### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PHOX2B) # 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}}" "PHOX2B" "paired-like homeobox 2b" "4" "p13" "unknown" "NG_008243.1" "UD_132118312795" "" "http://www.LOVD.nl/PHOX2B" "" "1" "9143" "8929" "603851" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/PHOX2B_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-10-14 19:58:09" "00000" "2025-07-08 13:22:38" ## 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}}" "00016114" "PHOX2B" "paired-like homeobox 2b" "001" "NM_003924.3" "" "NP_003915.2" "" "" "" "-360" "2670" "945" "41750987" "41746099" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00900" "CCHS" "hypoventilation, central, syndrome, congenital, with/without Hirschsprung disease (CCHS1)" "AD" "209880" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00901" "NBLST2" "neuroblastoma, susceptibility to, type 2 (NBLST-2)" "" "613013" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" "05202" "neuroblastoma" "neuroblastoma" "" "" "" "" "" "00006" "2016-11-27 12:33:41" "" "" "05378" "BMD/DMD" "dystrophinopathy (BMD or DMD)" "" "" "" "" "" "00006" "2018-01-13 20:18:25" "00006" "2019-03-26 16:49:54" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PHOX2B" "00900" "PHOX2B" "00901" ## Individuals ## Do not remove or alter this header ## ## Count = 105 "{{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}}" "00000017" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000018" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000022" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00081481" "" "" "" "1" "" "00006" "{PMID:Amiel 2003:12640453}, {DOI:Amiel 2003:10.1038/ng1130}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "" "00081482" "" "" "" "1" "" "00006" "{PMID:Amiel 2003:12640453}, {DOI:Amiel 2003:10.1038/ng1130}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "" "00081487" "" "" "" "1" "" "00006" "{PMID:Amiel 2003:12640453}, {DOI:Amiel 2003:10.1038/ng1130}" "2-generation family, 1 affected" "" "" "France" "" "0" "" "" "" "" "00081488" "" "" "" "1" "" "00006" "{PMID:Amiel 2003:12640453}, {DOI:Amiel 2003:10.1038/ng1130}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "" "00081489" "" "" "" "1" "" "00006" "{PMID:Amiel 2003:12640453}, {DOI:Amiel 2003:10.1038/ng1130}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "" "00081490" "" "" "" "1" "" "00006" "{PMID:Amiel 2003:12640453}, {DOI:Amiel 2003:10.1038/ng1130}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "" "00081491" "" "" "" "1" "" "00006" "{PMID:Amiel 2003:12640453}, {DOI:Amiel 2003:10.1038/ng1130}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "" "00081492" "" "" "" "1" "" "00006" "{PMID:Amiel 2003:12640453}, {DOI:Amiel 2003:10.1038/ng1130}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "" "00081493" "" "" "" "1" "" "00006" "{PMID:Amiel 2003:12640453}, {DOI:Amiel 2003:10.1038/ng1130}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "" "00081494" "" "" "" "1" "" "00006" "{PMID:Amiel 2003:12640453}, {DOI:Amiel 2003:10.1038/ng1130}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "" "00081495" "" "" "" "1" "" "00006" "{PMID:Amiel 2003:12640453}, {DOI:Amiel 2003:10.1038/ng1130}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "" "00081497" "" "" "" "1" "" "00006" "{PMID:Amiel 2003:12640453}, {DOI:Amiel 2003:10.1038/ng1130}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "" "00081498" "" "" "" "1" "" "00006" "{PMID:Amiel 2003:12640453}, {DOI:Amiel 2003:10.1038/ng1130}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "" "00081499" "" "" "" "1" "" "00006" "{PMID:Amiel 2003:12640453}, {DOI:Amiel 2003:10.1038/ng1130}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "" "00081500" "" "" "" "1" "" "00006" "{PMID:Amiel 2003:12640453}, {DOI:Amiel 2003:10.1038/ng1130}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "" "00081502" "" "" "" "1" "" "00006" "{PMID:Amiel 2003:12640453}, {DOI:Amiel 2003:10.1038/ng1130}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "" "00081503" "" "" "" "1" "" "00006" "{PMID:Amiel 2003:12640453}, {DOI:Amiel 2003:10.1038/ng1130}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "" "00081507" "" "" "" "1" "" "00006" "{PMID:Amiel 2003:12640453}, {DOI:Amiel 2003:10.1038/ng1130}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "" "00081508" "" "" "" "1" "" "00006" "{PMID:Amiel 2003:12640453}, {DOI:Amiel 2003:10.1038/ng1130}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "" "00081509" "" "" "" "1" "" "00006" "{PMID:Amiel 2003:12640453}, {DOI:Amiel 2003:10.1038/ng1130}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "" "00081510" "" "" "" "3" "" "00006" "{PMID:Antic 2006:16873766}, {DOI:Antic 2006:10.1164/rccm.200605-607CR}" "2-generation family, 3 affecteds,mother/2 children" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00081511" "" "" "" "1" "" "00006" "{PMID:Antic 2006:16873766}, {DOI:Antic 2006:10.1164/rccm.200605-607CR}" "" "" "" "Australia" "" "0" "" "" "" "" "00081512" "" "" "" "1" "" "00006" "{PMID:Antic 2006:16873766}, {DOI:Antic 2006:10.1164/rccm.200605-607CR}" "" "" "" "Germany" "" "0" "" "" "" "" "00081513" "" "" "" "3" "" "00006" "{PMID:Antic 2006:16873766}, {DOI:Antic 2006:10.1164/rccm.200605-607CR}" "2-generation family, 3 affecteds,mother/2 children" "" "" "United States" "" "0" "" "" "" "" "00081514" "" "" "" "1" "" "00006" "{PMID:Antic 2006:16873766}, {DOI:Antic 2006:10.1164/rccm.200605-607CR}" "" "" "" "United States" "" "0" "" "" "" "" "00081515" "" "" "" "35" "" "00006" "{PMID:Trochet 2005:15657873}, {DOI:Trochet 2005:10.1086/428366}" "analysis 188 CCHS cases" "" "" "" "" "0" "" "" "European" "" "00081516" "" "" "" "44" "" "00006" "{PMID:Trochet 2005:15657873}, {DOI:Trochet 2005:10.1086/428366}" "analysis 188 CCHS cases" "" "" "" "" "0" "" "" "European" "" "00081517" "" "" "" "60" "" "00006" "{PMID:Trochet 2005:15657873}, {DOI:Trochet 2005:10.1086/428366}" "analysis 188 CCHS cases" "" "" "" "" "0" "" "" "European" "" "00081518" "" "" "" "5" "" "00006" "{PMID:Trochet 2005:15657873}, {DOI:Trochet 2005:10.1086/428366}" "analysis 188 CCHS cases" "" "" "" "" "0" "" "" "European" "" "00081519" "" "" "" "4" "" "00006" "{PMID:Trochet 2005:15657873}, {DOI:Trochet 2005:10.1086/428366}" "analysis 188 CCHS cases" "" "" "" "" "0" "" "" "European" "" "00081520" "" "" "" "3" "" "00006" "{PMID:Trochet 2005:15657873}, {DOI:Trochet 2005:10.1086/428366}" "analysis 188 CCHS cases" "" "" "" "" "0" "" "" "European" "" "00081521" "" "" "" "2" "" "00006" "{PMID:Trochet 2005:15657873}, {DOI:Trochet 2005:10.1086/428366}" "analysis 188 CCHS cases" "" "" "" "" "0" "" "" "European" "" "00081522" "" "" "" "2" "" "00006" "{PMID:Trochet 2005:15657873}, {DOI:Trochet 2005:10.1086/428366}" "analysis 188 CCHS cases" "" "" "" "" "0" "" "" "European" "" "00081523" "" "" "" "6" "" "00006" "{PMID:Trochet 2005:15657873}, {DOI:Trochet 2005:10.1086/428366}" "analysis 188 CCHS cases" "" "" "" "" "0" "" "" "European" "" "00081524" "" "" "" "3" "" "00006" "{PMID:Trochet 2005:15657873}, {DOI:Trochet 2005:10.1086/428366}" "analysis 188 CCHS cases" "" "" "" "" "0" "" "" "European" "" "00081525" "" "" "" "1" "" "00006" "{PMID:Trochet 2005:15657873}, {DOI:Trochet 2005:10.1086/428366}" "analysis 188 CCHS cases" "" "" "" "" "0" "" "" "European" "" "00081526" "" "" "" "1" "" "00006" "{PMID:Trochet 2005:15657873}, {DOI:Trochet 2005:10.1086/428366}" "analysis 188 CCHS cases" "" "" "" "" "0" "" "" "European" "" "00081527" "" "" "" "3" "" "00006" "{PMID:Trochet 2005:15657873}, {DOI:Trochet 2005:10.1086/428366}" "analysis 188 CCHS cases" "" "" "" "" "0" "" "" "European" "" "00081528" "" "" "" "1" "" "00006" "{PMID:Trochet 2005:15657873}, {DOI:Trochet 2005:10.1086/428366}" "analysis 188 CCHS cases" "" "" "" "" "0" "" "" "European" "" "00081529" "" "" "" "35" "" "00006" "{PMID:Trochet 2005:15657873}, {DOI:Trochet 2005:10.1086/428366}" "analysis 188 CCHS cases" "" "" "" "" "0" "" "" "European" "" "00081530" "" "" "" "44" "" "00006" "{PMID:Trochet 2005:15657873}, {DOI:Trochet 2005:10.1086/428366}" "analysis 188 CCHS cases" "" "" "" "" "0" "" "" "European" "" "00081531" "" "" "" "60" "" "00006" "{PMID:Trochet 2005:15657873}, {DOI:Trochet 2005:10.1086/428366}" "analysis 188 CCHS cases" "" "" "" "" "0" "" "" "European" "" "00081532" "" "" "" "5" "" "00006" "{PMID:Trochet 2005:15657873}, {DOI:Trochet 2005:10.1086/428366}" "analysis 188 CCHS cases" "" "" "" "" "0" "" "" "European" "" "00081533" "" "" "" "4" "" "00006" "{PMID:Trochet 2005:15657873}, {DOI:Trochet 2005:10.1086/428366}" "analysis 188 CCHS cases" "" "" "" "" "0" "" "" "European" "" "00081534" "" "" "" "3" "" "00006" "{PMID:Trochet 2005:15657873}, {DOI:Trochet 2005:10.1086/428366}" "analysis 188 CCHS cases" "" "" "" "" "0" "" "" "European" "" "00081535" "" "" "" "2" "" "00006" "{PMID:Trochet 2005:15657873}, {DOI:Trochet 2005:10.1086/428366}" "analysis 188 CCHS cases" "" "" "" "" "0" "" "" "European" "" "00081536" "" "" "" "2" "" "00006" "{PMID:Trochet 2005:15657873}, {DOI:Trochet 2005:10.1086/428366}" "analysis 188 CCHS cases" "" "" "" "" "0" "" "" "European" "" "00081537" "" "" "" "12" "" "00006" "{PMID:Arai 2007:17928950}, {DOI:Arai 2007:10.1007/s10038-007-0197-3}" "6 sequences parent couples" "F;M" "" "Japan" "" "0" "" "" "" "" "00081538" "" "" "" "12" "" "00006" "{PMID:Arai 2007:17928950}, {DOI:Arai 2007:10.1007/s10038-007-0197-3}" "6 sequenced parent couples" "F;M" "" "Japan" "" "0" "" "" "" "" "00081539" "" "" "" "3" "" "00006" "{PMID:Arai 2007:17928950}, {DOI:Arai 2007:10.1007/s10038-007-0197-3}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Japan" "" "0" "" "" "" "" "00081540" "" "" "" "1" "" "00006" "{PMID:Arai 2007:17928950}, {DOI:Arai 2007:10.1007/s10038-007-0197-3}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Japan" "" "0" "" "" "" "" "00081541" "" "" "" "1" "" "00006" "{PMID:Arai 2007:17928950}, {DOI:Arai 2007:10.1007/s10038-007-0197-3}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Japan" "" "0" "" "" "" "" "00081542" "" "" "" "3" "" "00006" "{PMID:Arai 2007:17928950}, {DOI:Arai 2007:10.1007/s10038-007-0197-3}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Japan" "" "0" "" "" "" "" "00081543" "" "" "" "1" "" "00006" "{PMID:Arai 2007:17928950}, {DOI:Arai 2007:10.1007/s10038-007-0197-3}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Japan" "" "0" "" "" "" "" "00081544" "" "" "" "35" "" "00006" "{PMID:Arai 2007:17928950}, {DOI:Arai 2007:10.1007/s10038-007-0197-3}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Japan" "" "0" "" "" "" "" "00103996" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-059A" "00131920" "" "" "" "1" "" "02269" "{PMID:Di Lascio 2018:29098737}, {DOI:Di Lascio 2018:10.1002/humu.23365}" "" "F" "no" "Italy" "" "0" "" "" "" "41" "00131937" "" "" "" "1" "" "02269" "{PMID:Matera 2004:15121777}, {PMID:Bachetti 2005:15888479}, {DOI:Bachetti 2005:1.1093/hmg/ddi188}" "unaffected parents" "F" "no" "Italy" "" "0" "" "" "" "021" "00131948" "" "" "" "1" "" "02269" "{PMID:Di Lascio 2018:29098737}, {DOI:Di Lascio 2018:10.1002/humu.23365}" "inheritance not assessed (father not carrying mutation, mother\'s DNA not available)" "F" "" "Germany" "" "0" "" "" "" "075" "00131955" "" "" "" "1" "" "02269" "{PMID:Di Lascio 2018:29098737}, {DOI:Di Lascio 2018:10.1002/humu.23365}" "parents\'s DNA not available for inheritance study" "M" "?" "Germany" "" "0" "" "" "" "085" "00131960" "" "" "" "1" "" "02269" "{PMID:Di Lascio 2018:29098737}, {DOI:Di Lascio 2018:10.1002/humu.23365}" "de novo variant, associated with Hirschsprung disease" "F" "?" "Italy" "" "0" "" "" "" "92" "00132026" "" "" "" "1" "" "02269" "{PMID:Di Lascio 2018:29098737}, {DOI:Di Lascio 2018:10.1002/humu.23365}" "" "F" "?" "Germany" "" "0" "" "" "" "215" "00132027" "" "" "" "1" "" "02269" "{PMID:Di Lascio 2018:29098737}, {DOI:Di Lascio 2018:10.1002/humu.23365}" "" "?" "" "" "" "0" "" "" "" "131" "00132028" "" "" "" "1" "" "02269" "{PMID:Di Lascio 2018:29098737}, {DOI:Di Lascio 2018:10.1002/humu.23365}" "" "M" "?" "" "" "0" "" "" "" "299" "00132030" "" "" "" "1" "" "02269" "{PMID:Di Lascio 2018:29098737}, {DOI:Di Lascio 2018:10.1002/humu.23365}" "" "M" "" "Italy" "" "0" "" "" "" "259" "00132031" "" "" "" "1" "" "02269" "{PMID:Di Lascio 2018:29098737}, {DOI:Di Lascio 2018:10.1002/humu.23365}" "" "?" "" "" "" "0" "" "" "" "132" "00132093" "" "" "" "1" "" "02269" "{PMID:Matera 