223086070G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790804" "21" "70" "2" "223161737" "223161737" "subst" "0" "04006" "PAX3_000160" "g.223161737C>A" "" "{PMID:Batissoco 2021:34599368}" "" "" "" "Germline" "yes" "" "" "" "" "" "{CV-SCV:001792232}" "likely pathogenic (dominant)" "ACMG" "0000790807" "10" "70" "2" "223161737" "223161737" "subst" "0" "04006" "PAX3_000160" "g.223161737C>A" "" "{PMID:Batissoco 2021:34599368}" "" "" "" "Germline" "yes" "" "" "" "" "" "{CV-SCV:001792232}" "likely pathogenic (dominant)" "ACMG" "0000790809" "10" "70" "2" "223161737" "223161737" "subst" "0" "04006" "PAX3_000160" "g.223161737C>A" "" "{PMID:Batissoco 2021:34599368}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000794254" "0" "90" "2" "223084935" "223084935" "del" "0" "01807" "PAX3_000193" "g.223084935del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.222220216del" "" "pathogenic" "" "0000795502" "11" "90" "2" "223096922" "223096922" "subst" "4.06379E-6" "04006" "PAX3_000051" "g.223096922G>A" "" "{PMID:Batissoco 2021:34599368}" "" "" "" "Germline" "yes" "" "" "" "" "" "{CV-SCV:001792239}" "pathogenic (dominant)" "ACMG" "0000795503" "0" "90" "2" "223096922" "223096922" "subst" "4.06379E-6" "04006" "PAX3_000051" "g.223096922G>A" "" "{PMID:Batissoco 2021:34599368}" "" "" "" "Unknown" "yes" "" "" "" "" "" "{CV-SCV:001792239}" "pathogenic (dominant)" "ACMG" "0000795504" "21" "90" "2" "223096922" "223096922" "subst" "4.06379E-6" "04006" "PAX3_000051" "g.223096922G>A" "" "{PMID:Batissoco 2021:34599368}" "" "" "" "Germline" "yes" "" "" "" "" "" "{CV-SCV:001792239}" "pathogenic (dominant)" "ACMG" "0000796585" "11" "70" "2" "223158884" "223158884" "subst" "0" "04006" "PAX3_000194" "g.223158884A>T" "" "{PMID:Batissoco 2021:34599368}" "" "" "" "Germline" "yes" "" "0" "" "" "g.222294165A>T" "{CV-SCV:001792234}" "pathogenic (dominant)" "ACMG" "0000796586" "0" "70" "2" "223158884" "223158884" "subst" "0" "04006" "PAX3_000194" "g.223158884A>T" "" "{PMID:Batissoco 2021:34599368}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.222294165A>T" "{CV-SCV:001792234}" "pathogenic (dominant)" "ACMG" "0000800429" "0" "30" "2" "223084914" "223084914" "subst" "0.000219648" "01943" "CCDC140_000001" "g.223084914G>A" "" "" "" "PAX3(NM_181458.3):c.1118C>T (p.P373L), PAX3(NM_181458.4):c.1118C>T (p.(Pro373Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000846664" "10" "90" "2" "223159022" "223159022" "subst" "0" "04294" "PAX3_000042" "g.223159022T>C" "" "{PMID:Li 2019:30936914}" "" "" "" "Germline" "" "" "0" "" "" "g.222294303T>C" "" "pathogenic (dominant)" "ACMG" "0000849759" "0" "90" "2" "223096922" "223096922" "subst" "4.06379E-6" "02327" "PAX3_000051" "g.223096922G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000849760" "0" "30" "2" "223158829" "223158829" "subst" "0.000401031" "01943" "CCDC140_000002" "g.223158829T>C" "" "" "" "PAX3(NM_000438.5):c.643A>G (p.S215G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000876610" "10" "90" "2" "223086064" "223086064" "del" "0" "04294" "PAX3_000195" "g.223086064del" "" "" "" "838delG" "" "Germline" "yes" "" "0" "" "" "g.222221345del" "" "pathogenic" "ACMG" "0000876611" "0" "70" "2" "223161804" "223161804" "subst" "0" "04294" "PAX3_000196" "g.223161804T>C" "" "" "" "" "" "Germline/De novo (untested)" "-" "" "0" "" "" "" "" "VUS" "ACMG" "0000881231" "0" "90" "2" "223096922" "223096922" "subst" "4.06379E-6" "02300" "PAX3_000051" "g.223096922G>A" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PVS1, PM1, PM2, PP3, PP4, PP5" "Germline/De novo (untested)" "" "rs772241382" "0" "" "" "g.222232203G>A" "" "pathogenic (dominant)" "ACMG" "0000884952" "0" "50" "2" "223085997" "223085997" "subst" "0" "02325" "CCDC140_000003" "g.223085997G>A" "" "" "" "PAX3(NM_181457.4):c.902C>T (p.T301I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923633" "0" "90" "2" "223161712" "223161712" "del" "0" "02327" "CCDC140_000004" "g.223161712del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000944325" "1" "70" "2" "223160384" "223160433" "del" "0" "00006" "PAX3_000197" "g.223160384_223160433del" "" "{PMID:Chen 2021:34956325}" "" "" "effect on splicing predicted from mini-gene splicing assay" "Germline" "yes" "" "0" "" "" "g.222295665_222295714del" "" "VUS" "" "0000944373" "0" "70" "2" "223160345" "223160345" "subst" "0" "00006" "PAX3_000198" "g.223160345A>G" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.222295626A>G" "" "likely pathogenic (dominant)" "" "0000958589" "1" "90" "2" "223084935" "223084935" "del" "0" "00006" "PAX3_000193" "g.223084935del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.222220216del" "1275818" "pathogenic (dominant)" "ACMG" "0000975027" "0" "50" "2" "223066758" "223066758" "subst" "4.06752E-6" "01804" "CCDC140_000005" "g.223066758A>T" "" "" "" "PAX3(NM_181458.4):c.1325T>A (p.