2004:15121777}" "" "" "" "Italy" "" "0" "" "ventilation during sleep" "" "Pat01" "00132094" "" "" "" "1" "" "02269" "{PMID:Matera 2004:15121777}" "" "" "" "Italy" "" "0" "" "ventilation during sleep" "" "Pat02" "00132095" "" "" "" "1" "" "02269" "{PMID:Matera 2004:15121777}" "" "" "" "Italy" "" "0" "" "ventilation during sleep" "" "Pat03" "00132096" "" "" "" "1" "" "02269" "{PMID:Matera 2004:15121777}" "" "" "" "Italy" "" "0" "" "ventilation during sleep" "" "Pat04" "00132097" "" "" "" "1" "" "02269" "{PMID:Matera 2004:15121777}" "" "" "" "Italy" "" "0" "" "ventilation during sleep" "" "Pat05" "00132098" "" "" "" "1" "" "02269" "{PMID:Matera 2004:15121777}" "" "" "" "Italy" "" "0" "" "ventilation during sleep" "" "Pat06" "00132099" "" "" "" "1" "" "02269" "{PMID:Matera 2004:15121777}" "" "" "" "Italy" "" "0" "" "ventilation during sleep" "" "Pat07" "00132100" "" "" "" "1" "" "02269" "{PMID:Matera 2004:15121777}" "" "" "" "Italy" "" "0" "" "ventilation during sleep" "" "Pat08" "00132101" "" "" "" "1" "" "02269" "{PMID:Matera 2004:15121777}" "" "" "" "Italy" "" "0" "" "ventilation during sleep" "" "Pat09" "00132102" "" "" "" "1" "" "02269" "{PMID:Matera 2004:15121777}" "" "" "" "Italy" "" "0" "" "ventilation 24h" "" "Pat10" "00132103" "" "" "" "1" "" "02269" "{PMID:Matera 2004:15121777}" "" "" "" "Germany" "" "0" "" "ventilation during sleep" "" "Pat11" "00132104" "" "" "" "1" "" "02269" "{PMID:Matera 2004:15121777}" "" "" "" "Germany" "" "0" "" "ventilation during sleep" "" "Pat12" "00132105" "" "" "" "1" "" "02269" "{PMID:Matera 2004:15121777}" "" "" "" "Germany" "" "0" "" "ventilation 24h" "" "Pat13" "00132106" "" "" "" "1" "" "02269" "{PMID:Matera 2004:15121777}" "" "" "" "Germany" "" "0" "" "ventilation 24h" "" "Pat14" "00132107" "" "" "" "1" "" "02269" "{PMID:Matera 2004:15121777}" "" "" "" "Italy" "" "0" "" "ventilation during sleep" "" "Pat15" "00132108" "" "" "" "1" "" "02269" "{PMID:Matera 2004:15121777}" "" "" "" "Italy" "" "0" "" "ventilation during sleep" "" "Pat16" "00132110" "" "" "" "1" "" "02269" "{PMID:Matera 2004:15121777}" "" "" "" "Italy" "" "0" "" "ventilation during sleep" "" "Pat18" "00132111" "" "" "" "1" "" "02269" "{PMID:Matera 2004:15121777}" "" "" "" "Italy" "" "0" "" "ventilation during sleep" "" "Pat19" "00132112" "" "" "" "1" "" "02269" "{PMID:Matera 2004:15121777}" "" "" "" "Italy" "" "0" "" "ventilation during sleep" "" "Pat20" "00132113" "" "" "" "1" "" "02269" "{PMID:Matera 2004:15121777}" "" "" "" "Germany" "" "0" "" "ventilation during sleep" "" "Pat22" "00132114" "" "" "" "1" "" "02269" "{PMID:Matera 2004:15121777}" "" "" "" "Italy" "" "0" "" "ventilation during sleep" "" "Pat23" "00132115" "" "" "" "1" "" "02269" "{PMID:Matera 2004:15121777}" "" "M" "?" "Italy" "00y04m" "0" "" "ventilation 24h" "" "Pat24" "00132116" "" "" "" "4" "" "02269" "{PMID:Matera 2004:15121777}" "variant inherited from mother, affected brother/sister carry same variant" "M" "" "Netherlands" "" "0" "" "ventilation during sleep" "" "Pat27" "00132117" "" "" "" "1" "" "02269" "{PMID:Matera 2004:15121777}" "" "" "" "Italy" "" "0" "" "ventilation during sleep" "" "Pat28" "00155708" "" "" "" "1" "" "00006" "{PMID:Van Limpt 2004:15516980}" "" "M" "" "Netherlands" "" "0" "" "" "" "15516980-N97" "00155709" "" "" "" "1" "" "00006" "{PMID:Van Limpt 2004:15516980}" "" "M" "" "Netherlands" "" "0" "" "" "" "15516980-N532" "00155710" "" "" "" "1" "" "00006" "{PMID:Van Limpt 2004:15516980}" "" "" "" "Netherlands" "" "0" "" "" "" "15516980-N571" "00155711" "" "" "" "1" "" "00006" "{PMID:Van Limpt 2004:15516980}" "" "" "" "Netherlands" "" "0" "" "" "" "15516980-N511" "00155712" "" "" "" "1" "" "00006" "{PMID:Van Limpt 2004:15516980}" "" "" "" "Netherlands" "01y03m" "0" "" "" "" "15516980-N129" "00155713" "" "" "" "1" "" "00006" "{PMID:Van Limpt 2004:15516980}" "" "" "" "Netherlands" "" "0" "" "" "" "15516980-SK-N-SH" "00164716" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00324923" "" "" "" "1" "" "02269" "" "" "F" "" "Italy" "" "0" "" "" "" "SIDS 13" "00324926" "" "" "" "1" "" "02269" "" "" "M" "" "Italy" "" "" "" "" "" "SIDS 14" "00324927" "" "" "" "1" "" "02269" "" "" "M" "" "Italy" "" "0" "" "" "" "ALTE-010" "00324928" "" "" "" "1" "" "02269" "" "" "F" "" "Italy" "" "" "" "" "" "" "00416615" "" "" "" "1" "" "04120" "" "" "F" "no" "France" "00y01m" "0" "" "" "African" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 107 "{{individualid}}" "{{diseaseid}}" "00000017" "00138" "00000017" "05378" "00000018" "00138" "00000018" "05378" "00000022" "05378" "00081481" "00900" "00081482" "00900" "00081487" "00900" "00081488" "00900" "00081489" "00900" "00081490" "00900" "00081491" "00900" "00081492" "00900" "00081493" "00900" "00081494" "00900" "00081495" "00900" "00081497" "00900" "00081498" "00900" "00081499" "00900" "00081500" "00900" "00081502" "00900" "00081503" "00900" "00081507" "00900" "00081508" "00900" "00081509" "00900" "00081510" "00900" "00081511" "00900" "00081512" "00900" "00081513" "00900" "00081514" "00900" "00081515" "00900" "00081516" "00900" "00081517" "00900" "00081518" "00900" "00081519" "00900" "00081520" "00900" "00081521" "00900" "00081522" "00900" "00081523" "00900" "00081524" "00900" "00081525" "00900" "00081526" "00900" "00081527" "00900" "00081528" "00900" "00081529" "00900" "00081530" "00900" "00081531" "00900" "00081532" "00900" "00081533" "00900" "00081534" "00900" "00081535" "00900" "00081536" "00900" "00081537" "00000" "00081538" "00000" "00081539" "00900" "00081540" "00900" "00081541" "00900" "00081542" "00900" "00081543" "00900" "00081544" "00900" "00103996" "03381" "00131920" "00900" "00131937" "00900" "00131948" "00900" "00131955" "00900" "00131960" "00900" "00132026" "00900" "00132027" "00900" "00132028" "00900" "00132030" "00900" "00132031" "00900" "00132093" "00900" "00132094" "00900" "00132095" "00900" "00132096" "00900" "00132097" "00900" "00132098" "00900" "00132099" "00900" "00132100" "00900" "00132101" "00900" "00132102" "00900" "00132103" "00900" "00132104" "00900" "00132105" "00900" "00132106" "00900" "00132107" "00900" "00132108" "00900" "00132110" "00900" "00132111" "00900" "00132112" "00900" "00132113" "00900" "00132114" "00900" "00132115" "00900" "00132116" "00900" "00132117" "00900" "00155708" "05202" "00155709" "00900" "00155710" "05202" "00155711" "05202" "00155712" "05202" "00155713" "05202" "00164716" "00198" "00324923" "02087" "00324926" "02087" "00324927" "00198" "00324928" "00198" "00416615" "00900" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00138, 00198, 00900, 00901, 02087, 03381, 05202, 05378 ## Count = 97 "{{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}}" "0000061083" "00900" "00081481" "00006" "Isolated (sporadic)" "" "autonomic nervous system dysfunction (esophageal dysmotility), no Hirschsprung disease (-HP:0002251), no tumour" "" "" "" "" "" "" "" "" "" "" "" "0000061084" "00900" "00081482" "00006" "Isolated (sporadic)" "" "autonomic nervous system dysfunction (decreased heart rate variability, abnormal pupillary reaction to light); no Hirschsprung disease (-HP:0002251); no tumour" "" "" "" "" "" "" "" "" "" "" "" "0000061089" "00900" "00081487" "00006" "Isolated (sporadic)" "" "autonomic nervous system dysfunction (decreased heart rate variability); constipation; no tumour" "" "" "" "" "" "" "" "" "" "" "" "0000061090" "00900" "00081488" "00006" "Isolated (sporadic)" "" "autonomic nervous system dysfunction (esophageal dysmotility, decreased heart rate variability, abnormal pupillary reaction to light); Hirschsprung disease (HP:0002251); no tumour" "" "" "" "" "" "" "" "" "" "" "" "0000061091" "00900" "00081489" "00006" "Isolated (sporadic)" "" "autonomic nervous system dysfunction (decreased heart rate variability, abnormal pupillary reaction to light); no Hirschsprung disease (-HP:0002251); no tumour" "" "" "" "" "" "" "" "" "" "" "" "0000061092" "00900" "00081490" "00006" "Isolated (sporadic)" "" "no Hirschsprung disease (-HP:0002251); no tumour" "" "" "" "" "" "" "" "" "" "" "" "0000061093" "00900" "00081491" "00006" "Isolated (sporadic)" "" "autonomic nervous system dysfunction (decreased heart rate variability, abnormal pupillary reaction to light); no Hirschsprung disease (-HP:0002251); no tumour" "" "" "" "" "" "" "" "" "" "" "" "0000061094" "00900" "00081492" "00006" "Isolated (sporadic)" "" "autonomic nervous system dysfunction (decreased heart rate variability, abnormal pupillary reaction to light); no Hirschsprung disease (-HP:0002251); no tumour" "" "" "" "" "" "" "" "" "" "" "" "0000061095" "00900" "00081493" "00006" "Isolated (sporadic)" "" "autonomic nervous system dysfunction (decreased heart rate variability, abnormal pupillary reaction to light); no Hirschsprung disease (-HP:0002251); no tumour" "" "" "" "" "" "" "" "" "" "" "" "0000061096" "00900" "00081494" "00006" "Isolated (sporadic)" "" "autonomic nervous system dysfunction (decreased heart rate variability, abnormal pupillary reaction to light); no Hirschsprung disease (-HP:0002251); no tumour" "" "" "" "" "" "" "" "" "" "" "" "0000061097" "00900" "00081495" "00006" "Isolated (sporadic)" "" "autonomic nervous system dysfunction (decreased heart rate variability, abnormal pupillary reaction to light); no Hirschsprung disease (-HP:0002251); no tumour" "" "" "" "" "" "" "" "" "" "" "" "0000061099" "00900" "00081497" "00006" "Isolated (sporadic)" "" "autonomic nervous system dysfunction (esophageal dysmotility, decreased heart rate variability, abnormal pupillary reaction to light); no Hirschsprung disease (-HP:0002251); no tumour" "" "" "" "" "" "" "" "" "" "" "" "0000061100" "00900" "00081498" "00006" "Isolated (sporadic)" "" "autonomic nervous system dysfunction (esophageal dysmotility, decreased heart rate variability, abnormal pupillary reaction to light); no Hirschsprung disease (-HP:0002251); no tumour" "" "" "" "" "" "" "" "" "" "" "" "0000061101" "00900" "00081499" "00006" "Isolated (sporadic)" "" "autonomic nervous system dysfunction (decreased heart rate variability, abnormal pupillary reaction to light); Hirschsprung disease (HP:0002251, SS); no tumour" "" "" "" "" "" "" "" "" "" "" "" "0000061102" "00900" "00081500" "00006" "Isolated (sporadic)" "" "constipation; no tumour" "" "" "" "" "" "" "" "" "" "" "" "0000061104" "00900" "00081502" "00006" "Isolated (sporadic)" "" "autonomic nervous system dysfunction (decreased heart rate variability, abnormal pupillary reaction to light); Hirschsprung disease (HP:0002251, LS); no tumour" "" "" "" "" "" "" "" "" "" "" "" "0000061105" "00900" "00081503" "00006" "Isolated (sporadic)" "" "autonomic nervous system dysfunction (decreased heart rate variability); Hirschsprung disease (HP:0002251, LS); no tumour" "" "" "" "" "" "" "" "" "" "" "" "0000061109" "00900" "00081507" "00006" "Isolated (sporadic)" "" "Hirschsprung disease (HP:0002251); no tumour" "" "" "" "" "" "" "" "" "" "" "" "0000061110" "00900" "00081508" "00006" "Isolated (sporadic)" "" "autonomic nervous system dysfunction (abnormal pupillary reaction to light); Hirschsprung disease (HP:0002251); tumour" "" "" "" "" "" "" "" "" "" "" "" "0000061111" "00900" "00081509" "00006" "Isolated (sporadic)" "" "Hirschsprung disease (HP:0002251, LS); no tumour" "" "" "" "" "" "" "" "" "" "" "" "0000061112" "00900" "00081510" "00006" "Familial, autosomal dominant" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000061113" "00900" "00081511" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000061114" "00900" "00081512" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000061115" "00900" "00081513" "00006" "Familial, autosomal dominant" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000061116" "00900" "00081514" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000061117" "00900" "00081515" "00006" "Unknown" "" "isolated CCHS (30), LO-CHS (5)" "" "" "" "" "" "" "" "" "" "" "" "0000061118" "00900" "00081516" "00006" "Unknown" "" "isolated CCHS (37),CCHS+HSCR (5), ? (2)" "" "" "" "" "" "" "" "" "" "" "" "0000061119" "00900" "00081517" "00006" "Unknown" "" "isolated CCHS (39),CCHS+HSCR (18), ? (3)" "" "" "" "" "" "" "" "" "" "" "" "0000061120" "00900" "00081518" "00006" "Unknown" "" "isolated CCHS (2),CCHS+HSCR (3)" "" "" "" "" "" "" "" "" "" "" "" "0000061121" "00900" "00081519" "00006" "Unknown" "" "isolated CCHS (2),CCHS+tumour (1), ? (1)" "" "" "" "" "" "" "" "" "" "" "" "0000061122" "00900" "00081520" "00006" "Unknown" "" "isolated CCHS (1), ? (2)" "" "" "" "" "" "" "" "" "" "" "" "0000061123" "00900" "00081521" "00006" "Unknown" "" "CCHS+HSCR (2)" "" "" "" "" "" "" "" "" "" "" "" "0000061124" "00900" "00081522" "00006" "Unknown" "" "CCHS+HSCR (2)" "" "" "" "" "" "" "" "" "" "" "" "0000061125" "00900" "00081523" "00006" "Unknown" "" "isolated CCHS (1), tumour (1), ? (4)" "" "" "" "" "" "" "" "" "" "" "" "0000061126" "00900" "00081524" "00006" "Unknown" "" "CCHS, HSCR (SS), neuroblastoma" "" "" "" "" "" "" "" "" "" "" "" "0000061127" "00900" "00081525" "00006" "Unknown" "" "CCHS, HSCR (LS), no neuroblastoma" "" "" "" "" "" "" "" "" "" "" "" "0000061128" "00900" "00081526" "00006" "Unknown" "" "CCHS, HSCR (LS), no neuroblastoma" "" "" "" "" "" "" "" "" "" "" "" "0000061129" "00900" "00081527" "00006" "Unknown" "" "CCHS, HSCR, neuroblastoma (multiple)" "" "" "" "" "" "" "" "" "" "" "" "0000061130" "00900" "00081528" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061131" "00900" "00081529" "00006" "Unknown" "" "CCHS, HSCR (TCA), neuroblastoma (multiple)" "" "" "" "" "" "" "" "" "" "" "" "0000061132" "00900" "00081530" "00006" "Unknown" "" "CCHS, no HSCR (SS)" "" "" "" "" "" "" "" "" "" "" "" "0000061133" "00900" "00081531" "00006" "Unknown" "" "CCHS, HSCR (TCA), no neuroblastoma" "" "" "" "" "" "" "" "" "" "" "" "0000061134" "00900" "00081532" "00006" "Unknown" "" "CCHS, HSCR, neuroblastoma" "" "" "" "" "" "" "" "" "" "" "" "0000061135" "00900" "00081533" "00006" "Unknown" "" "CCHS, HSCR (LS), no neuroblastoma" "" "" "" "" "" "" "" "" "" "" "" "0000061136" "00900" "00081534" "00006" "Unknown" "" "CCHS, HSCR, neuroblastoma (multiple)" "" "" "" "" "" "" "" "" "" "" "" "0000061137" "00900" "00081535" "00006" "Unknown" "" "CCHS, HSCR (TCA), neuroblastoma (ganglioneuroblastoma)" "" "" "" "" "" "" "" "" "" "" "" "0000061138" "00900" "00081536" "00006" "Unknown" "" "CCHS, HSCR (SS)" "" "" "" "" "" "" "" "" "" "" "" "0000061139" "00900" "00081539" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061140" "00900" "00081540" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061141" "00900" "00081541" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061142" "00900" "00081542" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061143" "00900" "00081543" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061144" "00900" "00081544" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081930" "03381" "00103996" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "0000104139" "00900" "00131920" "02269" "Isolated (sporadic)" "" "neuroblastoma \r\nHirschsprung disease" "" "00y02m" "" "" "" "" "" "" "" "" "" "0000104155" "00900" "00131937" "02269" "Isolated (sporadic)" "06y" "neuroblastoma\r\nHirschsprung disease" "" "" "" "" "" "" "" "" "" "" "" "0000104166" "00900" "00131948" "02269" "Unknown" "" "CCHS, neuroblastoma" "" "" "" "" "" "" "" "" "" "" "" "0000104173" "00900" "00131955" "02269" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000104179" "00900" "00131960" "02269" "Isolated (sporadic)" "" "Hirshsprung disease" "" "" "" "" "" "" "" "" "" "" "" "0000104242" "00900" "00132026" "02269" "Isolated (sporadic)" "" "no additonal phenotypes" "" "" "" "" "" "" "" "" "" "" "" "0000104243" "00900" "00132027" "02269" "Unknown" "" "Hirschsprung disease" "" "" "" "" "" "" "" "" "" "" "" "0000104244" "00900" "00132028" "02269" "Isolated (sporadic)" "" "no associated phenotypes" "" "" "" "" "" "" "" "" "" "" "" "0000104246" "00900" "00132030" "02269" "Isolated (sporadic)" "" "CCHS, Hirschsprung disease" "" "" "" "" "" "" "" "" "" "" "" "0000104247" "00900" "00132031" "02269" "Unknown" "" "CCHS, Hirschsprung disease" "" "" "" "" "" "" "" "" "" "" "" "0000104286" "00900" "00132093" "02269" "Isolated (sporadic)" "9y" "late onset" "" "" "" "" "" "" "" "" "" "" "" "0000104287" "00900" "00132094" "02269" "Isolated (sporadic)" "12y" "ocular anomalies" "" "" "" "" "" "" "" "" "" "" "" "0000104288" "00900" "00132095" "02269" "Isolated (sporadic)" "17y" "dysrhythmia, loss of consciousness" "" "" "" "" "" "" "" "" "" "" "" "0000104289" "00900" "00132096" "02269" "Familial, autosomal dominant" "" "ocular anomalies, constipation" "" "" "" "" "" "" "" "" "" "" "" "0000104290" "00900" "00132097" "02269" "Isolated (sporadic)" "" "ocular anomalies, decreased heart rate variability" "" "" "" "" "" "" "" "" "" "" "" "0000104291" "00900" "00132098" "02269" "Isolated (sporadic)" "" "ocular anomalies" "" "" "" "" "" "" "" "" "" "" "" "0000104292" "00900" "00132099" "02269" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000104293" "00900" "00132100" "02269" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000104294" "00900" "00132101" "02269" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000104295" "00900" "00132102" "02269" "Isolated (sporadic)" "" "ocular anomalies, growth hormone deficiency, constipation" "" "" "" "" "" "" "" "" "" "" "" "0000104296" "00900" "00132103" "02269" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000104297" "00900" "00132104" "02269" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000104298" "00900" "00132105" "02269" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000104299" "00900" "00132106" "02269" "Isolated (sporadic)" "" "Hirschsprung’s disease" "" "" "" "" "" "" "" "" "" "" "" "0000104300" "00900" "00132107" "02269" "Isolated (sporadic)" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "0000104301" "00900" "00132108" "02269" "Isolated (sporadic)" "" "loss of consciousness, abdominal pain" "" "" "" "" "" "" "" "" "" "" "" "0000104303" "00900" "00132110" "02269" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000104304" "00900" "00132111" "02269" "Isolated (sporadic)" "" "gastroesophageal reflux" "" "" "" "" "" "" "" "" "" "" "" "0000104305" "00900" "00132112" "02269" "Isolated (sporadic)" "" "ocular anomalies, loss of consciousness, altered sweating, dysphagia" "" "" "" "" "" "" "" "" "" "" "" "0000104306" "00900" "00132113" "02269" "Isolated (sporadic)" "" "Hirschsprung’s disease, ocular anomalies, loss of consciousness, dysrhythmia" "" "" "" "" "" "" "" "" "" "" "" "0000104307" "00900" "00132114" "02269" "Isolated (sporadic)" "" "altered perception of pain, constipation" "" "" "" "" "" "" "" "" "" "" "" "0000104308" "00900" "00132115" "02269" "Isolated (sporadic)" "" "Hirschsprung’s disease, ocular anomalies, total colon aganglionosis (TCA)" "" "" "" "" "" "" "" "" "" "" "" "0000104309" "00900" "00132116" "02269" "Isolated (sporadic)" "" "tetralogy of Fallot" "" "" "" "" "" "" "" "" "" "" "" "0000104310" "00900" "00132117" "02269" "Isolated (sporadic)" "" "ocular anomalies" "" "" "" "" "" "" "" "" "" "" "" "0000128091" "05202" "00155708" "00006" "Isolated (sporadic)" "" "" "00y09m" "" "" "" "" "" "" "" "" "neuroblastoma" "" "0000128092" "00900" "00155709" "00006" "Isolated (sporadic)" "02y" "see paper; ..." "00y08m" "" "" "" "" "" "" "" "CCHS" "Haddad syndrome" "" "0000128093" "05202" "00155710" "00006" "Unknown" "" "abdominal stage 3 neuroblastoma" "03y11m" "" "" "" "" "" "" "" "" "neuroblastoma" "" "0000128094" "05202" "00155711" "00006" "Unknown" "05y" "stage 1 abdominal neuroblastoma" "00y10m" "" "" "" "" "" "" "" "" "neuroblastoma" "" "0000128095" "05202" "00155712" "00006" "Unknown" "" "stage 3 neuroblastoma" "00y11m" "" "" "" "" "" "" "" "" "neuroblastoma" "" "0000128096" "05202" "00155713" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neuroblastoma" "" "0000129755" "00198" "00164716" "01807" "Unknown" "" "HP:0003006 (Neuroblastoma)" "" "" "" "" "" "" "" "" "" "" "" "0000243417" "02087" "00324923" "02269" "Unknown" "" "sudden unexplained death syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000308335" "05978" "00416615" "04120" "Unknown" "00y01m" "Severe respiratory distress" "00y01m" "00y01m" "Respiratory insufficiency" "" "" "" "" "" "1m" "1m" "" ## Screenings ## Do not remove or alter this header ## ## Count = 107 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000017" "00000017" "1" "00004" "" "2012-05-11 13:18:40" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000018" "00000018" "1" "00004" "" "2012-05-11 13:18:40" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000022" "00000022" "1" "00004" "" "2012-05-11 13:18:41" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000081611" "00081481" "1" "00006" "00006" "2016-10-16 09:57:30" "" "" "SEQ" "DNA" "" "" "0000081612" "00081482" "1" "00006" "00006" "2016-10-16 10:43:07" "00006" "2016-10-17 08:41:40" "PCR" "DNA" "" "" "0000081617" "00081487" "1" "00006" "00006" "2016-10-16 10:43:07" "" "" "SEQ" "DNA" "" "" "0000081618" "00081488" "1" "00006" "00006" "2016-10-16 10:43:07" "00006" "2016-10-17 08:41:40" "PCR" "DNA" "" "" "0000081619" "00081489" "1" "00006" "00006" "2016-10-16 10:43:07" "00006" "2016-10-17 08:41:40" "PCR" "DNA" "" "" "0000081620" "00081490" "1" "00006" "00006" "2016-10-16 10:43:07" "00006" "2016-10-17 08:41:40" "PCR" "DNA" "" "" "0000081621" "00081491" "1" "00006" "00006" "2016-10-16 10:43:07" "00006" "2016-10-17 08:41:40" "PCR" "DNA" "" "" "0000081622" "00081492" "1" "00006" "00006" "2016-10-16 10:43:07" "00006" "2016-10-17 08:41:40" "PCR" "DNA" "" "" "0000081623" "00081493" "1" "00006" "00006" "2016-10-16 10:43:07" "" "" "SEQ" "DNA" "" "" "0000081624" "00081494" "1" "00006" "00006" "2016-10-16 10:43:07" "" "" "SEQ" "DNA" "" "" "0000081625" "00081495" "1" "00006" "00006" "2016-10-16 10:43:07" "00006" "2016-10-17 08:41:40" "PCR" "DNA" "" "" "0000081627" "00081497" "1" "00006" "00006" "2016-10-16 10:43:07" "" "" "SEQ" "DNA" "" "" "0000081628" "00081498" "1" "00006" "00006" "2016-10-16 10:43:07" "" "" "SEQ" "DNA" "" "" "0000081629" "00081499" "1" "00006" "00006" "2016-10-16 10:43:07" "" "" "SEQ" "DNA" "" "" "0000081630" "00081500" "1" "00006" "00006" "2016-10-16 10:43:07" "00006" "2016-10-17 08:41:40" "PCR" "DNA" "" "" "0000081632" "00081502" "1" "00006" "00006" "2016-10-16 10:43:07" "" "" "SEQ" "DNA" "" "" "0000081633" "00081503" "1" "00006" "00006" "2016-10-16 10:43:07" "" "" "SEQ" "DNA" "" "" "0000081637" "00081507" "1" "00006" "00006" "2016-10-16 10:43:07" "" "" "SEQ" "DNA" "" "" "0000081638" "00081508" "1" "00006" "00006" "2016-10-16 10:43:07" "" "" "SEQ" "DNA" "" "" "0000081639" "00081509" "1" "00006" "00006" "2016-10-16 10:43:07" "" "" "SEQ" "DNA" "" "" "0000081640" "00081510" "1" "00006" "00006" "2016-10-16 12:49:42" "00006" "2016-10-17 08:41:40" "PCR" "DNA" "" "" "0000081641" "00081511" "1" "00006" "00006" "2016-10-16 12:49:42" "00006" "2016-10-17 08:41:40" "PCR" "DNA" "" "" "0000081642" "00081512" "1" "00006" "00006" "2016-10-16 12:49:42" "00006" "2016-10-17 08:41:40" "PCR" "DNA" "" "" "0000081643" "00081513" "1" "00006" "00006" "2016-10-16 12:49:42" "00006" "2016-10-17 08:41:40" "PCR" "DNA" "" "" "0000081644" "00081514" "1" "00006" "00006" "2016-10-16 12:49:42" "00006" "2016-10-17 08:41:40" "PCR" "DNA" "" "" "0000081645" "00081515" "1" "00006" "00006" "2016-10-16 12:49:42" "00006" "2016-10-17 08:41:40" "PCR" "DNA" "" "" "0000081646" "00081516" "1" "00006" "00006" "2016-10-16 12:49:42" "00006" "2016-10-17 08:41:40" "PCR" "DNA" "" "" "0000081647" "00081517" "1" "00006" "00006" "2016-10-16 12:49:42" "00006" "2016-10-17 08:41:40" "PCR" "DNA" "" "" "0000081648" "00081518" "1" "00006" "00006" "2016-10-16 12:49:42" "00006" "2016-10-17 08:41:40" "PCR" "DNA" "" "" "0000081649" "00081519" "1" "00006" "00006" "2016-10-16 12:49:42" "00006" "2016-10-17 08:41:40" "PCR" "DNA" "" "" "0000081650" "00081520" "1" "00006" "00006" "2016-10-16 12:49:42" "00006" "2016-10-17 08:41:40" "PCR" "DNA" "" "" "0000081651" "00081521" "1" "00006" "00006" "2016-10-16 12:49:42" "00006" "2016-10-17 08:41:40" "PCR" "DNA" "" "" "0000081652" "00081522" "1" "00006" "00006" "2016-10-16 12:49:42" "00006" "2016-10-17 08:41:40" "PCR" "DNA" "" "" "0000081653" "00081523" "1" "00006" "00006" "2016-10-16 12:49:42" "00006" "2016-10-17 08:41:40" "PCR" "DNA" "" "" "0000081654" "00081524" "1" "00006" "00006" "2016-10-16 15:41:52" "" "" "SEQ" "DNA" "" "" "0000081655" "00081525" "1" "00006" "00006" "2016-10-16 15:41:52" "" "" "SEQ" "DNA" "" "" "0000081656" "00081526" "1" "00006" "00006" "2016-10-16 15:41:52" "" "" "SEQ" "DNA" "" "" "0000081657" "00081527" "1" "00006" "00006" "2016-10-16 15:41:52" "" "" "SEQ" "DNA" "" "" "0000081658" "00081528" "1" "00006" "00006" "2016-10-16 