(Leu442Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975028" "0" "30" "2" "223067387" "223067387" "subst" "0" "01804" "CCDC140_000006" "g.223067387T>C" "" "" "" "PAX3(NM_181458.4):c.1174-478A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975029" "0" "30" "2" "223084914" "223084914" "subst" "0.000219648" "01804" "CCDC140_000001" "g.223084914G>A" "" "" "" "PAX3(NM_181458.3):c.1118C>T (p.P373L), PAX3(NM_181458.4):c.1118C>T (p.(Pro373Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975030" "0" "70" "2" "223084997" "223084997" "del" "0" "01804" "CCDC140_000007" "g.223084997del" "" "" "" "PAX3(NM_181458.4):c.1036del (p.(Ser346ProfsTer35))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000975031" "0" "30" "2" "223096791" "223096791" "subst" "4.06369E-6" "01804" "CCDC140_000008" "g.223096791C>T" "" "" "" "PAX3(NM_181458.4):c.792+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990013" "11" "70" "2" "223086090" "223086090" "subst" "0" "03544" "PAX3_000199" "g.223086090C>T" "" "" "" "" "inherited from an unaffected father; causative variants may exhibit incomplete penetrance and variable phenotypic manifestation" "Germline" "?" "" "0" "" "" "g.222221371C>T" "{CV:2664999}" "likely pathogenic (!)" "ACMG" "0000992565" "0" "30" "2" "223158893" "223158893" "subst" "1.21824E-5" "01804" "CCDC140_000009" "g.223158893G>T" "" "" "" "PAX3(NM_181459.3):c.579C>A (p.(Ser193Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992566" "0" "50" "2" "223168800" "223168800" "subst" "4.06289E-6" "01804" "CCDC140_000010" "g.223168800G>A" "" "" "" "CCDC140(NM_153038.1):c.179G>A (p.(Arg60Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013671" "0" "50" "2" "223158911" "223158911" "subst" "9.33942E-5" "02325" "CCDC140_000011" "g.223158911G>C" "" "" "" "PAX3(NM_181457.4):c.561C>G (p.S187R), PAX3(NM_181458.4):c.561C>G (p.(Ser187Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013672" "0" "50" "2" "223161852" "223161852" "subst" "0" "02327" "PAX3_000191" "g.223161852G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033039" "0" "30" "2" "223066133" "223066133" "subst" "0.00013055" "01804" "CCDC140_000012" "g.223066133G>A" "" "" "" "PAX3(NM_181461.4):c.1202C>T (p.(Ser401Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033040" "0" "50" "2" "223066765" "223066765" "subst" "4.06805E-6" "01804" "CCDC140_000013" "g.223066765C>T" "" "" "" "PAX3(NM_181458.4):c.1318G>A (p.(Asp440Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033041" "0" "50" "2" "223084917" "223084917" "subst" "3.66008E-5" "01804" "CCDC140_000014" "g.223084917G>A" "" "" "" "PAX3(NM_181458.4):c.1115C>T (p.(Pro372Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033042" "0" "50" "2" "223158461" "223158461" "subst" "8.1215E-6" "01804" "CCDC140_000015" "g.223158461G>A" "" "" "" "PAX3(NM_013942.5):c.602C>T (p.(Ser201Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033043" "0" "90" "2" "223158916" "223158917" "del" "0" "01804" "PAX3_000043" "g.223158916_223158917del" "" "" "" "PAX3(NM_181458.4):c.558_559del (p.(His186Glnfs*17))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001033044" "0" "50" "2" "223161717" "223161717" "subst" "0" "01804" "CCDC140_000016" "g.223161717T>C" "" "" "" "PAX3(NM_181458.4):c.301A>G (p.(Ile101Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044894" "1" "90" "2" "223163283" "223163283" "subst" "0" "00006" "PAX3_000201" "g.223163283G>A" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.222298564G>A" "" "pathogenic (dominant)" "" "0001044895" "1" "90" "2" "223097004" "223097004" "subst" "0" "00006" "PAX3_000200" "g.223097004T>C" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.222232285T>C" "" "pathogenic (dominant)" "" "0001046966" "0" "70" "2" "223161751" "223161751" "subst" "0" "01741" "PAX3_000202" "g.223161751C>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.222297032C>A" "" "likely pathogenic" "" "0001051097" "0" "50" "2" "223158452" "223158452" "subst" "0.00023552" "01804" "PAX3_000165" "g.223158452G>A" "" "" "" "PAX3(NM_013942.4):c.611C>T (p.S204F), PAX3(NM_013942.5):c.611C>T (p.(Ser204Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051098" "0" "50" "2" "223158911" "223158911" "subst" "9.33942E-5" "01804" "CCDC140_000011" "g.223158911G>C" "" "" "" "PAX3(NM_181457.4):c.561C>G (p.S187R), PAX3(NM_181458.4):c.561C>G (p.(Ser187Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051099" "0" "30" "2" "223161694" "223161694" "subst" "4.16309E-6" "01804" "CCDC140_000017" "g.223161694C>T" "" "" "" "PAX3(NM_181458.4):c.321+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001063798" "0" "50" "2" "223085004" "223085004" "subst" "0" "01804" "CCDC140_000018" "g.223085004G>A" "" "" "" "PAX3(NM_181458.4):c.1028C>T (p.(Thr343Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes PAX3 ## Count = 277 "{{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}}" "0000079513" "00024240" "00" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Cys)" "6" "0000163485" "00024240" "90" "449" "0" "449" "0" "c.449C>G" "r.(?)" "p.(Ser150*)" "3" "0000248510" "00024240" "10" "129" "0" "129" "0" "c.129T>C" "r.(?)" "p.