15:41:52" "" "" "SEQ" "DNA" "" "" "0000081659" "00081529" "1" "00006" "00006" "2016-10-16 15:41:52" "" "" "SEQ" "DNA" "" "" "0000081660" "00081530" "1" "00006" "00006" "2016-10-16 15:41:52" "" "" "SEQ" "DNA" "" "" "0000081661" "00081531" "1" "00006" "00006" "2016-10-16 15:41:52" "" "" "SEQ" "DNA" "" "" "0000081662" "00081532" "1" "00006" "00006" "2016-10-16 15:41:52" "" "" "SEQ" "DNA" "" "" "0000081663" "00081533" "1" "00006" "00006" "2016-10-16 15:41:52" "" "" "SEQ" "DNA" "" "" "0000081664" "00081534" "1" "00006" "00006" "2016-10-16 15:41:52" "" "" "SEQ" "DNA" "" "" "0000081665" "00081535" "1" "00006" "00006" "2016-10-16 15:41:52" "" "" "SEQ" "DNA" "" "" "0000081666" "00081536" "1" "00006" "00006" "2016-10-16 15:41:52" "" "" "SEQ" "DNA" "" "" "0000081667" "00081537" "1" "00006" "00006" "2016-10-16 16:06:55" "" "" "SEQ" "DNA" "" "" "0000081668" "00081538" "1" "00006" "00006" "2016-10-16 16:11:36" "" "" "SEQ" "DNA" "" "" "0000081669" "00081539" "1" "00006" "00006" "2016-10-16 16:58:25" "" "" "SEQ" "DNA" "" "" "0000081670" "00081540" "1" "00006" "00006" "2016-10-16 16:58:25" "" "" "SEQ" "DNA" "" "" "0000081671" "00081541" "1" "00006" "00006" "2016-10-16 16:58:25" "" "" "SEQ" "DNA" "" "" "0000081672" "00081542" "1" "00006" "00006" "2016-10-16 16:58:25" "" "" "SEQ" "DNA" "" "" "0000081673" "00081543" "1" "00006" "00006" "2016-10-16 16:58:25" "" "" "SEQ" "DNA" "" "" "0000081674" "00081544" "1" "00006" "00006" "2016-10-16 16:58:25" "" "" "SEQ" "DNA" "" "" "0000104467" "00103996" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000132763" "00131920" "1" "02269" "02269" "2017-10-02 13:01:39" "02269" "2017-10-03 12:45:42" "SEQ" "DNA" "" "" "0000132777" "00131937" "1" "02269" "02269" "2017-10-03 13:29:05" "" "" "PCR;SEQ" "DNA" "" "" "0000132788" "00131948" "1" "02269" "02269" "2017-10-04 14:33:42" "" "" "SEQ" "DNA" "" "" "0000132795" "00131955" "1" "02269" "02269" "2017-10-05 11:05:52" "" "" "SEQ" "DNA" "" "" "0000132801" "00131960" "1" "02269" "02269" "2017-10-05 11:49:35" "" "" "SEQ" "DNA" "" "" "0000132866" "00132026" "1" "02269" "02269" "2017-10-10 13:33:29" "" "" "SEQ" "DNA" "" "" "0000132867" "00132027" "1" "02269" "02269" "2017-10-10 13:38:01" "" "" "SEQ" "DNA" "" "" "0000132868" "00132028" "1" "02269" "02269" "2017-10-10 13:44:58" "" "" "SEQ" "DNA" "" "" "0000132870" "00132030" "1" "02269" "02269" "2017-10-10 13:55:59" "" "" "SEQ" "DNA" "" "" "0000132872" "00132031" "1" "02269" "02269" "2017-10-10 14:01:25" "" "" "SEQ" "DNA" "" "" "0000132930" "00132093" "1" "02269" "00006" "2017-10-23 19:16:34" "" "" "PCR;SEQ" "DNA" "" "" "0000132931" "00132094" "1" "02269" "00006" "2017-10-23 19:16:34" "" "" "PCR;SEQ" "DNA" "" "" "0000132932" "00132095" "1" "02269" "00006" "2017-10-23 19:16:34" "" "" "PCR;SEQ" "DNA" "" "" "0000132933" "00132096" "1" "02269" "00006" "2017-10-23 19:16:34" "" "" "PCR;SEQ" "DNA" "" "" "0000132934" "00132097" "1" "02269" "00006" "2017-10-23 19:16:34" "" "" "PCR;SEQ" "DNA" "" "" "0000132935" "00132098" "1" "02269" "00006" "2017-10-23 19:16:34" "" "" "PCR;SEQ" "DNA" "" "" "0000132936" "00132099" "1" "02269" "00006" "2017-10-23 19:16:34" "" "" "PCR;SEQ" "DNA" "" "" "0000132937" "00132100" "1" "02269" "00006" "2017-10-23 19:16:34" "" "" "PCR;SEQ" "DNA" "" "" "0000132938" "00132101" "1" "02269" "00006" "2017-10-23 19:16:34" "" "" "PCR;SEQ" "DNA" "" "" "0000132939" "00132102" "1" "02269" "00006" "2017-10-23 19:16:34" "" "" "PCR;SEQ" "DNA" "" "" "0000132940" "00132103" "1" "02269" "00006" "2017-10-23 19:16:34" "" "" "PCR;SEQ" "DNA" "" "" "0000132941" "00132104" "1" "02269" "00006" "2017-10-23 19:16:34" "" "" "PCR;SEQ" "DNA" "" "" "0000132942" "00132105" "1" "02269" "00006" "2017-10-23 19:16:34" "" "" "PCR;SEQ" "DNA" "" "" "0000132943" "00132106" "1" "02269" "00006" "2017-10-23 19:16:34" "" "" "PCR;SEQ" "DNA" "" "" "0000132944" "00132107" "1" "02269" "00006" "2017-10-23 19:16:34" "" "" "PCR;SEQ" "DNA" "" "" "0000132945" "00132108" "1" "02269" "00006" "2017-10-23 19:16:34" "" "" "PCR;SEQ" "DNA" "" "" "0000132947" "00132110" "1" "02269" "00006" "2017-10-23 19:16:34" "" "" "PCR;SEQ" "DNA" "" "" "0000132948" "00132111" "1" "02269" "00006" "2017-10-23 19:16:34" "" "" "PCR;SEQ" "DNA" "" "" "0000132949" "00132112" "1" "02269" "00006" "2017-10-23 19:16:34" "" "" "PCR;SEQ" "DNA" "" "" "0000132950" "00132113" "1" "02269" "00006" "2017-10-23 19:16:34" "" "" "PCR;SEQ" "DNA" "" "" "0000132951" "00132114" "1" "02269" "00006" "2017-10-23 19:16:34" "" "" "PCR;SEQ" "DNA" "" "" "0000132952" "00132115" "1" "02269" "00006" "2017-10-23 19:16:34" "" "" "PCR;SEQ" "DNA" "" "" "0000132953" "00132116" "1" "02269" "00006" "2017-10-23 19:16:34" "" "" "PCR;SEQ" "DNA" "" "" "0000132954" "00132117" "1" "02269" "00006" "2017-10-23 19:16:34" "" "" "PCR;SEQ" "DNA" "" "" "0000156573" "00155708" "1" "00006" "00006" "2018-03-23 19:54:21" "" "" "SEQ" "DNA" "" "" "0000156574" "00155709" "1" "00006" "00006" "2018-03-23 19:58:47" "" "" "SEQ" "DNA" "" "" "0000156575" "00155710" "1" "00006" "00006" "2018-03-23 21:30:55" "" "" "SEQ" "DNA" "" "" "0000156576" "00155711" "1" "00006" "00006" "2018-03-23 21:35:34" "" "" "SEQ" "DNA" "" "" "0000156577" "00155712" "1" "00006" "00006" "2018-03-23 21:41:15" "" "" "SEQ" "DNA" "" "" "0000156578" "00155713" "1" "00006" "00006" "2018-03-23 21:46:52" "" "" "SEQ" "DNA" "" "" "0000165583" "00164716" "1" "01807" "01807" "2018-06-05 19:09:06" "" "" "SEQ" "DNA" "" "" "0000326129" "00324923" "1" "02269" "02269" "2020-12-28 10:30:52" "" "" "SEQ" "DNA" "lymphoblasts" "" "0000326132" "00324926" "1" "02269" "02269" "2020-12-28 10:38:36" "" "" "SEQ" "DNA" "lymphoblasts" "" "0000326133" "00324927" "1" "02269" "02269" "2020-12-28 10:41:04" "" "" "SEQ" "DNA" "lymphoblasts" "" "0000326134" "00324928" "1" "02269" "02269" "2020-12-28 10:45:25" "" "" "SEQ" "DNA" "lymphoblasts" "" "0000326136" "00324927" "1" "02269" "02269" "2020-12-28 11:43:08" "" "" "SEQ" "DNA" "lymphoblasts" "" "0000326137" "00324926" "1" "02269" "02269" "2020-12-28 11:47:28" "" "" "SEQ" "DNA" "lymphoblasts" "" "0000417897" "00416615" "1" "04120" "04120" "2022-09-06 15:32:16" "00006" "2022-09-08 15:56:26" "SEQ-NG" "DNA" "Blood sample" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 139 "{{screeningid}}" "{{geneid}}" "0000000017" "ALG6" "0000000017" "ASPA" "0000000017" "ATP7B" "0000000017" "DPYD" "0000000017" "GLB1" "0000000017" "LAMA2" "0000000017" "MMACHC" "0000000017" "MPL" "0000000017" "MYO5A" "0000000017" "NHLRC1" "0000000017" "NPHS1" "0000000017" "SERPINA1" "0000000017" "SMPD1" "0000000018" "ALG6" "0000000018" "ASPA" "0000000018" "ATP7B" "0000000018" "DPYD" "0000000018" "GLB1" "0000000018" "LAMA2" "0000000018" "MMACHC" "0000000018" "MPL" "0000000018" "MYO5A" "0000000018" "NHLRC1" "0000000018" "NPHS1" "0000000018" "SERPINA1" "0000000018" "SMPD1" "0000000022" "ALPL" "0000000022" "ATP7B" "0000000022" "CBS" "0000000022" "DPYD" "0000000022" "ETFB" "0000000022" "GALC" "0000000022" "GLB1" "0000000022" "NPHS1" "0000000022" "PAH" "0000000022" "SERPINA1" "0000000022" "SLC26A2" "0000081611" "PHOX2B" "0000081612" "PHOX2B" "0000081617" "PHOX2B" "0000081618" "PHOX2B" "0000081619" "PHOX2B" "0000081620" "PHOX2B" "0000081621" "PHOX2B" "0000081622" "PHOX2B" "0000081623" "PHOX2B" "0000081624" "PHOX2B" "0000081625" "PHOX2B" "0000081627" "PHOX2B" "0000081628" "PHOX2B" "0000081629" "PHOX2B" "0000081630" "PHOX2B" "0000081632" "PHOX2B" "0000081633" "PHOX2B" "0000081637" "PHOX2B" "0000081638" "PHOX2B" "0000081639" "PHOX2B" "0000081640" "PHOX2B" "0000081641" "PHOX2B" "0000081642" "PHOX2B" "0000081643" "PHOX2B" "0000081644" "PHOX2B" "0000081645" "PHOX2B" "0000081646" "PHOX2B" "0000081647" "PHOX2B" "0000081648" "PHOX2B" "0000081649" "PHOX2B" "0000081650" "PHOX2B" "0000081651" "PHOX2B" "0000081652" "PHOX2B" "0000081653" "PHOX2B" "0000081654" "PHOX2B" "0000081655" "PHOX2B" "0000081656" "PHOX2B" "0000081657" "PHOX2B" "0000081658" "PHOX2B" "0000081659" "PHOX2B" "0000081660" "PHOX2B" "0000081661" "PHOX2B" "0000081662" "PHOX2B" "0000081663" "PHOX2B" "0000081664" "PHOX2B" "0000081665" "PHOX2B" "0000081666" "PHOX2B" "0000081667" "PHOX2B" "0000081668" "PHOX2B" "0000081669" "PHOX2B" "0000081670" "PHOX2B" "0000081671" "PHOX2B" "0000081672" "PHOX2B" "0000081673" "PHOX2B" "0000081674" "PHOX2B" "0000132763" "PHOX2B" "0000132777" "PHOX2B" "0000132788" "PHOX2B" "0000132795" "PHOX2B" "0000132801" "PHOX2B" "0000132866" "PHOX2B" "0000132867" "PHOX2B" "0000132868" "PHOX2B" "0000132870" "PHOX2B" "0000132872" "PHOX2B" "0000132930" "PHOX2B" "0000132931" "PHOX2B" "0000132932" "PHOX2B" "0000132933" "PHOX2B" "0000132934" "PHOX2B" "0000132935" "PHOX2B" "0000132936" "PHOX2B" "0000132937" "PHOX2B" "0000132938" "PHOX2B" "0000132939" "PHOX2B" "0000132940" "PHOX2B" "0000132941" "PHOX2B" "0000132942" "PHOX2B" "0000132943" "PHOX2B" "0000132944" "PHOX2B" "0000132945" "PHOX2B" "0000132947" "PHOX2B" "0000132948" "PHOX2B" "0000132949" "PHOX2B" "0000132950" "PHOX2B" "0000132951" "PHOX2B" "0000132952" "PHOX2B" "0000132953" "PHOX2B" "0000132954" "PHOX2B" "0000156573" "PHOX2B" "0000156574" "PHOX2B" "0000156575" "PHOX2B" "0000156576" "PHOX2B" "0000156577" "PHOX2B" "0000156578" "PHOX2B" "0000326129" "PHOX2B" "0000326132" "PHOX2B" "0000326133" "PHOX2B" "0000326134" "PHOX2B" "0000326136" "PHOX2B" "0000326137" "PHOX2B" "0000417897" "PHOX2B" ## 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 = 145 "{{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}}" "0000132284" "0" "90" "4" "41748001" "41748015" "dup" "0" "00006" "PHOX2B_000001" "g.41748001_41748015dup" "" "{PMID:Amiel 2003:12640453}, {DOI:Amiel 2003:10.1038/ng1130}" "" "" "" "Unknown" "-" "" "0" "" "" "g.41745984_41745998dup" "" "pathogenic" "" "0000132285" "0" "90" "4" "41748046" "41748048" "" "0" "00006" "PHOX2B_000003" "g.41747989_41748049NGC[25]" "" "{PMID:Amiel 2003:12640453}, {DOI:Amiel 2003:10.1038/ng1130}" "" "Ala25" "" "De novo" "-" "" "0" "" "" "" "" "pathogenic" "" "0000132286" "0" "90" "4" "41748019" "41748039" "dup" "0" "00006" "PHOX2B_000005" "g.41748019_41748039dup" "" "{PMID:Amiel 2003:12640453}, {DOI:Amiel 2003:10.1038/ng1130}" "" "" "" "Unknown" "" "" "0" "" "" "g.41746002_41746022dup" "" "pathogenic" "" "0000132287" "0" "90" "4" "41748046" "41748048" "" "0" "00006" "PHOX2B_000003" "g.41747989_41748049NGC[25]" "" "{PMID:Amiel 2003:12640453}, {DOI:Amiel 2003:10.1038/ng1130}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000132288" "0" "90" "4" "41748046" "41748048" "" "0" "00006" "PHOX2B_000011" "g.41747989_41748049NGC[26]" "" "{PMID:Amiel 2003:12640453}, {DOI:Amiel 2003:10.1038/ng1130}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000132289" "0" "90" "4" "41748046" "41748048" "" "0" "00006" "PHOX2B_000011" "g.41747989_41748049NGC[26]" "" "{PMID:Amiel 2003:12640453}, {DOI:Amiel 2003:10.1038/ng1130}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000132290" "0" "90" "4" "41748046" "41748048" "" "0" "00006" "PHOX2B_000011" "g.41747989_41748049NGC[26]" "" "{PMID:Amiel 2003:12640453}, {DOI:Amiel 2003:10.1038/ng1130}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000132291" "0" "90" "4" "41748046" "41748048" "" "0" "00006" "PHOX2B_000011" "g.41747989_41748049NGC[26]" "" "{PMID:Amiel 2003:12640453}, {DOI:Amiel 2003:10.1038/ng1130}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000132292" "0" "90" "4" "41748025" "41748042" "dup" "0" "00006" "PHOX2B_000002" "g.41748025_41748042dup" "" "{PMID:Amiel 2003:12640453}, {DOI:Amiel 2003:10.1038/ng1130}" "" "" "" "Unknown" "" "" "0" "" "" "g.41746008_41746025dup" "" "pathogenic" "" "0000132293" "0" "90" "4" "41747992" "41748012" "dup" "0" "00006" "PHOX2B_000008" "g.41747992_41748012dup" "" "{PMID:Amiel 2003:12640453}, {DOI:Amiel 2003:10.1038/ng1130}" "" "" "" "Unknown" "" "" "0" "" "" "g.41745975_41745995dup" "" "pathogenic" "" "0000132294" "0" "90" "4" "41748046" "41748048" "" "0" "00006" "PHOX2B_000003" "g.41747989_41748049NGC[25]" "" "{PMID:Amiel 2003:12640453}, {DOI:Amiel 2003:10.1038/ng1130}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000132295" "0" "90" "4" "41748025" "41748042" "dup" "0" "00006" "PHOX2B_000002" "g.41748025_41748042dup" "" "{PMID:Amiel 2003:12640453}, {DOI:Amiel 2003:10.1038/ng1130}" "" "" "" "De novo" "" "" "0" "" "" "g.41746008_41746025dup" "" "pathogenic" "" "0000132296" "0" "90" "4" "41748001" "41748027" "dup" "0" "00006" "PHOX2B_000010" "g.41748001_41748027dup" "" "{PMID:Amiel 2003:12640453}, {DOI:Amiel 