(Gly43=)" "" "0000305048" "00024240" "30" "219" "0" "219" "0" "c.219G>A" "r.(?)" "p.(Ser73=)" "" "0000337528" "00024240" "10" "2213" "0" "2213" "0" "c.*773G>C" "r.(=)" "p.(=)" "" "0000337529" "00024240" "10" "1174" "0" "1174" "0" "c.1174G>C" "r.(?)" "p.(Val392Leu)" "" "0000337530" "00024240" "90" "86" "-3" "86" "-3" "c.86-3C>G" "r.spl?" "p.?" "" "0000339689" "00024240" "10" "129" "0" "129" "0" "c.129T>C" "r.(?)" "p.(Gly43=)" "" "0000342410" "00024240" "70" "745" "0" "745" "0" "c.745A>G" "r.(?)" "p.(Arg249Gly)" "" "0000342452" "00024240" "90" "784" "0" "784" "0" "c.784C>T" "r.(?)" "p.(Arg262Ter)" "" "0000342494" "00024240" "90" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Cys)" "" "0000342496" "00024240" "70" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Arg271Cys)" "" "0000342497" "00024240" "90" "812" "0" "812" "0" "c.812G>A" "r.(?)" "p.(Arg271His)" "" "0000343749" "00024240" "70" "117" "0" "117" "0" "c.117C>G" "r.(?)" "p.(Asn39Lys)" "" "0000344820" "00024240" "90" "118" "0" "118" "0" "c.118C>T" "r.(?)" "p.(Gln40Ter)" "" "0000345262" "00024240" "90" "685" "0" "685" "0" "c.685G>T" "r.(?)" "p.(Glu229Ter)" "" "0000346077" "00024240" "70" "127" "0" "127" "0" "c.127G>A" "r.(?)" "p.(Gly43Ser)" "" "0000347043" "00024240" "70" "772" "0" "772" "0" "c.772C>T" "r.(?)" "p.(Leu258Phe)" "" "0000349156" "00024240" "90" "218" "0" "218" "0" "c.218C>T" "r.(?)" "p.(Ser73Leu)" "" "0000349444" "00024240" "10" "944" "0" "944" "0" "c.944C>A" "r.(?)" "p.(Thr315Lys)" "" "0000351050" "00024240" "90" "792" "2" "792" "2" "c.792+2T>A" "r.spl?" "p.?" "" "0000351051" "00024240" "10" "156" "0" "156" "0" "c.156C>G" "r.(?)" "p.(Pro52=)" "" "0000514865" "00024240" "30" "1230" "0" "1230" "0" "c.1230C>T" "r.(?)" "p.(Tyr410=)" "" "0000514866" "00024240" "30" "1174" "-3" "1174" "-3" "c.1174-3T>C" "r.spl?" "p.?" "" "0000514868" "00024240" "90" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.(Gln282Ter)" "" "0000514869" "00024240" "30" "807" "0" "807" "0" "c.807C>T" "r.(?)" "p.(Asn269=)" "" "0000514870" "00024240" "90" "760" "0" "760" "0" "c.760C>T" "r.(?)" "p.(Gln254Ter)" "" "0000514871" "00024240" "30" "586" "434" "586" "434" "c.586+434C>T" "r.(=)" "p.(=)" "" "0000514872" "00024240" "30" "586" "408" "586" "408" "c.586+408A>C" "r.(=)" "p.(=)" "" "0000514873" "00024240" "30" "525" "0" "525" "0" "c.525G>C" "r.(?)" "p.(Lys175Asn)" "" "0000514874" "00024240" "70" "242" "0" "242" "0" "c.242G>T" "r.(?)" "p.(Gly81Val)" "" "0000514876" "00024240" "70" "184" "0" "184" "0" "c.184A>G" "r.(?)" "p.(Met62Val)" "" "0000514877" "00024240" "90" "60" "0" "60" "0" "c.60C>G" "r.(?)" "p.(Tyr20Ter)" "" "0000604346" "00024240" "50" "450" "0" "450" "0" "c.450A>G" "r.(?)" "p.(=)" "" "0000607549" "00024240" "50" "580" "0" "580" "0" "c.580G>A" "r.(?)" "p.(Glu194Lys)" "" "0000607550" "00024240" "50" "281" "0" "281" "0" "c.281G>T" "r.(?)" "p.(Gly94Val)" "" "0000607551" "00024240" "90" "220" "0" "220" "0" "c.220C>T" "r.(?)" "p.(Arg74Cys)" "" "0000620976" "00024240" "50" "1024" "0" "1024" "0" "c.1024A>C" "r.(?)" "p.(Ser342Arg)" "" "0000639085" "00024240" "99" "1214" "0" "1214" "0" "c.1214del" "r.(?)" "p.(Gln405Argfs*29)" "8" "0000639087" "00024240" "99" "1173" "0" "1173" "0" "c.1173G>C" "r.(?)" "p.(Gln391His)" "7" "0000639088" "00024240" "99" "965" "0" "965" "0" "c.965C>A" "r.(?)" "p.(Ser322*)" "7" "0000639093" "00024240" "99" "937" "0" "937" "0" "c.937C>T" "r.(?)" "p.(Gln313*)" "6" "0000639094" "00024240" "99" "936" "0" "936" "0" "c.936C>A" "r.(?)" "p.(Tyr312*)" "6" "0000639099" "00024240" "99" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.(Gln282*)" "6" "0000639100" "00024240" "99" "821" "0" "821" "0" "c.821G>A" "r.(?)" "p.(Trp274*)" "6" "0000639101" "00024240" "99" "818" "0" "818" "0" "c.818G>A" "r.(?)" "p.(Arg273Lys)" "6" "0000639104" "00024240" "99" "811" "0" "811" "0" "c.811C>G" "r.(?)" "p.(Arg271Gly)" "6" "0000639105" "00024240" "99" "809" "0" "809" "0" "c.809G>T" "r.(?)" "p.(Arg270Leu)" "6" "0000639109" "00024240" "99" "798" "0" "798" "0" "c.798G>C" "r.(?)" "p.(Trp266Cys)" "6" "0000639110" "00024240" "99" "793" "0" "793" "0" "c.793G>T" "r.(?)" "p.(Val265Phe)" "6" "0000639112" "00024240" "99" "792" "2" "792" "2" "c.792+2T>C" "r.spl?" "p.?" "5i" "0000639113" "00024240" "99" "792" "1" "792" "1" "c.792+1G>A" "r.spl?" "p.?" "5i" "0000639115" "00024240" "99" "784" "0" "784" "0" "c.784C>T" "r.(?)" "p.(Arg262*)" "5" "0000639116" "00024240" "99" "760" "0" "760" "0" "c.760C>T" "r.(?)" "p.(Gln254*)" "5" "0000639117" "00024240" "99" "751" "0" "751" "0" "c.751G>T" "r.(?)" "p.(Glu251*)" "5" "0000639118" "00024240" "99" "727" "0" "739" "0" "c.727_739del" "r.(?)" "p.(Tyr243Ilefs*37)" "5" "0000639122" "00024240" "99" "703" "0" "703" "0" "c.703G>T" "r.(?)" "p.(Glu235*)" "5" "0000639125" "00024240" "99" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223*)" "5" "0000639127" "00024240" "99" "628" "0" "628" "0" "c.628G>T" "r.(?)" "p.(Glu210*)" "5" "0000639129" "00024240" "99" "602" "0" "602" "0" "c.602C>A" "r.(?)" "p.(Ser201*)" "5" "0000639131" "00024240" "99" "598" "0" "598" "0" "c.598C>T" "r.(?)" "p.(Gln200*)" "5" "0000639134" "00024240" "99" "583" "0" "583" "0" "c.583C>T" "r.(?)" "p.(Arg195*)" "4" "0000639137" "00024240" "99" "456" "0" "459" "0" "c.456_459dup" "r.(?)" "p.(Ile154Phefs*9)" "4" "0000639138" "00024240" "99" "452" "-2" "452" "-2" "c.452-2A>G" "r.spl?" "p.?" "3i" "0000639139" "00024240" "99" "451" "1" "451" "1" "c.451+1G>A" "r.spl?" "p.?" "3i" "0000639140" "00024240" "99" "451" "1" "451" "1" "c.451+1G>T" "r.spl?" "p.?" "3i" "0000639147" "00024240" "99" "296" "0" "296" "0" "c.296G>A" "r.(?)" "p.(Gly99Asp)" "2" "0000639148" "00024240" "99" "295" "0" "295" "0" "c.295G>A" "r.(?)" "p.(Gly99Ser)" "2" "0000639152" "00024240" "99" "268" "0" "281" "0" "c.268_281del" "r.(?)" "p.(Tyr90Leufs*19)" "2" "0000639156" "00024240" "99" "251" "0" "251" "0" "c.251C>T" "r.(?)" "p.(Ser84Phe)" "2" "0000639157" "00024240" "99" "242" "0" "242" "0" "c.242G>C" "r.(?)" "p.(Gly81Ala)" "2" "0000639159" "00024240" "55" "241" "0" "241" "0" "c.241G>T" "r.(?)" "p.(Gly81Cys)" "2" "0000639160" "00024240" "99" "238" "0" "238" "0" "c.238C>G" "r.(?)" "p.(His80Asp)" "2" "0000639168" "00024240" "99" "184" "0" "184" "0" "c.184A>G" "r.(?)" "p.(Met62Val)" "2" "0000639170" "00024240" "99" "176" "0" "176" "0" "c.176T>A" "r.(?)" "p.(Ile59Asn)" "2" "0000639174" "00024240" "99" "167" "0" "167" "0" "c.167G>T" "r.(?)" "p.(Arg56Leu)" "2" "0000639175" "00024240" "99" "164" "0" "164" "0" "c.164T>A" "r.(?)" "p.(Ile55Asn)" "2" "0000639176" "00024240" "99" "149" "0" "149" "0" "c.149C>T" "r.(?)" "p.(Pro50Leu)" "2" "0000639180" "00024240" "99" "142" "0" "142" "0" "c.142G>T" "r.(?)" "p.(Gly48Cys)" "2" "0000639181" "00024240" "99" "141" "0" "141" "0" "c.141C>G" "r.(?)" "p.(Asn47Lys)" "2" "0000639182" "00024240" "99" "139" "0" "139" "0" "c.139A>C" "r.(?)" "p.(Asn47His)" "2" "0000639183" "00024240" "99" "133" "0" "133" "0" "c.133T>C" "r.(?)" "p.(Phe45Leu)" "2" "0000639189" "00024240" "99" "64" "0" "64" "0" "c.64C>A" "r.(?)" "p.(Arg22Ser)" "1" "0000650472" "00024240" "50" "944" "0" "944" "0" "c.944C>A" "r.(?)" "p.(Thr315Lys)" "" "0000654576" "00024240" "30" "873" "0" "873" "0" "c.873C>T" "r.(?)" "p.(Pro291=)" "" "0000669608" "00024240" "50" "944" "0" "944" "0" "c.944C>A" "r.(?)" "p.(Thr315Lys)" "" "0000688668" "00024240" "30" "1230" "0" "1230" "0" "c.1230C>T" "r.(?)" "p.(Tyr410=)" "" "0000698983" "00024240" "99" "86" "-2" "86" "-2" "c.86-2A>G" "r.spl" "p.?" "1i" "0000698984" "00024240" "99" "86" "-2" "86" "-2" "c.86-2A>T" "r.spl" "p.?" "1i" "0000698985" "00024240" "99" "101" "0" "101" "0" "c.101dup" "r.(?)" "p.(Gln35Profs*79)" "2" "0000698986" "00024240" "77" "115" "0" "115" "0" "c.115A>T" "r.(?)" "p.(Asn39Tyr)" "2" "0000698987" "00024240" "77" "133" "0" "133" "0" "c.133T>C" "r.(?)" "p.(Phe45Leu)" "2" "0000698988" "00024240" "77" "139" "0" "139" "0" "c.139A>C" "r.(?)" "p.(Asn47His)" "2" "0000698989" "00024240" "77" "141" "0" "141" "0" "c.141C>G" "r.(?)" "p.(Asn47Lys)" "2" "0000698990" "00024240" "77" "142" "0" "142" "0" "c.142G>C" "r.(?)" "p.(Gly48Arg)" "2" "0000698991" "00024240" "99" "145" "0" "148" "0" "c.145_148dup" "r.(?)" "p.(Pro50Glnfs*65)" "2" "0000698992" "00024240" "77" "149" "0" "149" "0" "c.149C>T" "r.(?)" "p.(Pro50Leu)" "2" "0000698993" "00024240" "77" "167" "0" "167" "0" "c.167G>T" "r.(?)" "p.(Arg56Leu)" "2" "0000698994" "00024240" "77" "167" "0" "167" "0" "c.167G>A" "r.(?)" "p.(Arg56His)" "2" "0000698995" "00024240" "99" "169" "0" "169" "0" "c.169del" "r.(?)" "p.(His57Thrfs*53)" "2" "0000698996" "00024240" "77" "175" "0" "175" "0" "c.175A>T" "r.(?)" "p.(Ile59Phe)" "2" "0000698997" "00024240" "77" "178" "0" "178" "0" "c.178G>A" "r.(?)" "p.(Val60Met)" "2" "0000698998" "00024240" "77" "178" "0" "178" "0" "c.178G>A" "r.(?)" "p.(Val60Met)" "2" "0000698999" "00024240" "77" "184" "0" "184" "0" "c.184A>G" "r.(?)" "p.(Met62Val)" "2" "0000699000" "00024240" "79" "185" "0" "202" "0" "c.185_202del" "r.(?)" "p.(Met62_Ile67del)" "2" "0000699001" "00024240" "99" "191" "0" "207" "0" "c.191_207del" "r.(?)" "p.(His64Leufs*44)" "2" "0000699002" "00024240" "77" "202" "0" "202" "0" "c.202C>G" "r.(?)" "p.(Arg68Gly)" "2" "0000699003" "00024240" "77" "218" "0" "218" "0" "c.218C>T" "r.(?)" "p.(Ser73Leu)" "2" "0000699004" "00024240" "99" "223" "0" "223" "0" "c.223C>T" "r.(?)" "p.(Gln75*)" "2" "0000699005" "00024240" "77" "232" "0" "232" "0" "c.232G>A" "r.(?)" "p.(Val78Met)" "2" "0000699006" "00024240" "77" "241" "0" "241" "0" "c.241G>C" "r.(?)" "p.(Gly81Arg)" "2" "0000699007" "00024240" "77" "242" "0" "242" "0" "c.242G>C" "r.(?)" "p.(Gly81Ala)" "2" "0000699008" "00024240" "77" "251" "0" "251" "0" "c.251C>T" "r.(?)" "p.(Ser84Phe)" "2" "0000699009" "00024240" "77" "251" "0" "251" "0" "c.251C>T" "r.(?)" "p.(Ser84Phe)" "2" "0000699010" "00024240" "77" "253" "0" "253" "0" "c.253A>G" "r.(?)" "p.(Lys85Glu)" "2" "0000699011" "00024240" "99" "266" "0" "279" "0" "c.266_279del" "r.(?)" "p.(Tyr90Leufs*19)" "2" "0000699012" "00024240" "77" "268" "0" "268" "0" "c.268T>C" "r.(?)" "p.