2003:10.1038/ng1130}" "" "" "" "Unknown" "" "" "0" "" "" "g.41745984_41746010dup" "" "pathogenic" "" "0000132297" "0" "90" "4" "41747992" "41748012" "dup" "0" "00006" "PHOX2B_000008" "g.41747992_41748012dup" "" "{PMID:Amiel 2003:12640453}, {DOI:Amiel 2003:10.1038/ng1130}" "" "" "" "Unknown" "" "" "0" "" "" "g.41745975_41745995dup" "" "pathogenic" "" "0000132298" "0" "90" "4" "41748046" "41748048" "" "0" "00006" "PHOX2B_000003" "g.41747989_41748049NGC[25]" "" "{PMID:Amiel 2003:12640453}, {DOI:Amiel 2003:10.1038/ng1130}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000132299" "0" "90" "4" "41747992" "41748012" "dup" "0" "00006" "PHOX2B_000008" "g.41747992_41748012dup" "" "{PMID:Amiel 2003:12640453}, {DOI:Amiel 2003:10.1038/ng1130}" "" "" "" "De novo" "" "" "0" "" "" "g.41745975_41745995dup" "" "pathogenic" "" "0000132300" "0" "90" "4" "41748016" "41748039" "dup" "0" "00006" "PHOX2B_000009" "g.41748016_41748039dup" "" "{PMID:Amiel 2003:12640453}, {DOI:Amiel 2003:10.1038/ng1130}" "" "" "" "Unknown" "" "" "0" "" "" "g.41745999_41746022dup" "" "pathogenic" "" "0000132301" "0" "90" "4" "41748017" "41748054" "del" "0" "00006" "PHOX2B_000006" "g.41748017_41748054del" "" "{PMID:Amiel 2003:12640453}, {DOI:Amiel 2003:10.1038/ng1130}" "" "722-759del38" "" "Unknown" "" "" "0" "" "" "g.41746000_41746037del" "" "pathogenic" "" "0000132302" "0" "90" "4" "41748155" "41748155" "dup" "0" "00006" "PHOX2B_000007" "g.41748155dup" "" "{PMID:Amiel 2003:12640453}, {DOI:Amiel 2003:10.1038/ng1130}" "" "618-619insC" "" "De novo" "" "" "0" "" "" "g.41746138dup" "" "pathogenic" "" "0000132303" "0" "90" "4" "41748007" "41748027" "dup" "0" "00006" "PHOX2B_000004" "g.41748007_41748027dup" "" "{PMID:Amiel 2003:12640453}, {DOI:Amiel 2003:10.1038/ng1130}" "" "" "" "De novo" "" "" "0" "" "" "g.41745990_41746010dup" "" "pathogenic" "" "0000132306" "0" "90" "4" "41748046" "41748048" "" "0" "00006" "PHOX2B_000003" "g.41747989_41748049NGC[25]" "" "{PMID:Antic 2006:16873766}, {DOI:Antic 2006:10.1164/rccm.200605-607CR}" "" "Ala25" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000132307" "0" "90" "4" "41748046" "41748048" "" "0" "00006" "PHOX2B_000003" "g.41747989_41748049NGC[25]" "" "{PMID:Antic 2006:16873766}, {DOI:Antic 2006:10.1164/rccm.200605-607CR}" "" "Ala25" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000132308" "0" "90" "4" "41748046" "41748048" "" "0" "00006" "PHOX2B_000003" "g.41747989_41748049NGC[25]" "" "{PMID:Antic 2006:16873766}, {DOI:Antic 2006:10.1164/rccm.200605-607CR}" "" "Ala25" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000132309" "0" "90" "4" "41748046" "41748048" "" "0" "00006" "PHOX2B_000003" "g.41747989_41748049NGC[25]" "" "{PMID:Antic 2006:16873766}, {DOI:Antic 2006:10.1164/rccm.200605-607CR}" "" "Ala25" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000132310" "0" "90" "4" "41748046" "41748048" "" "0" "00006" "PHOX2B_000003" "g.41747989_41748049NGC[25]" "" "{PMID:Antic 2006:16873766}, {DOI:Antic 2006:10.1164/rccm.200605-607CR}" "" "Ala25" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000132311" "0" "90" "4" "41748046" "41748048" "" "0" "00006" "PHOX2B_000003" "g.41747989_41748049NGC[25]" "35/188 cases" "{PMID:Trochet 2005:15657873}, {DOI:Trochet 2005:10.1086/428366}" "" "Ala25" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000132312" "0" "90" "4" "41748046" "41748048" "" "0" "00006" "PHOX2B_000011" "g.41747989_41748049NGC[26]" "44/188 cases" "{PMID:Trochet 2005:15657873}, {DOI:Trochet 2005:10.1086/428366}" "" "Ala26" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000132313" "0" "90" "4" "41748046" "41748048" "" "0" "00006" "PHOX2B_000012" "g.41747989_41748049NGC[27]" "60/188 cases" "{PMID:Trochet 2005:15657873}, {DOI:Trochet 2005:10.1086/428366}" "" "Ala27" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000132314" "0" "90" "4" "41748046" "41748048" "" "0" "00006" "PHOX2B_000013" "g.41747989_41748049NGC[28]" "5/188 cases" "{PMID:Trochet 2005:15657873}, {DOI:Trochet 2005:10.1086/428366}" "" "Ala28" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000132315" "0" "90" "4" "41748046" "41748048" "" "0" "00006" "PHOX2B_000014" "g.41747989_41748049NGC[29]" "4/188 cases" "{PMID:Trochet 2005:15657873}, {DOI:Trochet 2005:10.1086/428366}" "" "Ala29" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000132316" "0" "90" "4" "41748046" "41748048" "" "0" "00006" "PHOX2B_000015" "g.41747989_41748049NGC[30]" "3/188 cases" "{PMID:Trochet 2005:15657873}, {DOI:Trochet 2005:10.1086/428366}" "" "Ala30" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000132317" "0" "90" "4" "41748046" "41748048" "" "0" "00006" "PHOX2B_000016" "g.41747989_41748049NGC[31]" "2/188 cases" "{PMID:Trochet 2005:15657873}, {DOI:Trochet 2005:10.1086/428366}" "" "Ala31" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000132318" "0" "90" "4" "41748046" "41748048" "" "0" "00006" "PHOX2B_000017" "g.41747989_41748049NGC[32]" "2/188 cases" "{PMID:Trochet 2005:15657873}, {DOI:Trochet 2005:10.1086/428366}" "" "Ala32" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000132319" "0" "90" "4" "41748046" "41748048" "" "0" "00006" "PHOX2B_000018" "g.41747989_41748049NGC[33]" "6/188 cases" "{PMID:Trochet 2005:15657873}, {DOI:Trochet 2005:10.1086/428366}" "" "Ala33" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000132320" "0" "70" "4" "41749373" "41749373" "subst" "0" "00006" "PHOX2B_000019" "g.41749373C>T" "1/188 cases" "{PMID:Trochet 2005:15657873}, {DOI:Trochet 2005:10.1086/428366}" "" "" "" "Germline" "" "" "0" "" "" "g.41747356C>T" "" "likely pathogenic" "" "0000132321" "0" "70" "4" "41749367" "41749367" "subst" "0" "00006" "PHOX2B_000020" "g.41749367T>C" "1/188 cases" "{PMID:Trochet 2005:15657873}, {DOI:Trochet 2005:10.1086/428366}" "" "" "" "Germline" "" "" "0" "" "" "g.41747350T>C" "" "likely pathogenic" "" "0000132322" "0" "90" "4" "41748162" "41748162" "dup" "0" "00006" "PHOX2B_000021" "g.41748162dup" "1/188 cases" "{PMID:Trochet 2005:15657873}, {DOI:Trochet 2005:10.1086/428366}" "" "606–607insA" "" "Germline" "" "" "0" "" "" "g.41746145dup" "" "pathogenic" "" "0000132323" "0" "90" "4" "41748155" "41748155" "dup" "0" "00006" "PHOX2B_000007" "g.41748155dup" "1/188 cases" "{PMID:Trochet 2005:15657873}, {DOI:Trochet 2005:10.1086/428366}" "" "618–619insC" "" "Germline" "" "" "0" "" "" "g.41746138dup" "" "pathogenic" "" "0000132324" "0" "90" "4" "41748081" "41748081" "del" "0" "00006" "PHOX2B_000022" "g.41748081del" "1/188 cases" "{PMID:Trochet 2005:15657873}, {DOI:Trochet 2005:10.1086/428366}" "" "692delG" "" "Germline" "" "" "0" "" "" "g.41746064del" "" "pathogenic" "" "0000132325" "0" "90" "4" "41748070" "41748077" "del" "0" "00006" "PHOX2B_000023" "g.41748070_41748077del" "1/188 cases" "{PMID:Trochet 2005:15657873}, {DOI:Trochet 2005:10.1086/428366}" "" "693–700del8" "" "Germline" "" "" "0" "" "" "g.41746053_41746060del" "" "pathogenic" "" "0000132326" "0" "90" "4" "41748081" "41748088" "dup" "0" "00006" "PHOX2B_000024" "g.41748081_41748088dup" "1/188 cases" "{PMID:Trochet 2005:15657873}, {DOI:Trochet 2005:10.1086/428366}" "" "689–696dup8" "" "Germline" "" "" "0" "" "" "g.41746064_41746071dup" "" "pathogenic" "" "0000132327" "0" "90" "4" "41748020" "41748054" "del" "0" "00006" "PHOX2B_000025" "g.41748020_41748054del" "1/188 cases" "{PMID:Trochet 2005:15657873}, {DOI:Trochet 2005:10.1086/428366}" "" "722del35" "" "Germline" "" "" "0" "" "" "g.41746003_41746037del" "" "pathogenic" "" "0000132328" "0" "90" "4" "41748017" "41748054" "del" "0" "00006" "PHOX2B_000006" "g.41748017_41748054del" "1/188 cases" "{PMID:Trochet 2005:15657873}, {DOI:Trochet 2005:10.1086/428366}" "" "722del38" "" "Germline" "" "" "0" "" "" "g.41746000_41746037del" "" "pathogenic" "" "0000132329" "0" "90" "4" "41748017" "41748054" "del" "0" "00006" "PHOX2B_000006" "g.41748017_41748054del" "1/188 cases" "{PMID:Trochet 2005:15657873}, {DOI:Trochet 2005:10.1086/428366}" "" "722del38" "" "Germline" "" "" "0" "" "" "g.41746000_41746037del" "" "pathogenic" "" "0000132330" "0" "90" "4" "41747836" "41747840" "del" "0" "00006" "PHOX2B_000026" "g.41747836_41747840del" "1/188 cases" "{PMID:Trochet 2005:15657873}, {DOI:Trochet 2005:10.1086/428366}" "" "931del5" "" "Germline" "" "" "0" "" "" "g.41745819_41745823del" "" "pathogenic" "" "0000132331" "0" "90" "4" "41747833" "41747833" "dup" "0" "00006" "PHOX2B_000027" "g.41747833dup" "1/188 cases" "{PMID:Trochet 2005:15657873}, {DOI:Trochet 2005:10.1086/428366}" "" "936insT" "" "Germline" "" "" "0" "" "" "g.41745816dup" "" "pathogenic" "" "0000132332" "0" "90" "4" "41747824" "41747824" "subst" "0" "00006" "PHOX2B_000028" "g.41747824T>G" "1/188 cases" "{PMID:Trochet 2005:15657873}, {DOI:Trochet 2005:10.1086/428366}" "" "" "" "Germline" "" "" "0" "" "" "g.41745807T>G" "" "pathogenic" "" "0000132333" "1" "10" "4" "41748007" "41748007" "subst" "0" "00006" "PHOX2B_000029" "g.41748007T>G" "9/24 chromosomes" "{PMID:Arai 2007:17928950}, {DOI:Arai 2007:10.1007/s10038-007-0197-3}" "" "" "incl. 2 homozygous cases" "Germline" "" "" "0" "" "" "g.41745990T>G" "" "benign" "" "0000132334" "1" "10" "4" "41748001" "41748015" "del" "0.00076055" "00006" "PHOX2B_000030" "g.41748001_41748015del" "2/24 chromosomes" "{PMID:Arai 2007:17928950}, {DOI:Arai 2007:10.1007/s10038-007-0197-3}" "" "" "" "Germline" "" "" "0" "" "" "g.41745984_41745998del" "" "benign" "" "0000132335" "11" "90" "4" "41748019" "41748039" "dup" "0" "00006" "PHOX2B_000005" "g.41748019_41748039dup" "" "{PMID:Arai 2007:17928950}, {DOI:Arai 2007:10.1007/s10038-007-0197-3}" "" "" "" "De novo" "" "" "0" "" "" "g.41746002_41746022dup" "" "pathogenic" "" "0000132336" "11" "90" "4" "41748025" "41748042" "dup" "0" "00006" "PHOX2B_000002" "g.41748025_41748042dup" "" "{PMID:Arai 2007:17928950}, {DOI:Arai 2007:10.1007/s10038-007-0197-3}" "" "" "" "De novo" "" "" "0" "" "" "g.41746008_41746025dup" "" "pathogenic" "" "0000132337" "11" "90" "4" "41748019" "41748039" "dup" "0" "00006" "PHOX2B_000005" "g.41748019_41748039dup" "" "{PMID:Arai 2007:17928950}, {DOI:Arai 2007:10.1007/s10038-007-0197-3}" "" "" "" "De novo" "" "" "0" "" "" "g.41746002_41746022dup" "" "pathogenic" "" "0000132338" "11" "90" "4" "41748019" "41748039" "dup" "0" "00006" "PHOX2B_000005" "g.41748019_41748039dup" "" "{PMID:Arai 2007:17928950}, {DOI:Arai 2007:10.1007/s10038-007-0197-3}" "" "" "" "De novo" "" "" "0" "" "" "g.41746002_41746022dup" "" "pathogenic" "" "0000132339" "11" "90" "4" "41748019" "41748039" "dup" "0" "00006" "PHOX2B_000005" "g.41748019_41748039dup" "" "{PMID:Arai 2007:17928950}, {DOI:Arai 2007:10.1007/s10038-007-0197-3}" "" "" "" "De novo" "" "" "0" "" "" "g.41746002_41746022dup" "" "pathogenic" "" "0000132340" "11" "90" "4" "41748013" "41748027" "dup" "0" "00006" "PHOX2B_000031" "g.41748013_41748027dup" "" "{PMID:Arai 2007:17928950}, {DOI:Arai 2007:10.1007/s10038-007-0197-3}" "" "" "" "De novo" "" "" "0" "" "" "g.41745996_41746010dup" "" "pathogenic" "" "0000132341" "21" "11" "4" "41748001" "41748015" "del" "0.00076055" "00006" "PHOX2B_000030" "g.41748001_41748015del" "" "{PMID:Arai 2007:17928950}, {DOI:Arai 2007:10.1007/s10038-007-0197-3}" "" "" "" "Germline" "" "" "0" "" "" "g.41745984_41745998del" "" "benign" "" "0000132342" "21" "11" "4" "41748001" "41748015" "del" "0.00076055" "00006" "PHOX2B_000030" "g.41748001_41748015del" "" "{PMID:Arai 2007:17928950}, {DOI:Arai 2007:10.1007/s10038-007-0197-3}" "" "" "" "Germline" "" "" "0" "" "" "g.41745984_41745998del" "" "benign" "" "0000132343" "21" "11" "4" "41748007" "41748007" "subst" "0" "00006" "PHOX2B_000029" "g.41748007T>G" "" "{PMID:Arai 2007:17928950}, {DOI:Arai 2007:10.1007/s10038-007-0197-3}" "" "" "" "Germline" "" "" "0" "" "" "g.41745990T>G" "" "benign" "" "0000132344" "11" "11" "4" "41748007" "41748007" "subst" "0" "00006" "PHOX2B_000029" "g.41748007T>G" "" "{PMID:Arai 2007:17928950}, {DOI:Arai 2007:10.1007/s10038-007-0197-3}" "" "" "" "Germline" "" "" "0" "" "" "g.41745990T>G" "" "benign" "" "0000132345" "11" "11" "4" "41748007" "41748007" "subst" "0" "00006" "PHOX2B_000029" "g.41748007T>G" "" "{PMID:Arai 2007:17928950}, {DOI:Arai 2007:10.1007/s10038-007-0197-3}" "" "" "" "Germline" "" "" "0" "" "" "g.41745990T>G" "" "benign" "" "0000132346" "11" "11" "4" "41748007" "41748007" "subst" "0" "00006" "PHOX2B_000029" "g.41748007T>G" "" "{PMID:Arai 2007:17928950}, {DOI:Arai 2007:10.1007/s10038-007-0197-3}" "" "" "" "Germline" "" "" "0" "" "" "g.41745990T>G" "" "benign" "" "0000132347" "11" "11" "4" "41748007" "41748007" "subst" "0" "00006" "PHOX2B_000029" "g.41748007T>G" "" "{PMID:Arai 2007:17928950}, {DOI:Arai 2007:10.1007/s10038-007-0197-3}" "" "" "" "Germline" "" "" "0" "" "" "g.41745990T>G" "" "benign" "" "0000169268" "0" "70" "4" "41748022" "41748036" "del" "0" "00587" "PHOX2B_000032" "g.41748022_41748036del" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_003924.3(PHOX2B):c.741_755del p.