(Tyr90His)" "2" "0000699013" "00024240" "77" "268" "0" "268" "0" "c.268T>C" "r.(?)" "p.(Tyr90His)" "2" "0000699014" "00024240" "99" "288" "0" "288" "0" "c.288del" "r.(?)" "p.(Arg97Valfs*13)" "2" "0000699015" "00024240" "99" "291" "0" "291" "0" "c.291dup" "r.(?)" "p.(Pro98Serfs*16)" "2" "0000699016" "00024240" "77" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Cys)" "6" "0000699017" "00024240" "77" "295" "0" "295" "0" "c.295G>A" "r.(?)" "p.(Gly99Ser)" "2" "0000699018" "00024240" "77" "296" "0" "296" "0" "c.296G>A" "r.(?)" "p.(Gly99Asp)" "2" "0000699019" "00024240" "99" "297" "0" "321" "3" "c.297_321+3del" "r.spl" "p.?" "2" "0000699020" "00024240" "99" "358" "0" "358" "0" "c.358del" "r.(?)" "p.(Glu120Asnfs*32)" "3" "0000699021" "00024240" "99" "365" "0" "369" "0" "c.365_369del" "r.(?)" "p.(Lys122Argfs*21)" "3" "0000699022" "00024240" "99" "386" "0" "398" "0" "c.386_398del" "r.(?)" "p.(Phe129Serfs*19)" "3" "0000699023" "00024240" "99" "434" "0" "449" "0" "c.434_449del" "r.(?)" "p.(Arg145Glnfs*2)" "3" "0000699024" "00024240" "99" "446" "0" "446" "0" "c.446del" "r.(?)" "p.(Pro149Argfs*3)" "3" "0000699025" "00024240" "99" "451" "1" "451" "1" "c.451+1G>T" "r.spl" "p.?" "3i" "0000699026" "00024240" "99" "451" "1" "451" "1" "c.451+1G>A" "r.spl" "p.?" "3i" "0000699027" "00024240" "99" "452" "-2" "452" "-2" "c.452-2A>G" "r.spl" "p.?" "3i" "0000699028" "00024240" "99" "558" "0" "559" "0" "c.558_559del" "r.(?)" "p.(His186Glnfs*17)" "4" "0000699029" "00024240" "99" "583" "0" "583" "0" "c.583C>T" "r.(?)" "p.(Arg195*)" "4" "0000699030" "00024240" "77" "586" "0" "586" "0" "c.586G>A" "r.spl?" "p.?" "4" "0000699031" "00024240" "77" "586" "0" "586" "0" "c.586G>A" "r.spl?" "p.?" "4" "0000699032" "00024240" "99" "598" "0" "598" "0" "c.598C>T" "r.(?)" "p.(Gln200*)" "5" "0000699033" "00024240" "99" "598" "0" "602" "0" "c.598_602del" "r.(?)" "p.(Gln200Argfs*2)" "5" "0000699034" "00024240" "99" "602" "0" "602" "0" "c.602C>A" "r.(?)" "p.(Ser201*)" "5" "0000699035" "00024240" "99" "626" "0" "627" "0" "c.626_627del" "r.(?)" "p.(Ser209*)" "5" "0000699036" "00024240" "99" "628" "0" "628" "0" "c.628G>T" "r.(?)" "p.(Glu210*)" "5" "0000699037" "00024240" "99" "628" "0" "628" "0" "c.628G>T" "r.(?)" "p.(Glu210*)" "5" "0000699038" "00024240" "99" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223*)" "5" "0000699039" "00024240" "99" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223*)" "5" "0000699040" "00024240" "99" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223*)" "5" "0000699041" "00024240" "99" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223*)" "5" "0000699042" "00024240" "77" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223Gln)" "5" "0000699043" "00024240" "77" "701" "0" "701" "0" "c.701T>C" "r.(?)" "p.(Leu234Pro)" "5" "0000699044" "00024240" "99" "703" "0" "703" "0" "c.703G>T" "r.(?)" "p.(Glu235*)" "5" "0000699045" "00024240" "99" "712" "0" "714" "0" "c.712_714delinsCATTACCCTG" "r.(?)" "p.(Phe238Hisfs*10)" "5" "0000699046" "00024240" "77" "713" "0" "713" "0" "c.713T>C" "r.(?)" "p.(Phe238Ser)" "5" "0000699047" "00024240" "77" "728" "0" "728" "0" "c.728A>C" "r.(?)" "p.(Tyr243Ser)" "5" "0000699048" "00024240" "99" "751" "0" "751" "0" "c.751G>T" "r.(?)" "p.(Glu251*)" "5" "0000699049" "00024240" "99" "760" "0" "760" "0" "c.760C>T" "r.(?)" "p.(Gln254*)" "5" "0000699050" "00024240" "99" "792" "1" "792" "1" "c.792+1G>A" "r.spl" "p.?" "5i" "0000699051" "00024240" "77" "793" "0" "793" "0" "c.793G>T" "r.spl?" "p.?" "6" "0000699052" "00024240" "99" "797" "0" "797" "0" "c.797^798G>A" "r.(?)" "p.(Trp266*)" "6" "0000699053" "00024240" "77" "798" "0" "798" "0" "c.798G>Y" "r.(?)" "p.(Trp266Cys)" "6" "0000699054" "00024240" "77" "799" "0" "799" "0" "c.799T>A" "r.(?)" "p.(Phe267Ile)" "6" "0000699056" "00024240" "77" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Cys)" "6" "0000699057" "00024240" "77" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Cys)" "6" "0000699058" "00024240" "77" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Cys)" "6" "0000699059" "00024240" "77" "811" "0" "811" "0" "c.811C>G" "r.(?)" "p.(Arg271Gly)" "6" "0000699060" "00024240" "77" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Arg271Cys)" "6" "0000699061" "00024240" "77" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Arg271Cys)" "6" "0000699062" "00024240" "77" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Arg271Cys)" "6" "0000699063" "00024240" "77" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Arg271Cys)" "6" "0000699064" "00024240" "77" "812" "0" "812" "0" "c.812G>A" "r.(?)" "p.(Arg271His)" "6" "0000699065" "00024240" "77" "812" "0" "812" "0" "c.812G>A" "r.(?)" "p.(Arg271His)" "6" "0000699066" "00024240" "99" "821" "0" "821" "0" "c.821^822A>G" "r.(?)" "p.(Trp274*)" "6" "0000699067" "00024240" "99" "821" "0" "821" "0" "c.821G>A" "r.(?)" "p.(Trp274*)" "6" "0000699068" "00024240" "99" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.(Gln282*)" "6" "0000699069" "00024240" "99" "879" "0" "879" "0" "c.879dup" "r.