(Ala256_Ala260del)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.41746005_41746019del" "" "likely pathogenic" "" "0000221945" "0" "90" "4" "41747839" "41747839" "dup" "0" "02269" "PHOX2B_000033" "g.41747839dup" "" "{PMID:Di Lascio 2018:29098737}, {DOI:Di Lascio 2018:10.1002/humu.23365}" "" "g.41745820_41745821dup" "" "De novo" "" "" "0" "" "" "g.41745822dup" "" "pathogenic" "" "0000221959" "0" "90" "4" "41747907" "41747907" "dup" "0" "02269" "PHOX2B_000035" "g.41747907dup" "" "{PMID:Matera 2004:15121777}, {PMID:Bachetti 2005:15888479}, {DOI:Bachetti 2005:1.1093/hmg/ddi188}" "" "862-866insG" "" "De novo" "" "" "0" "" "" "g.41745890dup" "" "pathogenic" "" "0000221972" "0" "70" "4" "41747947" "41747965" "dup" "0" "02269" "PHOX2B_000036" "g.41747947_41747965dup" "" "{PMID:Di Lascio 2018:29098737}, {DOI:Di Lascio 2018:10.1002/humu.23365}" "" "" "" "Unknown" "" "" "0" "" "" "g.41745930_41745948dup" "" "likely pathogenic" "" "0000221983" "0" "90" "4" "41748250" "41748250" "del" "0" "02269" "PHOX2B_000038" "g.41748250del" "" "{PMID:Di Lascio 2018:29098737}, {DOI:Di Lascio 2018:10.1002/humu.23365}" "" "" "" "Unknown" "" "" "0" "" "" "g.41746233del" "" "pathogenic" "" "0000221985" "0" "90" "4" "41747934" "41747935" "ins" "0" "02269" "PHOX2B_000037" "g.41747934_41747935insT" "" "Bachetti, T ; Ceccherini, I PHOX2B (paired-like homeobox 2b) Atlas Genet Cytogenet Oncol Haematol. 2013;17(11):740-745." "" "" "" "De novo" "" "" "0" "" "" "g.41745917_41745918insT" "" "pathogenic" "" "0000222053" "0" "70" "4" "41750427" "41750427" "del" "0" "02269" "PHOX2B_000044" "g.41750427del" "" "{PMID:Di Lascio 2018:29098737}, {DOI:Di Lascio 2018:10.1002/humu.23365}" "" "" "" "De novo" "" "" "0" "" "" "g.41748410del" "" "likely pathogenic" "" "0000222054" "0" "70" "4" "41748106" "41748106" "dup" "0" "02269" "PHOX2B_000043" "g.41748106dup" "" "{PMID:Di Lascio 2018:29098737}, {DOI:Di Lascio 2018:10.1002/humu.23365}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.41746089dup" "" "likely pathogenic" "" "0000222055" "0" "70" "4" "41748017" "41748054" "del" "0" "02269" "PHOX2B_000006" "g.41748017_41748054del" "" "{PMID:Di Lascio 2018:29098737}, {DOI:Di Lascio 2018:10.1002/humu.23365}" "" "" "" "De novo" "" "" "0" "" "" "g.41746000_41746037del" "" "likely pathogenic" "" "0000222057" "0" "70" "4" "41748017" "41748054" "dup" "0" "02269" "PHOX2B_000045" "g.41748017_41748054dup" "" "{PMID:Di Lascio 2018:29098737}, {DOI:Di Lascio 2018:10.1002/humu.23365}" "" "" "" "Germline" "" "" "0" "" "" "g.41746000_41746037dup" "" "likely pathogenic" "" "0000222058" "0" "90" "4" "41747907" "41747907" "dup" "0" "02269" "PHOX2B_000035" "g.41747907dup" "" "{PMID:Di Lascio 2018:29098737}, {DOI:Di Lascio 2018:10.1002/humu.23365}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41745890dup" "" "pathogenic" "" "0000222119" "0" "90" "4" "41748001" "41748015" "dup" "0" "02269" "PHOX2B_000001" "g.41748001_41748015dup" "" "{PMID:Matera 2004:15121777}" "" "" "" "De novo" "" "" "0" "" "" "g.41745984_41745998dup" "" "pathogenic" "" "0000222120" "0" "90" "4" "41748028" "41748045" "dup" "0" "02269" "PHOX2B_000039" "g.41748028_41748045dup" "" "{PMID:Matera 2004:15121777}" "" "" "" "De novo" "" "" "0" "" "" "g.41746011_41746028dup" "" "pathogenic" "" "0000222121" "0" "90" "4" "41748025" "41748042" "dup" "0" "02269" "PHOX2B_000002" "g.41748025_41748042dup" "" "{PMID:Matera 2004:15121777}" "" "" "" "De novo" "" "" "0" "" "" "g.41746008_41746025dup" "" "pathogenic" "" "0000222122" "1" "90" "4" "41748001" "41748015" "dup" "0" "02269" "PHOX2B_000001" "g.41748001_41748015dup" "" "{PMID:Matera 2004:15121777}" "" "" "" "Germline" "" "" "0" "" "" "g.41745984_41745998dup" "" "pathogenic" "" "0000222123" "0" "90" "4" "41748007" "41748027" "dup" "0" "02269" "PHOX2B_000004" "g.41748007_41748027dup" "" "{PMID:Matera 2004:15121777}" "" "" "" "De novo" "" "" "0" "" "" "g.41745990_41746010dup" "" "pathogenic" "" "0000222124" "0" "90" "4" "41748007" "41748027" "dup" "0" "02269" "PHOX2B_000004" "g.41748007_41748027dup" "" "{PMID:Matera 2004:15121777}" "" "" "" "De novo" "" "" "0" "" "" "g.41745990_41746010dup" "" "pathogenic" "" "0000222125" "0" "90" "4" "41748028" "41748045" "dup" "0" "02269" "PHOX2B_000039" "g.41748028_41748045dup" "" "{PMID:Matera 2004:15121777}" "" "" "" "De novo" "" "" "0" "" "" "g.41746011_41746028dup" "" "pathogenic" "" "0000222126" "0" "90" "4" "41748025" "41748042" "dup" "0" "02269" "PHOX2B_000002" "g.41748025_41748042dup" "" "{PMID:Matera 2004:15121777}" "" "" "" "De novo" "" "" "0" "" "" "g.41746008_41746025dup" "" "pathogenic" "" "0000222127" "0" "90" "4" "41748025" "41748042" "dup" "0" "02269" "PHOX2B_000002" "g.41748025_41748042dup" "" "{PMID:Matera 2004:15121777}" "" "" "" "Germline" "" "" "0" "" "" "g.41746008_41746025dup" "" "pathogenic" "" "0000222128" "0" "90" "4" "41748010" "41748042" "dup" "0" "02269" "PHOX2B_000040" "g.41748010_41748042dup" "" "{PMID:Matera 2004:15121777}" "" "" "" "De novo" "" "" "0" "" "" "g.41745993_41746025dup" "" "pathogenic" "" "0000222129" "1" "90" "4" "41748013" "41748027" "dup" "0" "02269" "PHOX2B_000031" "g.41748013_41748027dup" "" "{PMID:Matera 2004:15121777}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41745996_41746010dup" "" "pathogenic" "" "0000222130" "0" "90" "4" "41748025" "41748042" "dup" "0" "02269" "PHOX2B_000002" "g.41748025_41748042dup" "" "{PMID:Matera 2004:15121777}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41746008_41746025dup" "" "pathogenic" "" "0000222131" "0" "90" "4" "41748007" "41748027" "dup" "0" "02269" "PHOX2B_000004" "g.41748007_41748027dup" "" "{PMID:Matera 2004:15121777}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41745990_41746010dup" "" "pathogenic" "" "0000222132" "0" "90" "4" "41748004" "41748042" "dup" "0" "02269" "PHOX2B_000041" "g.41748004_41748042dup" "" "{PMID:Matera 2004:15121777}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41745987_41746025dup" "" "pathogenic" "" "0000222133" "0" "90" "4" "41748001" "41748015" "dup" "0" "02269" "PHOX2B_000001" "g.41748001_41748015dup" "" "{PMID:Matera 2004:15121777}" "" "" "" "De novo" "" "" "0" "" "" "g.41745984_41745998dup" "" "pathogenic" "" "0000222134" "0" "90" "4" "41748013" "41748027" "dup" "0" "02269" "PHOX2B_000031" "g.41748013_41748027dup" "" "{PMID:Matera 2004:15121777}" "" "" "" "De novo" "" "" "0" "" "" "g.41745996_41746010dup" "" "pathogenic" "" "0000222135" "0" "90" "4" "41748025" "41748042" "dup" "0" "02269" "PHOX2B_000002" "g.41748025_41748042dup" "" "{PMID:Matera 2004:15121777}" "" "" "" "De novo" "" "" "0" "" "" "g.41746008_41746025dup" "" "pathogenic" "" "0000222136" "0" "90" "4" "41748001" "41748015" "dup" "0" "02269" "PHOX2B_000001" "g.41748001_41748015dup" "" "{PMID:Matera 2004:15121777}" "" "" "" "De novo" "" "" "0" "" "" "g.41745984_41745998dup" "" "pathogenic" "" "0000222137" "0" "90" "4" "41748007" "41748027" "dup" "0" "02269" "PHOX2B_000004" "g.41748007_41748027dup" "" "{PMID:Matera 2004:15121777}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41745990_41746010dup" "" "pathogenic" "" "0000222138" "0" "90" "4" "41748007" "41748027" "dup" "0" "02269" "PHOX2B_000004" "g.41748007_41748027dup" "" "{PMID:Matera 2004:15121777}" "" "" "" "De novo" "" "" "0" "" "" "g.41745990_41746010dup" "" "pathogenic" "" "0000222139" "0" "90" "4" "41748001" "41748015" "dup" "0" "02269" "PHOX2B_000001" "g.41748001_41748015dup" "" "{PMID:Matera 2004:15121777}" "" "" "" "De novo" "" "" "0" "" "" "g.41745984_41745998dup" "" "pathogenic" "" "0000222140" "0" "90" "4" "41748017" "41748054" "del" "0" "02269" "PHOX2B_000006" "g.41748017_41748054del" "" "{PMID:Matera 2004:15121777}" "" "" "" "De novo" "" "" "0" "" "" "g.41746000_41746037del" "" "pathogenic" "" "0000222141" "21" "90" "4" "41748155" "41748155" "del" "0" "02269" "PHOX2B_000034" "g.41748155del" "" "{PMID:Matera 2004:15121777}" "" "614-618delC" "" "Germline" "yes" "" "0" "" "" "g.41746138del" "" "pathogenic" "" "0000222142" "0" "90" "4" "41748028" "41748045" "dup" "0" "02269" "PHOX2B_000039" "g.41748028_41748045dup" "" "{PMID:Matera 2004:15121777}" "" "" "" "De novo" "" "" "0" "" "" "g.41746011_41746028dup" "" "pathogenic" "" "0000296945" "0" "10" "4" "41749668" "41749668" "subst" "0" "02325" "PHOX2B_000051" "g.41749668C>T" "" "" "" "PHOX2B(NM_003924.4):c.242-115G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41747651C>T" "" "benign" "" "0000296946" "0" "30" "4" "41748178" "41748178" "subst" "0.000450303" "02325" "PHOX2B_000049" "g.41748178G>C" "" "" "" "PHOX2B(NM_003924.3):c.591C>G (p.G197=), PHOX2B(NM_003924.4):c.591C>G (p.G197=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41746161G>C" "" "likely benign" "" "0000296947" "0" "10" "4" "41748007" "41748007" "subst" "0" "02325" "PHOX2B_000029" "g.41748007T>G" "" "" "" "PHOX2B(NM_003924.4):c.762A>C (p.A254=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41745990T>G" "" "benign" "" "0000298852" "0" "10" "4" "41748217" "41748217" "subst" "0.0084061" "02329" "PHOX2B_000050" "g.41748217G>A" "" "" "" "PHOX2B(NM_003924.3):c.552C>T (p.(Ser184=)), PHOX2B(NM_003924.4):c.552C>T (p.S184=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41746200G>A" "" "benign" "" "0000298853" "0" "30" "4" "41748178" "41748178" "subst" "0.000450303" "02329" "PHOX2B_000049" "g.41748178G>C" "" "" "" "PHOX2B(NM_003924.3):c.591C>G (p.G197=), PHOX2B(NM_003924.4):c.591C>G (p.G197=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41746161G>C" "" "likely benign" "" "0000298854" "0" "30" "4" "41748127" "41748127" "subst" "0.000369937" "02329" "PHOX2B_000048" "g.41748127G>A" "" "" "" "PHOX2B(NM_003924.4):c.642C>T (p.G214=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41746110G>A" "" "likely benign" "" "0000298855" "0" "30" "4" "41748022" "41748036" "del" "0" "02329" "PHOX2B_000032" "g.41748022_41748036del" "" "" "" "PHOX2B(NM_003924.3):c.741_755delCGCGGCAGCGGCGGC (p.A256_A260del), PHOX2B(NM_003924.4):c.741_755delCGCGGCAGCGGCGGC (p.A256_A260del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41746005_41746019del" "" "likely benign" "" "0000298856" "0" "10" "4" "41748001" "41748015" "del" "0.00076055" "02329" "PHOX2B_000030" "g.41748001_41748015del" "" "" "" "PHOX2B(NM_003924.4):c.765_779delGGCAGCGGCGGCAGC (p.A256_A260del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41745984_41745998del" "" "benign" "" "0000298857" "0" "10" "4" "41747899" "41747899" "subst" "0.0231179" "02329" "PHOX2B_000046" "g.41747899G>T" "" "" "" "PHOX2B(NM_003924.4):c.870C>A (p.P290=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41745882G>T" "" "benign" "" "0000305555" "0" "30" "4" "41748178" "41748178" "subst" "0.000450303" "01943" "PHOX2B_000049" "g.41748178G>C" "" "" "" "PHOX2B(NM_003924.3):c.591C>G (p.G197=), PHOX2B(NM_003924.4):c.591C>G (p.G197=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41746161G>C" "" "likely benign" "" "0000305556" "0" "30" "4" "41748022" "41748036" "del" "0" "01943" "PHOX2B_000032" "g.41748022_41748036del" "" "" "" "PHOX2B(NM_003924.3):c.741_755delCGCGGCAGCGGCGGC (p.A256_A260del), PHOX2B(NM_003924.4):c.741_755delCGCGGCAGCGGCGGC (p.A256_A260del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41746005_41746019del" "" "likely benign" "" "0000305557" "0" "30" "4" "41748025" "41748025" "subst" "0" "01943" "PHOX2B_000047" "g.41748025C>G" "" "" "" "PHOX2B(NM_003924.3):c.744G>C (p.A248=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41746008C>G" "" "likely benign" "" "0000359604" "0" "90" "4" "41749504" "41749511" "del" "0" "00006" "PHOX2B_000052" "g.41749504_41749511del" "" "{PMID:Van Limpt 2004:15516980}" "" "284–291del8nt" "" "De novo" "" "" "0" "" "" "g.41747487_41747494del" "" "pathogenic" "" "0000359605" "0" "90" "4" "41748038" "41748054" "dup" "0" "00006" "PHOX2B_000053" "g.41748038_41748054dup" "" "{PMID:Van Limpt 2004:15516980}" "" "" "" "De novo" "" "" "0" "" "" "g.41746021_41746037dup" "" "pathogenic" "" "0000359606" "0" "90" "4" "41748056" "41748068" "dup" "0" "00006" "PHOX2B_000054" "g.41748056_41748068dup" "" "{PMID:Van Limpt 2004:15516980}" "" "" "" "Somatic" "" "" "0" "" "" "g.41746039_41746051dup" "" "pathogenic" "" "0000359607" "0" "90" "4" "41748020" "41748054" "del" "0" "00006" "PHOX2B_000025" "g.41748020_41748054del" "" "{PMID:Van Limpt 2004:15516980}" "" "721_755del" "" "Somatic" "" "" "0" "" "" "g.41746003_41746037del" "" "pathogenic" "" "0000359608" "0" "90" "4" "41748098" "41748135" "del" "0" "00006" "PHOX2B_000055" "g.41748098_41748135del" "" "{PMID:Van Limpt 2004:15516980}" "" "633_670del" "" "Somatic" "" "" "0" "" "" "g.41746081_41746118del" "" "pathogenic" "" "0000359609" "0" "90" "4" "41748035" "41748054" "del" "0" "00006" "PHOX2B_000056" "g.41748035_41748054del" "" "{PMID:Van Limpt 2004:15516980}" "" "" "" "Germline" "" "" "0" "" "" "g.41746018_41746037del" "" "pathogenic" "" "0000369308" "0" "90" "4" "41750523" "41750533" "del" "0" "01807" "PHOX2B_000057" "g.41750523_41750533del" "" "" "" "95_105delACTTCAGTTCC" "" "Unknown" "" "" "0" "" "" "g.41748506_41748516del" "" "pathogenic" "" "0000522579" "0" "30" "4" "41748077" "41748077" "subst" "2.47036E-5" "01943" "PHOX2B_000058" "g.41748077C>T" "" "" "" "PHOX2B(NM_003924.3):c.692G>A (p.G231D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41746060C>T" "" "likely benign" "" "0000522580" "0" "30" "4" "41748118" "41748118" "subst" "9.96532E-6" "02329" "PHOX2B_000059" "g.41748118C>A" "" "" "" "PHOX2B(NM_003924.4):c.651G>T (p.G217=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41746101C>A" "" "likely benign" "" "0000522581" "0" "30" "4" "41748217" "41748217" "subst" "0.0084061" "01804" "PHOX2B_000050" "g.41748217G>A" "" "" "" "PHOX2B(NM_003924.3):c.552C>T (p.