(?)" "p.(Phe294Valfs*116)" "6" "0000699070" "00024240" "99" "879" "0" "879" "0" "c.879dup" "r.(?)" "p.(Phe294Valfs*116)" "6" "0000699071" "00024240" "99" "879" "0" "879" "0" "c.879dup" "r.(?)" "p.(Phe294Valfs*116)" "6" "0000699072" "00024240" "99" "879" "0" "879" "0" "c.879del" "r.(?)" "p.(Phe294Serfs*87)" "6" "0000699073" "00024240" "99" "915" "0" "915" "0" "c.915C>R" "r.(?)" "p.(Tyr305*)" "6" "0000699074" "00024240" "99" "916" "0" "916" "0" "c.916del" "r.(?)" "p.(Gln306Serfs*75)" "6" "0000699075" "00024240" "99" "936" "0" "936" "0" "c.936C>A" "r.(?)" "p.(Tyr312*)" "6" "0000699076" "00024240" "99" "937" "0" "937" "0" "c.937C>T" "r.(?)" "p.(Gln313*)" "6" "0000699077" "00024240" "11" "944" "0" "944" "0" "c.944C>A" "r.(?)" "p.(Thr315Lys)" "6" "0000699078" "00024240" "99" "954" "0" "954" "0" "c.954del" "r.(?)" "p.(Gln319Lysfs*62)" "6" "0000699079" "00024240" "77" "958" "28" "958" "28" "c.958+28A>T" "r.spl?" "p.?" "6i" "0000699080" "00024240" "99" "965" "0" "965" "0" "c.965C>A" "r.(?)" "p.(Ser322*)" "7" "0000699081" "00024240" "33" "1121" "0" "1121" "0" "c.1121C>T" "r.(?)" "p.(Ser374Leu)" "7" "0000699082" "00024240" "99" "1173" "0" "1173" "0" "c.1173G>C" "r.spl?" "p.?" "7" "0000699083" "00024240" "99" "1185" "0" "1186" "0" "c.1185_1186insTGA" "r.(?)" "p.(Leu396*)" "8" "0000699084" "00024240" "77" "1271" "0" "1271" "0" "c.1271del" "r.(?)" "p.(Thr424Argfs*10)" "8" "0000699085" "00024240" "99" "260" "0" "260" "0" "c.260del" "r.(?)" "p.(Leu87Argfs*23)" "2" "0000699086" "00024240" "99" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223*)" "5" "0000699087" "00024240" "99" "873" "0" "873" "0" "c.873dup" "r.(?)" "p.(Gly292Argfs*118)" "6" "0000699088" "00024240" "77" "176" "0" "176" "0" "c.176T>A" "r.(?)" "p.(Ile59Asn)" "2" "0000699089" "00024240" "77" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Arg271Cys)" "6" "0000699090" "00024240" "77" "284" "0" "289" "0" "c.284_289dup" "r.(?)" "p.(Ile96_Arg97insProIle)" "2" "0000699091" "00024240" "97" "238" "0" "238" "0" "c.238C>G" "r.(?)" "p.(His80Asp)" "2" "0000699092" "00024240" "99" "556" "0" "556" "0" "c.556del" "r.(?)" "p.(His186Thrfs*7)" "4" "0000699093" "00024240" "97" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Cys)" "6" "0000699094" "00024240" "99" "455" "0" "458" "0" "c.455_458dup" "r.(?)" "p.(Ile154Phefs*9)" "4" "0000699095" "00024240" "99" "567" "0" "586" "17" "c.567_586+17del" "r.spl" "p.?" "4" "0000699096" "00024240" "99" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223*)" "5" "0000699097" "00024240" "97" "795" "0" "800" "0" "c.795_800del" "r.(?)" "p.(Trp266_Phe267del)" "6" "0000699098" "00024240" "97" "799" "0" "799" "0" "c.799T>A" "r.(?)" "p.(Phe267Ile)" "6" "0000699099" "00024240" "99" "0" "0" "0" "0" "c.-381_*211{0}" "r.0" "p.0" "_1_8_" "0000699100" "00024240" "99" "0" "0" "0" "0" "c.-381_*211{0}" "r.0" "p.0" "_1_8_" "0000699101" "00024240" "99" "0" "0" "0" "0" "c.-381_*211{0}" "r.0" "p.0" "_1_8_" "0000699102" "00024240" "99" "0" "0" "0" "0" "c.-381_*211{0}" "r.0" "p.0" "_1_8_" "0000699103" "00024240" "99" "0" "0" "0" "0" "c.-381_*211{0}" "r.0" "p.0" "_1_8_" "0000699104" "00024240" "99" "0" "0" "0" "0" "c.-381_*211{0}" "r.0" "p.0" "_1_8_" "0000699105" "00024240" "99" "0" "0" "0" "0" "c.-381_*211{0}" "r.0" "p.0" "_1_8_" "0000699106" "00024240" "99" "0" "0" "0" "0" "c.1-?_?" "r.0?" "p.0?" "1" "0000699107" "00024240" "99" "0" "0" "0" "0" "c.(586+1_587-1_*211{0}" "r.?" "p.?" "4i_8_" "0000699108" "00024240" "99" "452" "-2" "452" "-2" "c.452-2A>G" "r.spl" "p.?" "3i" "0000699109" "00024240" "77" "175" "0" "175" "0" "c.175A>T" "r.(?)" "p.(Ile59Phe)" "2" "0000699110" "00024240" "99" "0" "0" "0" "0" "c.-381_*211{0}" "r.0" "p.0" "_1_8_" "0000699111" "00024240" "77" "788" "0" "788" "0" "c.788T>G" "r.(?)" "p.(Val263Gly)" "5" "0000699112" "00024240" "99" "111" "0" "111" "0" "c.111dup" "r.(?)" "p.(Val38Argfs*76)" "2" "0000699113" "00024240" "77" "143" "0" "143" "0" "c.143G>A" "r.(?)" "p.(Gly48Asp)" "2" "0000699114" "00024240" "77" "186" "0" "186" "0" "c.186G>A" "r.(?)" "p.(Met62Ile)" "2" "0000699115" "00024240" "99" "400" "0" "400" "0" "c.400C>T" "r.(?)" "p.(Arg134*)" "3" "0000699116" "00024240" "99" "589" "0" "589" "0" "c.589del" "r.(?)" "p.(Ser197Glnfs*19)" "5" "0000699117" "00024240" "99" "655" "0" "655" "0" "c.655C>T" "r.(?)" "p.(Gln219*)" "5" "0000699118" "00024240" "99" "784" "0" "784" "0" "c.784C>T" "r.(?)" "p.(Arg262*)" "5" "0000699119" "00024240" "99" "793" "-1" "793" "-1" "c.793-1G>T" "r.spl" "p.?" "5i" "0000699120" "00024240" "99" "946" "0" "956" "0" "c.946_956del" "r.(?)" "p.(Ile317Cysfs*89)" "6" "0000699121" "00024240" "99" "955" "0" "955" "0" "c.955C>T" "r.(?)" "p.(Gln319*)" "6" "0000699122" "00024240" "99" "0" "0" "0" "0" "c.-381_*211{0}" "r.0" "p.0" "_1_8_" "0000699123" "00024240" "97" "959" "-1" "1173" "1" "c.(958+1_959-1)_(1173+1_1174-1)del" "r.?" "p.?" "6i_7i" "0000699124" "00024240" "99" "0" "0" "0" "0" "c.(1173+1_1174-1)_*211{0}" "r.?" "p.?" "7i_8_" "0000699125" "00024240" "99" "0" "0" "0" "0" "c.