(Ser184=)), PHOX2B(NM_003924.4):c.552C>T (p.S184=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41746200G>A" "" "likely benign" "" "0000709404" "0" "10" "4" "41748217" "41748217" "subst" "0.0084061" "02269" "PHOX2B_000050" "g.41748217G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.41746200G>A" "" "likely benign" "" "0000709407" "0" "10" "4" "41748217" "41748217" "subst" "0.0084061" "02269" "PHOX2B_000050" "g.41748217G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.41746200G>A" "" "likely benign" "" "0000709408" "0" "10" "4" "41748217" "41748217" "subst" "0.0084061" "02269" "PHOX2B_000050" "g.41748217G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000709409" "0" "50" "4" "41747995" "41748015" "del" "0" "02269" "PHOX2B_000061" "g.41747995_41748015del" "" "" "" "41745973-41745998del" "" "Unknown" "" "" "0" "" "" "g.41745978_41745998del" "" "VUS" "" "0000709411" "0" "70" "4" "41745646" "41745646" "subst" "0" "02269" "PHOX2B_000060" "g.41745646C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000709412" "0" "70" "4" "41745646" "41745646" "subst" "0" "02269" "PHOX2B_000060" "g.41745646C>T" "" "" "" "*2178G>A" "" "Unknown" "" "" "0" "" "" "g.41743629C>T" "" "VUS" "" "0000801649" "0" "90" "4" "41748013" "41748027" "dup" "0" "02325" "PHOX2B_000031" "g.41748013_41748027dup" "" "" "" "PHOX2B(NM_003924.4):c.753_767dupGGCGGCGGCAGCGGC (p.A256_A260dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000850609" "0" "30" "4" "41748025" "41748042" "del" "0" "02326" "PHOX2B_000063" "g.41748025_41748042del" "" "" "" "PHOX2B(NM_003924.3):c.741_758delCGCGGCAGCGGCGGCGGC (p.A255_A260del), PHOX2B(NM_003924.4):c.741_758delCGCGGCAGCGGCGGCGGC (p.A255_A260del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850610" "0" "50" "4" "41749491" "41749491" "subst" "0" "01943" "PHOX2B_000064" "g.41749491G>A" "" "" "" "PHOX2B(NM_003924.3):c.304C>T (p.R102C), PHOX2B(NM_003924.4):c.304C>T (p.R102C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850611" "0" "90" "4" "41749491" "41749491" "subst" "0" "02325" "PHOX2B_000064" "g.41749491G>A" "" "" "" "PHOX2B(NM_003924.3):c.304C>T (p.R102C), PHOX2B(NM_003924.4):c.304C>T (p.R102C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000859438" "0" "10" "4" "41748019" "41748019" "subst" "0" "02329" "PHOX2B_000062" "g.41748019C>T" "" "" "" "PHOX2B(NM_003924.4):c.750G>A (p.A250=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000859439" "0" "30" "4" "41748025" "41748042" "del" "0" "02325" "PHOX2B_000063" "g.41748025_41748042del" "" "" "" "PHOX2B(NM_003924.3):c.741_758delCGCGGCAGCGGCGGCGGC (p.A255_A260del), PHOX2B(NM_003924.4):c.741_758delCGCGGCAGCGGCGGCGGC (p.A255_A260del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000877632" "0" "90" "4" "41748329" "41748329" "subst" "0" "04120" "PHOX2B_000065" "g.41748329T>C" "" "" "" "g.41748335A>G" "" "Germline" "?" "" "0" "" "" "g.41746312T>C" "" "likely pathogenic (dominant)" "ACMG" "0000886285" "0" "30" "4" "41749402" "41749402" "subst" "2.48104E-5" "02325" "PHOX2B_000066" "g.41749402C>G" "" "" "" "PHOX2B(NM_003924.4):c.393G>C (p.L131=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886286" "0" "50" "4" "41749488" "41749488" "subst" "0" "02325" "PHOX2B_000067" "g.41749488T>G" "" "" "" "PHOX2B(NM_003924.4):c.307A>C (p.T103P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886287" "0" "90" "4" "41750390" "41750391" "del" "0" "02325" "PHOX2B_000068" "g.41750390_41750391del" "" "" "" "PHOX2B(NM_003924.4):c.238_239delGC (p.A80Sfs*97)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000924115" "0" "50" "4" "41750528" "41750528" "subst" "0" "02325" "PHOX2B_000069" "g.41750528T>C" "" "" "" "PHOX2B(NM_003924.4):c.100A>G (p.S34G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976291" "0" "50" "4" "41748001" "41748009" "del" "0" "01804" "PHOX2B_000070" "g.41748001_41748009del" "" "" "" "PHOX2B(NM_003924.4):c.762_770del (p.(Ala258_Ala260del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976292" "0" "30" "4" "41748004" "41748042" "del" "0" "01804" "PHOX2B_000071" "g.41748004_41748042del" "" "" "" "PHOX2B(NM_003924.4):c.738_776del (p.(Ala248_Ala260del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976293" "0" "50" "4" "41748025" "41748045" "del" "0" "01804" "PHOX2B_000072" "g.41748025_41748045del" "" "" "" "PHOX2B(NM_003924.4):c.729_749del (p.(Ala254_Ala260del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994286" "0" "50" "4" "41747904" "41747904" "subst" "1.26067E-5" "01804" "PHOX2B_000073" "g.41747904C>T" "" "" "" "PHOX2B(NM_003924.3):c.865G>A (p.(Gly289Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994287" "0" "50" "4" "41748098" "41748098" "subst" "0" "02325" "PHOX2B_000074" "g.41748098G>T" "" "" "" "PHOX2B(NM_003924.4):c.671C>A (p.P224Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994288" "0" "30" "4" "41748130" "41748130" "subst" "0.000244167" "02329" "PHOX2B_000075" "g.41748130G>C" "" "" "" "PHOX2B(NM_003924.4):c.639C>G (p.G213=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024922" "0" "10" "4" "41748007" "41748007" "subst" "0" "02329" "PHOX2B_000029" "g.41748007T>G" "" "" "" "PHOX2B(NM_003924.4):c.762A>C (p.A254=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001034555" "0" "50" "4" "41747862" "41747862" "subst" "0" "01804" "PHOX2B_000076" "g.41747862C>T" "" "" "" "PHOX2B(NM_003924.4):c.907G>A (p.(Gly303Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045956" "0" "90" "4" "41748321" "41748321" "subst" "0" "02325" "PHOX2B_000077" "g.41748321G>T" "" "" "" "PHOX2B(NM_003924.4):c.448C>A (p.R150S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes PHOX2B ## Count = 145 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Haplotype}}" "0000132284" "00016114" "90" "765" "0" "779" "0" "c.765_779dup" "r.(?)" "p.(Ala256_Ala260dup)" "3" "Ala-25" "0000132285" "00016114" "90" "721" "0" "723" "0" "c.720_780GCN[25]" "r.(?)" "p.(Ala241[25])" "3" "Ala-25" "0000132286" "00016114" "90" "741" "0" "761" "0" "c.741_761dup" "r.(?)" "p.(Ala254_Ala260dup)" "3" "Ala-27" "0000132287" "00016114" "90" "721" "0" "723" "0" "c.720_780GCN[25]" "r.(?)" "p.(Ala241[25])" "3" "Ala-25" "0000132288" "00016114" "90" "721" "0" "723" "0" "c.720_780GCN[26]" "r.(?)" "p.(Ala241[26])" "3" "Ala-26" "0000132289" "00016114" "90" "721" "0" "723" "0" "c.720_780GCN[26]" "r.(?)" "p.(Ala241[26])" "3" "Ala-26" "0000132290" "00016114" "90" "721" "0" "723" "0" "c.720_780GCN[26]" "r.(?)" "p.(Ala241[26])" "3" "Ala-26" "0000132291" "00016114" "90" "721" "0" "723" "0" "c.720_780GCN[26]" "r.(?)" "p.(Ala241[26])" "3" "Ala-26" "0000132292" "00016114" "90" "741" "0" "758" "0" "c.741_758dup" "r.(?)" "p.(Ala255_Ala260dup)" "3" "Ala-26" "0000132293" "00016114" "90" "759" "0" "779" "0" "c.759_779dup" "r.(?)" "p.(Ala254_Ala260dup)" "3" "Ala-27" "0000132294" "00016114" "90" "721" "0" "723" "0" "c.720_780GCN[25]" "r.(?)" "p.(Ala241[26])" "3" "Ala-25" "0000132295" "00016114" "90" "741" "0" "758" "0" "c.741_758dup" "r.(?)" "p.(Ala255_Ala260dup)" "3" "Ala-26" "0000132296" "00016114" "90" "747" "0" "773" "0" "c.747_773dup" "r.(?)" "p.(Ala252_Ala260dup)" "3" "Ala-29" "0000132297" "00016114" "90" "759" "0" "779" "0" "c.759_779dup" "r.(?)" "p.(Ala254_Ala260dup)" "3" "Ala-27" "0000132298" "00016114" "90" "721" "0" "723" "0" "c.720_780GCN[25]" "r.(?)" "p.(Ala241[25])" "3" "Ala-25" "0000132299" "00016114" "90" "759" "0" "779" "0" "c.759_779dup" "r.(?)" "p.(Ala254_Ala260dup)" "3" "Ala-27" "0000132300" "00016114" "90" "738" "0" "761" "0" "c.738_761dup" "r.(?)" "p.(Ala253_Ala260dup)" "3" "Ala-28" "0000132301" "00016114" "90" "722" "0" "759" "0" "c.722_759del" "r.(?)" "p.(Ala241Glyfs*106)" "3" "" "0000132302" "00016114" "90" "618" "0" "618" "0" "c.618dup" "r.(?)" "p.(Ser207Glnfs*153)" "3" "" "0000132303" "00016114" "90" "756" "0" "776" "0" "c.756_776dup" "r.(?)" "p.(Ala254_Ala260dup)" "3" "Ala-27" "0000132306" "00016114" "90" "721" "0" "723" "0" "c.720_780GCN[25]" "r.(?)" "p.(Ala241[25])" "3" "Ala-25" "0000132307" "00016114" "90" "721" "0" "723" "0" "c.720_780GCN[25]" "r.(?)" "p.(Ala241[25])" "3" "Ala-25" "0000132308" "00016114" "90" "721" "0" "723" "0" "c.720_780GCN[25]" "r.(?)" "p.(Ala241[25])" "3" "Ala-25" "0000132309" "00016114" "90" "721" "0" "723" "0" "c.720_780GCN[25]" "r.(?)" "p.(Ala241[25])" "3" "Ala-25" "0000132310" "00016114" "90" "721" "0" "723" "0" "c.720_780GCN[25]" "r.(?)" "p.(Ala241[25])" "3" "Ala-25" "0000132311" "00016114" "90" "721" "0" "723" "0" "c.720_780GCN[25]" "r.(?)" "p.(Ala241[25])" "3" "Ala-25" "0000132312" "00016114" "90" "721" "0" "723" "0" "c.720_780GCN[26]" "r.(?)" "p.(Ala241[26])" "3" "Ala-26" "0000132313" "00016114" "90" "721" "0" "723" "0" "c.720_780GCN[27]" "r.(?)" "p.(Ala241[27])" "3" "Ala-27" "0000132314" "00016114" "90" "721" "0" "723" "0" "c.720_780GCN[28]" "r.(?)" "p.(Ala241[28])" "3" "Ala-28" "0000132315" "00016114" "90" "721" "0" "723" "0" "c.720_780GCN[29]" "r.(?)" "p.(Ala241[29])" "3" "Ala-29" "0000132316" "00016114" "90" "721" "0" "723" "0" "c.720_780GCN[30]" "r.(?)" "p.(Ala241[30])" "3" "Ala-30" "0000132317" "00016114" "90" "721" "0" "723" "0" "c.720_780GCN[31]" "r.(?)" "p.(Ala241[31])" "3" "Ala-31" "0000132318" "00016114" "90" "721" "0" "723" "0" "c.720_780GCN[32]" "r.(?)" "p.(Ala241[32])" "3" "Ala-32" "0000132319" "00016114" "90" "721" "0" "723" "0" "c.720_780GCN[33]" "r.(?)" "p.(Ala241[33])" "3" "Ala-33" "0000132320" "00016114" "70" "422" "0" "422" "0" "c.422G>A" "r.(?)" "p.(Arg141Gln)" "2" "" "0000132321" "00016114" "70" "428" "0" "428" "0" "c.428A>G" "r.(?)" "p.(Gln143Arg)" "3" "" "0000132322" "00016114" "90" "608" "0" "608" "0" "c.608dup" "r.(?)" "p.(Asn203Lysfs*157)" "3" "" "0000132323" "00016114" "90" "618" "0" "618" "0" "c.618dup" "r.(?)" "p.(Ser207Glnfs*153)" "3" "" "0000132324" "00016114" "90" "692" "0" "692" "0" "c.692del" "r.(?)" "p.(Gly231Alafs*78)" "3" "" "0000132325" "00016114" "90" "693" "0" "700" "0" "c.693_700del" "r.(?)" "p.(Pro232Argfs*125)" "3" "" "0000132326" "00016114" "90" "691" "0" "698" "0" "c.691_698dup" "r.(?)" "p.(Gly234Alafs*78)" "3" "" "0000132327" "00016114" "90" "722" "0" "756" "0" "c.722_756del" "r.(?)" "p.(Ala241Glyfs*107)" "3" "" "0000132328" "00016114" "90" "722" "0" "759" "0" "c.722_759del" "r.(?)" "p.(Ala241Glyfs*106)" "3" "" "0000132329" "00016114" "90" "722" "0" "759" "0" "c.722_759del" "r.(?)" "p.(Ala241Glyfs*106)" "3" "" "0000132330" "00016114" "90" "931" "0" "935" "0" "c.931_935del" "r.(?)" "p.(Ser311Tyrfs*47)" "3" "" "0000132331" "00016114" "90" "936" "0" "936" "0" "c.936dup" "r.(?)" "p.(Met313Tyrfs*47)" "3" "" "0000132332" "00016114" "90" "945" "0" "945" "0" "c.945A>C" "r.(?)" "p.(*315Cysext*41)" "3" "" "0000132333" "00016114" "10" "762" "0" "762" "0" "c.762A>C" "r.(=)" "p.(Ala254=)" "3" "" "0000132334" "00016114" "10" "765" "0" "779" "0" "c.765_779del" "r.(?)" "p.(Ala256_Ala260del)" "3" "Ala-15" "0000132335" "00016114" "90" "741" "0" "761" "0" "c.741_761dup" "r.