-381_*211{0}" "r.0" "p.0" "_1_8_" "0000699130" "00024240" "50" "818" "0" "818" "0" "c.818G>A" "r.(?)" "p.(Arg273Lys)" "" "0000699131" "00024240" "90" "452" "-2" "452" "-2" "c.452-2A>G" "r.spl" "p.?" "" "0000763565" "00024240" "90" "166" "0" "166" "0" "c.166C>T" "r.(?)" "p.(Arg56Cys)" "" "0000763567" "00024240" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Gln277*)" "" "0000790804" "00024240" "70" "281" "0" "281" "0" "c.281G>T" "r.(?)" "p.(Gly94Val)" "" "0000790807" "00024240" "70" "281" "0" "281" "0" "c.281G>T" "r.(?)" "p.(Gly94Val)" "" "0000790809" "00024240" "70" "281" "0" "281" "0" "c.281G>T" "r.(?)" "p.(Gly94Val)" "" "0000794254" "00024240" "90" "1097" "0" "1097" "0" "c.1097del" "r.(?)" "p.(Tyr366Leufs*15)" "" "0000795502" "00024240" "90" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223*)" "" "0000795503" "00024240" "90" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223*)" "" "0000795504" "00024240" "90" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223*)" "" "0000796585" "00024240" "70" "586" "2" "586" "2" "c.586+2T>A" "r.spl" "p.?" "" "0000796586" "00024240" "70" "586" "2" "586" "2" "c.586+2T>A" "r.spl" "p.?" "" "0000800429" "00024240" "30" "1118" "0" "1118" "0" "c.1118C>T" "r.(?)" "p.(Pro373Leu)" "" "0000846664" "00024240" "90" "452" "-2" "452" "-2" "c.452-2A>G" "r.spl" "p.?" "" "0000849759" "00024240" "90" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223*)" "" "0000849760" "00024240" "30" "586" "57" "586" "57" "c.586+57A>G" "r.(=)" "p.(=)" "" "0000876610" "00024240" "90" "838" "0" "838" "0" "c.838del" "r.(?)" "p.(Ala280Profs*4)" "" "0000876611" "00024240" "70" "214" "0" "214" "0" "c.214A>G" "r.(?)" "p.(Ile72Val)" "" "0000881231" "00024240" "90" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Ter)" "" "0000884952" "00024240" "50" "902" "0" "902" "0" "c.902C>T" "r.(?)" "p.(Thr301Ile)" "" "0000923633" "00024240" "90" "306" "0" "306" "0" "c.306del" "r.(?)" "p.(Gly103Alafs*7)" "" "0000944325" "00024240" "70" "322" "-57" "322" "-8" "c.322-57_322-8del" "r.(321_322ins[322-117_322-58;cuuaaag])" "p.?" "" "0000944373" "00024240" "70" "353" "0" "353" "0" "c.353T>C" "r.(?)" "p.(Ile118Thr)" "" "0000958589" "00024240" "90" "1097" "0" "1097" "0" "c.1097del" "r.(?)" "p.(Tyr366LeufsTer15)" "" "0000975027" "00024240" "50" "1325" "0" "1325" "0" "c.1325T>A" "r.(?)" "p.(Leu442Gln)" "" "0000975028" "00024240" "30" "1174" "-478" "1174" "-478" "c.1174-478A>G" "r.(=)" "p.(=)" "" "0000975029" "00024240" "30" "1118" "0" "1118" "0" "c.1118C>T" "r.(?)" "p.(Pro373Leu)" "" "0000975030" "00024240" "70" "1036" "0" "1036" "0" "c.1036del" "r.(?)" "p.(Ser346Profs*35)" "" "0000975031" "00024240" "30" "792" "6" "792" "6" "c.792+6G>A" "r.(=)" "p.(=)" "" "0000990013" "00024240" "70" "809" "0" "809" "0" "c.809G>A" "r.(?)" "p.(Arg270His)" "6" "0000992565" "00024240" "30" "579" "0" "579" "0" "c.579C>A" "r.(?)" "p.(Ser193Arg)" "" "0000992566" "00024240" "50" "-5466" "0" "-5466" "0" "c.-5466C>T" "r.(?)" "p.(=)" "" "0001013671" "00024240" "50" "561" "0" "561" "0" "c.561C>G" "r.(?)" "p.(Ser187Arg)" "" "0001013672" "00024240" "50" "166" "0" "166" "0" "c.166C>T" "r.(?)" "p.(Arg56Cys)" "" "0001033039" "00024240" "30" "1950" "0" "1950" "0" "c.*510C>T" "r.(=)" "p.(=)" "" "0001033040" "00024240" "50" "1318" "0" "1318" "0" "c.1318G>A" "r.(?)" "p.(Asp440Asn)" "" "0001033041" "00024240" "50" "1115" "0" "1115" "0" "c.1115C>T" "r.(?)" "p.(Pro372Leu)" "" "0001033042" "00024240" "50" "586" "425" "586" "425" "c.586+425C>T" "r.(=)" "p.(=)" "" "0001033043" "00024240" "90" "558" "0" "559" "0" "c.558_559del" "r.(?)" "p.(His186Glnfs*17)" "" "0001033044" "00024240" "50" "301" "0" "301" "0" "c.301A>G" "r.(?)" "p.(Ile101Val)" "" "0001044894" "00024240" "90" "52" "0" "52" "0" "c.52C>T" "r,(?)" "p.(Gln18Ter)" "" "0001044895" "00024240" "90" "587" "-2" "587" "-2" "c.587-2A>G" "r.spl" "p.?" "" "0001046966" "00024240" "70" "267" "0" "267" "0" "c.267G>T" "r.(?)" "p.(Arg89Ser)" "" "0001051097" "00024240" "50" "586" "434" "586" "434" "c.586+434C>T" "r.(=)" "p.(=)" "" "0001051098" "00024240" "50" "561" "0" "561" "0" "c.561C>G" "r.(?)" "p.(Ser187Arg)" "" "0001051099" "00024240" "30" "321" "3" "321" "3" "c.321+3G>A" "r.spl?" "p.?" "" "0001063798" "00024240" "50" "1028" "0" "1028" "0" "c.1028C>T" "r.(?)" "p.(Thr343Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 216 "{{screeningid}}" "{{variantid}}" "0000050533" "0000079513" "0000101038" "0000163485" "0000270574" "0000604346" "0000283343" "0000639085" "0000283345" "0000639087" "0000283346" "0000639088" "0000283351" "0000639093" "0000283352" "0000639094" "0000283357" "0000639099" "0000283358" "0000639100" "0000283359" "0000639101" "0000283362" "0000639104" "0000283363" "0000639105" "0000283367" "0000639109" "0000283368" "0000639110" "0000283370" "0000639112" "0000283371" "0000639113" "0000283373" "0000639115" "0000283374" "0000639116" "0000283375" "0000639117" "0000283376" "0000639118" "0000283380" "0000639122" "0000283383" "0000639125" "0000283385" "0000639127" "0000283387" "0000639129" "0000283389" "0000639131" "0000283392" "0000639134" "0000283395" "0000639137" "0000283396" "0000639138" "0000283397" "0000639139" "0000283398" "0000639140" "0000283405" "0000639147" "0000283406" "0000639148" "0000283410" "0000639152" "0000283414" "0000639156" "0000283415" "0000639157" "0000283417" "0000639159" "0000283418" "0000639160" "0000283426" "0000639168" "0000283428" "0000639170" "0000283432" "0000639174" "0000283433" "0000639175" "0000283434" "0000639176" "0000283438" "0000639180" "0000283439" "0000639181" "0000283440" "0000639182" "0000283441" "0000639183" "0000283447" "0000639189" "0000293783" "0000650472" "0000305920" "0000669608" "0000316791" "0000699108" "0000316804" "0000698983" "0000316805" "0000698984" "0000316806" "0000698985" "0000316807" "0000698986" "0000316808" "0000698987" "0000316809" "0000698988" "0000316810" "0000698989" "0000316811" "0000698990" "0000316812" "0000698991" "0000316813" "0000698992" "0000316814" "0000698993" "0000316815" "0000698994" "0000316816" "0000698995" "0000316817" "0000698996" "0000316818" "0000698997" "0000316819" "0000698998" "0000316820" "0000698999" "0000316821" "0000699000" "0000316822" "0000699001" "0000316823" "0000699002" "0000316824" "0000699003" "0000316825" "0000699004" "0000316826" "0000699005" "0000316827" "0000699006" "0000316828" "0000699007" "0000316829" "0000699008" "0000316830" "0000699009" "0000316831" "0000699010" "0000316832" "0000699011" "0000316833" "0000699012" "0000316834" "0000699013" "0000316835" "0000699014" "0000316836" "0000699015" "0000316837" "0000699016" "0000316837" "0000699017" "0000316838" "0000699018" "0000316839" "0000699019" "0000316840" "0000699020" "0000316841" "0000699021" "0000316842" "0000699022" "0000316843" "0000699023" "0000316844" "0000699024" "0000316845" "0000699025" "0000316846" "0000699026" "0000316847" "0000699027" "0000316848" "0000699028" "0000316849" "0000699029" "0000316850" "0000699030" "0000316851" "0000699031" "0000316852" "0000699032" "0000316853" "0000699033" "0000316854" "0000699034" "0000316855" "0000699035" "0000316856" "0000699036" "0000316857" "0000699037" "0000316858" "0000699038" "0000316859" "0000699039" "0000316860" "0000699040" "0000316861" "0000699041" "0000316862" "0000699042" "0000316863" "0000699043" "0000316864" "0000699044" "0000316865" "0000699045" "0000316866" "0000699046" "0000316867" "0000699047" "0000316868" "0000699048" "0000316869" "0000699049" "0000316870" "0000699050" "0000316871" "0000699051" "0000316872" "0000699052" "0000316873" "0000699053" "0000316874" "0000699054" "0000316876" "0000699056" "0000316877" "0000699057" "0000316878" "0000699058" "0000316879" "0000699059" "0000316880" "0000699060" "0000316881" "0000699061" "0000316882" "0000699062" "0000316883" "0000699063" "0000316884" "0000699064" "0000316885" "0000699065" "0000316885" "0000699130" "0000316886" "0000699066" "0000316887" "0000699067" "0000316888" "0000699068" "0000316889" "0000699069" "0000316890" "0000699070" "0000316891" "0000699071" "0000316892" "0000699072" "0000316893" "0000699073" "0000316894" "0000699074" "0000316895" "0000699075" "0000316896" "0000699076" "0000316897" "0000699077" "0000316898" "0000699078" "0000316899" "0000699079" "0000316900" "0000699080" "0000316901" "0000699081" "0000316902" "0000699082" "0000316903" "0000699083" "0000316904" "0000699084" "0000316905" "0000699085" "0000316906" "0000699086" "0000316907" "0000699087" "0000316908" "0000699088" "0000316909" "0000699089" "0000316910" "0000699090" "0000316911" "0000699091" "0000316912" "0000699092" "0000316913" "0000699093" "0000316914" "0000699094" "0000316915" "0000699095" "0000316916" "0000699096" "0000316917" "0000699097" "0000316918" "0000699098" "0000316919" "0000699099" "0000316920" "0000699100" "0000316921" "0000699101" "0000316922" "0000699102" "0000316923" "0000699103" "0000316924" "0000699104" "0000316925" "0000699105" "0000316926" "0000699106" "0000316927" "0000699107" "0000316929" "0000699109" "0000316930" "0000699110" "0000316931" "0000699111" "0000316932" "0000699112" "0000316933" "0000699113" "0000316934" "0000699114" "0000316935" "0000699115" "0000316936" "0000699116" "0000316937" "0000699117" "0000316938" "0000699118" "0000316939" "0000699119" "0000316940" "0000699120" "0000316941" "0000699121" "0000316942" "0000699122" "0000316943" "0000699123" "0000316944" "0000699124" "0000316945" "0000699125" "0000316950" "0000699131" "0000363131" "0000763565" "0000363132" "0000763567" "0000378132" "0000790804" "0000378135" "0000790807" "0000378137" "0000790809" "0000380993" "0000794254" "0000381926" "0000795502" "0000381927" "0000795503" "0000381928" "0000795504" "0000382745" "0000796585" "0000382746" "0000796586" "0000409491" "0000846664" "0000417094" "0000876610" "0000417095" "0000876611" "0000420872" "0000881231" "0000442966" "0000944325" "0000443014" "0000944373" "0000448788" "0000958589" "0000455038" "0000990013" "0000467125" "0001044894" "0000467126" "0001044895" "0000467711" "0001046966"