(?)" "p.(Ala254_Ala260dup)" "3" "Ala-27" "0000132336" "00016114" "90" "741" "0" "758" "0" "c.741_758dup" "r.(?)" "p.(Ala255_Ala260dup)" "3" "Ala-26" "0000132337" "00016114" "90" "741" "0" "761" "0" "c.741_761dup" "r.(?)" "p.(Ala254_Ala260dup)" "3" "Ala-27" "0000132338" "00016114" "90" "741" "0" "761" "0" "c.741_761dup" "r.(?)" "p.(Ala254_Ala260dup)" "3" "Ala-27" "0000132339" "00016114" "90" "741" "0" "761" "0" "c.741_761dup" "r.(?)" "p.(Ala254_Ala260dup)" "3" "Ala-27" "0000132340" "00016114" "90" "753" "0" "767" "0" "c.753_767dup" "r.(?)" "p.(Ala256_Ala260dup)" "3" "Ala-25" "0000132341" "00016114" "11" "765" "0" "779" "0" "c.765_779del" "r.(?)" "p.(Ala256_Ala260del)" "3" "Ala-15" "0000132342" "00016114" "11" "765" "0" "779" "0" "c.765_779del" "r.(?)" "p.(Ala256_Ala260del)" "3" "Ala-15" "0000132343" "00016114" "11" "762" "0" "762" "0" "c.762A>C" "r.(?)" "p.(Ala254=)" "3" "Ala-20" "0000132344" "00016114" "11" "762" "0" "762" "0" "c.762A>C" "r.(?)" "p.(Ala254=)" "3" "" "0000132345" "00016114" "11" "762" "0" "762" "0" "c.762A>C" "r.(?)" "p.(Ala254=)" "3" "" "0000132346" "00016114" "11" "762" "0" "762" "0" "c.762A>C" "r.(?)" "p.(Ala254=)" "3" "" "0000132347" "00016114" "11" "762" "0" "762" "0" "c.762A>C" "r.(?)" "p.(Ala254=)" "3" "" "0000169268" "00016114" "00" "741" "0" "755" "0" "c.741_755del" "r.(?)" "p.(Ala256_Ala260del)" "" "" "0000221945" "00016114" "90" "930" "0" "930" "0" "c.930dup" "r.(930dup)" "p.(Ser311Glufs*49)" "3" "" "0000221959" "00016114" "90" "866" "0" "866" "0" "c.866dup" "r.(?)" "p.(Pro290Serfs*70)" "3" "" "0000221972" "00016114" "70" "807" "0" "825" "0" "c.807_825dup" "r.(?)" "p.(Gly276Trpfs*90)" "3" "" "0000221983" "00016114" "90" "519" "0" "519" "0" "c.519del" "r.(?)" "p.(Lys175Serfs*134)" "3" "" "0000221985" "00016114" "90" "834" "0" "835" "0" "c.834_835insA" "r.(?)" "p.(Pro279Thrfs*81)" "3" "" "0000222053" "00016114" "70" "203" "0" "203" "0" "c.203del" "r.(?)" "p.(Gly68Alafs*66)" "1" "" "0000222054" "00016114" "70" "663" "0" "663" "0" "c.663dup" "r.(?)" "p.(Gly222Trpfs*138)" "3" "" "0000222055" "00016114" "70" "722" "0" "759" "0" "c.722_759del" "r.(?)" "p.(Ala241Glyfs*106)" "3" "" "0000222057" "00016114" "70" "722" "0" "759" "0" "c.722_759dup" "r.(?)" "p.(Ala254Glnfs*68)" "3" "" "0000222058" "00016114" "90" "866" "0" "866" "0" "c.866dup" "r.(?)" "p.(Pro290Serfs*70)" "3" "" "0000222119" "00016114" "90" "765" "0" "779" "0" "c.765_779dup" "r.(?)" "p.(Ala256_Ala260dup)" "3" "Ala-25" "0000222120" "00016114" "90" "726" "0" "743" "0" "c.726_743dup" "r.(?)" "p.(Ala255_Ala260dup)" "3" "Ala-26" "0000222121" "00016114" "90" "741" "0" "758" "0" "c.741_758dup" "r.(?)" "p.(Ala255_Ala260dup)" "3" "Ala-26" "0000222122" "00016114" "90" "765" "0" "779" "0" "c.765_779dup" "r.(?)" "p.(Ala256_Ala260dup)" "3" "Ala-25" "0000222123" "00016114" "90" "756" "0" "776" "0" "c.756_776dup" "r.(?)" "p.(Ala254_Ala260dup)" "3" "Ala-27" "0000222124" "00016114" "90" "756" "0" "776" "0" "c.756_776dup" "r.(?)" "p.(Ala254_Ala260dup)" "3" "Ala-27" "0000222125" "00016114" "90" "726" "0" "743" "0" "c.726_743dup" "r.(?)" "p.(Ala255_Ala260dup)" "3" "Ala-26" "0000222126" "00016114" "90" "741" "0" "758" "0" "c.741_758dup" "r.(?)" "p.(Ala255_Ala260dup)" "3" "Ala-26" "0000222127" "00016114" "90" "741" "0" "758" "0" "c.741_758dup" "r.(?)" "p.(Ala255_Ala260dup)" "3" "Ala-26" "0000222128" "00016114" "90" "735" "0" "767" "0" "c.735_767dup" "r.(?)" "p.(Ala250_Ala260dup)" "3" "Ala-31" "0000222129" "00016114" "90" "753" "0" "767" "0" "c.753_767dup" "r.(?)" "p.(Ala256_Ala260dup)" "3" "Ala-25" "0000222130" "00016114" "90" "741" "0" "758" "0" "c.741_758dup" "r.(?)" "p.(Ala255_Ala260dup)" "3" "Ala-26" "0000222131" "00016114" "90" "756" "0" "776" "0" "c.756_776dup" "r.(?)" "p.(Ala254_Ala260dup)" "3" "Ala-27" "0000222132" "00016114" "90" "738" "0" "776" "0" "c.738_776dup" "r.(?)" "p.(Ala248_Ala260dup)" "3" "Ala-33" "0000222133" "00016114" "90" "765" "0" "779" "0" "c.765_779dup" "r.(?)" "p.(Ala256_Ala260dup)" "3" "Ala-25" "0000222134" "00016114" "90" "753" "0" "767" "0" "c.753_767dup" "r.(?)" "p.(Ala256_Ala260dup)" "3" "Ala-25" "0000222135" "00016114" "90" "741" "0" "758" "0" "c.741_758dup" "r.(?)" "p.(Ala255_Ala260dup)" "3" "Ala-26" "0000222136" "00016114" "90" "765" "0" "779" "0" "c.765_779dup" "r.(?)" "p.(Ala256_Ala260dup)" "3" "Ala-25" "0000222137" "00016114" "90" "756" "0" "776" "0" "c.756_776dup" "r.(?)" "p.(Ala254_Ala260dup)" "3" "Ala-27" "0000222138" "00016114" "90" "756" "0" "776" "0" "c.756_776dup" "r.(?)" "p.(Ala254_Ala260dup)" "3" "Ala-27" "0000222139" "00016114" "90" "765" "0" "779" "0" "c.765_779dup" "r.(?)" "p.(Ala256_Ala260dup)" "3" "Ala-25" "0000222140" "00016114" "90" "722" "0" "759" "0" "c.722_759del" "r.(?)" "p.(Ala241Glyfs*106)" "3" "" "0000222141" "00016114" "90" "618" "0" "618" "0" "c.618del" "r.(?)" "p.(Ser207Alafs*102)" "3" "" "0000222142" "00016114" "90" "726" "0" "743" "0" "c.726_743dup" "r.(?)" "p.(Ala255_Ala260dup)" "3" "Ala-26" "0000296945" "00016114" "10" "242" "-115" "242" "-115" "c.242-115G>A" "r.(=)" "p.(=)" "" "" "0000296946" "00016114" "30" "591" "0" "591" "0" "c.591C>G" "r.(?)" "p.(Gly197=)" "" "" "0000296947" "00016114" "10" "762" "0" "762" "0" "c.762A>C" "r.(?)" "p.(Ala254=)" "" "" "0000298852" "00016114" "10" "552" "0" "552" "0" "c.552C>T" "r.(?)" "p.(Ser184=)" "" "" "0000298853" "00016114" "30" "591" "0" "591" "0" "c.591C>G" "r.(?)" "p.(Gly197=)" "" "" "0000298854" "00016114" "30" "642" "0" "642" "0" "c.642C>T" "r.(?)" "p.(Gly214=)" "" "" "0000298855" "00016114" "30" "741" "0" "755" "0" "c.741_755del" "r.(?)" "p.(Ala256_Ala260del)" "" "" "0000298856" "00016114" "10" "765" "0" "779" "0" "c.765_779del" "r.(?)" "p.(Ala256_Ala260del)" "" "" "0000298857" "00016114" "10" "870" "0" "870" "0" "c.870C>A" "r.(?)" "p.(Pro290=)" "" "" "0000305555" "00016114" "30" "591" "0" "591" "0" "c.591C>G" "r.(?)" "p.(Gly197=)" "" "" "0000305556" "00016114" "30" "741" "0" "755" "0" "c.741_755del" "r.(?)" "p.(Ala256_Ala260del)" "" "" "0000305557" "00016114" "30" "744" "0" "744" "0" "c.744G>C" "r.(?)" "p.(Ala248=)" "" "" "0000359604" "00016114" "90" "284" "0" "291" "0" "c.284_291del" "r.(?)" "p.(Lys95Thrfs*80)" "2" "" "0000359605" "00016114" "90" "722" "0" "738" "0" "c.722_738dup" "r.(?)" "p.(Ala247Glnfs*68)" "3" "" "0000359606" "00016114" "90" "702" "0" "714" "0" "c.702_714dup" "r.(?)" "p.(Gly239Argfs*125)" "3" "" "0000359607" "00016114" "90" "722" "0" "756" "0" "c.722_756del" "r.(?)" "p.(Ala241Glyfs*107)" "3" "" "0000359608" "00016114" "90" "636" "0" "673" "0" "c.636_673del" "r.(?)" "p.(Gly216Alafs*131)" "3" "" "0000359609" "00016114" "90" "721" "0" "740" "0" "c.721_740del" "r.(?)" "p.(Ala241Argfs*112)" "3" "" "0000369308" "00016114" "90" "95" "0" "105" "0" "c.95_105del" "r.(?)" "p.(Asp32Valfs*10)" "" "" "0000522579" "00016114" "30" "692" "0" "692" "0" "c.692G>A" "r.(?)" "p.(Gly231Asp)" "" "" "0000522580" "00016114" "30" "651" "0" "651" "0" "c.651G>T" "r.(?)" "p.(Gly217=)" "" "" "0000522581" "00016114" "30" "552" "0" "552" "0" "c.552C>T" "r.(?)" "p.(Ser184=)" "" "" "0000709404" "00016114" "10" "552" "0" "552" "0" "c.552C>T" "c.(552c>u)" "p.(Ser184=)" "3" "" "0000709407" "00016114" "10" "552" "0" "552" "0" "c.552C>T" "r.(552c>u)" "p.(Ser184=)" "3" "" "0000709408" "00016114" "10" "552" "0" "552" "0" "c.552C>T" "r.(=)" "p.(=)" "3" "" "0000709409" "00016114" "50" "754" "0" "774" "0" "c.754_774del" "r.(?)" "p.(Ala254_Ala260del)" "3" "" "0000709411" "00016114" "70" "0" "0" "0" "0" "-" "r.(=)" "p.(=)" "" "" "0000709412" "00016114" "70" "0" "0" "0" "0" "-" "r.(?)" "p.(=)" "3_" "" "0000801649" "00016114" "90" "753" "0" "767" "0" "c.753_767dup" "r.(?)" "p.(Ala256_Ala260dup)" "" "" "0000850609" "00016114" "30" "741" "0" "758" "0" "c.741_758del" "r.(?)" "p.(Ala255_Ala260del)" "" "" "0000850610" "00016114" "50" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(Arg102Cys)" "" "" "0000850611" "00016114" "90" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(Arg102Cys)" "" "" "0000859438" "00016114" "10" "750" "0" "750" "0" "c.750G>A" "r.(?)" "p.(Ala250=)" "" "" "0000859439" "00016114" "30" "741" "0" "758" "0" "c.741_758del" "r.(?)" "p.(Ala255_Ala260del)" "" "" "0000877632" "00016114" "90" "440" "0" "440" "0" "c.440A>G" "r.(440a>g)" "p.(Gln147Arg)" "3" "" "0000886285" "00016114" "30" "393" "0" "393" "0" "c.393G>C" "r.(?)" "p.(Leu131=)" "" "" "0000886286" "00016114" "50" "307" "0" "307" "0" "c.307A>C" "r.(?)" "p.(Thr103Pro)" "" "" "0000886287" "00016114" "90" "238" "0" "239" "0" "c.238_239del" "r.(?)" "p.(Ala80Serfs*97)" "" "" "0000924115" "00016114" "50" "100" "0" "100" "0" "c.100A>G" "r.(?)" "p.(Ser34Gly)" "" "" "0000976291" "00016114" "50" "762" "0" "770" "0" "c.762_770del" "r.(?)" "p.(Ala258_Ala260del)" "" "" "0000976292" "00016114" "30" "738" "0" "776" "0" "c.738_776del" "r.(?)" "p.(Ala248_Ala260del)" "" "" "0000976293" "00016114" "50" "729" "0" "749" "0" "c.729_749del" "r.(?)" "p.(Ala254_Ala260del)" "" "" "0000994286" "00016114" "50" "865" "0" "865" "0" "c.865G>A" "r.(?)" "p.(Gly289Ser)" "" "" "0000994287" "00016114" "50" "671" "0" "671" "0" "c.671C>A" "r.(?)" "p.(Pro224Gln)" "" "" "0000994288" "00016114" "30" "639" "0" "639" "0" "c.639C>G" "r.(?)" "p.(=)" "" "" "0001024922" "00016114" "10" "762" "0" "762" "0" "c.762A>C" "r.(?)" "p.(Ala254=)" "" "" "0001034555" "00016114" "50" "907" "0" "907" "0" "c.907G>A" "r.(?)" "p.(Gly303Ser)" "" "" "0001045956" "00016114" "90" "448" "0" "448" "0" "c.448C>A" "r.(?)" "p.(Arg150Ser)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 111 "{{screeningid}}" "{{variantid}}" "0000000017" "0000132341" "0000000018" "0000132342" "0000000022" "0000132343" "0000081611" "0000132284" "0000081612" "0000132285" "0000081617" "0000132286" "0000081618" "0000132287" "0000081619" "0000132288" "0000081620" "0000132289" "0000081621" "0000132290" "0000081622" "0000132291" "0000081623" "0000132292" "0000081624" "0000132293" "0000081625" "0000132294" "0000081627" "0000132295" "0000081628" "0000132296" "0000081629" "0000132297" "0000081630" "0000132298" "0000081632" "0000132299" "0000081633" "0000132300" "0000081637" "0000132301" "0000081638" "0000132302" "0000081639" "0000132303" "0000081640" "0000132306" "0000081641" "0000132307" "0000081642" "0000132308" "0000081643" "0000132309" "0000081644" "0000132310" "0000081645" "0000132311" "0000081646" "0000132312" "0000081647" "0000132313" "0000081648" "0000132314" "0000081649" "0000132315" "0000081650" "0000132316" "0000081651" "0000132317" "0000081652" "0000132318" "0000081653" "0000132319" "0000081654" "0000132320" "0000081655" "0000132321" "0000081656" "0000132322" "0000081657" "0000132323" "0000081658" "0000132324" "0000081659" "0000132325" "0000081660" "0000132326" "0000081661" "0000132327" "0000081662" "0000132328" "0000081663" "0000132329" "0000081664" "0000132330" "0000081665" "0000132331" "0000081666" "0000132332" "0000081667" "0000132333" "0000081668" "0000132334" "0000081669" "0000132335" "0000081669" "0000132344" "0000081670" "0000132336" "0000081671" "0000132337" "0000081671" "0000132345" "0000081672" "0000132338" "0000081672" "0000132346" "0000081673" "0000132339" "0000081673" "0000132347" "0000081674" "0000132340" "0000104467" "0000169268" "0000132763" "0000221945" "0000132777" "0000221959" "0000132788" "0000221972" "0000132795" "0000221983" "0000132801" "0000221985" "0000132866" "0000222053" "0000132867" "0000222054" "0000132868" "0000222055" "0000132870" "0000222057" "0000132872" "0000222058" "0000132930" "0000222119" "0000132931" "0000222120" "0000132932" "0000222121" "0000132933" "0000222122" "0000132934" "0000222123" "0000132935" "0000222124" "0000132936" "0000222125" "0000132937" "0000222126" "0000132938" "0000222127" "0000132939" "0000222128" "0000132940" "0000222129" "0000132941" "0000222130" "0000132942" "0000222131" "0000132943" "0000222132" "0000132944" "0000222133" "0000132945" "0000222134" "0000132947" "0000222135" "0000132948" "0000222136" "0000132949" "0000222137" "0000132950" "0000222138" "0000132951" "0000222139" "0000132952" "0000222140" "0000132953" "0000222141" "0000132954" "0000222142" "0000156573" "0000359604" "0000156574" "0000359605" "0000156575" "0000359606" "0000156576" "0000359607" "0000156577" "0000359608" "0000156578" "0000359609" "0000165583" "0000369308" "0000326129" "0000709404" "0000326132" "0000709407" "0000326133" "0000709408" "0000326134" "0000709409" "0000326136" "0000709411" "0000326137" "0000709412" "0000417897" "0000877632"